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Hydrated Minerals and Fluvial Features In and Around the Melas Chasma Basin
NASA Astrophysics Data System (ADS)
Using a synergy of mineralogy derived from CRISM data and morphology interpreted from HiRISE and CTX images, we map geologic units within and around the Melas basin. Numerous hydrated minerals and fluvial features indicate a complex aqueous history.
Weitz, C. M.; Williams, R. M. E.; Noe Dobrea, E.; Baldridge, A.
Atypical clinical presentations of the A3243G mutation, usually associated with MELAS.
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a clinical syndrome associated with mitochondrial abnormalities. In approximately 80% of patients, the syndrome is associated with the A3243G mutation. However, it has been realized that the A3243G mutation is not uncommon in the general population and is found in many patients with clinical presentations other than MELAS. We present four patients who presented with rhabdomyolysis, muscle fatigue, external ophthalmoplegia and myoclonic jerks respectively. These patients were all found to have the A3243G mutation on muscle biopsy. These patients illustrate the variety of presentations associated with A3243G mutation. PMID:22747555
Blum, S; Robertson, T; Klingberg, S; Henderson, R D; McCombe, P
NASA Technical Reports Server (NTRS)5 March 2005 This Mars Global Surveyor (MGS) Mars Orbiter Camera (MOC) image shows layered sedimentary rocks in southwestern Melas Chasma. Location near: 10.0oS, 75.9oW Image width: 3 km (1.9 mi) Illumination from: upper left Season: Southern Autumn
MELAS syndrome presenting as an acute surgical abdomen.
MELAS (mitochondrial cytopathy, encephalomyopathy, lactic acidosis and stroke-like episodes) is a syndrome in which signs and symptoms of gastrointestinal disease are uncommon if not rare. We describe the case of a young woman who presented as an acute surgical emergency, diagnosed as toxic megacolon necessitating an emergency total colectomy. MELAS syndrome was suspected postoperatively owing to persistent lactic acidosis and neurological symptoms. The diagnosis was later confirmed with histological and genetic studies. This case highlights the difficulties in diagnosing MELAS because of its unpredictable presentation and clinical course. We therefore recommend a high index of suspicion in cases of an acute surgical abdomen with additional neurological features or raised lactate. PMID:24417855
Dindyal, S; Mistry, K; Angamuthu, N; Smith, G; Hilton, D; Arumugam, P; Mathew, J
Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature.
Renal dysfunction is increasingly recognized as a potential clinical feature of mitochondrial cytopathies such as mitochondrial encephalomyopathy, lacticacidosis and stroke-like episodes (MELAS) syndrome. Five cases of MELAS syndrome with renal involvement from 4 unrelated families are presented in this case series. Three of the 5 patients had a history of maternally-inherited diabetes and/or deafness. Focal and segmental glomerulosclerosis and arteriolar hyaline thickening were the most striking findings on renal biopsy. In addition to clinical presentation with the typical symptoms of MELAS syndrome, genetic testing in these patients identified the A3243G point mutation in the tRNALeu gene of the mitochondrial DNA (mtDNA). The diagnosis of MELAS syndrome was thus considered to be unequivocal. The incidence of kidney disease in MELAS syndrome may be underestimated although a study is required to investigate this hypothesis. As the A3243G mtDNA mutation leads to a progressive adult-onset form of focal segmental glomerulosclerosis (FSGS), screening for the MELAS A3243G mtDNA mutation should therefore be performed especially in patients with maternally-inherited diabetes or hearing loss presenting with FSGS. PMID:22909780
Seidowsky, Alexandre; Hoffmann, Maxime; Glowacki, Fran�ois; Dhaenens, Claire-Marie; Devaux, Jean-Philippe; de Sainte Foy, Celia Lessore; Provot, Fran�ois; Gheerbrant, Jean-Dominique; Hummel, Aurelie; Hazzan, Marc; Dracon, Michel; Dieux-Coeslier, Anne; Copin, Marie-Christine; No�l, Christian; Buob, David
Inappropriate intracranial hemodynamics in the natural course of MELAS.
The abnormalities of intracranial hemodynamics associated with strokelike episodes in MELAS are variable depend on the time phase from the onset of strokelike episodes and on the progression of the dementia state. To clarify the regional cerebral blood flows (rCBF) in the natural course of MELAS is very important to understand the pathogenic mechanism of this disorder, either cytopathy, angiopathy or both. We analyzed the serial studies of brain statistical parametric mapping (SPM) 99 single photon emission computed tomography (SPECT) in 5 MELAS patients in maximum 10 years interval, who fulfilled the clinical, pathological and genetic criteria of MELAS, and have an A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene. SPM is a proven and effective method for the voxel-by-voxel analysis of functional images which show the advantage in its promise of fully automated neurophysiological imaging analysis throughout the whole brain using various statistical analyses. SPECT acquisition was initiated and was reconstructed by iterative algorithm and were processed and analyzed with SPM 99 for Windows software. Statistics were displayed as Z scores (threshold: P < 0.01). The inappropriate intracranial hemodynamics was found not only at the acute but at the interictal phase, and was getting worse as the disease progress. Hypoperfusion in the posterior cingulate cortex was always observed (corrected P < 0.01) in MELAS patients, which is the typical finding reported in Alzheimer's disease. The inappropriate intracranial hemodynamics is a common feature and may be related with mitochondrial angiopathy in the natural course of MELAS. PMID:17664050
Nishioka, Junko; Akita, Yukihiro; Yatsuga, Shuichi; Katayama, Koujyu; Matsuishi, Toyojiro; Ishibashi, Masatoshi; Koga, Yasutoshi
Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype
Objective: To describe the natural history of clinical and laboratory features associated with the m.3243A>G mitochondrial DNA point mutation. Natural history data are needed to obtain prognostic information and for clinical trial planning. Methods: We included 85 matrilineal relatives from 35 families with at least 2 visits in this prospective cohort study. Thirty-one were fully symptomatic with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), and 54 were carrier relatives. Evaluations included standardized questionnaires (medical history and daily living functioning), physical examination, neuropsychological testing, and a battery of imaging and laboratory tests. We evaluated changes in clinical and laboratory features over time and survival. Outcomes are reported over a follow-up period of up to 10.6 years (mean 3.8 � 2.2 years for patients and 5.5 � 3.0 for carrier relatives). Results: Neurologic examination, neuropsychological testing, and daily living scores significantly declined in all patients with MELAS, whereas no significant deterioration occurred in carrier relatives. Cerebral MRI scores declined significantly in patients with MELAS. Magnetic resonance spectroscopy estimates of lactate in the lateral ventricles increased over time, and high lactate was associated with increased mortality. Symptom onset in childhood often was associated with worse outcome. Patients with MELAS had a greater death rate than carrier relatives. Conclusions: Patients with MELAS carrying the m.3243A>G mutation show a measurable decline in clinical and imaging outcomes. It is hoped that these data will be helpful in anticipating the disease course and in planning clinical trials for MELAS.
Engelstad, K.; Wei, Y.; Kulikova, R.; Oskoui, M.; Sproule, D.M.; Battista, V.; Koenigsberger, D.Y.; Pascual, J.M.; Shanske, S.; Sano, M.; Mao, X.; Hirano, M.; Shungu, D.C.; DiMauro, S.; De Vivo, D.C.
Esophageal Cancer - Featured Clinical Trials
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Clinical Features of Turner Syndrome
Clinical Features Quick Navigation Introduction General Appearance Short Stature Puberty/Reproduction Heart Kidney Osteoporosis Diabetes Thyroid CognitiveFunction/ Educational Issues Table 1. - phenotype incidences ...
Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome.
Mitochondria are found in all nucleated human cells and generate most of the cellular energy. Mitochondrial disorders result from dysfunctional mitochondria that are unable to generate sufficient ATP to meet the energy needs of various organs. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a frequent maternally inherited mitochondrial disorder. There is growing evidence that nitric oxide (NO) deficiency occurs in MELAS syndrome and results in impaired blood perfusion that contributes significantly to several complications including stroke-like episodes, myopathy, and lactic acidosis. Both arginine and citrulline act as NO precursors and their administration results in increased NO production and hence can potentially have therapeutic utility in MELAS syndrome. Citrulline raises NO production to a greater extent than arginine, therefore, citrulline may have a better therapeutic effect. Controlled studies assessing the effects of arginine or citrulline supplementation on different clinical aspects of MELAS syndrome are needed. PMID:24412347
El-Hattab, Ayman W; Emrick, Lisa T; Chanprasert, Sirisak; Craigen, William J; Scaglia, Fernando
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Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (melas) syndrome presenting as acute meningoencephalitis: a case report
Background: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare mitochondrial disorder with a wide range of multisystemic symptoms. Epileptic seizures are common features of both MELAS and meningoencephalitis and are typically treated with anticonvulsants. Objectives: To provide the reader with a better understanding of MELAS and the adverse effects of valproic acid. Case Report: A
Yu-Chuan Hsu; Fu-Chi Yang; Cherng-Lih Perng; An-Chen Tso; Lee-Jun C. Wong; Chang-Hung Hsu
NASA Technical Reports Server (NTRS)
MGS MOC Release No. MOC2-336, 20 April 2003This Mars Global Surveyor (MGS) Mars Orbiter Camera (MOC) picture obtained in March 2003 shows dark-toned buttes of possible sedimentary rock in southern Melas Chasma. These buttes are remnants of a layer or sequence of layers that once covered this portion of the chasm floor. The buttes are located near 11.4oS, 75.1o W. Sunlight illuminates the scene from the upper right.
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Clinical Features of Friedreich Ataxia
Friedreich ataxia, the most common hereditary ataxia, affects about 1:29 000 Caucasians. In about 98% of these individuals it is due to homozygosity for a GAA trinucleotide repeat expansion in intron 1 of FXN; in the other 2% it is due to compound heterozygosity for a GAA expansion and point mutation or deletion. The condition affects multiple sites in the central and peripheral nervous system as well as a number of other organ systems, resulting in multiple signs and symptoms. Onset of this autosomal recessive condition is usually in the first 2 decades of life. Major clinical features include progressive ataxia, absent lower limb reflexes, upgoing plantar responses, and peripheral sensory neuropathy. The main non-neurological sites of morbidity are the heart, resulting in cardiomyopathy, and the pancreas, resulting in diabetes mellitus. In this review, we provide an overview of the clinical features of Friedreich ataxia and discuss differential diagnoses.
Delatycki, Martin B; Corben, Louise A
MELAS syndrome: peripheral neuropathy and cytochrome C-oxidase deficiency: a case report and review of the literature.
A 4-year-old boy presented with developmental delay, aggressive behavior, and incoordination. His EEG showed a diffuse encephalopathy. At age 10 he developed convulsions and severe migraine-like headaches. Muscle wasting, arreflexia, and lactic acidemia following exercise were noted. Electromyography was myopathic and nerve conduction studies revealed a peripheral neuropathy. Muscle biopsy demonstrated variation in fiber size and an excess of lipid droplets. He than had several stroke-like episodes and periods of unconsciousness, associated with severe metabolic acidosis. Muscle cytochrome C oxidase was abnormally low. This boy displayed the classical clinical and biochemical features of MELAS syndrome, namely Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes. Treatment included carnitine, vitamin C, vitamin K, riboflavin, coenzyme Q10, and corticosteroids. He died at the age of 14 years following an episode of seizures, coma, and gastrointestinal hemorrhage. This is the first reported case of MELAS syndrome in Israel. PMID:7721560
Barak, Y; Arnon, S; Wolach, B; Raz, Y; Ashkenasi, A; Glick, B; Shapira, Y
NASA Technical Reports Server (NTRS)[figure removed for brevity, see original site] Erosion of the interior layered deposits of Melas Chasma, part of the huge Valles Marineris canyon system, has produced cliffs with dramatic examples of spur and gulley morphology and beautiful exposures of finely layered sediments.Note: this THEMIS visual image has not been radiometrically nor geometrically calibrated for this preliminary release. An empirical correction has been performed to remove instrumental effects. A linear shift has been applied in the cross-track and down-track direction to approximate spacecraft and planetary motion. Fully calibrated and geometrically projected images will be released through the Planetary Data System in accordance with Project policies at a later time.NASA's Jet Propulsion Laboratory manages the 2001 Mars Odyssey mission for NASA's Office of Space Science, Washington, D.C. The Thermal Emission Imaging System (THEMIS) was developed by Arizona State University, Tempe, in collaboration with Raytheon Santa Barbara Remote Sensing. The THEMIS investigation is led by Dr. Philip Christensen at Arizona State University. Lockheed Martin Astronautics, Denver, is the prime contractor for the Odyssey project, and developed and built the orbiter. Mission operations are conducted jointly from Lockheed Martin and from JPL, a division of the California Institute of Technology in Pasadena.Image information: VIS instrument. Latitude -10.4, Longitude 284.9 East (75.1 West). 19 meter/pixel resolution.
A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy
Using RNase protection analysis, we found a novel C to G mutation at nucleotide position 3093 of mitochondrial DNA (mtDNA) in a previously reported 35-year-old woman exhibiting clinical features of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome together with diabetes mellitus, hyperthyroidism and cardiomyopathy. The patient also had an A3243G mutation in the tRNALeu(UUR) gene and a
Rong-Hong Hsieh; Jei-Yuan Li; Cheng-Yoong Pang; Yau-Huei Wei
Clinical features of testicular lymphoma.
Testicular lymphoma is a rare condition, so large scale prospective studies are difficult to conduct. Consensus regarding standard treatment is lacking. This study retrospectively reviewed 22 patients with testicular lymphoma. One patient with diffuse large B-cell lymphoma (DLBCL) was lost to follow-up after diagnosis. Two patients with Burkitt's lymphoma had poor outcomes regardless of treatment. Thus, we analyzed the clinical features, treatments, and outcomes of 19 patients with DLBCL. The median progression-free and overall survival was 28.3 and 36.3 months, respectively. A good response to treatment was a favorable prognostic factor. Because of the high relapse rate, the outcome is poor for testicular lymphoma. Therefore, long-term follow-up is strongly recommended. PMID:24247653
Shih, Hsuan-Jen; Shih, Lee-Yung; Chang, Hung; Wang, Po-Nan; Wu, Jin-Hou; Kuo, Ming-Chung; Hung, Yu-Shin; Dunn, Po
MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family.
The clinical features of a patient in a Chinese family with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) are reported. The study revealed that hearing and visual impairments and miscarriages may be early clinical presentations in MELAS. A heteroplasmic A to G transition in the tRNA(Leu(UUR)) gene was noted at the nucleotide pair 3243 in the mitochondrial DNA of muscle, blood, and hair follicles of the proband and his maternal relatives. Quantitative analysis of the mutated mitochondrial DNA revealed variable proportions in different tissues and subjects of maternal lineage in the family. Muscle tissue contained a higher proportion of the mutant mitochondria than other tissues examined. The function of the reproductive system of the proband seems to be impaired. In one clinically healthy sibling, the 3243rd point mutation was found in sperm mitochondrial DNA, although sperm motility was not affected. It seems that biochemical defects in mitochondrial respiration and oxidative phosphorylation are tissue specific expressions of the 3243rd point mutation in the mitochondrial DNA of the affected target tissues. Images
Huang, C C; Chen, R S; Chen, C M; Wang, H S; Lee, C C; Pang, C Y; Hsu, H S; Lee, H C; Wei, Y H
Recurrent corneal erosion: clinical features.
The clinical features of a group of 30 patients with recalcitrant recurrent corneal erosions (i.e. those who failed to respond to conventional therapy) were evaluated. Associated ocular and facial abnormalities were documented. Meibomian gland dysfunction was present in all patients as manifest by dropout and inspissation of the meibomian glands, reduced tear film break-up time and debris in the tear film. Dropout of meibomian glands was present in 25 (83%) patients and was maximum in the medial half of the lid in 21 (84%) of these 25 patients. Tear film break-up time was reduced in all patients, being instant in 7 (23%), between 1 and 5 seconds in 22 (74%) and between 10 and 15 seconds in 1 (3%) patient. Superficial corneal abnormalities were present in 28 (93%) patients as manifest by maps, dots and fingerprints. Facial abnormalities such as telangiectasia, rhinophyma and acne rosacea were present in 22 (73%) patients. The findings of our study suggest an association between recalcitrant recurrent corneal erosions and meibomian gland dysfunction. PMID:7821454
Hope-Ross, M W; Chell, P B; Kervick, G N; McDonnell, P J
[Clinical features of corticobasal degeneration].
Corticobasal degeneration was described in 1968 by Rebeiz, Kolodny and Richardson, who characterized the disease as a syndrome of asymmetric akinesis and rigidity, dystonia of the upper limb, apraxia, myoclonus and dementia. Atrophy of the frontal and parietal lobe, neuronal loss, gliosis and achromatic neurones (and nowadays astrocytic plaques) are the characteristic pathological features of the disease. Corticobasal degeneration is a rare or a rarely recognized disease and it is frequently misdiagnosed as Parkinson's disease. According to the Lang's criteria, corticobasal degeneration can be diagnosed in the presence of rigidity and one cortical symptom (apraxia, cortical sensory loss, alien hand) or in a patient with rigidity, dystonia and focal reflex myoclonus. Exclusion criteria are early dementia (as in primary degenerative dementias), early vertical gaze problems (as in progressive supranuclear palsy), resting tremor and good, sustained therapeutic response to levodopa (as in Parkinson's disease), severe autonomic problems (as in multiple system atrophy) and any pathology on imaging studies which might explain the clinical symptoms. It should be mentioned, that recently early dementia is recognized as an initial symptom of corticobasal degeneration. The authors present a case and review the literature to call attention to this disorder. PMID:15884398
Farsang, Marianna; Tak�ts, Annam�ria; Szirmai, Imre; Kov�cs, Tibor
NASA Technical Reports Server (NTRS)[figure removed for brevity, see original site] Click on image for larger annotated version This scene of layered deposits is from Melas Chasma, part of the Valles Marineris valley network. The area consists of a series of plateaus and cliffs that form a step-like terrain similar to the Grand Staircase-Escalante region of southwest Utah. The upper-right half of the image covers the highest plateau, and lower cliffs and plateaus step down in elevation toward the lower left of the image. Dunes of dark sand commonly cover the flat plateaus and distinct layers of bedrock are exposed in the cliffs. The orientations of these layers may help scientists to understand how the layers formed and the kind of environment that the layers formed in. Black rectangles on the left side of the image are areas where the image data was lost during transmission from Mars Reconnaissance Orbiter to Earth. This subscene [above] shows a series of boulder tracks on the left side of the image. The boulders fell from the cliffs above and left behind a series of small depressions. Each depression was made as the boulder bounced and rolled along the surface. In many cases, the tracks can be followed to the specific boulder that made them. Also visible in this subscene are cross-sections through the layered bedrock. This bedrock likely formed through settling of sand-sized particles out of the air or out of a body of water that has since drained away. These layers are 'cross-bedded', which means that subsequent layers are not parallel to each other but are instead oriented at an angle to other layers. The fact that these layers are cross-bedded indicates that the sand-sized particles were moved horizontally along the surface as they settled, just like sand dunes or ripples at the bottom of a stream. The size and shape of these cross-beds may help scientists to determine if the layers formed underwater or on land. Image PSP_001377_1685 was taken by the High Resolution Imaging Science Experiment (HiRISE) camera onboard the Mars Reconnaissance Orbiter spacecraft on November 11, 2006. The complete image is centered at -11.3 degrees latitude, 286.3 degrees East longitude. The range to the target site was 257.7 km (161.0 miles). At this distance the image scale ranges from 25.8 cm/pixel (with 1 x 1 binning) to 51.6 cm/pixel (with 2 x 2 binning). The image shown here [below] has been map-projected to 25 cm/pixel and north is up. The image was taken at a local Mars time of 3:32 PM and the scene is illuminated from the west with a solar incidence angle of 60 degrees, thus the sun was about 30 degrees above the horizon. At a solar longitude of 133.9 degrees, the season on Mars is Northern Summer. NASA's Jet Propulsion Laboratory, a division of the California Institute of Technology in Pasadena, manages the Mars Reconnaissance Orbiter for NASA's Science Mission Directorate, Washington. Lockheed Martin Space Systems, Denver, is the prime contractor for the project and built the spacecraft. The High Resolution Imaging Science Experiment is operated by the University of Arizona, Tucson, and the instrument was built by Ball Aerospace and Technology Corp., Boulder, Colo.
Population prevalence of the MELAS A3243G mutation
We aimed to establish the population prevalence of the MELAS 3243A>G mtDNA mutation in a large Caucasian-based population (n=2954; 99% Caucasian, 57% women and mean age of 66.4 years). All participants underwent comprehensive clinical evaluation including audiologic testing. We detected the 3243A>G mutation in seven subjects using standard polymerase chain reaction\\/restriction fragment length polymorphism methods, establishing a population prevalence of
Neil Manwaring; Michael M. Jones; Jie Jin Wang; Elena Rochtchina; Chris Howard; Paul Mitchell; Carolyn M. Sue
Gastroesophageal Reflux Disease: Clinical Features
Gastroesophageal reflux disease (GERD) is a chronic disease affecting up to 40% of people in the Western world. Risk factors\\u000a associated with GERD include age and lifestyle habits, although the clinically relevant contribution of many of these factors\\u000a is unclear. In GERD, refluxed gastric acid damages the oesophageal mucosa, generally when the pH falls below 4. GERD patients\\u000a present a
Michael Pettit
Clinical features of Pompe disease.
Glycogen storage disease type II - also called Pompe disease or acid maltase deficiency - is an autosomal recessive metabolic disorder, caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. Pompe disease is transmitted as an autosomal recessive trait and is caused by mutations in the gene encoding the acid ?-glucosidase (GAA), located on chromosome 17q25.2-q25.3. The different disease phenotypes are related to the levels of residual GAA activity in muscles. The clinical spectrum ranging from the classical form with early onset and severe phenotype to not-classical form with later onset and milder phenotype is described. PMID:24399863
Manganelli, Fiore; Ruggiero, Lucia
NASA Technical Reports Server (NTRS)This image is a mosaic of day and night infrared images of Melas Chasma taken by the camera system on NASA's Mars Odyssey spacecraft. The daytime temperature images are shown in black and white, superimposed on the martian topography. A single nighttime temperature image is superimposed in color. The daytime temperatures range from approximately -35 degrees Celsius (-31 degrees Fahrenheit) in black to -5 degrees Celsius (23 degrees Fahrenheit) in white. Overlapping landslides and individual layers in the walls of Melas Chasma can be seen in this image. The landslides flowed over 100 kilometers (62 miles) across the floor of Melas Chasma, producing deposits with ridges and grooves of alternating warm and cold materials that can still be seen. The temperature differences in the daytime images are due primarily to lighting effects, where sunlit slopes are warm (bright) and shadowed slopes are cool (dark). The nighttime temperature differences are due to differences in the abundance of rocky materials that retain their heat at night and stay relatively warm (red). Fine grained dust and sand (blue) cools off more rapidly at night. These images were acquired using the thermal infrared imaging system infrared Band 9, centered at 12.6 micrometers.Jet Propulsion Laboratory, a division of the California Institute of Technology in Pasadena, manages the 2001 Mars Odyssey mission for NASA's Office of Space Science in Washington, D.C. Investigators at Arizona State University in Tempe, the University of Arizona in Tucson and NASA's Johnson Space Center, Houston, operate the science instruments. Additional science partners are located at the Russian Aviation and Space Agency and at Los Alamos National Laboratories, New Mexico. Lockheed Martin Astronautics, Denver, is the prime contractor for the project, and developed and built the orbiter. Mission operations are conducted jointly from Lockheed Martin and from JPL. Aviation and Space Agency and at Los Alamos National Laboratories, New Mexico. Lockheed Martin Astronautics, Denver, is the prime contractor for the project, and developed and built the orbiter. Mission operations are conducted jointly from Lockheed Martin and from JPL.
Clinical Features of Cushing�s Syndrome
\\u000a In spite of its low frequency, endogenous Cushing�s syndrome (CS) is not an exceptional clinical entity. A growing number\\u000a of cases are currently derived to specialized centers suggesting an increasing knowledge of the clinical features of hypercortisolism\\u000a from the part of general practitioners, internists, cardiologists, gynecologists, dermatologists, and specialists of other\\u000a branches of clinical medicine. Since the first description of
Oscar D. Bruno
Clinical and radiographic maxillofacial features of pycnodysostosis.
The aim of this study was to review of the literature to determine the radiographic and clinical maxillofacial features of pycnodysostosis emphasizing the main aspects of interest to the dentist in order to make them fit for the proper treatment of this population. It is important to make the diagnosis as early as possible in order to plan the treatment more suitable to provide a better life's quality to the patients. The most frequent clinical maxillofacial features were: grooved palate, midfacial hypoplasia, mandibular hypoplasia and enamel hypoplasia. The most common radiographic maxillofacial features were: obtuse mandibular angle, frontal/parietal/occiptal bossing, open fontanels and sutures, multiple impacted teeth. The earlier diagnostic of pycnodysostosis has a fundamental role in general health of the patients. We consider that is very important that the dentist know recognize the radiographic and clinical maxillofacial features of pycnodysostosis, which allows correct treatment planning avoiding risks and ensuring better life's quality to the patients. PMID:24753741
Alves, Nilton; Cant�n, Mario
Melas Chasma: A Mars Pathfinder View of Valles Marineris.
National Technical Information Service (NTIS)
A Mars Pathfinder landing site in Melas Chasma (Valles Marineris) would yield significant science return, but is outside present mission constraints. In Melas Chasma, Mars Pathfinder could investigate minimally altered basaltic material, sedimentary depos...
A. H. Treiman S. Murchie
Transient ischemic attack-like episodes without stroke-like lesions in MELAS.
A stroke-like episode is a core symptom in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Proton magnetic resonance spectroscopy (1H-MRS) is useful in the diagnosis of mitochondrial diseases. We report an 8-year-old girl with MELAS, presenting with a seizure and blindness. 1H-MRS showed a strikingly elevated lactate peak in the right occipital region, where no abnormal signals appeared on either T2-W or diffusion-weighted MRI. She recovered completely within a day. We describe this mild clinical condition with abnormal lactate peak in normal-appearing gray matter as a transient ischemic attack-like episode in MELAS. PMID:23677422
Mitani, Tadahiro; Aida, Noriko; Tomiyasu, Moyoko; Wada, Takahito; Osaka, Hitoshi
Colorectal Cancer: Molecular Features and Clinical Opportunities
Colorectal cancer is a heterogeneous disease. There are three main pathways to colorectal cancer: the chromosomal instability pathway, the CpG island methylator phenotype pathway and the pure microsatellite instability pathway. Each of these is characterised by specific pathological precursors, mechanisms of carcinogenesis and natural history. The molecular features of these pathways have been exploited clinically in the diagnosis, screening and management of patients and families with colorectal cancer. This review summarises recent developments in our understanding of colorectal carcinogenesis and examines the interface between scientific discovery and the clinical application of molecular techniques in inherited and sporadic colorectal cancer.
Worthley, Daniel L; Leggett, Barbara A
[Clinical features and treatments of antiphospholipid syndrome].
Antiphospholipid antibodies are serological markers of antiphospholipid syndrome (APS). Diversity of so-called antiphospholipid antibodies is well-known. These antibodies are directed against phospholipid binding proteins such as beta(2)-glycoprotein I and prothrombin as well as against phospholipids such as cardiolipin. Thrombosis and pregnancy morbidity are clinical features of APS. In addition, cardiovascular manifestations, neurological disorders, skin manifestations, renal involvements and thrombocytopenia are reported to be significant in clinical aspects of APS. Anticoagulation therapy and antiplatelet therapy are effective for the secondary prevention of thrombosis in APS. PMID:18587225
Kaburaki, Junichi
Orbital lymphomas: Clinical and radiological features.
The purpose of this prospective study was to evaluate the clinical and radiological features of a consecutive series of orbital lymphomas in two Institutions in the North West of Italy. A prospective study was performed of all cases of diagnosed orbital lymphomas. Data on patient demographics, symptoms and clinical findings, histological type of lymphoma, site of lesion, imaging, and systemic involvement were recorded in each case. The mean age of the enrolled 20 patients was 63.65�years. Most orbital lymphomas were located in the superior-lateral quadrant. Superior rectus muscle was the most frequently involved orbital structure. Most patients were affected by extranodal marginal-zone lymphomas. The diagnosis of orbital lymphomas may be challenging, because these neoplasms present few specific features. Although not typically performed by the maxillofacial surgeon, an understanding of the staging process is crucial for multidisciplinary management of orbital lymphomas. PMID:24051193
Gerbino, Giovanni; Boffano, Paolo; Benech, Rodolfo; Baietto, Federico; Gallesio, Cesare; Arcuri, Francesco; Benech, Arnaldo
Clinical features of burning mouth syndrome.
A study was carried out to compare the clinical features of 102 subjects suffering from burning mouth syndrome (BMS) and 43 age- and sex-matched control subjects. In comparison with those in the control group, the BMS subjects reported a significantly higher prevalence of dry mouth, thirst, taste and sleep disturbances, headaches, nonspecific health problems, pain complaints, and severe menopausal symptoms, but no significant differences in other oral or dental features or in the prevalence of candidiasis infection. In addition, there was no hematologic evidence of a nutritional disturbance in more than 90% of the BMS subjects tested, but immunologic abnormalities and an elevation of the erythrocyte sedimentation rate were found in more than 58% and 63% of the BMS subjects, respectively. These findings demonstrate those features which distinguish BMS subjects from age- and sex-matched control subjects but provide no confirmatory evidence for many of the etiologic factors frequently suggested for BMS. PMID:3468464
Grushka, M
Clinical features of symptomatic patellofemoral joint osteoarthritis
Introduction Patellofemoral joint osteoarthritis (OA) is common and leads to pain and disability. However, current classification criteria do not distinguish between patellofemoral and tibiofemoral joint OA. The objective of this study was to provide empirical evidence of the clinical features of patellofemoral joint OA (PFJOA) and to explore the potential for making a confident clinical diagnosis in the community setting. Methods This was a population-based cross-sectional study of 745 adults aged ?50 years with knee pain. Information on risk factors and clinical signs and symptoms was gathered by a self-complete questionnaire, and standardised clinical interview and examination. Three radiographic views of the knee were obtained (weight-bearing semi-flexed posteroanterior, supine skyline and lateral) and individuals were classified into four subsets (no radiographic OA, isolated PFJOA, isolated tibiofemoral joint OA, combined patellofemoral/tibiofemoral joint OA) according to two different cut-offs: 'any OA' and 'moderate to severe OA'. A series of binary logistic and multinomial regression functions were performed to compare the clinical features of each subset and their ability in combination to discriminate PFJOA from other subsets. Results Distinctive clinical features of moderate to severe isolated PFJOA included a history of dramatic swelling, valgus deformity, markedly reduced quadriceps strength, and pain on patellofemoral joint compression. Mild isolated PFJOA was barely distinguished from no radiographic OA (AUC 0.71, 95% CI 0.66, 0.76) with only difficulty descending stairs and coarse crepitus marginally informative over age, sex and body mass index. Other cardinal signs of knee OA - the presence of effusion, bony enlargement, reduced flexion range of movement, mediolateral instability and varus deformity - were indicators of tibiofemoral joint OA. Conclusions Early isolated PFJOA is clinically manifest in symptoms and self-reported functional limitation but has fewer clear clinical signs. More advanced disease is indicated by a small number of simple-to-assess signs and the relative absence of classic signs of knee OA, which are predominantly manifestations of tibiofemoral joint OA. Confident diagnosis of even more advanced PFJOA may be limited in the community setting.
Neuromyelitis optica: clinical features, immunopathogenesis and treatment.
The term 'neuromyelitis optica' ('Devic's syndrome', NMO) refers to a syndrome characterized by optic neuritis and myelitis. In recent years, the condition has raised enormous interest among scientists and clinical neurologists, fuelled by the detection of a specific serum immunoglobulin (Ig)G reactivity (NMO-IgG) in up to 80% of patients with NMO. These autoantibodies were later shown to target aquaporin-4 (AQP4), the most abundant water channel in the central nervous system (CNS). Here we give an up-to-date overview of the clinical and paraclinical features, immunopathogenesis and treatment of NMO. We discuss the widening clinical spectrum of AQP4-related autoimmunity, the role of magnetic resonance imaging (MRI) and new diagnostic means such as optical coherence tomography in the diagnosis of NMO, the role of NMO-IgG, T cells and granulocytes in the pathophysiology of NMO, and outline prospects for new and emerging therapies for this rare, but often devastating condition. PMID:24666204
Jarius, S; Wildemann, B; Paul, F
Electroencephalographic and clinical features of cerebral malaria
BACKGROUND�Seizures are a prominent feature of childhood cerebral malaria, and are associated with an increased risk of death and neurological sequelae. We present the electroencephalographic (EEG) findings from a detailed clinical and electrophysiological study.?METHODS�Children with cerebral malaria had EEGs recorded within six hours of admission, and at 12 hourly intervals until recovery of consciousness. Ten deeply comatose children underwent intracranial pressure monitoring. Children were not mechanically ventilated, which made it possible to directly correlate the clinical and EEG findings.?RESULTS�Of 65 children aged 9 months and above, 40 had one or more seizures, and 18 had an episode of status epilepticus. Most seizures were partial motor, and spike wave activity consistently arose from the posterior temporo-parietal region, a border zone area lying between territories supplied by the carotid and vertebrobasilar circulations. Fifteen children had seizures that were clinically subtle or electrographic. Clinical seizures were associated with an abrupt rise in intracranial pressure. Fifty children recovered fully, seven died, and eight had persistent neurological sequelae. Initial EEG recordings of very slow frequency, or with background asymmetry, burst suppression, or interictal discharges, were associated with an adverse outcome.?CONCLUSIONS�Serial EEG recording has uncovered a range of clinical, subtle, and electrographic seizures complicating childhood cerebral malaria, and has emphasised their importance in the pathogenesis of coma. Further work is required to determine the most appropriate regimen for the prophylaxis and treatment of seizures in cerebral malaria, in order to improve outcome.??
Crawley, J; Smith, S; Muthinji, P; Marsh, K; Kirkham, F
[Basilar type migraine: clinical features, differential diagnosis].
The work is devoted to the description of neurological, vestibulometric and audiologic data obtained in the examination of 11 patients with basilar type migraine. The features of the disease (neck injuries before the disease, prolonged aura, protracted attacks, similarity with the clinical picture of stroke, occipital pain, cervical root syndrome, muscle-tonus phenomena and others) are described. A role of cervical pathology and labyrinthine hydrops in the disease pathogenesis as well as difficulties of differential diagnosis with M�ni�re's disease and Barre-Lieou syndrome are discussed. PMID:24662337
Stulin, I D; Kunel'skaia, N L; Tardov, M V; Ba?bakova, E V; Chugunova, M A; Zaoeva, Z O; Tardova, I M
The Amyloidoses: Clinical Features, Diagnosis and Treatment
Amyloidosis is a rare disorder in which insoluble amyloid proteins are deposited in body organs, causing abnormal protein build-up in tissues and eventually leading to organ dysfunction and death. It affects less than 200,000 people in the United States, classifying it as a rare disease according to the National Institutes of Health. Definitive determination of the underlying protein is critical since prognosis and treatment of amyloidosis can vary widely depending on the responsible protein. The following paper describes the various types and clinical features of amyloidosis and provides an overview of current diagnostic tools and therapies.
Baker, Kelty R.; Rice, Lawrence
Granulomatous mastitis: clinical, pathological features, and management.
This clinical study was conducted to present clinical, radiologic, and histopathologic features of Granulomatous Mastitis (GM) and evaluate the result of surgical and steroid treatment. Sixteen cases diagnosed histologically as GM were reviewed. Patient characteristics, clinical presentation, radiologic imaging, microbiologic, histopathologic assessment, treatment modalities, recurrence, morbidity, and follow-up data were analyzed. Majority of the patients were child bearing age and all of the patients had a history of breast feeding. Radiologic findings were nonspecific. Histopathology showed the characteristic distribution of granulomatous inflammation in all cases. In 12 cases, surgical excision of the lesion with negative margins was performed. Four cases required quadranectomy because of wideness of the disease. Three patients who had local reoccurrence and three resistant patients were treated by oral prednisone after surgical attempt. Complete remission was obtained and no further recurrence was observed in this patients. GM predominantly occurs in premenopausal women and the clinical symptoms might be misjudged as breast cancer. Histopathologic examination remains the gold standard for the diagnosis. Wide excision of the lesions is the recommended therapy and we suggest steroid therapy in resistant or recurrent disease following the idea that the disease has an autoimmune component. PMID:20030652
Ocal, Koray; Dag, Ahmet; Turkmenoglu, Ozgur; Kara, Tuba; Seyit, Hakan; Konca, Kamuran
Clinical mastitis in ewes; bacteriology, epidemiology and clinical features
Background Clinical mastitis is an important disease in sheep. The objective of this work was to identify causal bacteria and study certain epidemiological and clinical features of clinical mastitis in ewes kept for meat and wool production. Methods The study included 509 ewes with clinical mastitis from 353 flocks located in 14 of the 19 counties in Norway. Clinical examination and collection of udder secretions were carried out by veterinarians. Pulsed-field gel electrophoresis (PFGE) was performed on 92 Staphylococcus aureus isolates from 64 ewes. Results and conclusion S. aureus was recovered from 65.3% of 547 clinically affected mammary glands, coagulase-negative staphylococci from 2.9%, enterobacteria, mainly Escherichia coli, from 7.3%, Streptococcus spp. from 4.6%, Mannheimia haemolytica from 1.8% and various other bacteria from 4.9%, while no bacteria were cultured from 13.2% of the samples. Forty percent of the ewes with unilateral clinical S. aureus mastitis also had a subclinical S. aureus infection in the other mammary gland. Twenty-four of 28 (86%) pairs of S. aureus isolates obtained from clinically and subclinically affected mammary glands of the same ewe were indistinguishable by PFGE. The number of identical pairs was significantly greater than expected, based on the distribution of different S. aureus types within the flocks. One-third of the cases occurred during the first week after lambing, while a second peak was observed in the third week of lactation. Gangrene was present in 8.8% of the clinically affected glands; S. aureus was recovered from 72.9%, Clostridium perfringens from 6.3% and E. coli from 6.3% of the secretions from such glands. This study shows that S. aureus predominates as a cause of clinical ovine mastitis in Norway, also in very severe cases. Results also indicate that S. aureus is frequently spread between udder halves of infected ewes.
M?rk, Tormod; Waage, Steinar; Tollersrud, Tore; Kvitle, Bj?rg; Sviland, Stale
Clinical and pathological features of pachyonychia congenita.
Pachyonychia congenita (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. Pathogenic mutations in keratins K6a or K16 are associated with the PC-1 phenotype whereas K6b and K17 mutations are associated with the PC-2 phenotype. Analysis of clinical, pathological, and genetic data from the literature and two research registries reveal that >97% of PC cases exhibit fingernail and toenail thickening, and painful plantar keratoderma. Prospective evaluation of 57 PC patients from 41 families revealed variable clinical findings: hyperhidrosis (79%), oral leukokeratosis (75%), follicular keratosis (65%), palmar keratoderma (60%), cutaneous cysts (35%), hoarseness or laryngeal involvement (16%), coarse or twisted hair (26%), early primary tooth loss (14%), and presence of natal or prenatal teeth (2%). Stratification of these data by keratin mutation confirmed the increased incidence of cyst formation and natal teeth among PC-2 patients, although cysts were more commonly seen in PC-1 than previously reported (25%-33%). Previously unreported clinical features of PC include development of painful oral and nipple lesions during breastfeeding, copious production of waxy material in ears, and inability to walk without an ambulatory aid (50%). Possible pathogenic mechanisms are discussed with respect to the clinicopathologic and genetic correlations observed. PMID:16250204
Leachman, Sancy A; Kaspar, Roger L; Fleckman, Philip; Florell, Scott R; Smith, Frances J D; McLean, W H Irwin; Lunny, Declan P; Milstone, Leonard M; van Steensel, Maurice A M; Munro, Colin S; O'Toole, Edel A; Celebi, Julide T; Kansky, Aleksej; Lane, E Birgitte
Clinical Features of Bowel Anisakiasis in Japan
Bowel anisakiasis is rare, and the incidence and clinical features of this condition remain unclear. Using the Japanese Diagnosis Procedure Combination (DPC) in-patient database, we identified 201 cases of bowel anisakiasis between the months of July and December during 2007 and 2008. More than 70% were males. The average age was 54.5 years. Overall, 102 (50.7%) cases had ileus, 16 (8.0%) had perforation or peritonitis, and 4 (2.0%) had intestinal bleeding. Allergic responses, including urticaria, were found in seven (3.5%) patients. Fourteen (7.0%) cases underwent open surgery. Three (1.5%) underwent colonoscopic removal of Anisakis larvae. The average length of stay in the hospital was 9.6 days. The annual incidence of bowel anisakiasis is estimated to be about 3.0 per 1 million people per year. It is important to continue collecting all available data to monitor the trends of this distressing condition.
Yasunaga, Hideo; Horiguchi, Hiromasa; Kuwabara, Kazuaki; Hashimoto, Hideki; Matsuda, Shinya
Unilateral cerebellar hypoplasia with different clinical features.
Unilateral cerebellar hypoplasia (UCH) is a rare pathological condition characterized by the loss of volume in cerebellar hemispheres ranging from mild asymptomatic to severe symptomatic cases. As the designation of UCH remains problematic, the underlying etiopathogenesis also lacks explanation. We investigated the patients admitted to Departments of Child Neurology, Neurology, and Genetics between the years 1992 and 2010 and detected 12 patients with unilateral cerebellar volume loss, with the exclusion of all other cerebellar pathologies. The ages of patients ranged between 6 months to 55 years. Five patients had a delay in developmental milestones, and one of these was diagnosed with neurofibromatosis type 1. Two patients had epileptic seizures, one patient had peripheral facial paralysis as a component of Moebius syndrome, and four patients were incidentally diagnosed during etiological work-up for headache. The clinical outcomes of patients varied from healthy subjects to marked developmental impairment. Radiologically, five patients had severe disproportionate UCH, six had moderate disproportionate, and one had mild proportionate UCH. Cerebellar peduncles were affected in all, and vermis was partly hypoplastic in eight patients. Brainstem was involved in four patients, and seven patients showed involvement of white matter and/or corpus callosum. Imaging features supported that patients with severe disproportionate UCH also displayed additional cerebral and commissural changes, which were related to ischemic or vascular injuries, implying a prenatally acquired disruption. In the presence of such a wide spectrum of clinical and radiological features, a prenatally acquired lesion and, thus, a disruption seem to be more explanatory rather than a primary developmental process or malformation in the etiopathogenesis of unilateral cerebellar hypoplasia. PMID:20967575
Benbir, Gulcin; Kara, Simay; Yalcinkaya, Beyza Citci; Karhkaya, Geysu; Tuysuz, Beyhan; Kocer, Naci; Yalcinkaya, Cengiz
Discretization of continuous features in clinical datasets
Background The increasing availability of clinical data from electronic medical records (EMRs) has created opportunities for secondary uses of health information. When used in machine learning classification, many data features must first be transformed by discretization. Objective To evaluate six discretization strategies, both supervised and unsupervised, using EMR data. Materials and methods We classified laboratory data (arterial blood gas (ABG) measurements) and physiologic data (cardiac output (CO) measurements) derived from adult patients in the intensive care unit using decision trees and na�ve Bayes classifiers. Continuous features were partitioned using two supervised, and four unsupervised discretization strategies. The resulting classification accuracy was compared with that obtained with the original, continuous data. Results Supervised methods were more accurate and consistent than unsupervised, but tended to produce larger decision trees. Among the unsupervised methods, equal frequency and k-means performed well overall, while equal width was significantly less accurate. Discussion This is, we believe, the first dedicated evaluation of discretization strategies using EMR data. It is unlikely that any one discretization method applies universally to EMR data. Performance was influenced by the choice of class labels and, in the case of unsupervised methods, the number of intervals. In selecting the number of intervals there is generally a trade-off between greater accuracy and greater consistency. Conclusions In general, supervised methods yield higher accuracy, but are constrained to a single specific application. Unsupervised methods do not require class labels and can produce discretized data that can be used for multiple purposes.
Maslove, David M; Podchiyska, Tanya; Lowe, Henry J
Background Our objective was to document the clinical and imaging features of Othello's syndrome (delusional jealousy). Methods The study design was a retrospective case series of 105 patients with Othello's syndrome that were identified by using the Electronic Medical Record system of Mayo Clinic. Results The average age at onset of Othello's syndrome was 68 (25�94) years with 61.9% of patients being male. Othello's syndrome was most commonly associated with a neurological disorder (73/105) compared with psychiatric disorders (32/105). Of the patients with a neurological disorder, 76.7% had a neurodegenerative disorder. Seven of eight patients with a structural lesion associated with Othello's syndrome had right frontal lobe pathology. Voxel-based morphometry showed greater grey matter loss predominantly in the dorsolateral frontal lobes in the neurodegenerative patients with Othello's compared to matched patients with neurodegenerative disorders without Othello's syndrome. Treatment success was notable for patients with dopamine agonist induced Othello's syndrome in which all six patients had improvement in symptoms following decrease in medication. Conclusions This study demonstrates that Othello's syndrome occurs most frequently with neurological disorders. This delusion appears to be associated with dysfunction of the frontal lobes, especially right frontal lobe.
Graff-Radford, Jonathan; Whitwell, Jennifer L.; Geda, Yonas E.; Josephs, Keith A.
Agrypnia excitata: clinical features and pathophysiological implications.
Fatal familial insomnia, Morvan's chorea and delirium tremens share the same clinical features: severe insomnia and mental confusion with dream enactment, associated with motor and autonomic activation. Polygraphically, they share an inability to generate slow wave sleep. Agrypnia excitata is the term which aptly defines this peculiar medical condition. In fatal familial insomnia, the syndrome is due to a functional imbalance between activating and deactivating structures within the limbic system provoked by the atrophy of the mediodorsal and anteroventral thalamic nuclei. In Morvan's chorea and delirium tremens, a functional imbalance within the thalamolimbic circuits might be explained by the accumulation of some antireceptor antibodies and by a transient prevalence of excitatory over inhibitory synapses, down-regulated by chronic alcohol abuse, respectively. The selective disappearance of slow sleep (i.e. sleep spindles and delta rhythms) characterizing the agrypnia excitata syndrome, together with other clinical and experimental findings, suggests that sleep can be divided into three types. The most archaic form of sleep corresponding to stage 1 non-REM sleep is shared by man and poikilothermic animals and generated within activating and deactivating neuronal poles located in the basal forebrain, hypothalamus and brain stem; the other two forms of sleep, slow wave sleep and paradoxical sleep, confined to homeothermic animals, are generated in the thalamus and pontine reticular formation respectively. 2001 Harcourt Publishers Ltd PMID:12530995
Lugaresi, Elio; Provini, Federica
LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1.
Defects in complex I due to mutations in mitochondrial DNA are associated with clinical features ranging from single organ manifestation like Leber hereditary optic neuropathy (LHON) to multiorgan disorders like mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome. Specific mutations cause overlap syndromes combining several phenotypes, but the mechanisms of their biochemical effects are largely unknown. The m.3376G>A transition leading to p.E24K substitution in ND1 with LHON/MELAS phenotype was modeled here in a homologous position (NuoH-E36K) in the Escherichia coli enzyme and it almost totally abolished complex I activity. The more conservative mutation NuoH-E36Q resulted in higher apparent K(m) for ubiquinone and diminished inhibitor sensitivity. A NuoH homolog of the m.3865A>G transition, which has been found concomitantly in the overlap syndrome patient with the m.3376G>A, had only a minor effect. Consequences of a primary LHON-mutation m.3460G>A affecting the same extramembrane loop as the m.3376G>A substitution were also studied in the E. coli model and were found to be mild. The results indicate that the overlap syndrome-associated m.3376G>A transition in MTND1 is the pathogenic mutation and m.3865A>G transition has minor, if any, effect on presentation of the disease. The kinetic effects of the NuoH-E36Q mutation suggest its proximity to the putative ubiquinone binding domain in 49kD/PSST subunits. In all, m.3376G>A perturbs ubiquinone binding, a phenomenon found in LHON, and decreases the activity of fully assembled complex I as in MELAS. PMID:22079202
P�tsi, Jukka; Maliniemi, Pilvi; Pakanen, Salla; Hinttala, Reetta; Uusimaa, Johanna; Majamaa, Kari; Nystr�m, Thomas; Kervinen, Marko; Hassinen, Ilmo E
Metabolic interventions against complex I deficiency in MELAS syndrome.
The mitochondrial DNA (mtDNA) codes for essential hydrophobic components of the system of oxidative phosphorylation. Diseases caused by mtDNA defects are manifested as variable clinical phenotypes and the symptoms represent the involvement of tissues with high energy demand. Various approaches have been taken to treat mitochondrial diseases by administration of redox compounds, enzyme activators, vitamins and coenzymes or dietary measures. The MELAS mutation at the base pair 3243 of mitochondrial DNA demolishes a transcription termination sequence located within the tRNA(Leu)[UUR] gene, resulting in synthesis of an abnormally large derivative of 16 S rRNA and defective translation. The activity of NADH:Q oxidoreductase (complex I) is often decreased and lactic acidosis is a typical clinical finding. We hypothesized that defective translation of the seven mitochondrially coded subunits (of the total 41) of complex I may alter its affinity to the NADH substrate in which case the activity decrease may be compensated for by increasing the NADH concentration. A MELAS patient was treated with oral nicotinamide for 5 months. The blood NAD content representing the NAD + NADH pool of erythrocytes rose 24 fold and the blood lactate + pyrovate concentration fell by 50%. All these metabolic alterations suggested an improvement of the function of complex I or the whole mitochondrial respiratory chain. However, the kinetic properties of the patient's complex I were similar to the reference values. A tempting explanation is that the free NADH concentration in mitochondria is normally at the level of K(m), so that the decreased activity of the respiratory chain can be compensated for by increased mitochondrial [NADH]. Another possibility would be that the substrate shuttles for transport of reducing power of cytosolic NADH into mitochondria (the malate aspartate or glycerol-3-phosphate shuttles) may be enhanced by increased total NAD + NADH. Because the malate-aspartate shuttle is actually a pump for reducing equivalents driven by the mitochondrial membrane energization, it is proposed that the exacerbations of the MELAS syndrome be partly due to a vicious circle initiated by a defect of complex I and affecting the active transport of the hydrogen from cytosolic NADH into the mitochondrion. PMID:9309702
Majamaa, K; Rusanen, H; Remes, A; Hassinen, I E
Population prevalence of the MELAS A3243G mutation.
We aimed to establish the population prevalence of the MELAS 3243A>G mtDNA mutation in a large Caucasian-based population (n=2954; 99% Caucasian, 57% women and mean age of 66.4 years). All participants underwent comprehensive clinical evaluation including audiologic testing. We detected the 3243A>G mutation in seven subjects using standard polymerase chain reaction/restriction fragment length polymorphism methods, establishing a population prevalence of 236/100000 (0.24%; 95% CI 0.10-0.49%); much higher than previously reported. All had mild to moderate hearing loss. Our findings indicate that subjects with the 3243A>G mtDNA mutation could be markedly under-recognised in the community. PMID:17300999
Manwaring, Neil; Jones, Michael M; Wang, Jie Jin; Rochtchina, Elena; Howard, Chris; Mitchell, Paul; Sue, Carolyn M
Clinical features of immediate hypersensitivity to isopropylantipyrine.
Hypersensitivities induced by isopropylantipyrine (IPA), a pyrazolone derivative within the wider family of non-steroidal anti-inflammatory drugs (NSAIDs), are rarely reported. We characterized the clinical features of 12 patients with IPA-induced hypersensitivity. Twelve patients with immediate hypersensitivity to IPA were enrolled and classified into two groups: group I, consisting of eight patients (66.7%) with selective hypersensitivity; and group II, consisting of four patients (33.3%) showing cross-intolerance to other NSAIDs. Skin prick and intradermal and oral provocation tests with IPA were performed. To confirm selective hypersensitivity, an aspirin oral provocation test was also conducted. The most common manifestations were cutaneous reactions (91.7%), followed by anaphylaxis (66.7%), respiratory (41.7%), ocular (16.7%), and gastrointestinal reactions (16.7%). The median age and the median age at onset were 34.5 (range, 23-55) years and 28.0 (range, 7-47) years, respectively. In both groups I and II, all patients showed negative responses to skin prick testing, whereas only two patients in group I were positive in response to intradermal IPA tests. The response time after drug exposure was shorter in group I than in group II. Here, we report on two types of IPA hypersensitivity: selective and cross-intolerant NSAID hypersensitivity. An immediate IgE-mediated reaction may be involved in patients with selective hypersensitivity, whereas a cyclooxygenase-1-related inhibition mechanism may be a responsible mechanism for the patients with cross-intolerance to multiple NSAIDs. PMID:23277879
Hwang, Eui-Kyung; Nam, Young-Hee; Jin, Hyun Jung; Shin, Yoo Seob; Ye, Young-Min; Park, Hae-Sim
Childhood Pars Planitis; Clinical Features and Outcomes
Purpose To evaluate the demographic and clinical features of childhood pars planitis, and to determine the therapeutic and visual outcomes of the disease. Methods Medical records of pediatric patients (less than 16 years of age at diagnosis) with pars planitis and at least 6 months of follow-up who were referred to Labbafinejad Medical Center, Tehran, Iran over a 22 year period were reviewed. Results Overall, 117 eyes of 61 patients including 51 (83.6%) male subjects were included. Mean age at the time of diagnosis was 7.8�3.2 (range, 3�16) years. Mean best corrected visual acuity (BCVA) was 0.88�0.76 logMAR at presentation which improved to 0.39�0.51 logMAR at final visit (P<0.001). Endotheliitis was present in 23 (19.6%) eyes and was significantly more prevalent in subjects younger than 9 years (P=0.025). Cataract formation (41.9%) and cystoid macular edema (19.7%) were the most prevalent complications. Univariate regression analysis showed that better baseline visual acuity (OR=0.38, 95%CI 0.21�0.70, P=0.002), age older than 5 years at disease onset (OR=0.36, 95%CI 0.14�0.9, P=0.029), absence of endotheliitis (OR=0.39, 95%CI 0.15�0.99, P=0.047) and female gender (OR=3.77, 95%CI 1.03�13.93, P=0.046) were significantly associated with final BCVA of 20/40 or better. Conclusion Childhood pars planitis was much more common among male subjects. Endotheliitis may be a sign of inflammation spillover and is more prevalent in younger patients. Visual prognosis is favorable in most patients with appropriate treatment.
Nikkhah, Homayoon; Ramezani, Alireza; Ahmadieh, Hamid; Soheilian, Masoud; Azarmina, Mohsen; Dehghan, Mohammad-Hossein; Moradian, Siamak; Nourinia, Ramin
Clinical Features of Immediate Hypersensitivity to Isopropylantipyrine
Hypersensitivities induced by isopropylantipyrine (IPA), a pyrazolone derivative within the wider family of non-steroidal anti-inflammatory drugs (NSAIDs), are rarely reported. We characterized the clinical features of 12 patients with IPA-induced hypersensitivity. Twelve patients with immediate hypersensitivity to IPA were enrolled and classified into two groups: group I, consisting of eight patients (66.7%) with selective hypersensitivity; and group II, consisting of four patients (33.3%) showing cross-intolerance to other NSAIDs. Skin prick and intradermal and oral provocation tests with IPA were performed. To confirm selective hypersensitivity, an aspirin oral provocation test was also conducted. The most common manifestations were cutaneous reactions (91.7%), followed by anaphylaxis (66.7%), respiratory (41.7%), ocular (16.7%), and gastrointestinal reactions (16.7%). The median age and the median age at onset were 34.5 (range, 23-55) years and 28.0 (range, 7-47) years, respectively. In both groups I and II, all patients showed negative responses to skin prick testing, whereas only two patients in group I were positive in response to intradermal IPA tests. The response time after drug exposure was shorter in group I than in group II. Here, we report on two types of IPA hypersensitivity: selective and cross-intolerant NSAID hypersensitivity. An immediate IgE-mediated reaction may be involved in patients with selective hypersensitivity, whereas a cyclooxygenase-1-related inhibition mechanism may be a responsible mechanism for the patients with cross-intolerance to multiple NSAIDs.
Hwang, Eui-Kyung; Nam, Young-Hee; Jin, Hyun Jung; Shin, Yoo Seob; Ye, Young-Min
Epidermolytic acanthomas: clinical characteristics and immunohistochemical features.
