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Aminaphtone in the control of Schamberg's disease.
de Godoy, José Maria Pereira; Batigália, Fernando
The aim of this case report is to describe control of Schamberg's disease using aminaphtone. We report on the case of a 28-year-old patient who presented with multiple purpuric lesions of the lower extremities which had appeared spontaneously. A biopsy of the skin was performed that showed a perivascular T-cell lymphocytic infiltrate centered on the small superficial blood vessels of the skin and so a diagnosis of Schamberg's disease was reached. The patient was prescribed corticoids and the lesions disappeared however on suspension of the medication the lesions re-emerged within three to seven days. This treatment was unsuccessfully continued for more than one year. Thus another therapeutic option was attempted: 75 mg of aminaphtone was prescribed twice daily for one month and the purpuric lesions disappeared within about one week. One year after suspending the medication no relapse of the purpura was observed. PMID:19515261
Aminaphtone in the control of Schamberg's disease
de Godoy, José Maria Pereira; Batigália, Fernando
The aim of this case report is to describe control of Schamberg's disease using aminaphtone. We report on the case of a 28-year-old patient who presented with multiple purpuric lesions of the lower extremities which had appeared spontaneously. A biopsy of the skin was performed that showed a perivascular T-cell lymphocytic infiltrate centered on the small superficial blood vessels of the skin and so a diagnosis of Schamberg's disease was reached. The patient was prescribed corticoids and the lesions disappeared however on suspension of the medication the lesions re-emerged within three to seven days. This treatment was unsuccessfully continued for more than one year. Thus another therapeutic option was attempted: 75 mg of aminaphtone was prescribed twice daily for one month and the purpuric lesions disappeared within about one week. One year after suspending the medication no relapse of the purpura was observed. PMID:19515261
Just a sore throat? Uncommon causes of significant respiratory disease
Wahab, Dalia; Bichard, Julia; Shah, Anand; Mann, Bhupinder
We present two uncommon underlying causes of a sore throat which, if missed or delayed in diagnosis, can lead to disastrous consequences. Our first case is of Lemierre's syndrome diagnosed in a 21-year-old man presenting with a 5-day history of sore throat, fever, right-sided pleuritic chest pain and bilateral pulmonary nodules on CT imaging. Fusobacterium necrophorum cultured from peripheral blood and an occluded left internal jugular vein on ultrasound lead to an eventual diagnosis. Our second case presents a 29-year-old woman with a 5-day history of sore throat, fever and right-sided pleuritic chest pain. A left-sided quinsy was diagnosed and aspirated and the patient was discharged home. She represented shortly with worsening pleuritic pain and was found to have a right-sided pleural effusion with descending mediastinitis originating from the tonsillar abscess. Delayed diagnosis resulted in open thoracotomy, decortication and prolonged intravenous antibiotics. PMID:23632177
Unicentric Castleman's disease: an uncommon cause of posterior mediastinal mass
Alavi, Aliasghar; Asadi Gharabaghi, Mehrnaz
Castleman's disease is a rare lymphoproliferative disease that may be unicentric or multicentric in presentation. It may develop anywhere along with the lymphatic system such as the abdomen, neck and thoracic cavity. However, mediastinum is the most common location for unicentric disease. Here, we discuss a unicentric Castleman's disease in a 28-year-old woman who presented with cough, mild dysphagia and a large posterior mediastinal mass. PMID:23761562
Recovery of uncommon bacteria from blood: association with neoplastic disease.
Beebe, J L; Koneman, E W
Table 6 is a summary of the organisms discussed with a listing of the environmental source, the endogenous source, the predisposing factors including neoplasms, and the postulated mechanisms by which the organism can gain access to the circulation. The evidence considered indicates that the entrance of one of these microorganisms into the bloodstream of a human being depends on the presence of multiplicity of predisposing factors. In the majority of cases of bacteremia due to one of these unusual organisms, two or more predisposing factors are present. Certain predisposing factors, such as cancer chemotherapy or intravenous catheterization, often provide a barrier break, while others, such as liver disease, may render the host immune system less capable of clearing organisms from the circulation. For organisms such as Campy-lobacter, Listeria, and Salmonella spp., attributes that allow the invasion of a healthy host are present and seem to be enhanced by the simultaneous presence of a predisposing condition, such as liver disease, in the host. Although somewhat fragmentary, a number of individual case reports describe bacteremia due to one of these organisms occurring weeks to years after surgery and after other therapeutic measures had effected a supposed cure of a cancer. It may be speculated that cancer patients, even after a cure, are still susceptible to bloodstream invasion by one of the aforementioned organisms by virtue of the presence of one or more predisposing metabolic, physiologic, or immunologic factors, even though these factors may be cryptic. The predominance of hematologic malignancies among cases of bacteremia due to these unusual organisms is also apparent. Although, as pointed out by Keusch (169), the reduction in the performance of immune function in hematologic malignancies compared with solid tumors is likely to be responsible, other associations of certain organisms with specific neoplasms warrant further examination. The frequency of bloodstream infections of Salmonella typhimurium and Capno-cytophaga canimorsus in Hodgkin's disease patients seems likely due to a particular mechanism which infection by these species is favored. The specific nature of these mechanisms remains to be determined. The recovery of any unusual bacterium from blood should warrant a careful consideration of the possibility of underlying disease, especially cancer. Microbiologists should advise clinicians of the unusual nature of the identified organism and provide the counsel that certain neoplastic processes, often accompanied by neutropenia, render the human host susceptible to invasion by almost any bacterium. The recovery of such organisms as C. septicum or S. bovis should prompt the clinician to aggressively seek to identify an occult neoplasm if one has not yet been diagnosed. PMID:7553569
A review of uncommon cytopathologic diagnoses of pleural effusions from a chest diseases center in Turkey
Cakir, Ebru; Demirag, Funda; Aydin, Mehtap; Erdogan, Yurdanur
Background: After pneumonia, cancer involving the pleura is the leading cause of exudative pleural effusion. Cytologic examination of pleural effusions is an important initial step in management of malignant effusions. The aim of this study is to evaluate the spectrum of uncommon malignant pleural effusions in a chest disease center in Turkey. Materials and Methods: A retrospective study of samples of pleural effusions submitted to Ataturk Chest Diseases and Chest Surgery Education and Research Hospital Department of Pathology between March 2005 and November 2008 was performed. Results: Out of a total of 4684 samples reviewed 364 (7.8%) were positive for cancer cells. Of the malignant pleural effusions 295 (81%) were classified as adenocarcinoma or carcinoma not otherwise specified (NOS). Pleural effusion specimens revealing a diagnosis other than adenocarcinoma/carcinoma NOS were: 32 (8.8%) malignant mesotheliomas, 14 (3.8%) small cell carcinomas, 13 (3.5%) hematolymphoid malignancies and 10 (2.7%) squamous cell carcinoma. Hematolymphoid malignancies included non- Hodgkin lymphoma (diffuse B large cell lymphoma, mantle cell lymphoma), multiple myeloma, chronic myeloid leukemia, and acute myeloid leukemia. Conclusions: Despite that adenocarcinoma is the most common cause of malignant pleural effusions, there is a significant number of hematological and non-hematological uncommon causes of such effusions. Cytopathologists and clinicians must keep in mind these uncommon entities in routine practice for an accurate diagnosis. PMID:21799700
Hemolytic anemia as first presentation of Wilson's disease with uncommon ATP7B mutation.
Ye, Xing-Nong; Mao, Li-Ping; Lou, Yin-Jun; Tong, Hong-Yan
Wilson's disease (WD) is a rare inherited disorder of copper metabolism and the main manifestations are liver and brain disorders. Hemolytic anemia is an unusual complication of WD. We describe a 15-year-old girl who developed hemolytic anemia as the first manifestation of Wilson's disease. An Arg952Lys mutation was found in exon 12 of the ATP7B gene, which is uncommon among Chinese Han individuals. From this case and reviews, we can achieve a better understanding of WD. Besides, we may conclude that the probable diagnosis of WD should be considered in young patients with unexplained hemolytic anemia, especially in patients with hepatic and/or neurologic disorder. PMID:26064408
Hemolytic anemia as first presentation of Wilson's disease with uncommon ATP7B mutation
Ye, Xing-Nong; Mao, Li-Ping; Lou, Yin-Jun; Tong, Hong-Yan
Wilson's disease (WD) is a rare inherited disorder of copper metabolism and the main manifestations are liver and brain disorders. Hemolytic anemia is an unusual complication of WD. We describe a 15-year-old girl who developed hemolytic anemia as the first manifestation of Wilson's disease. An Arg952Lys mutation was found in exon 12 of the ATP7B gene, which is uncommon among Chinese Han individuals. From this case and reviews, we can achieve a better understanding of WD. Besides, we may conclude that the probable diagnosis of WD should be considered in young patients with unexplained hemolytic anemia, especially in patients with hepatic and/or neurologic disorder.
A Case of Hemophagocytic Syndrome due to Tuberculosis: Uncommon Manifestation of a Common Disease
Singha, Arijit; Mukherjee, Adreesh; Dasgupta, Riddhi; Das, Tapas
Hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis (HLH), is the manifestation of immune dysregulation. It is associated with ineffective but exaggerated immune response and infiltration of active lymphocytes and histiocytes in various organs. This devastating clinical condition has myriad of clinical and biochemical manifestations such as fever, splenomegaly, pancytopenia, hypertrygliceridemia, and hyperferritinemia. It can be either primary or secondary. Primary HLH usually presents in childhood. Secondary HLH occurs due to infection mostly viruses but other aetiologies are also important as early detection and treatment may improve survival. Hemophagocytosis due to tuberculosis is uncommon. Only handful of cases have been reported mostly in immunocompromised patients. We report a case of hemophagocytic syndrome associated with disseminated tuberculosis in an immunocompetent women highlighting early diagnosis and treatment is a demanding need in this devastating disease. PMID:25404945
Nodular fasciitis: an uncommon disease with common medical management challenges at a remote Naval Hospital.
Spinelli, Nicholas; Khorassani, Nima
Nodular fasciitis is a rare benign soft tissue lesion that is often confused with malignant sarcoma, which can make management of this pathology challenging. We present here a case of head and neck nodular fasciitis that was managed at a remote U.S. Naval Hospital with limited diagnostic and therapeutic resources. The aim of this article is to bring to light this uncommon pathology so that it can be given its due consideration in the differential diagnosis from both a clinical and pathologic perspective. However, the more important purpose of this article is to highlight the complex decision-making process that sometimes occurs when evaluating patients within a medical infrastructure that is significantly less than that of a typical military treatment facility or U.S. hospital. Young surgeons and other providers may find this discussion useful before deploying, whether it be to a remote land-based facility or to an aircraft carrier. PMID:24005559
NSDL National Science Digital Library
Robinson, Peter.
Hosted by Peter M. Robinson of the Hoover Institution, Uncommon Knowledge has been taking a critical look at public policy issues since 1996. With support from the John M. Olin Foundation, Uncommon Knowledge is distributed by American Public Television and can also be heard on NPR. In keeping with the traditions of the Hoover Institution, the programs feature lively debate on any number of topics, ranging from gun control to international foreign diplomacy. Visitors to the website can browse through a list of recent shows, or look through their archives which date from 1997. Visitors may also wish to view the entire television program on their computer, listen to the audio presentation, or read a transcript.
Bronchiectasis: Mechanisms and Imaging Clues of Associated Common and Uncommon Diseases.
Milliron, Bethany; Henry, Travis S; Veeraraghavan, Srihari; Little, Brent P
Bronchiectasis is permanent irreversible dilatation of the airways and occurs in a variety of pathologic processes. Recurrent infection and inflammation and the resulting chemical and cellular cascade lead to permanent architectural changes in the airways. Bronchiectasis can confer substantial potential morbidity, usually secondary to recurrent infection. In severe cases of bronchiectasis, massive hemoptysis can lead to death. Thin-section computed tomography is the most sensitive imaging modality for the detection of bronchiectasis; findings include bronchial diameter exceeding that of the adjacent pulmonary artery and lack of normal tapering of terminal bronchioles as they course toward the lung periphery. The authors will review various causes of bronchiectasis, including common causes, such as recurrent infection or aspiration, and uncommon causes, such as congenital immunodeficiencies and disorders of cartilage development. The authors will also present an approach emphasizing the distribution (apical versus basal and central versus peripheral) and concomitant findings, such as nodules, cavities, and/or lymphadenopathy, that can assist in narrowing the differential diagnosis. Although an adequate understanding of these underlying causes in conjunction with their specific imaging appearances will allow radiologists to more confidently determine the process causing this common radiologic finding, clinical history and patient demographic characteristics play an integral role in determining a pertinent and concise differential diagnosis. Online supplemental material is available for this article. (©)RSNA, 2015. PMID:26024063
Systemic Lupus Erythematosus Pancreatitis: An Uncommon Presentation of a Common Disease
Rodriguez, Eduardo A.; Sussman, Daniel A.; Rodriguez, Vanessa R.
Patient: Female, 21 Final Diagnosis: Systemic lupus erythematosus pancreatitis Symptoms: Abdominal pain Medication: — Clinical Procedure: — Specialty: Gastroenterology and Hepatology Objective: Challenging differential diagnosis Background: Acute pancreatitis is uncommon in systemic lupus erythematosus (SLE). When recognized early and properly treated with IV steroids and hydration, the course may be benign, as exemplified in the following report. Case Report: A 21-year-old woman with history of SLE and stage IV lupus nephritis, was admitted to the Sergio Bernales Hospital ICU (Lima, Peru), complaining of worsening epigastric pain radiating to the back, and nausea and vomiting for 1 week. She denied prior cholelithiasis, alcohol use, or recent medication changes. On examination, she was tachycardic and normotensive, with a slightly distended abdomen and epigastric tenderness on deep palpation, without signs of peritoneal irritation. Laboratory results demonstrated leukocytosis without left shift, creatinine of 2.26 mg/dL, amylase of 750 U/L, and lipase of 1038 U/L. Liver chemistries, calcium, lactic acid, triglycerides, and IgG4 were normal and alcohol level was undetectable. Ultrasound did not show cholelithiasis, biliary sludge, or common bile duct dilation. CT of the abdomen showed pancreas head (parenchyma) stranding with uniform enhancement consistent with interstitial pancreatitis. Despite receiving IV fluids, opiates, anti-emetics, and nothing by mouth, her clinical condition deteriorated, prompting the use of IV methylprednisolone. After completing 1 week of IV steroids, she was transferred to the medical floor clinically improved. The patient was discharged with an oral steroid taper and complete resolution of symptoms. Conclusions: After ruling out common causes, such as hepatobiliary pathology or toxin-related insults like alcohol, hypercalcemia, hypertriglyceridemia or medications, steroids may be used in SLE pancreatitis because they might improve the overall prognosis. PMID:25399483
Moyamoya Disease – A Vasculopahty and an Uncommon Cause of Recurrent Cerebrovascular Accidents
Hamirani, Yasmin S.; Valikhani, Mohammad; Sweney, Allison; Khan, Hafsa; Pathan, Mohammad
Moyamoya disease is a very rare chronic cerebrovascular disease of unknown etiology characterized by recurrent ischemic or hemorrhagic strokes. Initially diagnosed in Japan and named after finding puff of smoke like collateral blood vessels around the occluded blood vessels of circle of Willis. With increase awareness this disease is now diagnosed more often. Medical and surgical treatment have been used to treat the disease, with surgical treatment been mostly experimental. Special attention should be given to the surgical treatment which has shown to have an edge over the medical treatment in some clinical trials especially in young patients with recurrent strokes to prevent progressive cognitive decline and to improve their quality of life. In our patient, who is a young man, the diagnosis was picked up late and when surgical evaluation was performed, it was considered to be fruitless with findings of nonviable brain tissue on MRI imaging. PMID:22470591
Crohn's disease and Takayasu's arteritis: An uncommon association
Taddio, Andrea; Maschio, Massimo; Martelossi, Stefano; Barbi, Egidio; Ventura, Alessandro
Takayasu's arteritis (TA) and Crohn's disease (CD) are two rare autoimmune disorders; however some reports describe the presence of both diseases in the same patient. This finding has suggested the possibility that both diseases could share some common etiologic origin. We describe a case of a 13-year-old male affected by CD characterized by fever, diarrhea, weight loss, abdominal pain and elevation of inflammatory markers. Clinical and histological features from colonic specimens were consistent with CD. Treatment with steroids and azathioprine was started, however disease flared every time steroids were tapered. One year later, while still on treatment, he came back to our attention for dyspnea at rest and at night, tiredness and weakness. At physical examination a diastolic heart murmur was found as well as a left carotid artery bruit. A transthoracic echocardiography showed mild aortic valve insufficiency, left ventricular hypertrophy and a dilated ascending aorta with same findings at the aortic arch. A computed tomography scan showed abdominal aorta thickening, dilated thoracic aorta and the presence of a thoracic aortic aneurysm. TA associated with CD was diagnosed and medical treatment with cyclophosphamide, steroids and aminosalicylic acid was started, with good clinical response at 6 mo follow-up. We discuss the presence of possible common causes for the two diseases and the importance of differential diagnosis in those patients characterized for intractable disease. PMID:24124342
How did uncommon disorders become 'rare diseases'? History of a boundary object.