Epidermolytic hyperkeratosis in bullous congenital ichthyosiform erythroderma results from mutations in the K1 and K10 genes. Epidermolytic acanthomas are solitary or multiple lesions with microscopic features that are identical to those in bullous congenital ichthyosiform erythroderma. In this study, the clinical and epidemiologic characteristics of epidermolytic acanthomas were summarized, and the expression of keratins (using antibodies to K1, K6, K10, K14, K16, and K19) in five solitary epidermolytic acanthomas was determined using immunohistochemistry techniques. The intensity of staining for K1 and K10 was (a) less in the altered granular layer, as compared to the adjacent nonaltered granular layer of the lesional skin, and (b) less in the lesional skin as compared to the perilesional, histologically normal-appearing skin. Expression of K6 and K16 was noted not only in the basal layer and suprabasal layers of the lesions, but also in the corresponding layers of the adjacent normal skin. Staining for K14 was also observed in the basal layers and suprabasal layers of the lesional and adjacent normal epidermis; within the lesional and perilesional normal skin, the intensity of positive staining for K14 was greater in the basal layers than in the suprabasal layers of the epidermis. The specimens did not stain for K19. In conclusion, using immunohistochemistry techniques on solitary epidermolytic acanthomas, we were able to demonstrate (1) an abnormality in K1 and K10 expression in the lesional skin as compared to the adjacent, histologically normal-appearing skin and (b) the expression of hyperproliferative keratins not only with the lesional skin, but also in the perilesional normal skin. We hypothesize that the pathogenesis of epidermolytic hyperkeratosis in lesions of solitary epidermolytic acanthomas results from mutations in the K1 and K10 genes. PMID:9185908
Cohen, P R; Ulmer, R; Theriault, A; Leigh, I M; Duvic, M
Comorbid psychiatric disorders in depressed outpatients: Demographic and clinical features
BackgroundThis study evaluated the clinical and sociodemographic features associated with various degrees of concurrent comorbidity in adult outpatients with nonpsychotic major depressive disorder (MDD).
A. John Rush; Mark Zimmerman; Stephen R. Wisniewski; Maurizio Fava; Steven D. Hollon; Diane Warden; Melanie M. Biggs; Kathy Shores-Wilson; Richard C. Shelton; James F. Luther; Brandi Thomas; Madhukar H. Trivedi
Clinical Features of the Polycystic Ovary Syndrome
The features of polycystic ovary syndrome (PCOS) may be elicitable on obtaining the history or on physical exam. Biochemical\\u000a or radiographic evaluation may also reveal additional features (see Chapters 16 and 17). The medical history will provide important information regarding the presenting complaint, the onset\\u000a and progression of hyperandrogenic signs and symptoms, menstrual dysfunction and irregularity, and weight gain. Usually,
Walter Futterweit; Evanthia Diamanti-Kandarakis; Ricardo Azziz
Neurosarcoidosis: clinical features, diagnosis, and management.
Sarcoidosis is a multisystemic granulomatous disease, which uncommonly affects nervous system. However, when present, it may affect both central and peripheral nervous systems and potentially mimics other chronic diseases of the nervous system. Pathogenesis of neurosarcoidosis remains largely unknown, and its diagnosis and management pose serious challenges to clinicians. Early diagnosis and aggressive treatment of neurosarcoidosis are necessary to produce satisfactory clinical outcomes. This review discusses clinical manifestations, current diagnostic studies, and currently available modalities for management of neurosarcoidosis. PMID:19092637
Schwendimann, Robert N; Harris, Meghan K; Elliott, Debra G; Menon, Uma; Gonzalez-Toledo, Eduardo; Zivadinov, Robert; Pressly, Thomas A; Kelley, Roger E; Hoque, Romy; Fowler, Marjorie; Maghzi, Amir H; Etemadifar, Masoud; Saadatnia, Mohammad; Minagar, Alireza
MELAS masquerading as a systemic vasculitis.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke (MELAS) is a mitochondrial genetic disorder caused by a point mutation, resulting in the substitution of guanine for adenine at nucleotide 3243 (A3243G). It is a multisystem disorder with variable manifestations and typically presents between the first and third decades of life. It should be suspected if a patient exhibits stroke-like episodes before age 40, encephalopathy characterized by seizures, dementia, or both, and lactic acidosis, ragged-red fibers in muscle, or both. We present the case of a 26-year-old white man suspected with primary central nervous system vasculitis admitted to our facility with profound constipation from severe intestinal dysmotility. Although his gastrointestinal and neurologic symptoms did not meet criteria for a specific vasculitic syndrome, his symptoms and blood test abnormalities were concerning for such a process. MELAS was included in our differential diagnosis because his symptoms failed to fit a defined vasculitic process. When genetic testing documented the presence of the point mutation A3243G, his diagnosis was changed. This case illustrates the importance of considering a mitochondrial genetic disorder in the differential diagnosis of patients who present to Rheumatologists with suspected unusual or atypical vasculitic symptoms. PMID:18176143
Carroll, Matthew B
Mycoplasma pneumonia: Clinical features and management
Mycoplasma pneumonia is a common respiratory pathogen that produces diseases of varied severity ranging from mild upper respiratory tract infection to severe atypical pneumonia. Apart from respiratory tract infections, this organism is also responsible for producing a wide spectrum of non-pulmonary manifestations including neurological, hepatic, cardiac diseases, hemolytic anemia, polyarthritis and erythema multiforme. This review focuses on molecular taxonomy, biological characteristics, epidemiology, clinical presentation, radiology and various laboratory tools in diagnosis, differential diagnosis, treatment and prevention of mycoplasma pneumonia.
Kashyap, Surender; Sarkar, Malay
Clinical Features of Celiac Disease Today
The clinical spectrum of celiac disease has widened over the past decades. The condition is no longer a severe malabsorption syndrome. Instead, a typical celiac disease patient today has merely mild abdominal symptoms. Malabsorption can be subclinical or absent, and there is usually only moderate, if any, loss of weight. Simultaneously, the current prevalence has increased from 1:1,000 to 1:300
Pekka Collin; Katri Kaukinen; Markku M�ki
Benign Occipital Epilepsies of Childhood: Clinical Features and Genetics
ERIC Educational Resources Information Center
The early and late benign occipital epilepsies of childhood (BOEC) are described as two discrete electro-clinical syndromes, eponymously known as Panayiotopoulos and Gastaut syndromes. Our aim was to explore the clinical features, classification and clinical genetics of these syndromes using twin and multiplex family studies to determine whether�
Taylor, Isabella; Berkovic, Samuel F.; Kivity, Sara; Scheffer, Ingrid E.
[Clinical and ultrasound features of congenital hypothyroidism].
Congenital hypothyroidism is a condition where a newborn has decreased or absent thyroid function and thyroid hormone production. It is the most common cause of preventable mental retardation and its early diagnosis can only be achieved through systematic neonatal screening because its clinical manifestations are usually late. The etiologic study of this condition relies heavily on nuclear medicine and ultrasound, describing various findings. This research analyzed the characteristics of the ultrasound patterns observed in these children and their correlation with the most common etiologies. The use of ultrasound allows selecting children that require scintigraphic studies, decreasing the use of radiation in neonates. PMID:25079191
Mo�nne B, Karla; Ortega E, Ximena; P�rez M, Manuela; Mericq G, Ver�nica
Nemaline myopathy: clinical, histochemical and immunohistochemical features.
Nemaline myopathy (NM) is a congenital disease that leads to hypotonia and feeding difficulties in neonates. Some cases have a more benign course, with skeletal abnormalities later in life. We analyzed a series of eight patients with NM obtained from a retrospective analysis of 4300 muscle biopsies. Patients were classified as having the typical form in five cases, intermediate form in two cases and severe form in one case. Histochemical analysis showed mixed rods distribution in all cases and predominance of type I fibers in five cases. Immunohistochemical analysis showed abnormal nebulin expression in all patients (four heterogeneous and four absent), homogeneous desmin expression in four cases, strongly positive in three and absent in one, fast myosin expression in a mosaic pattern in six cases and absent in two cases. There was no specific relation between these protein expression patterns and the clinical forms of NM. PMID:19838523
Youssef, Nazah Cherif Mohamad; Scola, Rosana Herminia; Lorenzoni, Paulo Jos�; Werneck, Lineu C�sar
Long Range View of Melas Chasma
NASA Technical Reports Server (NTRS)This image is a mosaic of day and night infrared images of Melas Chasma taken by the camera system on NASA.s Mars Odyssey spacecraft. The daytime temperature images are shown in black and white, superimposed on the martian topography. A single nighttime temperature image is superimposed in color. The daytime temperatures range from approximately -35 degrees Celsius (-31 degrees Fahrenheit) in black to -5 degrees Celsius (23 degrees Fahrenheit) in white. Landslides flowed over 100 kilometers (62 miles) across the floor of Melas Chasma. They produced deposits with ridges and grooves of alternating warm and cold materials that can still be seen. The temperature differences in this image are due primarily to lighting effects, where sunlit slopes are warm (bright) and shadowed slopes are cool (dark). The nighttime temperature differences are due to differences in the abundance of rocky materials that retain their heat at night and stay relatively warm (red). Fine grained dust and sand (blue) cools off more rapidly at night. These images were acquired using the thermal infrared imaging system infrared B and 9, centered at 12.6 micrometers.Jet Propulsion Laboratory, a division of the California Institute of Technology in Pasadena, manages the 2001 Mars Odyssey mission for NASA's Office of Space Science in Washington, D.C. Investigators at Arizona State University in Tempe, the University of Arizona in Tucson and NASA's Johnson Space Center, Houston, operate the science instruments. Additional science partners are located at the Russian Aviation and Space Agency and at Los Alamos National Laboratories, New Mexico. Lockheed Martin Astronautics, Denver, is the prime contractor for the project, and developed and built the orbiter. Mission operations are conducted jointly from Lockheed Martin and from JPL.
LEOPARD Syndrome: Clinical Features and Gene Mutations
The RAS/MAPK pathway proteins with germline mutations in their respective genes are associated with some disorders such as Noonan, LEOPARD (LS), neurofibromatosis type 1, Costello and cardio-facio-cutaneous syndromes. LEOPARD is an acronym, mnemonic for the major manifestations of this disorder, characterized by multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Though it is not included in the acronym, hypertrophic cardiomyopathy is the most frequent cardiac anomaly observed, representing a potentially life-threatening problem in these patients. PTPN11, RAF1 and BRAF are the genes known to be associated with LS, identifying molecular genetic testing of the 3 gene mutations in about 95% of affected individuals. PTPN11 mutations are the most frequently found. Eleven different missense PTPN11 mutations (Tyr279Cys/Ser, Ala461Thr, Gly464Ala, Thr468Met/Pro, Arg498Trp/Leu, Gln506Pro, and Gln510Glu/Pro) have been reported so far in LS, 2 of which (Tyr279Cys and Thr468Met) occur in about 65% of the cases. Here, we provide an overview of clinical aspects of this disorder, the molecular mechanisms underlying pathogenesis and major genotype-phenotype correlations.
Martinez-Quintana, E.; Rodriguez-Gonzalez, F.
The AIDS dementia complex: I. Clinical features.
Of 70 autopsied patients with the acquired immune deficiency syndrome (AIDS), 46 suffered progressive dementia that was frequently accompanied by motor and behavioral dysfunction. Impaired memory and concentration with psychomotor slowing represented the most common early presentation of this disorder, but in nearly one half of the patients either motor or behavioral changes predominated. Early motor deficits commonly included ataxia, leg weakness, tremor, and loss of fine-motor coordination, while behavioral disturbances were manifested most commonly as apathy or withdrawal, but occasionally as a frank organic psychosis. The course of the disease was steadily progressive in most patients, and at times was punctuated by an abrupt acceleration. However, in 20% of patients a more protracted indolent course was observed. In the most advanced stage of this disease, patients exhibited a stereotyped picture of severe dementia, mutism, incontinence, paraplegia, and in some cases, myoclonus. The high incidence and unique clinical presentation of this AIDS dementia complex is consistent with the emerging concept that this complication is due to direct brain infection by the retrovirus that causes AIDS. PMID:3729308
Navia, B A; Jordan, B D; Price, R W
[Narcolepsy: etiology, clinical features, diagnosis and treatment].
�Narcolepsy is a chronic hypersomnia characterized by excessive daytime sleepiness (EDS) and manifestations of disrupted rapid eye movement sleep stage (cataplexy, sleep paralysis, and hypnagogic/hypnopompic hallucinations). Mechanisms underlying narcolepsy are not fully understood. Experimental data indicate that the disease is caused by a loss of hypocretin neurons in the hypothalamus, likely due to an autoimmune process triggered by environmental factors in susceptible individuals. Most patients with narcolepsy and cataplexy have very low hypocretin-1 levels in the cerebrospinal fluid. An appropriate clinical history, polysomnogram, and multiple sleep latency test are necessary for diagnosis of the disease. Additionally, two biological markers, i.e., cerebrospinal fluid hypocretin-1 levels and expression of the DQB1*0602 gene, are used. The treatment of narcolepsy is aimed at the different symptoms that the patient manifests. Excessive daytime sleepiness is treated with psychostimulants (amphetamine-like, modafinil and armodafinil). Cataplexy is treated with sodium oxybate (GHB), tricyclic antidepressants, or selective serotonin and noradrenaline reuptake inhibitors. Sleep paralysis, hallucinations, and fragmented sleep may be treated with sodium oxybate. Patients with narcolepsy should follow proper sleep hygiene and avoid strong emotions. PMID:23175331
Zawilska, Jolanta B; Woldan-Tambor, Agata; P?ocka, Anna; Ku?ajska, Katarzyna; Wojcieszak, Jakub
[Clinical features of accessory parotid gland tumors].
Accessory parotid gland tumors are relatively rare; hence, adequately detailed clinical analyses of these tumors are difficult to perform at a single institution. In this report, we describe the findings for 65 patients [29 men, 36 women; median age, 51 (9-81) years] with accessory parotid gland tumors, consisting of 4 cases documented by us and 61 cases previously reported by other Japanese authors. Approximately 50% of the patients were treated in an otolaryngology department, while the remaining patients were treated in plastic surgery, oral surgery, or dermatology departments. In 4 patients, the results of preoperative fine-needle aspiration cytology indicated that the tumor was benign; however, the postoperative histopathology results revealed malignant tumors. The frequencies of malignant and benign tumors were 44.6% (n = 29) and 55.4% (n = 36), respectively. Mucoepidermoid carcinoma and pleomorphic adenoma were the most frequent types of malignant and benign accessory parotid gland tumors, respectively. Among the various surgical methods that were used, such as direct cheek and intraoral incisions, a standard parotidectomy incision was the most preferred treatment approach for these tumors. Recently, an endoscopic approach has also been found to yield satisfactory results. An optimal approach should be selected after evaluating the advantages and disadvantages of these methods. No definite guidelines are available regarding the choice of elective neck dissection and postoperative radiation therapy for malignant accessory parotid gland tumors. Although tumor resection (plus elective neck dissection) and postoperative radiation therapy have been frequently performed for various kinds of malignant accessory parotid gland tumors to date, additional studies are needed regarding the criteria for selecting elective neck dissection and postoperative radiation therapy. Since the malignancy rate for accessory parotid gland tumors is higher than that for parotid gland tumors, the possibility of malignancy (especially mucoepidermoid carcinoma and carcinoma ex pleomorphic adenoma) should be considered when resecting accessory parotid gland tumors, even if the results of preoperative fine-needle aspiration cytology indicate that the tumor is benign. PMID:24558945
Iguchi, Hiroyoshi; Wada, Tadashi; Yamamoto, Hidefumi; Yamada, Kei; Matsushita, Naoki; Okamoto, Sachimi; Teranishi, Yuichi; Koda, Yuki; Kosugi, Yuki; Yamane, Hideo
[Clinical features in patients with polymyalgia rheumatica].
Polymyalgia rheumatica (PMR) is an inflammatory disease of unknown etiology affecting elderly patients and characterized by muscle pain and morning stiffness in proximal areas (pelvic and shoulder girdles and neck). It is sometimes difficult to distinguish PMR from rheumatoid arthritis (RA), or vasculitis. In the present study, we examined the clinical characteristics of the patients diagnosed with PMR in our hospital retrospectively. There were 44 patients with the median age of 71s. Eighty percent of the patients were in their 60s or 70s, and 3 patients (6.8%) were in there 50s or younger. There was no sex preponderance in frequency. Fifteen patients (34%) presented with both proximal and distal muscle pain. Arthritis occurred in 16 patients (36%), the half of which was monarthritis or oligoarthritis, and was more involved in wrist or knee joint. Only 3 patients had temporal arteritis (TA) complicated with PMR. Mean of maximum serum CRP was 8.18 mg/dl, and rheumatoid factor and anti-CCP antibodies were positive in 2 patients and a patient, respectively. There was no patient positive for ANCA. Serum MMP-3 levels tended to be higher in female patients. Median of maximum prednisolone (PSL) dose used for the treatment was 0.195 mg/kg of body weight daily. No patient needed any immunosuppressants. In the 26 patients we had a chance to follow, there were no patients who developed RA 6 months after the initial diagnosis. Progression from PMR to RA was reported, and mean period between the diagnosis of PMR and RA was one to 5 years. PMID:19721349
Aoki, Yoko; Iwamoto, Masahiro; Minota, Seiji
Orbital cysts of childhood�classification, clinical features, and management
There is little in the literature about the clinical spectrum of orbital cysts of childhood and no comprehensive classification has been proposed. The authors propose a classification of orbital cysts of childhood and review their clinical features, pathology, and management. The major categories in the classification include cysts of surface epithelium, teratomatous cysts, neural cysts, secondary cysts, inflammatory cysts, and
Jerry A Shields; Carol L Shields
Spontaneous rectus sheath hematomas: clinical and radiological features
.�� We reviewed the clinical and radiological features in eight patients with spontaneous rectus sheath hematoma (RSH). The diagnosis\\u000a was confirmed at surgery in four patients, and spontaneous resolution occurred in the other four. All patients were elderly\\u000a adults. Acute abdominal pain and a palpable mass after muscular strain, such as coughing or twisting, were features highly\\u000a suggestive of RSH.
T. Fukuda; I. Sakamoto; S. Kohzaki; M. Uetani; M. Mori; T. Fujimoto; K. Hayashi; S. Matsuo
Anopheles melas is a brackish water-breeding member of the An. gambiae complex that is distributed along the coast of West Africa and is a major malaria vector within its range. Because little is known about the population structure of this species, we analyzed 15 microsatellite markers and 1,161 bp of mtDNA in 11 An. melas populations collected throughout its range. Compared to its sibling species An. gambiae, An. melas populations have a high level of genetic differentiation between them, representing its patchy distribution due to its fragmented larval habitat which is associated with mangroves and salt marsh grass. Populations clustered into three distinct groups representing Western Africa, Southern Africa, and Bioko Island populations that appear to be mostly isolated. Fixed differences in the mtDNA are present between all three clusters, and a Bayesian clustering analysis of the microsatellite data found no evidence for migration from mainland to Bioko Island populations, and little migration was evident between the Southern to the Western cluster. Surprisingly, mtDNA divergence between the three An. melas clusters is on par with levels of divergence between other species of the An. gambiae complex, and no support for monophyly was observed in a maximum likelihood phylogenetic analysis. Finally, an Approximate Bayesian Analysis of microsatellite data indicates that Bioko Island An. melas populations were connected to the mainland populations in the past, but became isolated, presumably when sea levels rose after the last glaciation period (?10,000-11,000 years ago). This study has exposed species level genetic divergence within An. melas, and also has implications for control of this malaria vector.
Deitz, Kevin C; Athrey, Giri; Reddy, Michael R; Overgaard, Hans J; Matias, Abrahan; Jawara, Musa; della Torre, Alessandra; Petrarca, Vincenzo; Pinto, Joao; Kiszewski, Anthony; Kengne, Pierre; Costantini, Carlo; Caccone, Adalgisa; Slotman, Michel A
Genetic isolation within the malaria mosquito Anopheles melas.
Anopheles melas is a brackish water-breeding member of the Anopheles gambiae complex that is distributed along the coast of West Africa and is a major malaria vector within its range. Because little is known about the population structure of this species, we analysed 15 microsatellite markers and 1161 bp of mtDNA in 11 A. melas populations collected throughout its range. Compared with its sibling species A. gambiae, A. melas populations have a high level of genetic differentiation between them, representing its patchy distribution due to its fragmented larval habitat that is associated with mangroves and salt marsh grass. Populations clustered into three distinct groups representing Western Africa, Southern Africa and Bioko Island populations that appear to be mostly isolated. Fixed differences in the mtDNA are present between all three clusters, and a Bayesian clustering analysis of the microsatellite data found no evidence for migration from mainland to Bioko Island populations, and little migration was evident between the Southern to the Western cluster. Surprisingly, mtDNA divergence between the three A. melas clusters is on par with levels of divergence between other species of the A. gambiae complex, and no support for monophyly was observed in a maximum-likelihood phylogenetic analysis. Finally, an approximate Bayesian analysis of microsatellite data indicates that Bioko Island A. melas populations were connected to the mainland populations in the past, but became isolated, presumably when sea levels rose after the last glaciation period (?10 000-11 000 bp). This study has exposed species-level genetic divergence within A. melas and also has implications for control of this malaria vector. PMID:22882458
Deitz, Kevin C; Athrey, Giri; Reddy, Michael R; Overgaard, Hans J; Matias, Abrahan; Jawara, Musa; Della Torre, Alessandra; Petrarca, Vincenzo; Pinto, Jo�o; Kiszewski, Anthony E; Kengne, Pierre; Costantini, Carlo; Caccone, Adalgisa; Slotman, Michel A
Clinical and Radiological Features of Brainstem Variant of Hypertensive Encephalopathy
Background: The �posterior reversible leukoencephalopathy� syndrome, generally observed in the setting of severe, acute hypertension, often correlates with radiological abnormalities that involve the occipital lobes and other hemispheric areas. A predominant involvement of the brainstem in this syndrome is rare. Patients: We report three patients with previously known or newly diagnosed severe hypertension, who presented with a combination of headache and visual disturbances, along with diffuse abnormalities demonstrated on magnetic resonance imaging in the brainstem and cerebellum. The absence of clinical features of brainstem or cerebellar dysfunction contrasted with the severity of the radiological abnormalities. Conclusions: We discuss the pathophysiological, clinical, and radiographic features of this variant of posterior reversible leukoencephalopathy.
Karakis, Ioannis; MacDonald, James A.; Stefanidou, Maria; Kase, Carlos S.
Correlation of Clinical Features with Argyrophilic Grains at Autopsy
Argyrophilic grains (AGs) are a pathologic feature found in association with neurodegenerative disease. Some have suggested that these features may occur as a distinctive condition. We reviewed 80 subjects from our tissue bank with pathologically confirmed AGs and identified their clinical features. We compared these subjects' features to the features of subjects with matched clinical diagnoses but without AGs. Subjects with AGs represented 21.7% of the entire autopsy sample from 1999 through 2005 (80/367). Of AD subjects, 43 /233 had AGs (18.4% of AD subjects); 11 /42 PD-D subjects had AGs (26.1% of PDD subjects); 2 / 9 DLB subjects had AGs (22.2% of DLB subjects); 4 /15 MCI subjects had AGs (26.7% of MCI subjects); and 20 /68 cognitively normal subjects had AGs (29.4% of NC). Subjects with AGs tended to be older but only significantly so in AD. Many co-morbid non-neurological health conditions were seen in cases of AGs without any single predilection emerging. AGs occur in approximately 22% of the entire autopsy cohort and likely are associated with advanced age. No distinctive antemortem clinical features were overrepresented in the AG cases. AGs can occur with or without neurodegenerative conditions and can occur in the absence of significant cognitive decline. AGs are not clearly associated with any single co-morbid health condition.
Sabbagh, Marwan N.; Sandhu, Sonny S.; Farlow, Martin R.; Vedders, Linda; Shill, Holly A.; Caviness, John N.; Connor, Donald J; Sue, Lucia; Adler, Charles H.; Beach, Thomas G.
Clinical and Immunological Features in IgM Deficiency
Background: IgM deficiency is a dysgammaglobulinemia characterized by isolated low levels of serum IgM. Patients with IgM deficiency may exhibit various clinical manifestations. However, IgM deficiency still remains to be explored with regard to diagnosis and treatment. Methods: Through a retrospective chart review, we investigated the clinical and immunological features of 15 symptomatic adult IgM-deficient patients who were referred to
Leman Yel; Srinivasan Ramanuja; Sudhir Gupta
Identification of phyllosilicates and sulfates near the southern wall of Melas Chasma on Mars
NASA Astrophysics Data System (ADS)
Melas Chasma is the widest segment of the Valles Marineris on Mars and is located in the center of this canyon system. It contains extensive and highly organized valley networks and layered deposits associated with hydrated minerals. In this study, we use MRO CRISM targeted mode hyperspectral image data (HRL0001900F) centered at 9.7 S, 75.9 W over a portion of the southern wall and nearby floor of Melas Chasma to identify and map phyllosilicate and sulfate-bearing minerals. The study area is located to the northwest of the region where interior layered deposits (ILDs) associated with hydrated sulfates were identified by Liu et al (2012, LPSC, abstract# 2572). The topography associated the deposits was examined using HiRISE digital elevation maps and used along with superposition relationships to help define the stratigraphic order. The bottom of the exposed section consists of a relatively thin layer of monohydrated sulfates characterized by absorption features at 2.1 and 2.39 ?m. Fe-smectite was identified in the rounded deposits above this thin layer based on absorption features at 1.9, 2.29, and 2.4 ?m. The top of this section is dominated by an areally extensive monohydrated sulfate-bearing unit. Detailed results will be presented along with an analysis of the changing aqueous conditions inferred from the mineral associations.
Liu, Y.; Arvidson, R. E.
Diffuse Lewy body disease: clinical features in 15 cases
Fifteen cases of diffuse Lewy body disease were diagnosed on pathological grounds during a single year in one health district. The range and frequency of clinical features contrast strikingly with previous reports. The majority of cases presented with classical levodopa-responsive Parkinson's disease either alone (6 cases) or with mild cognitive impairment (3 cases); the remaining 6 cases presented with cognitive
E J Byrne; G Lennox; J Lowe; R B Godwin-Austen
Transmural colonic ischemia: clinical features and computed tomography findings
Our purpose was to describe the computed tomography features of transmural colonic ischemia in correlation with clinical, laboratory and histopathological findings of 14 patients who underwent colectomy (9 female and 5 male; mean age, 68 years). Seven patients died (50%). Transmural necrosis involved the right colon in 10 patients (10\\/14, or 72%). Eleven patients showed thickened colonic wall (11\\/14, or
Samira Alturkistany; Giovanni Artho; Sharad Maheshwari; Jason Blaichman; Ellen Kao; Beno�t Mesurolle
Clinical Features of Moyamoya Disease in the United States
Background and Purpose�We report the clinical features and longitudinal outcome of the largest cohort of patients with moyamoya disease described from a single institution in the western hemisphere. Moyamoya disease in Asia usually presents with ischemic stroke in children and intracranial hemorrhage in adults. Methods�Our study population included all patients with moyamoya disease evaluated at a university hospital in Houston,
David Chiu; Peter Shedden; Patti Bratina; James C. Grotta
Clinical Features that Distinguish Psychogenic and Essential Tremor
ABSTRACT OBJECTIVE: To seek clinical features that reliably distinguish psychogenic tremor (PT) from essential tremor (ET). BACKGROUND: PT is often manifested by shaking characterized by variable amplitude and frequency, distractibility, suggestibility, and entrainment. The sensitivity and specificity of these findings in differentiating PT and ET have not been systematically examined. METHODS: Patient information was obtained with special attention to the
Christopher Kenney; Alan Diamond; Nicte Mejia; Christine Hunter; Joseph Jankovic
Diffuse Infiltrative Lesion of the Breast: Clinical and Radiologic Features
The purpose of this paper is to show the clinical and radiologic features of a variety of diffuse, infiltrative breast lesions, as well to review the relevant literature. Radiologists must be familiar with the various conditions that can diffusely involve the breast, including normal physiologic changes, benign disease and malignant neoplasm.
An, Yeong Yi; Cha, Eun Suk; Kim, Hyeon Sook; Kang, Bong Joo; Park, Chang Suk; Jung, Na Young; Whang, In Yong; Yoon, Soo Kyung
Novel Form of Intermediate Salla Disease: Clinical and Neuroimaging Features
The objective of this article is to describe the clinical, radiographic, and molecular genetic features of a new intermediate form of free sialic storage disease. Free sialic storage disease is a rare autosomal recessive lysosomal disorder that results from mutations in SLC17A5, a gene that codes for sialin, a lysosomal membrane sialic acid transporting protein. Infantile sialic acid storage disease
Richard P. Morse; Robert Kleta; Joseph Alroy; William A. Gahl
The Clinical and Pathophysiological Features of Malarial Anaemia
This review will focus on the principal clinical and pathophysiological features of the anaemia of falciparum malaria, including\\u000a the problems of treating malarial anaemia, and also will suggest how recent advances in genomics may help our understanding\\u000a of cellular and molecular mechanisms underlying this syndrome.
D. J. Roberts; C. Casals-Pascual; D. J. Weatherall
The clinical and pathophysiological features of malarial anaemia.
This review will focus on the principal clinical and pathophysiological features of the anaemia of falciparum malaria, including the problems of treating malarial anaemia, and also will suggest how recent advances in genomics may help our understanding of cellular and molecular mechanisms underlying this syndrome. PMID:16265890
Roberts, D J; Casals-Pascual, C; Weatherall, D J
Repetitive Behaviors in Autism: Relationships with Associated Clinical Features
ERIC Educational Resources Information Center
Relationships between repetitive behaviors (RBs) and associated clinical features (i.e., cognitive and adaptive functioning levels, sleep problems, medication use, and other behavioral problems) were examined in two groups (High nonverbal IQ greater than or equal to 97 versus Low nonverbal IQ less than or equal to 56) of children with autism�
Gabriels, Robin L.; Cuccaro, Michael L.; Hill, Dina E.; Ivers, Bonnie J.; Goldson, Edward
Clinical features and management of Hadronyche envenomation in man
Using case reports and a review of the literature, the clinical features of envenomation by the genus of Australian funnel web spiders known as Hadronyche are characterised. Five cases are reported here, including the first life-threatening envenomation by Hadronyche species 14 (the Port Macquarie funnel web). Two severe envenomations by Hadronyche cerberea (the Southern Tree funnel web) and one each
Mark K. Miller; Ian M. Whyte; Julian White; Philippa M. Keir
Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases
Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make the exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mtDNA mutations in 61 Korean unrelated families (or isolated patients) with MELAS or MERRF. In particular, the mtDNA sequences were completely determined for 49 patients. From the mutational analysis of mtDNA obtained from blood, 5 confirmed pathogenic mutations were identified in 17 families, and 4 unreported pathogenically suspected mutations were identified in 4 families. The m.3243A>G in the tRNALeu(UUR) was predominantly observed in 10 MELAS families, and followed by m.8344A>G in the tRNALys of 4 MERRF families. Most pathogenic mutations showed heteroplasmy, and the rates were considerably different within the familial members. Patients with a higher rate of mutations showed a tendency of having more severe clinical phenotypes, but not in all cases. This study will be helpful for the molecular diagnosis of mitochondrial diseases, as well as establishment of mtDNA database in Koreans.
Choi, Byung-Ok; Hwang, Jung Hee; Cho, Eun Min; Jeong, Eun Hye; Hyun, Young Se; Jeon, Hyeon Jeong; Seong, Ki Min; Cho, Nam Soo
Catatonia as presenting clinical feature of subacute sclerosing panencephalitis.
Catatonia is not a usual clinical presentation of subacute sclerosing panencephalitis (SSPE), especially in the initial stages of illness. However, there is only one reported case of SSPE presenting as catatonia among children. In this report, however, there were SSPE-specific changes on EEG and the catatonia failed to respond to lorazepam. We describe a case of SSPE in a child presenting as catatonia that presented with clinical features of catatonia and did not have typical EEG findings when assessed at first contact. He responded to lorazepam and EEG changes emerged during the course of follow-up. PMID:24891908
Dayal, Prabhoo; Balhara, Yatan Pal Singh
Catatonia as presenting clinical feature of subacute sclerosing panencephalitis
Catatonia is not a usual clinical presentation of subacute sclerosing panencephalitis (SSPE), especially in the initial stages of illness. However, there is only one reported case of SSPE presenting as catatonia among children. In this report, however, there were SSPE-specific changes on EEG and the catatonia failed to respond to lorazepam. We describe a case of SSPE in a child presenting as catatonia that presented with clinical features of catatonia and did not have typical EEG findings when assessed at first contact. He responded to lorazepam and EEG changes emerged during the course of follow-up.
Dayal, Prabhoo; Balhara, Yatan Pal Singh
Hemorrhagic moyamoya disease in children: clinical features and surgical outcome
Objective��The clinical presentation of moyamoya disease (MMD) typically includes cerebral ischemia in children and intracranial hemorrhage\\u000a in adults. Because of its rarity, the benefit of surgery in the hemorrhagic type of pediatric MMD has not been clearly established.\\u000a The purpose of this study was to delineate the clinical features and surgical outcome of hemorrhagic MMD in children.\\u000a \\u000a \\u000a \\u000a \\u000a Methods��Thirteen patients (six
Jun Hyong Ahn; Kyu-Chang Wang; Ji Hoon Phi; Ji Yeoun Lee; Byung-Kyu Cho; Seung-Ki Kim
Clinical features of olfactory disorders in patients seeking medical consultation
Background Olfactory disorders are common complaints in ENT clinics. We investigated causes and relevant features of olfactory disorders and the need for gustatory testing in patients with olfactory dysfunction. Material/Methods A total of 140 patients seeking medical consultations were enrolled. All patients were asked about their olfactory disorders in a structured interview of medical history and underwent thorough otolaryngologic examinations and imaging of the head. Results Causes of olfactory disorders were classified as: upper respiratory tract infection (URTI), sinonasal diseases (NSD), head trauma, idiopathic, endoscopic sinus surgery, congenital anosmia, and other causes. Each of the various causes of olfactory dysfunction had its own distinct clinical features. Nineteen of 54 patients whose gustation was assessed had gustatory disorders. Conclusions The leading causes of olfactory dysfunction were URTI, NSD, head trauma, and idiopathic causes. Gustatory disorders were fairly common in patients with olfactory dysfunction. High priority should be given to complaints of olfactory disorders.
Chen, Guowei; Wei, Yongxiang; Miao, Xutao; Li, Kunyan; Ren, Yuanyuan; Liu, Jia
Acute Lymphocytic Leukemia � Clinical Features and Making the Diagnosis
\\u000a The clinical presentation of acute lymphocytic leukemia (ALL) may range from insidious nonspecific symptoms to severe acute\\u000a life-threatening manifestations, reflecting the extent of bone marrow involvement and degree of extramedullary spread (Table\\u000a 2.1). In younger patients anemia-induced fatigue may be the only presenting feature. Dyspnea, angina, dizziness, and lethargy\\u000a may reflect the degree of anemia in older patients presenting with
Olga Frankfurt; LoAnn Petersen; Martin S. Tallman
The clinical features of the piriformis syndrome: a systematic review
Piriformis syndrome, sciatica caused by compression of the sciatic nerve by the piriformis muscle, has been described for\\u000a over 70�years; yet, it remains controversial. The literature consists mainly of case series and narrative reviews. The objectives\\u000a of the study were: first, to make the best use of existing evidence to estimate the frequencies of clinical features in patients\\u000a reported to
Kevork Hopayian; Fujian Song; Ricardo Riera; Sidha Sambandan
Clinical features and respiratory complications in Myhre syndrome
We describe the clinical characteristics of 4 singleton cases, 3 males and 1 female, with Myhre Syndrome (OMIM 139210), who were born to non-consanguineous parents. Three cases had no family history of similarly affected individuals but 1 male�s mother had short stature, some facial features suggestive of Myhre syndrome and evidence of skewed X-chromosome inactivation in her blood DNA. Short
Ruth McGowan; Ramkumar Gulati; Pamela McHenry; Alexander Cooke; Sandra Butler; Wee Teik Keng; Victoria Murday; Margo Whiteford; Frederik G. Dikkers; Brigit Sikkema-Raddatz; Ton van Essen; John Tolmie
Difference of clinical features in childhood Mycoplasma pneumoniae pneumonia
BACKGROUND: M. pneumoniae pneumonia (MP) has been reported in 10-40% of community-acquired pneumonia cases. We aimed to evaluate the difference of clinical features in children with MP, according to their age and chest radiographic patterns. METHODS: The diagnosis of MP was made by examinations at both admission and discharge and by two serologic tests: the indirect microparticle agglutinin assay (?1:40)
You-Sook Youn; Kyung-Yil Lee; Ja-Young Hwang; Jung-Woo Rhim; Jin-Han Kang; Joon-Sung Lee; Ji-Chang Kim
Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders.
Childhood neurotransmitter disorders are increasingly recognised as an expanding group of inherited neurometabolic syndromes. They are caused by disturbance in synthesis, metabolism, and homeostasis of the monoamine neurotransmitters, including the catecholamines (dopamine, norepinephrine, and epinephrine) and serotonin. Disturbances in monoamine neurotransmission will lead to neurological symptoms that often overlap with clinical features of other childhood neurological disorders (such as hypoxic ischaemic encephalopathy, cerebral palsy, other movement disorders, and paroxysmal conditions); consequently, neurotransmitter disorders are frequently misdiagnosed. The diagnosis of neurotransmitter disorders is made through detailed clinical assessment, analysis of cerebrospinal fluid neurotransmitters, and further supportive diagnostic investigations. Early and accurate diagnosis of neurotransmitter disorders is important, as many are amenable to therapeutic intervention. The principles of treatment for monoamine neurotransmitter disorders are mainly directly derived from understanding these metabolic pathways. In disorders characterized by enzyme deficiency, we aim to increase monoamine substrate availability, boost enzyme co-factor levels, reduce monoamine breakdown, and replace depleted levels of monoamines with pharmacological analogs as clinically indicated. Most monoamine neurotransmitter disorders lead to reduced levels of central dopamine and/or serotonin. Complete amelioration of motor symptoms is achievable in some disorders, such as Segawa's syndrome, and, in other conditions, significant improvement in quality of life can be attained with pharmacotherapy. In this review, we provide an overview of the clinical features and current treatment strategies for childhood monoamine neurotransmitter disorders. PMID:25011953
Ng, J; Heales, S J R; Kurian, M A
Clinical features of avian vacuolar myelinopathy in American coots
Objectivea??To characterize clinical features of avian vacuolar myelinopathy (AVM) in American coots. Designa??Case-control study. Animalsa??26 AVM-affected American coots and 12 unaffected coots. Proceduresa??Complete physical, neurologic, hematologic, and plasma biochemical evaluations were performed. Affected coots received supportive care. All coots died or were euthanatized, and AVM status was confirmed via histopathologic findings. Resultsa??3 severely affected coots were euthanatized immediately after examination. Seventeen affected coots were found dead within 7 days of admission, but 5 affected coots survived > 21 days and had signs of clinical recovery. Abnormal physical examination findings appeared to be related to general debilitation. Ataxia (88%), decreased withdrawal reflexes (88%), proprioceptive deficits (81%), decreased vent responses (69%), beak or tongue weakness (42%), and head tremors (31%), as well as absent pupillary light responses (46%), anisocoria (15%), apparent blindness (4%), nystagmus (4%), and strabismus (4%) were detected. Few gross abnormalities were detected at necropsy, but histologically, all AVM-affected coots had severe vacuolation of white matter of the brain. None of the control coots had vacuolation. Conclusions and Clinical Relevancea??Although there was considerable variability in form and severity of clinical neurologic abnormalities, clinical signs common in AVM-affected birds were identified. Clinical recovery of some AVM-affected coots can occur when supportive care is administered. Until the etiology is identified, caution should be exercised when rehabilitating and releasing coots thought to be affected by AVM.
Larsen, R. S.; Nutter, F. B.; Augspurger, T.; Rocke, T. E.; Tomlinson, L.; Thomas, N. J.; Stoskopf, M.K.
Clinical Features and Course of Ocular Toxocariasis in Adults
Purpose To investigate the clinical features, clinical course of granuloma, serologic findings, treatment outcome, and probable infection sources in adult patients with ocular toxocariasis (OT). Methods In this retrospective cohort study, we examined 101 adult patients diagnosed clinically and serologically with OT. Serial fundus photographs and spectral domain optical coherence tomography images of all the patients were reviewed. A clinic-based case-control study on pet ownership, occupation, and raw meat ingestion history was performed to investigate the possible infection sources. Results Among the patients diagnosed clinically and serologically with OT, 69.6% showed elevated immunoglobulin E (IgE) levels. Granuloma in OT involved all retinal layers and several vitreoretinal comorbidities were noted depending on the location of granuloma: posterior pole granuloma was associated with epiretinal membrane and retinal nerve fiber layer defects, whereas peripheral granuloma was associated with vitreous opacity. Intraocular migration of granuloma was observed in 15 of 93 patients (16.1%). Treatment with albendazole (400 mg twice a day for 2 weeks) and corticosteroids (oral prednisolone; 0.5�1 mg/kg/day) resulted in comparable outcomes to patients on corticosteroid monotherapy; however, the 6-month recurrence rate in patients treated with combined therapy (17.4%) was significantly lower than that in patients treated with corticosteroid monotherapy (54.5%, P?=?0.045). Ingestion of raw cow liver (80.8%) or meat (71.2%) was significantly more common in OT patients than healthy controls. Conclusions Our study discusses the diagnosis, treatment, and prevention strategies for OT. Evaluation of total IgE, in addition to anti-toxocara antibody, can assist in the serologic diagnosis of OT. Combined albendazole and corticosteroid therapy may reduce intraocular inflammation and recurrence. Migrating feature of granuloma is clinically important and may further suggest the diagnosis of OT. Clinicians need to carefully examine comorbid conditions for OT. OT may be associated with ingestion of uncooked meat, especially raw cow liver, in adult patients.
Ahn, Seong Joon; Woo, Se Joon; Jin, Yan; Chang, Yoon-Seok; Kim, Tae Wan; Ahn, Jeeyun; Heo, Jang Won; Yu, Hyeong Gon; Chung, Hum; Park, Kyu Hyung; Hong, Sung Tae
Clinical and pathological features of patients with nemaline myopathy.
Nemaline myopathy (NM) is a rare congenital myopathy of great heterogeneity, characterized by the presence of rods in the cytoplasm of muscle fibers. This study aimed to summarize and analyze retrospectively the clinicopathological features of 28�patients with NM. Among the 28 patients, 15�were classified as of the typical congenital type, manifested as lower- or four-limb weakness as the first symptom and slowly progressive course. Six patients were classified as of childhood onset type, with lower-limb weakness and progressive course. Seven patients were classified as of the adult onset type, with rapidly progressive course and obvious muscle atrophy. Patient's 1, 16 and 23 had rapid clinical progression. On follow up, the three patients showed respiratory failure. Limb weakness in all patients was proximal?dominant. Hypotonia was observed in most patients. High arched feet were also observed as dysmorfic features. In all patients, the creatine kinase�(CK) level was normal or mildly elevated, and electromyography revealed myogenic changes. Nemaline bodies were observed under a light microscope in more than half of the patients' muscle fibers, and especially in type�I fibers. All patients showed fiber type�I predominance and atrophy. Modified G�m�ri trichrome staining showed characteristic purple?colored rods. Muscle electron microscopy revealed the presence of high electron?dense nemaline bodies around the nucleus, and of a disorganized myofibrillar apparatus, with broken myofilaments and irregular myofibrils and Z�lines. The 28�patients with NM shared a number of clinical features, such as proximal limb weakness, reduced deep tendon reflex and dysmorfic features. Differences were also observed between the three types of patients, with regards to course progression, disease severity and respiratory failure. In conclusion, patients with NM showed great clinical heterogeneity. The diagnosis of NM was mainly based on the muscle biopsy. PMID:24788569
Yin, Xi; Pu, Chuan Qiang; Wang, Qian; Liu, Jie Xiao; Mao, Yan Ling
Clinical features, diagnosis, and prognosis in rheumatoid arthritis.
The past year has witnessed a modest expansion in our understanding of the clinical, diagnostic, and prognostic features of rheumatoid arthritis. Almost every continent has reported prevalence, phenotype, and clinical features of rheumatoid arthritis subpopulations. Reviews of the natural history and therapy of cervical spine disease, Felty's disease, and lung involvement dominate the clinical literature. Rheumatoid arthritis-like syndromes have been reported to occur after immunotherapy with interferon alfa and interleukin-2. There have been case studies on human immunodeficiency virus, cachexia, pregnancy, "pseudosepsis," bone loss, and malignancy in rheumatoid arthritis. Diagnostic criteria and new classifications for functional and global impairment have been published, and new health impairment questionnaires have been evaluated. Novel isotopes and the role of magnetic resonance imaging in damaged joints were discussed. Rheumatoid factor was reaffirmed as a significant prognostic variable, and the roles of immunogenetic loci, sulfur oxidation, and serum matrix proteins were evaluated in early rheumatoid arthritis. Functional status was again verified as a strong prognostic marker. PMID:8452769
Morgan, G J; Chow, W S
Conjunctival nevi: clinical and histopathologic features in a Saudi population
BACKGROUND AND OBJECTIVE: Conjunctival nevi are benign lesions with wide variation in clinical and histopathological features. The differentiation between benign nevi and other pigmented lesions is essential. The aim of our study was to identify the distribution of the histopathologic types of conjunctival nevi among the Saudi population and to provide the basic knowledge needed for proper clinical diagnosis. PATIENTS AND METHODS: This retrospective study of surgically excised benign conjunctival nevi was conducted at a tertiary care eye hospital from 1995 to 2006. Clinical data was collected from medical records and the histopathologic features reviewed by a single pathologist. RESULTS: A total 105 conjunctival nevi were included from 104 consecutive patients (mean age, 26 years, 54 males and 50 females). The anatomical location was the bulbar conjunctiva in 83%, juxtalimbal in 12%, caruncle in 4% and palpebral in 1%. The lesion was removed for cosmetic reasons in 38% while 8% of the lesions were removed to rule out malignancy. The compound nevus was the commonest (72%) in all age groups, followed by subepithelial nevus (24%) and finally junctional nevus (3%). CONCLUSIONS: The distribution of the histopathologic types of this tumor in our population matches the pattern in other areas of the world with the compound nevus being the commonest lesion. However, fewer lesions among our patients are removed to rule out malignancy.
Alkatan, Hind M.; Al-Arfaj, Khalid M.; Maktabi, Azza
Recurrent herpes simplex virus ocular infection: epidemiological and clinical features.
The epidemiological and clinical features of recurrent herpes simplex virus ocular infection (RHSV) were studied. Of 108 patients with primary herpes simplex virus ocular infection (PHSV) who were followed up for two to 15 years 35 (32%) suffered one or more recurrent attacks. The recurrence rate was significantly higher in patients under 20 years of age, but there was no significant difference between recurrence rates in males and females. Of 35 patients with RHSV 17 (49%) had one recurrent attack, 14 (40%) had between two and five, and four (11%) had between six and 15 attacks. The mean time interval between PHSV and the first four RHSV attacks was 10 months, and was shorter in subsequent attacks. The duration and severity of RHSV were reduced in successive recurrences. Patients with more severe conjunctivitis and lid lesions during PHSV ocular infection had a higher incidence of recurrent infection. The severity of the corneal signs in PHSV had no influence on the incidence of recurrent infection. Several clinical forms of RHSV were observed. Conjunctivitis associated with lid lesions was observed in 29 (83%) patients. In six (17%) patients the disease presented as an acute follicular conjunctivitis without characteristic lid or corneal lesions. Dendritic ulcer was found in three (9%) patients, and in one of them it was associated with a disciform keratitis. A chronic blepharoconjunctivitis developed in eight (23%) patients. The epidemiological and clinical features of RHSV were compared with those of PHSV. PMID:3663560
Wishart, M S; Darougar, S; Viswalingam, N D
[Role of Anopheles melas Theobald (1903) on malaria transmission in a mangrove swamp in Saloum (Senegal)].
From June 1995 to January 1998, entomological studies carried out in five villages located in the Delta's Saloum have allowed to better understand the contribution of An. melas Theobald (1903) to malaria transmission in mangrove swamp. Among the five villages studied, three of them (Simal, Djilor and Marlothie) located along the Saloum river, are colonised by An. arabiensis; the two others (Djifere and Diakhanor) located between the sea and the river, are colonised by An. melas. During the rainy season and at the beginning of the dry season, An. melas and An. arabiensis are sympatric. The ratio of An. melas/An. arabiensis increases when we go closer the coast where An. melas becomes quite exclusive. When An. melas is predominant, endophagy, endophily and anthropophily are very marked. The parturity rates are lower in An. melas than in An. arabiensis. In the predominance area of each species, transmission is on the same level. During the period of sympatry, An. arabiensis is responsible for the transmission and when it is absent, An. melas carries on. Transmission occurs from July to March with a maximum at the beginning of the dry season. In the villages of the mangrove swamp, its prolongation until the middle of the dry season is due to An. melas. PMID:12375367
Diop, A; Molez, J F; Konat�, L; Fontenille, D; Gaye, O; Diouf, M; Diagne, M; Faye, O
Visceral leishmaniasis: Clinical and demographic features in an African population
Objective: To describe the clinical and demographic features of patients with visceral leishmaniasis (VL), from Sudan, Africa. Methodology: A descriptive study was conducted during 5 years period on confirmed VL patients. These patients are, originally, from White Nile Province (WNP) region, a previously non-endemic VL focus which is located in southern part of Sudan. They were referred during the period 2006-2010 for management at Tropical Diseases Hospital (TDH) in the capital Khartoum. The patients data were retrieved from the hospital electronic software system, and were studied. Results: A total of 71 patients with VL were reviewed. The main clinical features were: fever 68 (95.8%), splenomegaly 66 (93%), weight loss 61 (85.9%), pallor 59 (83.1%), hepatomegaly 52 (73.2%). The most notable haematology finding was the mean Hb value (7.6 g/dL) on admission to hospital. Gender showed males at higher risk for VL as compared to females with a ratio of 3:1 (53 vs 18). VL was largely a disease of children with 42 (59.1%) aged < 15 year, and around quarter (23.9%) under 5 years. Conclusion: The clinical features of Sudanese VL in WNP region is, generally, similar to the pattern seen globally in endemic foci. The majority of the study population are paediatric indigenous VL patients, suggesting that adults were immune, and indicating change of disease pattern from previous sporadic to present endemic. This finding emphasizes the need for research to better understand VL in non-endemic areas with the objective of developing effective and sustainable control strategies.
M. Nail, Abdelsalam; M. Imam, Abdelmageed
Clinical and pathological features of primary renal angiosarcoma
Introduction: We review all cases of renal angiosarcoma described in the medical literature to describe its clinical and histological features. Methods: The search term was �angiosarcoma of the kidney.� All articles or case reports in English, French, German or Spanish published until March 15, 2013 were considered. When available, data that focused on clinical and pathological features were extracted. Results: In total, the final cohort included 42 cases. The median overall survival (OS) was 5.0 months (95% confidence interval [CI], 2.1�7.9). Patients with metastatic disease had more than a threefold increase in the risk of death compared to patients without meta-static disease (hazard ratio: 3.27, 95% CI, 1.48�7.24; p = 0.004). Non-metastatic patients had dismal disease-free survival (DFS) rates, with a median DFS of 6.0 months (95% CI, 4.3�7.7); despite this, chemotherapy was effective to increase survival in eligible patients (4.0 vs. 1.0 months; p = 0.001). Microscopic examination found epithelioid and spindled cell in 44% and 56% of cases, respectively; there was a statistically insignificant increase in survival in patients with epithelioid patterns compared to spindled ones (9.0 vs. 4.0 months; p = 0.077). The tumour grading was related to OS; the lower the grade, the longer the survival (13 vs. 4 months; p = 0.029). Conclusions: Renal angiosarcoma is a rare disease with defined clinical and pathological features. It has a very poor prognosis in patients with metastatic disease and a high recurrence rate in patients with non-metastatic disease.
Iacovelli, Roberto; Orlando, Valentina; Palazzo, Antonella; Cortesi, Enrico
Manganese neurotoxicity: a review of clinical features, imaging and pathology.
Manganese intoxication can result in a syndrome of parkinsonism and dystonia. If these extrapyramidal findings are present, they are likely to be irreversible and even progress after termination of the exposure to manganese. Clinical features are usually sufficient to distinguish these patients from those with Parkinson's disease. The neurological syndrome does not respond to levodopa. Imaging of the brain may reveal MRI signal changes in the globus pallidus, striatum, and midbrain. Positron emission tomography reveals normal presynaptic and postsynaptic nigrostriatal dopaminergic function. The primary site of neurological damage has been shown by pathological studies to be the globus pallidus. The mechanism of toxicity is not clear. PMID:10385886
Pal, P K; Samii, A; Calne, D B
Transmural colonic ischemia: clinical features and computed tomography findings.
Our purpose was to describe the computed tomography features of transmural colonic ischemia in correlation with clinical, laboratory and histopathological findings of 14 patients who underwent colectomy (9 female and 5 male; mean age, 68 years). Seven patients died (50%). Transmural necrosis involved the right colon in 10 patients (10/14, or 72%). Eleven patients showed thickened colonic wall (11/14, or 79%), 10 pneumatosis (10/14, or 71%), 5 gas in the portal venous system (5/14, or 36%), and 14 fat stranding (14/14, or 100%). PMID:22226441
Alturkistany, Samira; Artho, Giovanni; Maheshwari, Sharad; Blaichman, Jason; Kao, Ellen; Mesurolle, Beno�t
Tachycardia mediated cardiomyopathy: pathophysiology, mechanisms, clinical features and management.
Tachycardia mediated cardiomyopathy (TMC) is a reversible form of dilated cardiomyopathy that can occur with most supraventricular and ventricular arrhythmias. Despite the plethora of literature describing this entity in animal models, as well as humans, it remains poorly understood. Over the last decade, new etiologies of TMC, such as frequent premature ventricular complexes in normal hearts, have been identified. Recent advances in catheter-based ablation therapies, particularly for atrial fibrillation and ventricular arrhythmias, have added a new dimension to the treatment of this condition. This review describes the pathophysiology, proposed mechanisms, clinical features and management in various arrhythmic conditions. PMID:24447747
Gupta, Shuchita; Figueredo, Vincent M
Cutis marmorata telangiectatica congenita: clinical features in 35 cases
OBJECTIVE: To evaluate the distribution of skin lesions, clinical\\u000a features, and associated abnormalities in children with cutis marmorata\\u000a telangiectatica congenita at onset and during follow-up. DESIGN:\\u000a Retrospective survey of the available medical data with an average\\u000a follow-up of 1 year 5 months (range, 0-7 years). SETTING: Pediatric\\u000a Dermatology Unit (Department of Dermatovenereology) of the Sophia\\u000a Children's Hospital in Rotterdam, the
A. C. A. Devillers; Waard-van der Spek de F. B; A. P. Oranje
A case of epidermolysis bullosa acquisita with unusual clinical features.
A 30-year-old woman developed epidermolysis bullosa acquisita (EBA) with unusual clinical features. Initially, only prurigo-like nodules were seen, which lasted for > 2 years and then blisters appeared. Eruptions resembling the rash in systemic lupus erythematosus were also seen on the face. Histopathological examination of a biopsy specimen revealed subepidermal blisters containing eosinophils and neutrophils. Direct immunofluorescence examination, indirect immunofluorescence examination using skin split with 1 mol/L sodium chloride, and immunoblotting analysis using extracts of normal human dermis gave results compatible with EBA. This case shows that EBA can present with nodular lesions as seen in pemphigoid nodularis or epidermolysis bullosa pruriginosa. PMID:19817767
Furukita, K; Ansai, S; Hida, Y; Kubo, Y; Arase, S; Hashimoto, T
Tuberculosis Presenting as Dysphagia: Clinical, Endoscopic, Radiological and Endosonographic Features
Objective: Dysphagia as a presenting manifestation of tuberculosis is rare and there is paucity of data on the clinical, endoscopic and endosonographic features of these patients. We present our data related to the features over last four years. Methods: We analyzed retrospectively the clinical, endoscopic, radiological, endosonographic and cytological findings in 14 patients (male: 10; mean age: 37.7 � 10.4 years) with dysphagia due to tuberculosis presenting to us over last 4 years. Results: Nine patients (64.3%) had Grade 1 dysphagia, 4 (28.6%) patients had Grade 2 and 1 patient (7.1%) had Grade 3. Mid esophagus was the commonest site of involvement. Endoscopic findings were extrinsic bulge (50%), linear ulcers (28.6%) and pol-ypoidal ulcerated lesion (7.1%). Endoscopic biopsies were inconclusive. Endoscopic ultrasound (EUS) demonstrated mediastinal lymph nodes being responsible for endoscopic bulge and their infiltration into esophageal wall leading on to ulcers. EUS-guided fine needle aspiration from these nodes established diagnosis in all patients. Conclusion: Dysphagia in tuberculosis is most commonly caused by compression by the surrounding mediastinal lymph nodes. EUS is a useful investigation for assessment of these patients.