Huyard, Caroline
The category of 'rare diseases' has been in growing use in the fields of public health and patient advocacy for the past 15 years in Europe. In this socio-historical inquiry, I argue that this category, which appeared initially as a by-product of the orphan drug issue in the United States of America, is a boundary object. As such, it has different specific local uses: a meaningless category for physicians, it relates to the patients' experience of illness, whereas the pharmaceutical industry first considered it as being synonymous with small markets and then with innovation. Public bodies contributed to framing a common and blurred use, based on a statistical definition whose purpose was to foster co-operation between the four groups involved in the issue. In the definition process of the category of rare diseases, the key actors were the patients and public bodies, not medical professionals or the pharmaceutical industry. PMID:19397760
IgA-mediated anti-glomerular basement membrane disease: an uncommon mechanism of Goodpasture's syndrome
Moulis, Guillaume; Huart, Antoine; Guitard, Joëlle; Fortenfant, Françoise; Chauveau, Dominique
Goodpasture's (GP) disease is usually mediated by IgG autoantibodies. We describe a case of IgA-mediated GP, in a patient presenting with isolated rapidly progressive glomerulonephritis. The diagnosis was established on kidney biopsy, since routine enzyme-linked immunosorbent assay (ELISA) targeted at IgG circulating autoantibodies failed to detect the nephritogenic antibodies. Immunofluorescence microscopy showed intense linear deposition of IgA along the glomerular capillary walls. An elevated titre (1:80) of circulating IgA anti-glomerular basement membrane (GBM) antibodies was retrospectively demonstrated by indirect fluorescence. Despite immunosuppressive regimen, the disease progressed to end-stage renal failure (ESRF). Transplantation was not associated with recurrence in the kidney graft. We reviewed the 11 previously reported cases of IgA-mediated GP.
IgA-mediated anti-glomerular basement membrane disease: an uncommon mechanism of Goodpasture's syndrome.
Moulis, Guillaume; Huart, Antoine; Guitard, Joëlle; Fortenfant, Françoise; Chauveau, Dominique
Goodpasture's (GP) disease is usually mediated by IgG autoantibodies. We describe a case of IgA-mediated GP, in a patient presenting with isolated rapidly progressive glomerulonephritis. The diagnosis was established on kidney biopsy, since routine enzyme-linked immunosorbent assay (ELISA) targeted at IgG circulating autoantibodies failed to detect the nephritogenic antibodies. Immunofluorescence microscopy showed intense linear deposition of IgA along the glomerular capillary walls. An elevated titre (1:80) of circulating IgA anti-glomerular basement membrane (GBM) antibodies was retrospectively demonstrated by indirect fluorescence. Despite immunosuppressive regimen, the disease progressed to end-stage renal failure (ESRF). Transplantation was not associated with recurrence in the kidney graft. We reviewed the 11 previously reported cases of IgA-mediated GP. PMID:26069798
Toxoplasmosis presented as a submental mass: a common disease, uncommon presentation
Li, Bo; Zou, Jian; Wang, Wei-Ya; Liu, Shi-Xi
Submental mass secondary to toxoplasmosis is not common in clinical work. A diagnosis of toxoplasmosis is rarely considered by physicians. Here we describe a 50-year-old woman presented with a progressive, painful, submental and left neck swelling for 1 month. After having obtained an insufficient evidence from the fine-needle biopsy, the patient finally received an excisional biopsy which highly indicated the possibility of lymphadenopathy consistent with toxoplasmosis. Diagnosis of toxoplasmosis was finally established by a combination of the pathological criteria, together with the positive serological finding. According to review the clinical presentations, pathological characteristics, diagnostic standard and treatment of this disease, the article aims to remind otolaryngologists who are evaluating a neck mass should be aware of the infectious cause of lymphadenopathy and the possibility of toxoplasmosis. PMID:26045858
Orbital Pseudotumor: Uncommon Initial Presentation of IgG4-Related Disease
Carbone, Teresa; Azędo Montes, Ricardo; Andrade, Beatriz; Lanzieri, Pedro; Mocarzel, Luis
IgG4-related disease (IgG4-RD) encompasses a group of fibroinflammatory conditions recognized in recent times. The main clinical features include variable degrees of tissue fibrosis, tumorlike expansions, perivascular lymphocytic infiltration rich in IgG4-positive plasma cells, and elevated serum IgG4. A case has been reported of an elderly patient with an unexplained unilateral exophthalmia; biopsy was performed and revealed lymphocytic infiltration, suggesting IgG4-RD. High serum levels of IgG4, in association with a good response to steroid therapy and to the exclusion of other diagnoses, confirmed the hypothesis of orbital pseudotumor by IgG4-RD. PMID:25838962
Acute beak and feather disease in juvenile African Grey parrots--an uncommon presentation of a common disease.
Doneley, R J T
Psittacine Beak and Feather Disease is commonly diagnosed all over the world as a viral disease of psittacine birds that primarily results in abnormalities of the feathers and beak. The clinical presentation of this disease varies between species and age groups, but in the majority of cases the course of the disease is chronic. This case report documents an acute form of the disease in African Grey parrots (Psittacus erithacus erithacus) that resulted in death without lesions in the feathers and beak. PMID:15080443
Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease
Joachim Roesler; Stefan Heyden; Martin Burdelski; Hansjorg Schäfer; Hans-Walter Kreth; Romy Lehmann; Diana Paul; Jenny Marzahn; Manfred Gahr; Angela Rösen-Wolff
Chronic granulomatous disease is an inherited disease characterized by the inability of phagocytes to generate normal amounts of superoxide, leaving patients susceptible to opportunistic, life-threatening infections. In the majority of cases, cytochrome b558 is absent in the X-chromosomal form of CGD. However, the neutrophils from six of nine X-linked CGD patients, reported here, expressed normal or decreased amounts of this
Diurnal and twenty-four hour patterning of human diseases: acute and chronic common and uncommon medical conditions.
Smolensky, Michael H; Portaluppi, Francesco; Manfredini, Roberto; Hermida, Ramon C; Tiseo, Ruana; Sackett-Lundeen, Linda L; Haus, Erhard L
The symptom intensity and mortality of human diseases, conditions, and syndromes exhibit diurnal or 24 h patterning, e.g., skin: atopic dermatitis, urticaria, psoriasis, and palmar hyperhidrosis; gastrointestinal: esophageal reflux, peptic ulcer (including perforation and hemorrhage), cyclic vomiting syndrome, biliary colic, hepatic variceal hemorrhage, and proctalgia fugax; infection: susceptibility, fever, and mortality; neural: frontal, parietal, temporal, and occipital lobe seizures, Parkinson's and Alzheimer's disease, hereditary progressive dystonia, and pain (cancer, post-surgical, diabetic neuropathic and foot ulcer, tooth caries, burning mouth and temporomandibular syndromes, fibromyalgia, sciatica, intervertebral vacuum phenomenon, multiple sclerosis muscle spasm, and migraine, tension, cluster, hypnic, and paroxysmal hemicranial headache); renal: colic and nocturnal enuresis and polyuria; ocular: bulbar conjunctival redness, keratoconjunctivitis sicca, intraocular pressure and anterior ischemic optic neuropathy, and recurrent corneal erosion syndrome; psychiatric/behavioral: major and seasonal affective depressive disorders, bipolar disorder, parasuicide and suicide, dementia-associated agitation, and addictive alcohol, tobacco, and heroin cravings and withdrawal phenomena; plus autoimmune and musculoskeletal: rheumatoid arthritis, osteoarthritis, axial spondylarthritis, gout, Sjögren's syndrome, and systemic lupus erythematosus. Knowledge of these and other 24 h patterns of human pathophysiology informs research of their underlying circadian and other endogenous mechanisms, external temporal triggers, and more effective patient care entailing clinical chronopreventive and chronotherapeutic strategies. PMID:25129839
Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.
Paquay, Stéphanie; Benoit, Valérie; Wetzburger, Catherine; Cordonnier, Monique; Meire, Françoise; Charon, Anne; Roland, Dominique; Van Coster, Rudy; Nassogne, Marie-Cécile; Maystadt, Isabelle
Leber hereditary optic neuropathy is a well-known mitochondrial disorder that leads to bilateral subacute visual failure. Although visual impairment is often the sole clinical feature, additional and severe neurologic abnormalities also have been documented for this disease. We report on a 13-year-old boy who has presented with severe visual failure since early childhood in a context of prematurity. In the first years of his life, clinical features included delayed psychomotor development and ataxia. The clinical presentation, which was initially attributed to prematurity, worsened thereafter, and the child developed acute neurologic degradation with the typical radiological findings of Leigh syndrome. The mitochondrial DNA point mutation 11778G>A was identified in the ND4 gene. The probable influence of environmental background on clinical expression of Leber optic neuropathy, particularly those of prematurity and oxygen therapy, is discussed in our manuscript. PMID:23864591
Chronic granulomatous disease of childhood: an unusual cause of recurrent uncommon infections in a 61-year-old man.
Isman-Nelkenbaum, G; Wolach, B; Gavrieli, R; Roos, D; Sprecher, E; Bash, E; Gat, A; Sprecher, H; Ben-Ami, R; Zeeli, T
Chronic granulomatous disease (CGD) is a rare congenital immunodeficiency that affects 1 : 250,000 of the population, which is characterized by recurrent bacterial and fungal infections and by granuloma formation. We investigated a 61-year-old man presented with a 20-year history of a relapsing skin rash appearing as mildly pruritic and erythematous plaques affecting various body regions. Cutaneous biopsies were taken and sent for histology and tissue culture. Leucocyte function was assessed by determining the generation of reactive oxygen species. Bactericidal activity was assessed in the presence of autologous and homologous sera. Western blotting was performed for protein analysis of the reduced nicotinamide adenine dinucleotide phosphate oxidase system, and mutation screening was carried out using PCR amplification and sequence analysis. Examination of biopsies obtained from lesional skin indicated a suppurative granulomatous process. Tissue cultures grew Aspergillus nidulans and Aspergillus fumigatus (confirmed by PCR). A. nidulans has often been associated with CGD, and the leucocyte function tests supported this diagnosis. Direct DNA sequencing led to the identification of a hemizygous missense novel mutation in CYBB (c.907C>T), which predicts a p.His303Tyr amino-acid substitution in gp91-phox, thus confirming the diagnosis of CGD. In conclusion, we report a case of a rare inherited immunodeficiency, CGD, in a 61-year-old man, and describe the novel hemizygous missense mutation underlying the condition. Mild forms of usually fatal immunodeficiencies should be considered when assessing the occurrence of unusual infectious diseases in apparently healthy people. PMID:21623884
An uncommon infection in an uncommon host.
Singh, Siddharth; Bundrick, John B
We present the case of an international traveller who was eventually diagnosed with amoebiasis and autosomal dominant polycystic kidney disease (ADPKD) after she presented with recurring fevers. The patient was also diagnosed with non-amoebic bacterial hepatitis. Positron emission tomography (PET) can play an important role in locating the source of infection in patients with ADPKD when hepatic or renal infection is suspected. It can also be used to document clinical resolution of infection in difficult cases. Hepatic parenchymal infections in ADPKD patients may warrant a prolonged course of rotating antibiotics. PMID:21265585
Uncommonly Taught Languages: Another Perspective.
ERIC Educational Resources Information Center
Thompson, Richard T.
This article, a reply to William Gage's "Uncommonly Taught Languages" (ED 042 163), takes issue with Gage's assertion that "there is no generally recognized source of guidance for determining needs and priorities for the allocation of the scarce resources in the uncommonly taught languages, but...that a number of useful tools of access for many…
Tips to diagnose uncommon nail disorders.
Schneider, Samantha L; Tosti, Antonella
This article reviews 6 nail disorders that, although easy to diagnose, are misdiagnosed frequently by dermatologists and general practitioners. Diagnostic clues are emphasized to familiarize readers with features that indicate the correct diagnosis. We focus on two common tumors (onychomatricoma and onychopapilloma), two rare genetic conditions that can be diagnosed owing to nail changes (Darier disease and nail patella syndrome), and two uncommon acquired disorders (the yellow nail syndrome and lichen striatus). PMID:25828712
Uncommon and/or bizarre features of dementia.
Cipriani, Gabriele; Lucetti, Claudio; Danti, Sabrina; Ulivi, Martina; Nuti, Angelo
This study aimed at describing uncommon or bizarre symptoms observed in patients suffering from dementia. Medline and Google scholar searches were conducted for relevant articles, chapters, and books published since 1967. Search terms used included uncommon presentation, behavioural and psychological symptoms, dementia, Alzheimer's disease, and fronto-temporal dementia. Publications found through this indexed search were reviewed for further relevant references. The uncommon symptoms are described as case-reports and there are no systematic investigations. Bizarre behaviours arising late in life should be thoroughly investigated as symptoms of dementia. PMID:24854147
Case studies of uncommon headaches.
Evans, Randolph W
The following interesting and uncommon headache disorders are presented through case studies: exploding head syndrome, hypnic headache, neck-tongue syndrome, "Alice in Wonderland" syndrome, nummular headache, red ear syndrome, burning mouth syndrome, spontaneous intracranial hypotension syndrome, and cardiac cephalalgia. PMID:16684636
Uncommon Tiredness among College Undergraduates.
ERIC Educational Resources Information Center
Montgomery, George K.
Examined uncommon tiredness and its social and performance consequences among college students (N=209). Statistical analyses showed relationships between tiredness and depression, cognitive anxiety, and measures of emotional instability and introversion. Tired students described themselves as more time-pressured by problems and more competitive…
Ameloblastic fibroma: an uncommon entity
Vij, Ruchieka; Vij, Hitesh
Ameloblastic fibroma is an uncommon mixed odontogenic tumour, which is often confused with ameloblastoma. It exhibits both epithelial and mesenchymal components with absence of any calcified dental structure. This paper presents two cases of this rare entity with detailed review of literature. PMID:23843410
Hallucinations, Delusions Uncommon in General Population
... 152765.html Hallucinations, Delusions Uncommon in General Population: Study Women, people in wealthier nations more likely to experience these psychotic experiences ... and delusions are uncommon in the general population, a new study finds. Researchers analyzed data from more than 31, ...
Metronidazole encephalopathy: Uncommon reaction to a common drug
Senthilkumaran, Subramanian; Shah, Sweni; Balamurugan, Namasivayam; Thirumalaikolundusubramanian, Ponniah
Encephalopathy associated with metronidazole administration is an uncommon but potentially reversible disease and depends on the cumulative metronidazole dose, and most patients with this condition recover rapidly after discontinuation of therapy. We present a case as well as a review of the literature regarding this rare but serious adverse event.
Uncommon surgical emergencies in neonatology.