Rana, Surinder Singh; Bhasin, Deepak Kumar; Rao, Chalapathi; Srinivasan, Radhika; Singh, Kartar
Historical, clinical and laboratory features of 126 hyperthyroid cats.
The historical and clinical features and the haematological and biochemical changes in 126 cats with hyperthyroidism are described; 125 of the cats were domestic short- or longhaired, and one was a chinchilla. There were 62 males and 64 females with a mean age of 13.0 years. The duration of signs ranged from two days to two years with a mean of 5.4 months. The historical and clinical features were weight loss, polyphagia, polyuria/polydipsia, tachycardia, hyperactivity, diarrhoea, respiratory abnormalities, other cardiac abnormalities, skin lesions, vomiting, moderately raised temperature, decreased activity, decreased appetite, congestive cardiac failure, haematuria and intermittently decreased appetite. Goitre was palpable in 123 cats. The serum total thyroxine concentrations of the cats were more than three standard deviations above the mean of the reference range. Serum total tri-iodothyronine concentrations ranged from 0.78 to 14.96 nmol/litre and were within the reference range in 11 of the cats. Mild hyperthyroidism was a much commoner cause of high normal or marginally above normal thyroid hormone concentrations than severe, concurrent, non-thyroidal illness. Other common biochemical changes were increased of serum alanine aminotransferase, urea, aspartate aminotransferase, alkaline phosphatase and lactate dehydrogenase. There were minimal changes in the red cell parameters. Leucocyte changes showed two trends: a mature neutrophilia, either with or without an accompanying leucocytosis often in association with a lymphopenia, or an eosinophilia, either with or without a lymphocytosis. PMID:1413411
Thoday, K L; Mooney, C T
Clinical, biochemical, and immunohistochemical features of necrobiotic xanthogranulomatosis
Aims: To describe the clinical features of two patients with paraproteinaemia and necrobiotic xanthogranulomatosis together with detailed immunohistochemistry of the lesions in one. Methods: The clinical history and results of biochemical investigations of the patients were retrieved from the files. Immunohistochemistry was used to investigate the expression of macrophage and mast cell markers, amyloid A and P, S-100 protein, and apolipoprotein AI and B in xanthogranulomatous skin lesions from patient 2. In addition, protein A�sepharose chromatography was used to separate serum from patient 2 and apolipoprotein B and the IgG paraprotein were measured in the fractions eluted. Results: Monocytes/macrophages comprised the major cellular component of the lesion, and unusually for xanthomata, areas of collagen necrosis were also seen. Activated mast cells were present at the margins of macrophage clusters and adjacent to areas of collagen necrosis. Serum paraprotein was bound to low density lipoproteins as judged by protein A�sepharose chromatography, and was also located within macrophagic foam cells of the lesion on immunohistochemistry. Conclusions: These observations demonstrate many features similar to atherosclerosis including collagen necrosis and mast cell activation.
Jeziorska, M; Hassan, A; Mackness, M I; Woolley, D E; Tullo, A B; Lucas, G S; Durrington, P N
The clinical features of the piriformis syndrome: a systematic review
Piriformis syndrome, sciatica caused by compression of the sciatic nerve by the piriformis muscle, has been described for over 70�years; yet, it remains controversial. The literature consists mainly of case series and narrative reviews. The objectives of the study were: first, to make the best use of existing evidence to estimate the frequencies of clinical features in patients reported to have PS; second, to identify future research questions. A systematic review was conducted of any study type that reported extractable data relevant to diagnosis. The search included all studies up to 1 March 2008 in four databases: AMED, CINAHL, Embase and Medline. Screening, data extraction and analysis were all performed independently by two reviewers. A total of 55 studies were included: 51 individual and 3 aggregated data studies, and 1 combined study. The most common features found were: buttock pain, external tenderness over the greater sciatic notch, aggravation of the pain through sitting and augmentation of the pain with manoeuvres that increase piriformis muscle tension. Future research could start with comparing the frequencies of these features in sciatica patients with and without disc herniation or spinal stenosis.
Song, Fujian; Riera, Ricardo; Sambandan, Sidha
The clinical features of the piriformis syndrome: a systematic review.
Piriformis syndrome, sciatica caused by compression of the sciatic nerve by the piriformis muscle, has been described for over 70 years; yet, it remains controversial. The literature consists mainly of case series and narrative reviews. The objectives of the study were: first, to make the best use of existing evidence to estimate the frequencies of clinical features in patients reported to have PS; second, to identify future research questions. A systematic review was conducted of any study type that reported extractable data relevant to diagnosis. The search included all studies up to 1 March 2008 in four databases: AMED, CINAHL, Embase and Medline. Screening, data extraction and analysis were all performed independently by two reviewers. A total of 55 studies were included: 51 individual and 3 aggregated data studies, and 1 combined study. The most common features found were: buttock pain, external tenderness over the greater sciatic notch, aggravation of the pain through sitting and augmentation of the pain with manoeuvres that increase piriformis muscle tension. Future research could start with comparing the frequencies of these features in sciatica patients with and without disc herniation or spinal stenosis. PMID:20596735
Hopayian, Kevork; Song, Fujian; Riera, Ricardo; Sambandan, Sidha
Clinical and imaging features of focal nodular hyperplasia in children.
OBJECTIVE. The purpose of this article is to review the clinical and imaging features of focal nodular hyperplasia (FNH) developed in children. MATERIALS AND METHODS. At a single institution, pediatric patients who underwent imaging studies and who had pathologically proven FNH were studied. Clinical characteristics, including presenting symptoms and signs and the presence of underlying disease, were reviewed from the medical records. Imaging features of FNHs, including the number, size, ultrasound echogenicity and vascularity, CT attenuation, MRI signal intensity and enhancement pattern, and the presence of a central scar, were evaluated. RESULTS. Twenty-five patients (11 boys and 14 girls; median age, 8.6 years) were found to have a solitary (n = 23) or multiple (n = 2) FNH lesions with a mean size of 4.9 cm (range, 1-10 cm). Multiple lesions were associated with small size of the lesions and history of malignancy treated by chemotherapy. Most patients were asymptomatic (n = 22). Biliary atresia was the most common underlying disease (n = 5). On ultrasound, FNHs most commonly appeared to be isoechoic and hypervascular. On dynamic CT and MRI, strong enhancement on the arterial phase and becoming isoattenuated or of isointense signal intensity on the portal or delayed phase was common. A central scar was usually noted in large lesions in about half the cases. CONCLUSION. Pediatric FNH is uncommon and usually is found incidentally in otherwise healthy children. However, it may occur in children who have underlying diseases, including biliary atresia. In addition, it can be encountered during surveillance of childhood cancer survivors with less common imaging features, including lack of a central scar and multiplicity. PMID:24758647
Cha, Dong Ik; Yoo, So-Young; Kim, Ji Hye; Jeon, Tae Yeon; Eo, Hong
Novel clinical features of recurrent human respiratory syncytial virus infections.
Children and elderly individuals are often infected easily and repeatedly with human respiratory syncytial virus (HRSV); however, the features of recurrent infection in the same individual are defined poorly. To clarify the clinical significance of repeated HRSV infections in relation to subgroup epidemiology, this study performed prospective and longitudinal analyses in children with lower respiratory tract infections over 20 consecutive epidemics between 1985 and 2005 at a pediatric outpatient clinic in Kawasaki, Japan. HRSV infections were confirmed by 2 types of reverse-transcription PCR. Samples obtained from patients with repeated infections were subjected to sequence analysis and cloning analysis. A total of 1,312 lower respiratory tract infections observed in 1,010 patients were diagnosed as HRSV infections. Repeated HRSV infections occurred in 208 of the 1,010 patients. Analysis of the patients with repeated infections revealed that children were often infected multiple times even within a single short epidemic. Some patients were re-infected with strains having the same or virtually identical N gene sequences. In patients infected more than 4 times, cloning analysis revealed more frequent dual infections with both subgroups (23.8%). The HRSV-A subgroup caused subsequent homologous infections more frequently than did HRSV-B; furthermore, HRSV-A infections provided no protection from a second homologous infection. In contrast, HRSV-B infections offered significant protection against a second homologous infection. Statistical analysis revealed alleviation of symptoms with a reduced rate of dyspnoeic attacks only in the group re-infected with homologous HRSV-A strains. Thus, this study elucidates new clinical features of recurrent HRSV infection. J. Med. Virol 86: 1629-1638, 2014. � 2013 The Authors Journal of Medical Virology Published by Wiley Periodicals, Inc. PMID:24166209
Yui, Ikuko; Fujino, Motoko; Sawada, Akihito; Nakayama, Tetsuo
Clinical features and associated syndromes of mal de debarquement
Objective To investigate the clinical features and natural history of mal de debarquement (MdD). Design Retrospective case review with follow-up questionnaire and telephone interviews. Setting University Neurotology Clinic. Patients Patients seen between 1980 and 2006 who developed a persistent sensation of rocking or swaying for at least 3 days after exposure to passive motion. Main outcome measure Clinical features, diagnostic testing, and questionnaire responses. Results Of 64 patients (75 % women) identified with MdD, 34 completed follow-up questionnaires and interviews in 2006. Most patients had normal neurological exams, ENGs and brain MRIs. The average age of the first MdD episode was 39 � 13 years. A total of 206 episodes were experienced by 64 patients. Of these, 104 episodes (51 %) lasted > 1 month; 18 %, > 1 year; 15 %, > 2 years; 12 %, > 4 years, and 11 %, > 5 years. Eighteen patients (28 %) subsequently developed spontaneous episodes of MdD-like symptoms after the initial MdD episode. There was a much higher rate of migraine in patients who went on to develop spontaneous episodes (73 %) than in those who did not (22 %). Subsequent episodes were longer than earlier ones in most patients who had multiple episodes. Re-exposure to passive motion temporarily decreased symptoms in most patients (66 %). Subjective intolerance to visual motion increased (10 % to 66 %) but self-motion sensitivity did not (37 % to 50 %) with onset of MdD. Conclusion The majority of MdD episodes lasting longer than 3 days resolve in less than one year but the probability of resolution declines each year. Many patients experience multiple MdD episodes. Some patients develop spontaneous episodes after the initial motion-triggered episode with migraine being a risk factor.
Brodsky, Jae; Ishiyama, Gail; Sabatti, Chiara; Baloh, Robert W.
[Clinical characteristics of penetrating ocular injuries with intraocular foreign body. Part I. Pathogenesis and clinical features].
Intraocular foreign bodies (IOFBs), are the major cause of penetrating ocular trauma and the most serious problem is the resulting impairment of visual function. In this paper, based on published reports and their clinical experience, authors discuss questions of pathogenesis, epidemiology and clinical features of IOFB injuries. Special attention was paid on primary and secondary complications, which include mechanical lesions of the ocular tissues, metallosis and endophthalmitis. PMID:20572510
Obuchowska, Iwona; Napora, Katarzyna J; Sidorowicz, Aneta; Mariak, Zofia
The Early Clinical Features of Dengue in Adults: Challenges for Early Clinical Diagnosis
BackgroundThe emergence of dengue throughout the tropical world is affecting an increasing proportion of adult cases. The clinical features of dengue in different age groups have not been well examined, especially in the context of early clinical diagnosis.Methodology\\/Principal FindingsWe structured a prospective study of adults (?18 years of age) presenting with acute febrile illness within 72 hours from illness onset
Jenny G. H. Low; Adrian Ong; Li Kiang Tan; Shera Chaterji; Angelia Chow; Wen Yan Lim; Koon Wui Lee; Robert Chua; Choon Rong Chua; Sharon W. S. Tan; Yin Bun Cheung; Martin L. Hibberd; Subhash G. Vasudevan; Lee-Ching Ng; Yee Sin Leo; Eng Eong Ooi
Genetic Epidemiology, Hematological and Clinical Features of Hemoglobinopathies in Iran
There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the ?-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah (western Iran) provinces, respectively. Also, ?-chain variants of Hb Q-Iran and Hb Setif are prevalent in western Iran. The molecular basis and clinical severity of thalassemias are extremely heterogenous among Iranians due to the presence of multiethnic groups in the country. ?-Thalassemia is more prevalent in northern and southern Iran. Among 52 different ?-thalassemia mutations that have been identified among Iranian populations, IVSII-1 G:A is the most frequent mutation in most parts of the country. The presence of IVS I-5 G:C mutation with high frequency in southeastern Iran might reflect gene flow from neighboring countries. A wide spectrum of ?-thalassemia alleles has been detected among Iranians with ??3.7?kb as the most prevalent ?-thalassemia mutation. The prevention program of thalassemia birth in Iran has reduced the birth rate of homozygous ?-thalassemia since the implementation of the program in 1997. In this review genetic epidemiology, clinical and hematological aspects of hemoglobinopathies, and the prevention programs of ?-thalassemia in Iran will be discussed.
Rahimi, Zohreh
The clinical features of the overlap between COPD and asthma
Background The coexistence of COPD and asthma is widely recognized but has not been well described. This study characterizes clinical features, spirometry, and chest CT scans of smoking subjects with both COPD and asthma. Methods We performed a cross-sectional study comparing subjects with COPD and asthma to subjects with COPD alone in the COPDGene Study. Results 119 (13%) of 915 subjects with COPD reported a history of physician-diagnosed asthma. These subjects were younger (61.3 vs 64.7 years old, p = 0.0001) with lower lifetime smoking intensity (43.7 vs 55.1 pack years, p = 0.0001). More African-Americans reported a history of asthma (33.6% vs 15.6%, p < 0.0001). Subjects with COPD and asthma demonstrated worse disease-related quality of life, were more likely to have had a severe COPD exacerbation in the past year, and were more likely to experience frequent exacerbations (OR 3.55 [2.19, 5.75], p < 0.0001). Subjects with COPD and asthma demonstrated greater gas-trapping on chest CT. There were no differences in spirometry or CT measurements of emphysema or airway wall thickness. Conclusion Subjects with COPD and asthma represent a relevant clinical population, with worse health-related quality of life. They experience more frequent and severe respiratory exacerbations despite younger age and reduced lifetime smoking history. Trial registration ClinicalTrials.gov: NCT00608764
Clinical features and etiology of retinal vasculitis in Northern Thailand
Purpose: To report on the clinical features and etiology of patients with retinal vasculitis (RV). Materials and Methods: We reviewed medical records of 47 patients (75 affected eyes) diagnosed with RV. Clinical presentations, ocular complications, associated systemic diseases, and treatment regimens were registered. Results: Etiology of RV included infectious causes in 10/47, (21%) while an association with systemic and/or ocular non-infectious disorders was noted in 22/47 (47%). Eales� disease and Behcet's disease represented the most common clinical entities in non-infectious group while tuberculosis-associated RV was diagnosed in 6/10 (60%) among those with infectious disorders. RV was bilateral in 28/47 (60%) patients. Retinal veins were most commonly affected (72%, 34/47). Involvement of arteries was present in 12/47 (25%) and was associated with viral infections and Behcet's disease. Ocular complications developed in 60/75 (80%) eyes. The most common complications were elevated intraocular pressure and/or glaucoma (33/75, 44%). Retinal detachment, vitreous hemorrhage, and cystoid macular edema developed in similar percentages (15%). Conclusions: RV in Thailand manifested mostly in male patients, was typically bilateral and involved mostly veins. Involvement of arteries was observed in patients with viral infections and Behcet's disease. Tuberculosis was the most common infectious cause.
Apinyawasisuk, Supanut; Rothova, Aniki; Kunavisarut, Paradee; Pathanapitoon, Kessara
Pathophysiologic evaluation of MELAS strokes by serially quantified MRS and CASL perfusion images
Purpose: To clarify the roles of serial MR spectroscopy (MRS) and continuous arterial spin labeling (CASL) perfusion images for evaluating cerebral lesions in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Materials and methods: Two cases of MELAS followed up serially using MRS and CASL images in addition to routine MR imaging were enrolled. Results: Newly appeared
Tetsuya Tsujikawa; Makoto Yoneda; Yukio Shimizu; Hidemasa Uematsu; Mariko Toyooka; Masamichi Ikawa; Takashi Kudo; Hidehiko Okazawa; Masaru Kuriyama; Hirohiko Kimura
Kleptomania: clinical features and comorbidity in an Italian sample.
Kleptomania, listed in DSM-IV as an impulse control disorder not elsewhere classified, is a psychiatric condition still poorly understood and subject of only a few systematic studies. The aim of this research was, therefore, to evaluate the clinical features and comorbidity of Italian patients with a DSM-IV diagnosis of kleptomania. Twenty outpatients with a lifetime diagnosis of kleptomania by DSM-IV criteria, were included in the study and underwent a specially designed semistructured interview and the Family History Research Diagnostic Criteria. The majority of patients reported an early and abrupt onset and an episodic course of the disorder, with no gender preponderance. Lifetime comorbidity for other axis I disorders was high, in particular for mood, anxiety, and impulse control disorders. Family history also showed a high prevalence of psychiatric disorders. Our study indicates clear connections between kleptomania and different psychiatric disorders, the exact nature of which has yet to be clarified. PMID:11788913
Presta, Silvio; Marazziti, Donatella; Dell'Osso, Liliana; Pfanner, Chiara; Pallanti, Stefano; Cassano, Giovanni B
Aeromonas spp. and Traveler's Diarrhea: Clinical Features and Antimicrobial Resistance
Traveler�s diarrhea is the most common health problem of international travelers. We determined the prevalence of Aeromonas spp. associated with traveler�s diarrhea and analyzed the geographic distribution, clinical features, and antimicrobial susceptibility. Aeromonas spp. were isolated as a cause of traveler�s diarrhea in 18 (2%) of 863 patients. A. veronii biotype sobria was isolated in nine patients, A. caviae in seven patients, and A. jandai and A. hydrophila in one patient each. Aeromonas spp. were isolated with a similar prevalence in Africa, Latin America, and Asia. Watery and persistent diarrhea, fever, and abdominal cramps were common complaints. All strains were resistant to ampicillin; showed variable resistance to chloramphenicol, tetracycline, and cotrimoxazole; and were susceptible to cefotaxime, ciprofloxacin, and nalidixic acid. The persistence of symptoms made antimicrobial treatment necessary.
Ruiz, Joaquin; Gallardo, Francisco; Vargas, Martha; Soler, Lara; Figueras, Maria Jose; Gascon, Joaquin
Aeromonas spp. and traveler's diarrhea: clinical features and antimicrobial resistance.
Traveler's diarrhea is the most common health problem of international travelers. We determined the prevalence of Aeromonas spp. associated with traveler's diarrhea and analyzed the geographic distribution, clinical features, and antimicrobial susceptibility. Aeromonas spp. were isolated as a cause of traveler's diarrhea in 18 (2%) of 863 patients. A. veronii biotype sobria was isolated in nine patients, A. caviae in seven patients, and A. jandaei and A. hydrophila in one patient each. Aeromonas spp. were isolated with a similar prevalence in Africa, Latin America, and Asia. Watery and persistent diarrhea, fever, and abdominal cramps were common complaints. All strains were resistant to ampicillin; showed variable resistance to chloramphenicol, tetracycline, and cotrimoxazole; and were susceptible to cefotaxime, ciprofloxacin, and nalidixic acid. The persistence of symptoms made antimicrobial treatment necessary. PMID:12737738
Vila, Jordi; Ruiz, Joaquin; Gallardo, Francisco; Vargas, Martha; Soler, Lara; Figueras, Maria Jos�; Gascon, Joaquin
Hyperprolactinemia in children: clinical features and long-term results.
Hyperprolactinemia is a rare endocrine disorder in childhood, which may result from hypophyseal adenoma. We aimed to review the etiologic reasons and clinical features in hyperprolactinemia patients retrospectively. The mean age of 11 female patients at diagnosis was 14.2 � 1.3 years. Five patients had microadenoma, four patients had macroadenoma, and two patients were diagnosed with idiopathic hyperprolactinemia. The most frequent symptoms were menstrual disorders, headache, and galactorrhea, and one-third of the patients had obesity at diagnosis. There was no anterior pituitary hormone deficiency. All patients received bromocriptine as initial therapy; only two patients with macroadenoma and one patient with microadenoma were switched to cabergoline. Transsphenoidal surgery was performed for a patient with macroadenoma, who had cavernous sinus invasion and visual field defect. Medical treatment should be the first-line treatment option in both microadenoma and macroadenoma cases without any neurological signs. Surgery should be employed with limited indications. PMID:23329759
Catli, Gonul; Abaci, Ayhan; Altincik, Ayca; Demir, Korcan; Can, Sule; Buyukgebiz, Atilla; Bober, Ece
Human hantavirus infections: epidemiology, clinical features, pathogenesis and immunology.
In humans, hantaviruses can cause haemorrhagic fever with renal syndrome (HFRS) or hantavirus cardiopulmonary syndrome (HCPS). Currently it is estimated that 150,000 to 200,000 cases of hantavirus disease occur each year, the majority being reported in Asia. However, human hantavirus infections are increasingly reported in the Americas and Europe. Although many of the underlying pathogenic mechanisms still remain unclear, recent evidence rather argues against a purely immune-mediated pathophysiology of human disease. Despite the high morbidity and case-fatality rates of HFRS and HCPS, respectively, no vaccine or drug is currently proven to be preventive or therapeutic. This review summarises clinical features and current epidemiological findings, as well as concepts regarding the immunology, pathogenesis and intervention strategies of human hantaviral diseases. PMID:24652684
Manigold, Tobias; Vial, Pablo
Clinical Characteristics of Asthma Combined with COPD Feature
Purpose In clinical practice, some patients with asthma show incompletely reversible airflow obstruction, resembling chronic obstructive pulmonary disease (COPD). The aim of this study was to analyze this overlap phenotype of asthma with COPD feature. Materials and Methods A total of 256 patients, over the age of 40 years or more with a diagnosis of asthma, based on either 1) positive response to bronchodilator: >200 mL forced expiratory volume in 1 s (FEV1) and >12% baseline or 2) positive methacholine or mannitol provocation test, were enrolled. Among the asthma patients, we defined the overlap group with incompletely reversible airflow obstruction [postbronchodilator FEV1/forced vital capacity (FVC) <70] at the initial time of admission and continuing airflow obstruction after at least 3 months follow up. We evaluated clinical features, serum eosinophil counts, serum total immunoglobulin (Ig) E with allergy skin prick test, spirometry, methacholine or mannitol provocation challenges and bronchodilator responses, based on their retrospective medical record data. All of the tests mentioned above were performed within one week. Results The study population was divided into two groups: asthma only (62%, n=159, postbronchodilator FEV1/FVC ?70) and overlap group (38%, n=97, postbronchodilator FEV1/FVC <70). The overlap group was older, and contained more males and a higher percentage of current or ex-smokers than the asthma only group. Significantly lower FEV1 and higher total lung capacity, functional residual capacity, and residual volume were observed in the overlap group. Finally, significantly lower serum eosinophil count and higher IgE were seen in the overlap group. Conclusion Our results showed that the overlap phenotype was older, male asthmatic patients who have a higher lifetime smoking intensity, more atopy and generally worse lung function.
Lee, Hea Yon; Kang, Ji Young; Yoon, Hyoung Kyu; Lee, Sook Young; Kwon, Soon Suk; Kim, Young Kyoon
Pathologic and clinical features of pituitary adenomas showing TSH immunoreactivity.
Patients with thyrotropin-secreting pituitary adenomas may present with mass effect, hypopituitarism, and/or hyperthyroidism. The spectrum of pathologic and clinical features of patients whose tumors demonstrate ?-thyrotropin immunoreactivity (?-TSH IR) has not been characterized. To characterize the phenotype of patients with pituitary adenomas with positive ?-TSH IR, we conducted a retrospective analysis of patient records of all adult patients (n = 1,223) undergoing pituitary surgery in our institution over one decade (1999-2009). The search identified 166 adults with tumors which had ?-TSH IR. These patients were individually matched to 166 patients whose tumors revealed no ?-TSH IR. Clinical, pathological, imaging and biochemical data were extracted. 332 patients, aged 51.4 � 15.1 years [150 women (45 %) and 182 men (55 %)], with pituitary adenomas (mean tumor diameter � SD: 22.7 � 9.0 mm) were studied. The degree of ?-TSH IR was associated with the presence of central hyperthyroidism (p < 0.0001) or goiter (p = 0.0217). Patients whose tumors expressed more extensive ?-TSH IR were less likely to develop pituitary apoplexy than those without ?-TSH IR (p = 0.0428). In addition, the degree of ?-TSH IR correlated with the presence of immunoreactivity for ?-FSH (p < 0.0001), ?-LH (p < 0.0001), alpha subunit (p < 0.0001), and GH (p = 0.0036). Conclusions: Pituitary adenomas expressing ?-TSH IR were more likely to demonstrate immunoreactivity for ?-FSH, ?-LH, GH or alpha subunit. Patients with such tumors were more likely to exhibit hyperthyroidism and goiter, but less likely to develop pituitary apoplexy than patients without ?-TSH IR. These findings suggest that ?-TSH IR is associated with specific phenotypic features in patients with pituitary adenomas. PMID:22869255
Tritos, Nicholas A; Eppakayala, Samatha; Swearingen, Brooke; Hedley-Whyte, E Tessa; Miller, Karen K; Nachtigall, Lisa B; Grinspoon, Steven K; Biller, Beverly M K; Klibanski, Anne
Pancreatic neuroendocrine tumors: clinical features, diagnosis and medical treatment: advances
Pancreatic neuroendocrine tumors (pNETs) comprise with gastrointestinal carcinoids, the main groups of gastrointestinal neuroendocrine tumors (GI-NETs). Although these two groups of GI-NETs share many features including histological aspects; over-/ectopic expression of somatostatin receptors; the ability to ectopically secrete hormones/peptides/amines which can result in distinct functional syndromes; similar approaches used for tumor localization and some aspects of treatment, it is now generally agreed they should be considered separate. They differ in their pathogenesis, hormonal syndromes produced, many aspects of biological behavior and most important, in their response to certain anti-tumor treatment (chemotherapy, molecular targeted therapies). In this chapter the clinical features of the different types of pNETs will be considered as well as aspects of their diagnosis and medical treatment of the hormone-excess state. Emphasis will be on controversial areas or recent advances. The other aspects of the management of these tumors (surgery, treatment of advanced disease, tumor localization) are not dealt with here, because they are covered in other chapters in this volume.
Ito, Tetsuhide; Igarashi, Hisato; Jensen, Robert T.
Clinical and Histopathologic Features of Fluoroquinolone-Induced Liver Injury
Background & Aims Fluoroquinolone-induced liver injury is rare; no prospective studies of well-characterized case series have been published. We studied patients with fluoroquinolone-induced hepatoxicity, using data from the Drug-Induced Liver Injury Network (DILIN) to characterize injury patterns, outcomes, and associated features. Methods We identified subjects with fluoroquinolone hepatotoxicity who enrolled in the DILIN from September 2004 to January 2010. Demographic, clinical, and laboratory data were analyzed by descriptive statistical methods. Results Of the 679 registrants in the DILIN prospective study, 12 had hepatoxicity from fluoroquinolones (6 ciprofloxacin, 4 moxifloxacin, 1 levofloxacin, and 1 gatifloxacin). Seven were women; the median age was 57 years (range 23�80 years), and the median time from the start of fluoroquinolone therapy to symptoms was only 4 days (range 1�39 days). Nine cases developed symptoms on medication (2, 8, and 32 days after they stopped the medication, 3 patients each). Cases were equally distributed among hepatocellular injury (predominantly increased levels of alanine aminotransferase), cholestatic injury (predominantly increased levels of alkaline phosphatase [AP]), and both. Seven cases had immunoallergic features. Patients with mixed hepatocellular and cholestatic injury had mild disease without jaundice�all recovered. In contrast, 2 of 4 patients with hepatocellular injury and jaundice died, 1 of acute liver failure. One patient with cholestatic injury developed vanishing bile duct syndrome and required liver transplantation; another had a persistently increased serum level of AP. Conclusions Fluoroquinolone liver injury is rapid in onset and often has immunoallergic features, indicating a hypersensitivity reaction. The pattern of injury is can be hepatocellular, cholestatic, or mixed�mixed cases are the least severe. Acute and chronic liver failure can occur.
Orman, Eric S.; Conjeevaram, Hari S.; Vuppalanchi, Raj; Freston, James W.; Rochon, James; Kleiner, David E.; Hayashi, Paul H.
Mitochondrial dementia: A sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation
We report the case of a 23-year-old Italian female harboring the rare m.3291T>C mutation in the MT-TL1 gene, that encodes the mitochondrial transfer RNA for leucine 1 (UUA\\/G). MT-TL1 mutations usually cause the MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) syndrome. Our patient, however, suffered from a non-syndromic mitochondrial disorder (MID), clinically characterized by progressive cognitive and behavioral decline,
Ettore Salsano; Anna Rita Giovagnoli; Lucia Morandi; Carmelo Maccagnano; Eleonora Lamantea; Chiara Marchesi; Massimo Zeviani; Davide Pareyson
Optic nerve head drusen: histopathological considerations--clinical features.
The histopathological features made on 18 autopsies have proved that the optic nerve head drusen are calcified formations situated within the margins of the optic nerve head. It has been supposed that not only an aberrant axoplasmic transport, but also the presence of local factors, partly depending on the Bruch's membrane, can play a determining role in the pathogenesis of the optic disc drusen. A spongiotic edema gives us the histopathological equivalent of the clinical aspect of the optic disc with indistinct margins and lack of the central cup and furthermore gives us an explanation about the perimetric alterations pathogenesis. Clinical observations confirm that the optic nerve head drusen are prevalently asymptomatic and that visual acuity remains unchanged. The threshold tests are able to quantify exactly the entity and the depth of the visual field defects and its possible changing within a certain period of time. As regards the diagnosis, the retinal fluoroangiography is of great importance allowing to distinguish clearly a pseudo-papillary edema from a papillary edema. PMID:2079913
Giarelli, L; Ravalico, G; Saviano, S; Grandi, A
Clinical and molecular features of Joubert syndrome and related disorders
Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or function of the primary cilium. The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements. In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, polydactyly, cystic renal disease (including cystic dysplasia or juvenile nephronophthisis), and congenital hepatic fibrosis. The clinical course can be variable, but most children with this condition survive infancy to reach adulthood. At least 8 genes cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome. Several of the causative genes for JSRD are implicated in other ciliary disorders, such as juvenile nephronophthisis and Meckel syndrome, illustrating the close association between these conditions and their overlapping clinical features that reflect a shared etiology involving the primary cilium.
Parisi, Melissa A.
Clinical presentation and metabolic features of overt and occult urolithiasis.
Although pediatricians are frequently confronted with patients presenting urolithiasis symptoms without obvious stones, the syndrome of occult urolithiasis may be still viewed with some skepticism. We have compared the clinical and metabolic features of 197 children with obvious calculi, 189 with microcalculi (diameter ? 3 mm based on renal sonography), and 114 with symptoms of urolithiasis and normal renal sonography findings. Only microcalculi and normal sonography subjects with a urinary abnormality potentially leading to urolithiasis were included in the study. Age at presentation increased significantly (p?=?0.0001) in the groups in the order normal sonography to microcalculi to calculi groups. There was no significant difference among the three groups in terms of family history of urolithiasis, gender distribution, and degree of hypercalciuria, hyperuricosuria, hyperoxaluria, or hypocitraturia. The average frequency of pain attacks of patients with recurrent abdominal pain (RAP) ranged from 3.6 to 4.6 days of pain per month among the three groups, which is four to ninefold lower than that reported for children with functional or organic gastrointestinal RAP. The consistency of many clinical and urinary metabolic characteristics indicates a common underlying disorder in overt and occult urolithiasis. The increase of age at presentation from the normal sonography to microcalculi and calculi groups may reflect progressive crystal accretion leading ultimately to overt stone formation. PMID:21688190
Polito, Cesare; Apicella, Andrea; Marte, Antonio; Signoriello, Giuseppe; La Manna, Angela
Clinical and laboratory features of Macedonian children with OCRL mutations.
OCRL mutations, which are a hallmark of Lowe syndrome, have recently been found in patients with isolated renal phenotype (Dent-2 disease). In this report, we describe clinical and laboratory features in five Macedonian children with mutations in the OCRL gene. Children with a clinical diagnosis of Lowe syndrome or Dent disease underwent complete neurological and ophthalmological examination, imaging of the kidney and urinary tract, assessment of renal tubular function, and mutation analysis of the OCRL gene. Two children (18 months and 11 years, respectively) were diagnosed with Lowe syndrome on the basis of congenital cataracts, severe psychomotor retardation, and renal dysfunction. Both children had low molecular weight proteinuria (LMWP) and hypercalciuria, but not Fanconi syndrome. The older one had bilateral nephrolithiasis due to associated hypocitraturia and mild hyperoxaluria. Three children with asymptomatic proteinuria were diagnosed with Dent-2 disease; none had cataracts or neurological deficit. One child showed mild mental retardation. All had LMWP, hypercalciuria, and elevated enzymes (creatine phosphokinase, lactic dehydrogenase). All three children had an abnormal Tc-99m DMSA scan revealing poor visualization of the kidneys with a high radionuclide content in the bladder; none had nephrolithiasis or nephrocalcinosis. In conclusion, children with OCRL mutations may present with very mild phenotype (asymptomatic proteinuria with/without mild mental retardation) or severe classic oculocerebrorenal syndrome of Lowe. Elevated enzymes and abnormal results on the Tc-99m DMSA scan may be useful indicators for Dent-2 disease. PMID:21249396
Tasic, Velibor; Lozanovski, Vladimir J; Korneti, Petar; Ristoska-Bojkovska, Nadica; Sabolic-Avramovska, Vesna; Gucev, Zoran; Ludwig, Michael
Clinical features of diphtheria in thai children: a historic perspective.
To study the clinical and laboratory features of childhood diphtheria, the cases of 381 children with clinical and bacteriological diagnoses of diphtheria who were treated at the Children's Hospital between 1976 and 1985 were reviewed. Of these, 191 were males and 190 were females. The mean age was 4.6 years. Approximately 75% of the patients had no history of immunization. Common manifestations of diphtheria included patch (100%), fever (92.4%), upper respiratory tract infection (91.6%), upper airway obstruction (42.3%), hoarseness (36.7%), and bull neck (11.3%). The mean duration of fever prior to admission was 3.3 days with a range of 0-11 days. Patch sites included the tonsils (91.9%), the pharynx (55.9%), the larynx (27.8%) and others (24.4%). Complications included upper airway obstruction (42.3%), cardiac complications (10.0%) and neurological complications (4.7%). The mortality rate was 5.8%. There were significant associations between death and the presence of bull neck, laryngeal patch, airway obstruction and cardiac complications. Early recognition and prompt treatment will decrease complications and mortality in this group of patients. PMID:12236436
Pancharoen, Chitsanu; Mekmullica, Jutarat; Thisyakorn, Usa; Nimmannitya, Suchitra
Clinical and genetic features in Italian Bietti crystalline dystrophy patients
Aim The aim of the study was to describe the clinical and genetic features of 15 Italian patients with Bietti crystalline dystrophy (BCD). Methods All study participants underwent a complete ophthalmological examination, including standard electroretinogram (ERG), optical coherence tomography, microperimetry, autofluorescence and multifocal electroretinogram. The 11 exons of the CYP4V2 gene were sequenced. The effect of mutations on protein function was estimated by a combination of web based programs. Results 15 patients (eight women, 7 men, aged 29�60?years) with BCD were recruited into this study. Sequencing of CYP4V2 revealed nine sequence variants in four unrelated families and six isolated individuals with BCD. Seven of these variants were novel. Among the patients, even with the same genotype, considerable variability in phenotypic expression with different degrees of accumulation of the typical intraretinal crystalline deposits was detected. Moreover, we found that more than 50% of patients had recordable standard ERG responses and in two patients the responses were within normal limits after 20?years of symptom onset. Conclusions In conclusion, we have reported seven new mutations and illustrated the large range of genotypic and phenotypic variability in BCD, highlighting the lack of a clear genotype�phenotype correlation and underlining the existence of less severe clinical manifestations, probably linked to relatively mild mutations.
Rossi, Settimio; Testa, Francesco; Li, Anren; Yaylacioglu, Fulya; Gesualdo, Carlo; Hejtmancik, J Fielding; Simonelli, Francesca
Clinical features and outcome of acute hepatitis B in pregnancy
Background The impact of pregnancy on the clinical course of acute hepatitis B (AHB) is still largely unclear, mainly because most studies have not included matched controls. This study was conducted to investigate the clinical features and outcome of AHB in pregnancy using matched controls. Methods Consecutive AHB inpatients who were admitted to Jinan Infectious Disease Hospital, Jinan, between January 2006 and December 2010 were evaluated and followed. Demographic data, clinical manifestations, and results of laboratory tests were compared between pregnant patients and age and sex matched non-pregnant patients at admission, discharge, and final follow-up. Results A total of 618 AHB inpatients were identified during the study period. 22 pregnant patients and 87 age and sex matched non-pregnant patients were enrolled in this study. Prodromal fever was less common (0% vs. 20.7%, P?=?0.02), serum alanine aminotransferase levels were significantly lower, and HBsAg?>?250�IU/mL rate and serum bilirubin levels were significantly higher in pregnant patients than in non-pregnant patients. After a mean (range) of 7(5.2-8.3) months follow-up, 18.2% pregnant patients and 4.6% non-pregnant patients were still HBsAg positive (P?=?0.03). For pregnant patients, the relative risk (95% confidence interval) of HBsAg positive at the end of follow-up was 4.6 (1.1-20.2). The median (95% confidence interval) days of HBsAg seroclearance form disease onset in pregnant and non-pregnant patients were 145.0 (110.5-179.5) and 80.0 (62.6-97.4), respectively. Conclusions The HBsAg loss and seroconversion were delayed and lower in pregnant patients. Pregnancy might be a possible risk of chronicity following acute HBV infection.
Clinical and genetic features of Huntington disease in Sri Lanka
Background Huntington disease was one of the first neurological hereditary diseases for which genetic testing was made possible as early as 1993. The study describes the clinical and genetic characteristics of patients with Huntington disease in Sri Lanka. Methods Data of 35 consecutive patients tested from 2007 to 2012 at the Human Genetics Unit, Faculty of Medicine, University of Colombo was analyzed retrospectively. Clinical data and genetic diagnostic results were reviewed. Statistical analysis was performed using descriptive statistics. Results Thirty patients had fully penetrant (FP) CAG repeat mutations and 5 had reduced penetrant (RP) CAG repeat mutations. In the FP group mean ages of onset and diagnosis were 37.5 and 40.4�years, while in the RP group it was 63.0 and 64.8�years respectively. The age of diagnosis ranged from 15 to 72�years, with 2 patients with Juvenile onset (<20�years) and 3 with late onset (>60�years) Huntington disease. The symptoms at diagnosis were predominantly motor (32/35 -91%). Three patients had psychiatric and behavioral disorders. The age difference between onset and genetic diagnosis showed significant delay in females compared to males (p?0.05). Twenty two (62.8%) had a positive family history, with 13/22 (59.1%) showing a paternal inheritance of the disease. In both groups, those with a family history had a significantly lower age of presentation (p?0.05). The mean CAG repeat length in patients with FP alleles was 44.6?�?5 and RP alleles was 37.2?�?1.1. Age of onset and CAG repeat length of the HTT gene showed significant inverse correlation (p?0.0005, R2?=?0.727). Conclusions The clinical and genetic features seen in patients with Huntington disease in the Sri Lankan study population were similar to that previously reported in literature.
Clinical features of childhood granulomatosis with polyangiitis (wegener's granulomatosis)
Background Granulomatosis with polyangiitis (GPA), formerly known as Wegener�s granulomatosis (WG), belongs to the group of ANCA-associated necrotizing vasculitides. This study describes the clinical picture of the disease in a large cohort of GPA paediatric patients. Children with age at diagnosis???18�years, fulfilling the EULAR/PRINTO/PRES GPA/WG classification criteria were extracted from the PRINTO vasculitis database. The clinical signs/symptoms and laboratory features were analysed before or at the time of diagnosis and at least 3�months thereafter and compared with other paediatric and adult case series (>50 patients) derived from the literature. Findings The 56 children with GPA/WG were predominantly females (68%) and Caucasians (82%) with a median age at disease onset of 11.7�years, and a median delay in diagnosis of 4.2�months. The most frequent organ systems involved before/at the time of diagnosis were ears, nose, throat (91%), constitutional (malaise, fever, weight loss) (89%), respiratory (79%), mucosa and skin (64%), musculoskeletal (59%), and eye (35%), 67% were ANCA-PR3 positive, while haematuria/proteinuria was present in?>?50% of the children. In adult series, the frequency of female involvement ranged from 29% to 50% with lower frequencies of constitutional (fever, weight loss), ears, nose, throat (oral/nasal ulceration, otitis/aural discharge), respiratory (tracheal/endobronchial stenosis/obstruction), laboratory involvement and higher frequency of conductive hearing loss than in this paediatric series. Conclusions Paediatric patients compared to adults with GPA/WG have similar pattern of clinical manifestations but different frequencies of organ involvement.
Did de novo MELAS common mitochondrial DNA point mutation (mtDNA 3243, A ? G transition) occur in the mother of a proband of a Japanese MELAS pedigree?
MELAS is a major maternally inherited mitochondrial (mt) encephalomyopathy of which 80% of cases are associated with mtDNA point mutation (mtDNA 3243, A ? G transition) which exists under heteroplasmic conditions with wild-type mtDNA. The origin of this mutation remains obscure in the reported pedigrees. I analyzed this mutation in a Japanese MELAS pedigree by PCR. The proband had typical
Masahiko Yamamoto
Disease-causing mitochondrial heteroplasmy segregated within induced pluripotent stem cell clones derived from a MELAS patient
Mitochondrial diseases display pathological phenotypes according to the mixture of mutant versus wild-type mitochondrial DNA (mtDNA), known as heteroplasmy. We herein examined the impact of nuclear reprogramming and clonal isolation of induced pluripotent stem cells (iPSC) on mitochondrial heteroplasmy. Patient-derived dermal fibroblasts with a prototypical mitochondrial deficiency diagnosed as MELAS demonstrated mitochondrial dysfunction with reduced oxidative reserve due to heteroplasmy at position G13513A in the ND5 subunit of complex I. Bioengineered iPSC clones acquired pluripotency with multi-lineage differentiation capacity and demonstrated reduction in mitochondrial density and oxygen consumption distinguishing them from the somatic source. Consistent with the cellular mosaicism of the original patient-derived fibroblasts, the MELAS-iPSC clones contained a similar range of mtDNA heteroplasmy of the disease-causing mutation with identical profiles in the remaining mtDNA. High-heteroplasmy iPSC clones were used to demonstrate that extended stem cell passaging was sufficient to purge mutant mtDNA, resulting in isogenic iPSC subclones with various degrees of disease-causing genotypes. Upon comparative differentiation of iPSC clones, improved cardiogenic yield was associated with iPSC clones containing lower heteroplasmy compared to isogenic clones with high heteroplasmy. Thus, mtDNA heteroplasmic segregation within patient-derived stem cell lines enables direct comparison of genotype/phenotype relationships in progenitor cells and lineage-restricted progeny, and indicates that cell fate decisions are regulated as a function of mtDNA mutation load. The novel nuclear reprogramming-based model system introduces a disease-in-a-dish tool to examine the impact of mutant genotypes for MELAS patients in bioengineered tissues and a cellular probe for molecular features of individual mitochondrial diseases.
Folmes, Clifford D.L.; Martinez-Fernandez, Almudena; Perales-Clemente, Ester; Li, Xing; McDonald, Amber; Oglesbee, Devin; Hrstka, Sybil; Perez-Terzic, Carmen; Terzic, Andre; Nelson, Timothy J.
Clinical features of a paediatric asthma population in Trinidad.
AIM: Clinical features and management of paediatric asthma, highly prevalent in the Caribbean, was explored in Trinidadian children. MATERIALS: Children (2-16 years) with acute [visiting Accident and Emergency (A&E) in the past 12 months (50.2%, 120)] or stable asthma [controlled during the previous 3 months (49.8%, 119)] were studied. RESULTS: There were more (P?0.001) boys (71.5%) than girls. Asthma was associated with asthmatic mothers (48.5%), fathers (19.2%) and both parents (15.1%) (P?0.001). Children's average age of first wheeze was 2.5 (standard deviation?=?1.3) years; 30.1% were nebulized before 1 year. In the past 12 months, frequencies of A&E visits were once (20.6%), >1 (61.9%) and >3 times (26.4%) (P?0.001). Sufferers of exacerbations showed negative logistic regression for age (-0.129, standard error?=?0.039, P?0.001) independent of gender. Acute asthmatics who suffered cough, fever and sore throat in the preceding week were respectively 15.2 [odds ratio (OR)?=?15.2, 95% confidence interval (CI)?=?6.8-34.0], 13.7 (OR?=?13.7, 95% CI?=?6.7-28.2) and 3.4 (OR?=?3.4, 95% CI?=?1.7-6.7) times more likely to suffer wheeze exacerbations than stable children. Most stable children (76.5%) inhaled corticosteroids with salbutamol reliever compared with 22.5% of acute asthmatics, whereas 40.8% of the latter group used salbutamol alone compared with 19.3% of stable children (P?0.001). CONCLUSION: Childhood wheeze occurs before 3 years and is associated with maternal asthma. Cough, fever and sore throat in the previous week are strongly associated with exacerbations. Defining these associations could enhance preventive approaches to combat childhood asthma. Please cite this paper as: Matthew J, Bekele I and Pinto Pereira LM. Clinical features of a paediatric asthma population in Trinidad. Clin Respir J 2012; ��: ��-��. DOI:10.1111/j.1752-699X.2012.00301.x. PMID:22650616
Matthew, Jason; Bekele, Isaac; Pinto Pereira, Lexley Maureen
Hippocampal sclerosis in advanced age: clinical and pathological features
Hippocampal sclerosis is a relatively common neuropathological finding (?10% of individuals over the age of 85 years) characterized by cell loss and gliosis in the hippocampus that is not explained by Alzheimer�s disease. Hippocampal sclerosis pathology can be associated with different underlying causes, and we refer to hippocampal sclerosis in the aged brain as hippocampal sclerosis associated with ageing. Much remains unknown about hippocampal sclerosis associated with ageing. We combined three different large autopsy cohorts: University of Kentucky Alzheimer�s Disease Centre, the Nun Study and the Georgia Centenarian Study to obtain a pool of 1110 patients, all of whom were evaluated neuropathologically at the University of Kentucky. We focused on the subset of cases with neuropathology-confirmed hippocampal sclerosis (n = 106). For individuals aged ?95 years at death (n = 179 in our sample), each year of life beyond the age of 95 years correlated with increased prevalence of hippocampal sclerosis pathology and decreased prevalence of �definite� Alzheimer�s disease pathology. Aberrant TAR DNA protein 43 immunohistochemistry was seen in 89.9% of hippocampal sclerosis positive patients compared with 9.7% of hippocampal sclerosis negative patients. TAR DNA protein 43 immunohistochemistry can be used to demonstrate that the disease is usually bilateral even when hippocampal sclerosis pathology is not obvious by haematoxylin and eosin stains. TAR DNA protein 43 immunohistochemistry was negative on brain sections from younger individuals (n = 10) after hippocampectomy due to seizures, who had pathologically confirmed hippocampal sclerosis. There was no association between cases with hippocampal sclerosis associated with ageing and apolipoprotein E genotype. Age of death and clinical features of hippocampal sclerosis associated with ageing (with or without aberrant TAR DNA protein 43) were distinct from previously published cases of frontotemporal lobar degeneration TAR DNA protein 43. To help sharpen our ability to discriminate patients with hippocampal sclerosis associated with ageing clinically, the longitudinal cognitive profile of 43 patients with hippocampal sclerosis associated with ageing was compared with the profiles of 75 controls matched for age, gender, education level and apolipoprotein E genotype. These individuals were followed from intake assessment, with 8.2 (average) longitudinal cognitive assessments. A neuropsychological profile with relatively high-verbal fluency but low word list recall distinguished the hippocampal sclerosis associated with ageing group at intake (P < 0.015) and also 5.5�6.5 years before death (P < 0.005). This may provide a first step in clinical differentiation of hippocampal sclerosis associated with ageing versus pure Alzheimer�s disease in their earliest stages. In summary, in the largest series of autopsy-verified patients with hippocampal sclerosis to date, we characterized the clinical and pathological features associated with hippocampal sclerosis associated with ageing.
Schmitt, Frederick A.; Lin, Yushun; Abner, Erin L.; Jicha, Gregory A.; Patel, Ela; Thomason, Paula C.; Neltner, Janna H.; Smith, Charles D.; Santacruz, Karen S.; Sonnen, Joshua A.; Poon, Leonard W.; Gearing, Marla; Green, Robert C.; Woodard, John L.; Van Eldik, Linda J.; Kryscio, Richard J.
[Clinical and biological features of 8 patients with Richter's syndrome].
In order to evaluate the clinical, biological features and prognostic factors of Richter's syndrome (RS), 8 RS patients were analyzed retrospectively. The serological test, multiplex parameter flow cytometry, conventional cytogenetic analysis, FISH technique and PCR combined with sequence detection were used to detect the LDH, ?(2)-MG, TK1, SF, CA125, ZAP-70, chromosome karyotype, ATM and p53 gene deletion, as well as +12 abnormality and IgVH mutation. The results indicated that 7 out of 8 patients transformed to diffuse large B cell lymphoma (DLBCL) and 1 patient transformed to Hodgkin lymphoma (HL). Among 8 patients, LDH level in 7 patients, ?(2)-MG level in 4 patients, SF level in 7 patients, CA-125 level in 4 patients and TK1 level in 1 patient exceeded the normal range. Meanwhile, ZAP-70 and CD38 were expressed positively in 4 and 7 out of 8 patients respectively. Unmutated IgVH was found in 5 patients, and 4 patients had the complex chromosome abnormalities. +12 and p53 deletion was found in 1 patient. 8 patients were divided into two groups (Binet A + B and Binet C), the mean time from diagnosis to progression was 98.5 months in Binet A + B group, compared with 38.3 months in Binet C group, there was significant difference between two groups (p = 0.021). Mean overall survival was 123.8 months and 49.8 months in two groups, respectively (p = 0.049). The mean survival after transformation was 34.5 months in Binet A + B group and 10.3 months in Binet C group. In conclusion, the level of LDH, ?(2)-MG and SF are higher in RS patients in Binet C group, and so are the incidence of high expressed ZAP-70 and CD 38, unmutated IgVH. The clinical stage may be the risk and prognostic factors for RS transformation. PMID:21176359
Zhu, Hua-Yuan; Xu, Wei; Miao, Kou-Rong; Hong, Ming; Fang, Cheng; Zhu, Dan-Xia; Wu, Yu-Jie; Qiao, Chun; Li, Jian-Yong
Novel form of intermediate salla disease: clinical and neuroimaging features.
The objective of this article is to describe the clinical, radiographic, and molecular genetic features of a new intermediate form of free sialic storage disease. Free sialic storage disease is a rare autosomal recessive lysosomal disorder that results from mutations in SLC17A5, a gene that codes for sialin, a lysosomal membrane sialic acid transporting protein. Infantile sialic acid storage disease has a severe phenotype, and Salla disease (Finnish variant) is generally milder in phenotype; intermediate forms have also been described. There have been few reports of magnetic resonance imaging (MRI) in the sialic acid storage disorders; leukodystrophy has been the characteristic finding, along with hypoplasia of the corpus callosum. An 8-month-old non-Finnish child presented with hypotonia and global developmental delay. Serial MRIs with magnetic resonance spectroscopy at 9 and 16 months revealed severe hypomyelination and hypogenesis of the corpus callosum. There was mild elevation of urinary sialic acid (4.5 times above normal). Electron microscopy of a skin biopsy showed lysosomal enlargement with oligosaccharide storage, and confirmatory molecular genetic testing revealed compound heterozygosity for two new SLC17A5 mutations. Free sialic storage disease of the intermediate type is an important part of the differential diagnosis of a hypotonic, delayed child with abnormal white matter on MRI. Intermediate types of free sialic acid overlap in phenotype with infantile sialic acid storage disease and the milder Salla disease and thus might be more difficult to identify clinically; the lack of Finnish ethnicity should not preclude testing for this probably under-recognized disorder. White-matter abnormalities appear to be characteristic of the entire phenotypic spectrum. PMID:16417876
Morse, Richard P; Kleta, Robert; Alroy, Joseph; Gahl, William A
Eosinophilic colitis: epidemiology, clinical features, and current management
Primary eosinophilic gastrointestinal disorders (EGIDs) represent a spectrum of inflammatory gastrointestinal disorders in which eosinophils infiltrate the gut in the absence of known causes for such tissue eosinophilia. EGIDs can be subgrouped as eosinophilic esophagitis (EE), eosinophilic gastroenteritis (EG), and eosinophilic colitis (EC). The least frequent manifestation of EGIDs is EC. EC is a heterogeneous entity with a bimodal age distribution, presenting with either an acute self-limited bloody diarrhea in otherwise healthy infants or as a more chronic relapsing colitis in young adults. The pathophysiology of primary EC appears related to altered hypersensitivity, principally as a food allergy in infants and T lymphocyte-mediated (i.e. non-IgE associated) in young adults. In adults, symptoms include diarrhea, abdominal pain, and weight loss. Endoscopic changes are generally modest, featuring edema and patchy granularity. Although standardized criteria are not yet established, the diagnosis of EC depends on histopathology that identifies an excess of eosinophils. Therapeutic approaches are based on case reports and small case series, as prospective randomized controlled trials are lacking. Eosinophilic colitis in infants is a rather benign, frequently food-related entity and dietary elimination of the aggressor often resolves the disorder within days. Adolescent or older patients require more aggressive medical management including: glucocorticoids, anti-histamines, leukotriene receptors antagonists as well as novel approaches employing biologics that target interleukin-5 (IL-5) and IgE. This review article summarizes the current knowledge of EC, its epidemiology, clinical manifestations, diagnosis, and treatment.
Alfadda, Abdulrahman A.; Storr, Martin A.; Shaffer, Eldon A.
Mucocele and fibroma: treatment and clinical features for differential diagnosis.
Mucocele is a benign lesion occurring in the buccal mucosa as a result of the rupture of a salivary gland duct and consequent outpouring of mucin into soft tissue. It is usually caused by a local trauma, although in many cases the etiology is uncertain. Mucocele is more commonly found in children and young adults, and the most frequent site is the lower inner portion of the lips. Fibroma, on the other hand, is a benign tumor of fibrous connective tissue that can be considered a reactionary connective tissue hyperplasia in response to trauma and irritation. They usually present hard consistency, are nodular and asymptomatic, with a similar color to the mucosa, sessile base, smooth surface, located in the buccal mucosa along the line of occlusion, tongue and lip mucosa. Conventional treatment for both lesions is conservative surgical excision. Recurrence rate is low for fibroma and high for oral mucoceles. This report presents a series of cases of mucocele and fibroma treated by surgical excision or enucleation and the respective follow-up routine in the dental clinic and discusses the features to be considered in order to distinguish these lesions from each other. PMID:24474300
Val�rio, Rodrigo Alexandre; de Queiroz, Alexandra Mussolino; Romualdo, Priscila Coutinho; Brentegani, Luiz Guilherme; de Paula-Silva, Francisco Wanderley Garcia
Delta hepatitis: molecular biology and clinical and epidemiological features.
Hepatitis delta virus, discovered in 1977, requires the help of hepatitis B virus to replicate in hepatocytes and is an important cause of acute, fulminant, and chronic liver disease in many regions of the world. Because of the helper function of hepatitis delta virus, infection with it occurs either as a coinfection with hepatitis B or as a superinfection of a carrier of hepatitis B surface antigen. Although the mechanisms of transmission are similar to those of hepatitis B virus, the patterns of transmission of delta virus vary widely around the world. In regions of the world in which hepatitis delta virus infection is not endemic, the disease is confined to groups at high risk of acquiring hepatitis B infection and high-risk hepatitis B carriers. Because of the propensity of this viral infection to cause fulminant as well as chronic liver disease, continued incursion of hepatitis delta virus into areas of the world where persistent hepatitis B infection is endemic will have serious implications. Prevention depends on the widespread use of hepatitis B vaccine. This review focuses on the molecular biology and the clinical and epidemiologic features of this important viral infection.