Angotti, R; Bulotta, A L; Ferrara, F; Molinaro, F; Cerchia, E; Meucci, D; Messina, M
Objective. Over the past decade, multiple factors have changed the pattern of neonatal surgical emergencies. An increase in prenatal screenings and the development of neonatal tertiary care centres have changed the clinical approach to these kids. Materials and methods. Between 1995 to 2011 were retrospectively reviewed 34 patients with diagnosis of uncommon rare neonatal surgical emergencies at our institute. We analyzed: sex, gestational age, weight at birth, primary pathology, prenatal diagnosis, associated anomalies, age and weight at surgery, clinical presentation, start of oral feeding and hospitalization. The follow-up was performed at 6,12, 24 and 36 months. Results. There were 21 male and 13 female. The gestational age ranged between 28 and 36 weeks. The weight at birth ranged between 700 and 1400 grams. Oral feeding was started between 4th and 10th postoperative day. The average hospitalization was about 70.47 days. To date, all patients have finished the followup. They are healthy. Conclusion. The outcome of the patients with uncommon surgical emergencies is different based on the etiology. Overall survival is generally good but is influenced by the associated anomalies. PMID:25669890
Uncommon presentations of tinea versicolor
Varada, Sowmya; Dabade, Tushar; Loo, Daniel S.
Tinea versicolor (TV) is a common cutaneous fungal infection characterized by superficial scaling and a mild disturbance of skin pigmentation. It typically affects the chest, upper back, and shoulders. However, involvement of more unusual regions of the body such as the face and scalp, arms and legs, intertriginous sites, genitalia, areolae, and palms and soles has been reported. This report details two such cases observed at our institution: a 32-year-old woman with involvement of the popliteal fossa and a 16-year-old boy with involvement of the groin. The clinician must be aware of these variations in location and perform the appropriate diagnostic workup when lesions have the characteristic morphology of TV despite an unusual location. The etiology, pathophysiology, and epidemiology of TV are reviewed and current literature describing other instances of TV in uncommon locations is discussed. PMID:25126470
Uncommon Locations and Presentations of Hydatid Cyst
Sachar, S; Goyal, S; Goyal, S; Sangwan, S
Background: Hydatid disease (HD) is an ancient disease and even was known to Hippocrates. This disease involves all human parts and most common affected organs are liver and lungs. Incidence of unusual site is about 8-10%. The clinical picture depends upon the involved organs, its effects on adjacent structures, complications due to secondary infection, rupture, and anaphylaxis caused by hydatid cysts. Aim: The aim of this study was to find out incidence of unusual location of hydatid cyst in the human body. Materials and Methods: A retrospective study of HD was carried in a medical college between July 2007 and June 2012. A total 79 cases of HD were treated during this period. Information on clinical presentation and management were reviewed, and results presented as summary statistics. Results: Sixty one cases were of liver HD, and 11 were with hydatid lung disease. Fifty cases were with right lobe involvement, and rest 11 were with both lobe involvement. Out of 11 lung hydatid only one case was with bilateral lung involvement. Only eight cases of HD of uncommon locations and presentations were encountered during this period. First case presented with left hypochondriac mass as splenic HD, second with pelvic HD along with obstructive uropathy, third with non-functioning right kidney with bilateral psoas muscles HD, fourth with HD involving mesentery, fifth with pelvic pain due to right ovary HD, sixth with simultaneous involvement of the liver and right subdiaphragmatic region, seventh with HD of right inguinal region, and eighth with hydatid cyst of the left kidney. Even though, there was no mortality found in these patients, there was high morbidity. Conclusion: We conclude that Echinococcus granulosus can affect any organ in the body from head to toe, and a high suspicion of this disease is justified in endemic regions. Moreover, medical treatment should be given in the pre-operative period as well as in the post-operative period for 4-6 weeks. PMID:24971224
Uncommon Success: A Conversation with Brett Peiser
ERIC Educational Resources Information Center
Meyer, Peter
This article introduces a conversation with Brett Peiser, named chief executive officer of "Uncommon Schools" in July of 2012, along with the principal of North Star Academy Vailsburg Middle School, a charter school in Newark, New Jersey's West Ward. There is no doubt that "Uncommon Schools" has given thousands of…
Onychoprotothecosis: An uncommon presentation of protothecosis.
Gandham, N R; Vyawahare, C R; Chaudhaury, N; Shinde, R A
Onychomycosis is a fairly common condition seen in a dermatology clinic. Dermatophytes Trichophyton and Epidermophyton are the known filamentous fungi implicated. The yeast-like fungi such as Candida less commonly cause Onychomycosis. The genus Prototheca may on preliminary observation resemble yeast-like fungi but a detailed microscopy will reveal the absence of budding and presence of endospores. Onychoprotothecosis is an uncommon presentation of human protothecosis. Of the two Prototheca species (Prototheca zopfii and Prototheca wickerhamii) known to cause the disease, P. wickerhamii has been reported more commonly. We report a culture proven case of this condition caused by P. zopfii. The patient, a 55-year-old housewife presented with discolouration and breaking off of the right thumb and forefinger nails since a period of six months. Samples of nail scrapping sent to the Microbiology Laboratory were culture-positive for Prototheca. Speciation by the automated Vitek-2 system (bioMerieux) identified the isolate as P. zopfii, which was further confirmed at PGI, Chandigarh. PMID:26068353
Uncommon neurodegenerative causes of dementia.
Kurz, Alexander F
A group of neurodegenerative diseases is outlined that affect cortical and subcortical areas of the brain. These diseases give rise to atypical forms of dementia and, unlike Alzheimer's disease (AD), are often associated with neurological symptoms. Clinical symptoms reflect the localization of the degenerative process rather than the nature of the underlying histopathology. Degeneration of the frontal and anterior temporal lobe presents initially with behavioral alterations, but later in the course, impairment of cognition and activities of daily living develops. Posterior cortical atrophy affects the parietal and occipital association cortices and causes complex visual disturbances. In corticobasal degeneration (CBD) the focus of pathology includes the frontoparietal cortex and several subcortical nuclei, causing symmetrical rigidity, bradykinesia, myoclonus and dystonia. Progressive supranuclear palsy (PSP) involves the frontal, temporal and parietal cortex as well as parts of the brain stem. Clinical features include a hypokinetic rigid syndrome with nuchal dystonia and vertical gaze palsy. Huntington's disease is a prototypical autosomal dominant disorder that affects the extrapyramidal system and causes choreatic movements in combination with personality changes and cognitive deterioration. Amyotrophic lateral sclerosis (ALS) with dementia is a neurodegeneration of the frontotemporal cortex and of the anterior horn of the spinal cord. Behavioral change similar to frontotemporal dementia (FTD) is paralleled or followed by the classic features of motor neuron disease. PMID:16240482
Pseudomelanosis of the stomach and duodenum: an uncommon endoscopic finding
Thure Caire, M.; Kalan, Shivam; Brady, Patrick; Gill, Jeffrey
A woman (70-years) with a history of iron deficiency anemia and chronic kidney disease presented with two weeks of abdominal pain. Upper endoscopy demonstrated the gastric and duodenal mucosa was black and speckled consistent with diagnosis of pseudomelanosis. Biopsies showed pigment-laden macrophages in the lamina propria, which stained positive for iron and Masson-Fontana trichrome stain consistent with a "melanin-like" pigment. Although an uncommon endoscopic finding, this pigment has been associated with the use of certain medications, antihypertensives and iron supplements, and systemic illnesses, including hypertension, chronic kidney disease, gastric hemorrhage, and diabetes mellitus.
Uncommon hepatic tumors: iconographic essay - Part 1*
Pedrassa, Bruno Cheregati; da Rocha, Eduardo Lima; Kierszenbaum, Marcelo Longo; Bormann, Renata Lilian; Torres, Lucas Rios; D'Ippolito, Giuseppe
Most malignant liver tumors are represented by hepatocellular carcinoma and cholangiocarcinoma; however a variety of other uncommon hepatic lesions might also be found. Common lesions such as hemangioma, focal nodular hyperplasia and metastases are well known and have already been extensively documented in the literature. The diagnosis of typical hepatic lesions may be done with some reliability by means of several imaging methods; on the other hand, uncommon lesions normally represent a diagnostic challenge for the radiologist. In this first part of the study, the authors will approach five uncommon liver tumors - angiosarcoma, angiomyolipoma, cystadenoma/biliary carcinoma, epithelioid hemangioendothelioma, and fibrolamellar hepatocellular carcinoma -, describing their main characteristics and image findings with focus on computed tomography and magnetic resonance imaging. PMID:25741106
Gleason Grade Progression Is Uncommon
Penney, Kathryn L.; Stampfer, Meir J.; Jahn, Jaquelyn L; Sinnott, Jennifer A.; Flavin, Richard; Rider, Jennifer R.; Finn, Stephen; Giovannucci, Edward; Sesso, Howard D.; Loda, Massimo; Mucci, Lorelei A.; Fiorentino, Michelangelo
Gleason grade is universally used for pathologic scoring the differentiation of prostate cancer. However, it is unknown whether prostate tumors arise well-differentiated and then progress to less differentiated forms or if Gleason grade is an early and largely unchanging feature. Prostate Specific Antigen (PSA) screening has reduced the proportion of tumors diagnosed at advanced stage, which allows assessment of this question on a population level. If Gleason grade progresses as stage does, one would expect a similar reduction in high grade tumors. We studied 1,207 Physicians' Health Study and Health Professionals Follow-up Study participants diagnosed with prostate cancer 1982–2004 and treated with prostatectomy. We compared the distribution of grade and clinical stage across the pre-PSA and PSA screening eras. We re-reviewed grade using the ISUP 2005 revised criteria. The proportion of advanced stage tumors dropped more than six-fold, from the earliest period (12/1982–1/1993), 19.9% stage ?T3, to the latest (5/2000–12/2004), 3% stage T3, none T4. The proportion of Gleason score ?8 decreased substantially less, from 25.3% to 17.6%. A significant interaction between stage and diagnosis date predicting grade (p=0.04) suggests the relationship between grade and stage varies by time period. As the dramatic shift in stage since the introduction of PSA screening was accompanied by a more modest shift in Gleason grade, these findings suggest grade may be established early in tumor pathogenesis. This has implications for the understanding of tumor progression and prognosis, and may help patients diagnosed with lower grade disease feel more comfortable choosing active surveillance. PMID:23946472
Threatened and uncommon plants of New Zealand
P. J. de Lange; P. B. Heenan; D. R. Given; D. A. Norton; C. C. Ogle; P. N. Johnson; E. K. Cameron
A reappraisal of the conservation status of New Zealand's threatened and uncommon vascular plants is presented. The list comprises 511 taxa (22% of New Zealand's indigenous vascular flora) in the following categories: Presumed Extinct 5 taxa, Threatened 107 taxa (comprising 24 taxa Critically Endangered, 33 taxa Endangered, 50 taxa Vulnerable), Declining 60 taxa, Recovering 17 taxa (comprising 14 taxa Conservation
Diabetic mastopathy: an uncommon complication of diabetes mellitus.
Kirby, R X; Mitchell, D I; Williams, N P; Cornwall, D A; Cawich, S O
Introduction. Whilst most consequences of diabetes mellitus are well recognized, breast-related complications remain obscure. The term diabetic mastopathy (DMP) attempts to describe the breast-related consequences of diabetes. Methods. We report the clinicopathologic findings in a patient with DMP and review the literature on this uncommon entity. Results. A 33-year-old woman with type 1 diabetes had excision biopsy of a 2?cm breast lump. Histopathologic evaluation revealed classic features of DMP: parenchymal fibrosis; keloid-like hyalinization of interlobular stroma; adipose tissue entrapment; lobular compression; dense chronic inflammatory cell infiltration; and lymphoid follicle formation. Conclusion. Clinicians should be aware of DMP as a differential for breast disease in women with uncontrolled diabetes. PMID:23936718
Paraneoplastic pemphigus: an uncommon cause of chronic cicatrising conjunctivitis
Tam, Patrick Mang Kwan; Cheng, Lulu L; Young, Alvin L; Lam, Philip Tsze Ho
We report a case of paraneoplastic pemphigus (PNP) as an uncommon but severe cause of cicatrising conjunctivitis. Initially diagnosed as drug eruptions, the patient's condition did not improve despite cessation of chemotherapy. Immunohistological confirmation of PNP has led to the use of combined oral prednisolone and intravenous immunoglobulin. Her ocular conditions stabilised with complete recovery of vision. PNP is a rare disease that can present with ocular involvement. Ophthalmologists should play an active role in monitoring and treatment of ocular surface complications such as symblepharon formation, severe dry eye and epithelial breakdown. Vigorous and prompt treatment is the key to successful prevention of irreversible and blinding complications. The atypical feature in this case is the presence of eosinophilic infiltration on histology that is a feature of allergic aetiologies rather than classical PNP. PMID:21998619
Uncommon opportunistic fungi: new nosocomial threats.
Groll, A H; Walsh, T J
During the past two decades opportunistic fungal infections have emerged as important causes of morbidity and mortality in patients with severe underlying illnesses and compromised host defenses. While Aspergillus and Candida spp. collectively account for the majority of these infections, recent epidemiological trends indicate a shift towards infections by Aspergillus spp., nonalbicans Candida spp., as well as previously uncommon opportunistic fungi. Apart from an expanding number of different Zygomycetes, previously uncommon hyaline filamentous fungi (such as Fusarium species, Acremonium species, Paecilomyces species, Pseudallescheria boydii, and Scedosporium prolificans), dematiaceous filamentous fungi (such as Bipolaris species, Cladophialophora bantiana, Dactylaria gallopava, Exophiala species, and Alternaria species) and yeast-like pathogens (such as Trichosporon species, Blastoschizomyces capitatus, Malassezia species, Rhodotorula rubra and others) are increasingly encountered as causing life threatening invasive infections that are often refractory to conventional therapies. On the basis of past and current trends, the spectrum of fungal pathogens will continue to evolve in the settings of an expanding population of immunocompromised hosts, selective antifungal pressures, and shifting conditions in hospitals and the environment. An expanded and refined drug arsenal, further elucidation of pathogenesis and resistance mechanisms, establishment of in vitro/in vivo correlations, incorporation of pharmacodynamics, combination- and immunotherapies offer hope for substantial progress in prevention and treatment. PMID:11525222
Interstitial Lung Disease and Profound Hypoxaemia in a Severely-malnourished Child with Very Severe Pneumonia and Potential Lymph-node Tuberculosis: An Uncommon but Serious Co-morbidity
Parvin, Irin; Ashraf, Hasan; Saha, Haimanti; Matin, Fariha B.; Pietroni, Mark A.C.
A nine-month old boy was initially admitted at the Acute Respiratory Infection Unit of Dhaka Hospital of icddr,b and soon after transferred to the Intensive Care Unit of the same hospital. The boy had problems of very severe pneumonia (confirmed by radiology), severe hypoxaemia, severe malnutrition, and Down's syndrome. The patient was treated according to the hospital protocol for the management of pneumonia and malnutrition. During the hospital stay, hypoxaemia was persistent with very little improvement of pneumonia; a number of differentials, such as pneumocystis jirovecii pneumonia, lymph-node tuberculosis, were added to the problems. Subsequently, the patient's hypoxaemia improved with the empirical use of antitubercular drugs. However, the patient again developed persistent hypoxaemia and, after unsuccessful treatment for a hospital-acquired pneumonia, the problems further expanded to include interstitial lung disease (ILD). This was confirmed by high-resolution computed tomography, and the patient was treated with prednisolone for 6 months, along with antitubercular drugs. He fully recovered from ILD, hypoxaemia, and pneumonia both clinically and radiologically. Therefore, severely-malnourished children having wet cough and pneumonia with persistent hypoxaemia should be assessed for the possible existence of interstitial lung disease. This may help provide a prompt and appropriate management to reduce morbidity and deaths in such patients. PMID:23617214
Ultrasound guidance of uncommon nerve blocks
Thallaj, Ahmed
In the past nerve stimulation was considered the standard tool for anesthesiologists to locate the peripheral nerve for nerve blocks. However, with the recent introduction of ultrasound (US) technology for regional anesthesia, the use of nerve stimulation has become a rarity nowadays. There is a growing interest by most anesthesiologists in using US for nerve blocks because of its simplicity and accuracy. US is now available in most hospitals practicing regional anesthesia and is a popular tool for performance of nerve blocks. Although nerve stimulation became a rarity, however the use of it is now limited to identify small nerve structures, such as greater auricular nerve and medial antebrachial cutaneous nerve of the forearm. However, in this review article we discuss the role of ultrasonography for greater auricular and antebrachial cutaneous nerve blocks, which could replace nerve stimulation technique. We look at the available literature on the role of US for the performance of uncommon nerve blocks and its benefits. PMID:22144927
Uncommon Sense - The Heretical Nature of Science
NASA Astrophysics Data System (ADS)
Cromer, Alan
Most people believe that science arose as a natural end-product of our innate intelligence and curiosity, as an inevitable stage in human intellectual development. But physicist and educator Alan Cromer disputes this belief. Cromer argues that science is not the natural unfolding of human potential, but the invention of a particular culture, Greece, in a particular historical period. Indeed, far from being natural, scientific thinking goes so far against the grain of conventional human thought that if it hadn't been discovered in Greece, it might not have been discovered at all.In Uncommon Sense , Alan Cromer develops the argument that science represents a radically new and different way of thinking. Using Piaget's stages of intellectual development, he shows that conventional thinking remains mired in subjective, "egocentric" ways of looking at the world--most people even today still believe in astrology, ESP, UFOs, ghosts and other paranormal phenomena--a mode of thought that science has outgrown. He provides a fascinating explanation of why science began in Greece, contrasting the Greek practice of debate to the Judaic reliance on prophets for acquiring knowledge. Other factors, such as a maritime economy and wandering scholars (both of which prevented parochialism) and an essentially literary religion not dominated by priests, also promoted in Greece an objective, analytical way of thinking not found elsewhere in the ancient world. He examines India and China and explains why science could not develop in either country. In China, for instance, astronomy served only the state, and the private study of astronomy was forbidden. Cromer also provides a perceptive account of science in Renaissance Europe and of figures such as Copernicus, Galileo, and Newton. Along the way, Cromer touches on many intriguing topics, arguing, for instance, that much of science is essential complete; there are no new elements yet to be discovered. He debunks the vaunted SETI (Search for Extraterrestrial Intelligence) project, which costs taxpayers millions each year, showing that physical limits--such as the melting point of metal--put an absolute limit on the speed of space travel, making trips to even the nearest star all but impossible. Finally, Cromer discusses the deplorable state of science education in America and suggests several provocative innovations to improve high school education, including a radical proposal to give all students an intensive eighth and ninth year program, eliminating the last two years of high school.Uncommon Sense is an illuminating look at science, filled with provocative observations. Whether challenging Thomas Kuhn's theory of scientific revolutions, or extolling the virtues of Euclid's Elements , Alan Cromer is always insightful, outspoken, and refreshingly original.
Extraordinary electronic properties in uncommon structure types
NASA Astrophysics Data System (ADS)
Ali, Mazhar Nawaz
In this thesis I present the results of explorations into several uncommon structure types. In Chapter 1 I go through the underlying idea of how we search for new compounds with exotic properties in solid state chemistry. The ideas of exploring uncommon structure types, building up from the simple to the complex, using chemical intuition and thinking by analogy are discussed. Also, the history and basic concepts of superconductivity, Dirac semimetals, and magnetoresistance are briefly reviewed. In chapter 2, the 1s-InTaS2 structural family is introduced along with the discovery of a new member of the family, Ag0:79VS2; the synthesis, structure, and physical properties of two different polymorphs of the material are detailed. Also in this chapter, we report the observation of superconductivity in another 1s structure, PbTaSe2. This material is especially interesting due to it being very heavy (resulting in very strong spin orbit coulping (SOC)), layered, and noncentrosymmetric. Electronic structure calculations reveal the presence of a bulk 3D Dirac cone (very similar to graphene) that is gapped by SOC originating from the hexagonal Pb layer. In Chapter 3 we show the re-investigation of the crystal structure of the 3D Dirac semimetal, Cd3As2. It is found to be centrosymmetric, rather than noncentrosymmetric, and as such all bands are spin degenerate and there is a 4-fold degenerate bulk Dirac point at the Fermi level, making Cd3As2 a 3D electronic analog to graphene. Also, for the first time, scanning tunneling microscopy experiments identify a 2x2 surface reconstruction in what we identify as the (112) cleavage plane of single crystals; needle crystals grow with a [110] long axis direction. Lastly, in chapter 4 we report the discovery of "titanic" (sadly dubbed ?rge, nonsaturating" by Nature editors and given the acronym XMR) magnetoresistance (MR) in the non-magnetic, noncentrosymmetric, layered transition metal dichalcogenide WTe2; over 13 million% at 0.53 K in a magnetic field of 60 Tesla (the largest positive magnetoresistance ever reported). Unlike what is seen in other known materials, there is no saturation of the magnetoresistance value even at very high applied fields. In semimetals, very high MR may attributed to a balanced hole-electron "resonance" condition; as described here, WTe2 appears to be the first known material where this resonance is nearly perfect.
Ewing's Sarcoma: An Uncommon Breast Tumor.
Meddeb, Sawsen; Rhim, Mohamed Salah; Kouira, Mouna; Mestiri, Sarra; Bibi, Mohamed; Yacoubi, Mohamed Tahar
Ewing's sarcoma/primitive neuroectodermal tumors (EWS/PNET) are rare malignant and aggressive tumors, usually seen in the trunk and lower limbs of children and young adults. They are uncommon in the breast. We report a case of a 43-year-old woman who developed a painless breast mass. An initial core needle biopsy concluded to a fibrocystic dystrophy contrasting with a rapidly growing mass; thus a large lumpectomy was done. Diagnosis of primary PNET of the breast was established, based on both histopathological examination and immunohistochemical findings. Surgical margins were positive, therefore, left modified radical mastectomy with axillary lymph nodes dissection was performed. The patient was given 6 cycles of adjuvant chemotherapy containing cyclophosphamide, adriamycin and vincristine. Twenty months later, she is in life without recurrence or metastasis. EWS/PNET may impose a diagnostic challenge. Indeed, mammography and ultrasonography features are non specific. The histopathological pattern is variable depending on the degree of neuroectodermal differentiation. Immuno-phenotyping is necessary and genetic study is the only confirmatory tool of diagnosis showing a characteristic cytogenetic anomaly; t (11; 22) translocation. PMID:25332765
Syntheses and biological activities of daunorubicin analogs with uncommon sugars
Lizhi Zhu; Xianhua Cao; Wenlan Chen; Guisheng Zhang; Duxin Sun; Peng George Wang
To study the effects of the sugar structure on the activity of anthracycline against cancer cells, six daunorubicin analogs containing different uncommon sugars were synthesized. Their cytotoxicities were tested against colon cancer cells by MTS assay. The results showed that the aglycon without sugar moiety has 70–100-fold lower activity against cancer cells than daunorubicin derivatives with various uncommon sugars. It
Response to W. Gage's Article "Uncommonly Taught Languages."
ERIC Educational Resources Information Center
Hodge, Carleton T.
This paper, a commentary on W.W. Gage's article "Uncommonly Taught Languages" (AL 002 524), attempts to stress other aspects than those treated by Gage and points out the practical and technical needs of those interested in the field. The author views the goal of the study of uncommonly taught languages at the understanding of other peoples and…
Kimura's disease: An uncommon cause of lymphadenopathy
Kumar, Veerendra; Salini; Haridas, Savida
Lymph node enlargement of neck and axilla is one of the common presenting complaints in pediatrics. We are presenting here a very rare cause of axillary lymphadenopathy detected in a toddler. PMID:21206715
Uncommon CT Findings in Relapsing Polychondritis
Laura E. Faix; Barton F. Branstetter
Summary: Relapsing polychondritis is a rare inflammatory disorder of cartilage with well-established clinical features and imaging characteristics. Abnormal calcification and erosion of cartilaginous structures are the traditional ra- diographic findings. As with any disease, aberrancies of the expected clinical presentation may lead to a delayed (or missed) diagnosis. We discuss a rare case of relapsing polychondritis in which the diagnosis
Popliteal lymph node dissection for metastatic squamous cell carcinoma: a case report of an uncommon procedure for an uncommon presentation
Lymph node metastasis from cutaneous squamous cell carcinoma is uncommon. The popliteal fossa is rarely involved with metastasis. Popliteal lymph node dissection is uncommonly performed and not frequently discussed in the literature. We present a case of squamous cell carcinoma of the heel with popliteal and inguinal metastasis. This is followed by a description of the relevant anatomy of the popliteal fossa and the technique of popliteal lymphadenectomy. PMID:21999203
Solitary Angiokeratoma: Report of Two Uncommon Cases
Chowdappa, Vijaya; Narasimha, Aparna; Masamatti, Smitha S.
Angiokeratomas are rare benign vascular skin lesions arising in isolation or in groups of multiple lesions, as solitary cutaneous forms or generalized systemic forms. They are ectasias of dermal capillaries with an acanthotic and hyperkeratotic epidermis. They can occur in both healthy individuals and in those with underlying systemic disease due to inherited enzyme deficiency or other acquired predisposing factors. The identification and reporting of these lesions is important as patients with these lesions should be evaluated to rule out underlying pathogenic conditions. We report two rare cases of isolated solitary cutaneous angiokeratoma occurring in two patients. PMID:26155544
[Newborn with lung mass of uncommon etiology].
Pellegrino Cid, Christian; Maglio, Silvana; Gentile, Luis Fernando
Thoracic masses in neonates usually respond to congenital anomalies of the respiratory system. They comprise a large number of diseases that can compromise the development of larynx, trachea, bronchi, pulmonary parenchyma and diaphragm or chest wall. Diagnosis is carried out during prenatal period by ultrasound in most cases. In others, respiratory distress is diagnosed during post-birth examination or later as a radiological finding. We present the case of a full term newborn with prenatal diagnosis of cystic "lung mass". Physical examination was unremarkable except for decreased breath sounds on the right lung. Different image studies were carried out to characterize the lesion. The patient underwent surgery and chemotherapy at fifth month of life. Pleuropulmonary blastoma diagnosis was confirmed by pathological study of the surgical specimen. This is a rare intrathoracic malignant tumor, appearing almost exclusively in children less than 7-years-old. PMID:22760761
Tumefactive multiple sclerosis: an uncommon diagnostic challenge
Kaeser, Martha A.; Scali, Frank; Lanzisera, Frank P.; Bub, Glenn A.; Kettner, Norman W.
Objective This case report describes a rare presentation of multiple sclerosis (MS) that was initially diagnosed as a peripheral nerve lesion in the emergency department. Clinical Features A 30-year-old woman presented to a chiropractic teaching clinic with a complaint of a sudden right foot drop. Magnetic resonance imaging of the brain revealed a large mass in the left parietal lobe with additional white matter lesions. The mass and smaller lesions were consistent with a rare presentation of demyelinating disease, tumefactive MS. Intervention and Outcome The patient was referred to a neurologist for further evaluation and treatment. Her short-term clinical course was punctuated by recurrent myospasms and neurologic deficits. Conclusion Tumefactive MS may mimic the clinical and magnetic resonance imaging characteristics of glioma or a cerebral abscess. The clinical presentation, pathophysiology, differential diagnosis, role of diagnostic imaging, and treatment options of MS are described. This case report illustrates that the timely diagnosis and optimal treatment of MS require recognition of its varied, sometimes atypical, and often nonspecific clinical and imaging manifestations. PMID:22027206
Chromosomal imbalances are uncommon in chagasic megaesophagus
Background Chagas' disease is a human tropical parasitic illness and a subset of the chronic patients develop megaesophagus or megacolon. The esophagus dilation is known as chagasic megaesophagus (CM) and one of the severe late consequences of CM is the increased risk for esophageal carcinoma (ESCC). Based on the association between CM and ESCC, we investigated whether genes frequently showing unbalanced copy numbers in ESCC were altered in CM by fluorescence in situ (FISH) technology. Methods A total of 50 formalin-fixed, paraffin-embedded esophageal mucosa specimens (40 from Chagas megaesophagus-CM, and 10 normal esophageal mucosa-NM) were analyzed. DNA FISH probes were tested for FHIT, TP63, PIK3CA, EGFR, FGFR1, MYC, CDKN2A, YES1 and NCOA3 genes, and centromeric sequences from chromosomes 3, 7 and 9. Results No differences between superficial and basal layers of the epithelial mucosa were found, except for loss of copy number of EGFR in the esophageal basal layer of CM group. Mean copy number of CDKN2A and CEP9 and frequency of nuclei with loss of PIK3CA were significantly different in the CM group compared with normal mucosa and marginal levels of deletions in TP63, FHIT, PIK3CA, EGFR, CDKN2A, YES and gains at PIK3CA, TP63, FGFR1, MYC, CDNK2A and NCOA3 were detected in few CM cases, mainly with dilation grades III and IV. All changes occurred at very low levels. Conclusions Genomic imbalances common in esophageal carcinomas are not present in chagasic megaesophagus suggesting that these features will not be effective markers for risk assessment of ESCC in patients with chagasic megaesophagus. PMID:20163722
Primary paraesophageal Ewing's sarcoma: an uncommon case report and literature review
Tarazona, Noelia; Navarro, Lara; Cejalvo, Juan Miguel; Gambardella, Valentina; Pérez-Fidalgo, J Alejandro; Sempere, Alejo; Navarro, Samuel; Cervantes, Andrés
Ewing's sarcoma is a rare and highly aggressive cancer most frequently arising in people under 20 years of age. We report an uncommon case of primary paraesophageal Ewing's sarcoma in a 25-year-old male harboring the infrequent EWSR1/ERG fusion transcript with multiple splice variants coexisting in the same tumor. The patient was totally refractory to chemotherapy and died 17 months after diagnosis. We underscore the need for better understanding of the molecular pathogenesis of the disease and improved systemic therapy options. PMID:25999740
Advocacy: Emphasizing the Uncommon about the Common Core State Standards
ERIC Educational Resources Information Center
Kaplan, Sandra N.
The author describes key issues and uncommon concerns about the Common Core State Standards that fit within two categories: philosophical and pedagogical. Philosophically, Common Core State K-12 Standards should not be expected to be mastered at a specific grade level but based on developmental readiness. Pedagogically, Common Core State Standards…
5 CFR 630.210 - Uncommon tours of duty.
Code of Federal Regulations, 2013 CFR
...establish an uncommon tour of duty for each firefighter compensated under part 550, subpart...duty shall correspond directly to the firefighter's regular tour of duty, as defined...1302 of this chapter, so that each firefighter accrues and uses leave on the...
5 CFR 630.210 - Uncommon tours of duty.
Code of Federal Regulations, 2012 CFR
...establish an uncommon tour of duty for each firefighter compensated under part 550, subpart...duty shall correspond directly to the firefighter's regular tour of duty, as defined...1302 of this chapter, so that each firefighter accrues and uses leave on the...
5 CFR 630.210 - Uncommon tours of duty.
Code of Federal Regulations, 2014 CFR
...establish an uncommon tour of duty for each firefighter compensated under part 550, subpart...duty shall correspond directly to the firefighter's regular tour of duty, as defined...1302 of this chapter, so that each firefighter accrues and uses leave on the...
Catalog of Uncommon Facilities in Western Colleges and Universities.
ERIC Educational Resources Information Center
Viehland, Dennis, Comp.
A list of rare, and often unique, facilities in the western part of the United States is presented that is designed to serve as a resource for researchers. The list of facilities is a guide to what uncommon equipment, centers or institutes, and collections are available at western higher education facilities and what provisions exist for sharing…
Thoracoscopic surgery for pulmonary oncocytoma, an uncommon neoplasm
Zhang, B.; Jin, J.; Ye, Z.; Zheng, H.
Oncocytoma is an uncommon neoplasm with a characteristic histologic feature of abundant eosinophilic granular cytoplasm. It almost always occurs in kidney, thyroid, or salivary gland. Pulmonary oncocytoma is a rare pulmonary neoplasm, with fewer than 10 cases reported so far in the available English literature. We encountered one such case that was successfully managed by thoracoscopic lobectomy. PMID:24523615
Uncommon aetiological agents of catheter-related bloodstream infections.