Polish, L B; Gallagher, M; Fields, H A; Hadler, S C
Update on clinical and immunological features of eosinophilic gastrointestinal diseases
Purpose of review Eosinophilic gastrointestinal diseases (EGIDs) are an increasingly common heterogeneous group of intestinal diseases. The purpose of this review is to present the latest developments in the care of patients with EGIDs and to summarize a growing literature defining the clinical features and mechanistic elements of eosinophils and their complex relationships with the gastrointestinal tract. Recent findings Recent studies continue to define what constitutes �normal� and �abnormal� numbers of eosinophils in the different sections of the gastrointestinal tract. Symptom complexes of EGIDs appear to be related primarily to the mucosal, as opposed to the muscular or serosal, forms of EGIDs. Dissection of the mucosal microenvironment is uncovering a complex array of cells, other than eosinophils, that likely contribute to the inflammatory response associated with EGIDs. Mechanistic studies have identified genetic perturbations (eotaxin-3, thymic stromal lymphopoietin, IL-13, and filaggrin) that may also contribute to the development of the most often encountered and well studied EGID, eosinophilic esophagitis. Summary Clinicians should remain aware of EGIDs as a diagnostic possibility for patients with common gastrointestinal symptoms. Additional research is needed to determine mechanistic processes leading to dysfunction associated with eosinophilic gastrointestinal inflammation.
Masterson, Joanne C.; Furuta, Glenn T.; Lee, James J.
Etiological and Clinical Features of Childhood Psychotic Symptoms
Context It has been reported that childhood psychotic symptoms are common in the general population and may signal neurodevelopmental processes that lead to schizophrenia. However, it is not clear whether these symptoms are associated with the same extensive risk factors established for adult schizophrenia. Objective To examine the construct validity of children�s self-reported psychotic symptoms by testing whether these symptoms share the risk factors and clinical features of adult schizophrenia. Design Prospective, longitudinal cohort study of a nationally representative birth cohort in Great Britain. Participants A total of 2232 twelve-year-old children followed up since age 5 years (retention, 96%). Main Outcome Measure Children�s self-reported hallucinations and delusions. Results Children�s psychotic symptoms are familial and heritable and are associated with social risk factors (eg, urbanicity); cognitive impairments at age 5; home-rearing risk factors (eg, maternal expressed emotion); behavioral, emotional, and educational problems at age 5; and comorbid conditions, including self-harm. Conclusions The results provide a comprehensive picture of the construct validity of children�s self-reported psychotic symptoms. For researchers, the findings indicate that children who have psychotic symptoms can be recruited for neuroscience research to determine the pathogenesis of schizophrenia. For clinicians, the findings indicate that psychotic symptoms in childhood are often a marker of an impaired developmental process and should be actively assessed.
Polanczyk, Guilherme; Moffitt, Terrie E.; Arseneault, Louise; Cannon, Mary; Ambler, Antony; Keefe, Richard S. E.; Houts, Renate; Odgers, Candice L.; Caspi, Avshalom
Idiopathic hypertrophic pachymeningitis: Clinical, laboratory and neuroradiologic features in China.
Hypertrophic pachymeningitis is a rare chronic inflammatory disorder characterized by marked fibrous thickening of the cerebral and/or spinal dura mater. Clinical, laboratory, neuroradiologic and therapeutic data from 12 patients with idiopathic hypertrophic pachymeningitis (IHP) from our department were retrospectively studied. There were four men and eight women with a mean age of 49�15.3years, and more than half of the patients (58%) were aged 40-60years. Headache was the most common symptom, occurring in 92% of patients. Headache improved markedly and rapidly after glucocorticoid treatment. Optic nerve involvement was noted in seven patients (58%). C-reactive protein levels increased in 80% and the erythrocyte sedimentation rate increased in 71% of patients. Three patients were positive for autoantibodies, including antinuclear antibodies (ANA), perinuclear anti-neutrophil cytoplasmic antibodies (p-ANCA), anti-cardiolipin antibodies (ACA) and rheumatoid factor (RF). Cerebrospinal fluid showed inflammatory changes, and protein levels were low to moderately elevated. MRI revealed a thickened dura in all patients, and five patients (42%) were diagnosed with sinus stenosis/occlusion. IHP is a chronic inflammatory disorder of the dura with three groups of symptoms, namely headache, cranial nerve palsy and symptoms due to sinus stenosis/occlusion. However, IHP has different features in China in that it predominantly affects women and the age of onset is younger. Sinus stenosis/occlusion is relatively common in IHP patients in China. PMID:24589555
Zhao, Mangsuo; Geng, Tongchao; Qiao, Liyan; Shi, Jie; Xie, Jinghui; Huang, Fangjie; Lin, Xianzhong; Wang, Jing; Zuo, Huancong
Clinical, morphologic, and immunohistochemical features of canine orbital hibernomas.
Hibernomas are uncommon benign tumors of brown fat that occur in humans and various animal species. They have not been observed in the orbit of dogs, humans, or other animals. Here we report clinical, light and electron microscopic, and immunohistochemical features of a series of 7 hibernomas arising in the orbital region of dogs. These neoplasms occurred in adult dogs with no breed predilection. The mean age of the affected dogs was 10.4 years (range, 8-13 years). All neoplasms presented as soft lobular masses composed of predominantly round or polygonal neoplastic cells with granular eosinophilic and vacuolated cytoplasm resembling adipocytes. The cytoplasm contained large numbers of pleomorphic mitochondria with dense matrices and indistinct cristae. Immunohistochemical evaluation confirmed positive labeling of neoplastic cells from all cases with uncoupling protein 1 (UCP-1) consistent with brown fat differentiation. Interestingly, rare neoplastic cells also expressed myogenin and myoD, possibly suggesting a common progenitor cell for neoplastic brown adipose and skeletal muscle cells. PMID:23794150
Ravi, M; Schobert, C S; Kiupel, M; Dubielzig, R R
Clinical features, diagnosis, and management of enterovirus 71.
Although poliomyelitis has been mostly eradicated worldwide, large outbreaks of the related enterovirus 71 have been seen in Asia-Pacific countries in the past 10 years. This virus mostly affects children, manifesting as hand, foot, and mouth disease, aseptic meningitis, poliomyelitis-like acute flaccid paralysis, brainstem encephalitis, and other severe systemic disorders, including especially pulmonary oedema and cardiorespiratory collapse. Clinical predictors of severe disease include high temperature and lethargy, and lumbar puncture might reveal pleocytosis. Many diagnostic tests are available, but PCR of throat swabs and vesicle fluid, if available, is among the most efficient. Features of inflammation, particularly in the anterior horns of the spinal cord, the dorsal pons, and the medulla can be clearly seen on MRI. No established antiviral treatment is available. Intravenous immunoglobulin seems to be beneficial in severe disease, perhaps through non-specific anti-inflammatory mechanisms, but has not been tested in any formal trials. Milrinone might be helpful in patients with cardiac dysfunction. PMID:20965438
Ooi, Mong How; Wong, See Chang; Lewthwaite, Penny; Cardosa, Mary Jane; Solomon, Tom
Risk factors and clinical features of text message injuries.
Use of mobile phone and sending text message is a very common in today's life. While sending a text message the users need to use their thumb and other palm muscles extensively. The thumb most of the time adducted on the key pad of the mobile and use high force to type the letters. Studies in literature showed that text messaging has an adverse effect on musculoskeletal system of hand. But the extensive study on the type of disorders set in among the users who extensively use mobile phone for texting. This study aims at to evaluate risk factor and clinical feature of the MSD due to hand held devices. Twenty seven subjects participated in this study. Predefined protocols were used to evaluate type of MSD occurred among the subjects. The study revealed that development of tendinitis in extensor pollicis longus, myofascial pain syndrome (70.37%) of adductor pollicis, 1st interossei and extensor digitorum communis . Other associated problems diagnosed were thoracic outlet syndrome (51.85%), fibromyalgia syndrome (25.93%), hypothyroidism (7.41%), wrist tendinitis (14.81%) and De Quervain's syndrome (7.41%). It has been observed that the pathology were tendinitis of extensor pollicis longus, myofascial pain syndrome of thenar muscles and 1st interossei, extensor digitorum communis. PMID:22316873
Sharan, Deepak; Ajeesh, P S
Role of taurine in the pathologies of MELAS and MERRF.
Taurine is an abundant ?-amino acid that concentrates in the mitochondria, where it participates in the conjugation of tRNAs for leucine, lysine, glutamate and glutamine. The formation of 5-taurinomethyluridine-tRNA strengthens the interaction of the anticodon with the codon, thereby promoting the decoding of several codons, including those for AAG, UUG, CAG and GAG. By preventing these series of events, taurine deficiency appears to diminish the formation of 5-taurinomethyluridine and causes inefficient decoding for the mitochondrial codons of leucine, lysine, glutamate and glutamine. The resulting reduction in the biosynthesis of mitochondria-encoded proteins deprives the respiratory chain of subunits required for the assembly of respiratory chain complexes. Hence, taurine deficiency is associated with a reduction in oxygen consumption, an elevation in glycolysis and lactate production and a decline in ATP production. A similar sequence of events takes place in mitochondrial diseases MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) and MERRF (myoclonic epilepsy and ragged-red fiber syndrome). In both diseases, mutations in their respective tRNAs interfere with the formation of 5-taurinomethyluridine in the wobble position. Hence, the taurine-deficient phenotype resembles the phenotypes of MELAS and MERRF. PMID:23179085
Schaffer, Stephen W; Jong, Chian Ju; Ito, Takashi; Azuma, Junichi
MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation.
The A to G transition mutation at position 3260 of the mitochondrial genome is usually associated with cardiomyopathy and myopathy. One Japanese kindred reported the phenotype of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome) in association with the A3260G mtDNA mutation. We describe the first Caucasian cases of MELAS syndrome associated with the A3260G mutation. Furthermore, this mutation was associated with exercise-induced rhabdomyolysis, hearing loss, seizures, cardiomyopathy, and autism in the large kindred. We conclude that the A3260G mtDNA mutation is associated with wide phenotypic heterogeneity with MELAS and other "classical" mitochondrial phenotypes being manifestations. PMID:20965148
Connolly, Barbara S; Feigenbaum, Annette S J; Robinson, Brian H; Dipchand, Anne I; Simon, David K; Tarnopolsky, Mark A
Difference of clinical features in childhood Mycoplasma pneumoniae pneumonia
Background M. pneumoniae pneumonia (MP) has been reported in 10-40% of community-acquired pneumonia cases. We aimed to evaluate the difference of clinical features in children with MP, according to their age and chest radiographic patterns. Methods The diagnosis of MP was made by examinations at both admission and discharge and by two serologic tests: the indirect microparticle agglutinin assay (?1:40) and the cold agglutinins titer (?1:32). A total of 191 children with MP were grouped by age: ?2 years of age (29 patients), 3-5 years of age (81 patients), and ?6 years of age (81 patients). They were also grouped by pneumonia pattern: bronchopneumonia group (96 patients) and segmental/lobar pneumonia group (95 patients). Results Eighty-six patients (45%) were seroconverters, and the others showed increased antibody titers during hospitalization. Among the three age groups, the oldest children showed the longest duration of fever, highest C-reactive protein (CRP) values, and the most severe pneumonia pattern. The patients with segmental/lobar pneumonia were older and had longer fever duration and lower white blood cell (WBC) and lymphocyte counts, compared with those with bronchopneumonia. The patient group with the most severe pulmonary lesions had the most prolonged fever, highest CRP, highest rate of seroconverters, and lowest lymphocyte counts. Thrombocytosis was observed in 8% of patients at admission, but in 33% of patients at discharge. Conclusions In MP, older children had more prolonged fever and more severe pulmonary lesions. The severity of pulmonary lesions was associated with the absence of diagnostic IgM antibodies at presentation and lymphocyte count. Short-term paired IgM serologic test may be mandatory for early and definitive diagnosis of MP.
Clinical features of chikungunya infection in Sri Lanka
Objective To investigate the clinical features of chikungunya fever (CHIKF) outbreak in Sri Lanka in 2006 and to estimate the relative risk for CHIKF for various demographic factors. Methods A total of 885 individuals belonging to 200 families were studied individually for surveillance of this disease, symptoms, contraction order within the family and means of treatments. Relative risks for CHIKF for demographic characters such as gender, age and educational levels were estimated. The associations of symptoms with age and gender were also studied. Results The estimated surveillance of CHIKF in the studied population was 89.2%. The duration of suffering due to this disease was 50.9 d (95% CI, 47.3, 53.9 d) with fever for 3.9 d (95% CI, 3.7, 4.1 d). 93% of the CHIKF patients felt at least one type of joint pain and 8% felt joint swellings. Rash was observed in 15.1% of the patients. Buccal bleeding and mouth ulcer were observed in 1.5% and 9.3% respectively. About 22.7% of the CHIKF patients had vomiting. Female had 1.48 folder higher relative risk for CHIKF infection. The duration suffered due to CHIKF, duration of fever and contraction order within family were highly associated with age (P<0.000). Female patients had more than one folder higher relative risks for the symptoms such as rash, vomiting, buccal bleeding and mouth ulcer (P<0.000). Conclusions The surveillance of CHIKF in Sri Lanka was a severe outbreak which infected much on female and caused more suffering on aged population. The symptoms such as rash, bleeding from mucosa, mouth ulcer and vomiting were highly associated with gender. The reasons for these observations need to be further explored.
Razmy, Athambawa Mohamed
Clinical features and classification of bipartite or tripartite patella.
The purposes of this study were to report clinical features of the developmental anomaly of ossification type bipartite or tripartite patella using a large series and to propose a new classification for the developmental anomaly of ossification type bipartite or tripartite patella. The first author prospectively examined 111 patients with symptomatic or asymptomatic bipartite (131 knees) or tripartite (8 knees) patellae. Eighty-six (77%) were male and 25 (23%) were female. Forty-three patients (39%) showed right knee involvement and 40 (36%) showed left, while 28 (25%) showed involvement in both knees. Forty-six bipartite and 4 tripartite patellae (36%) were symptomatic and 85 bipartite and 4 tripartite patellae (64%) were asymptomatic at initial examination. The median age at onset of pain of symptomatic patients (50 knees) was 15.6���8.1�years (range, 10-51�years). The most common symptom was pain at the separated fragments during or after strenuous activity in all 50 knees. Physical examination revealed localized tenderness over the separated fragments in all 50 knees. Bipartite or tripartite patellae were classified by evaluating location and number of fragments. One hundred fifteen knees (83%) were classified as supero-lateral bipartite type, 16 (12%) were lateral bipartite type, 6 (4%) were supero-lateral and lateral tripartite type, and 2 (1%) were supero-lateral tripartite type. For the developmental anomaly of ossification type bipartite or tripartite patella, a classification based on both location and number of fragments is simple and easy to understand and applicable to all types of bipartite or tripartite patella. PMID:20111951
Oohashi, Yoshikazu; Koshino, Tomihisa; Oohashi, Yoshinori
Clinical features of fifteen patients with the hypereosinophilic syndrome.
Fifteen patients with the hypereosinophilic syndrome were studied during a period of 6.5 years. The mean age at onset was 36 years. Two were female. The commonest presenting symptoms were nocturnal sweating with or without severe coughing attacks, symptoms of cardiovascular disease, anorexia and weight loss, neurological and gastrointestinal symptoms and itching with or without skin lesions. The mean blood eosinophil counts at presentation were 20.1 X 10(9)/l. Eight patients had previous allergic or parasitic disease which could have predisposed them to the development of hypereosinophilia. Eight patients had raised serum immunoglobulin levels: IgM in five, IgE in four and IgG in one. Five of nine patients had raised serum eosinophil cationic protein levels. Episodes of clinical relapse occurred with increased white blood counts and were treated with prednisolone and cytotoxic drugs. Thrombotic and embolic complications developed in 10 patients, despite treatment with anticoagulants and inhibitors of platelet function, and were the cause of death in three. Two patients with severe endomyocardial fibrosis responded well to cardiac surgery, and a third required emergency mitral valve replacement. The 12 surviving patients have lived 0.8-11.5 years (mean 4.4), since the onset of their illness. It is concluded that the hypereosinophilic syndrome has distinctive features with an episodic course. The principal complications affect the cardiovascular system, especially endomyocardial fibrosis and thromboembolic occlusion of large and small blood vessels in many organs. Although treatment is usually effective in overcoming relapses, the underlying disease process appears to be unaffected. Despite this, patients can have prolonged periods of remission and may survive for many years. PMID:6878618
Spry, C J; Davies, J; Tai, P C; Olsen, E G; Oakley, C M; Goodwin, J F
Fecal incontinence in men: Causes and clinical and manometric features
AIM: To determine the causes and characteristics of fecal incontinence in men and to compare these features with those presented by a group of women with the same problem. METHODS: We analyzed the medical history, clinical and manometric data from 119 men with fecal incontinence studied in our unit and compared these data with those obtained from 645 women studied for the same problem. Response to treatment was evaluated after 6 mo of follow-up. RESULTS: Fifteen percent of patients studied in our unit for fecal incontinence were male. Men took longer than women before asking for medical help. Ano-rectal surgery was the most common risk factor for men related to fecal incontinence. Chronic diarrhea was present in more than 40% of patients in both groups. Decreased resting and external anal sphincter pressures were more frequent in women. No significant differences existed between the sexes regarding rectal sensitivity and recto-anal inhibitory reflex. In 17.8% of men, all presenting soiling, manometric findings did not justify fecal incontinence. Response to treatment was good in both groups, as 80.4% of patients improved and fecal incontinence disappeared in 13.2% of them. CONCLUSION: In our series, it was common that men waited longer in seeking medical help for fecal incontinence. Ano-rectal surgery was the major cause of this problem. Chronic diarrhea was a predisposing factor in both sexes. Manometric differences between groups were limited to an increased frequency of hypotony of the external anal sphincter in women. Fecal incontinence was controllable in most patients.
Munoz-Yague, Teresa; Solis-Munoz, Pablo; Ciriza de los Rios, Constanza; Munoz-Garrido, Francisco; Vara, Jesus; Solis-Herruzo, Jose Antonio
Lichen striatus: clinical and laboratory features of 115 children.
To analyze the clinical features, response to treatment, and follow-up of lichen striatus and any associated symptoms or disease, we designed a retrospective study involving 115 affected children at the Pediatric Dermatology Unit of the Department of Dermatology of the University of Bologna, Bologna, Italy. Between January 1989 and January 2000 we diagnosed lichen striatus in 37 boys and 78 girls (mean age 4 years 5 months). We studied their family history and the season of onset, morphology, distribution, extent, duration, histopathology, and treatment of their lichen striatus. We found that family history was negative in all our patients except for two pairs of siblings. The majority of children had the disease in the cold seasons; precipitating factors were found in only five cases. The most frequently involved sites were the limbs, with no substantial difference between upper and lower limb involvement. When lichen striatus was located on the trunk and face, it always followed Blaschko lines; in seven children the bands on the limbs appeared to be along the axial lines of Sherrington. In 70 cases, lichen striatus was associated with atopy. The mean duration of the disease was 6 months and relapses were observed in five children, and in one instance the disease had a prolonged course. Only a few case study series of lichen striatus in children have been reported and ours is the largest to date. The etiology of lichen striatus remains unknown in the majority of our patients. The confirmed association with atopy observed in our patients may be a predisposing factor. It has generally been accepted that lichen striatus follows the lines of Blaschko, and this distribution is a sign of both a topographic and a pathogenetic concept. In patients where lichen striatus is along axial lines, a locus minoris resistentiae, we suppose that this distribution may only be an illusory phenomenon in instances in which the trigger factor prefers this route, consisting of several successive Blaschko lines, but appearing as a single band. PMID:15165195
Patrizi, Annalisa; Neri, Iria; Fiorentini, Cristina; Bonci, Angela; Ricci, Giampaolo
Senile Systemic Amyloidosis: Clinical Features at Presentation and Outcome
Background Cardiac amyloidosis is a fatal disease whose prognosis and treatment rely on identification of the amyloid type. In our aging population transthyretin amyloidosis (ATTRwt) is common and must be differentiated from other amyloid types. We report the clinical presentation, natural history, and prognostic features of ATTRwt compared with cardiac?isolated AL amyloidosis and calculate the probability of disease diagnosis of ATTRwt from baseline factors. Methods and Results All patients with biopsy?proven ATTRwt (102 cases) and isolated cardiac AL (36 cases) seen from 2002 to 2011 at the UK National Amyloidosis Center were included. Median survival from the onset of symptoms was 6.07 years in the ATTRwt group and 1.7 years in the AL group. Positive troponin, a pacemaker, and increasing New York Heart Association (NYHA) class were associated with worse survival in ATTRwt patients on univariate analysis. All patients with isolated cardiac AL and 24.1% of patients with ATTRwt had evidence of a plasma cell dyscrasia. Older age and lower N?terminal pro?B?type natriuretic peptide (NT pro?BNP) were factors significantly associated with ATTRwt. Patients aged 70 years and younger with an NT pro?BNP <183 pmol/L were more likely to have ATTRwt, as were patients older than 70 years with an NT pro?BNP <1420 pmol/L. Conclusions Factors at baseline associated with a worse outcome in ATTRwt are positive troponin T, a pacemaker, and NYHA class IV symptoms. The age of the patient at diagnosis and NT pro?BNP level can aid in distinguishing ATTRwt from AL amyloidosis.
Pinney, Jennifer H.; Whelan, Carol J.; Petrie, Aviva; Dungu, Jason; Banypersad, Sanjay M.; Sattianayagam, Prayman; Wechalekar, Ashutosh; Gibbs, Simon D. J.; Venner, Christopher P.; Wassef, Nancy; McCarthy, Carolyn A.; Gilbertson, Janet A.; Rowczenio, Dorota; Hawkins, Philip N.; Gillmore, Julian D.; Lachmann, Helen J.
Neurodegenerative �overlap� syndrome: Clinical and pathological features of Parkinson's disease, motor neuron disease, and Alzheimer's disease
Parkinson's disease (PD), Alzheimer's disease (AD), and motor neuron disease (MND) share epidemiological, clinical, and pathological features. Few studies have reported comprehensively on individuals who demonstrate a neurodegenerative �overlap� syndrome, comprising idiopathic parkinsonism, dementia, and motor neuron dysfunction. We describe clinical, electrophysiological, and pathological features in six patients with neurodegenerative �overlap� syndrome. All had cardinal features of PD (duration 6�26
Ryan J. Uitti; Kenneth Berry; Osamu Yasuhara; Andrew Eisen; Howard Feldman; Patrick L. McGeer; Donald B. Calne
Clinical features and risk factors of patients with fatty liver in Guangzhou area
AIM: There is still no accepted conclusion regarding the clinical features and related risk factors of patients with fatty liver. The large-scale clinical studies have not carried out yet in Guangzhou area. The aim of the present study was to investigate the clinical features and related risk factors of patients with fatty liver in Guangzhou area. METHODS: A total of
Qi-Kui Chen; Hai-Ying Chen; Kai-Hong Huang; Ying-Qiang Zhong; Ji-Ao Han; Zhao-Hua Zhu; Xiao-Dong Zhou
Pseudohypoaldosteronism type 1: clinical features and management in infancy
Summary Type 1 pseudohypoaldosteronism (PHA) is a rare heterogeneous group of disorders characterised by resistance to aldosterone action. There is resultant salt wasting in the neonatal period, with hyperkalaemia and metabolic acidosis. Only after results confirm isolated resistance to aldosterone can the diagnosis of type 1 PHA be confidently made. Type 1 PHA can be further classified into i) renal type 1 (autosomal dominant (AD)) and ii) multiple target organ defect/systemic type 1 (autosomal recessive (AR)). The aim of this case series was to characterise the mode of presentation, management and short-term clinical outcomes of patients with PHA type 1. Case notes of newly diagnosed infants presenting with PHA type 1 were reviewed over a 5-year time period. Seven patients were diagnosed with PHA type 1. Initial presentation ranged from 4 to 28 days of age. Six had weight loss as a presenting feature. All subjects had hyperkalaemia, hyponatraemia, with elevated renin and aldosterone levels. Five patients have renal PHA type 1 and two patients have systemic PHA type, of whom one has had genetic testing to confirm the AR gene mutation on the SCNN1A gene. Renal PHA type 1 responds well to salt supplementation, whereas management of patients with systemic PHA type 1 proves more difficult as they are likely to get frequent episodes of electrolyte imbalance requiring urgent correction. Learning points Patients with type 1 PHA are likely to present in the neonatal period with hyponatraemia, hyperkalaemia and metabolic acidosis and can be diagnosed by the significantly elevated plasma renin activity and aldosterone levels.The differential diagnosis of type 1 PHA includes adrenal disorders such as adrenal hypoplasia and congenital adrenal hyperplasia; thus, adrenal function including cortisol levels, 17-hydroxyprogesterone and a urinary steroid profile are required. Secondary (transient) causes of PHA may be due to urinary tract infections or renal anomalies; thus, urine culture and renal ultrasound scan are required respectively.A differentiation between renal and systemic PHA type 1 may be made based on sodium requirements, ease of management of electrolyte imbalance, sweat test results and genetic testing.Management of renal PHA type 1 is with sodium supplementation, and requirements often decrease with age.Systemic PHA type 1 requires aggressive and intensive fluid and electrolyte management. Securing an enteral feeding route and i.v. access are essential to facilitate ongoing therapy.In this area of the UK, the incidence of AD PHA and AR PHA was calculated to be 1:66?000 and 1:166?000 respectively.
Amin, N; Alvi, N S; Barth, J H; Field, H P; Finlay, E; Tyerman, K; Frazer, S; Savill, G; Wright, N P; Makaya, T; Mushtaq, T
Newly Described Clinical and Immunopathological Feature of Dermatitis Herpetiformis
Dermatitis herpetiformis (DH) is an inflammatory cutaneous disease with typical histopathological and immunopathological findings clinically characterized by intensely pruritic polymorphic lesions with a chronic-relapsing course. In addition to classic clinical manifestations of DH, atypical variants are more and more frequently reported and histological and immunological are added to them, whereas the impact on quality of life of patients with DH is increasingly important to a certain diagnosis. The aim of this paper is to describe all the possible clinical, histological, and immunological variants of DH in order to facilitate the diagnosis of a rare disease and, therefore, little known.
Bonciolini, Veronica; Bonciani, Diletta; Verdelli, Alice; D'Errico, Antonietta; Antiga, Emiliano; Fabbri, Paolo; Caproni, Marzia
Clinical and serological features of patients with suspected Lyme borreliosis.
Serology is currently the method of choice for the laboratory diagnosis of Lyme Borreliosis, but it must be interpreted with caution. A total of 954 patients with suspected Lyme borreliosis were evaluated on the basis of clinical and serological data. The seroprevalence of Borrelia burgdorferi antibodies was 4.4% (42 of the 954 serum samples). The most frequent clinical manifestation was erythema migrans which occurred in 50% of the seropositive patients, followed by neuroborreliosis (16.6%) and arthritis (11.9%). Carditis was rare. Our findings suggest that for the diagnosis of Lyme borreliosis, serologic tests need to be combined with clinical signs and symptoms. PMID:21978712
Santino, Iolanda; Longobardi, V
Clinical Features and Genetic Analysis of Fascioscapulohumeral Muscular Dystrophy
c , Goyang, Korea Background: Facioscapulohumeral muscular dystrophy (FSHD) is associated wi th contractions of the polymorphic D4Z4-repeat array in 4q35 and has the distinctive clinical presentation of an initial involvement of the facial, shoulder-girdle, and upper-arm muscles. The aim of the present study was to determine clinical characteristics in Korean patients with FSHD and potential relationships between c ontracted
Ji-Man Hong; Seung-Min Kim; Il-Nam Sunwoo; Kwon-Duk Seo; Dong-Suk Shim; Bum-Chun Suh; Dae-Seong Kim; Jeong-Hee Cho; Young-Chul Choi
Homogentisic acid is the product of MelA, which mediates melanogenesis in the marine bacterium Shewanella colwelliana D.
Shewanella colwelliana D is a marine procaryote which produces a diffusible brown pigment that correlates with melA gene expression. Previously, melA had been cloned, sequenced, and expressed in Escherichia coli; however, the reaction product of MelA had not been identified. This report identifies that product as homogentisic acid, provides evidence that the pigment is homogentisic acid-melanin (pyomelanin), and suggests that MelA is p-hydroxyphenylpyruvate hydroxylase. This is the first report of pyomelanin in an obligate marine bacterium.
Coon, S L; Kotob, S; Jarvis, B B; Wang, S; Fuqua, W C; Weiner, R M
[Phenotypes in ALS--clinical features and pathology].
Typical amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND) is not hard to diagnose, but when it comes to atypical forms of MND which account for about 20% in clinical setting, we may face some difficulties in differentiating clearly between atypical forms of ALS/MND and other non-ALS diseases, such as multifocal motor neuropathy, chronic inflammatory demyelinating polyneuropathy and cervical spondylosis. There is striking phenotypic variation in sporadic ALS/MND, i.e. flail arm syndrome (brachial amyotrophic diplegia), pseudopolyneuritic form, hemiplegic type, ALS/MND with markedly extended involvement beyond the motor system, MND with basophilic inclusion bodies, spinal progressive muscular atrophy, primary lateral sclerosis, progressive bulbar palsy and motor neuron disease with dementia. These variations must be recognized when physicians are to tailor advice on disease progression, prognosis, drug therapy, and care to the needs of the individual. Clinical trials of new therapeutic agents have been performed, on the assumption that patients with ALS/MND have the same underlying etiology, addressing the heterogeneous population of the patients under a single diagnostic category. This can be detrimental to the well-being of the individual, because clinical heterogeneity may mask drug effects in clinical trials. The attempt to categorize subgroups based on the clinical and pathological background within the spectrum of ALS/MND may be a critical step in facilitating clinical research in ALS/MND. Definition of clinicopathologic syndromes in patients with ALS/MND is an important challenging task. It will be necessary to accumulate motor neuron disease cases with phenotypic variation and analyze them clinically and pathologically to elucidate whether various kinds of subgroups of motor neuron diseases lie on the same spectrum of ALS. PMID:17969341
Sasaki, Shoichi
Spectral Identification and Analyses of Hydrous Mineral Deposits: Implications for the Aqueous History of Aram Chaos and Melas Chasma, Mars
NASA Astrophysics Data System (ADS)
Orbital remote sensing data acquired from the Mars Express OMEGA and MRO CRISM instruments, in conjunction with other datasets, are used to perform detailed spectral and stratigraphic analyses with the goals of better understanding the mineralogy and aqueous history of deposits in Aram Chaos and south and southwest Melas Chasma on Mars. The Discrete Ordinate Radiative Transfer (DISORT) model is used to retrieve atmospherically and thermally corrected Lambert albedos from OMEGA I/F data for Aram Chaos and atmospherically corrected single scattering albedos from CRISM I/F data for Melas Chasma. Spectral analyses focus on detection, identification, and mapping of hydrated and/or hydroxylated alteration minerals in the visible-near to thermal infrared region (0.4-4.0 mum) for Aram Chaos and near infrared region (1.0-2.5 mum) for Melas Chasma. In Aram Chaos, based on detailed reduction of OMEGA spectral data, focusing on use of DISORT-based radiative transfer procedures to model solar reflected and thermally-dominating spectral regions, together with stability and formation pathway considerations, we conclude that the spectral features in Aram Chaos are dominated by the presence of nanophase iron oxides, schwertmannite, and starkeyite. This mineral assemblage, together with gray, crystalline hematite previously detected from TES data [Glotch and Christensen, 2005], indicate that Aram Chaos has experienced iron oxidation and evaporation of iron-, magnesium-, and sulfur-rich fluids during periods of rising groundwater. In the southern wall and nearby floor of Melas Chasma, a sequence of interbedded poly- and monohydrated sulfate layers associated with the interior layered deposits (ILDs) was identified using the data from CRISM and HiRISE imageries. The interbedded layers could have formed by a cyclic deposition of poly- and monohydrated sulfates during evaporation depending on brine salinity and variable water-to-rock ratios. A distinct jarosite-bearing unit was also identified in the topographically higher units near the hydrated sulfate deposits. The study area has apparently been through a period of acidic conditions resulting from an increase of volcanic volatile release or redox processes during episodes of groundwater upwelling, during which jarosite has formed by the evaporation of acid fluids that have altered basaltic materials, or through iron oxidation of subsurface fluids and subsequent precipitation. To the southwest portion of Melas Chasma basin, hydrated sulfates and Fe/Mg smectites were both identified using CRISM hyperspectral data. Specifically the hydrated sulfate and Fe/Mg smectite deposits are interbedded and deposited at the bottom of the stratigraphic column, unconformably overlaid by a thick monohydrated sulfate unit. Geochemical modeling of coupled basalt weathering and fluid evaporation predicts that co-formation of smectites and sulfate evaporites in similar quantities, as observed in the interbedded smectite-sulfate sequence, is chemically plausible. The interbedded hydrated sulfate and Fe/Mg smetite deposits formed by the processes of repeated mechanical transportation of clastics by fluvial events, alteration by upwelling groundwater, and evaporation of the residual fluids.
Liu, Yang
Clinical features, pathogenesis and treatment of juvenile and adult dermatomyositis
Juvenile and adult dermatomyositis (DM) have multiple commonalities, yet display differing prevalence of features, outcomes and comorbidities. In general, compared with the disease in adults, children with DM have more vasculopathy and a greater likelihood of calcinosis, periungual and gingival telangiectasias, and ulceration, but have a better long-term prognosis with improved survival. Adults with DM are more likely to have
Angela B. Robinson; Ann M. Reed
Early-Onset Psychoses: Comparison of Clinical Features and Adult Outcome in 3 Diagnostic Groups
ERIC Educational Resources Information Center
A comparison of clinical features and adult outcome in adolescents with three types of psychotic disorders: schizophrenic (SPh), schizoaffective (SA) and bipolar with psychotic features (BPP). Subjects (n = 41) were finally diagnosed (DSM-IV criteria) with SPh (n = 17), SA (n = 11) or BPP (n = 13). Clinical evaluation took place at onset and at a�
Ledda, Maria Giuseppina; Fratta, Anna Lisa; Pintor, Manuela; Zuddas, Alessandro; Cianchetti, Carlo
What constitutes clinically significant binge eating? Association between binge features and clinical validators in college-age women�
Objective To investigate the association between binge features and clinical validators. Method The Eating Disorder Examination assessed binge features in a sample of 549 college-age women: loss of control (LOC) presence, binge frequency, binge size, indicators of impaired control, and LOC severity. Clinical validators were self-reported clinical impairment and current psychiatric comorbidity, as determined via a semistructured interview. Results Compared with women without LOC, those with LOC had significantly greater odds of reporting clinical impairment and comorbidity (ps < 0.001). Among women with LOC (n = 252), the indicators of impaired control and LOC severity, but not binge size or frequency, were associated with greater odds of reporting clinical impairment and/or comorbidity (ps < 0.05). Discussion Findings confirm that the presence of LOC may be the hallmark feature of binge eating. Further, dimensional ratings about the LOC experience�and possibly the indicators of impaired control�may improve reliable identification of clinically significant binge eating.
Vannucci, Anna; Theim, Kelly R.; Kass, Andrea E.; Trockel, Mickey; Genkin, Brooke; Rizk, Marianne; Weisman, Hannah; Bailey, Jakki O.; Sinton, Meghan M.; Aspen, Vandana; Wilfley, Denise E.; Taylor, C. Barr
Streptococcal necrotising fasciitis: comparison between histological and clinical features
Nineteen acute and 17 subacute cases of necrotising fasciitis due to beta haemolytic streptococci are described. Excised tissue from seven and four cases, respectively, was available for histological examination. The two clinical types showed remarkable similarities, with inflammation and necrosis from epidermis to subcutaneous fat. Haemorrhage was present in variable amounts in both types. Gram positive cocci were not always
F G Barker; B J Leppard; D V Seal
Acute exacerbation of idiopathic pulmonary fibrosis: frequency and clinical features
Although acute exacerbations of idiopathic pulmonary fibrosis are well recognised, there are no studies documenting their prevalence or identifying pre-existing risk factors. This study analysed the clinical, radiological and pathological data of 11 patients who satisfied the criteria for acute exacerbation among 147 patients with biopsy-proven idiopathic pulmonary fibrosis. There were five additional patients who had similar demographics, radiology and
D. S. Kim; J. H. Park; B. K. Park; J. S. Lee; A. G. Nicholson; T. Colby
Key Clinical Features to Identify Girls with "CDKL5" Mutations
ERIC Educational Resources Information Center
Mutations in the human X-linked cyclin-dependent kinase-like 5 ("CDKL5") gene have been shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, less than 25 different mutations have been reported. So far, there are still little data on the key clinical diagnosis criteria and on the natural history of�
Bahi-Buisson, Nadia; Nectoux, Juliette; Rosas-Vargas, Haydee; Milh, Mathieu; Boddaert, Nathalie; Girard, Benoit; Cances, Claude; Ville, Dorothee; Afenjar, Alexandra; Rio, Marlene; Heron, Delphine; Morel, Marie Ange N'Guyen; Arzimanoglou, Alexis; Philippe, Christophe; Jonveaux, Philippe; Chelly, Jamel; Bienvenu, Thierry
Congenital melanocytic nevi: clinical and histopathologic features, risk of melanoma, and clinical management.
Congenital melanocytic nevi occur in approximately 1% of newborns and are usually classified according to their size. Giant congenital melanocytic nevi are most simply defined as melanocytic nevi that are greater than 20 cm in largest dimension; whereas small congenital nevi are defined as melanocytic nevi less that 1.5 cm in largest dimension. Congenital nevi can exhibit distinctive histologic features that can help in differentiating them from common acquired nevi. Giant congenital melanocytic nevi are associated with an increased risk of the development of melanoma. On the other hand, there is evidence of an increased melanoma risk in patients with small congenital nevi. Nevertheless, the risk of malignant transformation in small congenital nevi and the lifetime melanoma risk in patients with small congenital nevi remain controversial. In large part due to inconsistency in the reported literature describing patients with congenital melanocytic nevi, the risk of melanoma in these patients remains unclear and consistent guidelines for clinical management do not exist. We review the literature and comment on the course of management for these patients at the Massachusetts General Hospital Pigmented Lesion Clinic. PMID:15692463
Tannous, Zeina S; Mihm, Martin C; Sober, Arthur J; Duncan, Lyn M
Clinical and laboratory features of viral hepatitis A in children.
Recent outbreaks of viral hepatitis A in non-endemic European countries and the potential outbreak risk in susceptible populations has led us to evaluate the clinical characteristics of children hospitalised with hepatitis A. Retrospective study included 118 children (68 boys and 50 girls) with the mean age of 8.5 years hospitalised at Hospital Na Bulovce in Prague from June 2008 to June 2009. The clinical course was symptomatic icteric in 57 (48.3 %) children, symptomatic anicteric in 23 (19.5 %), subclinical in 22 (18.6 %) and asymptomatic inapparent in 16 (13.6 %). The relapse of the disease occurred in three patients. There were no cases of fulminant hepatitis. The most frequent symptoms included jaundice (57 cases), abdominal pain/discomfort (38), vomiting (38), dark urine (37), subfebrility (29) and fever (25). Hepatic injury markers were substantially elevated in icteric patients, but moderate elevations were identified in anicteric and subclinical cases as well. Lower white blood cell and lymphocyte counts were independently associated with symptomatic and more severe clinical course. Active immunisation was provided to 22 patients, and as a post-exposure prophylaxis to 19 of them. The clinical course and laboratory parameters in vaccinated children were not significantly different from non-vaccinated children. The clinical course of hepatitis A was largely self-limiting and benign. Asymptomatic infections are frequent, representing risk for disease spread; however, they are associated with elevations of hepatic injury markers. The inclusion of significant proportion of asymptomatic cases that were identified and investigated only because of active epidemiological surveillance in the outbreak focus represents the particular asset of this study. PMID:23358879
Blechov�, Zuzana; Troj�nek, Milan; Kyn?l, Jan; C�stkov�, Jitka; John, Jerry; Mal�, Marek; Herrmannov�, Krist�na; Mare�ov�, Vilma
Clinical features and multidisciplinary approaches to dementia care
Dementia is a clinical syndrome of widespread progressive deterioration of cognitive abilities and normal daily functioning. These cognitive and behavioral impairments pose considerable challenges to individuals with dementia, along with their family members and caregivers. Four primary dementia classifications have been defined according to clinical and research criteria: 1) Alzheimer�s disease; 2) vascular dementias; 3) frontotemporal dementias; and 4) dementia with Lewy bodies/Parkinson�s disease dementia. The cumulative efforts of multidisciplinary healthcare teams have advanced our understanding of dementia beyond basic descriptions, towards a more complete elucidation of risk factors, clinical symptoms, and neuropathological correlates. The characterization of disease subtypes has facilitated targeted management strategies, advanced treatments, and symptomatic care for individuals affected by dementia. This review briefly summarizes the current state of knowledge and directions of dementia research and clinical practice. We provide a description of the risk factors, clinical presentation, and differential diagnosis of dementia. A summary of multidisciplinary team approaches to dementia care is outlined, including management strategies for the treatment of cognitive impairments, functional deficits, and behavioral and psychological symptoms of dementia. The needs of individuals with dementia are extensive, often requiring care beyond traditional bounds of medical practice, including pharmacologic and non-pharmacologic management interventions. Finally, advanced research on the early prodromal phase of dementia is reviewed, with a focus on change-point models, trajectories of cognitive change, and threshold models of pathological burden. Future research goals are outlined, with a call to action for social policy initiatives that promote preventive lifestyle behaviors, and healthcare programs that will support the growing number of individuals affected by dementia.
Grand, Jacob HG; Caspar, Sienna; MacDonald, Stuart WS
A systematic heuristic approach for feature selection for melanoma discrimination using clinical images
Background Numerous features are derived from the asymmetry, border irregularity, color variegation, and diameter of the skin lesion of dermatology for diagnosing malignant melanoma. Feature selection for the development of automated skin lesion discrimination systems is an important consideration. Methods In this research, a systematic heuristic approach is investigated for feature selection and lesion classification. The approach integrates statistical-, correlation-, histogram-, and expert system-based components. Using statistical and correlation measures, interrelationships among features are determined. Expert system analysis is performed to identify redundant features. The feature selection process is applied to 19 shape and color features for a clinical image data set containing 355 malignant melanomas, 125 basal cell carcinomas, 177 dysplastic nevi, 199 nevocellular nevi, 139 seborrheic keratoses, and 45 vascular lesions. Results Experimental results show reduced lesion classification error rates based on condensing the shape and color feature set from 19 features to 13 features using the feature selection process. Specifically, average test lesion classification error rates for discriminating malignant melanoma from non-melanoma lesions were reduced from 26.6% for 19 features to 23.2% for 13 features over five randomly generated training and test sets. Conclusions The experimental results show that the systematic heuristic approach for feature reduction can be successfully applied to achieve improved lesion discrimination. The feature reduction technique facilitates the elimination of redundant information that may inhibit lesion classification performance. The clinical application of this result is that automated skin lesion classification algorithm development can be fostered with systematic feature selection techniques.
Chang, Ying; Stanley, R. Joe; Moss, Randy H.; Van Stoecker, William
Induratio penis plastica Peyronie's disease. Clinical features and etiology.
The clinical and laboratory findings in 106 patients with Peyronie's disease as well as histopathological examinations of biopsies from the plaques were studied. The clinical symptoms and signs were in general similar to those found in previous studies, but bone marrow smears showed an increased number of plasma cells and lymphocytes in 18 of 24 examined. Biopsy of the plaque in cases of long-term symptomatology disclosed a fibrosis poor in cellular components. In patients with a short history of the disease and a tender induration, an inflammatory component of the specimens with perivascular accumulation of lymphocytes and balooning of endothelial cells in the small vessels was seen. Characteristic cells with "cross-banded" nuclei, described earlier only in Dupuytren's contracture and experimental fibrosis, was observed for the first time in Peyronie's disease. Based on these findings a combined traumatic-immunological etiology is suggested. PMID:1273527
Bystr�m, J; Rubio, C
Clinical, Biological, and Imaging Features of Monogenic Alzheimer's Disease
The discovery of monogenic forms of Alzheimer's Disease (AD) associated with mutations within PSEN1, PSEN2, and APP genes is giving a big contribution in the understanding of the underpinning mechanisms of this complex disorder. Compared with sporadic form, the phenotype associated with monogenic cases is somewhat broader including behavioural disturbances, epilepsy, myoclonus, and focal presentations. Structural and functional imaging show typical early changes also in presymptomatic monogenic carriers. Amyloid imaging and CSF tau/A? ratio may be useful in the differential diagnosis with other neurodegenerative dementias, especially, in early onset cases. However, to date any specific biomarkers of different monogenic cases have been identified. Thus, in clinical practice, the early identification is often difficult, but the copresence of different elements could help in recognition. This review will focus on the clinical and instrumental markers useful for the very early identification of AD monogenic cases, pivotal in the development, and evaluation of disease-modifying therapy.
Padovani, Alessandro; Borroni, Barbara
[Clinical features of systemic scleroderma with lesions in respiratory organs].
This retrospective study included 64 patients divided into 2 groups. Group 1 was comprised of 34 patients with systemic scleroderma and signs of interstitial lung lesions (X-ray diagnostics), the control group included 30 patients with scleroderma alone. They were examined by general clinical, biochemical and immunological methods, ECG, Echo-CG, capillaroscopy, standard chest X-ray, spirometry, ultrasound studies of internal organs, oesophageal, gastric and duodenal endoscopy. It was shown that systemic scleroderma with signs of interstitial lung lesions is more frequently accompanied by clinical (cough, dyspnea, bilateral inspirational crepitation) and functional (reduced lung vital capacity) pulmonary disorders. Also, these patients have "pursed mouth" appearance, their skeletal muscles and blood circulatory system are involved in the pathological process which accounts for arterial hypertension and mitral valve sclerosis (Echo-CG), reduced hemoglobin level hypergammaglobilinemia, IgA variations, and leukocyturia. PMID:24417064
Petrova, D V; Sho?khet, Ia N; Berestov, S A; Dorokhov, A E
Clinical and Pathologic Features of Familial Interstitial Pneumonia
Rationale: Several lines of evidence suggest that genetic factors and environmental exposures play a role in the development of pulmonary fibrosis. Objectives: We evaluated families with 2 or more cases of idiopathic interstitial pneumonia among first-degree family members (familial interstitial pneumonia, or FIP), and identified 111 families with FIP having 309 affected and 360 unaffected individuals. Methods: The presence of probable or definite FIP was based on medical record review in 28 cases (9.1%); clinical history, diffusing capacity of carbon monoxide (DLCO), and chest X-ray in 16 cases (5.2%); clinical history, DLCO, and high-resolution computed tomography chest scan in 191 cases (61.8%); clinical history and surgical lung biopsy in 56 cases (18.1%); and clinical history and autopsy in 18 cases (5.8%). Results: Older age (68.3 vs. 53.1; p < 0.0001), male sex (55.7 vs. 37.2%; p < 0.0001), and having ever smoked cigarettes (67.3 vs. 34.1%; p < 0.0001) were associated with the development of FIP. After controlling for age and sex, having ever smoked cigarettes remained strongly associated with the development of FIP (odds ratioadj, 3.6; 95% confidence interval, 1.3�9.8). Evidence of aggregation of disease was highly significant (p < 0.001) among sibling pairs, and 20 pedigrees demonstrated vertical transmission, consistent with autosomal dominant inheritance. Forty-five percent of pedigrees demonstrated phenotypic heterogeneity, with some pedigrees demonstrating several subtypes of idiopathic interstitial pneumonia occurring within the same families. Conclusions: These findings suggest that FIP may be caused by an interaction between a specific environmental exposure and a gene (or genes) that predisposes to the development of several subtypes of idiopathic interstitial pneumonia.
Steele, Mark P.; Speer, Marcy C.; Loyd, James E.; Brown, Kevin K.; Herron, Aretha; Slifer, Susan H.; Burch, Lauranell H.; Wahidi, Momen M.; Phillips, John A.; Sporn, Thomas A.; McAdams, H. Page; Schwarz, Marvin I.; Schwartz, David A.
Multiple sclerosis: clinical features and MRI findings in Northern China
Background Reports in Asian populations suggest that ethnic and geographical differences may influence susceptibility to multiple sclerosis (MS) and its clinical behaviors. Here, we sought to retrospectively survey clinical characteristics and MRI data in Chinese subjects with MS. Methods We conducted a retrospective analysis in 117 patients with MS. The patients were divided into subgroups with optic-spinal form of multiple sclerosis (OSMS; n?=?42) and classical multiple sclerosis (CMS; n?=?75). Clinical characteristics, MRI finding and expanded disability status scale (EDSS) score were compared between the two groups. Results In 117 MS patients, 64.1% patients were classified as having CMS and 35.9% OSMS forms. White blood cell counts of OSMS patients were significantly higher than those of CMS patients (P <0.05). The longitudinal fusion lesions of spinal cord on MRI were statistically significant between groups (P <0.05). Spinal cord MRI showed that MS lesions were longer, and revealed spinal cord swelling in patients with CMS, but atrophy in patients with OSMS. The EDSS score at five years was significantly higher in patients with OSMS than in those with CMS (P <0.05). Relapse rates of patients with OSMS were also higher than those of patients with CMS (P <0.01) within one to three years. Conclusions OSMS accounts for a higher proportion of MS populations in Northern China than in Western countries. MRI showed a longitudinally extensive spinal cord lesion in patients with OSMS and spinal cord swelling at onset.
Prevalence and clinical features of multiple sclerosis in Latin America.
Multiple sclerosis (MS) in Latin America (LA) is considered to have a low to medium prevalence. However, accurate information on MS in LA is scarce. The aim of this study was to compare clinical characteristics among LA patients through a systematic review of the literature. A systematic search (Spanish, Portuguese and English) was done for all clinical studies of MS in humans (MEDLINE, PubMed, Scielo, BIREME, EMBASE and LILACS) up to May 2011 being focused on a well-defined Latin American population (peer-reviewed journal) following the MOOSE guidelines. The search strategy included combinations of different Mesh terms (two independent researchers). Classification of each article by using the Oxford Centre for Evidence-based Medicine - Levels of Evidence was done. The total number of patients per country for each specific characteristic was compiled. Chi-square test was used to compare the characteristics in the studies retrieved per country. There were 38 articles fulfilling the inclusion criteria, accounting for 4524 patients. Relapsing-remitting form was the most frequent in LA patients and the main initial symptom was motor, followed by optic neuritis and sensorial. A mild expanded disability status scale was the most prevalent in all LA countries. Factors accounting for differences in distribution and clinical course across LA countries include genetics, environment, diagnostic techniques, socioeconomic structure and medical facilities. PMID:23273381
Ojeda, Ernesto; D�az-Cortes, Diana; Rosales, Dominique; Duarte-Rey, Carolina; Anaya, Juan-Manuel; Rojas-Villarraga, Adriana
Geographic atrophy: clinical features and potential therapeutic approaches.
In contrast to wet age-related macular degeneration (AMD), where loss of vision is typically acute and treatment leads to a relatively rapid reduction in retinal fluid and subsequent improvements in visual acuity (VA), disease progression and vision loss in geographic atrophy (GA) owing to AMD are gradual processes. Although GA can result in significant visual function deficits in reading, night vision, and dark adaptation, and produce dense, irreversible scotomas in the visual field, the initial decline in VA may be relatively minor if the fovea is spared. Because best-corrected VA does not correlate well with GA lesions or progression, alternative clinical endpoints are being sought. These include reduction in drusen burden, slowing the enlargement rate of GA lesion area, and slowing or eliminating the progression of intermediate to advanced AMD. Among these considerations, slowing the expansion of the GA lesion area seems to be a clinically suitable primary efficacy endpoint. Because GA lesion growth is characterized by loss of photoreceptors, it is considered a surrogate endpoint for vision loss. Detection of GA can be achieved with a number of different imaging techniques, including color fundus photography, fluorescein angiography, fundus autofluorescence (FAF), near-infrared reflectance, and spectral-domain optical coherence tomography. Previous studies have identified predictive characteristics for progression rates including abnormal patterns of FAF in the perilesional retina. Although there is currently no approved or effective treatment to prevent the onset and progression of GA, potential therapies are being evaluated in clinical studies. PMID:24433969
Holz, Frank G; Strauss, Erich C; Schmitz-Valckenberg, Steffen; van Lookeren Campagne, Menno
Spontaneous Primary Intraventricular Hemorrhage: Clinical Features and Early Outcome
Purpose. Primary hemorrhage in the ventricular system without a recognizable parenchymal component is very rare. This single-center retrospective study aimed to further characterize the clinical characteristics and early outcome of this stroke subtype. Methods. All patients with primary intraventricular hemorrhage included in a prospective hospital-based stroke registry over a 19-year period were assessed. A standardized protocol with 161 items, including demographics, risk factors, clinical data, neuroimaging findings, and outcome, was used for data collection. A comparison was made between the groups of primary intraventricular hemorrhage and subcortical intracerebral hemorrhage. Predictors of primary intraventricular hemorrhage were identified by logistic regression analysis. Results. There were 12 patients with primary intraventricular hemorrhage (0.31% of all cases of stroke included in the database) and 133 in the cohort of subcortical hemorrhage. Very old age (?85 years) (odds ratio (OR) 9.89), atrial fibrillation (OR 8.92), headache (OR 6.89), and altered consciousness (OR 4.36) were independent predictors of intraventricular hemorrhage. The overall in-hospital mortality rate was 41.7% (5/12) but increased to 60% (3/5) in patients aged 85 years or older. Conclusion. Although primary intraventricular hemorrhage is uncommon, it is a severe clinical condition with a high early mortality. The prognosis is particularly poor in very old patients.
Arboix, Adria; Garcia-Eroles, Luis; Vicens, Adela; Oliveres, Montserrat; Massons, Joan
Clinical and epidemiological features of adenovirus keratoconjunctivitis in London.
Ninety-eight patients were studied. Ninety were consecutive patients who were isolation-positive for adenovirus, and 8, who were associated with a hospital outbreak of adenovirus serotype 8 infection, developed characteristic features of infection but were isolation-negative. The ratio of males to females was 2 to 1, and most patients were aged 20 to 39. Adenovirus serotypes 3, 7, and 8 were isolated from 86% of patients, and serotypes 2, 4, 5, 11, 15, and 15/29 from the remaining 14%. Adenovirus serotype 7 was more commonly isolated from patients under the age of 19 and was Not isolated during winter. Sources of infection could be identified in 36% of patients and included contact with upper respiratory tract of ocular infections, a hospital outbreak, and a recent visit to a swimming pool. Associated systemic disease was detected in 47% of patients, most of whom had upper respiratory tract infection. The most severe and prolonged conjunctivitis was caused by serotypes 5 and 8. Most patients developed epithelial punctate keratitis. Subepithelial punctate keratitis, which was once-considered to be a characteristic feature of adenovirus serotype 8, developed in cases of serotype 3, 4, 5, 7, and 8 infection. PMID:6293533
Darougar, S; Grey, R H; Thaker, U; McSwiggan, D A
Selecting a Selective Serotonin Reuptake Inhibitor: Clinically Important Distinguishing Features
Selective serotonin reuptake inhibitors (SSRIs) are widely prescribed to treat depression. Although these drugs presumably have the same mechanism of action, they vary in several clinically important ways, including how long they remain in the body and the extent to which they interfere with the metabolism of other medications. This article reviews the pharmacologic differences among SSRIs and how these differences may affect various aspects of treatment, such as dosing, administration, and discontinuation. Understanding the distinct properties of SSRIs may help primary care physicians to design the most appropriate therapeutic plan for individual patients.
Marken, Patricia A.; Munro, J. Stuart
[Immediate drug hypersensitivity : Epidemiology, clinical features, triggers and management].
Drug hypersensitivity reactions affect more than seven percent of the population and are a concern for patients and doctors alike. In a substantial part of such reactions, IgE-mediated mechanisms have been documented. Clinical manifestations of immediate reactions, which occur directly after drug intake (mostly ??1�h), are acute urticaria, angioedema, dyspnea and other symptoms of anaphylaxis in the skin, gastrointestinal tract, respiratory tract or cardiovascular system. Although normally leading to milder reactions, drugs are also the most frequent elicitors of fatal anaphylaxis. The median time interval between systemic drug application and clinical death is 5�min. The most common elicitors of immediate reactions are analgesics, antibiotics, radiocontrast media and muscle relaxants. The aim of history and experience guided skin tests � laboratory tests is to document a sensitization, which depends on the eliciting drug and is only successful in less than half of the patients. Else a drug provocation test under controlled conditions is necessary to clarify the diagnosis and to confirm or exclude a drug hypersensitivity reaction. Therapy consists in drug avoidance or in pressing indications in tolerance induction by a "drug desensitization". PMID:24820798
Brockow, K
Clinical features, polysomnography and outcome in patients with hypnic headache.
Hypnic headache is rarely reported in Asians, and the proposed International Classification of Headache Disorders (ICHD)-2 criteria have never been field-tested. We studied 17 consecutive Taiwanese patients (M/F: 9/8, mean age at onset 69.6 years) with hypnic headache from a headache clinic. Fifteen patients (88%) reported >15 headache attack days per month. Polysomnography studies done on 11 patients recorded 12 attacks in seven patients: two during rapid eye movement (REM) sleep, three during non-REM sleep and two having both. Five of the seven patients reported their headache profile during polysomnography studies. The clinical course was mostly episodic without recurrence (n = 9, 53%), followed by relapsing/remitting (n = 5) and chronic (n = 3). The ICHD-2 criteria were not fulfilled in 35% (6/17) patients based on patient recall or 60% (3/5) patients based on direct questioning during polysomnography studies. The major reason was the presence of pulsatile rather than dull headache in our patients. Unlike previous studies, our study showed hypnic headache occurred equally in both REM and non-REM sleep, and most patients ran an episodic course. PMID:18254891
Liang, J-F; Fuh, J-L; Yu, H-Y; Hsu, C-Y; Wang, S-J
Microscopic Enteritis; clinical features and correlations with symptoms
Aim To assess the clinical characteristic of CD as well as correlation of symptoms and the degrees of intestinal mucosal lesions in Iranian children. Background Microscopic Enteritis (Marsh 0-II) is associated with malabsorption. Patients and methods From August 2005 to September 2009, 111 cases with malabsorption and classical gastrointestinal symptoms were evaluated. Results The mean (�SD) age of children with CD was 4.9�3.5 years (range, 6 month - 16 years) and the mean duration of symptoms was 8 � 20.5 months. 50 cases (45%) were female and 61 cases (55%) were male. The most common clinical presentation was failure to thrive in 72%, chronic diarrhea in 65.8% and Iron deficiency anemia in 59.5%. Sensitivity of EMA was 100% in patients with Marsh IIIb and Marsh IIIc. EMA was also positive in 77% of cases with Marsh 0, 18% in Marsh I, 44% in Marsh II and 81.8% in patients with Marsh IIIa. Conclusion Histopathology did not reflect the severity of gluten sensitivity. This would suggest that the degree of intestinal mucosal damage might not be a reliable prognostic factor. Significant symptoms can be present with minor histological change on biopsy.
Shahraki, Touran; Shahraki, Mansour; Bold, Justine; Danciu, Mihai; Al Dulaimi, David; Villanacci, Vincenzo; Bassotti, Gabrio
[Alopecia and hypotrichosis in childhood: clinical features and diagnosis].
The monogenic inherited isolated alopecias comprise a group of clinically and genetically heterogeneous disorders with decreased or absent hair. Clinical classification of the isolated alopecias is based upon the onset of the disorder, the regions affected, and the structure of the hair shaft. Men and women are equally affected, and the mode of inheritance is autosomal dominant or autosomal recessive. Therapy does not exist for these rare forms of alopecia. However, molecular genetic diagnosis is possible for the identification of the genetic causes and for the specification of the recurrence risk. Since the identification of the keratin gene KRT86 as a cause of the so called monilethrix in 1997, mutations in eleven other genes have been identified for various isolated alopecias. These include other keratin genes for monilethrix, the HR gene for atrichia congenita, the genes CDSN, APCDD1 and SNRPE for the autosomal dominant form of hypotrichosis simplex, and the genes DSG4, LIPH and LPAR6 for the autosomal recessive forms of hypotrichosis as well as U2HR for hypotrichosis type Marie Unna. Molecular genetic and pathophysiological studies of these rare disorders of hair development have significantly contributed to our understanding of the basic mechanisms of hair loss as well as the physiological mechanisms of hair growth. PMID:24898506
Betz, R C
Vulvovaginitis: clinical features, aetiology, and microbiology of the genital tract
AIM�To clarify the contribution of clinical and environmental factors and infection to the aetiology of vulvovaginitis in premenarchal girls, and to determine clinical indicators of an infectious cause.?DESIGN�It was necessary first to define normal vaginal flora. Cases were 50 premenarchal girls > 2 years old with symptoms of vulvovaginitis; 50 controls were recruited from girls in the same age group undergoing minor or elective surgery.?RESULTS�Interview questionnaire showed no difference between cases and controls in regards to hygiene practices, exposure to specific irritants, or history of possible sexual abuse. Normal vaginal flora was similar to that described in previous studies, with the exception of organisms likely to be associated with sexual activity. 80% of cases had no evidence of an infectious cause. In the 10 cases in whom an infectious cause was found, there was significantly more visible discharge and distinct redness of the genital area on examination compared with other cases.?CONCLUSIONS� The findings suggest that vulvovaginitis in this age group is not usually infectious or necessarily related to poor hygiene, specific irritants or sexual abuse, although any of these can present with genital irritation. The possibility of sexual abuse should always be considered when a child presents with genital symptoms, but our data indicate it is not a common contributing factor. Infection is generally associated with vaginal discharge and moderate or severe inflammation.??
Jaquiery, A; Stylianopoulos, A; Hogg, G; Grover, S
Clinical feasibility of rapid confocal melanoma feature detection
NASA Astrophysics Data System (ADS)
In vivo reflectance confocal microscopy shows promise for the early detection of malignant melanoma. One diagnostic trait of malignancy is the presence of pagetoid melanocytes in the epidermis. For automated detection of MM, this feature must be identified quantitatively through software. Beginning with in vivo, noninvasive confocal images from 10 unequivocal MMs and benign nevi, we developed a pattern recognition algorithm that automatically identified pagetoid melanocytes in all four MMs and identified none in five benign nevi. One data set was discarded due to artifacts caused by patient movement. With future work to bring the performance of this pattern recognition technique to the level of the clinicians on difficult lesions, melanoma diagnosis could be brought to primary care facilities and save many lives by improving early diagnosis.
Hennessy, Ricky; Jacques, Steve; Pellacani, Giovanni; Gareau, Daniel
The clinical profile and pathophysiology of atrial fibrillation: relationships among clinical features, epidemiology, and mechanisms.
Atrial fibrillation (AF) is the most common arrhythmia (estimated lifetime risk, 22%-26%). The aim of this article is to review the clinical epidemiological features of AF and to relate them to underlying mechanisms. Long-established risk factors for AF include aging, male sex, hypertension, valve disease, left ventricular dysfunction, obesity, and alcohol consumption. Emerging risk factors include prehypertension, increased pulse pressure, obstructive sleep apnea, high-level physical training, diastolic dysfunction, predisposing gene variants, hypertrophic cardiomyopathy, and congenital heart disease. Potential risk factors are coronary artery disease, kidney disease, systemic inflammation, pericardial fat, and tobacco use. AF has substantial population health consequences, including impaired quality of life, increased hospitalization rates, stroke occurrence, and increased medical costs. The pathophysiology of AF centers around 4 general types of disturbances that promote ectopic firing and reentrant mechanisms, and include the following: (1) ion channel dysfunction, (2) Ca(2+)-handling abnormalities, (3) structural remodeling, and (4) autonomic neural dysregulation. Aging, hypertension, valve disease, heart failure, myocardial infarction, obesity, smoking, diabetes mellitus, thyroid dysfunction, and endurance exercise training all cause structural remodeling. Heart failure and prior atrial infarction also cause Ca(2+)-handling abnormalities that lead to focal ectopic firing via delayed afterdepolarizations/triggered activity. Neural dysregulation is central to atrial arrhythmogenesis associated with endurance exercise training and occlusive coronary artery disease. Monogenic causes of AF typically promote the arrhythmia via ion channel dysfunction, but the mechanisms of the more common polygenic risk factors are still poorly understood and under intense investigation. Better recognition of the clinical epidemiology of AF, as well as an improved appreciation of the underlying mechanisms, is needed to develop improved methods for AF prevention and management. PMID:24763464
Andrade, Jason; Khairy, Paul; Dobrev, Dobromir; Nattel, Stanley
Improving clinical practice using clinical decision support systems: a systematic review of trials to identify features critical to success
Objective To identify features of clinical decision support systems critical for improving clinical practice. Design Systematic review of randomised controlled trials. Data sources Literature searches via Medline, CINAHL, and the Cochrane Controlled Trials Register up to 2003; and searches of reference lists of included studies and relevant reviews. Study selection Studies had to evaluate the ability of decision support systems
Kensaku Kawamoto; Caitlin A Houlihan; E Andrew Balas; David F Lobach
Esophageal Involvement in Scleroderma: Clinical, Endoscopic, and Manometric Features
Aim. To evaluate characteristics of esophageal involvement in scleroderma. Methods. The study was prospective and concerned 194 patients with a definite systemic sclerosis. Gastroesophageal endoscopy and esophageal manometry were performed in all the cases. Results. Symptoms were present in 118 cases (60.8%); they were signs of GERD or dysphagia, respectively, in 94 (48.4%) and 91 patients (46.9%). Reflux esophagitis was found in 73 cases (37.6%); it was mild or moderate in 47 cases (24.2%) and severe or complicated in the remaining cases. Manometry revealed a lower esophageal sphincter incompetence and esophageal motor disorders, respectively, in 118 (60.8%) and 157 cases (80.9%). Presence of these late was not related to age, duration, or skin extension of the disease, but with clinical complaint and/or mucosal damage. Conclusion. Esophageal involvement is frequent during scleroderma. Manometry is the most sensible examination and could be a screening procedure.
Lahcene, M.; Oumnia, N.; Matougui, N.; Boudjella, M.; Tebaibia, A.; Touchene, B.
[Attention deficit syndrome in adults: clinical, psychophysiological features and treatment].
The authors present the results of examination of 34 patients, aged from 18 to 30 years, with attention deficit hyperactivity disorder (ADHD) (ICD-10 item F90.0). The study has shown that inattentive type of ADHD is noted in 50%, combined type in 38.3% and hyperactivity/impulsivity type in 11.7% of patients. Adult patients with ADHD also have a high level of anxiety and asthenic disorders. This study evaluated the efficacy and safety of adaptol in dosage 1500 mg daily during 8 weeks in the treatment of this group of patients. The high efficacy (improvement in 64,7% of cases) and safety of adaptol confirmed by the data of clinical, psychological and neurophysiological studies. PMID:24077549
Chutko, L S; Surushkina, S Iu; Iakovenko, E A; Nikishena, I S; Anisimova, T I
Clinical and molecular features of POLG-related mitochondrial disease.
The inability to replicate mitochondrial genomes (mtDNA) by the mitochondrial DNA polymerase (pol ?) leads to a subset of mitochondrial diseases. Many mutations in POLG, the gene that encodes pol ?, have been associated with mitochondrial diseases such as myocerebrohepatopathy spectrum (MCHS) disorders, Alpers-Huttenlocher syndrome, myoclonic epilepsy myopathy sensory ataxia (MEMSA), ataxia neuropathy spectrum (ANS), and progressive external ophthalmoplegia (PEO). This chapter explores five important topics in POLG-related disease: (1) clinical symptoms that identify and distinguish POLG-related diseases, (2) molecular characterization of defects in polymerase activity by POLG disease variants, (3) the importance of holoenzyme formation in disease presentation, (4) the role of pol ? exonuclease activity and mutagenesis in disease and aging, and (5) novel approaches to therapy and avoidance of toxicity based on primary research in pol ? replication. PMID:23545419
Stumpf, Jeffrey D; Saneto, Russell P; Copeland, William C
Clinical features and differential diagnosis of erosion lesions: systemic etiologies.
An accurate diagnosis is essential for successful treatment, making it critical that dentists recognize the differences among erosion lesions and the numerous etiologies that cause them. Erosion lesions may result from various factors, including intrinsic etiologies. The similarities among the intrinsic types of lesions and those caused by noncarious destructive mechanisms in the oral cavity may lead to conflict over their etiologies; as a result, these lesions may be ignored, undiagnosed, or misdiagnosed. This article identifies the many systemic etiologies that propel stomach acid into the oral cavity, thereby causing dental erosion. Specific descriptions of the clinical characteristics of dental erosion lesions associated with the identified etiologies are provided and the differential diagnoses are outlined. PMID:20478805
Bassiouny, Mohamed A
Anatomical features and clinical relevance of a persistent trigeminal artery
Background: Although persistent trigeminal artery (PTA) is uncommonly identified, knowledge of this structure is essential for clinicians who interpret cranial imaging, perform invasive studies of the cerebral vasculature, and operate this region. Methods: A review of the medical literature using standard search engines was performed to locate articles regarding the PTA, with special attention with anatomical descriptions. Results: Although anatomical reports of PTA anatomy are very scarce, those were analyzed to describe in detail the current knowledge about its anatomical relationships and variants. Additionally, the embryology, classification, clinical implications, and imaging modalities of this vessel are extensively discussed. Conclusions: Through a comprehensive review of isolated reports of the PTA, the clinician can better understand and treat patients with such an anatomical derailment.
Alcala-Cerra, Gabriel; Tubbs, R S; Nino-Hernandez, Lucia M
[Clinical features of tetanus: a review with case reports].
Tetanus is a CNS disorder characterized by muscle spasms that is caused by the exotoxin of an anaerobic bacterium, Clostridium tetani. This disease is killing tens of thousands of neonates in developing countries. Although the incidence and mortality of tetanus has dramatically dropped in developed countries due to effective vaccination, appropriate wound management, and recent advances in intensive care, treatments remain difficult. From among developed countries, Japan has had a relatively high incidence of tetanus, and prevention is the problem especially in the elderly. We analyzed the data from 12 patients admitted to our hospital during 1997-2010. Their age ranged from 50-82 years; median 72 years with male to female ratio 5: 7, and all patients lacked a reliable history of toxoid immunization. Five patients out of 12 had history of cancer and one each had diabetes mellitus, pulmonary emphysema and Sjogren syndrome. In some cases, the patients had been initially misdiagnosed with ENT disorders, dental problems, or psychosis. Therefore to date, observation of clinical symptoms such as difficulty in mouth opening is considered the most crucial for diagnosis. The shorter was a period from onset to generalized convulsion (onset time), the longer was a duration of hospital stay. A notable complication was intramuscular hemorrhage in the lumbar muscles, which occurred in 2 patients. No patients died due to ICU managements, in which the most useful were propofol for spasm control and sedation, and magnesium sulfate for autonomic overactivity. Retrospectively, the Tetanus Severity Score (TSS) for mortality proposed by Thwaites et al (2006) is considered a useful tool also for predicting the clinical outcome at discharge. Although tetanus has been traditionally classified into the generalized, local, and cephalic types, a simpler severity-based classification into "severe", "moderate", and "mild" types may be more practical with regard to disease management. PMID:21987566
Fukutake, Toshio; Miyamoto, Ryosuke
Diagnosis and clinical features of trigemino-autonomic headaches.
Although severe short-lasting headaches are rare, they can be considered disabling conditions with a major impact on the quality of life of patients. These headaches can divided broadly in to those associated with autonomic symptoms, so called trigeminal autonomic cephalgias (TACs), and those with few or no autonomic symptoms. The TACs include cluster headache, paroxysmal hemicranias, hemicrania continua, and short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms as well as short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing syndrome. In all of these syndromes, half-sided head pain and ipsilateral cranial autonomic symptoms such as lacrimation or rhinorrhea are prominent. The paroxysmal hemicranias have, unlike cluster headaches, a very robust response to indomethacin, leading to a notion of indomethacin-sensitive headaches. The diagnosis of TACs is exclusively a clinical task. Because of the fact that cluster headache is strictly half-sided, typically involves the region around the eye and temple and often starts in the upper jaw, most patients first consult a dentist or ophthalmologist. No single instrumental examination has yet been able to define, or ensure, the correct diagnosis, or differentiate idiopathic headache syndromes. It is crucial that a trained neurologist sees these patients early so that management can be optimized and unnecessary procedures can be avoided. Although TACS are, in comparison to migraine, quite rare, they are nevertheless clinically very important for the neurologist to consider as they are easy to diagnose and the treatment is very effective in most patients. PMID:24090530
May, Arne
Recognizing clinical entities in hospital discharge summaries using Structural Support Vector Machines with word representation features
Background Named entity recognition (NER) is an important task in clinical natural language processing (NLP) research. Machine learning (ML) based NER methods have shown good performance in recognizing entities in clinical text. Algorithms and features are two important factors that largely affect the performance of ML-based NER systems. Conditional Random Fields (CRFs), a sequential labelling algorithm, and Support Vector Machines (SVMs), which is based on large margin theory, are two typical machine learning algorithms that have been widely applied to clinical NER tasks. For features, syntactic and semantic information of context words has often been used in clinical NER systems. However, Structural Support Vector Machines (SSVMs), an algorithm that combines the advantages of both CRFs and SVMs, and word representation features, which contain word-level back-off information over large unlabelled corpus by unsupervised algorithms, have not been extensively investigated for clinical text processing. Therefore, the primary goal of this study is to evaluate the use of SSVMs and word representation features in clinical NER tasks. Methods In this study, we developed SSVMs-based NER systems to recognize clinical entities in hospital discharge summaries, using the data set from the concept extration task in the 2010 i2b2 NLP challenge. We compared the performance of CRFs and SSVMs-based NER classifiers with the same feature sets. Furthermore, we extracted two different types of word representation features (clustering-based representation features and distributional representation features) and integrated them with the SSVMs-based clinical NER system. We then reported the performance of SSVM-based NER systems with different types of word representation features. Results and discussion Using the same training (N = 27,837) and test (N = 45,009) sets in the challenge, our evaluation showed that the SSVMs-based NER systems achieved better performance than the CRFs-based systems for clinical entity recognition, when same features were used. Both types of word representation features (clustering-based and distributional representations) improved the performance of ML-based NER systems. By combining two different types of word representation features together with SSVMs, our system achieved a highest F-measure of 85.82%, which outperformed the best system reported in the challenge by 0.6%. Our results show that SSVMs is a great potential algorithm for clinical NLP research, and both types of unsupervised word representation features are beneficial to clinical NER tasks.
[Denial of pregnancy and neonaticide: psychopathological and clinical features].
Pregnancy denial and neonaticide have recently received media coverage following a series of French cases of neonatal killing. Although it has been known for a long time that some women deny their pregnancy and may kill their newborns, there is still no consensus on the etiopathogenic factors involved in the denial of pregnancy occurrence. Even though neonaticide is often committed by young, poor, unmarried women with little or no prenatal care, it appears that denial of pregnancy is a heterogeneous condition associated with different psychological features. Societies are ambivalent with regard to mothers who killed their children and tend to lay the entire blame on them. Furthermore, there is a widespread lack of understanding among the public on these affairs, when birth control techniques and methods are widely available. The purpose of this article is to describe the different types of pregnancy denial and neonaticide and to review the still debated etiopathogenic hypotheses. The absence of the physical changes of pregnancy at the time of the denial such as cessation of menstruation, abdominal swelling or perception of foetal movements is also discussed. PMID:22939654
Seigneurie, A-S; Limosin, F
An adenomatoid odontogenic tumor with unusual clinical features.
Adenomatoid odontogenic tumors are uncommon odontogenic lesions characterized by duct-like structures that form from the epithelial component of the lesion. Most of these masses develop in the second or third decade of life, and there is a strong female bias in occurrence. Typically, these lesions arise in the lateral incisor/canine region of the maxilla, where they produce a swelling. Only in very rare cases is the lesion found distal to the premolar area. Nearly all of these growths are associated with an embedded anterior maxillary tooth (usually a canine), and most resemble a 1-3 cm diameter dentigerous cyst. Radiopacity is reported in two-thirds of cases. This article describes the case of a 9-year-old Caucasian male who presented with a painless swelling in the left premolar-molar region of his maxilla. This case is of particular interest because the features (patient age, gender, lesion location, size, and radiographic findings) were not typical of adenomatoid odontogenic tumor. PMID:11848196
Bulut, E; Tasar, F; Akkocaoglu, M; Ruacan, S
Clinical features associated with placebo response in refractory focal epilepsy.
For clinical trial design and for clinical practice, it is of importance to assess factors associated with placebo response in patients with refractory epilepsy. We determined factors associated with placebo response in 359 adult patients with refractory focal epilepsy participating in three randomized placebo-controlled trials of the new antiepileptic drug lacosamide. At the end of the randomized 12-week maintenance period, 81 (23%) of the 359 patients randomized to placebo achieved at least a 50% seizure reduction (responders) compared to baseline. In contrast, 278 (77%) patients did not achieve a 50% seizure reduction (non-responders) compared to baseline. In multivariate analysis, five factors, which were present prior to the exposure to placebo, were found to be associated with placebo response. Higher age at study entry improved the chances of placebo response for each year [p=0.023, odds ratio (OR) 1.034 (95% confidence interval (95% CI): 1.005-1.063)]. In contrast, a lower chance of placebo response was seen with age at diagnosis of epilepsy of 6-20 years compared to ?5 years [p=0.041, OR 0.475 (95% CI: 0.232-0.971)]. A history of 7 or more prior lifetime AEDs lowered the chance of achieving placebo response compared to 1-3 prior lifetime AEDs [p<0.001, OR 0.224 (95% CI: 0.101-0.493)] as did a baseline seizure frequency >10 seizures per 28 days compared to ?5 seizures per 28 days [p=0.026, OR 0.431 (95% CI: 0.205-0.904)]. Prior epilepsy surgery lowered the likelihood of placebo response [p=0.02, OR 0.22 (95% CI: 0.062-0.785)]. We suggest that age at exposure to placebo, age at diagnosis of epilepsy, the number of prior lifetime AEDs, baseline seizure frequency and a history of epilepsy surgery appear to be associated with placebo response in adults with refractory focal epilepsy. PMID:23490458
Schmidt, Dieter; Beyenburg, Stefan; D'Souza, Joseph; Stavem, Knut
Ocular toxoplasmosis II: clinical features, pathology and management
The term, ocular toxoplasmosis, refers to eye disease related to infection with the parasite, Toxoplasma gondii. Recurrent posterior uveitis is the typical form of this disease, characterized by unilateral, necrotizing retinitis with secondary choroiditis, occurring adjacent to a pigmented retinochoroidal scar and associated with retinal vasculitis and vitritis. Multiple atypical presentations are also described, and severe inflammation is observed in immunocompromised patients. Histopathological correlations demonstrate focal coagulative retinal necrosis, and early in the course of the disease, this inflammation is based in the inner retina. For typical ocular toxoplasmosis, a diagnosis is easily made on clinical examination. In atypical cases, ocular fluid testing to detect parasite DNA by polymerase chain reaction or to determine intraocular production of specific antibody may be extremely helpful for establishing aetiology. Given the high seroprevalence of toxoplasmosis in most communities, serological testing for T. gondii antibodies is generally not useful. Despite a lack of published evidence for effectiveness of current therapies, most ophthalmologists elect to treat patients with ocular toxoplasmosis that reduces or threatens to impact vision. Classic therapy consists of oral pyrimethamine and sulfadiazine, plus systemic corticosteroid. Substantial toxicity of this drug combination has spurred interest in alternative antimicrobials, as well as local forms of drug delivery. At this time, however, no therapeutic approach is curative of ocular toxoplasmosis.
Butler, Nicholas J; Furtado, Joao M; Winthrop, Kevin L; Smith, Justine R
Actinomycosis: etiology, clinical features, diagnosis, treatment, and management
Actinomycosis is a rare chronic disease caused by Actinomyces spp., anaerobic Gram-positive bacteria that normally colonize the human mouth and digestive and genital tracts. Physicians must be aware of typical clinical presentations (such as cervicofacial actinomycosis following dental focus of infection, pelvic actinomycosis in women with an intrauterine device, and pulmonary actinomycosis in smokers with poor dental hygiene), but also that actinomycosis may mimic the malignancy process in various anatomical sites. Bacterial cultures and pathology are the cornerstone of diagnosis, but particular conditions are required in order to get the correct diagnosis. Prolonged bacterial cultures in anaerobic conditions are necessary to identify the bacterium and typical microscopic findings include necrosis with yellowish sulfur granules and filamentous Gram-positive fungal-like pathogens. Patients with actinomycosis require prolonged (6- to 12-month) high doses (to facilitate the drug penetration in abscess and in infected tissues) of penicillin G or amoxicillin, but the duration of antimicrobial therapy could probably be shortened to 3 months in patients in whom optimal surgical resection of infected tissues has been performed. Preventive measures, such as reduction of alcohol abuse and improvement of dental hygiene, may limit occurrence of pulmonary, cervicofacial, and central nervous system actinomycosis. In women, intrauterine devices must be changed every 5 years in order to limit the occurrence of pelvic actinomycosis.
Valour, Florent; Senechal, Agathe; Dupieux, Celine; Karsenty, Judith; Lustig, Sebastien; Breton, Pierre; Gleizal, Arnaud; Boussel, Loic; Laurent, Frederic; Braun, Evelyne; Chidiac, Christian; Ader, Florence; Ferry, Tristan
Clinical and biochemical features associated with BCS1L mutation.
Our study describes a novel phenotype in a series of nine Saudi patients with lactic acidosis, from four consanguineous families three of which are related. Detailed genetic studies including linkage, homozygosity mapping and targeted sequencing identified a causative mutation in the BCS1L gene. All affected members of the families have an identical mutation in this gene, mutations of which are recognized causes of Bj�rnstad syndrome, GRACILE syndrome and a syndrome of neonatal tubulopathy, encephalopathy, and liver failure (MIM 606104) leading to isolated mitochondrial respiratory chain complex III deficiency. Here we report the appearance of a novel behavioral (five patients) and psychiatric (two patients) phenotype associated with a p.Gly129Arg BCS1L mutation, differing from the phenotype in a previously reported singleton patient with this mutation. The psychiatric symptoms emanated after childhood, initially as hypomania later evolving into intermittent psychosis. Neuroradiological findings included subtle white matter abnormalities, whilst muscle histopathology and respiratory chain studies confirmed respiratory chain dysfunction. The variable neuro-psychiatric manifestations and cortical visual dysfunction are most unusual and not reported associated with other BCS1L mutations. This report emphasizes the clinical heterogeneity associated with the mutation in BCS1L gene, even within the same family and we recommend that defects in this gene should be considered in the differential diagnosis of lactic acidosis with variable involvement of different organs. PMID:22991165
Al-Owain, Mohammed; Colak, Dilek; Albakheet, Albandary; Al-Younes, Banan; Al-Humaidi, Zainab; Al-Sayed, Moeen; Al-Hindi, Hindi; Al-Sugair, Abdulaziz; Al-Muhaideb, Ahmed; Rahbeeni, Zuhair; Al-Sehli, Abdullah; Al-Fadhli, Fatima; Ozand, Pinar T; Taylor, Robert W; Kaya, Namik
Alternaria infections: laboratory diagnosis and relevant clinical features.
The genus Alternaria contains several species of melanized hyphomycetes that cause opportunistic human infections. The published literature contains 210 reported cases of human alternarioses between 1933 and the present day. The most frequent clinical manifestations are cutaneous and subcutaneous infections (74.3%), followed by oculomycosis (9.5%), invasive and non-invasive rhinosinusitis (8.1%) and onychomycosis (8.1%). Immunosuppression is frequently associated with cutaneous and subcutaneous infections and rhinosinusitis. The most important risk factors for cutaneous and subcutaneous infections are solid organ transplantation and Cushing's syndrome, and those for rhinosinusitis are bone marrow transplants. Having been exposed to soil and garbage is common in all cases of oculomycosis, with corticotherapy being a risk factor in 50% of these cases. Previous contact with soil and/or trauma to the nails is associated with most cases of onychomycosis. In general, alternariosis shows a good response to conventional antifungal drugs. On some occasions, steroid suppression or reduction is sufficient to resolve an infection. Itraconazole is the antifungal drug used most frequently to successfully treat onychomycosis and cutaneous and subcutaneous infections. Posaconazole and voriconazole are promising therapeutic options, with the latter being especially so for oculomycosis. PMID:18727797
Pastor, F J; Guarro, J
Antibody specificity and related clinical features in antiphospholipid syndrome.
Abstract The concept of antiphospholipid syndrome (APS) has been widely accepted. Antiphospholipid antibodies originally included anticardiolipin antibodies and lupus anticoagulants. However, recent advances have shown that most pathogenic antiphospholipid antibodies are directed to phospholipid binding proteins such as ?2-glycoprotein I (?2-GPI) and prothrombin. Other candidates for antigens of so-called antiphospholipid antibodies are protein C, protein S, factor V, factor X, annexin V, high and low molecular weight kininogens, and complex with ?2-GPI and oxidized low-density lipoprotein (LDL). These autoantibodies directed to different phospholipid binding proteins are present in the blood stream, and contribute to triggering procoagulant effects on endothelial cells and platelets, leading to thrombosis. The heterogeneity of these antiphospholipid antibodies appears to explain various clinical manifestations in patients with APS. The preliminary classification criteria for definite APS and a general management policy have been proposed, although successful treatment of patients with antiphospholipid antibodies have only been shown by retrospective studies. Further prospective investigations are required to confirm the diagnostic and therapeutic criteria for patients with APS. PMID:24383686
Kaburaki, J
Crystal-associated synovitis- ultrasonographic feature and clinical correlation.
The aim of this paper is to describe the ultrasonographic findings in rheumatologic pathology due to crystal deposition. There are four main types of crystals involved: monosodium urate, calcium pyrophosphate dihydrate, basic calcium phosphate (hydroxyapatite), and calcium oxalate. In gout the joint fluid is anechoic only at the first gouty attack; afterwards the synovium begins to proliferate. Double contuour sign, a focal or diffuse enhancement of the superficial margin of the articular cartilage is a specific finding. Bursitis has chronic features from the beginning. The ultrasonographic aspect of tophi depends on their age and size (at first small, hypoechoic and homogenous nodules, then echoic with hyperechoic edges and finally pseudotumoral, inhomogeneous). The depositions in the superficial layer are hyperechoic, well delimited only in the absence of inflammatory reaction. The depositions at the entheseal level are leading to the gouty enthesopathy. In knee involvement irregularities of the anterior surface of patella are found. In chondrocalcinosis the most important ultrasonographic signs are the thin hyperechoic band, parallel to the surface of the hyaline cartilage and the punctuated pattern of the fibrocartilage. In hydroxyapatite associated disease, calcifications are frequent in the shoulder or in the great trochanter of the hip, with aspects depending of the calcification phase. Milwakee shoulder is an advanced form of this pathology, associated with rotator cuff arthropathy. Oxalate crystal deposition disease is seen rarely, in patients with primary hyperoxaluria and in patients with end-stage renal disease. Therefore ultrasonography is useful in characterize the articular and juxta-articular alterations in crystal related diseases. PMID:18449120
Fodor, Danela; Albu, Adriana; Gherman, Claudia
Otomycosis; clinical features, predisposing factors and treatment implications
Objectives : The aim of this study was to determine the frequency of otomycosis, the clinical presentation, predisposing factors and treatment outcomes. Methods: This observational study was conducted at ENT department of Combined Military Hospital Attock, from October, 2010 to September, 2012. Convenient sample comprising 180 patients of both sexes and all age groups were selected from ENT OPD. The frequency, predisposing factors and most common symptoms of otomycosis were recorded. The response to different antifungal agents was also observed. Results were recorded in percentages. Results: There were 180 patients with documented diagnosis of otomycosis. There were 107 (59%) males and 73 (41%) females. The age of patients ranged from 1� years to 75 years with a mean age of 38.5 years. Mean follow up time was 2 years. Most common presenting symptom was hearing loss (77.7%) followed by pruritis (68.8%) and otalgia (40%). We prescribed 1% clotrimazole drops or lotion in 58% patients and 2% salicylic acid in 31% cases. Both of these agents are effective. Topical 1% clotrimazole drops yielded highest resolution rate with lowest recurrent rate. Overall 149 (83%) patients were improved with initial treatment and 31 (17%) did not respond to initial treatment. Eight (4.4%) patients had a history of otological procedures. Four (2.2%) patients had canal wall down procedures that resulted in mastoid cavity. To analyse the efficacy of 1% clotrimazole and 2% salicylic acid we applied Z-Test to calculate the difference between 2 proportions of patients before treatment with those patients who remained uncured after treatment. Conclusion: Otomycosisis commonly presented with decreased hearing, pruritis, otalgia & otorrhoea. It usually resolves with local toilet of ear and instillation of antifungal agents. Eradication of disease is difficult in presence of a mastoid cavity and metabolic diseases like diabetes mellitus.
Anwar, Khurshid; Gohar, Muhammad Shahid
Otomycosis; clinical features, predisposing factors and treatment implications.
Objectives : The aim of this study was to determine the frequency of otomycosis, the clinical presentation, predisposing factors and treatment outcomes. Methods: This observational study was conducted at ENT department of Combined Military Hospital Attock, from October, 2010 to September, 2012. Convenient sample comprising 180 patients of both sexes and all age groups were selected from ENT OPD. The frequency, predisposing factors and most common symptoms of otomycosis were recorded. The response to different antifungal agents was also observed. Results were recorded in percentages. Results: There were 180 patients with documented diagnosis of otomycosis. There were 107 (59%) males and 73 (41%) females. The age of patients ranged from 1� years to 75 years with a mean age of 38.5 years. Mean follow up time was 2 years. Most common presenting symptom was hearing loss (77.7%) followed by pruritis (68.8%) and otalgia (40%). We prescribed 1% clotrimazole drops or lotion in 58% patients and 2% salicylic acid in 31% cases. Both of these agents are effective. Topical 1% clotrimazole drops yielded highest resolution rate with lowest recurrent rate. Overall 149 (83%) patients were improved with initial treatment and 31 (17%) did not respond to initial treatment. Eight (4.4%) patients had a history of otological procedures. Four (2.2%) patients had canal wall down procedures that resulted in mastoid cavity. To analyse the efficacy of 1% clotrimazole and 2% salicylic acid we applied Z-Test to calculate the difference between 2 proportions of patients before treatment with those patients who remained uncured after treatment. Conclusion: Otomycosisis commonly presented with decreased hearing, pruritis, otalgia & otorrhoea. It usually resolves with local toilet of ear and instillation of antifungal agents. Eradication of disease is difficult in presence of a mastoid cavity and metabolic diseases like diabetes mellitus. PMID:24948980
Anwar, Khurshid; Gohar, Muhammad Shahid
Understanding clinical features of adenomyosis: a case control study.
Adenomyosis is largely under diagnosed before hysterectomy and commonly co-exists with uterine fibroid. Thus this study aimed to elicit the clinical profile of adenomyosis by comparison with uterine fibroid. This is a hospital based prospective case-control study carried out from 1st April 2010 to 31st May 2011 which comprise of women undergoing hysterectomy with a histological diagnosis of sole adenomyosis without fibroid, women with both adenomyosis and fibroid and women with fibroid but no adenomyosis. Ambulatory records were performed. The study comprised 150 women, 78 (52%) women with adenomyosis without fibroid, 27 (18%) women with both adenomyosis and fibroid, 45 (30%) women with fibroid but no adenomyosis. Among women with adenomyosis alone, 78.2% had menorrhagia, 73.1% had dysmenorrhoea, 76.9% had chronic pelvic pain and women with adenomyosis and fibroid had menorrhagia in 85.2%, dysmenorrhoea in 51.9%, chronic pelvic pain in 48.1% compared with women of fibroid alone had menorrhagia in 75.6%, dysmenorrhoea in 66.77%, chronic pelvic pain in 51.1%. Women with adenomyosis group had significantly more of chronic pelvic pain (p-value: 0.003) and had significantly greater parity (p-value: 0.002). Size of uterus was significantly smaller in adenomyosis group (p-value: 0.018) as well as significantly more tender uterus was found in adenomyosis group (p-value: 0.000). Adenomyosis is more frequent among women reporting dysmenorrhoea, menometrorrhagia, chronic pelvic pain and along with bulky uterus. Women with fibroid alone has more of menorrhagia than pain and is associated with enlarge uterus. If women have small fibroid uterus but have more symptoms--think about co-existence of "ADENOMYOSIS". PMID:24047010
Shrestha, A; Sedai, L B
Syringomyelic syndrome: clinical features in 31 cases confirmed by CT myelography or magnetic resonance imaging.
The clinical features of 31 cases of syringomyelic syndrome, confirmed by metrizamide CT myelography (CTM) or magnetic resonance imaging (MRI), were analysed. Bilateral suspended sensory disturbance, previously regarded as a characteristic feature, was encountered in only 2 cases (6.5%). Thirteen patients (41.9%) showed no motor deficits of the upper limbs and 7 patients (22.6%) did not have weakness or atrophy in any of the four extremities. Cervical segmental signs were absent in 7 cases (22.6%) and in 2 (6.5%) signs were only present in the lower limbs. Scoliosis and foot deformity, such as pes cavus or equinovarus, were seen in 17 (54.8%) and 5 cases (16.1%) respectively. These skeletal abnormalities were initial symptoms in some childhood cases. In syringomyelic syndrome, clinical features are variable with many atypical clinical manifestations, apart from the previously recognized characteristic clinical features. PMID:3430180
Tashiro, K; Fukazawa, T; Moriwaka, F; Hamada, T; Isu, T; Iwasaki, Y; Abe, H
The Noonan Syndrome--A Review of the Clinical and Genetic Features of 27 Cases
ERIC Educational Resources Information Center
Reviewed were clinical and genetic features of 27 cases of the Noonan Syndrome, a condition with characteristics such as webbing of the neck, short stature, frequent congential heart lesions, and chromosomal irregularities. (DB)
Collins, Edith; Turner, Gillian
Combining Clinical, Sonographic, and Elastographic Features to Improve the Detection of Prostate Cancer.
National Technical Information Service (NTIS)
The goal of this project is to combine features derived from ultrasound (US) images, US radio frequency (RF) data, tissue elasticity imaging, and clinical data such as PSA into a computerized system for displaying prostate images that indicate probable lo...
B. S. Garra
Combining Clinical, Sonographic, and Elastigraphic Features to Improve the Detection of Prostate Cancer.
National Technical Information Service (NTIS)
The goal of this project is to combine features derived from ultrasound (US) images, US radio frequency (RF) data, tissue elasticity imaging, and clinical data such as PSA into a computerized system for displaying prostate images that indicate probable lo...
B. Garra
Contribution of IBD5 Locus to Clinical Features of IBD Patients
AIM:The aim of this study was to investigate the influence of the IBD5 locus on clinical features of inflammatory bowel disease (IBD) patients, and its possible interaction with the CARD15 gene.PATIENTS AND METHODS:A cohort of 1,199 IBD patients (570 with CD and 629 with ulcerative colitis [UC]), and 357 healthy subjects were investigated. Information on clinical features was fully available
Anna Latiano; O. Palmieri; Rossella M. Valvano; Renata D'Inc�; Maurizio Vecchi; Angelo Ferraris; Giacomo C. Sturniolo; Luisa Spina; Giovanni Lombardi; Bruno Dallapiccola; Angelo Andriulli; Marcella Devoto; Vito Annese
Infection of Cerebrospinal Fluid Shunts: Causative Pathogens, Clinical Features, and Outcomes
SUMMARY: This retrospective chart review describes the clinical features, pathogens, and outcomes of 46 patients with cerebrospinal fluid (CSF) shunt infections collected over 16 years. The overall CSF shunt infection rate was 2.1%, broken down into 1.7 and 9.3% in adult and pediatric groups, respectively. Fever and progressive consciousness disturbance were the most prominent clinical features in the adult patient
Kuo-Wei Wang; Wen-Neng Chang; Teng-Yuan Shih; Chi-Ren Huang; Nai-Wen Tsai; Chen-Sheng Chang; Yao-Chung Chuang; Po-Chou Liliang; Thung-Ming Su; Cheng-Shyuan Rau; Yu-Duan Tsai; Ben-Chung Cheng; Pi-Lien Hung; Chin-Jung Chang; Cheng-Hsien Lu
Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation
Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation.BackgroundSeveral families have been described in which an A to G transition mutation at position 3243 (A3243G) of the mitochondrial DNA (mtDNA) is associated with focal and segmental glomerulosclerosis (FSGS). However, the prevalence, clinical features, and pathophysiology of FSGS carrying mtDNA mutations are largely undefined.MethodsAmong 11 biopsy-proven primary
Osamu Hotta; Chiyoko N. Inoue; Shigeaki Miyabayashi; Takashi Furuta; Akihiko Takeuchi; Yoshio Taguma
Decreased hippocampal expression of Calbindin D28K and cognitive impairment in MELAS
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a maternally inherited mitochondrial syndrome characterized by seizures, migrainous headaches, lactic acidosis, vomiting, and recurrent stroke-like episodes. Patients often suffer from cognitive dysfunction of unclear pathogenesis. In this study, we explored a possible link between cognitive dysfunction and hippocampal expression of calbindin D28KD (CB), a high affinity calcium-binding protein, in four MELAS patients, using post mortem hippocampal tissues. We found significantly reduced CB levels in all patients by immunohistochemistry, Western blot, and quantitative real-time PCR. Reduction in CB expression has been associated with aging and with neurodegenerative disorders, including Alzheimer�s disease. We postulate that the reduced CB expression may play a role in the cognitive abnormalities associated with MELAS.
Emmanuele, Valentina; Garcia-Cazorla, Angels; Huang, Hua-Bin; Coku, Jorida; Dorado, Beatriz; Cortes, Etty P; Engelstad, Kristin; De Vivo, Darryl C.; DiMauro, Salvatore; Bonilla, Eduardo; Tanji, Kurenai
MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity
OBJECTIVES�To define the molecular genetic basis of the MELAS phenotype in five patients without any known mutation of mitochondrial DNA.?METHODS�Systematic automated mitochondrial DNA sequencing of all mitochondrial transfer RNA and cytochrome c oxidase genes was undertaken in five patients who had the MELAS phenotype.?RESULTS� A novel heteroplasmic mitochondrial DNA mutation was identified in the transfer RNA gene for phenylalanine in one case (patient 3). This mutation was not detected in the patient's blood or in her mother's blood. No pathogenic mutations were identified in the other four patients.?CONCLUSIONS�This is the first point mutation in the transfer RNA gene for phenylalanine to be associated with MELAS. The absence of mutations in the remaining four patients suggests that there is further genetic heterogeneity associated with this mitochondrial phenotype.??
Hanna, M; Nelson, I; Morgan-Hughes, J; Wood, N
Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations.
A number of human diseases are caused by inherited mitochondrial DNA mutations. Two of these diseases, MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) and MERRF (myoclonic epilepsy and ragged-red fibres), are commonly caused by point mutations to tRNA genes encoded by mitochondrial DNA. Here we report on how these mutations affect mitochondrial function in primary fibroblast cultures established from a MELAS patient containing an A to G mutation at nucleotide 3243 in the tRNA(Leu(UUR) gene and a MERRF patient containing an A to G mutation at nucleotide 8344 in the tRNA(Lys) gene. Both mitochondrial membrane potential and respiration rate were significantly decreased in digitonin-permeabilized MELAS and MERRF fibroblasts respiring on glutamate/malate. A similar decrease in mitochondrial membrane potential was found in intact MELAS and MERRF fibroblasts. The mitochondrial content of these cells, estimated by stereological analysis of electron micrographs and from measurement of mitochondrial marker enzymes, was similar in control, MELAS and MERRF cells. Therefore, in cultured fibroblasts, mutation of mitochondrial tRNA genes leads to assembly of bioenergetically incompetent mitochondria, not to an alteration in their amount. However, the cell volume occupied by secondary lysosomes and residual bodies in the MELAS and MERRF cells was greater than in control cells, suggesting increased mitochondrial degradation in these cells. In addition, fibroblasts containing mitochondrial DNA mutations were 3-4-fold larger than control fibroblasts. The implications of these findings for the pathology of mitochondrial diseases are discussed.
James, A M; Wei, Y H; Pang, C Y; Murphy, M P
Fluent Versus Nonfluent Primary Progressive Aphasia: A Comparison of Clinical and Functional Neuroimaging Features
ERIC Educational Resources Information Center
To better characterize fluent and nonfluent variants of primary progressive aphasia (PPA). Although investigators have recognized both fluent and nonfluent patients with PPA (Mesulam, 2001), the clinical and neuroimaging features of these variants have not been fully defined. We present clinical and neuropsychological data on 47 PPA patients�
Clark, D.G.; Charuvastra, A.; Miller, B.L.; Shapira, J.S.; Mendez, M.F.
Clinical-Epidemiological Features of 13 Cases of Melioidosis in Brazil
The aim of this work was to catalog the clinical and ecoepidemiological characteristics of melioidosis in Brazil. The clinical-epidemiological features of melioidosis in Cear� are similar to those in other regions where the disease is endemic. These findings support the inclusion of this Brazilian state as part of the zone of endemicity for melioidosis.
Bandeira, Tereza J. P. G.; Cordeiro, Rossana A.; Grangeiro, Thalles B.; Lima, Rita A. C.; Ribeiro, Joyce F.; Castelo-Branco, Debora S. C. M.; Rodrigues, Jorge L. N.; Coelho, Ivo C. B.; Magalhaes, Francisco G.; Rocha, Marcos F. G.; Sidrim, Jose J. C.
Current concepts on the clinical features, aetiology and management of idiopathic cervical dystonia
Summary Idiopathic cervical dystonia (ICD) is the most common form of adult-onset focal dystonia. Previously, disagreement existed about whether ICD was a psychiatric illness, but the disorder is now viewed as a neurological illness and large clinical series have clarified the clinical features of the disease. At the time of diagnosis, extracervical dystonia is found in ~20% of patients, and
William T. Dauer; Robert E. Burke; Paul Greene; Stanley Fahn
Clinical Approach to Parkinson's Disease: Features, Diagnosis, and Principles of Management
Parkinson's disease (PD) is one of the most common neurodegenerative disorders. The condition causes a heavy burden both on those affected, as well as their families. Accurate diagnosis is critical and remains founded on clinical grounds as no specific diagnostic test is available so far. The clinical picture of PD is typical in many instances; however, features distinguishing it from other disorders should be thoroughly sought. Monogenic forms of PD also have some distinctive characteristics in many cases. This text is a roadmap to accurate diagnosis in PD, as it approaches clinical features, diagnostic methodology, and leading differential diagnoses. Therapeutic issues are also briefly discussed.
Massano, Joao; Bhatia, Kailash P.
Grammatical Evolution for Features of Epileptic Oscillations in Clinical Intracranial Electroencephalograms
This paper presents grammatical evolution (GE) as an approach to select and combine features for detecting epileptic oscillations within clinical intracranial electroencephalogram (iEEG) recordings of patients with epilepsy. Clinical iEEG is used in preoperative evaluations of a patient who may have surgery to treat epileptic seizures. Literature suggests that pathological oscillations may indicate the region(s) of brain that cause epileptic seizures, which could be surgically removed for therapy. If this presumption is true, then the effectiveness of surgical treatment could depend on the effectiveness in pinpointing critically diseased brain, which in turn depends on the most accurate detection of pathological oscillations. Moreover, the accuracy of detecting pathological oscillations depends greatly on the selected feature(s) that must objectively distinguish epileptic events from average activity, a task that visual review is inevitably too subjective and insufficient to resolve. Consequently, this work suggests an automated algorithm that incorporates grammatical evolution (GE) to construct the most sufficient feature(s) to detect epileptic oscillations within the iEEG of a patient. We estimate the performance of GE relative to three alternative methods of selecting or combining features that distinguish an epileptic gamma (~65-95 Hz) oscillation from normal activity: forward sequential feature-selection, backward sequential feature-selection, and genetic programming. We demonstrate that a detector with a grammatically evolved feature exhibits a sensitivity and selectivity that is comparable to a previous detector with a genetically programmed feature, making GE a useful alternative to designing detectors.
Smart, Otis; Tsoulos, Ioannis G.; Gavrilis, Dimitris; Georgoulas, George
Critical analysis of the impact of glottal features in the classification of clinical depression in speech.
The motivation for this work is in an attempt to rectify the current lack of objective tools for clinical analysis of emotional disorders. This study involves the examination of a large breadth of objectively measurable features for use in discriminating depressed speech. Analysis is based on features related to prosodics, the vocal tract, and parameters extracted directly from the glottal waveform. Discrimination of the depressed speech was based on a feature selection strategy utilizing the following combinations of feature domains: prosodic measures alone, prosodic and vocal tract measures, prosodic and glottal measures, and all three domains. The combination of glottal and prosodic features produced better discrimination overall than the combination of prosodic and vocal tract features. Analysis of discriminating feature sets used in the study reflect a clear indication that glottal descriptors are vital components of vocal affect analysis. PMID:18232351
Moore, Elliot; Clements, Mark A; Peifer, John W; Weisser, Lydia
Chin fasciculations in Madras motor neuron disease: a new clinical feature.
The characteristic features of Madras motor neuron disease (MMND) are onset in the young in the first two decades, sporadic occurrence, facial and bulbar paralysis, sensorineural hearing impairment, asymmetrical weakness of limbs and pyramidal signs with a slow progression. The majority of the cases reported are from South India. MMND variant has the additional features of optic atrophy and cerebellar signs. We are reporting a 48 year old female of MMND who had persistent fasciculations of chin, with electromyographic features of fasciculations and fibrillations in mentalis muscle. Chin fasciculations, a rare clinical feature, is now described for the first time in Madras motor neuron disease adding a new feature to the clinical constellation of symptoms. PMID:24441336
Gourie-Devi, Mandaville; Maheshwari, Siddharth; Panda, Akhila Kumar; Bala, Kiran
Cognitive Impairment and Dementia in Parkinson's Disease: Clinical Features, Diagnosis, and Management
Parkinson�s disease (PD) is a common, disabling, neurodegenerative disorder. In addition to classical motor symptoms, non-motor features are now widely accepted as part of the clinical picture, and cognitive decline is a very important aspect of the disease, as it brings an additional significant burden for the patient and caregivers. The diagnosis of cognitive decline in PD, namely mild cognitive impairment (MCI) and dementia, can be extremely challenging, remaining largely based on clinical and cognitive assessments. Diagnostic criteria and methods for PD dementia and MCI have been recently issued by expert work groups. This manuscript has synthesized relevant data in order to obtain a pragmatic and updated review regarding cognitive decline in PD, from milder stages to dementia. This text will summarize clinical features, diagnostic methodology, and therapeutic issues of clinical decline in PD. Relevant clinical genetic issues, including recent advances, will also be approached.
Meireles, Joana; Massano, Joao
Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease
BACKGROUND AND PURPOSE MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) is a mitochondrial disease most usually caused by point mutations in tRNA genes encoded by mitochondrial DNA (mtDNA). Approximately 80% of cases of MELAS syndrome are associated with a m.3243A > G mutation in the MT-TL1 gene, which encodes the mitochondrial tRNALeu (UUR). Currently, no effective treatments are available for this chronic progressive disorder. Treatment strategies in MELAS and other mitochondrial diseases consist of several drugs that diminish the deleterious effects of the abnormal respiratory chain function, reduce the presence of toxic agents or correct deficiencies in essential cofactors. EXPERIMENTAL APPROACH We evaluated the effectiveness of some common pharmacological agents that have been utilized in the treatment of MELAS, in yeast, fibroblast and cybrid models of the disease. The yeast model harbouring the A14G mutation in the mitochondrial tRNALeu(UUR) gene, which is equivalent to the A3243G mutation in humans, was used in the initial screening. Next, the most effective drugs that were able to rescue the respiratory deficiency in MELAS yeast mutants were tested in fibroblasts and cybrid models of MELAS disease. KEY RESULTS According to our results, supplementation with riboflavin or coenzyme Q10 effectively reversed the respiratory defect in MELAS yeast and improved the pathologic alterations in MELAS fibroblast and cybrid cell models. CONCLUSIONS AND IMPLICATIONS Our results indicate that cell models have great potential for screening and validating the effects of novel drug candidates for MELAS treatment and presumably also for other diseases with mitochondrial impairment.
Garrido-Maraver, Juan; Cordero, Mario D; Monino, Irene Dominguez; Pereira-Arenas, Sheila; Lechuga-Vieco, Ana V; Cotan, David; De la Mata, Mario; Oropesa-Avila, Manuel; De Miguel, Manuel; Bautista Lorite, Juan; Rivas Infante, Eloy; Alvarez-Dolado, Manuel; Navas, Placido; Jackson, Sandra; Francisci, Silvia; Sanchez-Alcazar, Jose A
Combined effects of ethanol and cinnamaldehyde in the Japanese medaka embryo-larval assay (MELA)
The Japanese medaka (Oryzias latipes) was used in the medaka embryo-larval assay (MELA) to determine possible adverse developmental effects of ethanol and the spice component, cinnamaldehyde (CAD). Fish may be exposed to waterborne ethanol and a variety of natural products from non-point sources or leaks during ethanol use as a fuel and from point source processing plant effluents. Consumption of
Mary L. Haasch; Annette W. Ford
Geology of the Melas Chasma landing site for the Mars Exploration Rover mission
The Melas Chasma landing site was considered a high-priority site for the Mars Exploration Rover (MER) mission because of the opportunity to land on and study potential layered sedimentary deposits. Though no longer considered a candidate site because of safety concerns, the site remains a scientifically interesting area that provides insight into the geologic history of Valles Marineris. Within the
Catherine M. Weitz; Timothy J. Parker; Mark H. Bulmer; F. Scott Anderson; John A. Grant
Geomorphological characteristics of the interior layered deposits (ILDs) of Melas Chasma, central Valles Marineris, Mars
NASA Astrophysics Data System (ADS)
Stretching almost 600 km in width, Melas Chasma is located in the central part of the Valles Marineris (VM) and is one of the lowest lying of the chasmata. Spectral mapping of this chasma, particularly using MEX's OMEGA instrument, has revealed a strong presence of water-altered minerals (roughly a quarter of all such detected minerals to date in the VM; Chojnacki & Hynek, 2008), in the form of monohydrated and polyhydrated sulphates. Most of the sulphate-bearing rocks in Melas are found in association with thinly layered deposits, occurring in outcrops on the chasma floor. So-called interior layered deposits (ILDs) throughout the Valles Marineris have been the subject of considerable recent research, particularly for their association with these water-altered minerals. Better understanding of the origin and evolution of these ILDs may help to shed more light on the past climatic conditions on Mars and the potentially complicated history of liquid water on the planet. Relatively little geomorphological study of the ILDs of Melas Chasma has been conducted to date with regard to the differing characteristics of the different sulphate-bearing rocks. For instance, areas corresponding to polyhydrated sulphates in the Melas ILDs show considerable different surface textures to those corresponding to monohydrated sulphates. Interestingly, the latter show some surface textures comparable to the wind eroded, yardang bearing surfaces of the Medusae Fossae Formation, located roughly 4000 km to the west on the opposite side of the Tharsis volcanic province. This aim of this work, conducted as part of the European Research Council supported eMars project, is to compile a thorough geomorphological survey of the Melas Chasma ILDs and, through this, construct workable hypotheses regarding their origin and evolution and the context of their water-altered mineral content. Furthermore, to contrast and compare the ILDs of Melas with other large-scale deposits, such as the Medusae Fossae Formation and to collate evidence to support Melas Chasma's potential as a suitable landing site for any future martian rover/lander missions.
Harrison, Samantha; Quantin-Nataf, Cathy
Clinical features of thyroid-associated ophthalmopathy in clinically euthyroid Korean patients
Aim To compare clinical characteristics and thyroid-stimulating hormone receptor antibodies (TRAbs) in thyroid-associated ophthalmopathy (TAO) in euthyroid Korean patients with those in hyperthyroid patients. Methods Clinical activity scores (CASs), modified NOSPECS scores, exophthalmometry values, prevalence of optic neuropathy, restrictive myopathy and lid retraction, and the positivity and levels of TRAb (thyrotropin-binding inhibitor immunoglobulin (TBII) and thyroid-stimulating immunoglobulin (TSI)) were compared in 24 euthyroid (group A) and 139 clinical/subclinical hyperthyroid TAO patients (group B). Results Group A presented more clinically unilateral involvement than group B (79.2% vs 27.3%, P<0.001), less active (CAS 1.50 vs 2.26, P=0.014) and less severe clinical course (NOSPECS 3.38 vs 4.13, P=0.037). Lid retraction was more prevalent in group A than group B (91.7% vs 66.2%, P=0.014). Prevalence of optic neuropathy and restrictive myopathy, and the mean value of exophthalmometry were not different. Mean TBII levels were lower (7.20?IU/l) in group A than in group B (44.58?IU/l, P<0.001). A similar difference was found in the TSI bioassay (201.40% vs 425.19%, P=0.001). The positive rate of TBII in group A (34.8%) was significantly lower than in group B (90.8%, P<0.001). The positive rate of TSI was high in both group A (83.3%) and B (91.7%), with no significant difference (P=0.337). Conclusions Patients with euthyroid TAO showed a less active and severe clinical course, more unilateral involvement, and lower levels of TRAb than those in patients with hyperthyroid TAO. These distinct clinical and biochemical characteristics might be useful in assessment of euthyroid TAO, and the TSI might be more sensitive for diagnosing these patients.