Reigadas, E; Rodríguez-Créixems, M; Sánchez-Carrillo, C; Martín-Rabadán, P; Bouza, E
The clinical and microbiological characteristics of catheter-related bloodstream infection (CR-BSI) due to uncommon microorganisms was assessed in a retrospective case-control study over a 9-year period in a tertiary teaching hospital. Uncommon microorganisms were defined as those representing <0·5% of all CR-BSI. Diagnosis of CR-BSI required that the same microorganism was grown from at least one peripheral venous blood culture and a catheter tip culture. Thirty-one episodes of CR-BSI were identified due to 13 different genera and these accounted for 2·3% of all CR-BSI in the hospital. Although these infections were not associated with increased mortality, they occurred in patients with more severe underlying conditions who were receiving prolonged antibiotic therapy. PMID:24887020
Human syngamosis as an uncommon cause of chronic cough.
Pulcherio, Janaína Oliveira Bentivi; Machado da Silva, Eduardo Oliveira; Rezende, Daniela Pereira; Barbeira, Patrícia Bittencourt Barcia; Machado, Rosane Siciliano; Baptista de Oliveira, Marcos Aurélio
Introduction?Chronic cough may represent a diagnostic challenge. Chronic parasitism of upper airways is an unusual cause. Objective?To describe a case of human syngamosis as an uncommon cause of dry cough. Case Report?An endoscopic exam performed in a woman suffering of chronic cough revealed a Y-shaped worm in the larynx identified as Syngamus laryngeus. Discussion?This nematode parasitizes the upper respiratory tract of many animals including humans. The diagnosis is performed by the examination of the worm expelled by cough or by endoscopy. Endoscopic exam is easy to perform and is essential in the diagnosis of causes of chronic cough, even uncommon entities. Removal is the only efficient treatment. PMID:25992048
Three uncommon adrenal incidentalomas: a 13-year surgical pathology review
Background The discovery of adrenal incidentalomas due to the widespread use of sophisticated abdominal imaging techniques has resulted in an increasing trend of adrenal gland specimens being received in the pathology laboratory. In this context, we encountered three uncommon adrenal incidentalomas. The aim of this manuscript is to report in detail the three index cases of adrenal incidentalomas in the context of a 13-year retrospective surgical pathology review. Methods The three index cases were investigated and analyzed in detail with relevant review of the English literature as available in PubMed and Medline. A 13-year retrospective computer-based histopathological surgical review was conducted in our laboratory and the results were analyzed in the context of evidence-based literature on adrenal incidentalomas. Results A total of 94 adrenal specimens from incidentalomas were identified, accounting for 0.025% of all surgical pathology cases. In all 76.6% were benign and 23.4% were malignant. A total of 53 females (56.4%) and 41 males (43.6%) aged 4 to 85?years were identified. The benign lesions included cortical adenoma (43.1%), pheochromocytoma (29.3%) and inflammation/fibrosis/hemorrhage (8.3%). Metastatic neoplasms were the most common malignant lesions (50%) followed by primary adrenocortical carcinomas (31.8%) and neuroblastoma (13.6%). These cases were discovered as adrenal incidentalomas that led to surgical exploration. The three index cases of adrenal incidentalomas with unusual pathologies were encountered that included (a) adrenal ganglioneuroma, (b) periadrenal schwannoma and (c) primary adrenal pleomorphic leiomyosarcoma. These cases are discussed, with a literature and clinicopathological review. Conclusions Adrenal lesions are uncommon surgical specimens in the pathology laboratory. However, higher detection rates of adrenal incidentalomas aided by the ease of laparoscopic adrenalectomy has resulted in increased adrenal surgical specimens leading to unsuspected diagnostic and management dilemmas. Accurate pathological identification of common and uncommon adrenal incidentalomas is essential for optimal patient management. PMID:22540324
Common variable immunodeficiency disorder - An uncommon cause for bronchiectasis
Panigrahi, Manoj Kumar
Bronchiectasis continues to be a common respiratory problem of varied etiology. Common variable immunodeficiency disorder (CVID) is an uncommon cause for bronchiectasis. However, the prevalence of bronchiectasis remains very high in patients with CVID. This remains largely an underdiagnosed entity as primary immunodeficiency is not suspected in adults as a cause of bronchiectasis and hence, serum immunoglobulin (Ig) levels are not measured routinely. In addition to bronchiectasis, patients with CVID usually present with various extrapulmonary symptoms. I report here a case of young man who presented with bronchiectasis and multisystem complains who was diagnosed as CVID. PMID:25378851
Primary Ewing's sarcoma of cervical vertebra: An uncommon presentation.
Chhabra, Sonia; Singh, Sunita; Sethi, Divya; Mahapatra, Qury Sabita
Ewing's sarcoma is a malignant primary bone tumor primarily seen in the long bones. Primary Ewing's sarcoma of the cranium is quite uncommon occurring in 1% of the cases. We report the occurrence of this rare lesion in a 24-year-old male presenting with progressively increasing swelling in left mastoid region mimicking a mastoid abscess which was later diagnosed on Fine needle aspiration cytology (FNAC) as a small round cell tumor as Ewing's sarcoma. Contrast enhanced computed tomography (CECT) revealed a typical moth eaten appearance in the first and second cervical vertebra. PMID:25126127
Struma Ovarii in Pregnancy: An Uncommon Cause of Hyperthyroidism.
Merza, Zayd; White, Duncan; Khanem, Noor
A 28-year-old woman presented with weight loss and tiredness. Investigations revealed hyperthyroidism. She was commenced on treatment and later became pregnant. Her thyroid levels remained raised, and she later underwent an elective cesarean delivery and ovarian cystectomy. Only a partial cystectomy was achieved, and histopathology examination revealed struma ovarii. An isotope uptake scan (I) including her pelvis revealed low uptake in the thyroid gland and an area of high uptake in her pelvis. The cyst was subsequently removed, and within days, her thyroid hormone levels dropped. This case illustrates the importance of considering uncommon causes of hyperthyroidism. PMID:26018691
Giant Cutaneous Horn Overlying A Verruca at an Uncommon Site: Medical Marvel vs Superstitious Dilemma
Sanjeeva, Karthik Kathladka; Ali, Puttur Sainuddin Mohammed Ameer; Rao, Srikar; Rai, Arvind Shivram
Cutaneous horn has been a matter of discussion to mankind since time immemorial and a subject of fascination for the layman. There have been instances where certain groups saw it with angst and disgust, with a person having a large cutaneous horn on an exposed area getting a dismal look. We present a case of a 64-year-old man with a giant cutaneous horn over his left gluteal region. Cutaneous horns more commonly present in the sun-exposed areas. In our case it has presented in an uncommon site. The patient had delayed and denied medical treatment due to his superstitious beliefs, after having sought advice from faith healers leading to progression of the disease. This case has been presented for its giant size (rare variety), its location being over the gluteal region (photo-protected site) and its benign histopathology suggestive of wart in spite of the giant size. PMID:26023596
Lobulated capillary haemangioma: a common lesion in an uncommon site.
Varma, Siddhartha; Gangavati, Rashmi; Sundaresh, K J; Mallikarjuna, Rachappa
Pyogenic granuloma (PG) is a well-known localised granulation tissue overgrowth. It remains an aetiopathological enigma, with trauma, inflammatory and infectious agents being the suspected causative factors. It is a relatively common benign mucocutaneous lesion occurring intraorally or extraorally and is more common in women in the second decade of their lives than in men. Although it is a common lesion it may present with varying clinical features that sometimes may mimic more serious lesions such as malignancies. The clinical diagnosis of such lesion can be quite challenging. This case report drives attention towards the uncommon location of PG of lobular capillary haemangioma type occurring on anterior palate. Surgical excision of the lesion was planned because of the discomfort attributed to large size of the lesion and hindrance in mastication. PMID:23417947
Lobulated capillary haemangioma: a common lesion in an uncommon site
Varma, Siddhartha; Gangavati, Rashmi; Sundaresh, K J; Mallikarjuna, Rachappa
Pyogenic granuloma (PG) is a well-known localised granulation tissue overgrowth. It remains an aetiopathological enigma, with trauma, inflammatory and infectious agents being the suspected causative factors. It is a relatively common benign mucocutaneous lesion occurring intraorally or extraorally and is more common in women in the second decade of their lives than in men. Although it is a common lesion it may present with varying clinical features that sometimes may mimic more serious lesions such as malignancies. The clinical diagnosis of such lesion can be quite challenging. This case report drives attention towards the uncommon location of PG of lobular capillary haemangioma type occurring on anterior palate. Surgical excision of the lesion was planned because of the discomfort attributed to large size of the lesion and hindrance in mastication. PMID:23417947
Facial vein thrombophlebitis: an uncommon complication of sinusitis.
Cotes, Claudia; Riascos, Roy; Swischuk, Leonard E
Facial vein thrombophlebitis is an uncommon complication of sinusitis. In cases where periorbital swelling complicating sinusitis is diagnosed, clinical findings of swelling and erythema extending beyond the orbital region into the cheek should alert the physician about this unusual complication and the need for further contrast-enhanced imaging and venography. The radiologist must be particularly careful in the evaluation of vascular structures of the face and neck in these children. CT and MRI with contrast material and MR venography are studies that clearly demonstrate the vascular anatomy and possible complications. However, MR venography confirms flow abnormalities within the venous system with the advantage of avoiding radiation exposure to the pediatric patient. PMID:25636529
Iliac crest bone graft donor site hernia: not so uncommon
Prabhu, Raghunath; Kumar, Nawin; Shenoy, Rajgopal
A 73-year-old man, who had undergone fracture fixation of humerus with LCP plating and bone grafting, presented again with a peri-implant fracture after 1?year. A repeat surgery was contemplated and replating was performed with tricortical bone graft harvested from the iliac crest. In the postoperative period the patient developed a tender swelling at the graft site with nausea and abdominal discomfort. It was managed conservatively thinking it to be a haematoma at the graft site. In the following 2?days his symptoms worsened. A CT abdomen showed the herniation of caecum from the bone graft donor site with obstruction. The patient was taken up for emergency surgical repair, the caecum was reduced and polypropylene mesh hernioplasty was performed. The patient recovered well without recurrence in the follow-up period. Iliac crest bone graft site hernia is not so uncommon and care has to be taken while harvesting. PMID:23761618
Recognizing Uncommon Presentations of Psychogenic (Functional) Movement Disorders
Baizabal-Carvallo, José Fidel; Fekete, Robert
Background Psychogenic or functional movement disorders (PMDs) pose a challenge in clinical diagnosis. There are several clues, including sudden onset, incongruous symptoms, distractibility, suggestibility, entrainment of symptoms, and lack of response to otherwise effective pharmacological therapies, that help identify the most common psychogenic movements such as tremor, dystonia, and myoclonus. Methods In this manuscript, we review the frequency, distinct clinical features, functional imaging, and neurophysiological tests that can help in the diagnosis of uncommon presentations of PMDs, such as psychogenic parkinsonism, tics, and chorea; facial, palatal, and ocular movements are also reviewed. In addition, we discuss PMDs at the extremes of age and mass psychogenic illness. Results Psychogenic parkinsonism (PP) is observed in less than 10% of the case series about PMDs, with a female–male ratio of roughly 1:1. Lack of amplitude decrement in repetitive movements and of cogwheel rigidity help to differentiate PP from true parkinsonism. Dopamine transporter imaging with photon emission tomography can also help in the diagnostic process. Psychogenic movements resembling tics are reported in about 5% of PMD patients. Lack of transient suppressibility of abnormal movements helps to differentiate them from organic tics. Psychogenic facial movements can present with hemifacial spasm, blepharospasm, and other movements. Some patients with essential palatal tremor have been shown to be psychogenic. Convergence ocular spasm has demonstrated a high specificity for psychogenic movements. PMDs can also present in the context of mass psychogenic illness or at the extremes of age. Discussion Clinical features and ancillary studies are helpful in the diagnosis of patients with uncommon presentations of psychogenic movement disorders. PMID:25667816
Cutaneous manifestations of gastrointestinal diseases
Erin E. Boh; Raed Mahmoud
There are a myriad of dermatologic disorders asso- ciated with gastrointestinal (GI) diseases. This article covers the common dermatologic conditions that may be associated with underlying GI diseases and several uncommon conditions that the dermatologist should recognize as being associated with GI disor- ders. Table 1 presents an outline of the diseases that are covered. Inflammatory bowel diseases Inflammatory disorders
Trends in photomechanics: fashion, practicality, and uncommon applications
NASA Astrophysics Data System (ADS)
Cloud, Gary L.
Many advances in optics theory and technology have been stimulated by the demands of engineering research. From another viewpoint, the science of optics unifies diverse important areas of experimental research. Fundamental problems in fluid mechanics, rock mechanics, biomechanics, fracture mechanics, materials science, manufacturing technology, nondestructive inspection, and glacier mechanics are being solved by methods of optical metrology. The development of expertise and facilities to have in hand the most appropriate of available techniques is a forbidding task, but it is necessary in order to solve problems in the most efficient way. This paper describes in elementary terms some examples of applications which are relatively uncommon, including biomechanical contouring, glacier strain and flow measurement, 3-dimensional fracture mechanics, and nondestructive inspection of composites. In each case, one or more techniques, some fashionable and some old-fashioned, were adapted, extended or combined to perform the necessary measurements. The rationales for choosing the methods to solve each problem are outlined. The techniques include electronic speckle, electronic shearography, moire interferometry, moire photography with optical filtering, differential moire contouring, Doppler velocimetry, and noncoherent-light speckle photography.
Comparison of uncommon EGFR exon 21 L858R compound mutations with single mutation
Peng, Liang; Song, Zhigang; Jiao, Shunchang
Non-small-cell lung cancer with epidermal growth factor receptor (EGFR) mutation is sensitive to EGFR tyrosine kinase inhibitors (TKIs). But little is known about the response to EGFR TKIs and the prognostic role of compound mutations. This study compared the uncommon EGFR exon 21 L858R compound mutations with single mutation to characterize EGFR compound mutations and investigated their response to EGFR TKI treatment. We retrospectively screened 799 non-small-cell lung cancer patients from August 1, 2009 to June 1, 2012 by EGFR mutation testing. EGFR mutations were detected in 443 patients, with 22 (4.97%) compound mutations. Subsequently, six patients with EGFR exon 21 L858R compound mutations and 18 paired patients with single L858R mutation were well characterized. Finally, we also analyzed the EGFR TKI treatment response and patients' outcomes of compound or single L858R mutations. There was no differential treatment effect on the disease control rate and objective response rate between the L858R compound mutations and single mutation groups. No significant difference in overall survival or progression-free survival of these two groups was found by log-rank test. In conclusion, we demonstrated that no significant difference was detected in the response to EGFR TKIs and patients' outcomes in the compound and single mutation groups. PMID:25960661
Karyomegalic nephropathy: an uncommon cause of progressive renal failure
Sunil Bhandari; Steven Kalowski; Paul Collett; Bridget E. Cooke; Peter Kerr; Ronald Newland; John Dowling; John Horvath
Background. Karyomegalic nephropathy, first identi- fied in 1974, represents an increasingly recognized, but perhaps underdiagnosed condition associated with interstitial nephritis. It undoubtedly leads to end-stage renal disease requiring renal support. Methods and results. We present a series of six cases of karyomegalic nephropathy. The age at diagnosis was 9-51 years, median 33 years. Impaired renal func- tion, proteinuria, and haematuria
Abdominopelvic actinomycosis in three different locations with invasion of the abdominal wall and ureteric obstruction: An uncommon presentation
Galata, Christian L.; Vogelmann, Roger; Gaiser, Timo; Post, Stefan; Horisberger, Karoline
Introduction Actinomycosis is a rare chronic infectious disease caused by Gram-positive anaerobic bacteria that normally colonize the bronchial system and gastrointestinal tract in humans. The most common diseases associated with actinomycosis are orocervicofacial, thoracic and abdominal infections involving Actinomyces israelii. Due to its rarity, its various clinical presentations and often-infiltrative characteristics in radiological imaging, it can easily be mistaken for other clinical conditions, including malignancy. Presentation of case We present an uncommon case of extended abdominopelvic actinomycosis with infiltrative lesions in multiple locations, including an abscess in the abdominal wall and ureteric obstruction, which underwent successful surgical and subsequent long-term antibiotic therapy. Discussion To our knowledge, such a combination of different sites of manifestation has not yet been reported for actinomycosis in the presence of an IUD. Possible differential diagnoses included diverticulitis with covered perforation, pelvic inflammatory disease, tuberculosis and inflammatory bowel disease. The possibility of a malignant process required radical resection. As in most cases of actinomycosis, diagnosis could not be established with certainty until postoperative pathology investigation. Conclusion A rare actinomyceal infection should be considered in patients with a non-specific pelvic mass and atypical abdominal presentations, especially if a previous history of IUD usage is known. PMID:26001364
Myeloid sarcoma of the breast in an aleukemic patient: a rare entity in an uncommon location.