Jang, S Y; Lee, S Y; Lee, E J; Yoon, J S
Evaluation of features to support safety and quality in general practice clinical software
Background Electronic prescribing is now the norm in many countries. We wished to find out if clinical software systems used by general practitioners in Australia include features (functional capabilities and other characteristics) that facilitate improved patient safety and care, with a focus on quality use of medicines. Methods Seven clinical software systems used in general practice were evaluated. Fifty software features that were previously rated as likely to have a high impact on safety and/or quality of care in general practice were tested and are reported here. Results The range of results for the implementation of 50 features across the 7 clinical software systems was as follows: 17-31 features (34-62%) were fully implemented, 9-13 (18-26%) partially implemented, and 9-20 (18-40%) not implemented. Key findings included: Access to evidence based drug and therapeutic information was limited. Decision support for prescribing was available but varied markedly between systems. During prescribing there was potential for medicine mis-selection in some systems, and linking a medicine with its indication was optional. The definition of 'current medicines' versus 'past medicines' was not always clear. There were limited resources for patients, and some medicines lists for patients were suboptimal. Results were provided to the software vendors, who were keen to improve their systems. Conclusions The clinical systems tested lack some of the features expected to support patient safety and quality of care. Standards and certification for clinical software would ensure that safety features are present and that there is a minimum level of clinical functionality that clinicians could expect to find in any system.
Serologic features of primary Sj?gren's syndrome: clinical and prognostic correlation
Sj�gren�s syndrome (SS) is a chronic inflammatory systemic autoimmune disease. The disease spectrum extends from sicca syndrome to systemic involvement and extraglandular manifestations, and SS may be associated with malignancies, especially non-Hodgkin�s lymphoma. Patients with SS present a broad spectrum of serologic features. Certain serological findings are highly correlated with specific clinical features, and can be used as prognostic markers.
Garcia-Carrasco, Mario; Mendoza-Pinto, Claudia; Jimenez-Hernandez, Cesar; Jimenez-Hernandez, Mario; Nava-Zavala, Arnulfo; Riebeling, Carlos
Identifying potential clinical syndromes of hepatocellular carcinoma using PSO-based hierarchical feature selection algorithm.
Hepatocellular carcinoma (HCC) is one of the most common malignant tumors. Clinical symptoms attributable to HCC are usually absent, thus often miss the best therapeutic opportunities. Traditional Chinese Medicine (TCM) plays an active role in diagnosis and treatment of HCC. In this paper, we proposed a particle swarm optimization-based hierarchical feature selection (PSOHFS) model to infer potential syndromes for diagnosis of HCC. Firstly, the hierarchical feature representation is developed by a three-layer tree. The clinical symptoms and positive score of patient are leaf nodes and root in the tree, respectively, while each syndrome feature on the middle layer is extracted from a group of symptoms. Secondly, an improved PSO-based algorithm is applied in a new reduced feature space to search an optimal syndrome subset. Based on the result of feature selection, the causal relationships of symptoms and syndromes are inferred via Bayesian networks. In our experiment, 147 symptoms were aggregated into 27 groups and 27 syndrome features were extracted. The proposed approach discovered 24 syndromes which obviously improved the diagnosis accuracy. Finally, the Bayesian approach was applied to represent the causal relationships both at symptom and syndrome levels. The results show that our computational model can facilitate the clinical diagnosis of HCC. PMID:24745007
Ji, Zhiwei; Wang, Bing
Identifying Potential Clinical Syndromes of Hepatocellular Carcinoma Using PSO-Based Hierarchical Feature Selection Algorithm
Hepatocellular carcinoma (HCC) is one of the most common malignant tumors. Clinical symptoms attributable to HCC are usually absent, thus often miss the best therapeutic opportunities. Traditional Chinese Medicine (TCM) plays an active role in diagnosis and treatment of HCC. In this paper, we proposed a particle swarm optimization-based hierarchical feature selection (PSOHFS) model to infer potential syndromes for diagnosis of HCC. Firstly, the hierarchical feature representation is developed by a three-layer tree. The clinical symptoms and positive score of patient are leaf nodes and root in the tree, respectively, while each syndrome feature on the middle layer is extracted from a group of symptoms. Secondly, an improved PSO-based algorithm is applied in a new reduced feature space to search an optimal syndrome subset. Based on the result of feature selection, the causal relationships of symptoms and syndromes are inferred via Bayesian networks. In our experiment, 147 symptoms were aggregated into 27 groups and 27 syndrome features were extracted. The proposed approach discovered 24 syndromes which obviously improved the diagnosis accuracy. Finally, the Bayesian approach was applied to represent the causal relationships both at symptom and syndrome levels. The results show that our computational model can facilitate the clinical diagnosis of HCC.
Ji, Zhiwei; Wang, Bing
Clinical Significance of Histological Features of Thrombi in Patients with Myocardial Infarction
Background Percutaneous Coronary Intervention (PCI) is the most common strategy for the treatment of Acute ST segment elevation Myocardial Infarction (STEMI), and thromboaspiration has been increasingly utilized for removal of occlusive thrombi. Objectives To analyze the influence of histopathological features of coronary thrombi in clinical outcomes of patients with STEMI, and the association of these variables with clinical, angiographic, and laboratory features and medications used in hospitalization. Methods Prospective cohort study. All patients were monitored during hospitalization and thirty days after the event. Aspirated thrombi were preserved in formalin and subsequently stained with hematoxylin-eosin and embedded in paraffin. Thrombi were classified as recent and old. The primary outcome was the occurrence of major cardiovascular events within thirty days. Results During the study period, 1,149 patients were evaluated with STEMI, and 331 patients underwent thrombi aspiration, leaving 199 patients available for analysis. It was identified recent thrombi in 116 patients (58%) and old thrombi in 83 patients (42%). Recent thrombi have greater infiltration of red blood cells than old thrombi (p = 0.02), but there were no statistically significant differences between other clinical, angiographic, laboratory, and histopathological features and medications in both group of patients. The rates of clinical outcomes were similar in both groups. Conclusions Recent thrombi were identified in 58% of patients with STEMI and it was observed an association with infiltration of red blood cells. There was no association between histopathological features of thrombi and clinical variables and cardiovascular outcomes.
Sebben, Juliana Canedo; Cambruzzi, Eduardo; Avena, Luisa Martins; Gazeta, Cristina do Amaral; Gottschall, Carlos Antonio Mascia; de Quadros, Alexandre Schaan
[Clinical and histopathological features of myositis associated with anti-mitochondrial antibodies].
Anti-mitochondrial antibodies (AMA) are known to be characteristic markers of primary biliary cirrhosis (PBC). The association of PBC with myositis has been reported mainly as case reports, and comprehensive studies of the clinical and histopathological features of patients with myositis and AMAs or PBC have not been conducted thus far. We retrospectively reviewed 212 patients with inflammatory myopathies in our laboratory and found 24 patients with AMA-positive myositis (11%) (seven patients with PBC and 17 patients without PBC). The analysis of clinical and histopathological features revealed that myositis associated with AMAs frequently include patients with a clinically chronic disease course, muscle atrophy, cardiopulmonary involvement and granulomatous inflammation, regardless of the presence or absence of PBC. We also reviewed and analyzed the clinical features of previously reported patients. The analysis of 75 patients, which have been described in previous case reports including the ones of meeting abstracts, also showed the similar results about clinical features of myositis associated with AMAs and supported our findings. Our study suggests that myositis associated with AMAs form a characteristic subgroup. PMID:24291896
Shimizu, Jun
The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.
The detailed clinical features and progress of a child with homozygous alpha 2(I) collagen deficiency are described. Clinically, the disease presents as severe progressive Sillence type III osteogenesis imperfecta. The main biochemical defect is the synthesis of an abnormal pro alpha 2(I) chain which does not associate with pro alpha 1(I) chains and therefore is not incorporated into triple helical trimers of type I procollagen which can be used to assemble collagen fibres. Images
Nicholls, A C; Osse, G; Schloon, H G; Lenard, H G; Deak, S; Myers, J C; Prockop, D J; Weigel, W R; Fryer, P; Pope, F M
Clinical Features of Chronic Pancreatitis in Korea: A Multicenter Nationwide Study
Background\\/Aims: No reliable nationwide clinical data about chronic pancreatitis (CP) was available in Korea. The etiology and clinical features of CP were investigated using a multicenter nationwide study. Methods: 814 cases of CP were enrolled retrospectively over the past 4 years at 13 hospitals. The following data were obtained from all patients: etiology, symptoms, complications, and surgery. Result: Alcohol (64.3%)
Ji Kon Ryu; Jun Kyu Lee; Yong-Tae Kim; Dong Ki Lee; Dong Wan Seo; Kyu Taek Lee; Ho Gak Kim; Jae Seon Kim; Hong Sik Lee; Tae Nyeun Kim; Myung Hwan Rho; Jong Ho Moon; Jin Lee; Ho-Soon Choi; Woo Jin Lee; Byung Moo Yoo; Yong Bum Yoon
Clinical features of early onset, familial Alzheimer`s disease linked to chromosome 14
Early onset familial Alzheimer`s disease (AD) has an autosomal dominant mode of inheritance. Two genes are responsible for the majority of cases of this subtype of AD. Mutations in the {beta}-amyloid precursor protein ({beta}APP) gene on chromosome 21 have been shown to completely cosegregate with the disease. We and others have previously described the clinical features of families with {beta}APP mutations at the codon 717 locus in an attempt to define the phenotype associated with a valine to isoleucine (Val {r_arrow} Ile) or a valine to glycine (Val {r_arrow} Gly) change. More recently, a second locus for very early onset disease has been localized to chromosome 14. The results of linkage studies in some families suggesting linkage to both chromosomes have been explained by the suggestion of a second (centromeric) locus on chromosome 21. Here we report the clinical features and genetic analysis of a British pedigree (F74) with early onset AD in which neither the {beta}APP locus nor any other chromosome 21 locus segregates with the disease, but in which good evidence is seen for linkage on the long arm of chromosome 14. In particular we report marker data suggesting that the chromosome 14 disease locus is close to D14S43 and D14S77. Given the likelihood that F74 represents a chromosome 14 linked family, we describe the clinical features and make a limited clinical comparison with the {beta}APP717 Val {r_arrow} Ile and {beta}APP717 Val {r_arrow} Gly encoded families that have been previously described. We conclude that although several previously reported clinical features occur to excess in early onset familial AD, no single clinical feature demarcates either the chromosome 14 or {beta}APP codon 717 mutated families except mean age of onset. 52 refs., 2 figs., 5 tabs.
Mullan, M.; Bennett, C.; Figueredo, C.; Crawford, F. [Univ. of South Florida, Tampa, FL (United States)] [and others
Clinical Features of Mild Cognitive Impairment Differ in the Research and Tertiary Clinic Settings
Objective Comparative analysis of subjects with mild cognitive impairment (MCI) diagnosed in a primary research setting and those seen in a tertiary care memory disorders clinic. Methods Subjects who received a diagnosis of MCI between July 1, 2005, and December 31, 2006, in a longitudinal research study of normal cognition (n = 48) and patients diagnosed in a tertiary care referral clinic (n = 34) were evaluated using similar methodologies. Comparative analyses of detailed medical, neurological and neuropsychological data are presented. Results The diagnosis of MCI was not accepted by 13 of 48 subjects (27%) classified as MCI in the primary research setting. Nondegenerative, potentially treatable causes of cognitive decline were found in 3 of 34 subjects (9%) seen in the tertiary referral clinic and in 11 of 35 subjects (31%) identified as MCI in the primary research setting (p = 0.02, Fisher�s exact test). MCI subjects identified in the primary research setting were older than those referred to the memory clinic (mean � SD, 79.7 � 7.0 vs. 71.5 � 9.0 years, p < 0.0001, t test) and had more years of education (16.0 � 3.2 vs. 13.6 � 4.2 years, p < 0.01, t test). MCI subjects in the primary research setting appeared to be in a milder stage of disease, characterized by higher Mini-Mental State Examination scores (28.2 � 1.8 vs. 25.7 � 1.8, p < 0.0001), and a tendency towards single domain involvement, predominantly memory (mean number of domains involved, 1.0 vs. 2.5, p < 0.0001). More advanced stages of MCI, seen in the tertiary referral population, had additional involvement of attention (p < 0.0001, Fisher�s exact test) and visuospatial domains (p < 0.0002, Fisher�s exact test). Semiquantitative grading of hippocampal and medial temporal lobe atrophy did not differ between groups (p = 0.81, Mann-Whitney U test). Conclusions The diagnosis of MCI may be unwelcome in na�ve persons. Remedial causes of MCI should be actively investigated. Demographic and clinical characteristics of MCI differ between research subjects and patients referred to a tertiary care clinic.
Jicha, G.A.; Abner, E.; Schmitt, F.A.; Cooper, G.E.; Stiles, N.; Hamon, R.; Carr, S.; Smith, C.D.; Markesbery, W.R.
Hydrated Minerals Associated with Interior Layered Deposits Near the Southern Wall of Melas Chasma, Valles Marineris, Mars
NASA Astrophysics Data System (ADS)
We identified a sequence of interior layered deposits over a portion of the southern wall and nearby floor of Melas Chasma using MRO CRISM data. Polyhydrated sulfates, monohydrated sulfates, and jarosite were identified in the ILDS.
Liu, Y.; Arvidson, R. E.; Li, R.; Wang, W.
Clozapine-induced serositis: review of its clinical features, pathophysiology and management strategies.
Although the benefits of clozapine have been well demonstrated in resistant schizophrenia, the frequency of adverse events is of particular concern: up to 76% of patients to whom clozapine was prescribed experienced an adverse event, with a discontinuation rate of 17%. In addition to its major clinical side effect, agranulocytosis, clozapine is reported to induce inflammatory syndromes with polyserositis. Apart from sparse case reports, no study has yet addressed this particularly interesting issue. With the aim of improving the outcome of clozapine-treated patients, we undertook a review of the literature to characterize the clinical features of clozapine-induced serositis, its pathophysiology, and to propose strategies of clinical management. PMID:19620851
Mouaffak, Fay�al; Gaillard, Raphael; Burgess, Elizabeth; Zaki, Hanane; Oli�, Jean Pierre; Krebs, Marie-Odile
Modified Logistic Regression Models Using Gene Coexpression and Clinical Features to Predict Prostate Cancer Progression
Predicting disease progression is one of the most challenging problems in prostate cancer research. Adding gene expression data to prediction models that are based on clinical features has been proposed to improve accuracy. In the current study, we applied a logistic regression (LR) model combining clinical features and gene co-expression data to improve the accuracy of the prediction of prostate cancer progression. The top-scoring pair (TSP) method was used to select genes for the model. The proposed models not only preserved the basic properties of the TSP algorithm but also incorporated the clinical features into the prognostic models. Based on the statistical inference with the iterative cross validation, we demonstrated that prediction LR models that included genes selected by the TSP method provided better predictions of prostate cancer progression than those using clinical variables only and/or those that included genes selected by the one-gene-at-a-time approach. Thus, we conclude that TSP selection is a useful tool for feature (and/or gene) selection to use in prognostic models and our model also provides an alternative for predicting prostate cancer progression.
Zhao, Hongya; Logothetis, Christopher J.; Gorlov, Ivan P.; Zeng, Jia; Dai, Jianguo
Differences between bipolar I and bipolar II disorders in clinical features, comorbidity, and family history
BackgroundThe present study was designed to investigate whether bipolar II disorder (BP-II) has different characteristics from bipolar I disorder (BP-I), not only in manic severity but also in clinical features, prior course, comorbidity, and family history, sufficiently enough to provide its nosological separation from BP-I.
Ji Hyun Baek; Dong Yeon Park; Jungmi Choi; Ji Sun Kim; Ji Sun Choi; Kyooseob Ha; Jun Soo Kwon; Dongsoo Lee; Kyung Sue Hong
Posttraumatic ulnar neuropathy versus non-traumatic cubital tunnel syndrome: Clinical features and response to surgery
Summary The outcome of 53 patients operated on either for posttraumatic ulnar neuropathy (PUN) or non-traumatic cubital tunnel syndrome (CTS) was reviewed after 3 years follow-up. Results were analyzed and compared considering the surgical technique used (neurolysis versus anterior transposition or combined) and a variety of clinical features that could influence outcome after nerve release. In the whole series, excellent
C. Barrios; C. Ganoza; J. de Pablos; J. Cafiadell
Aromatic L-Amino Acid Decarboxylase Deficiency: Clinical Features, Diagnosis, and Treatment of a Second Family
Aromatic L-amino acid decarboxylase deficiency is an inborn error of metabolism that leads to combined serotonin and catecholamine deficiency, first described by Hyland et al in 1990. The clinical features, biochemical findings, and treatment of the second family with this condition are reported. Our male patient presented with developmental delay, extreme hypotonia, oculogyric crises, and irritability. The diagnosis of this
Alfreda Maller; Keith Hyland; Sheldon Milstien; Italo Biaggioni; Ian J. Butler
Clinical features and neuroradiological findings of mitochondrial pathology in six neonates
Objects. We hoped to itemize the clinical and neuroradiological features of six neonates with mitochondrial disorders. Methods. We examined a case series of six neonates. The diagnosis of mitochondrial cytopathy was made on the basis of spectrophotometric measurements of respiratory chain enzyme activities in skeletal muscle biopsy specimens. Magnetic resonance (MR) imaging was performed in all cases. Conclusions. The antenatal
C. Gire; N. Girard; C. Nicaise; M. A. Einaudi; M. F. Montfort; J. M. Dejode
Animal-type melanoma: clinical and dermoscopic features of 3 cases.
Animal-type melanoma is a rare variant of malignant melanoma in humans. Although many patients develop locoregional and distant metastases, mortality is lower than in other types of melanoma. We present 3 cases of animal-type melanoma in elderly men and include a description of common clinical and dermoscopic features (homogeneous blue pattern, irregular whitish structures, and irregular large vessels). PMID:23083691
Avil�s-Izquierdo, J A; Leis-Dosil, V M; L�zaro-Ochaita, P
Subclinical Cushing's Syndrome in Patients with Adrenal Incidentaloma: Clinical and Biochemical Features
Incidentally discovered adrenal masses are mostly benign, asymp- tomatic lesions, often arbitrarily considered as nonfunctioning tu- mors. Recent studies, however, have reported increasing evidence that subtle cortisol production and abnormalities in the hypothalam- ic-pituitary-adrenal (HPA) axis are more frequent than previously thought. The purpose of this study was to investigate the clinical and hormonal features of patients with incidentally discovered
R. Rossi; L. TAUCHMANOVA; A. LUCIANO; M. DI MARTINO; C. BATTISTA; L. DEL VISCOVO; V. NUZZO; G. LOMBARDI
Primary Care Clinic-Based Chronic Disease Care: Features of Successful Programs
Objective: To identify common features of primary care clinics that have successfully achieved improvement in chronic disease care. Methods: We analyzed seven primary care practices that have achieved significant improvement in chronic disease care provided to adults with diabetes mellitus, hypertension, lipid disorders, or heart disease. Strategies used to improve care were mapped across categories of the Enhanced Primary Care
Patrick J. OConnor; JoAnn M. Sperl-Hillen; Nicolaas P. Pronk; Terry Murray
Incidence, Clinical Features and Subtypes of Delirium in Elderly Patients Treated for Hip Fractures
Objective: To describe the incidence, risk factors and clinical features (subtypes) of delirium during the postoperative period after hip fracture surgery in elderly patients. Design: Prospective study. Methods: Thirty-four consecutive patients (9 men and 25 women) were included in this study between June 16 to July 14, 2003. All patients underwent surgery for a fractured neck of femur and were
Franklin Santana Santos; Lars Olof Wahlund; Ferid Varli; Irineu Tadeu Velasco; Maria Eriksdotter J�nhagen
Guidelines for reporting clinical features in cases with MECP2 mutations
An international group recommends that papers relating phenotypes to genotypes involving mutations in the X chromosome gene MECP2 should provide a minimum data set reporting the range of disturbances frequently encountered in Rett Syndrome. A simple scoring system is suggested which will facilitate comparison among the various clinical profiles. Features are described which should prompt screening for MECP2 mutations.
Alison M. Kerr; Yoshiko Nomura; Dawna Armstrong; Maria Anvret; Pavel V. Belichenko; Sarojini Budden; Hilary Cass; John Christodoulou; Angus Clarke; Carolyn Ellaway; Maurizio d'Esposito; Uta Francke; Maj Hulten; Peter Julu; Helen Leonard; Sakkubai Naidu; Carolyn Schanen; Tessa Webb; Ingegerd Witt Engerstrom; Yushiro Yamashita; Masaya Segawa
Combining Clinical, Sonographic, and Elastigraphic Features to Improve the Detection of Prostate Cancer.
National Technical Information Service (NTIS)
The ultimate goal of this project is to combine features derived from ultrasound (US) images, US radio-frequency (RE) data, tissue elasticity imaging, and clinical data such as PSA into a computerized system for displaying prostate images that indicate pr...
B. S. Garra
Diverticulitis of the cecum and right colon: Clinical and radiographic features
Eighteen cases of cecal and right colon diverticulitis have been presented. The clinical features, radiologic aspects, and modes of treatment have been emphasized. This series does not support the common concept that most diverticula of the cecum are solitary. The application of careful and repeated barium enema studies and detailed pathologic studies of specimens is urged to elucidate further the
Adolfo Schapira; Julius J. Leichtling; Bernard S. Wolf; Richard H. Marshak; Henry D. Janowitz
Onychomycosis caused by nondermatophytic molds: Clinical features and response to treatment of 59 cases
Background: Nail invasion by nondermatophytic molds (NDM) is considered uncommon with prevalence rates ranging from 1.45% to 17.6%. Objective: We report the clinical features and response to treatment of onychomycosis caused by these molds. Methods: From 1995 through 1998 we performed a mycologic study on 1548 patients affected by nail disorders, and we diagnosed 431 cases of onychomycosis including 59
Antonella Tosti; Bianca Maria Piraccini; Sandra Lorenzi
Clinical and histological features of delta infection in chronic hepatitis B virus carriers
One hundred and six consecutive chronic hepatitis B virus (HBV) carriers were studied for the prevalence of delta markers in serum and tissue, and the clinical and histological features of those with and without delta infection were compared. Twenty (18.9%) patients were positive for anti-delta in serum or delta antigen in the liver or both. They presented at a younger
A S Lok; I Lindsay; P J Scheuer; H C Thomas
Combining Clinical, Sonographic and Elastigraphic Features to Improve the Detection of Prostate Cancer.
National Technical Information Service (NTIS)
The ultimate goal of this project is to combine features derived from ultrasound (US) images, US radio-frequency (RF) data, tissue elasticity imaging, and clinical data such as PSA into a computerized system for displaying prostate images that indicate pr...
B. S. Garra
Clinical and ultrasonographic features of abdominal tuberculosis in HIV positive adults in Zambia
Background The diagnosis of abdominal tuberculosis (TB) is difficult, especially so in health care facilities in developing countries where laparoscopy and colonoscopy are rarely available. There is little information on abdominal TB in HIV infection. We estimated the prevalence and clinical features of abdominal (excluding genitourinary) TB in HIV infected adults attending the University Teaching Hospital, Zambia. Methods We screened 5,609 medical inpatients, and those with fever, weight loss, and clinical features suggestive of abdominal pathology were evaluated further. A clinical algorithm was used to specify definitive investigations including laparoscopy or colonoscopy, with culture of biopsies and other samples. Results Of 140 HIV seropositive patients with these features, 31 patients underwent full evaluation and 22 (71%) had definite or probable abdominal TB. The commonest presenting abdominal features were ascites and persistent tenderness. The commonest ultrasound findings were ascites, para-aortic lymphadenopathy (over 1 cm in size), and hepatomegaly. Abdominal TB was associated with CD4 cell counts over a wide range though 76% had CD4 counts <100 cells/?L. Conclusion The clinical manifestations of abdominal TB in our HIV-infected patients resembled the well-established pattern in HIV-uninfected adults. Patients with fever, weight loss, abdominal tenderness, abdominal lymphadenopathy, ascites and/or hepatomegaly in Zambia have a high probability of abdominal TB, irrespective of CD4 cell count.
Immunohistochemical detection of female sex hormone receptors in craniopharyngiomas: correlation with clinical and histologic features
BackgroundAlthough craniopharyngiomas have a histologically benign nature, their treatment can be difficult. The correlation among clinical, proliferative, and immunohistologic features of female sex hormone receptors was determined in craniopharyngiomas to analyze whether they influence the growth of the tumor.
Shuichi Izumoto; Tsuyosi Suzuki; Manabu Kinoshita; Tetsuo Hashiba; Naoki Kagawa; Kouichi Wada; Yasunori Fujimoto; Naoya Hashimoto; Youichi Saitoh; Motohiko Maruno; Toshiki Yoshimine
Pure infradiaphragmatic Hodgkin's lymphoma. Clinical features, prognostic factors and comparison with supradiaphragmatic disease
Background and Objectives. Pure infradiaphragmatic Hodgkin's lymphoma (HL) is a rare disease. The prognostic impact of a purely infradiaphragmatic localization of this lym- phoma is controversial. We aimed to evaluate the baseline clinicopathologic features, prognostic factors and outcome of a large series of consecutive patients with pure infradiaphragmatic HL. Design and Methods. We analyzed 131 patients with clinical stage I\\/II
Theodoros P. Vassilakopoulos; Maria K. Angelopoulou; Marina P. Siakantaris; Nikos Konstantinou; Argyrios Symeonidis; Themistoklis Karmiris; Panayiotis Repoussis; Paraskevi Roussou; Athanassios Meletios Dimopoulos; Styliani I. Kokoris; Evangelia M. Dimitriadou; Marie-Christine Kyrtsonis; Maria N. Dimopoulou; Constantinos Tsatalas; Garyfallia Kokkinis; Effimia Vrakidou; Vassiliki Grigoraki; Christos Poziopoulos; Marina Stamatellou; Dimitra Liapis
Non-convulsive status epilepticus: usefulness of clinical features in selecting patients for urgent EEG
Background: Non-convulsive status epilepticus (NCSE) is status epilepticus without obvious tonic�clonic activity. Patients with NCSE have altered mental state. An EEG is needed to confirm the diagnosis, but obtaining an EEG on every patient with altered mental state is not practical. Objective: To determine whether clinical features could be used to predict which patients were more likely to be in NCSE and thus in need of an urgent EEG. Methods: Over a six month period, all patients for whom an urgent EEG was ordered to identify NCSE were enrolled. Neurology residents examined the patients and filled out a questionnaire without knowledge of the EEG results. The patients were divided into two groups, NCSE and non-NCSE, depending on the EEG result. The clinical features were compared between the two groups. The sensitivity and specificity of the features were calculated. Results: 48 patients were enrolled, 12 in NCSE and 36 not in NCSE. Remote risk factors for seizures, severely impaired mental state, and ocular movement abnormalities were seen significantly more often in the NCSE group. The combined sensitivity of remote risk factors for seizures and ocular movement abnormalities was 100%. Conclusions: There are certain clinical features that are more likely to be present in patients in NCSE compared with other types of encephalopathy. Either remote risk factors for seizures or ocular movement abnormalities were seen in all patients in NCSE. These features may be used to select which patients should have an urgent EEG.
Husain, A; Horn, G; Jacobson, M
Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation
PURPOSE: To report ocular findings in the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) in a family with the A to G 3243 mitochondrial (mt) DNA point mutation.METHODS: Case reports. Ocular findings are described from four family members with the MELAS associated A to G 3243 mt DNA point mutation.RESULTS: Findings included ophthalmoplegia, neurosensory deafness, reduction of photopic
Paul Latkany; Thomas A. Ciulla; Paul Cucchillo; Marc D. Malkoff
Infantile Hepatic Hemangioendothelioma in Comparison with Hepatoblastoma in Children: Clinical and Ultrasound Features
Background Infantile hepatic hemangioendothelioma (IHH) and hepatoblastoma (HBL) are respectively the most common benign and malignant liver tumors in children. Objectives To study the clinical manifestations and the ultrasound features of the pediatric patients for distinguishing IHH from HBL. Patients and Methods Between 2002 and 2012, thirteen children with IHH and 38 children with HBL under the age of 10 years were included. We retrospectively reviewed the clinical and the ultrasound features of the two groups, especially including parameters as follows: age at diagnosis, gender, alpha-fetoprotein (AFP) elevation, venous involvement and Doppler ultrasound. Results Compared with HBL group, the age of IHH group was much younger (5.8 months vs. 35.1 months, P = 0.000), the AFP elevation was less likely to be detected in IHH group (23.1% vs. 89.5%, P = 0.000). Although the color flow were the same commonly observed (61.5% vs. 52.6%, P > 0.05), the spectral Doppler showed IHH was less likely to appear as arterial flow with resistance index (RI) > 0.7(12.5% vs. 75.0%, P < 0.05), characterized by arterial flow with RI < 0.7 and/or venous flow. Combined the clinical features including age (< 6 months) and normal AFP level yielded high capability in differential diagnosis, with sensitivity, specificity and Youden index of 77% (10/13), 95% (36/38), and 0.72, respectively. When combined clinical features (age and AFP) and spectral Doppler as the diagnostic criterion for distinguishing these cases with positive color flow signals, the sensitivity, specificity, accuracy and Youden Index were 88%, 95%, 89% and 0.83, respectively. Conclusions The clinical features are effective indicators for distinguishing IHH from HBL, and the spectral Doppler may be a useful adjunct parameter for differential diagnosis.
Pan, Fu-shun; Xu, Ming; Wang, Wei; Zhou, Lu-yao; Xie, Xiao-yan
Clinical findings and imaging features of 67 nasopharyngeal carcinoma patients with postradiation nasopharyngeal necrosis
Postradiation nasopharyngeal necrosis is an important late effect of radiotherapy that affects prognosis in patients with nasopharyngeal carcinoma. In the present study, we reviewed the clinical and imaging features of 67 patients with pathologically diagnosed postradiation nasopharyngeal necrosis who were treated at Sun Yat-sen University Cancer Center between June 2006 and January 2010. Their clinical manifestations, endoscopic findings, and imaging features were analyzed. Early nasopharyngeal necrosis was limited to a local site in the nasopharyngeal region, and the tissue defect was not obvious, whereas deep parapharyngeal ulcer or signs of osteoradionecrosis in the basilar region was observed in serious cases. Those with osteoradionecrosis and/or exposed carotid artery had a high mortality. In conclusion, Postradiation nasopharyngeal necrosis has characteristic magnetic resonance imaging appearances, which associate well with clinical findings, but pathologic examination is essential to make the diagnosis.
Chen, Ming-Yuan; Mai, Hai-Qiang; Sun, Rui; Guo, Xiang; Zhao, Chong; Hong, Ming-Huang; Hua, Yi-Jun
Clinical Features and Surgical Results of Cervical Myelopathy Caused by Soft Disc Herniation
Objective There are many causes of cervical myelopathy including trauma, degenerative conditions, tumors and demyelinating disorders. However, myelopathy caused by soft disc herniation might be seen rarely than the spondylosis caused by hard disc. Here, authors retrospectively analyzed the clinical features and results of cervical myelopathy caused by soft disc herniation. Methods From March 2010 to December 2010, 134 patients with degenerative cervical spinal disease were treated with anterior cervical discectomy and interbody fusion. Among them, 21 patients with cervical myelopathy secondary to cervical soft disc herniation were analyzed. Their clinical features, preoperative and, postoperative clinical results were evaluated by Nurick Grade and Japanese Orthopaedic Association scale (JOA) retrospectively. Preoperative clinical features including duration of myelopathy, pain intensity and postoperative clinical results including improvement rate of myelopathy and radiculopathy were retrospectively analyzed by Nurick Grade and JOA scale. We also evaluated correlation between the duration of symptom, type of the disc herniation, pain intensity and clinical outcome. Results Mean age was 49.7 and male was predominant. Gait disturbance with mild to moderate pain was most common symptom in clinical features. Severe pain was shown in only 9 cases, and the other 12 cases experienced mild to moderate pain. Mean duration of myelopathy was 1.18 month. The mean JOA scores were 11.22 before surgery and 14.2 after surgery. The mean Nurick grades were 2.78 before treatment and 1.67 after treatment. Neurologic status of mild or moderate pain group on preoperative state is worse than that of severe pain group. The patients with duration of myelopathy symptom (<1 month) showed lower clinical improvement rate than the patients with myelopathy over 1 month. Patients with median type of disc herniation showed poorer neurological status than those with paramedian type of herniation in preoperative state. Conclusion Authors reviewed the clinical features and surgical outcome of the cervical myelopathy secondary to cervical soft disc herniation. We presumed that patients of more than one month of symptom duration, mild to moderate initial symptom would be related with better postoperative improvement rate.
Park, Sung Joo; Kim, Min Ki; Lee, Sung Ho; Oh, In Ho
Subgingival microbial consortia and the clinical features of periodontitis in adolescents.
This study aimed to investigate the association between microbial consortia and the clinical features of periodontitis using a multilevel modeling approach. A total of 958 sites in 87 adolescents with periodontitis (cases) and 73 controls were microbiologically sampled and clinically examined. Associations between each of the clinical parameters clinical attachment, probing depth, supragingival plaque, calculus, bleeding on probing, and each of 18 bacterial species; and between the same clinical parameters and each of two microbial consortia identified, were investigated using mixed-effects regression modeling. Higher counts of Tannerella forsythia, Campylobacter rectus, and Porphyromonas gingivalis were all statistically significantly associated with higher values of clinical attachment level, probing depth, and bleeding on probing in the sampled site, when both case status and between-subject variance were accounted for. Higher counts for the consortium comprising the putative periodontopathogens were statistically significantly associated in a dose-response manner with both higher clinical attachment levels and with increased pocket depth. The counts for the consortium predominantly comprising the early-colonizer species were statistically significantly negatively associated with the presence of supragingival calculus, but positively associated with the presence of supragingival plaque. The study demonstrates a relationship between the counts of putative periodontopathogens and clinical attachment levels and probing pocket depths, even for low levels of these clinical parameters. PMID:22112031
L�pez, Rodrigo; Dahl�n, Gunnar; Baelum, Vibeke
Diffusion and Perfusion Characteristics of MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episode) in Thirteen Patients
Objective We analyzed the diffusion and perfusion characteristics of acute MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode) lesions in a large series to investigate the controversial changes of the apparent diffusion coefficient (ADC) that were reported in prior studies. Materials and Methods We analyzed 44 newly appearing lesions during 28 stroke-like episodes in 13 patients with MELAS. We performed a visual assessment of the MR images including the ADC and perfusion maps, comparison of the ADC between the normal and abnormal areas, comparison of % ADC between the 44 MELAS lesions and the 30 acute ischemic infarcts. In addition, the patterns of evolution on follow-up MR images were analyzed. Results Decreased, increased, and normal ADCs were noted in 16 (36%), 16 (36%), and 12 (27%) lesions, respectively. The mean % ADC was 102 � 40.9% in the MELAS and 64 � 17.8% in the acute vascular infarcts (p < 0.001), while perfusion imaging demonstrated hyper-perfusion in six acute MELAS lesions. On follow-up images, resolution, progression, and tissue loss were noted in 10, 4, and 17 lesions, respectively. Conclusion The cytotoxic edema gradually evolves following an acute stroke-like episode in patients with MELAS, and this may overlap with hyper-perfusion and vasogenic edema. The edematous swelling may be reversible or it may evolve to encephalomalacia, suggesting irreversible damage.
Kim, Ji Hye; Jeon, Tae Yeon; Rha, Jung Ho; Eo, Hong; Yoo, So-Young; Shu, Chang Hae
Socio-demographic, Clinical and Laboratory Features of Rotavirus Gastroenteritis in Children Treated in Pediatric Clinic
Aim: The aim of work was presentation of several socio-demographic, clinical and laboratory characteristics of gastroenteritis caused by rotavirus. The examinees and methods: The examinees were children under the age of five years treated at the Pediatric Clinic due to acute gastroenteritis caused by rotavirus. Rotavirus is isolated by method chromatographic immunoassay by Cer Test Biotec. Results: From the total number of patients (850) suffering from acute gastroenteritis, feces test on bacteria, viruses. protozoa and fungi was positive in 425 (49.76%) cases. From this number the test on bacteria was positive in 248 (58.62%) cases, on viruses it was positive in 165 (39.0%), on protozoa in 9 (2.12%) cases and on fungi only one case. Rotavirus was the most frequent one in viral test, it was isolated in 142 (86.06%) cases, adenoviruses were found in 9 (5.45%) cases and noroviruses in only one case. The same feces sample that contained rotavirus and adenoviruses were isolated in five cases, whereas rotavirus with bacteria was isolated in the same feces sample in five cases. The biggest number of cases 62 (43.66%) were of the age 6-12 months, whereas the smallest number 10 (7.04%) cases were of the age 37-60 months. There were 76 (53.52%) of cases of male gender, from rural areas there were 81 (57.04%) cases and there were 58 (40.80%) cases during the summer period. Among the clinical symptoms the most prominent were diarrhea, vomiting, high temperature, whereas the different degree of dehydration were present in all cases (the most common one was moderate dehydration). The most frequent one was isonatremic dehydration in 91 (64.08%) cases, less frequent one was hypernatremic dehydration in 14 (9.85%) cases. The majority of cases (97.89%) had lower blood pH values, whereas 67 (47.17%) cases had pH values that varied from 7.16 -7.20 (curve peak), normal values were registered in only 3 (2.11%) cases. Urea values were increased in 45 (31.07%) cases (the maximum value was 26.5 mmol/L), whereas creatinine value was increased in 41 (28.87%) cases (maximum value was 302 mmol/L). Conclusion: The results show the high frequency of rotavirus infections in children hospitalized with acute gastroenteritis. Rotavirus may cause different dehydration degree with electrolyte, acid-base and other biochemical disorders. Preventing the infection caused by rotavirus is of a great importance.
Azemi, Mehmedali; Berisha, Majlinda; Ismaili-Jaha, Vlora; Kolgeci, Selim; Avdiu, Muharrem; Jakupi, Xhevat; Hoxha, Rina; Hoxha-Kamberi, Teuta
Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.
Myotonia congenita (MC) is a form of nondystrophic myotonia caused by a mutation of CLCN1, which encodes human skeletal muscle chloride channel (CLC-1). We performed sequence analysis of all coding regions of CLCN1 in patients clinically diagnosed with MC, and identified 10 unrelated Korean patients harboring mutations. Detailed clinical analysis was performed in these patients to identify their clinical characteristics in relation to their genotypes. The CLCN1 mutational analyses revealed nine different point mutations. Of these, six (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, and p.M609K) were novel and could be unique among Koreans. While some features including predominant lower extremity involvement and normal to slightly elevated creatine kinase levels were consistently observed, general clinical features were highly variable in terms of age of onset, clinical severity, aggravating factors, and response to treatment. Our study is the first systematic study of MC in Korea, and shows its expanding clinical and genetic spectrums. PMID:19949657
Moon, In-Soo; Kim, Hyang-Sook; Shin, Jin-Hong; Park, Yeong-Eun; Park, Kyu-Hyun; Shin, Yong-Bum; Bae, Jong Seok; Choi, Young-Chul; Kim, Dae-Seong
Novel CLCN1 Mutations and Clinical Features of Korean Patients with Myotonia Congenita
Myotonia congenita (MC) is a form of nondystrophic myotonia caused by a mutation of CLCN1, which encodes human skeletal muscle chloride channel (CLC-1). We performed sequence analysis of all coding regions of CLCN1 in patients clinically diagnosed with MC, and identified 10 unrelated Korean patients harboring mutations. Detailed clinical analysis was performed in these patients to identify their clinical characteristics in relation to their genotypes. The CLCN1 mutational analyses revealed nine different point mutations. Of these, six (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, and p.M609K) were novel and could be unique among Koreans. While some features including predominant lower extremity involvement and normal to slightly elevated creatine kinase levels were consistently observed, general clinical features were highly variable in terms of age of onset, clinical severity, aggravating factors, and response to treatment. Our study is the first systematic study of MC in Korea, and shows its expanding clinical and genetic spectrums.
Moon, In-Soo; Kim, Hyang-Sook; Shin, Jin-Hong; Park, Yeong-Eun; Park, Kyu-Hyun; Shin, Yong-Bum; Bae, Jong Seok; Choi, Young-Chul
Background Basal cell carcinoma (BCC) is the most commonly diagnosed cancer in the United States. In this research, we examine four different feature categories used for diagnostic decisions, including patient personal profile (patient age, gender, etc.), general exam (lesion size and location), common dermoscopic (blue-gray ovoids, leaf-structure dirt trails, etc.), and specific dermoscopic lesion (white/pink areas, semitranslucency, etc.). Specific dermoscopic features are more restricted versions of the common dermoscopic features. Methods Combinations of the four feature categories are analyzed over a data set of 700 lesions, with 350 BCCs and 350 benign lesions, for lesion discrimination using neural network-based techniques, including Evolving Artificial Neural Networks and Evolving Artificial Neural Network Ensembles. Results Experiment results based on ten-fold cross validation for training and testing the different neural network-based techniques yielded an area under the receiver operating characteristic curve as high as 0.981 when all features were combined. The common dermoscopic lesion features generally yielded higher discrimination results than other individual feature categories. Conclusions Experimental results show that combining clinical and image information provides enhanced lesion discrimination capability over either information source separately. This research highlights the potential of data fusion as a model for the diagnostic process.
Cheng, Beibei; Stanley, R. Joe; Stoecker, William V; Stricklin, Sherea M.; Hinton, Kristen A.; Nguyen, Thanh K.; Rader, Ryan K.; Rabinovitz, Harold S.; Oliviero, Margaret; Moss, Randy H.
Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features
Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a tall-appearing 17-year-old boy with marfanoid habitus, hypermobile joints, mild scoliosis, pectus deformity, widely spaced nipples, pes cavus, autism spectrum disorder, intellectual disability, and psychiatric manifestations including physical and verbal aggression, obsessive-compulsive behaviors, and oppositional defiance. An echocardiogram showed borderline increased aortic root size. An abdominal ultrasound revealed a small pancreas, mild splenomegaly with a 1.3?cm accessory splenule, and normal kidneys and liver. A testing panel for Marfan, aneurysm, and related disorders was negative. Subsequently, a 400?K array-based comparative genomic hybridization (aCGH) + SNP analysis was performed which identified a de novo suspected pathogenic deletion on chromosome 17q12 encompassing 28 genes. Despite the limited number of cases described in the literature with 17q12 rearrangements, our proband's phenotypic features both overlap and expand on previously reported cases. Since syndrome-specific DNA sequencing studies failed to provide an explanation for this patient's unusual habitus, we postulate that this case represents an expansion of the 17q12 microdeletion phenotype. Further analysis of the deleted interval is recommended for new genotype-phenotype correlations.
Roberts, Jennifer L.; Gandomi, Stephanie K.; Parra, Melissa; Lu, Ira; Gau, Chia-Ling; Dasouki, Majed; Butler, Merlin G.
Clinical report of a 17q12 microdeletion with additionally unreported clinical features.
Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a tall-appearing 17-year-old boy with marfanoid habitus, hypermobile joints, mild scoliosis, pectus deformity, widely spaced nipples, pes cavus, autism spectrum disorder, intellectual disability, and psychiatric manifestations including physical and verbal aggression, obsessive-compulsive behaviors, and oppositional defiance. An echocardiogram showed borderline increased aortic root size. An abdominal ultrasound revealed a small pancreas, mild splenomegaly with a 1.3?cm accessory splenule, and normal kidneys and liver. A testing panel for Marfan, aneurysm, and related disorders was negative. Subsequently, a 400?K array-based comparative genomic hybridization (aCGH) + SNP analysis was performed which identified a de novo suspected pathogenic deletion on chromosome 17q12 encompassing 28 genes. Despite the limited number of cases described in the literature with 17q12 rearrangements, our proband's phenotypic features both overlap and expand on previously reported cases. Since syndrome-specific DNA sequencing studies failed to provide an explanation for this patient's unusual habitus, we postulate that this case represents an expansion of the 17q12 microdeletion phenotype. Further analysis of the deleted interval is recommended for new genotype-phenotype correlations. PMID:24991439
Roberts, Jennifer L; Gandomi, Stephanie K; Parra, Melissa; Lu, Ira; Gau, Chia-Ling; Dasouki, Majed; Butler, Merlin G
Computational phenotype discovery using unsupervised feature learning over noisy, sparse, and irregular clinical data.
Inferring precise phenotypic patterns from population-scale clinical data is a core computational task in the development of precision, personalized medicine. The traditional approach uses supervised learning, in which an expert designates which patterns to look for (by specifying the learning task and the class labels), and where to look for them (by specifying the input variables). While appropriate for individual tasks, this approach scales poorly and misses the patterns that we don't think to look for. Unsupervised feature learning overcomes these limitations by identifying patterns (or features) that collectively form a compact and expressive representation of the source data, with no need for expert input or labeled examples. Its rising popularity is driven by new deep learning methods, which have produced high-profile successes on difficult standardized problems of object recognition in images. Here we introduce its use for phenotype discovery in clinical data. This use is challenging because the largest source of clinical data - Electronic Medical Records - typically contains noisy, sparse, and irregularly timed observations, rendering them poor substrates for deep learning methods. Our approach couples dirty clinical data to deep learning architecture via longitudinal probability densities inferred using Gaussian process regression. From episodic, longitudinal sequences of serum uric acid measurements in 4368 individuals we produced continuous phenotypic features that suggest multiple population subtypes, and that accurately distinguished (0.97 AUC) the uric-acid signatures of gout vs. acute leukemia despite not being optimized for the task. The unsupervised features were as accurate as gold-standard features engineered by an expert with complete knowledge of the domain, the classification task, and the class labels. Our findings demonstrate the potential for achieving computational phenotype discovery at population scale. We expect such data-driven phenotypes to expose unknown disease variants and subtypes and to provide rich targets for genetic association studies. PMID:23826094
Lasko, Thomas A; Denny, Joshua C; Levy, Mia A
Recurrent Wernicke's Encephalopathy in a 16-Year-Old Girl with Atypical Clinical and Radiological Features
Background. Wernicke's Encephalopathy (WE) is a clinical diagnosis with serious neurological consequences. Its occurrence is underestimated in nonalcoholics and is uncommon in adolescents. We aim to draw the attention to a rare case, which had additional clinical and radiological features. Case. A 16-year-old girl presented with three-week history of vomiting secondary to intestinal obstruction. She developed diplopia soon after hospitalization. Neurological evaluation revealed restriction of bilateral lateral recti with horizontal nystagmus, and bilateral limb dysmetria. Brain MRI was normal. She had prompt improvement to thiamine. Four months later, she presented with headache, bilateral severe deafness, and tinnitus. Clinically, she had severe sensorineural hearing loss, bilateral lateral recti paresis, and gait ataxia. CT head showed bilateral caudate nucleus hypodensities. MRI brain revealed gadolinium enhancement of mamillary bodies and vermis. She had significant improvement after IV thiamine. Headache completely resolved while the ocular movements, hearing, and tinnitus improved partially in 72 hours. Conclusions. Recurrent WE in adolescence is uncommon. Headache, tinnitus, and deafness are rare clinical features. Although MRI study shows typical features of WE, the presence of bilateral caudate nuclei hypodensities on CT scan is uncommon. Prompt treatment with thiamine is warranted in suspected cases to prevent permanent neurological sequelae.
Lamdhade, S.; Almulla, A.; Alroughani, R.
Evaluation of haptoglobin phenotypes in association with clinical features of patients suffered from preterm labor disease.
Preterm birth means the birth before thirty seven week of pregnancy that causes a lot of complications for the baby. Variety factors are suggested to be involved in disease. In this study, we decided to evaluate haptoglobin (Hp) phenotypes association with clinical features of patients suffered from premature delivery to understand better the possible correlation of genetic and clinical features in this disease. This cross-sectional analytic descriptive study has been carried out in two groups of 120 women, 60 with preterm and 60 with term labor. Patients were selected with previously diagnosed by gynecologist with preterm birth in the labor during the study period. After performing diagnostic tests, the frequency of each haptoglobin phenotype in the two groups was analyzed using the Chi-square test (X2) test and SPSS software. The maximum serum haptoglobin phenotype frequency in patients with Hp2-2, was 43 (71.7%) whereas in healthy individuals, 35 (58.3%). No, statistically significant differences between the two groups were found (p=0.310). But based on some patients clinical features such as their history of preterm delivery, previous history of recurrent abortions and history of preterm delivery in their family, significant association was found with Hp2-2 compared with healthy control (p<0.003). This study showed that Hp2-2 phenotypes levels in the case group was higher than in control but the factors influencing the presence or absence of preterm labor is clinically various. PMID:24659066
Khazaei, Hossein Ali; Teymuri, Batoul; Nakhaei, Alireza; Mohammadi, Mehdi; Noura, Mehrangeez; Khazaei, Amin; Tofigh, Neda; Rezaei, Nima
Association of haptoglobin phenotypes with clinical features of preterm labor disease.
Preterm birth means the birth before thirty seven week of pregnancy that causes a lot of complications for the baby. Variety factors are suggested to be involved in disease. In this study, we decided to evaluate haptoglobin (Hp) phenotypes association with clinical features of patients suffered from premature delivery to understand better the possible correlation of genetic and clinical features in this disease. This cross sectional analytic descriptive study has been carried out in two groups of 120 women, 60 with preterm and 60 with term labor. Patients were selected with previously diagnosed by a gynecologist with preterm birth in hospital during the study period. After performing diagnostic tests, the frequency of each haptoglobin phenotype in the two groups was analyzed using the X2 test and SPSS software. The maximum serum haptoglobin phenotype frequency in patients with Hp2-2, was 43 (71.7%) whereas in healthy individuals, 35 (58.3%). No statistically significant differences between the two groups was found (P=0.310). But based on some patients clinical features such as their history of preterm delivery, previous history of recurrent abortions and history of preterm delivery in their family, significant association was found with Hp2-2 compared with healthy control (P<0.003). This study showed that Hp2-2 phenotypes levels in the case group was higher than in control but the factors influencing the presence or absence of preterm labor is clinically various. PMID:24026993
Khazaei, Hossein Ali; Teymuri, Batoul; Nakhaei, Alireza; Mohammadi, Mehdi; Noura, Mehrangeez; Khazaei, Amin; Tofiqh, Neda; Rezaei, Nima
Monitoring pulmonary fibrosis by fusing clinical, physiological, and computed tomography features.
Advances in medical imaging and screening tests have made possible the detection and diagnosis of many diseases in their early stages. Those advances have enabled more effective planning, execution, and monitoring of a treatment plan. However, early detection has also resulted in an increase of the number of longitudinal radiographs requested for most patients, thus increasing the risk for potential long-term effects of ionizing radiation exposure and increasing the cost associated with a specific treatment plan. The aim of this paper is to study the associations between clinical measurements and quantitative image features in patients with pulmonary fibrosis. The association between these multi-modal features could be used to more accurately determine the state of the disease and could potentially be used to predict many of the longitudinal image features when CT images are not available. Our results show how textural image features are highly correlated with the severity of fibrosis, how clinical variables can be combined to monitor progression, and how simple blood features can be used to predict statistical image attributes of the lungs. PMID:22255759
Caban, Jesus J; Yao, Jianhua; Bagci, Ulas; Mollura, Daniel J
Correlation of clinical and molecular features in spinal bulbar muscular atrophy
Objectives: To characterize the clinical and genetic features of spinal bulbar muscular atrophy (SBMA), a rare neurodegenerative disorder caused by the expansion of a CAG repeat in the first exon of the androgen receptor gene, in the United Kingdom. Methods: We created a national register for SBMA in the United Kingdom and recruited 61 patients between 2005 and 2013. In our cross-sectional study, we assessed, by direct questioning, impairment of activities of daily living (ADL) milestones, functional rating, and subjective disease impact, and performed correlations with both CAG repeat size and degree of somatic mosaicism. Ten patients were deceased, 46 patients participated in the study, and 5 declined. Results: Subjects had an average age at onset of 43.4 years, and weakness onset most frequently occurred in the lower limbs (87%). Impaired mobility was the most frequently reported problem by patients, followed by bulbar dysfunction. Age distribution of the impairment of ADL milestones showed remarkable overlap with a Japanese study. We have identified a significant correlation between the number of CAG repeats and both age at onset and ADL milestones. Somatic mosaicism also showed a correlation with CAG expansion size and age at onset. Conclusions: Clinical features in SBMA show a substantial overlap when comparing populations with different genetic backgrounds. This finding has major implications, because multicenter trials will be necessary to obtain sufficient power in future clinical trials. Clinical-genetic correlations are strong in SBMA and should inform any clinical research strategy in this condition.
Nirmalananthan, Niranjanan; Masset, Luc; Skorupinska, Iwona; Collins, Toby; Cortese, Andrea; Pemble, Sally; Malaspina, Andrea; Fisher, Elizabeth M.C.; Greensmith, Linda; Hanna, Michael G.
Clinical features and management of posttraumatic subperiosteal hematoma of the orbit
Traumatic subperiosteal hematoma (SpH) usually presents late, after the initial trauma. It is generally seen in young males. Computed tomography is the best mode of imaging and helps to rule out orbital fracture or associated subdural hematoma. We present the clinical features and management of four patients seen at the orbit clinic with SpH. Management is based on time of presentation, visual acuity and any communicating bleed. The prognosis of traumatic SpH is excellent if treated with an individualized patient approach.
Kim, Usha R; Arora, Vipul; Shah, Akash D; Solanki, Urvashi
[Chlamydial infection of the central nervous system. Laboratory diagnosis and clinic and morphological features].
The paper presents data on the diagnosis, clinical and pathomorphological changes in the central nervous system (CNS) in neurochlamydiasis according to clinical, autoptic, and experimental evidence. It discusses the possible implication of Ch. trachomatis, Ch. pneumoniae, and Ch. psittaci in the development and course of different diseases with CNS involvement: atherosclerosis, vasculitis, multiple sclerosis, Alzheimer's disease, schizophrenia, autism, vegetative state, sequels of perinatal lesions in childhood and adolescence, HIV infection, etc. Considerable attention is paid to the specific features of diagnosis of Chlamydia-induced CNS lesions. Purposeful pathomorphological investigations are shown to be needed. PMID:24745195
Va?nshenker, Iu I; Nuralova, I V; Onishenko, L S
Ink spot lentigo: singular clinical features in a case series of patients.
Ink spot lentigo, also known as reticulated black solar lentigo, is a melanotic macula commonly described in fair-skinned individuals on sun-exposed areas of the body. Clinically it is a darkly pigmented type of solar lentigo; herein the term ink spot lentigo. In contrast to common solar lentigines, ink spot lentigo is reported as a unique lesion. However usually ink spot lentigo appears among several common solar lentigines. We report a series of 5 patients who presented ink spot lentigo with typical dermoscopic pattern but singular clinical features. PMID:24355230
Bottoni, U; Nistic�, S; Amoruso, G F; Schipani, G; Arcidiacono, V; Scali, E; Tassone, P; Greco, M; Amorosi, A
Differences in Clinical Features According to Boryoung and Karp Genotypes of Orientia tsutsugamushi
Background Scrub typhus is an infectious disease caused by Orientia tsutsugamushi. The differences in virulence of O. tsutsugamushi prototypes in humans are still unknown. We investigated whether there are any differences in the clinical features of the Boryoung and Karp genotypes. Methodology/Principal Findings Patients infected with O. tsutsugamushi, as Boryoung and Karp clusters, who had visited 6 different hospitals in southwestern Korea were prospectively compared for clinical features, complications, laboratory parameters, and treatment responses. Infected patients in the Boryoung cluster had significantly more generalized weakness, eschars, skin rashes, conjunctival injection, high albumin levels, and greater ESR and fibrinogen levels compared to the Karp cluster. The treatment response to current antibiotics was significantly slower in the Karp cluster as compared to the Boryoung cluster. Conclusion The frequency of occurrence of eschars and rashes may depend on the genotype of O. tsutsugamushi.