Nalwa, A; Nath, D; Suri, V; Jamaluddin, M A; Srivastava, A
Myeloid sarcoma (MS) is an extramedullary solid neoplasm of immature myeloid cells. These tumours usually develop in concurrence with or following acute leukemia. The breast is an uncommon site for presentation of this tumour, where it is often misdiagnosed as lymphoma or carcinoma.A 33- year-old female presented with a right breast lump in a private hospital, which was diagnosed as ductal carcinoma on lumpectomy. Subsequently she developed a lump in the left breast and a similar diagnosis of carcinoma was made on biopsy. A left mastectomy was performed. Histopathological examination revealed a tumour composed of mononuclear cells arranged in sheets and cords with round to oval vesicular nuclei and occasional prominent nucleoli. IHC for CK was very weak and focal. The tumour cells were immunonegative for ER, PR, Her2neu,epithelial membrane antigen, e-cadherin, CD3 and CD20. Diffuse immunopositivity for myeloperoxidase, CD34 and CD117 established a diagnosis of myeloid sarcoma. A histopathological review of the right breast lesion, with immunohistochemistry, also confirmed the diagnosis of myeloid sarcoma. Investigatory workup for acute myeloid leukemia, including bone marrow aspirate and biopsy and karyotypic studies, proved negative. The patient was treated with high dose cytarabine (HDAC) regimen and was disease free during the 12-month follow-up.Although extremely rare, awareness of such a presentation is crucial. This case also illustrates that careful histopathological review along with an expanded panel of immunohistochemistry is extremely important for recognizing such cases as a misdiagnosis can lead to unnecessary surgery and inappropriate therapy. PMID:25890617
Dercum's disease (adiposis dolorosa).
Reece, P H; Wyatt, M; O'Flynn, P
Dercum's disease (adiposis dolorosa) is a rare condition characterized by progressively painful fatty deposits, usually, in menopausal women with obesity, asthenia and mental phenomena. We report a case of a 48-year-old woman with recurrent neck swelling and pain in the neck and parotid region, and a review of management of this uncommon problem. PMID:10396574
Blue rubber bleb naevus disease: an uncommon cause of gastrointestinal tract bleeding.
Jennings, M; Ward, P; Maddocks, J L
A 23 year old woman presented with facial pain, a right parotid tumour and iron deficiency anaemia. She had several cutaneous venous swellings and tumours with a similar appearance were found in the large bowel. Histological examination of the parotid tumour and angiography of the skin and gut lesions confirmed that they were venous in origin. The aetiology, classification, and complications of disorders of the venous system and the importance of using a tourniquet to examine the peripheral veins is discussed. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 Fig. 7 Fig. 8 Fig. 9 PMID:3264257
Granuloma annulare of the penis: a uncommon location for an usual disease.
Suarez Peńaranda, Jose Manuel; Aliste, Carlos
The subcutaneous clinical variant of granuloma annulare (GA) is rare and tends to present more frequently in children, in locations unusual for conventional GA. Involvement of the penis is exceptional and has been rarely reported. Most cases are located in the shaft of the penis and tend to persist without spontaneous remission. Diagnosis is done only after biopsy, and surgical resection of the lesions is not unusual. We report a new case of subcutaneous GA of the penis in a 13-year-old boy with lesions persistent for the past year. Surgical excision of one of them allowed the correct diagnosis. No further treatment was done, and the condition has not remitted 1 year later. We stress the importance of clinical recognition of unusual presentations of GA to avoid overtreatment of lesions that do not need an aggressive approach. PMID:21242757
Cayler Cardio-Facial Syndrome: An Uncommon Condition in Newborns
Pawar, Sunil Jayaram; Sharma, Deepak Kumar; Srilakshmi, Sela; Reddy Chejeti, Suguna; Pandita, Aakash
Introduction: Cayler cardio-facial syndrome is a rare syndrome associated with asymmetric crying faces with congenital heart disease. We report a newborn that was diagnosed as case of Cayler Cardio-facial syndrome based on clinical features and was confirmed with FISH analysis. Case Presentation: A term male baby, born to non-consanguineous couple through normal vaginal delivery was diagnosed to have asymmetric crying faces with deviation of angle of mouth to left side at the time of birth. The baby had normal faces while sleeping or silent. Mother was known case of hypothyroidism and was on treatment. Baby was diagnosed as case of Cayler Cardio-facial Syndrome and was investigated with echocardiogram, brain ultrasound, total body X-ray examination, X-ray of cervico-thoracic vertebral column and fundus examination. Echocardiogram showed muscular VSD, brain ultrasound was normal and fundus examination showed tortuous retinal vessels. Whole body X-ray and lateral X-ray of cervico-thoracic vertebral column were not suggestive of any skeletal abnormalities. The other associated malformation was right ear microtia. Baby FISH karyotype analysis showed deletion of 22q11.2 deletion. Baby was discharged and now on follow-up. Conclusions: Cayler syndrome is a rare syndrome which must be suspected if a baby has asymmetrical cry pattern and normal facies when baby sleeps. Patient must be evaluated with echocardiography to find out associated cardiac malformations. These infants should undergo FISH analysis for 22q11.2 deletion syndrome. PMID:26196008
Uncommon Applications of Deep Brain Stimulation in Hyperkinetic Movement Disorders
Smith, Kara M.; Spindler, Meredith A.
Background In addition to the established indications of tremor and dystonia, deep brain stimulation (DBS) has been utilized less commonly for several hyperkinetic movement disorders, including medication-refractory myoclonus, ballism, chorea, and Gilles de la Tourette (GTS) and tardive syndromes. Given the lack of adequate controlled trials, it is difficult to translate published reports into clinical use. We summarize the literature, draw conclusions regarding efficacy when possible, and highlight concerns and areas for future study. Methods A Pubmed search was performed for English-language articles between January 1980 and June 2014. Studies were selected if they focused primarily on DBS to treat the conditions of focus. Results We identified 49 cases of DBS for myoclonus-dystonia, 21 for Huntington's disease, 15 for choreacanthocytosis, 129 for GTS, and 73 for tardive syndromes. Bilateral globus pallidus interna (GPi) DBS was the most frequently utilized procedure for all conditions except GTS, in which medial thalamic DBS was more common. While the majority of cases demonstrate some improvement, there are also reports of no improvement or even worsening of symptoms in each condition. The few studies including functional or quality of life outcomes suggest benefit. A limited number of studies included blinded on/off testing. There have been two double-blind controlled trials performed in GTS and a single prospective double-blind, uncontrolled trial in tardive syndromes. Patient characteristics, surgical target, stimulation parameters, and duration of follow-up varied among studies. Discussion Despite these extensive limitations, the literature overall supports the efficacy of DBS in these conditions, in particular GTS and tardive syndromes. For other conditions, the preliminary evidence from small studies is promising and encourages further study. PMID:25713746
Languages of South Asia. A Survey of Materials for the Study of the Uncommonly Taught Languages.
ERIC Educational Resources Information Center
Johnson, Dora E.; And Others
This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of South Asia. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). The emphasis is on materials for the adult learner whose native language is…
An uncommon case of a suicide with inhalation of hydrogen cyanide
F. Musshoff; K. M. Kirschbaum; B. Madea
An uncommon suicide by oral ingestion of potassium cyanide salts and contemporaneous inhalation of hydrogen cyanide is presented. A 48-year-old tradesman was found dead sitting in his car. A penetrating odor of bitter almonds was noticed when opening the doors. A camping stove and a cooking pot containing large amounts of dark blue crystals were found in the footwell of
Escherichia coli maltose-binding protein is uncommonly effective at promoting the solubility
Escherichia coli maltose-binding protein is uncommonly effective at promoting the solubility of a recombinant protein in Escherichia coli, obtaining the protein in a soluble, biologically active form-prone polypeptide to a highly soluble partner. To study this phenomenon in greater detail, we compared the ability
Uncommon acute neurologic presentation of canine distemper in 4 adult dogs
Galán, Alba; Gamito, Araceli; Carletti, Beatrice E.; Guisado, Alicia; de las Mulas, Juana Martín; Pérez, José; Martín, Eva M.
Four uncommon cases of canine distemper (CD) were diagnosed in vaccinated adult dogs. All dogs had acute onset of neurologic signs, including seizures, abnormal mentation, ataxia, and proprioceptive deficits. Polymerase chain reaction for CD virus was positive on cerebrospinal fluid in 2 cases. Due to rapid deterioration the dogs were euthanized and CD was confirmed by postmortem examination. PMID:24688139
Thoracolumbar fracture with listhesis--an uncommon manifestation of child abuse
Terry L. Levin; Walter E. Berdon; Ian Cassell; Netta M. Blitman
Background. Thoracolumbar fracture with listhesis (FL) is an uncommon manifestation of child abuse (increasingly known as nonaccidental trauma), with only six prior reports in the literature. Objective. This article seeks to call attention to FL of the thoracolumbar spine in abused children and infants. Materials and methods. We reviewed plain films, CT and MR images in seven new cases of
Autism is uncommon in 22q: the how and why of wrong diagnoses
Nguyen, Danh
Autism is uncommon in 22q: the how and why of wrong diagnoses Kathleen Angkustsiri, Khyati Disclosures · Co-investigator on clinical trials in autism and fragile X syndrome Novartis Roche Seaside Pharmaceuticals Forest Laboratories #12;22q and Autism Spectrum Disorders · Autism Spectrum Disorders
Distribution Patterns of Ohio Stoneflies, with an Emphasis on Rare and Uncommon Species
Grubbs, Scott A.; Pessimo, Massimo; DeWalt, R. Edward
Presently, 102 stonefly species (Plecoptera) have been reported from Ohio. All 9 Nearctic families are represented. Over 90% of the fauna exhibit a combination of broad Nearctic-widespread, eastern Nearctic-widespread, Appalachian, and eastern Nearctic-unglaciated distributions. In contrast, only 2 species display a central Nearctic-Prairie distribution. Seven species of Perlidae are likely no longer present (Acroneuria evoluta Klapálek, A. perplexa Frison, Attaneuria ruralis (Hagen), and Neoperla mainensis Banks) or have experienced marked range reductions (Acroneuria abnormis (Newman), A. frisoni Stark and Brown, and A. filicis Frison). Another nearly 31% of the fauna (32 species) are rare, uncommon, or have highly-limited distributions within the state. Twelve of these species have Appalachian distributions, and an additional 8 have eastern Nearctic-unglaciated distributions. The distributional status for each of the 32 rare/uncommon species is discussed. PMID:24219390
A Rare Case of Unrecognized and Uncommon Bladder Perforation after Transobturator Tape Procedure
K?l?nç, Ercüment; Akpak, Ya?am Kemal
The transobturator tape (TOT) procedure has become practically widespread worldwide. Complications seem to be rare, but recognizing them intraoperatively is the most significant step because some of the complications which may appear in postoperative period can be challenging for both physicians and patients. The purpose of this case, with this patient who was operated on with open surgery, is to evaluate this rarely seen unrecognized and uncommon bladder perforation after TOT procedure and thus make some contribution to the literature. Here, we present a case report about the treatment of a 48-year-old woman patient with unrecognized and uncommon bladder perforation after TOT procedure, 5 months postoperatively. Cystoscopic evaluation is not recommended routinely, but it must be performed if the patient is complicated enough to create doubt and also the surgeon's skill and ability are not sufficient enough to operate decently. PMID:25685154
The Cyborg Astrobiologist: Scouting Red Beds for Uncommon Features with Geological Significance
Patrick Charles McGuire; Enrique Díaz Martínez; Jens Ormö; Javier Gómez-Elvira; José Antonio Rodríguez Manfredi; Eduardo Sebastián-Martínez; Helge Ritter; Robert Haschke; Markus Oesker; Jörg Ontrup
Abstract The 'Cyborg Astrobiologist' has undergone a second geologi cal field trial, at a site in northern Guadalajara, Spain, near Riba de Santiuste. The site at Riba de Santiuste is dominated by layered deposits of red sandstones. The Cyborg Astrobiologist is a wearable,computer,and video camera system that has demonstrated,a capability to find uncommon interest points in geological imagery in realtime
Uncommon causes of anterior urethral diverticula in children: Two cases and review of literature
Smith, Grahame H. H.; Deshpande, Aniruddh V.; Tang, Robert W. K.
Anterior urethral diverticula are rare in children. Anterior urethral valves and associated diverticulum is the commonly discussed pathological entity in children. There is a lack of awareness among clinicians regarding less common presentations of anterior urethral diverticula in children; which can have a diverse involvement of the urinary tract. This report describes two uncommon presentations of anterior urethral diverticula in children, their diagnoses and management. A systematic differential diagnosis and review of anterior urethral diverticula in children is also presented. PMID:24669129
Common and uncommon adult unilateral renal masses other than renal cell carcinoma
Le, Ott; Roy, Anjali; Silverman, Paul M.; Kundra, Vikas
Abstract Many different masses can involve the kidney other than the commonly encountered renal cell carcinoma (RCC). The purpose of this article is to review the characteristic clinical and imaging findings of common and uncommon masses that predominantly present unilaterally in the adult patient, other than RCC. Awareness of such lesions and knowing the clinical scenario is important for appropriate diagnosis and management, especially in a multidisciplinary care setting. PMID:22752221
The quadriceps tendon cyst: an uncommon cause of chronic anterior knee pain
C. H. Siebert; A. Kaufmann; C. Niedhart; K.-D. Heller
The causes of knee pain are manifold. One of the uncommon causes of chronic anterior knee pain are cysts and ganglia. Magnetic\\u000a resonance imaging not only reveals the intra-articular pathology but also accurately depicts such cystic structures about\\u000a the knee. As part of this case report, a cyst of the lateral border of the quadriceps tendon is presented as a
Moral identity and the experience of moral elevation in response to acts of uncommon goodness.