Yun, Na Ra; Neupane, Ganesh Prasad; Shin, Sung Heui; Ryu, So Yeon; Wie, Seong Heon; Kim, Woo Jin; Lee, Chang Youl; Choi, Jong Soo; Yang, Tae Young
Clinical, diagnostic and therapeutic features of keratocystic odontogenic tumors: a review.
Keratocystic odontogenic tumors (KCOTs) are benign but locally aggressive lesions of the gnathic skeleton with high propensity to recur following surgical treatment. High proliferative activity of KCOTs epithelial cells is considered as one of the factors contributing to their aggressive clinical behavior. Aggressive growth within the jaws, tendency to invade surrounding anatomical structures and occasional malignant alteration are the features that distinguish KCOTs from other types of odontogenic tumors. Due to their unique clinical and biological features, KCOTs still present an important problem in oral and maxillofacial surgery. This is especially true when a choice of the most appropriate treatment modality should be made. Establishing balance between effective reduction of recurrence risk and selection of a less aggressive surgical procedure is an issue that should be carefully considered for each individual patient. PMID:22740199
Jurisic, M; Andric, M; dos Santos, J N; Jurisic, V
Sclerema neonatorum: a review of nomenclature, clinical presentation, histological features, differential diagnoses and management
Objective:To review published literature on sclerema neonatorum (SN) in order to clarify its clinical presentation, histological features and management compared with two other diseases: subcutaneous fat necrosis of the newborn (SCFN) and scleredema.Study Design:PubMed database was searched using the key words Sclerema neonatorum. A total of 55 articles from peer-reviewed journals were reviewed and summarized.Result:SN, SCFN and scleredema are diseases
A Zeb; G L Darmstadt
Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion
We report the clinical features in 27 Australasian patients with Angelman syndrome (AS), all with a DNA deletion involving chromosome 15(q11-13), spanning markers from D15S9 to D15S12, about 3 center dot 5 Mb of DNA. There were nine males and 18 females. All cases were sporadic. The mean age at last review (end of 1994) was 11 center dot 2
A Smith; C Wiles; E Haan; J McGill; G Wallace; J Dixon; R Selby; A Colley; R Marks; R J Trent
Etiology, Clinical Features and Outcome of Splenic Microabscesses in HIV-Infected Patients with Prolonged Fever
A prospective study was conducted to determine the etiology, clinical features, and outcome in a series of 32 consecutively\\u000a enrolled HIV-infected patients with prolonged fever in whom high resolution (7.5?Mhz) sonography revealed multiple splenic\\u000a microabscesses. Conventional (3.5?Mhz) sonography showed no splenic abnormalities in any patients. The diagnoses were: tuberculosis\\u000a (14), visceral leishmaniasis (7), disseminated Mycobacterium avium complex infection (5), Salmonella
M. Bernabeu-Wittel; J. L. Villanueva; J. Pach�n; A. Alarc�n; L. F. L�pez-Cort�s; P. Viciana; F. Cadaval; A. Taleg�n
Radiologic and Clinical Features of Idiopathic Granulomatous Lobular Mastitis Mimicking Advanced Breast Cancer
Idiopathic granulomatous lobular mastitis (IGLM), also known as idiopathic granulomatous mastitis, is a rare chronic inflammatory lesion of the breast that can clinically and radiographically mimic breast carcinoma. The aim of this study was to describe the radiological imaging and clinical features of IGLM in order to better differentiate this disorder from breast cancer. We performed a retrospective analysis of the clinical and radiographic features of 11 women with a total of 12 IGLM lesions. The ages of these women ranged between 29 and 42 years, with a mean age of 34.8 years. Ten patients were examined by both mammography and sonography and one by sonography alone. The sites that were the most frequently involved were the peripheral (6/12), diffuse, (3/12), and subareolar (3/12) regions of the breast. The patient mammograms showed irregular ill-defined masses (7/11), diffuse increased densities (3/11), and one oval obscured mass. In addition, patient sonograms showed irregular tubular lesions (7/12) or lobulated masses with minimal parenchymal distortion (2/12), parenchymal distortion without definite mass lesions (2/12), and one oval mass. Subcutaneous fat obliteration (12/12) and skin thickening (11/12) were also observed in these patients. Contrary to previous reports, skin changes and subareolar involvement were not rare occurrences in IGLM. In conclusion, the sonographic features of IGLM show irregular or tubular hypoechoic masses with minimal parenchymal distortion. Both clinical information and the description of radiographic features of IGLM may aid in the differentiation between IGLM and breast cancer, however histological confirmation is still required for the proper diagnosis and treatment of the disorder.
Lee, Jei Hee; Kim, Eun-kyung; Kwack, Kyu Sung; Jung, Woo Hee; Lee, Han Kyung
The Clinical and Adaptive Features of Young Offenders with Histories of Child-Parent Violence
This study compared the clinical and adaptive features of juvenile offenders (N?=?223) who were violent towards their parents (CPV) with those who had no history of violence against their parents (NCPV).\\u000a These two groups were also examined on demographic data, arrest findings, mental health issues, relationship findings, intellectual\\u000a abilities, and school performance. Youths in the CPV group were more likely
Tom D. Kennedy; William A. Edmonds; Karen T. J. Dann; Kent F. Burnett
Gastric Polyps: A Review of Clinical, Endoscopic, and Histopathologic Features and Management Decisions
The increasing use of endoscopy has led to more discernable abnormalities in the stomach, including polyps. Gastric polyps encompass a spectrum of pathologic conditions that can vary in histology, neoplastic potential, and management. Despite their high prevalence, there is a paucity of literature to support management and treatment decisions for endoscopists. The goal of this review is to summarize clinical, endoscopic, and histopathologic features of various polyps, review syndromes associated with such polyps, and provide management recommendations.
Islam, Rafiul Sameer; Patel, Neal C.; Lam-Himlin, Dora
LRRK2 Mutations in Spanish Patients With Parkinson Disease: Frequency, Clinical Features, and Incomplete Penetrance
Design: We screened patients for the presence of the LRRK2R1441G andG2019S mutations. TheseLRRK2 mu- tations were detected by restriction endonuclease diges- tion, and samples with an abnormal electrophoresis pat- tern were sequenced to identify the exact nucleotide change. The clinical features and family history of pa- tients with LRRK2 mutations were studied in detail. Setting: The northeast region of Spain.
Carles Gaig; Mario Ezquerra; Maria Jose Marti; Esteban Munoz; Francesc Valldeoriola; Eduardo Tolosa
Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index families.
Recently, we reported that mutations in the neuropathy target esterase (NTE) gene cause autosomal recessive motor neuron disease (NTE-MND). We describe clinical, neurophysiologic, and neuroimaging features of affected subjects in the index families. NTE-MND subjects exhibited progressive lower extremity spastic weakness that began in childhood and was later associated with atrophy of distal leg and intrinsic hand muscles. NTE-MND resembles Troyer syndrome, except that short stature, cognitive impairment, and dysmorphic features, which often accompany Troyer syndrome, are not features of NTE-MND. Early onset, symmetry, and slow progression distinguish NTE-MND from typical amyotrophic lateral sclerosis. NTE is implicated in organophosphorus compound-induced delayed neurotoxicity (OPIDN). NTE-MND patients have upper and lower motor neuron deficits that are similar to OPIDN. Motor neuron degeneration in subjects with NTE mutations supports the role of NTE and its biochemical cascade in the molecular pathogenesis of OPIDN and possibly other degenerative neurologic disorders. PMID:21171093
Rainier, Shirley; Albers, James W; Dyck, Peter J; Eldevik, O Petter; Wilcock, Sandra; Richardson, Rudy J; Fink, John K
Solitary rectal ulcer syndrome: Clinical features, pathophysiology, diagnosis and treatment strategies
Solitary rectal ulcer syndrome (SRUS) is an uncommon benign disease, characterized by a combination of symptoms, clinical findings and histological abnormalities. Ulcers are only found in 40% of the patients; 20% of the patients have a solitary ulcer, and the rest of the lesions vary in shape and size, from hyperemic mucosa to broad-based polypoid. Men and women are affected equally, with a small predominance in women. SRUS has also been described in children and in the geriatric population. Clinical features include rectal bleeding, copious mucus discharge, prolonged excessive straining, perineal and abdominal pain, feeling of incomplete defecation, constipation, and rarely, rectal prolapse. This disease has well-described histopathological features such as obliteration of the lamina propria by fibrosis and smooth muscle fibers extending from a thickened muscularis mucosa to the lumen. Diffuse collage deposition in the lamina propria and abnormal smooth muscle fiber extensions are sensitive markers for differentiating SRUS from other conditions. However, the etiology remains obscure, and the condition is frequently associated with pelvic floor disorders. SRUS is difficult to treat, and various treatment strategies have been advocated, ranging from conservative management to a variety of surgical procedures. The aim of the present review is to summarize the clinical features, pathophysiology, diagnostic methods and treatment strategies associated with SRUS.
Zhu, Qing-Chao; Shen, Rong-Rong; Qin, Huan-Long; Wang, Yu
Topographic analysis of laser evoked potentials in chronic tension-type headache: correlations with clinical features.
In the present study, we examined clinical and laser-evoked potentials (LEP) features in a group of chronic tension-type headache (CTTH) patients, in order to perform a topographic analysis of Laser evoked potentials (LEPs) and a correlation with clinical features. Eighteen patients suffering from CTTH [Headache Classification Subcommittee of the International Headache Society. The International Classification of Headache Disorders 2nd ed. Cephalalgia 2004; 24 Suppl 1, 1-159.] participated in the study. Twelve age- and sex-matched controls were also examined. We performed a basal evaluation of clinical features, Total Tenderness Score (TTS) and a topographic analysis of LEPs obtained by the hand and the pericranial points stimulation in all patients vs healthy subjects. The later LEPs, especially the P2 component, were significantly increased in amplitude in the CTTH group, specially when the pericranial points were stimulated. The P2 wave amplitude was correlated with TTS levels and anxiety scores. The results of this study confirm that pericranial tenderness is a phenomenon initiating a self-sustaining circuit, involving central sensitization at the level of the cortical nociceptive areas devoted to attentional and emotional components of pain. PMID:16503063
de Tommaso, Marina; Shevel, Elliott; Pecoraro, Carla; Sardaro, Michele; Losito, Luciana; Lamberti, Paolo; Livrea, Paolo
Epidemiological and clinical features of primary herpes simplex virus ocular infection.
The epidemiological and clinical features of primary herpes simplex virus ocular infection in 108 patients were studied. Of these, 69 (64%) were aged 15 or over and only eight (7%) were under the age of 5. Associated upper respiratory tract infection was found in 38 (35%) patients and systemic disorders such as mild malaise, fever, and aching in 34 (31%) patients. Common symptoms were redness, watering, discharge, itching, irritation, and lid swelling, whereas pain, photophobia, lid vesicles and ulcers, and blurred vision were less frequent. The major signs consisted of vesicles and ulcers on the lids, papillary responses which were more severe in the upper lid conjunctiva, follicles which were more common in the lower lid conjunctiva, fine and coarse epithelial punctate keratitis, and subepithelial punctate keratitis. Dendritic ulcers and disciform keratitis were found in 16 (15%) and two (2%) patients respectively. The clinical forms of primary herpes simplex virus ocular infection varied. Moderate or severe disease was observed in 41 (38%) and 16 (15%) patients respectively. In eight (7%) patients the disease presented as an acute follicular conjunctivitis without characteristic lid or corneal lesions. A chronic blepharoconjunctivitis which lasted for months developed in 16 (15%) patients. The epidemiological and clinical features in our patients were compared with features of the disease reported previously. PMID:3965025
Darougar, S; Wishart, M S; Viswalingam, N D
Susceptibility of black bullhead Ameiurus melas to a panel of ranavirus isolates.
Ranaviruses are considered a serious threat to lower vertebrates, including fish, amphibians and reptiles. However, epidemiological data on these agents are lacking, and further investigations are needed to understand the role of carriers and to update the list of susceptible hosts. We carried out various experimental infections under controlled conditions to contribute to the current knowledge on the susceptibility of black bullhead Ameiurus melas to European catfish virus (ECV) and other ranaviruses. A panel of 7 ranavirus isolates was used to challenge duplicate groups of A. melas juveniles maintained in aquaria supplied with running dechlorinated tap water. The experiments were performed at 15 and 25 degrees C. The results confirmed the high susceptibility of A. melas to ECV infection. Furthermore, a significant mortality associated with the typical signs of systemic viral infections was observed in groups challenged with Epizootic haematopoietic necrosis virus (EHNV) at 25 degrees C, and to a lesser extent, at 15 degrees C. No significant mortality was recorded in fish challenged with European sheatfish virus (ESV), Frog virus 3 (FV3), Rana esculenta virus-like (REV-like), Bohle iridovirus (BIV) or short-finned eel virus (SERV). PMID:20815324
Gobbo, F; Cappellozza, E; Pastore, M R; Bovo, G
Fractographic features of glass-ceramic and zirconia-based dental restorations fractured during clinical function.
Fractures during clinical function have been reported as the major concern associated with all-ceramic dental restorations. The aim of this study was to analyze the fracture features of glass-ceramic and zirconia-based restorations fractured during clinical use. Twenty-seven crowns and onlays were supplied by dentists and dental technicians with information about type of cement and time in function, if available. Fourteen lithium disilicate glass-ceramic restorations and 13 zirconia-based restorations were retrieved and analyzed. Fractographic features were examined using optical microscopy to determine crack initiation and crack propagation of the restorations. The material comprised fractured restorations from one canine, 10 incisors, four premolars, and 11 molars. One crown was not categorized because of difficulty in orientation of the fragments. The results revealed that all core and veneer fractures initiated in the cervical margin and usually from the approximal area close to the most coronally placed curvature of the margin. Three cases of occlusal chipping were found. The margin of dental all-ceramic single-tooth restorations was the area of fracture origin. The fracture features were similar for zirconia, glass-ceramic, and alumina single-tooth restorations. Design features seem to be of great importance for fracture initiation. PMID:24698173
Oilo, Marit; Hardang, Anne D; Ulsund, Amanda H; Gjerdet, Nils R
Clinical and radiographic features of Hutchinson-Gilford progeria syndrome: A case report.
Hutchinson-Gilford progeria syndrome (HGPS) is a rare dysmorphic syndrome characterized by several features of premature aging with clinical involvement of the skin, bones, and cardiovascular system. HGPS has an estimated incidence of one in four million to one in eight million births. The main clinical features of HGPS include short stature, craniofacial dimorphism, alopecia, bone fragility, and cardiovascular disorders. The most frequent cause of death is myocardial infarction at a mean age of 13 years old. Dental manifestations include delayed development and eruption of teeth, discoloration, crowding and rotation of teeth, and displaced teeth. Cone beam computed tomography images revealed the absence of the sphenoid, frontal, and maxillary sinus, flattening of the condyles and glenoid fossa, and bilateral hypoplasia of the mandibular condyles. The disease is caused by mutations in lamin A/C (LMNA). Here, we present a case report of an 11-year-old boy with classical features of HGPS, which was caused by a de novo germ-line mutation (C1824T, G608G) in exon 11 of the LMNA gene. Some uncommon HGPS-associated features in our patient, such as alterations in the facial sinuses and hypoplasia of the condyles, contributed to the expansion of the phenotypic spectrum of this syndrome from a dentomaxillofacial perspective. PMID:24653988
Alves, Daniel Berretta; Silva, Juliana Melo; Menezes, Tatiany Oliveira; Cavaleiro, Rosely Santos; Tuji, Fabr�cio Mesquita; Lopes, Marcio Ajudarte; Zaia, Alexandre Augusto; Coletta, Ricardo Della
The Spectrum of Pyruvate Dehydrogenase Complex Deficiency: Clinical, Biochemical and Genetic Features in 371 Patients
Context Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disorder commonly associated with lactic acidosis, progressive neurological and neuromuscular degeneration and, usually, death during childhood. There has been no recent comprehensive analysis of the natural history and clinical course of this disease. Objective We reviewed 371 cases of PDC deficiency, published between 1970-2010, that involved defects in subunits E1? and E1? and components E1, E2, E3 and the E3 Binding Protein of the complex. Data Sources and Extraction English language peer-reviewed publications were identified, primarily by using PubMed and Google Scholar search engines. Results Neurodevelopmental delay and hypotonia were the commonest clinical signs of PDC deficiency. Structural brain abnormalities frequently included ventriculomegaly, dysgenesis of the corpus callosum and neuroimaging findings typical of Leigh syndrome. Neither gender nor any clinical or neuroimaging feature differentiated the various biochemical etiologies of the disease. Patients who died were younger, presented clinically earlier and had higher blood lactate levels and lower residual enzyme activities than subjects who were still alive at the time of reporting. Survival bore no relationship to the underlying biochemical or genetic abnormality or to gender. Conclusions Although the clinical spectrum of PDC deficiency is broad, the dominant clinical phenotype includes presentation during the first year of life; neurological and neuromuscular degeneration; structural lesions revealed by neuroimaging; lactic acidosis and a blood lactate:pyruvate ratio ?20.
Patel, Kavi P.; O'Brien, Thomas W.; Subramony, Sankarasubramon H.; Shuster, Jonathan; Stacpoole, Peter W.
The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients
Context Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disorder commonly associated with lactic acidosis, progressive neurological and neuromuscular degeneration and, usually, death during childhood. There has been no recent comprehensive analysis of the natural history and clinical course of this disease. Objective We reviewed 371 cases of PDC deficiency, published between 1970 and 2010, that involved defects in subunits E1? and E1? and components E1, E2, E3 and the E3 binding protein of the complex. Data sources and extraction English language peer-reviewed publications were identified, primarily by using PubMed and Google Scholar search engines. Results Neurodevelopmental delay and hypotonia were the commonest clinical signs of PDC deficiency. Structural brain abnormalities frequently included ventriculomegaly, dysgenesis of the corpus callosum and neuroimaging findings typical of Leigh syndrome. Neither gender nor any clinical or neuroimaging feature differentiated the various biochemical etiologies of the disease. Patients who died were younger, presented clinically earlier and had higher blood lactate levels and lower residual enzyme activities than subjects who were still alive at the time of reporting. Survival bore no relationship to the underlying biochemical or genetic abnormality or to gender. Conclusions Although the clinical spectrum of PDC deficiency is broad, the dominant clinical phenotype includes presentation during the first year of life; neurological and neuromuscular degeneration; structural lesions revealed by neuroimaging; lactic acidosis and a blood lactate:pyruvate ratio?20.
Patel, Kavi P.; O'Brien, Thomas W.; Subramony, Sankarasubramon H.; Shuster, Jonathan; Stacpoole, Peter W.
Clinical and magnetic resonance imaging features of cricket bowler's side strain.
The clinical features of 10 cases of lateral trunk muscle injury in first class cricket pace bowlers are described. Typically the injury occurs during a single delivery, is associated with considerable pain, and prevents the bowler from continuing. The clinical picture is typical of a muscular or musculotendinous injury. The most consistent clinical tests were focal tenderness on palpation and pain with resisted side flexion towards the painful side. The magnetic resonance image in 70% of cases was consistent with an injury to the internal oblique, the external oblique, or the transversalis muscles at or near their attachments to one or more of the lowest four ribs. The injury occurs on the non-bowling arm side. Recovery can be prolonged. The injury was a recurrence in six of the 10 cases. The biomechanics of the injury are not yet understood. PMID:15388565
Humphries, D; Jamison, M
Clinical features, developmental course, and psychiatric comorbidity of adult autism spectrum disorders.
Autism spectrum disorders (ASDs) include a heterogeneous group of neurodevelopmental disorders with early onset in childhood. ASDs should be considered lifelong clinical entities, although there is a certain variability in developmental trajectories, and therefore should be considered of great interest also for adulthood psychiatrists. A few studies have been carried out to explore the clinical picture and course development of these disorders during adulthood, or their relationship with other mental disorders. Indeed, ASDs often share overlapping features with other disorders, such as schizophrenia and obsessive-compulsive, mood, and personality disorders, and as a result misdiagnoses often occur. The aim of this review is to summarize the available literature on ASDs in adulthood with a specific focus on the clinical picture, course, and psychiatric comorbidity. It is proposed that a careful diagnostic screening for ASDs in adults would contribute to clarifying the relationship with comorbid psychiatric disorders, while improving the possibility of treatment and outcome of such conditions. PMID:24352005
Vannucchi, Giulia; Masi, Gabriele; Toni, Cristina; Dell'Osso, Liliana; Marazziti, Donatella; Perugi, Giulio
Histopathological features predictive of a clinical diagnosis of ophthalmic granulomatosis with polyangiitis (GPA)
Background The limited form of Granulomatosis with Polyangiitis (GPA), formerly known as Wegener�s Granulomatosis (WG) primarily involves the head and neck region, including the orbit, but is often a diagnostic challenge, particularly as it commonly lacks positive anti-neutrophil cytoplasm antibody (ANCA) titres or classical features on diagnostic orbital biopsies. The purpose of this study was to relate biopsy findings with clinical outcome and to determine which histopathological features are predictive of a clinical diagnosis of GPA. Methods Retrospective case series of 234 patients identified from the database of the UCL Institute of Ophthalmology Department of Eye Pathology as having had orbital biopsies of orbital inflammatory disorders performed between 1988 and 2009. Clinical records were obtained for the patients and analysed to see whether patients had GPA or not, according to a standard set of diagnostic criteria (excluding any histopathological findings). Biopsy features were then correlated with the clinical diagnosis in univariate and multivariate analyses to determine factors predictive of GPA. Results Of the 234 patients, 36 were diagnosed with GPA and 198 with other orbital pathologies. The majority of biopsies were from orbital masses (47%). Histology showed a range of acute and chronic inflammatory pictures in all biopsies, but the presence of neutrophils (P<0.001), vasculitis (P<0.001), necrosis (P<0.001), eosinophils (P<0.02) and macrophages (P=0.05) were significantly associated with a later clinical diagnosis of GPA. In a multivariate analysis, only tissue neutrophils (OR=3.6, P=0.01) and vasculitis (OR=2.6, P=0.02) were independently associated with GPA, in contrast to previous reports associating eosinophils and necrosis with the diagnosis. Conclusions Neutrophil, eosinophil and macrophage infiltration of orbital tissues, together with vasculitis and necrosis, are all associated with a clinical diagnosis of GPA, but only neutrophil infiltration and vasculitis are independently associated with this diagnosis. These features may assist in the establishing the diagnosis of limited GPA among patients with early orbital disease, particularly in the absence of positive serum ANCA titres.
Isa, Hazlita; Lightman, Sue; Luthert, Philip J; Rose, Geoffrey E; Verity, David H; Taylor, Simon RJ
Early-onset psychoses: comparison of clinical features and adult outcome in 3 diagnostic groups.
A comparison of clinical features and adult outcome in adolescents with three types of psychotic disorders: schizophrenic (SPh), schizoaffective (SA) and bipolar with psychotic features (BPP). Subjects (n = 41) were finally diagnosed (DSM-IV criteria) with SPh (n = 17), SA (n = 11) or BPP (n = 13). Clinical evaluation took place at onset and at a 3-year follow-up in all 41, and at least after 5 years in 36 patients. Symptoms were rated on the basis of the Positive and Negative Syndrome Scale (PANSS), integrating items from the Brief Psychiatric Rating Scale (BPRS) and the Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version (K-SADS-PL). The Children Global Assessment Scale (C-GAS) and the Global Assessment Scale (GAF) were used to evaluate global functioning. Significant differences in clinical features were found in the three diagnostic groups as regards several parameters, some present on one and not on other rating scales, underscoring the insufficiency of a single scale for accurate analysis of the features of a psychotic disorder. At onset, a comparison using the simple presence/absence of symptoms showed scant differences among groups, while differences emerged if symptom severity was included in the comparison. Functioning at 3- and 5-year follow-ups showed a significantly better outcome in the BPP group and more substantial deterioration, with similar evolution, in the SPh and SA groups. The integration of several rating scales differentiated between diagnostic groups more effectively. The similar adult functioning outcome in the SPh and SA groups showed how difficult it is to clearly separate these two disorders. PMID:19280338
Ledda, Maria Giuseppina; Fratta, Anna Lisa; Pintor, Manuela; Zuddas, Alessandro; Cianchetti, Carlo
Systemic sclerosis: demographic, clinical and serological features in 100 Iranian patients.
To evaluate demographic, clinical and laboratory features associated with scleroderma-specific auto-antibodies. Sera of 100 patients with systemic sclerosis (SSc) were analyzed by an indirect immunofluorescence technique with HEp-2 cells as a substrate. Specific ANA such as anti-centromere antibodies (ACA), anti-topoisomerase (TOPO), anti-RNA polymerase III (Pol 3), anti-U3-RNP (U3-RNP), anti-Th/To (Th/To) and anti-PM/Scl (PM/Scl) were detected by line immunoassay and anti-U1-RNP (U1-RNP) by ELISA. Frequency of clinical features associated with a specific antibody group was reported cumulatively over the follow-up period. Frequency of specific clinical features was compared across the two disease subtype including limited cutaneous (lcSSc) or diffuse cutaneous (dcSSc) as well as the auto-antibody groups. Ninety-four percent of patients were ANA positive with significant higher skin score, Raynauds and digital ulcer/gangrene. Anti-TOPO was detected in 71% of all patients, in 90.5% of dcSSC and in 65.8% of lcSSc. Anti-TOPO was significantly associated with dcSSc, higher skin score, digital ulcer/gangrene, pulmonary fibrosis, DLCO <70%. U1-RNP antibody was associated with lower fibrosis in lung. ACA was positive in 7% of patients and exclusively in those with lcSSc. We did not find association between gender and presence of auto-antibodies. Anti-TOPO antibody had a high prevalence in contrast to low prevalence of ACA antibody. There were no differences in clinical subtypes of the disease in patients with positive anti-TOPO and positive ACA. Differences in prevalence of auto-antibodies are suggestive of further genetic study. PMID:23344826
Poormoghim, Hadi; Moghadam, Alireza Salek; Moradi-Lakeh, Maziar; Jafarzadeh, Mehrzad; Asadifar, Behnam; Ghelman, Mohsen; Andalib, Elham
Clinical and Dermoscopic Features of 88 Scalp Nevi in 39 Children
Summary Background Paediatric scalp nevi may represent a source of anxiety for practitioners and parents, as the clinical and dermoscopic features of typical nevi have yet to be defined. Prompted by concern about the large size, irregular borders, and colour variation of scalp nevi, clinicians and parents may request unnecessary excision of these nevi. Objective The purpose of this study is to establish the typical clinical and dermoscopic patterns of scalp nevi in children younger than 18 years old to help optimize clinical care and management. Methods Scalp nevi were imaged with a camera (Canon Rebel, XSi) and dermoscopic attachment (3Gen, Dermlite Foto, 30mm lens) to the camera. The clinical and dermoscopic images were reviewed and analyzed. Both acquired and congenital scalp nevi were included but were not further differentiated from each other. Results We obtained clinical and dermoscopic images of 88 scalp nevi in 39 Caucasian children. Two subjects had received chronic immunosuppressive medication. Nineteen children have had a family history of melanoma. Males (18/39 subjects, 46%) possessed 68% (60 nevi) of scalp nevi imaged. Younger (<10 years old) subjects (24/39 subjects, 62%) possessed 42% (37 nevi) of scalp nevi. The main clinical patterns included eclipse (n=18), cockade (n=3), solid brown (n=42), and solid pink (n=25) nevi. Solid-coloured nevi showed the following dermoscopic patterns: globular (57%), complex (reticular-globular) (27%), reticular (9%), homogenous (6%), and fibrillar (1%). The majority of nevi had a unifying feature�perifollicular hypopigmentation, which caused the appearance of scalloped, irregular borders if occurring on the periphery, or variegation in pigmentation, if occurring within the nevi. Conclusions Older subjects and males tend to harbour a larger proportion of scalp nevi. The main clinical patterns include solid-coloured and eclipse nevi. The most common dermoscopic pattern of scalp nevi is the globular pattern. Perifollicular hypopigmentation is a hallmark feature of signature scalp nevi. Dermoscopy is a non-invasive tool in the evaluation of cutaneous melanocytic lesions in children and may decrease the number of unnecessary excisions.
Tcheung, W.J.; Bellet, J.S.; Prose, N.S.; Cyr, D.D.; Nelson, K.C.
Feasibility of feature-based indexing, clustering, and search of clinical trials: A case study of breast cancer trials from ClinicalTrials.gov
Summary Background When standard therapies fail, clinical trials provide experimental treatment opportunities for patients with drug-resistant illnesses or terminal diseases. Clinical Trials can also provide free treatment and education for individuals who otherwise may not have access to such care. To find relevant clinical trials, patients often search online; however, they often encounter a significant barrier due to the large number of trials and in-effective indexing methods for reducing the trial search space. Objectives This study explores the feasibility of feature-based indexing, clustering, and search of clinical trials and informs designs to automate these processes. Methods We decomposed 80 randomly selected stage III breast cancer clinical trials into a vector of eligibility features, which were organized into a hierarchy. We clustered trials based on their eligibility feature similarities. In a simulated search process, manually selected features were used to generate specific eligibility questions to filter trials iteratively. Results We extracted 1,437 distinct eligibility features and achieved an inter-rater agreement of 0.73 for feature extraction for 37 frequent features occurring in more than 20 trials. Using all the 1,437 features we stratified the 80 trials into six clusters containing trials recruiting similar patients by patient-characteristic features, five clusters by disease-characteristic features, and two clusters by mixed features. Most of the features were mapped to one or more Unified Medical Language System (UMLS) concepts, demonstrating the utility of named entity recognition prior to mapping with the UMLS for automatic feature extraction. Conclusions It is feasible to develop feature-based indexing and clustering methods for clinical trials to identify trials with similar target populations and to improve trial search efficiency.
Boland, Mary Regina; Miotto, Riccardo; Gao, Junfeng; Weng, Chunhua
A Chinese pedigree of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): clinical and radiological features.
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare hereditary cerebral vascular disease thought to be confined to Japan. This paper reports a Chinese pedigree of CARASIL in which two patients exhibited all of the typical clinical features of the disease. The radiological features are also discussed and compared with those of CADASIL. These cases illustrate the unique clinical and radiological features of CARASIL and challenge the idea that CARASIL is limited to the Japanese population. PMID:19299137
Zheng, D M; Xu, F F; Gao, Y; Zhang, H; Han, S C; Bi, G R
Foot Drop Caused by Lumbar Degenerative Disease: Clinical Features, Prognostic Factors of Surgical Outcome and Clinical Stage
Objective The purpose of this study was to analyze the clinical features and prognostic factors of surgical outcome of foot drop caused by lumbar degenerative disease and put forward the clinical stage. Methods We retrospectively reviewed 135 patients with foot drop due to lumbar degenerative disease. The clinical features and mechanism were analyzed. Age, sex, duration of palsy, preoperative muscle strength of tibialis anterior (TA), sensation defect of affected lower limb, affected foot, diagnosis and compressed nerve roots were recorded and compared with surgical outcome. Results Foot drop was observed in 8.1% of all inpatients of lumbar degenerative disease. L5 nerve root compression was observed in 126 of all 135 patients (93.3%). Single, double and triple roots compression was observed respectively in 43, 83, and 9 patients (31.9%, 61.5%, and 6.6%). But there was no significant relationship between preoperative muscle strength of TA and the number of compressed roots. The muscle strength of TA was improved in 113 (83.7%) patients after surgery, but it reached to >=4 in only 21 (15.6%) patients. Improvement of the muscle strength of TA was almost stable at the 6-month follow-up. At the last follow-up, the muscle strength of TA was 1, 2, 3, 4, 5 respectively in 28, 24, 62, 13, 8 patients. Multivariate logistic regression showed duration of palsy (p=0.0360, OR=2.543), preoperative muscle strength of TA (p=0.0064, OR=5.528) and age (p=0.0309, OR=3.208) were factors that influenced recovery following an operation. Conclusions L5 nerve root was most frequently affected. The muscle strength of TA improved in most patients after surgery, but few patients can get a good recovery from foot drop. Patients of shorter duration of palsy, better preoperative muscle strength of TA and younger age showed a better surgical outcome.
Shi, Jiangang; Jia, Lianshun; Shi, Guodong; Wang, Yuan; Liu, Ning
Clinical Features of Severe Malaria Associated with Death: A 13-Year Observational Study in The Gambia
Background Severe malaria (SM) is a major cause of death in sub-Saharan Africa. Identification of both specific and sensitive clinical features to predict death is needed to improve clinical management. Methods A 13-year observational study was conducted from 1997 through 2009 of 2,901 children with SM enrolled at the Royal Victoria Teaching Hospital in The Gambia to identify sensitive and specific predictors of poor outcome in Gambian children with severe malaria between the ages 4 months to 14 years. We have measured the sensitivity and specificity of clinical features that predict death or development of neurological sequelae. Findings Impaired consciousness (odds ratio {OR} 4.4 [95% confidence interval {CI}, 2.7�7.3]), respiratory distress (OR 2.4 [95%CI, 1.7�3.2]), hypoglycemia (OR 1.7 [95%CI, 1.2�2.3]), jaundice (OR 1.9 [95%CI, 1.2�2.9]) and renal failure (OR 11.1 [95%CI, 3.3�36.5]) were independently associated with death in children with SM. The clinical features that showed the highest sensitivity and specificity to predict death were respiratory distress (area under the curve 0.63 [95%CI, 0.60�0.65]) and impaired consciousness (AUC 0.61[95%CI, 0.59�0.63]), which were comparable to the ability of hyperlactatemia (blood lactate>5 mM) to predict death (AUC 0.64 [95%CI, 0.55�0.72]). A Blantyre coma score (BCS) of 2 or less had a sensitivity of 74% and specificity of 67% to predict death (AUC 0.70 [95% C.I. 0.68�0.72]), and sensitivity and specificity of 74% and 69%, respectively to predict development of neurological sequelae (AUC 0.72 [95% CI, 0.67�0.76]).The specificity of this BCS threshold to identify children at risk of dying improved in children less than 3 years of age (AUC 0.74, [95% C.I 0.71�0.76]). Conclusion The BCS is a quantitative predictor of death. A BCS of 2 or less is the most sensitive and specific clinical feature to predict death or development of neurological sequelae in children with SM.
Ackerman, Hans; Walther, Brigitte; Walther, Michael; Pinder, Margaret; Sisay-Joof, Fatou; Usen, Stanley; Jallow, Mariatou; Abubakar, Ismaela; Olaosebikan, Rasaq; Jobarteh, Aminata; Conway, David J.; Bojang, Kalifa; Kwiatkowski, Dominic
Perineural Infiltration of Cutaneous Squamous Cell Carcinoma and Basal Cell Carcinoma Without Clinical Features
Purpose: To review the factors that influence outcome and patterns of relapse in patients with cutaneous squamous cell carcinoma (SCC) and basal cell carcinoma (BCC) with perineural infiltration (PNI) without clinical or radiologic features, treated with surgery and radiotherapy. Methods and Materials: Between 1991 and 2004, 222 patients with SCC or BCC with PNI on pathologic examination but without clinical or radiologic PNI features were identified. Charts were reviewed retrospectively and relevant data collected. All patients were treated with curative intent; all had radiotherapy, and most had surgery. The primary endpoint was 5-year relapse-free survival from the time of diagnosis. Results: Patients with SCC did significantly worse than those with BCC (5-year relapse-free survival, 78% vs. 91%; p < 0.01). Squamous cell carcinoma with PNI at recurrence did significantly worse than de novo in terms of 5-year local failure (40% vs. 19%; p < 0.01) and regional relapse (29% vs. 5%; p < 0.01). Depth of invasion was also a significant factor. Of the PNI-specific factors for SCC, focal PNI did significantly better than more-extensive PNI, but involved nerve diameter or presence of PNI at the periphery of the tumor were not significant factors. Conclusions: Radiotherapy in conjunction with surgery offers an acceptable outcome for cutaneous SCC and BCC with PNI. This study suggests that focal PNI is not an adverse feature.
Lin, Charles, E-mail: email@example.com [Cancer Care Services, Royal Brisbane and Women's Hospital, Brisbane, Queensland (Australia); Tripcony, Lee; Keller, Jacqui [Cancer Care Services, Royal Brisbane and Women's Hospital, Brisbane, Queensland (Australia); Poulsen, Michael [Mater Hospital, Brisbane, Queensland (Australia); Martin, Jarad [St. Andrews Hospital, Toowoomba, Queensland (Australia); Jackson, James; Dickie, Graeme [Cancer Care Services, Royal Brisbane and Women's Hospital, Brisbane, Queensland (Australia)
Childhood Ataxia: Clinical Features, Pathogenesis, Key Unanswered Questions, and Future Directions
Childhood ataxia is characterized by impaired balance and coordination primarily due to cerebellar dysfunction. Friedreich ataxia, a form of childhood ataxia, is the most common multisystem autosomal recessive disease. Most of these patients are homozygous for the GAA repeat expansion located on the first intron of the frataxin gene on chromosome 9. Mutations in the frataxin gene impair mitochondrial function, increase reactive oxygen species, and trigger redistribution of iron in the mitochondria and cytosol. Targeted therapies for Friedreich ataxia are undergoing testing. In addition, a centralized database, patient registry, and natural history study have been launched to support clinical trials in Friedreich ataxia. The 2011 Neurobiology of Disease in Children symposium, held in conjunction with the 40th annual Child Neurology Society meeting, aimed to (1) describe clinical features surrounding Friedreich ataxia, including cardiomyopathy and genetics; (2) discuss recent advances in the understanding of the pathogenesis of Friedreich ataxia and developments of clinical trials; (3) review new investigations of characteristic symptoms; (4) establish clinical and biochemical overlaps in neurodegenerative diseases and possible directions for future basic, translational, and clinical studies.
Ashley, Claire N.; Hoang, Kelly D.; Lynch, David R.; Perlman, Susan L.; Maria, Bernard L.
The relevance of recognizing clinical and morphologic features of pityriasis lichenoides: clinicopathological study of 29 cases
Background: Pityriasis lichenoides (PL) is a lymphoproliferative disease of unknown origin; its diagnosis is based on clinical characteristics and confirmed by histology. Objectives: To describe clinical and histological features of PL in 29 pediatric patients. Materials and Methods: Retrospective descriptive study of children (patients less than 15 years old) diagnosed with PL between 1986 and 2010 at a Reference Service in Pediatric Dermatology from South Brazil. Results: Twenty-nine PL cases were found by chart review in 24 years. Mean age of diagnosis was 8 years (22 to 178 months) and a mean time of diagnosis was 13.8 months (1 to 120 months). Twenty cases (69%) were male. Seasonal correlation was found with colder months in 62% of cases (p<0.01). Clinical diagnosis was pityriasis lichenoides chronica (PLC) in 25 cases, and pityriasis lichenoides et varioliformis acuta (PLEVA) in four. Itching was the main reported symptom occurring in 13 (45%). Fourteen cases had been histologically evaluated. In six, microscopic findings were consistent with PLC, in four consistent with PLEVA, and four biopsies exhibited mixed characteristics of both forms. Concordance between clinical and histological diagnosis was seen in most cases. Conclusion: PL occurs in children and young adults, more commonly in males, and during cold months. PLC was the more frequent clinicohistologic form, and necrotic lesions characterized PLEVA. Associating clinical and histological findings is important for differentiating between PLC and PLEVA diagnosis.
Markus, Jandrei Rogerio; Carvalho, Vania Oliveira; Lima, Monica Nunes; Abagge, Kerstin Taniguchi; Nascimento, Alexandre; Werner, Betina
Clinical features, diagnostic tools, and treatment regimens for visceral leishmaniasis in Bulgaria
Purpose Visceral leishmaniasis (VL), caused by the parasite Leishmania infantum, which was once largely confined to Southern Europe is now being diagnosed throughout Northern Europe, including Great Britain. In an effort to help EU clinicians improve their diagnosis and management of VL, this paper defines clinical features typical of the disease as it presents in Bulgaria, where VL is endemic. Methods The list of clinical symptoms presented here was gleaned from the medical records (patient histories, epidemiological survey cards, laboratory data) of 59 Bulgarian patients with VL. This study also includes microscopic, serological, and molecular laboratory techniques. Results Described and analyzed are the clinical features, diagnostic techniques, and therapeutic regimens of 59 cases � part of the total number of VL case histories (P?=?120, 116 Bulgarian and 4 not Bulgarian) collected in Bulgaria over the past 24 years (1988�2011). Although all of the studied 59 cases presented with classical symptoms of VL, only in three occasions, the initial diagnosis was correct. Conclusions Left untreated, zooanthroponotic VL leads to debilitating chronic disease and even death. Yet, because VL is hard to recognize and relatively new to Northern Europe, misdiagnosis is common and treatment too often inappropriate and delayed.
Harizanov, Rumen N; Kaftandjiev, Iskren T; Jordanova, Diana P; Marinova, Irina B; Tsvetkova, Nina D
Clinical features of dysthyroid optic neuropathy: a European Group on Graves' Orbitopathy (EUGOGO) survey
Background This study was performed to determine clinical features of dysthyroid optic neuropathy (DON) across Europe. Methods Forty seven patients with DON presented to seven European centres during one year. Local protocols for thyroid status, ophthalmic examination and further investigation were used. Each eye was classified as having definite, equivocal, or no DON. Results Graves' hyperthyroidism occurred in the majority; 20% had received radioiodine. Of 94 eyes, 55 had definite and 17 equivocal DON. Median Clinical Activity Score was 4/7 but 25% scored 3 or less, indicating severe inflammation was not essential. Best corrected visual acuity was 6/9 (Snellen) or worse in 75% of DON eyes. Colour vision was reduced in 33 eyes, of which all but one had DON. Half of the DON eyes had normal optic disc appearance. In DON eyes�proptosis was > 21?mm (significant) in 66% and visual fields abnormal in 71%. Orbital imaging showed apical muscle crowding in 88% of DON patients. Optic nerve stretch and fat prolapse were infrequently reported. Conclusion Patients with DON may not have severe proptosis and orbital inflammation. Optic disc swelling, impaired colour vision and radiological evidence of apical optic nerve compression are the most useful clinical features in this series.
McKeag, David; Lane, Carol; Lazarus, John H; Baldeschi, Lelio; Boboridis, Kostas; Dickinson, A Jane; Hullo, A Iain; Kahaly, George; Krassas, Gerry; Marcocci, Claudio; Marino, Michele; Mourits, Maarten P; Nardi, Marco; Neoh, Christopher; Orgiazzi, Jacques; Perros, Petros; Pinchera, Aldo; Pitz, Susanne; Prummel, Mark F; Sartini, Maria S; Wiersinga, Wilmar M
Evaluation of Incidence and Clinical Features of Antibody-Associated Autoimmune Encephalitis Mimicking Dementia
Background. Anti-neuronal autoimmunity may cause cognitive impairment that meets the criteria for dementia. Objective. Our aim was to detect the incidence and clinical features of autoimmune encephalitis imitating clinical findings of primary dementia disorders and to delineate the validity of anti-neuronal antibody screening in dementia patients. Methods. Fifty consecutive patients fulfilling the clinical criteria for primary dementia, 130 control patients, and 50 healthy controls were included. Their sera were investigated for several ion channel and glutamic acid decarboxylase (GAD) antibodies by a cell-based assay, radioimmunoassay, and ELISA, as required. Results. Sixteen patients satisfying dementia criteria had atypical findings or findings suggestive of autoimmune encephalitis. N-methyl-D-aspartate receptor (NMDAR) antibody was detected in a patient with dementia, Parkinsonism, and REM sleep behavior disorder (RBD) fulfilling the criteria for dementia with Lewy bodies (DLB). One control patient with bipolar disease displayed low anti-GAD antibody levels. Conclusions. Our study showed for the first time the presence of parkinsonism and RBD in an anti-NMDAR encephalitis patient mimicking DLB. Although autoimmune encephalitis patients may occasionally present with cognitive decline, most dementia patients do not exhibit anti-neuronal antibodies, suggesting that routine analysis of these antibodies in dementia is not mandatory, even though they display atypical features.
Coban, Arzu; Ismail Kucukali, Cem; Bilgic, Basar; Yalc?nkaya, Nazl?; Haytural, Hazal; Ulusoy, Canan; Turan, Selin; Cak?r, Sibel; Ucok, Alp; Unubol, Huseyin; Hanagasi, Hasmet A.; Gurvit, Hakan; Tuzun, Erdem
Association of Systemic Lupus Erythematosus Clinical Features with European Population Genetic Substructure
Systemic Lupus Erythematosus (SLE) is an autoimmune disease with a very varied spectrum of clinical manifestations that could be partly determined by genetic factors. We aimed to determine the relationship between prevalence of 11 clinical features and age of disease onset with European population genetic substructure. Data from 1413 patients of European ancestry recruited in nine countries was tested for association with genotypes of top ancestry informative markers. This analysis was done with logistic regression between phenotypes and genotypes or principal components extracted from them. We used a genetic additive model and adjusted for gender and disease duration. Three clinical features showed association with ancestry informative markers: autoantibody production defined as immunologic disorder (P?=?6.8�10?4), oral ulcers (P?=?6.9�10?4) and photosensitivity (P?=?0.002). Immunologic disorder was associated with genotypes more common in Southern European ancestries, whereas the opposite trend was observed for photosensitivity. Oral ulcers were specifically more common in patients of Spanish and Portuguese self-reported ancestry. These results should be taken into account in future research and suggest new hypotheses and possible underlying mechanisms to be investigated. A first hypothesis linking photosensitivity with variation in skin pigmentation is suggested.
Calaza, Manuel; Witte, Torsten; Papasteriades, Chryssa; Marchini, Maurizio; Migliaresi, Sergio; Kovacs, Attila; Ordi-Ros, Josep; Bijl, Marc; Santos, Maria Jose; Ruzickova, Sarka; Pullmann, Rudolf; Carreira, Patricia; Skopouli, Fotini N.; D'Alfonso, Sandra; Sebastiani, Gian Domenico; Suarez, Ana; Blanco, Francisco J.; Gomez-Reino, Juan J.; Gonzalez, Antonio
[Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child].
This study aimed to report the clinical characteristics and COMP gene mutation of a family with pseudoachondroplasia (PSACH), a relatively rare spinal and epiphyseal dysplasia that is inherited as an autosomal dominant trait. Clinical information on a 5-year-2-month-old PSACH child and his parents was collected and analyzed. Diagnosis was confirmed by PCR amplification and direct sequencing of all the 19 exons and their flanking sequences of COMP gene, and the mutation was further ascertained by cloning analysis of exon 10. The child presented with short and stubby fingers, bow leg, short limb dwarfism and metaphysic broadening in long bone as well as lumbar lordosis. A mutation c.1048_1116del (p.Asn350_Asp372del) in exon 10, inherited from his father who did not demonstrate any phenotypic feature of PSACH, was detected in the child. PSACH was diagnosed definitively by means of COMP mutation analysis, on the basis of the child's clinical and imaging features. The non-penetrance phenomenon of COMP mutation was described for the first time in PSACH. PMID:24229584
Lu, Chun-Ting; Guo, Li; Zahng, Zhan-Hui; Lin, Wei-Xia; Song, Yuan-Zong; Feng, Lie
Differences in clinical features between children and adults with dengue hemorrhagic fever/dengue shock syndrome.
This retrospective study was conducted to assess the differences in clinical features between children and adults with dengue hemorrhagic fever/ dengue shock syndrome (DHF/DSS) admitted to Ratchaburi Hospital, Ratchaburi Province, Thailand. A total of 273 patients with DHF/DSS admitted to Ratchaburi Hospital during January 2007 to May 2008 were included in the study. The median age (range) of studied subjects was 16 years (6 months to 62 years) and the ratio of adults to children was 1.6:1. Forty-eight percent of subjects were 16-30 years old. The common signs, symptoms and clinical features were: nausea/vomiting (74.0%), a positive tourniquet test (73.0%), anorexia (67.0%), hemoconcentration (58.0%), headache (54.0%), abdominal tenderness (43.0%), myalgia (39.0%) and pleural effusion (20.0%). Children had anorexia, a positive tourniquet test, abdominal tenderness and a convalescent rash more frequently than adults. Children also had significantly more prominent plasma leakage as shown by lower serum albumin and sodium and a higher prevalence of pleural effusion, ascites and shock. Although not statistically significant, the prevalence of bleeding in children was higher than in adults but more adults needed blood transfusion. This study provides additional insight into the clinical picture of DHF/DSS in adults and children and may be beneficial for clinicians caring for these adults and children. PMID:24437312
Namvongsa, Vannyda; Sirivichayakul, Chukiat; Songsithichok, Sirilak; Chanthavanich, Pornthep; Chokejindachai, Watcharee; Sitcharungsi, Raweerat
Imaging features of primary anorectal gastrointestinal stromal tumors with clinical and pathologic correlation
Abstract Purpose: To evaluate the imaging features of anorectal gastrointestinal stromal tumors (GISTs) with clinical and histopathologic correlation. Materials and methods: In this Institutional Review Board-approved, Health Insurance Portability and Accountability Act-compliant retrospective study, 16 patients (12 men; mean age 66 years (30�89 years)) with pathologically proven anorectal GISTs seen at our institution from January 2001 to July 2011 were identified. Electronic medical records were reviewed to obtain clinical data. Pretreatment imaging studies (computed tomography (CT) in 16 patients, magnetic resonance imaging (MRI) in 9 patients and fluorodeoxyglucose (FDG)-positron emission tomography (PET)/CT in 8 patients) were evaluated by 2 radiologists until consensus. The location, size and imaging features of the primary tumor and metastases at presentation, if any, were recorded, and correlated with clinical data and pathologic features (histologic type, presence of necrosis, mitotic activity, risk category, immunohistochemical profile). Results: The mean tumor size was 6.9?�?6.0?cm. Of the 16 tumors, 11 (68.7%) were infralevator, 4 (25%) supra and infralevator and 1 (6.3%) supralevator; 9 (56.2%) were exophytic, 6 (37.5%) both exophytic and intraluminal, and 1 (6.3%) was intraluminal. The tumors were iso- to minimally hypoattenuating to muscle on CT, iso- to minimally hypointense on T1-weighted images, hyperintense on T2-weighted images and showed variable enhancement. Necrosis was seen in 4 (25%), and hemorrhage and calcification in 2 (12.5%) patients each. The tumors were FDG avid with a mean maximum standardized uptake value of 11 (8.4�16.8). All tumors were positive for KIT and CD34. Distant metastasis to liver was seen in 1 patient (6.3%) at presentation. Conclusion: Anorectal GISTs are well-circumscribed, non-circumferential, predominantly infralevator, intramural or exophytic, FDG-avid, hypoattenuating masses, and present without lymphadenopathy or intestinal obstruction.
Koch, M.R.; Jagannathan, J.P.; Krajewski, K.M.; Raut, C.P.; Hornick, J.L.; Ramaiya, N.H.
Correlation between clinical features and magnetic resonance imaging findings in lumbar disc prolapse
Background: Lumbar disc prolapse is one of the common causes of low back pain seen in the working population. There are contradictorty reports regarding the clinical significance of various magnetic resonance imaging (MRI) findings observed in these patients. The study was conducted to correlate the abnormalities observed on MRI and clinical features of lumbar disc prolapse. Materials and Methods: 119 clinically diagnosed patients with lumbar disc prolapse were included in the study. Clinical evaluation included pain distribution, neurological symptoms and signs. MR evaluation included grades of disc degeneration, type of herniation, neural foramen compromise, nerve root compression, and miscellaneous findings. These MRI findings were tested for inter- and intraobserver variability. The MRI findings were then correlated with clinical symptoms and the level of disc prolapse as well as neurological signs and symptoms. Statistical analysis included the Kappa coefficient, Odd�s ratio, and logistic regression analysis. Results: There were no significant inter- or intraobserver variations for most of MRI findings (Kappa value more than 0.5) except for type of disc herniation which showed a interobserver variation of 0.46 (Kappa value). The clinical level of pain distribution correlated well with the MRI level (Kappa 0.8), but not all disc bulges produced symptoms. Central bulges and disc protrusions with thecal sac compression were mostly asymptomatic, while centrolateral protrusions and extrusions with neural foramen compromise correlated well with the dermatomal distribution of pain. Root compression observed in MRI did not produce neurological symptoms or deficits in all patients but when deficits were present, they correlated well with the presence of root compression in MRI. Multiple level disc herniations with foramen compromise were strongly associated with the presence of neurological signs. Conclusions: The presence of centrolateral protrusion or extrusion with gross foramen compromise correlates with clinical signs and symptoms very well, while central bulges and disc protrusions correlate poorly with clinical signs and symptoms. The presence of neural foramen compromise is more important in determining the clinical signs and symptoms while type of disc herniation (bulge, protrusion, or extrusion) correlates poorly with clinical signs and symptoms.
Janardhana, Aithala P; Rajagopal; Rao, Sharath; Kamath, Asha
The Morel-Lavall�e lesion: pathophysiology, clinical presentation, imaging features, and treatment options.
Morel-Lavall�e lesions are posttraumatic hemolymphatic collections related to shearing injury and disruption of interfascial planes between subcutaneous soft tissue and muscle. We review the pathophysiology of Morel-Lavall�e lesions, clinical presentation, and potential sites of involvement. Magnetic resonance imaging (MRI) is the modality of choice for characterization. We present the MRI classification and highlight the key imaging features that distinguish the different types, focusing on the three most common: seroma, subacute hematoma, and chronic organizing hematoma. Potential mimics of Morel-Lavall�e lesions, such as soft tissue sarcoma and hemorrhagic prepatellar bursitis, are compared and contrasted. Treatment options and a management algorithm are also briefly discussed. PMID:23949106
Bonilla-Yoon, Iris; Masih, Sulabha; Patel, Dakshesh B; White, Eric A; Levine, Benjamin D; Chow, Kira; Gottsegen, Christopher J; Matcuk, George R
Clinical features and prognostic factors of patients with �peripheral T cell lymphoma, unspecified�
The purpose of this retrospective study was to investigate clinical features and treatment outcomes in patients with peripheral\\u000a T cell lymphoma-unspecified (PTCL-U). Eighty-four patients who were diagnosed with PTCL-U between February 1995 and December\\u000a 2005 were included in the study. Around 70% of the patients presented with stage III�IV disease; 24% were categorized as high\\u000a or high-intermediate risk according to
Yuna Lee; Ji Eun Uhm; Hui-Young Lee; Min Jae Park; Hyeongsu Kim; Suk Joong Oh; Jun Ho Jang; Kihyun Kim; Chul Won Jung; Yong Chan Ahn; Young Hyeh Ko; Won Seog Kim
Alveolar Soft Part Sarcoma Arising from the Kidney: Imaging and Clinical Features
Alveolar soft part sarcoma (ASPS) is an extremely rare malignant soft tissue sarcoma primarily affecting young patients. It usually occurs in the lower extremities, although it can occur in soft tissue anywhere in the body. However, to our knowledge, there has been no case of primary ASPS originating from the kidney in the literature. We herein present the imaging and clinical features of an ASPS which occurred in a 16-year-old male presented as a palpable mass in the left side of the abdomen.
Kim, Jung Myung; Oh, Soon Nam; Chung, Nak Gyun
Bifid mandibular condyle: a study of the clinical features, patterns and morphological variations using CT scans.
Bifid Mandibular Condyle (BMC) are usually diagnosed on routine radiographic examination, is described in the literature as a rare entity. It is reported that BMC has no predilection by sex or ethnic background or the age. The etiopathogenesis of BMC still remains controversial and proper description of the condition is not defined owing to fewer reported cases. Dental professionals should have some knowledge of this anatomic abnormality, as well as its implications for function and appropriate treatment modalities, so that they can be alert to this potential diagnosis. This paper reports the largest series of BMC, using CT scans with history of trauma and presents some of the characteristic clinical features. PMID:23139565
Balaji, S M
The clinical significance of recognizing distinct morphologic features of systemic diseases on breast biopsies.