Aquino, Karl; McFerran, Brent; Laven, Marjorie
Four studies using survey and experimental designs examined whether people whose moral identity is highly self-defining are more susceptible to experiencing a state of moral elevation after being exposed to acts of uncommon moral goodness. Moral elevation consists of a suite of responses that motivate prosocial action tendencies. Study 1 showed that people higher (vs. lower) in moral identity centrality reported experiencing more intense elevating emotions, had more positive views of humanity, and were more desirous of becoming a better person after reading about an act of uncommon goodness than about a merely positive situation or an act of common benevolence. Study 2 showed that those high in moral identity centrality were more likely to recall acts of moral goodness and experience moral elevation in response to such events more strongly. These experiences were positively related to self-reported prosocial behavior. Study 3 showed a direct effect on behavior using manipulated, rather than measured, moral identity centrality. Study 4 replicated the effect of moral identity on the states of elevation as well as on self-reported physical sensations and showed that the elevation mediates the relationship between moral identity, witnessing uncommon goodness, and prosocial behavior. PMID:21443375
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height
Lanktree, Matthew B.; Guo, Yiran; Murtaza, Muhammed; Glessner, Joseph T.; Bailey, Swneke D.; Onland-Moret, N. Charlotte; Lettre, Guillaume; Ongen, Halit; Rajagopalan, Ramakrishnan; Johnson, Toby; Shen, Haiqing; Nelson, Christopher P.; Klopp, Norman; Baumert, Jens; Padmanabhan, Sandosh; Pankratz, Nathan; Pankow, James S.; Shah, Sonia; Taylor, Kira; Barnard, John; Peters, Bas J.; M. Maloney, Cliona; Lobmeyer, Maximilian T.; Stanton, Alice; Zafarmand, M. Hadi; Romaine, Simon P.R.; Mehta, Amar; van Iperen, Erik P.A.; Gong, Yan; Price, Tom S.; Smith, Erin N.; Kim, Cecilia E.; Li, Yun R.; Asselbergs, Folkert W.; Atwood, Larry D.; Bailey, Kristian M.; Bhatt, Deepak; Bauer, Florianne; Behr, Elijah R.; Bhangale, Tushar; Boer, Jolanda M.A.; Boehm, Bernhard O.; Bradfield, Jonathan P.; Brown, Morris; Braund, Peter S.; Burton, Paul R.; Carty, Cara; Chandrupatla, Hareesh R.; Chen, Wei; Connell, John; Dalgeorgou, Chrysoula; Boer, Anthonius de; Drenos, Fotios; Elbers, Clara C.; Fang, James C.; Fox, Caroline S.; Frackelton, Edward C.; Fuchs, Barry; Furlong, Clement E.; Gibson, Quince; Gieger, Christian; Goel, Anuj; Grobbee, Diederik E.; Hastie, Claire; Howard, Philip J.; Huang, Guan-Hua; Johnson, W. Craig; Li, Qing; Kleber, Marcus E.; Klein, Barbara E.K.; Klein, Ronald; Kooperberg, Charles; Ky, Bonnie; LaCroix, Andrea; Lanken, Paul; Lathrop, Mark; Li, Mingyao; Marshall, Vanessa; Melander, Olle; Mentch, Frank D.; J. Meyer, Nuala; Monda, Keri L.; Montpetit, Alexandre; Murugesan, Gurunathan; Nakayama, Karen; Nondahl, Dave; Onipinla, Abiodun; Rafelt, Suzanne; Newhouse, Stephen J.; Otieno, F. George; Patel, Sanjey R.; Putt, Mary E.; Rodriguez, Santiago; Safa, Radwan N.; Sawyer, Douglas B.; Schreiner, Pamela J.; Simpson, Claire; Sivapalaratnam, Suthesh; Srinivasan, Sathanur R.; Suver, Christine; Swergold, Gary; Sweitzer, Nancy K.; Thomas, Kelly A.; Thorand, Barbara; Timpson, Nicholas J.; Tischfield, Sam; Tobin, Martin; Tomaszweski, Maciej; Verschuren, W.M. Monique; Wallace, Chris; Winkelmann, Bernhard; Zhang, Haitao; Zheng, Dongling; Zhang, Li; Zmuda, Joseph M.; Clarke, Robert; Balmforth, Anthony J.; Danesh, John; Day, Ian N.; Schork, Nicholas J.; de Bakker, Paul I.W.; Delles, Christian; Duggan, David; Hingorani, Aroon D.; Hirschhorn, Joel N.; Hofker, Marten H.; Humphries, Steve E.; Kivimaki, Mika; Lawlor, Debbie A.; Kottke-Marchant, Kandice; Mega, Jessica L.; Mitchell, Braxton D.; Morrow, David A.; Palmen, Jutta; Redline, Susan; Shields, Denis C.; Shuldiner, Alan R.; Sleiman, Patrick M.; Smith, George Davey; Farrall, Martin; Jamshidi, Yalda; Christiani, David C.; Casas, Juan P.; Hall, Alistair S.; Doevendans, Pieter A.; D. Christie, Jason; Berenson, Gerald S.; Murray, Sarah S.; Illig, Thomas; Dorn, Gerald W.; Cappola, Thomas P.; Boerwinkle, Eric; Sever, Peter; Rader, Daniel J.; Reilly, Muredach P.; Caulfield, Mark; Talmud, Philippa J.; Topol, Eric; Engert, James C.; Wang, Kai; Dominiczak, Anna; Hamsten, Anders; Curtis, Sean P.; Silverstein, Roy L.; Lange, Leslie A.; Sabatine, Marc S.; Trip, Mieke; Saleheen, Danish; Peden, John F.; Cruickshanks, Karen J.; März, Winfried; O'Connell, Jeffrey R.; Klungel, Olaf H.; Wijmenga, Cisca; Maitland-van der Zee, Anke Hilse; Schadt, Eric E.; Johnson, Julie A.; Jarvik, Gail P.; Papanicolaou, George J.; Grant, Struan F.A.; Munroe, Patricia B.; North, Kari E.; Samani, Nilesh J.; Koenig, Wolfgang; Gaunt, Tom R.; Anand, Sonia S.; van der Schouw, Yvonne T.; Soranzo, Nicole; FitzGerald, Garret A.; Reiner, Alex; Hegele, Robert A.; Hakonarson, Hakon; Keating, Brendan J.
Height is a classic complex trait with common variants in a growing list of genes known to contribute to the phenotype. Using a genecentric genotyping array targeted toward cardiovascular-related loci, comprising 49,320 SNPs across approximately 2000 loci, we evaluated the association of common and uncommon SNPs with adult height in 114,223 individuals from 47 studies and six ethnicities. A total of 64 loci contained a SNP associated with height at array-wide significance (p < 2.4 × 10?6), with 42 loci surpassing the conventional genome-wide significance threshold (p < 5 × 10?8). Common variants with minor allele frequencies greater than 5% were observed to be associated with height in 37 previously reported loci. In individuals of European ancestry, uncommon SNPs in IL11 and SMAD3, which would not be genotyped with the use of standard genome-wide genotyping arrays, were strongly associated with height (p < 3 × 10?11). Conditional analysis within associated regions revealed five additional variants associated with height independent of lead SNPs within the locus, suggesting allelic heterogeneity. Although underpowered to replicate findings from individuals of European ancestry, the direction of effect of associated variants was largely consistent in African American, South Asian, and Hispanic populations. Overall, we show that dense coverage of genes for uncommon SNPs, coupled with large-scale meta-analysis, can successfully identify additional variants associated with a common complex trait. PMID:21194676
Uncommon Implantation Sites of Ectopic Pregnancy: Thinking beyond the Complex Adnexal Mass.
Chukus, Anjeza; Tirada, Nikki; Restrepo, Ricardo; Reddy, Neelima I
Ectopic pregnancy occurs when implantation of the blastocyst takes place in a site other than the endometrium of the uterine cavity. Uncommon implantation sites of ectopic pregnancy include the cervix, interstitial segment of the fallopian tube, scar from a prior cesarean delivery, uterine myometrium, ovary, and peritoneal cavity. Heterotopic and twin ectopic pregnancies are other rare manifestations. Ultrasonography (US) plays a central role in diagnosis of uncommon ectopic pregnancies. US features of an interstitial ectopic pregnancy include an echogenic interstitial line and abnormal bulging of the myometrial contour. A gestational sac that is located below the internal os of the cervix and that contains an embryo with a fetal heartbeat is indicative of a cervical ectopic pregnancy. In a cesarean scar ectopic pregnancy, the gestational sac is implanted in the anterior lower uterine segment at the site of the cesarean scar, with thinning of the myometrium seen anterior to the gestational sac. An intramural gestational sac implants in the uterine myometrium, separate from the uterine cavity and fallopian tubes. In an ovarian ectopic pregnancy, a gestational sac with a thick hyperechoic circumferential rim is located in or on the ovarian parenchyma. An intraperitoneal gestational sac is present in an abdominal ectopic pregnancy. Intra- and extrauterine gestational sacs are seen in a heterotopic pregnancy. Two adnexal heartbeats suggest a live twin ectopic pregnancy. Recognition of the specific US features will help radiologists diagnose these uncommon types of ectopic pregnancy. (©)RSNA, 2015. PMID:25860721
Uncommon Surgical Causes Of Right Lower Quadrant Pain In Children. Single Center Experience.
Papageorgiou, Irene; Kepertis, Chrysostomos; Sfoungaris, Dimitrios; Spyridakis, Ioannis
Right lower quadrant pain is one of the major reasons of children reference at the emergency department. The most common surgical cause, which needs appropriate management, is acute appendicitis. The purpose of this study is to reveal uncommon surgical causes found during surgery in children who were misdiagnosed as acute appendicitis in our department during the last 10 y. Data of patients who have undergone appendicectomy during a ten year period (since Feb 2004 until Mar 2014) were collected retrospectively. Eight hundred twenty children have undergone appendicectomy in our department. In six children another uncommon cause of the symptoms was revealed during surgery. In one patient the cause was a duplication cyst of the terminal ileum, in two patients an omental torsion, in one patient a meckel diverticulum torsion, in one patient a splenic rupture and in one patient a retroperitoneal tumor. All of the patients were successfully managed during the first operation. The possibility of other uncommon causes of right quadrant abdominal pain should always be kept in mind, especially when there is a negative appendicitis. However, the transaction of further paraclinical examinations – ultrasonography or computed tomography- preoperatively is under discussion. Nevertheless a thoroughly taken case history is undoubtedly always necessary.
Characterization of uncommon portosystemic collateral circulations in patients with hepatic cirrhosis.
Wu, Qin; Shen, Lijun; Chu, Jindong; Ma, Xuemei; Jin, Bo; Meng, Fanping; Chen, Jinpin; Wang, Yanling; Wu, Libing; Han, Jun; Zhang, Wenhui; Ma, Wei; Wang, Huaming; Li, Hanwei
The purpose of the present study was to characterize uncommon portosystemic collateral circulation in hepatic cirrhosis. Portosystemic uncommon collateral circulation (UCC) was detected, characterized and evaluated by a combination of spiral computed tomography angiography, three-dimensional imaging angiography and electronic gastroscopy in patients diagnosed with hepatic cirrhosis. In total, 118 cases with UCC were detected from a pool of 700 hepatic cirrhosis patients with portal hypertension. The incidence was 16.86% and included cases with splenic-renal, gastro-renal, paravertebral, retroperitoneal, gastric-splenic and cardio-phrenic angle vein shunts. The occurrence rate of UCC formation increased with the Child-Pugh grade. Compared with common collateral circulations, the incidence of severe esophageal or gastric fundus varicose veins, severe portal hypertensive gastropathy and the incidence of a large quantity of ascites was much lower in the patients with UCC (P<0.01), whereas the incidence of hepatic encephalopathy and chronic elevated blood ammonia levels was significantly higher (P<0.01). The incidence of uncommon portosystemic collateral circulation is extremely common in patients with liver cirrhosis and is associated with the Child-Pugh grades of hepatic function. UCC can aid in the relief of the complications derived from portal hypertension, but it may increase the incidence of hepatic encephalopathy and chronic elevated blood ammonia levels. PMID:25435990
Common Misconceptions in the Diagnosis and Management of Anemia in Inflammatory Bowel Disease
Javier P. Gisbert; Fernando Gomollón
Anemia is the most common systemic complication of inflammatory bowel disease (IBD); so common that it is almost invariably not investigated and rarely treated. Several misconceptions are the reason for these clinical errors, and our goal will be to review them. The most common misconceptions are: anemia is uncommon in IBD; iron deficiency is also uncommon; just by treating the
Surgical Management of Infants with Congenital Lobar Emphysema and Concomitant Congenital Heart Disease
Riza Dogan; Omer Faruk Dogan; Mustafa Yilmaz; Metin Demircin; Ilhan Pasaoglu; Nural Kiper; Ugur Ozcelik; Erkmen Boke
Objective: Congenital lobar emphysema (CLE) is an uncommon cause of infantile respiratory distress. It is diag- nosed on the basis of evidence of lobar overaeration, mediasti- nal shift, and compression of the adjacent lobe. Concomitant congenital heart disease (CHD) and CLE is not uncommon. In the literature a 12% to 20% concomitance rate is given. The optimal treatment of respiratory
Isolated infantile myofibromatosis of the upper eyelid: uncommon localization and long-term results after surgical management.
Gatibelza, Marie-Eve; Vazquez, Birmania Ramos; Bereni, Natacha; Denis, Daničle; Bardot, Jacques; Degardin, Nathalie
Myofibroma, the most common juvenile fibrous disorder in infancy, usually manifests as a solitary soft tissue tumor and less commonly as simultaneous multiple tumors in both soft tissue and bones. Infantile myofibromatosis is well described in the head and neck, but cutaneous lesions rarely occur in the periorbit and orbit, where fast growth and bone damage can mimic malignant tumors. We describe a case of a solitary periorbital myofibroma in a newborn. Treatment consisted of partial excision of the tumor. Histologic and immunohistochemistry analyses provided the diagnosis of infantile myofibromatosis. The patient remains disease-free at 10 years of age, but with some visual impairment. Infantile myofibromatosis is an uncommon tumor with exceptional periorbital involvement. Differential diagnosis can be difficult when it is solely based on histologic assessment. Immunohistochemistry evaluation demonstrating cytoplasmic actin filaments in neoplastic spindle cells confirms the diagnosis. As soon as the diagnosis is made, chest and abdominal imaging must be performed to evaluate the overall prognosis and direct treatment. The treatment of choice is early conservative surgery to minimize functional and/or esthetic damage. Complete tumor excision is not always possible. Lengthy ophthalmologic monitoring is required to detect the onset of amblyopia. PMID:22813815
Small peptide inhibitors of acetyl-peptide hydrolase having an uncommon mechanism of inhibition and a stable bent conformation.
Sandomenico, A; Russo, A; Palmieri, G; Bergamo, P; Gogliettino, M; Falcigno, L; Ruvo, M
Acyl peptide hydrolase (APEH) catalyzes the removal of acetyl-amino acids from the N-terminus of peptides and cytoplasmic proteins. Due to the role played in several diseases, and to the growing interest around N-terminal acetylation, studies on APEH structure, function, and inhibition are attracting an ever increasing attention. We have therefore screened a random tetrapeptide library, N-capped with selected groups, and identified a trifluoroacetylated tetrapeptide (CF(3)-lmph) which inhibits the enzyme with a K(i) of 24.0 ± 0.8 ?M. The inhibitor is selective for APEH, shows an uncommon uncompetitive mechanism of inhibition, and in solution adopts a stable bent conformation. CF(3)-lmph efficiently crosses cell membranes, blocking the cytoplasmic activity of APEH; however, it triggers a mild pro-apoptotic effect as compared to other competitive and noncompetitive inhibitors. The unusual inhibition mechanism and the stable structure make the new compound a novel tool to investigate enzyme functions and a useful scaffold to develop more potent inhibitors. PMID:22309188
A severe foodborne outbreak of diarrhoea linked to a canteen in Italy caused by enteroinvasive Escherichia coli, an uncommon agent.
Escher, M; Scavia, G; Morabito, S; Tozzoli, R; Maugliani, A; Cantoni, S; Fracchia, S; Bettati, A; Casa, R; Gesu, G P; Torresani, E; Caprioli, A
We describe a foodborne outbreak in Italy caused by enteroinvasive Escherichia coli (EIEC), an enteric pathogen uncommon in industrialized countries. On 14 April 2012 a number of employees of the city of Milan Fire Brigade (FB) were admitted to hospital with severe diarrhoea after attending their canteen. Thirty-two patients were hospitalized and a total of 109 cases were identified. A case-control study conducted on 83 cases and 32 controls attending the canteen without having symptoms identified cooked vegetables to be significantly associated with the disease. Stool samples collected from 62 subjects were screened for enteric pathogens using PCR-based commercial kits: 17 cases and two asymptomatic kitchen-workers were positive for the Shigella marker gene ipaH; an ipaH-positive EIEC strain O96:H19 was isolated from six cases. EIEC may cause serious dysentery-like outbreaks even in Western European countries. Microbiologists should be aware of microbiological procedures to detect EIEC, to be applied especially when no common enteric pathogens are identified. PMID:24534429
Trichuris suis therapy in Crohn's disease
R W Summers; D E Elliott; J F Urban Jr; R Thompson; J V Weinstock; James A
Background: Crohn's disease is common in highly industrialised Western countries where helminths are rare and uncommon in less developed areas of the world where most people carry worms. Helminths diminish immune responsiveness in naturally colonised humans and reduce inflammation in experimental colitis. Thus exposure to helminths may help prevent or even ameliorate Crohn's disease. Aims: The aim of the study
Relationship Between Uncommon Computed Tomography Findings and Clinical Aspects in Patients With Acute Pyelonephritis
Kim, Jang Sik; Lee, Sangwook; Lee, Kwang Woo; Kim, Young Ho; Kim, Min Eui
Purpose Computed tomography (CT) has become popular in the diagnosis of acute pyelonephritis (APN) and its related complications in adults. The aim of this study was to investigate the relationship between uncommon CT findings and clinical and laboratory data in patients with APN. Materials and Methods From July 2009 to July 2012, CT findings and clinical data were collected from 125 female patients with APN. The six uncommon CT findings (excluding a wedge-shaped area of hypoperfusion in the renal parenchyma) studied were perirenal fat infiltration, ureteral wall edema, renal abscess formation, pelvic ascites, periportal edema, and renal scarring. The clinical parameters analyzed were the age and body mass index of the patients as well as the degree and duration of fever. Laboratory parameters related to inflammation and infection included white blood cell count, C-reactive protein (CRP) level, erythrocyte sedimentation rate, pyuria, and bacteriuria. Results The most common CT finding was perirenal fat infiltration (69 cases, 55%). A longer duration of fever, higher CRP level, and grade of pyuria were related with perirenal fat infiltration (p=0.010, p=0.003, and p=0.049, respectively). The CRP level was significantly higher in patients with renal abscess and ureteral wall edema (p=0.005 and p=0.015, respectively). Conclusions The uncommon CT findings that were related to aggravated clinical and laboratory parameters of APN patients were perirenal fat infiltration, ureteral wall edema, and renal abscess formation. The inflammatory reaction and tissue destruction may be more aggressive in patients with these CT findings. PMID:25045448
Intraoral Neurinoma of the Lingual Nerve: An Uncommon Tumor in Floor of the Mouth
Kumar kuppusamy, Santhosh; Ramkumar, Subramaniyam; Narasimhan, Malathi; Azariah Dhiravia Sargunam, Emmanuel
Neurinoma or schwannoma is an uncommon benign tumor that arises primarily from the nerve sheath of Schwann cells. About 25% has been reported in head and neck region extracranially, but only 1% in the intraoral origin. Intraorally, the tongue is the most common site followed by the palate, floor of the mouth, lips and buccal mucosa. In review of literature, intraoral schwannoma of the lingual nerve origin has not been reported frequently. So, we present a case of intraoral neurinoma of the lingual nerve. PMID:24639903
Common and uncommon vascular rings and slings: a multi-modality review.