Prominent lymphocytic periductal inflammation has been previously described in association with diabetes mellitus type I and II, other autoimmune diseases such as lupus, thyroid disease, and connective tissue abnormalities, and even lymphomas. When incidentally detected in a breast biopsy and without evidence of systemic disease in the patient's history, it may be prudent to alert the treating clinician to the possibility of an underlying systemic disease process, in order to ensure recognition and appropriate clinical follow-up for these patients. The purpose of this review is to familiarize the reader with this commonly encountered incidental feature on breast biopsies and to emphasize the importance and clinical implications of recognizing possible underlying systemic disease and communicating these findings to the treating physicians. PMID:22692284
Masood, Shahla; Davis, Cindy Lee; Kubik, Melanie Jennifer
Popliteal Cysts in Paediatric Patients: Clinical Characteristics and Imaging Features on Ultrasound and MRI
Popliteal cysts, or Baker cysts, are considered rare in children and may exhibit particular features, as compared with adults. We studied data from 80 paediatric patients with 55 Baker cysts, examined over a period of 7 years, and correlated clinical presentation with findings on ultrasonography and MRI. Prevalence of popliteal cysts was 57% in arthritic knees, 58% with hypermobility syndrome, and 28% without risk factors. Only one patient had a trauma history and showed an ipsilateral cyst. Mean cyst volume was 3.4?mL; cysts were larger in boys. Patients with arthritis had echogenic cysts in 53%. Cyst communication with the joint space was seen in 64% on ultrasonography and 86% on MRI. In conclusion, Baker cysts are a common finding in a clinically preselected paediatric population. Children with Baker cysts should be assessed for underlying arthritis and inherited joint hypermobility, while sporadic Baker cysts appear to be common, as well.
Neubauer, Henning; Morbach, Henner; Schwarz, Tobias; Wirth, Clemens; Girschick, Hermann; Beer, Meinrad
Clinical Features of Bacterial Vaginosis in a Murine Model of Vaginal Infection with Gardnerella vaginalis
Bacterial vaginosis (BV) is a dysbiosis of the vaginal flora characterized by a shift from a Lactobacillus-dominant environment to a polymicrobial mixture including Actinobacteria and Gram-negative bacilli. BV is a common vaginal condition in women and is associated with increased risk of sexually transmitted infection and adverse pregnancy outcomes such as preterm birth. Gardnerella vaginalis is one of the most frequently isolated bacterial species in BV. However, there has been much debate in the literature concerning the contribution of G. vaginalis to the etiology of BV, since it is also present in a significant proportion of healthy women. Here we present a new murine vaginal infection model with a clinical isolate of G. vaginalis. Our data demonstrate that this model displays key features used clinically to diagnose BV, including the presence of sialidase activity and exfoliated epithelial cells with adherent bacteria (reminiscent of clue cells). G. vaginalis was capable of ascending uterine infection, which correlated with the degree of vaginal infection and level of vaginal sialidase activity. The host response to G. vaginalis infection was characterized by robust vaginal epithelial cell exfoliation in the absence of histological inflammation. Our analyses of clinical specimens from women with BV revealed a measureable epithelial exfoliation response compared to women with normal flora, a phenotype that, to our knowledge, is measured here for the first time. The results of this study demonstrate that G. vaginalis is sufficient to cause BV phenotypes and suggest that this organism may contribute to BV etiology and associated complications. This is the first time vaginal infection by a BV associated bacterium in an animal has been shown to parallel the human disease with regard to clinical diagnostic features. Future studies with this model should facilitate investigation of important questions regarding BV etiology, pathogenesis and associated complications.
Gilbert, Nicole M.; Lewis, Warren G.; Lewis, Amanda L.
Microvascular Coronary Artery Spasm Presents Distinctive Clinical Features With Endothelial Dysfunction as Nonobstructive Coronary Artery Disease
Background Angina without significant stenosis, or nonobstructive coronary artery disease, attracts clinical attention. Microvascular coronary artery spasm (microvascular CAS) can cause nonobstructive coronary artery disease. We investigated the clinical features of microvascular CAS and the therapeutic efficacy of calcium channel blockers. Methods and Results Three hundred seventy consecutive, stable patients with suspected angina presenting nonobstructive coronary arteries (<50% diameter) in coronary angiography were investigated with the intracoronary acetylcholine provocation test, with simultaneous measurements of transcardiac lactate production and of changes in the quantitative coronary blood flow. We diagnosed microvascular CAS according to lactate production and a decrease in coronary blood flow without epicardial vasospasm during the acetylcholine provocation test. We prospectively followed up the patients with calcium channel blockers for microvascular coronary artery disease. We identified 50 patients with microvascular CAS who demonstrated significant impairment of the endothelium-dependent vascular response, which was assessed by coronary blood flow during the acetylcholine provocation test. Administration of isosorbide dinitrate normalized the abnormal coronary flow pattern in the patients with microvascular CAS. Multivariate logistic regression analysis indicated that female sex, a lower body mass index, minor�borderline ischemic electrocardiogram findings at rest, limited�baseline diastolic-to-systolic velocity ratio, and attenuated adenosine triphosphate�induced coronary flow reserve were independently correlated with the presence of microvascular CAS. Receiver-operating characteristics curve analysis revealed that the aforementioned 5-variable model showed good correlation with the presence of microvascular CAS (area under the curve: 0.820). No patients with microvascular CAS treated with calcium channel blockers developed cardiovascular events over 47.8�27.5 months. Conclusions Microvascular CAS causes distinctive clinical features and endothelial dysfunction that are important to recognize as nonobstructive coronary artery disease so that optimal care with calcium channel blockers can be provided. Clinical Trial Registration URL: www.umin.ac.jp/ctr. Unique identifier: UMIN000003839.
Ohba, Keisuke; Sugiyama, Seigo; Sumida, Hitoshi; Nozaki, Toshimitsu; Matsubara, Junichi; Matsuzawa, Yasushi; Konishi, Masaaki; Akiyama, Eiichi; Kurokawa, Hirofumi; Maeda, Hirofumi; Sugamura, Koichi; Nagayoshi, Yasuhiro; Morihisa, Kenji; Sakamoto, Kenji; Tsujita, Kenichi; Yamamoto, Eiichiro; Yamamuro, Megumi; Kojima, Sunao; Kaikita, Koichi; Tayama, Shinji; Hokimoto, Seiji; Matsui, Kunihiko; Sakamoto, Tomohiro; Ogawa, Hisao
Clinical Features of Carotid-cavernous Sinus Fistulas in 23 Patients.
Objective To analyze the clinical features of carotid-cavernous sinus fistulas(CCFs).Methods The medical records of 23 patients with CCFs,which was confirmed by conventional cerebral angiography,in Peking Union Medical College Hospital from January 1990 to October 2012 were retrospectively analyzed.Data including patient characteristics,clinical features on ophthalmic examination,neurological assessment,and imaging study were collected.The differences between the direct and the indirect CCFs were compared,and the reasons for misdiagnoses were analyzed.Results Most patients were presented with ocular symptoms(78.3%).The most common signs were conjunctival injection or chemosis(78.3%),proptosis(69.6%),and ocular motor palsies(56.5%).There were 13(56.5%)direct CCFs and 10(43.5%)indirect CCFs,and a history of encephalic trauma was more frequently reported among the former(61.5%)than the latter(10.0%);also,intracranial vascular murmur was more prevalent in patients with direct CCFs(69.2%vs.20.0%).Nine patients were misdiagnosed as other ocular diseases.Nonspecific clinical symptoms and signs such as chemosis,elevated intraocular pressure,and diplopia were the common causes of the misdiagnoses.Conclusions Misdiagnosis of CCFs remains common due to its diverse clinical manifestations.CCFs should be suspected in patients with refractory red eyes,intraocular pressure elevation,proptosis and/or ophthalmoplegia,and a detailed history-taking,careful physical examination,and adequate imaging may minimize the misdiagnosis. PMID:24791795
Yi-Wei, Wang; Yong, Zhong; Jin, Ma; Ning, Yang; Ke-Fei, Wang; Yang, Jiang
Clinical features of bacterial vaginosis in a murine model of vaginal infection with Gardnerella vaginalis.
Bacterial vaginosis (BV) is a dysbiosis of the vaginal flora characterized by a shift from a Lactobacillus-dominant environment to a polymicrobial mixture including Actinobacteria and gram-negative bacilli. BV is a common vaginal condition in women and is associated with increased risk of sexually transmitted infection and adverse pregnancy outcomes such as preterm birth. Gardnerella vaginalis is one of the most frequently isolated bacterial species in BV. However, there has been much debate in the literature concerning the contribution of G. vaginalis to the etiology of BV, since it is also present in a significant proportion of healthy women. Here we present a new murine vaginal infection model with a clinical isolate of G. vaginalis. Our data demonstrate that this model displays key features used clinically to diagnose BV, including the presence of sialidase activity and exfoliated epithelial cells with adherent bacteria (reminiscent of clue cells). G. vaginalis was capable of ascending uterine infection, which correlated with the degree of vaginal infection and level of vaginal sialidase activity. The host response to G. vaginalis infection was characterized by robust vaginal epithelial cell exfoliation in the absence of histological inflammation. Our analyses of clinical specimens from women with BV revealed a measureable epithelial exfoliation response compared to women with normal flora, a phenotype that, to our knowledge, is measured here for the first time. The results of this study demonstrate that G. vaginalis is sufficient to cause BV phenotypes and suggest that this organism may contribute to BV etiology and associated complications. This is the first time vaginal infection by a BV associated bacterium in an animal has been shown to parallel the human disease with regard to clinical diagnostic features. Future studies with this model should facilitate investigation of important questions regarding BV etiology, pathogenesis and associated complications. PMID:23527214
Gilbert, Nicole M; Lewis, Warren G; Lewis, Amanda L
[Clinical features and management of acute myositis in idiopathic orbital inflammation].
Acute myositis is the second most common component of non-specific orbital inflammation. We will describe its clinical features and natural history. This is a retrospective study of 10 cases. The diagnosis of acute myositis was based on clinical and imaging criteria. Our study includes five men and five women. The average age was 35.8 years (17-59 years). Clinical symptoms were: pain increased on eye movement (10/10), diplopia (4/10), proptosis (6/10), visual loss (3/10), lid edema (6/10), conjunctival hyperemia (7/10), anterior scleritis (2/10), episcleritis (2/10), chemosis (4/10), upper lid retraction (1/10), limitation of eye movement (3/10), fundus abnormalities (2/10). Imaging showed thickening of one or more extraocular muscles (10/10). Recovery was complete with anti-inflammatory therapy in six patients. Three patients experienced recurrence, and one patient had a clinical rebound upon tapering the treatment. Acute myositis can be defined by pain on eye movement, signs of inflammation, and extraocular muscle thickening on imaging. If the clinical presentation is typical, histopathological analysis can be deferred but remains necessary in cases of poor response to treatment, chronic duration or suspicion of tumor infiltration. The diagnosis of acute myositis may be suspected in the presence of consistent, well-defined clinical signs. Contiguous inflammation is often associated. Treatment is based on steroids or non-steroidal treatment anti-inflammatory therapy, administered alone or consecutively. Recurrences are frequent but do not alter the final prognosis. PMID:23684995
Halimi, E; Rosenberg, R; Wavreille, O; Bouckehove, S; Franquet, N; Labalette, P
Clinical, diagnostic and biochemical features of generalised glycogenosis type II in Brahman cattle.
Clinical, diagnostic and biochemical features of generalised glycogenosis are described in 96 Brahman-type calves. Typically the calves were presented when about 6 months of age, with ill-thrift and muscular weakness as the most common signs. Acidic alpha-glucosidase activity was reduced in peripheral blood lymphocytes and skeletal muscle. Muscle glycogen concentration was consistently higher in affected animals than in clinically normal cattle. Other observations in affected calves included elevation of serum aspartate aminotransferase and creatine kinase activities and excessive amounts of high molecular weight oligosaccharides in urine. Fine cytoplasmic vacuolation of neurones in the brain and spinal cord, skeletal muscle, myocardium and of Purkinje fibres were consistent histological observations. Periodic acid-Schiff staining revealed the presence of glycogen-like material in peripheral blood lymphocytes of all affected calves, indicating that this is a useful aid for the diagnosis of glycogenosis. While 3 of the 96 calves showed somewhat different clinical signs, the similarity of pathology and the biochemical and clinical evidence in the remainder suggested that, in these animals, the disease was expressed as a single syndrome. PMID:8280022
Reichmann, K G; Twist, J O; Thistlethwaite, E J
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.
It is widely held that changes in the distribution of mutant mtDNAs underlie the progressive nature of mtDNA diseases, but there are few data documenting such changes. We compared the levels of 3243 A-->G mutant mtDNA in blood at birth from Guthrie cards and at the time of diagnosis in a blood DNA sample from patients with mitochondrial encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome. Paired blood DNA samples separated by 9-19 years were obtained from six patients with MELAS. Quantification of mutant load, by means of a solid-phase minisequencing technique, demonstrated a decline (range 12%-29%) in the proportion of mutant mtDNA in all cases (P=.0015, paired t-test). These results suggest that mutant mtDNA is slowly selected from rapidly dividing blood cells in MELAS. PMID:11085913
Rahman, S; Poulton, J; Marchington, D; Suomalainen, A
Effects of nitric oxide donors on cybrids harbouring the mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) A3243G mitochondrial DNA mutation
Reactive nitrogen and oxygen species (O2�?, H2O2, NO� and ONOO?) have been strongly implicated in the pathophysiology of neurodegenerative and mitochondrial diseases. In the present study, we examined the effects of nitrosative and/or nitrative stress generated by DETA-NO {(Z)-1-[2-aminoethyl-N-(2-ammonioethyl)amino]diazen-1-ium-1,2-diolate}, SIN-1 (3-morpholinosydnonimine hydrochloride) and SNP (sodium nitroprusside) on U87MG glioblastoma cybrids carrying wt (wild-type) and mutant [A3243G (Ala3243?Gly)] mtDNA (mitochondrial genome) from a patient suffering from MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). The mutant cybrids had reduced activity of cytochrome c oxidase, significantly lower ATP level and decreased mitochondrial membrane potential. However, endogenous levels of reactive oxygen species were very similar in all cybrids regardless of whether they carried the mtDNA defects or not. Furthermore, the cybrids were insensitive to the nitrosative and/or nitrative stress produced by either DETA-NO or SIN-1 alone. Cytotoxicity, however, was observed in response to SNP treatment and a combination of SIN-1 and glucose-deprivation. The mutant cybrids were significantly more sensitive to these insults compared with the wt controls. Ultrastructural examination of dying cells revealed several characteristic features of autophagic cell death. We concluded that nitrosative and/or nitrative stress alone were insufficient to trigger cytotoxicity in these cells, but cell death was observed with a combination of metabolic and nitrative stress. The vulnerability of the cybrids to these types of injury correlated with the cellular energy status, which were compromised by the MELAS mutation.
Clinical Features and Types of Von Willebrand Disease in Women with Menorrhagia Referred to Hematology Clinic of Kermanshah
Menorrhagia is the most common symptom that is experienced by women with bleeding disorders. Von Willebrand disease (VWD) is the most common congenital human bleeding disorder that is manifested as a quantitative deficiency in Von Willebrand factor (VWF) or dysfunction of this factor. The frequency of VWD is similar in both men and women. However, VWD is more readily detected in women due to the presence of severe bleeding associated with menstrual cycles and childbirth. The present study was carried out to find the frequency of VWD, its types, and clinical features of the disease among women with menorrhagia who referred to the Hematology Clinic of the Kermanshah University of Medical Sciences. The study comprised 482 women with menorrhagia. After excluding patients with confounding factors, 56 (11.6%) patients were evaluated for inherited bleeding disorders. We detected 31 (55.3%) patients with VWD. Type 3 of VWD was the most frequent subtype (45.2%) followed in frequency by type 2 (32.3%), and type 1 (22.5%). In conclusion, our study indicated that menorrhagia can be the first symptom of VWD. Therefore, rare coagulation disorders should be considered in women with idiopathic menorrhagia, particularly in regions with high rates of consanguinity.
Payandeh, Mehrdad; Rahimi, Zohreh; Kansestani, Atefeh Nasir; Hemmati, Shahrooz; Aleyasin, Mahnaz; Zare, Mohammad Erfan; Nouri, Zohreh; Hashemian, Amir Hossein; Gohardehi, Farzad
Community-Acquired versus Nosocomial Klebsiella pneumoniae Bacteremia: Clinical Features, Treatment Outcomes, and Clinical Implication of Antimicrobial Resistance
We conducted this study to compare clinical features, outcomes, and clinical implication of antimicrobial resistance in Klebsiella pneumoniae bacteremia acquired as community vs. nosocomial infection. A total of 377 patients with K. pneumoniae bacteremia (191 community-acquired and 186 nosocomial) were retrospectively analyzed. Neoplastic diseases (hematologic malignancy and solid tumor, 56%) were the most commonly associated conditions in patients with nosocomial bacteremia, whereas chronic liver disease (35%) and diabetes mellitus (20%) were the most commonly associated conditions in patients with community-acquired bacteremia. Bacteremic liver abscess occurred almost exclusively in patients with community-acquired infection. The overall 30-day mortality was 24% (91/377), and the mortality of nosocomial bacteremia was significantly higher than that of community-acquired bacteremia (32% vs. 16%, p<0.001). Of all community-acquired and nosocomial isolates, 4% and 33%, respectively, were extended-spectrum cephalosporin (ESC)-resistant, and 4% and 21%, respectively, were ciprofloxacin (CIP)-resistant. In nosocomial infections, prior uses of ESC and CIP were found to be independent risk factors for ESC and CIP resistance, respectively. Significant differences were identified between community-acquired and nosocomial K. pneumoniae bacteremia, and the mortality of nosocomial infections was more than twice than that of community-acquired infections. Antimicrobial resistance was a widespread nosocomial problem and also identified in community-acquired infections.
Kang, Cheol-In; Kim, Sung-Han; Bang, Ji-Whan; Kim, Hong-Bin; Kim, Nam-Joong; Kim, Eui-Chong; Choe, Kang-Won
Age at onset and clinical features of late life compulsive hoarding
Objectives Compulsive hoarding is a debilitating, chronic disorder, yet we know little about its onset, clinical features, or course throughout the life span. Hoarding symptoms often come to clinical attention when patients are in late life, and case reports of elderly hoarders abound. Yet no prior study has examined whether elderly compulsive hoarders have early or late onset of hoarding symptoms, whether their hoarding symptoms are idiopathic or secondary to other conditions, or whether their symptoms are similar to compulsive hoarding symptoms seen in younger and middle-aged populations. The objectives of this study were to determine the onset and illustrate the course and clinical features of late life compulsive hoarding, including psychiatric and medical comorbitities. Methods Participants were 18 older adults (?60) with clinically significant compulsive hoarding. They were assessed using structured interviews, including the Mini International Neuropsychiatric Interview (MINI), Structured Clinical Interview for DSM-IV (SCID I), Yale�Brown Obsessive Compulsive Scale (YBOCS), and UCLA Hoarding Severity Scale (UHSS). Self-report Measures Included the Beck Anxiety Inventory (BAI), Beck Depression Inventory (BDI), Sheehan Disability Scale (SDS), and Savings Inventory-Revised (SI-R). Psychosocial and medical histories were also obtained. To determine age at onset, participants were asked to rate their hoarding symptoms and describe major life events that occurred during each decade of their lives. Results Results show that (1) onset of compulsive hoarding symptoms was initially reported as being in mid-life but actually found to be in childhood or adolescence. No subjects reported late onset compulsive hoarding. (2) Compulsive hoarding severity increased with each decade of life. (3) Comorbid mood and anxiety disorders were common, but only 16% of patients met criteria for OCD if hoarding symptoms were not counted toward the diagnosis. (4) The vast majority of patients had never received treatment for hoarding. (5) Older adults with compulsive hoarding were usually socially impaired and living alone. Conclusions Compulsive hoarding is a progressive and chronic condition that begins early in life. Left untreated, its severity increases with age. Compulsive hoarding should be considered a distinct clinical syndrome, separate from OCD. Unfortunately, compulsive hoarding is largely unrecognized and untreated in older adults.
Ayers, Catherine R.; Saxena, Sanjaya; Golshan, Shahrokh; Wetherell, Julie Loebach
Primary vs. Secondary Antibody Deficiency: Clinical Features and Infection Outcomes of Immunoglobulin Replacement
Secondary antibody deficiency can occur as a result of haematological malignancies or certain medications, but not much is known about the clinical and immunological features of this group of patients as a whole. Here we describe a cohort of 167 patients with primary or secondary antibody deficiencies on immunoglobulin (Ig)-replacement treatment. The demographics, causes of immunodeficiency, diagnostic delay, clinical and laboratory features, and infection frequency were analysed retrospectively. Chemotherapy for B cell lymphoma and the use of Rituximab, corticosteroids or immunosuppressive medications were the most common causes of secondary antibody deficiency in this cohort. There was no difference in diagnostic delay or bronchiectasis between primary and secondary antibody deficiency patients, and both groups experienced disorders associated with immune dysregulation. Secondary antibody deficiency patients had similar baseline levels of serum IgG, but higher IgM and IgA, and a higher frequency of switched memory B cells than primary antibody deficiency patients. Serious and non-serious infections before and after Ig-replacement were also compared in both groups. Although secondary antibody deficiency patients had more serious infections before initiation of Ig-replacement, treatment resulted in a significant reduction of serious and non-serious infections in both primary and secondary antibody deficiency patients. Patients with secondary antibody deficiency experience similar delays in diagnosis as primary antibody deficiency patients and can also benefit from immunoglobulin-replacement treatment.
Duraisingham, Sai S.; Buckland, Matthew; Dempster, John; Lorenzo, Lorena; Grigoriadou, Sofia; Longhurst, Hilary J.
Clinical features and prognosis of patients with extrahepatic metastases from hepatocellular carcinoma
AIM: To assess the clinical features and prognosis of 151 patients with extrahepatic metastases from primary hepatocellular carcinoma (HCC), and describe the treatment strategy for such patients. METHODS: After the diagnosis of HCC, all 995 consecutive HCC patients were followed up at regular intervals and 151 (15.2%) patients were found to have extrahepatic metastases at the initial diagnosis of primary HCC or developed such tumors during the follow-up period. We assessed their clinical features, prognosis, and treatment strategies. RESULTS: The most frequent site of extrahepatic metastases was the lungs (47%), followed by lymph nodes (45%), bones (37%), and adrenal glands (12%). The cumulative survival rates after the initial diagnosis of extrahepatic metastases at 6, 12, 24, and 36 mo were 44.1%, 21.7%, 14.2%, 7.1%, respectively. The median survival time was 4.9 mo (range, 0-37 mo). Fourteen patients (11%) died of extrahepatic HCC, others died of primary HCC or liver failure. CONCLUSION: The prognosis of HCC patients with extrahepatic metastases is poor. With regard to the cause of death, many patients would die of intrahepatic HCC and few of extrahepatic metastases. Although most of HCC patients with extrahepatic metastases should undergo treatment for the primary HCC mainly, treatment of extrahepatic metastases in selected HCC patients who have good hepatic reserve, intrahepatic tumor stage (T0-T2), and are free of portal venous invasion may improve survival.
Uka, Kiminori; Aikata, Hiroshi; Takaki, Shintaro; Shirakawa, Hiroo; Jeong, Soo Cheol; Yamashina, Keitaro; Hiramatsu, Akira; Kodama, Hideaki; Takahashi, Shoichi; Chayama, Kazuaki
Clinical and computed tomography features of adult abdominopelvic desmoplastic small round cell tumor.
To investigate the clinical and computed tomography (CT) features of desmoplastic small round cell tumor (DSRCT), we retrospectively analyzed the clinical presentations, treatment and outcome, as well as CT manifestations of four cases of DSRCT confirmed by surgery and pathology. The CT manifestations of DSRCT were as follows: (1) multiple soft-tissue masses or diffuse peritoneal thickening in the abdomen and pelvis, with the dominant mass usually located in the pelvic cavity; (2) masses without an apparent organ-based primary site; (3) mild to moderate homogeneous or heterogeneous enhancement in solid area on enhanced CT; and (4) secondary manifestations, such as ascites, hepatic metastases, lymphadenopathy, hydronephrosis and hydroureter. The prognosis and overall survival rates were generally poor. Commonly used treatment strategies including aggressive tumor resection, polychemotherapy, and radiotherapy, showed various therapeutic effects. CT of DSRCT shows characteristic features that are helpful in diagnosis. Early discovery and complete resection, coupled with postoperative adjuvant chemotherapy, are important for prognosis of DSRCT. Whole abdominopelvic rather than locoregional radiotherapy is more effective for unresectable DSRCT. PMID:24803835
Shen, Xun-Ze; Zhao, Jian-Guo; Wu, Jian-Jun; Liu, Fang
Clinical features of axillary osmidrosis: a retrospective chart review of 723 Japanese patients.
Axillary osmidrosis often disturbs a person's social life, particularly in Asian countries. However, the clinical aspects of this condition have not been well documented in the English-language published work. This study aimed to provide information on the features of axillary osmidrosis, with a particular focus on sex differences. A retrospective review was made of the charts for 723 Japanese patients (492 female, 231 male). The mean age at initial presentation (29.1�years) was nearly the same for males and females. Almost all patients (96.1%) had wet earwax, which was extremely high compared to its frequency in the general Japanese population. An association with hyperhidrosis was seen in 61.8% of these patients. Subjective odor levels in female patients were significantly lower than those in males (P�<�0.001). A positive family history was more frequent for females than for males (P�<�0.001), and prior treatment history was also more frequent for females than for males (P�<�0.015). Most patients (86.6%) had received some treatments in our clinic. There were significantly fewer females who underwent surgical treatments compared to males (P�=�0.026), as females preferred less invasive techniques (P�<�0.001). Several features, including male/female ratios, and associations of wet earwax and hyperhidrosis, corresponded to previously reported data on axillary osmidrosis. Female patients were more concerned with axillary odor than males, and females had a tendency for polysurgery. PMID:23451913
Morioka, Daichi; Ohkubo, Fumio; Amikura, Yoshiyasu
Clinical and computed tomography features of adult abdominopelvic desmoplastic small round cell tumor
To investigate the clinical and computed tomography (CT) features of desmoplastic small round cell tumor (DSRCT), we retrospectively analyzed the clinical presentations, treatment and outcome, as well as CT manifestations of four cases of DSRCT confirmed by surgery and pathology. The CT manifestations of DSRCT were as follows: (1) multiple soft-tissue masses or diffuse peritoneal thickening in the abdomen and pelvis, with the dominant mass usually located in the pelvic cavity; (2) masses without an apparent organ-based primary site; (3) mild to moderate homogeneous or heterogeneous enhancement in solid area on enhanced CT; and (4) secondary manifestations, such as ascites, hepatic metastases, lymphadenopathy, hydronephrosis and hydroureter. The prognosis and overall survival rates were generally poor. Commonly used treatment strategies including aggressive tumor resection, polychemotherapy, and radiotherapy, showed various therapeutic effects. CT of DSRCT shows characteristic features that are helpful in diagnosis. Early discovery and complete resection, coupled with postoperative adjuvant chemotherapy, are important for prognosis of DSRCT. Whole abdominopelvic rather than locoregional radiotherapy is more effective for unresectable DSRCT.
Shen, Xun-Ze; Zhao, Jian-Guo; Wu, Jian-Jun; Liu, Fang
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B
Objective and methods Dysferlin encoded by DYSF deficiency leads to two main phenotypes, limb girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy. To reveal in detail the mutational and clinical features of LGMD2B in Japan, we observed 40 Japanese patients in 36 families with LGMD2B in whom dysferlin mutations were confirmed. Results and conclusions Three mutations (c.1566C>G, c.2997G>T and c.4497delT) were relatively more prevalent. The c.2997G>T mutation was associated with late onset, proximal dominant forms of dysferlinopathy, a high probability that muscle weakness started in an upper limb and lower serum creatine kinase (CK) levels. The clinical features of LGMD2B are as follows: (1) onset in the late teens or early adulthood, except patients homozygous for the c.2997G>T mutation; (2) lower limb weakness at onset; (3) distal change of lower limbs on muscle CT at an early stage; (4) impairment of lumbar erector spinal muscles on muscle CT at an early stage; (5) predominant involvement of proximal upper limbs; (6) preservation of function of the hands at late stage; (7) preservation of strength in neck muscles at late stage; (8) lack of facial weakness or dysphagia; (9) avoidance of scoliosis; (10) hyper-Ckaemia; (11) preservation of cardiac function; and (12) a tendency for respiratory function to decline with disease duration. It is important that the late onset phenotype is found with prevalent mutations.
Takahashi, Toshiaki; Aoki, Masashi; Suzuki, Naoki; Tateyama, Maki; Yaginuma, Chikako; Sato, Hitomi; Hayasaka, Miho; Sugawara, Hitomi; Ito, Mariko; Abe-Kondo, Emi; Shimakura, Naoko; Ibi, Tohru; Kuru, Satoshi; Wakayama, Tadashi; Sobue, Gen; Fujii, Naoki; Saito, Toshio; Matsumura, Tsuyoshi; Funakawa, Itaru; Mukai, Eiichiro; Kawanami, Toru; Morita, Mitsuya; Yamazaki, Mineo; Hasegawa, Takashi; Shimizu, Jun; Tsuji, Shoji; Kuzuhara, Shigeki; Tanaka, Hiroyasu; Yoshioka, Masaru; Konno, Hidehiko; Onodera, Hiroshi; Itoyama, Yasuto
Clinical features of patients with myasthenia gravis associated with autoimmune diseases.
We investigated the incidence and clinical features of patients with myasthenia gravis (MG) associated with autoimmune diseases. Associated autoimmune diseases were found in 28 of 142 consecutive Japanese MG patients (19.7%), amongst which Graves' disease (7.7%) and Hashimoto's thyroiditis (4.2%) were predominant. The clinical features of MG patients with Graves' disease were different from those of MG patients without autoimmune diseases in terms of age at onset of MG symptoms (35.5 +/- 4.0 years and 49.0 +/- 1.7 years; P < 0.05), positivity for the anti-acetylcholine receptor antibody (44.4% and 89.8%; P < 0.05), and association with thymic hyperplasia (72.7 and 17.9%; P < 0.05). The therapeutic outcome of MG patients with Graves' disease and that of those without autoimmune diseases were not significantly different. Further studies should be performed to investigate whether MG associated with Graves' disease is a distinct subtype of MG. PMID:17941854
Kanazawa, M; Shimohata, T; Tanaka, K; Nishizawa, M
Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients
Purpose: Mutations of the ?-1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). To date, over 300 mutations related to SMEI have been described. In the present study, we report new SCN1A mutations and the clinical features of SMEI cases. Materials and Methods: We studied the clinical and genetic features of nine patients diagnosed with SMEI at the Pediatric Neurology Department of Istanbul Medical Faculty. Results: Five patients had nonsense mutations, two had missense mutations, one had a splice site mutation and one had a deletion mutation of the SCN1A gene. Mutations at c.3705+5G splice site, p.trip153X nonsense mutation and deletion at c.2416_2946 have not been previously described. The seizures started following whole cell pertussis vaccination in all patients. The seizures ceased in one patient and continued in the other eight patients. Developmental regression was severe in three patients, with frequent status epilepticus. The type of mutation was not predictive for the severity of the disease. Two of the three patients with severe regression had nonsense and missense mutations. Conclusions: Dravet syndrome can be result of several different types of mutation in SCN1A gene. Onset of the seizures after pertussis vaccination is an important clue for the diagnosis and neuro- developmental delay should be expected in all patients.
Ozmen, Meral; Dilber, Cengiz; Tatl?, Burak; Ayd?nl?, Nur; Cal?skan, Mine; Ekici, Bar?s
Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency
Autosomal recessive interleukin-1 receptor-associated kinase (IRAK)-4 and myeloid differentiation factor (MyD)88 deficiencies impair Toll-like receptor (TLR)- and interleukin-1 receptor-mediated immunity. We documented the clinical features and outcome of 48 patients with IRAK-4 deficiency and 12 patients with MyD88 deficiency, from 37 kindreds in 15 countries. The clinical features of IRAK-4 and MyD88 deficiency were indistinguishable. There were no severe viral, parasitic, and fungal diseases, and the range of bacterial infections was narrow. Noninvasive bacterial infections occurred in 52 patients, with a high incidence of infections of the upper respiratory tract and the skin, mostly caused by Pseudomonas aeruginosa and Staphylococcus aureus, respectively. The leading threat was invasive pneumococcal disease, documented in 41 patients (68%) and causing 72 documented invasive infections (52.2%). P. aeruginosa and Staph. aureus documented invasive infections also occurred (16.7% and 16%, respectively, in 25% and 25% of patients). Systemic signs of inflammation were usually weak or delayed. The first invasive infection occurred before the age of 2 years in 53 (88.3%) and in the neonatal period in 19 (32.7%) patients. Multiple or recurrent invasive infections were observed in most survivors (n = 36/50, 72%).
Picard, Capucine; von Bernuth, Horst; Ghandil, Pegah; Chrabieh, Maya; Levy, Ofer; Arkwright, Peter D.; McDonald, Douglas; Geha, Raif S.; Takada, Hidetoshi; Krause, Jens C.; Creech, C. Buddy; Ku, Cheng-Lung; Ehl, Stephan; Marodi, Laszlo; Al-Muhsen, Saleh; Al-Hajjar, Sami; Al-Ghonaium, Abdulaziz; Day-Good, Noorbibi K.; Holland, Steven M.; Gallin, John; Chapel, Helen; Speert, David P.; Rodriguez-Gallego, Carlos; Colino, Elena; Garty, Ben-Zion; Roifman, Chaim; Hara, Toshiro; Yoshikawa, Hideto; Nonoyama, Shigeaki; Domachowske, Joseph; Issekutz, Andrew C.; Tang, Mimi; Smart, Joanne; Zitnik, Simona Eva; Hoarau, Cyrille; Kumararatne, Dinakantha; Thrasher, Adrian; Davies, E. Graham; Bethune, Claire; Sirvent, Nicolas; de Ricaud, Dominique; Camcioglu, Yildiz; Vasconcelos, Julia; Guedes, Margarida; Vitor, Artur Bonito; Rodrigo, Carlos; AlmaYan, Francisco; Mendez, Maria; Arostegui, Juan Ignacio; Alsina, Laia; Fortuny, Claudia; Reichenbach, Janine; Verbsky, James W; Bossuyt, Xavier; Doffinger, Rainer; Abel, Laurent; Puel, Anne; Casanova, Jean-Laurent
Unique sequence features of the Human Adenovirus 31 complete genomic sequence are conserved in clinical isolates
Background Human adenoviruses (HAdV) are causing a broad spectrum of diseases. One of the most severe forms of adenovirus infection is a disseminated disease resulting in significant morbidity and mortality. Several reports in recent years have identified HAdV-31 from species A (HAdV-A31) as a cause of disseminated disease in children following haematopoetic stem cell transplantation (hSCT) and liver transplantation. We sequenced and analyzed the complete genome of the HAdV-A31 prototype strain to uncover unique sequence motifs associated with its high virulence. Moreover, we sequenced coding regions known to be essential for tropism and virulence (early transcription units E1A, E3, E4, the fiber knob and the penton base) of HAdV-A31 clinical isolates from patients with disseminated disease. Results The genome size of HAdV-A31 is 33763 base pairs (bp) in length with a GC content of 46.36%. Nucleotide alignment to the closely related HAdV-A12 revealed an overall homology of 84.2%. The genome organization into early, intermediate and late regions is similar to HAdV-A12. Sequence analysis of the prototype strain showed unique sequence features such as an immunoglobulin-like domain in the species A specific gene product E3 CR1 beta and a potentially integrin binding RGD motif in the C-terminal region of the protein IX. These features were conserved in all analyzed clinical isolates. Overall, amino acid sequences of clinical isolates were highly conserved compared to the prototype (99.2 to 100%), but a synonymous/non synonymous ratio (S/N) of 2.36 in E3 CR1 beta suggested positive selection. Conclusion Unique sequence features of HAdV-A31 may enhance its ability to escape the host's immune surveillance and may facilitate a promiscuous tropism for various tissues. Moderate evolution of clinical isolates did not indicate the emergence of new HAdV-A31 subtypes in the recent years.
Clinical features and pitfalls in the laboratory diagnosis of dengue in travellers
Background Several enzyme-linked immunosorbent assay (ELISA)-kits are commercially available for the rapid diagnosis of dengue infection, and have demonstrated good sensitivity and specificity in paired serum samples. In practice, however, often only one blood sample is available from febrile travellers returning from dengue endemic areas. Methods To evaluate the diagnostic value of positive dengue antibody-titres performed by a standard ELISA (PanBio IgM- and IgG-ELISA) in single serum samples (regarded as "probable infection"), 127 positive samples were further analyzed using envelope/membrane IgM-, and nonstructural protein 1 IgM- and IgG-ELISAs, immunofluorescence assays, and real-time reverse transcription polymerase chain reaction assays (RT-PCR). A combination of the test-results served as the diagnostic "gold standard". A total of 1,035 febrile travellers returning from dengue-endemic countries with negative dengue-serology and RT-PCR served as controls to compare clinical and haematological features. Results Overall, only 64 (positive predictive value = 50%) of the probable cases were confirmed by additional analysis and 54 (42.5%) were confirmed to be "false-positive". Rash was the only clinical feature significantly associated with confirmed dengue fever. The combination of thrombocytopenia and leucopenia was present in 40.4% of confirmed and in 6.1% of false-positive cases. Thus, the positive predictive value for the combination of positive PanBio-ELISA plus the two haematological features was 90.5%. Conclusion The examination of paired serum samples is considered the most reliable serodiagnostic procedure for dengue. However, if only one blood sample is available, a single positive ELISA-result carries a high rate of false-positivity and should be confirmed using a second and more specific diagnostic technique. In the absence of further testing, platelet and white blood cell counts are helpful for the correct interpretation.
Wichmann, Ole; Stark, Klaus; Shu, Pei-Yun; Niedrig, Matthias; Frank, Christina; Huang, Jyh-Hsiung; Jelinek, Tomas
The Clinical Features and Emotional Stressors in Korean Patients with Tako-Tsubo Cardiomyopathy
Background. Tako-tsubo cardiomyopathy (TTC) is typically triggered by an acute emotional or physical stress events. Aim of this study was to investigate the impact of emotional stressors on clinical features, laboratory parameters, electrocardiographic and echocardiographic findings in patients with TTC. Methods. Of 103 patients enrolled from the TTC registry database, fifteen patients had emotional triggers (E group), and 88 patients had physical triggers or no triggers (other group). Results. Most clinical presentations and in-hospital courses were similar between the groups. However, E group had higher prevalence of chest pain (87 versus 42 %, P = 0.001), palpitation (27 versus 6%, P = 0.008), whereas other group had higher prevalence of cardiogenic shock (35 versus 7%, P = 0.027). E group had significantly higher corrected QT intervals (median, 477.5 versus 438?ms, P = 0.001), and left ventricular ejection fraction (LVEF) (mean, 45.7 versus 39.6%, P = 0.001), but lower hs-CRP (median, 0.1 versus 3.3?mg/L, P = 0.001), CK-MB (median, 5.5 versus 11.9?ng/mL, P = 0.047), troponin-I (median, 1.0 versus 3.2?ng/mL, P = 0.011), and NT-proBNP levels (median, 2145 versus 4939?pg/mL, P = 0.020). Other group required more frequent hemodynamic support and had significantly longer intensive care unit (median, 3 versus 1 days, P = 0.005) and in-hospital (median, 17 versus 3 days, P = 0.001) durations. Conclusion. The clinical features of TTC are different between groups with and without preceding emotional stressors. The TTC group with preceding emotional stressors was more likely to have preserved cardiovascular reserve and lesser likely to require hemodynamic support than other group although the entire prognosis of TTC is excellent regardless of triggering stressors.
Song, Bong Gun; Oh, Ju Hyeon; Park, Yong Hwan; Kang, Gu Hyun; Chun, Woo Jung
Amebiasis in HIV-1-infected Japanese men: clinical features and response to therapy.
Invasive amebic diseases caused by Entamoeba histolytica are increasing among men who have sex with men and co-infection of ameba and HIV-1 is an emerging problem in developed East Asian countries. To characterize the clinical and epidemiological features of invasive amebiasis in HIV-1 patients, the medical records of 170 co-infected cases were analyzed retrospectively, and E. histolytica genotype was assayed in 14 cases. In this series of HIV-1-infected patients, clinical presentation of invasive amebiasis was similar to that described in the normal host. High fever, leukocytosis and high CRP were associated with extraluminal amebic diseases. Two cases died from amebic colitis (resulting in intestinal perforation in one and gastrointestinal bleeding in one), and three cases died from causes unrelated to amebiasis. Treatment with metronidazole or tinidazole was successful in the other 165 cases. Luminal treatment was provided to 83 patients following metronidazole or tinidazole treatment. However, amebiasis recurred in 6 of these, a frequency similar to that seen in patients who did not receive luminal treatment. Recurrence was more frequent in HCV-antibody positive individuals and those who acquired syphilis during the follow-up period. Various genotypes of E. histolytica were identified in 14 patients but there was no correlation between genotype and clinical features. The outcome of metronidazole and tinidazole treatment of uncomplicated amebiasis was excellent even in HIV-1-infected individuals. Luminal treatment following metronidazole or tinidazole treatment does not reduce recurrence of amebiasis in high risk populations probably due to amebic re-infection. PMID:21931875
Watanabe, Koji; Gatanaga, Hiroyuki; Escueta-de Cadiz, Aleyla; Tanuma, Junko; Nozaki, Tomoyoshi; Oka, Shinichi
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.
Dravet syndrome is a severe infantile onset epileptic encephalopathy associated with mutations in the sodium channel alpha 1 subunit gene SCN1A. To date no large studies have systematically examined the prognostic, clinical and demographic features of the disease. We prospectively collected data on a UK cohort of individuals with Dravet syndrome during a 5-year study period and analysed demographic information based on UK population and birth figures. From structured referral data we examined a range of clinical characteristics including epilepsy phenotype, seizure precipitants, electroencephalography data, imaging studies, mutation class and response to medication. Predictors of developmental outcome were determined by logistic regression. We identified 241 cases with SCN1A mutation-positive Dravet syndrome, 207 of which were UK-based. The incidence of mutation-positive Dravet syndrome is at least 1:40?900 UK births. Clinical features predicting a worse developmental outcome included status epilepticus (odds ratio?=?3.1; confidence interval?=?1.5-6.3; P?=?0.003), interictal electroencephalography abnormalities in the first year of life (odds ratio?=?5.7; confidence interval?=?1.9-16.8; P?=?0.002) and motor disorder (odds ratio?=?3.3; confidence interval?=?1.7-6.4; P?0.001). No significant effect was seen for seizure precipitants, magnetic resonance imaging abnormalities or mutation class (truncating versus missense). Abnormal magnetic resonance imaging was documented in 11% of cases, principally with findings of non-specific brain atrophy or hippocampal changes. Sodium valproate, benzodiazepines and topiramate were reported as being the most helpful medications at the time of referral. Aggravation of seizures was reported for carbamazepine and lamotrigine. The identification of factors influencing prognosis both aids counselling and encourages early, syndrome-specific therapy. Prevention of status epilepticus with regular medication and emergency protocols is important and may influence developmental outcome. PMID:22719002
Brunklaus, A; Ellis, R; Reavey, E; Forbes, G H; Zuberi, S M
Comparing patients with Apert and Crouzon syndromes--clinical features and cranio-maxillofacial surgical reconstruction.
Cranio-maxillofacial malformations, as seen in Crouzon and Apert syndromes, may impose an immense distress on both function and aesthetics of the person affected. The aims of this study were to describe and compare the main facial and intraoral features of patients with Apert and Crouzon syndromes, the clinical manifestations that may be present, additionally to the main syndromic traits, as well as the cranio-maxillofacial surgical treatment protocols followed.Twenty-three patients with Apert syndrome (6 males, 17 females), and 28 patients with Crouzon syndrome (20 males, 8 females) were evaluated for general medical aspects, craniofacial characteristics, dentoalveolar traits before and after the final orthognathic surgery, and types and timing of cranio-maxillofacial operations. Mental retardation, associated additional malformations, cleft palate, and extensive lateral palatal soft tissue swellings were more common in children with Apert syndrome. In both syndromes, clinical findings included concave profile, negative overjet, posterior crossbites, anterior openbite, and dental midline deviation, which were corrected in almost all cases with the final orthognathic surgery, with the exception of the lateral crossbites, including more than one tooth pair, which were persisting in about half of the cases. Cranial vault decompression and/or reshaping, midfacial and orbital advancement procedures, often in conjunction with a mandibular setback, were the most frequent cranio-maxillofacial operations performed. In conclusion, Apert syndrome is more asymmetric in nature and a more severe clinical entity than Crouzon syndrome. The syndromic dentofacial features of both conditions could be significantly improved after a series of surgical procedures in almost all cases with the exception of the posterior crossbites, with haIf of them persisting post-surgically. PMID:22611902
Stavropoulos, Dimitrios; Tarnow, Peter; Mohlin, Bengt; Kahnberg, Karl-Erik; Hagberg, Catharina
Amebiasis in HIV-1-Infected Japanese Men: Clinical Features and Response to Therapy
Invasive amebic diseases caused by Entamoeba histolytica are increasing among men who have sex with men and co-infection of ameba and HIV-1 is an emerging problem in developed East Asian countries. To characterize the clinical and epidemiological features of invasive amebiasis in HIV-1 patients, the medical records of 170 co-infected cases were analyzed retrospectively, and E. histolytica genotype was assayed in 14 cases. In this series of HIV-1-infected patients, clinical presentation of invasive amebiasis was similar to that described in the normal host. High fever, leukocytosis and high CRP were associated with extraluminal amebic diseases. Two cases died from amebic colitis (resulting in intestinal perforation in one and gastrointestinal bleeding in one), and three cases died from causes unrelated to amebiasis. Treatment with metronidazole or tinidazole was successful in the other 165 cases. Luminal treatment was provided to 83 patients following metronidazole or tinidazole treatment. However, amebiasis recurred in 6 of these, a frequency similar to that seen in patients who did not receive luminal treatment. Recurrence was more frequent in HCV-antibody positive individuals and those who acquired syphilis during the follow-up period. Various genotypes of E. histolytica were identified in 14 patients but there was no correlation between genotype and clinical features. The outcome of metronidazole and tinidazole treatment of uncomplicated amebiasis was excellent even in HIV-1-infected individuals. Luminal treatment following metronidazole or tinidazole treatment does not reduce recurrence of amebiasis in high risk populations probably due to amebic re-infection.
Watanabe, Koji; Gatanaga, Hiroyuki; Cadiz, Aleyla Escueta-de; Tanuma, Junko; Nozaki, Tomoyoshi; Oka, Shinichi
Aberrant expression of DNA damage response proteins is associated with breast cancer subtype and clinical features
Landmark studies of the status of DNA damage checkpoints and associated repair functions in preneoplastic and neoplastic cells has focused attention on importance of these pathways in cancer development, and inhibitors of repair pathways are in clinical trials for treatment of triple negative breast cancer. Cancer heterogeneity suggests that specific cancer subtypes will have distinct mechanisms of DNA damage survival, dependent on biological context. In this study, status of DNA damage response (DDR)-associated proteins was examined in breast cancer subtypes in association with clinical features; 479 breast cancers were examined for expression of DDR proteins ?H2AX, BRCA1, pChk2, and p53, DNA damage-sensitive tumor suppressors Fhit and Wwox, and Wwox-interacting proteins Ap2?, Ap2?, ErbB4, and correlations among proteins, tumor subtypes, and clinical features were assessed. In a multivariable model, triple negative cancers showed significantly reduced Fhit and Wwox, increased p53 and Ap2? protein expression, and were significantly more likely than other subtype tumors to exhibit aberrant expression of two or more DDR-associated proteins. Disease-free survival was associated with subtype, Fhit and membrane ErbB4 expression level and aberrant expression of multiple DDR-associated proteins. These results suggest that definition of specific DNA repair and checkpoint defects in subgroups of triple negative cancer might identify new treatment targets. Expression of Wwox and its interactor, ErbB4, was highly significantly reduced in metastatic tissues vs. matched primary tissues, suggesting that Wwox signal pathway loss contributes to lymph node metastasis, perhaps by allowing survival of tumor cells that have detached from basement membranes, as proposed for the role of Wwox in ovarian cancer spread.
Guler, Gulnur; Himmetoglu, Cigdem; Jimenez, Rafael E.; Geyer, Susan M.; Wang, Wenle P.; Costinean, Stefan; Pilarski, Robert T.; Morrison, Carl; Suren, Dinc; Liu, Jianhua; Chen, Jingchun; Kamal, Jyoti; Shapiro, Charles L.
Quantitative Measurement of Cerebral Oxygen Extraction Fraction Using MRI in Patients with MELAS
Objective To quantify the cerebral OEF at different phases of stroke-like episodes in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) by using MRI. Methods We recruited 32 patients with MELAS confirmed by gene analysis. Conventional MRI scanning, as well as functional MRI including arterial spin labeling and oxygen extraction fraction imaging, was undertaken to obtain the pathological and metabolic information of the brains at different stages of stroke-like episodes in patients. A total of 16 MRI examinations at the acute and subacute phase and 19 examinations at the interictal phase were performed. In addition, 24 healthy volunteers were recruited for control subjects. Six regions of interest were placed in the anterior, middle, and posterior parts of the bilateral hemispheres to measure the OEF of the brain or the lesions. Results OEF was reduced significantly in brains of patients at both the acute and subacute phase (0.266 � 0.026) and at the interictal phase (0.295 � 0.009), compared with normal controls (0.316 � 0.025). In the brains at the acute and subacute phase of the episode, 13 ROIs were prescribed on the stroke-like lesions, which showed decreased OEF compared with the contralateral spared brain regions. Increased blood flow was revealed in the stroke-like lesions at the acute and subacute phase, which was confined to the lesions. Conclusion MRI can quantitatively show changes in OEF at different phases of stroke-like episodes. The utilization of oxygen in the brain seems to be reduced more severely after the onset of episodes in MELAS, especially for those brain tissues involved in the episodes.
Yu, Lei; Xie, Sheng; Xiao, Jiangxi; Wang, Zhaoxia; Zhang, Xiaodong
Clinical features of gastrointestinal follicular lymphoma: comparison with nodal follicular lymphoma and gastrointestinal MALT lymphoma.
We retrospectively compared the clinicopathological features of primary intestinal follicular lymphomas (FL-GIs), nodal follicular lymphomas (FL-LNs) and gastrointestinal MALT lymphomas (MALT-GIs), and investigated the distribution and the endoscopic appearances of FL-GI to evaluate the effectiveness of treatment modality. The subjects were 28 FL-GI patients, 135 FL-LN patients and 70 MALT-GI patients. In FL-LNs the clinical stage III-IV was 83%, while in FL-GIs clinical stage I-II was 68%. In MALT-GIs clinical stage I-II was 87%. The overall survival was significantly better in MALT-GI patients than in FL-LN patients. All FL-GI patients were alive at the time of evaluation. Regarding the histological grade (WHO), grade 1 was 81% in FL-GI, whereas in FL-LN grade 2 was 28% and grade 3 was 11%. The Follicular Lymphoma International Prognostic Index was low in 61% of FL-GIs, while in FL-LNs it was equally distributed to low, intermediate and high, suggesting that the prognosis is better in FL-GIs than in FL-LNs. The clinicopathological studies revealed the FL-GI has intermediate characteristics between FL-LN and MALT-GI. We recommend a 'watch-and-wait' policy or chemotherapy with rituximab for the therapy of FL-GIs because the lesions are often located in broader areas from the lower duodenum to the small intestine. PMID:21266815
Tari, Akira; Asaoku, Hideki; Kunihiro, Masaki; Tanaka, Shinji; Fujihara, Megumu; Yoshino, Tadashi
Clinical features and management of recurrent balanitis; association with atopy and genital washing.
OBJECTIVE--To evaluate clinical features and diagnostic investigations in patients with recurrent or unresponsive balanitis in order to institute rational management. DESIGN--Forty-three patients presenting to a genitourinary medicine clinic with recurrent or persistent balanitis were studied. All patients were asked whether they had a history of atopic illness and about their practice of genital washing. All patients were investigated by taking a swab specimen from the preputial area for bacterial and viral culture and 30 underwent biopsy of the affected skin. Follow-up was between three and six months. SETTING--Outpatient genitourinary medicine clinic, St Mary's Hospital, London, UK. RESULTS--In 31 (72%) of the patients a diagnosis of irritant dermatitis was made. In comparison with the remaining patients, they had a greater lifetime incidence of atopic illness and more frequent daily genital washing with soap. For 28 (90%) of these patients, use of emollient creams and restriction of soap washing alone controlled symptoms satisfactorily. For the remaining 12 patients, a variety of diagnoses were made. Biopsy proved a well tolerated and diagnostic investigation, but the isolation of microbial pathogens from preputial swabs was irrelevant to management. CONCLUSION--A history of atopic illness and of the practice of penile washing are important aspects in the evaluation of patients with recurrent balanitis. Biopsy is an important investigation in the condition when it does not seem to be caused by irritant dermatitis.
Birley, H D; Walker, M M; Luzzi, G A; Bell, R; Taylor-Robinson, D; Byrne, M; Renton, A M
Clinical features of diabetes mellitus cases complicated by Burkholderia pseudomallei septicemia.
The aim of this study was to analyze the clinical characteristics of diabetes mellitus patients with Burkholderia pseudomallei septicemia and evaluate strategies of diagnosis and treatment. The clinical characteristics, diagnosis, treatment, and prognosis of 39 diabetes mellitus patients with B. pseudomallei septicemia were retrospectively analyzed. Farmers, fishermen and workers were found to be high-risk groups. The clinical manifestations of patients were diverse without specific features, but mainly presented manifestations of acute fulminant septicemia, diabetic ketoacidosis, and abscesses in tissues or/and organs. Patients showed high mortality and misdiagnosis rates and were prone to relapses and long treatment duration as there are currently few effective and sensitive antibiotics for the disease. Consequently, the cost of treatment for the disease was high. Early diagnosis, a prolonged course of heavy doses of sensitive intravenous antibiotics, drainage of abscesses, intensive insulin therapy, and supportive treatment are the keys for successful management of the disease. Regular follow-ups combined with long-term blood glucose control can help reduce the disease recurrence. PMID:24782168
Quan, H B; Li, T Y; Gao, Y Y; Chen, D X
Aelurostrongylus abstrusus in a feline colony from central Italy: clinical features, diagnostic procedures and molecular characterization.
Clinical features and conventional and molecular diagnostic procedures have been investigated and evaluated for the infection caused by the lungworm Aelurostrongylus abstrusus (Nematoda, Strongylida). Individual fecal samples from all cats living in a colony with suspected lungworm infection underwent coprological flotation with sugar and zinc sulfate solution and the Baermann migration method. Also, pharyngeal swabs collected for each animal were subjected to a diagnostic nested PCR assay specific for a region internal to the ribosomal Internal Transcribed Spacer 2 of A. abstrusus. Eighteen animals were positive at the Baermann method, while 12 and ten out of them were negative when feces were subjected to the flotation with sugar and zinc sulfate solution, respectively. The nested PCR assay yielded positive results when using the pharyngeal swabs from the 18 coprologically positive cats and from six more cats which were coprologically negative, thus indicating an overall infection rate of 24.4%. Twenty-two out of 24 infected cats showed clinical respiratory symptoms and the most common were general respiratory distress, cough, wheezing, sneezing, and nasal discharge. These results indicate that cat aelurostrongylosis is of clinical importance and, thus, needs to be included in differential diagnosis of feline respiratory diseases. The importance of the disease is discussed together with pros and cons of different conventional and innovative diagnostic approaches. PMID:18651179
Traversa, Donato; Di Cesare, Angela; Milillo, Piermarino; Iorio, Raffaella; Otranto, Domenico
Clinical and neurophysiological features of active convulsive epilepsy in rural Kenya: a population based study
Purpose Epilepsy is common in sub-Saharan Africa but is poorly characterized. Most studies are hospital-based, and may not reflect the situation in rural areas with limited access to medical care. We examined people with active convulsive epilepsy (ACE), to determine if the clinical features could help elucidate the causes. Methods We conducted a detailed descriptive analysis of 445 people with ACE identified through a community-based survey of 151,408 people in rural Kenya, including the examination of electroencephalograms. Results Approximately half of the 445 people with ACE were children or adolescents. Seizures began in childhood in 78% of those diagnosed. An episode of status epilepticus was recalled by 36% cases, with an episode of status epilepticus precipitated by fever in 26%. Overall 169 had an abnormal electroencephalogram, 29% had focal features, 34% had epileptiform activity. In the 146 individuals who reported generalised tonic-clonic seizures only, 22% had focal features on their electroencephalogram. Overall 71% of patients with ACE had evidence of focal abnormality, documented by partial onset seizures, focal neurological deficits or focal abnormalities on the electroencephalogram. Increased seizure frequency was strongly associa