Dillman, Jonathan R; Attili, Anil K; Agarwal, Prachi P; Dorfman, Adam L; Hernandez, Ramiro J; Strouse, Peter J
Vascular rings and pulmonary slings are congenital anomalies of the aortic arch/great vessels and pulmonary arteries, respectively, that commonly present early during infancy and childhood with respiratory and/or feeding difficulties. The diagnosis of these conditions frequently utilizes a multi-modality radiological approach, commonly utilizing some combination of radiography, esophagography, CT angiography and MR angiography. The purpose of this pictorial review is to illustrate the radiological findings of common and uncommon vascular rings and pulmonary slings in children using a state-of-the-art multi-modality imaging approach. PMID:21594540
Uncommon Breeding Birds in North Dakota: Population Estimates and Frequencies of Occurrence
NSDL National Science Digital Library
The Northern Prairie Wildlife Research Center (NPWRC) has posted five newly online resources at the Center's homepage. These scientific articles were originally published in print journals, but are fully (and freely) available here, complete with figures. The final paper is by authors Lawrence D. Igl, Douglas H. Johnson, and Harold A. Kantrud, and was originally published in 1999 in Canadian field-Naturalist [113(4):646-651]. The paper presents statewide population estimates and frequencies of occurrence of uncommon species, based on surveys conducted in 1967, 1992, and 1993. All papers may be downloaded as .zip files.
Pneumonia by Listeria monocytogenes: A Common Infection by an Uncommon Pathogen
Koufakis, Theocharis; Chatzopoulou, Marianneta; Margaritis, Anastasios; Tsiakalou, Maria; Gabranis, Ioannis
Infections by Listeria monocytogenes typically occur in infants, the elderly, pregnant women, and immunosuppressed subjects. Pulmonary infections in adults are extremely uncommon and only few reports can be found in the literature. We here report a case of Listeria pneumonia in an 85-year-old female patient and we discuss our diagnostic and therapeutic approach. Despite being rare and in most cases difficult to be identified, Listeria pneumonia should always be considered in immunosuppressed patients, presenting with fever and symptoms from the lower respiratory system. PMID:25802774
Uncommon sarcomas of the uterine cervix: a review of selected entities
Fadare, Oluwole
Sarcomas constitute less than 1% of all cervical malignancies. With over 150 reported cases, rhabdomyosarcomas represent the most commonly reported sarcoma at this location. In this report, a select group of the more uncommon sarcomas of the uterine cervix are reviewed, including all previously reported examples of leiomyosarcoma, liposarcoma, alveolar soft part sarcoma, Ewing sarcoma/primitive neuroectodermal tumor, undifferentiated endocervical sarcoma, and malignant peripheral nerve sheath tumor (MPNST). Emphasis is placed on any distinctive clinicopathologic features of these entities at this unusual location. PMID:16981999
Nodal Involvement in Hodgkin Disease
Stephen I. Marglin
\\u000a Hodgkin Disease (HD) is an uncommon disease, accounting for less than 1% of all neoplasms that occur yearly in the United\\u000a States, and only 30% of all lymphomas. Despite this, it has been estimated that nearly 8,000 new cases of HD will be diagnosed\\u000a in 2003, and that approximately 1,300 patients will die, These statistics, coupled with a appreciation for
An uncommon treatment of totally extruded and lost talus: a case report
Introduction Total extrusion and loss of the talus is a rare injury with a wide choice of appropriate treatment, but rarely resulting in a fully functional recovery. We report on an uncommon case, both for the severity of the injury and for the uncommon treatment due to the patient's rejection of secondary surgery. Case presentation We treated a 16-year-old Caucasian man with the most extreme variant of a totally extruded and lost talus, accompanied with complex injury of the soft tissues of the ankle and foot. The treatment included urgent microvascular foot reimplantation, microvascular muscle free flap transfer, and temporary fixation. This kind of injury should typically be treated by tibiocalcaneal arthrodesis. However, this was not performed, as after the successful early stages of the treatment he strongly objected to another surgery due to his fully functional status and the successful therapeutic results of our early treatment. Conclusions The injury described in this case study would ordinarily be treated by amputation, but due to the well-executed treatment in the early stages after the injury, the outcome was satisfying. Surprisingly and against our expectations, the late results of the treatment were successful even without arthrodesis. He is now 37 years old and has a functional foot 21 years after the injury. PMID:25266945
Apomictic parthenogenesis in a parasitoid wasp Meteorus pulchricornis, uncommon in the haplodiploid order Hymenoptera.
Tsutsui, Y; Maeto, K; Hamaguchi, K; Isaki, Y; Takami, Y; Naito, T; Miura, K
Although apomixis is the most common form of parthenogenesis in diplodiploid arthropods, it is uncommon in the haplodiploid insect order Hymenoptera. We found a new type of spontaneous apomixis in the Hymenoptera, completely lacking meiosis and the expulsion of polar bodies in egg maturation division, on the thelytokous strain of a parasitoid wasp Meteorus pulchricornis (Wesmael) (Braconidae, Euphorinae) on pest lepidopteran larvae Spodoptera litura (Fabricius) (Noctuidae). The absence of the meiotic process was consistent with a non-segregation pattern in the offspring of heterozygous females, and no positive evidence was obtained for the induction of thelytoky by any bacterial symbionts. We discuss the conditions that enable the occurrence of such rare cases of apomictic thelytoky in the Hymenoptera, suggesting the significance of fixed heterosis caused by hybridization or polyploidization, symbiosis with bacterial agents, and occasional sex. Our finding will encourage further genetic studies on parasitoid wasps to use asexual lines more wisely for biological control. PMID:24521569
Treatment of uncommon sites of focal primary hyperhidrosis: experience with pharmacological therapy using oxybutynin
Teivelis, Marcelo Passos; Wolosker, Nelson; Krutman, Mariana; Kauffman, Paulo; de Campos, José Ribas Milanez; Puech-Leăo, Pedro
OBJECTIVES: Primary hyperhidrosis usually affects the hands, armpits, feet and cranio-facial region. Sweating in other areas is common in secondary hyperhidrosis (after surgery or in specific clinical conditions). Oxybutynin has provided good results and is an alternative for treating hyperhidrosis at common sites. Our aim was to evaluate the efficacy of oxybutynin as a treatment for primary sweating at uncommon sites (e.g., the back and groin). METHODS: This retrospective study analyzed 20 patients (10 females) who received oxybutynin for primary focal hyperhidrosis at uncommon sites. The subjects were evaluated to determine quality of life before beginning oxybutynin and six weeks afterward and they were assigned grades (on a scale from 0 to 10) to measure their improvement at each site of excessive sweating after six weeks and at the last consult. RESULTS: The median follow-up time with oxybutynin was 385 days (133-1526 days). The most common sites were the back (n?=?7) and groin (n?=?5). After six weeks, the quality of life improved in 85% of the subjects. Dry mouth was very common and was reported by 16 patients, 12 of whom reported moderate/severe dry mouth. Five patients stopped treatment (two: unbearable dry mouth, two: excessive somnolence and one: palpitations). At the last visit, 80% of patients presented with moderate/great improvement at the main sites of sweating. CONCLUSION: After six weeks, more than 80% of the patients presented with improvements in their overall quality of life and at the most important site of sweating. Side effects were common (80% reported at least one side effect) and caused 25% of the patients to discontinue treatment. Oxybutynin is effective for treating bothersome hyperhidrosis, even at atypical locations and most patients cope well with the side effects. PMID:25318092
Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer
Tang, Wei; Fu, Yi-Ping; Figueroa, Jonine D.; Malats, Núria; Garcia-Closas, Montserrat; Chatterjee, Nilanjan; Kogevinas, Manolis; Baris, Dalsu; Thun, Michael; Hall, Jennifer L.; De Vivo, Immaculata; Albanes, Demetrius; Porter-Gill, Patricia; Purdue, Mark P.; Burdett, Laurie; Liu, Luyang; Hutchinson, Amy; Myers, Timothy; Tardón, Adonina; Serra, Consol; Carrato, Alfredo; Garcia-Closas, Reina; Lloreta, Josep; Johnson, Alison; Schwenn, Molly; Karagas, Margaret R.; Schned, Alan; Black, Amanda; Jacobs, Eric J.; Diver, W. Ryan; Gapstur, Susan M.; Virtamo, Jarmo; Hunter, David J.; Fraumeni, Joseph F.; Chanock, Stephen J.; Silverman, Debra T.; Rothman, Nathaniel; Prokunina-Olsson, Ludmila
A recent genome-wide association study of bladder cancer identified the UGT1A gene cluster on chromosome 2q37.1 as a novel susceptibility locus. The UGT1A cluster encodes a family of UDP-glucuronosyltransferases (UGTs), which facilitate cellular detoxification and removal of aromatic amines. Bioactivated forms of aromatic amines found in tobacco smoke and industrial chemicals are the main risk factors for bladder cancer. The association within the UGT1A locus was detected by a single nucleotide polymorphism (SNP) rs11892031. Now, we performed detailed resequencing, imputation and genotyping in this region. We clarified the original genetic association detected by rs11892031 and identified an uncommon SNP rs17863783 that explained and strengthened the association in this region (allele frequency 0.014 in 4035 cases and 0.025 in 5284 controls, OR = 0.55, 95%CI = 0.44–0.69, P = 3.3 × 10?7). Rs17863783 is a synonymous coding variant Val209Val within the functional UGT1A6.1 splicing form, strongly expressed in the liver, kidney and bladder. We found the protective T allele of rs17863783 to be associated with increased mRNA expression of UGT1A6.1 in in-vitro exontrap assays and in human liver tissue samples. We suggest that rs17863783 may protect from bladder cancer by increasing the removal of carcinogens from bladder epithelium by the UGT1A6.1 protein. Our study shows an example of genetic and functional role of an uncommon protective genetic variant in a complex human disease, such as bladder cancer. PMID:22228101
Sarcoid heart disease: clinical course and treatment
Raed Bargout; Russell F. Kelly
Sarcoidosis is a rare granulomatous disease of unknown etiology that can affect any organ. Cardiac involvement, although uncommon, has a wide spectrum of clinical manifestations and is potentially fatal. Although there is no agreement upon a strategy for the diagnosis (which is difficult to make based on clinical information alone), the introduction of newer technology is promising and may be
Brachial artery reconstruction for occlusive disease: A 12-year experience
Sean P. Roddy; R. Clement Darling; Benjamin B. Chang; Paul B. Kreienberg; Philip S. K. Paty; William E. Lloyd; Dhiraj M. Shah
Objective: Symptomatic arterial disease of the upper extremity is an uncommon problem. In this study, we evaluate our results with brachial artery reconstruction in patients who present with symptomatic atherosclerotic occlusive disease and compare this cohort's demographics with a similar group with lower extremity ischemia. Methods: From 1986 to 1998, all patients presenting for upper extremity revascularization with chronic ischemia
Bile Acid Synthetic Defects and Liver Disease: A Comprehensive Review
Kevin E. Bove; James E. Heubi; William F. Balistreri; Kenneth D. R. Setchell
Bile acid synthetic defects (BASD), uncommon genetic disorders that are responsible for approximately 2% of persistent cholestasis in infants, are reviewed with emphasis on morphology of associated liver disease. The associated liver diseases may be life threatening, and are treatable, usually by replacement of deficient primary bile acids. Specific diagnosis is made by analysis of body fluids (bile, blood, and
Languages of Southeast Asia and the Pacific. A Survey of Materials for the Study of the Uncommonly Taught Languages.
ERIC Educational Resources Information Center
Johnson, Dora E.; And Others
This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of Southeast Asia and the Pacific. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). The emphasis is on materials for the adult whose native…
Languages of the Middle East and North Africa. A Survey of Materials for the Study of the Uncommonly Taught Languages.
ERIC Educational Resources Information Center
Johnson, Dora E.; And Others
This is an annotated bibliography of basic tools of access for the study of the uncommonly taught languages of the Middle East and North Africa. It is one of eight fascicles which constitute a revision of "A Provisional Survey of Materials for the Study of the Neglected Languages" (CAL 1969). The emphasis is on materials for the adult learner…
Radiation Therapy Planning: an Uncommon Application of Lisp Ira J. Kalet, Robert S. Giansiracusa, Craig Wilcox, and Matthew Lease
Yetisgen-Yildiz, Meliha
1 shows a typical radiation therapy machine. Radiation, such as X-rays (high energy photonsRadiation Therapy Planning: an Uncommon Application of Lisp Ira J. Kalet, Robert S. Giansiracusa in the Univer- sity of Washington Cancer Center a complex med- ical application of Common Lisp, the Prism radia
Symptomatic Myocarditis in Kawasaki Disease
Pooja Aggarwal; Deepti Suri; Nidhi Narula; Rohit Manojkumar; Surjit Singh
Kawasaki disease (KD) is an acute febrile illness of infants and young children that is characterized by a medium vessel vasculitis,\\u000a most commonly involving the coronary arteries. Though subclinical myocarditis is rather common in KD, symptomatic congestive\\u000a heart failure is extremely uncommon. The authors report a 9-y-old boy who developed heart failure (ejection fraction 28%)\\u000a in the acute phase of
Ancient Schwannoma of the hard palate. An uncommon case report and review
Gainza-Cirauqui, Maria L.; Eguía-Del Valle, Asier; Martínez-Conde, Rafael; Coca-Meneses, Juan C.; Aguirre-Urizar, José M.
Schwannoma or neurilemmoma is an infrequent benign tumor in the oral cavity that originates from the Schwann cells on the neural sheath of the peripheral nerves. Schwannomas are frequently located in the soft tissues of head and neck region, but only a 1 to 12% of them are located in the oral cavity. Some histological variants of schwannoma have been described including the cellular, plexiform, epithelioid, ancient, and melanocytic types. The "ancient schwannoma" is an uncommon variant of this tumor that shows specific histological characteristics, and is rare in the oral cavity with less than 15 cases described on the literature. Most of them were located in the tongue or in the floor of the mouth, being the hard palate an extremely rare localization. We present a new clinical case of an ancient schwannoma with a long time of evolution, arising from the nasopalatine nerve, and located in the hard palate of a 35 year old female. We also review the main clinical and histological characteristics of this pathology. Key words:Ancient schwannoma, neurilemmoma, palate, schwannoma. PMID:24455054
Ancient Schwannoma of the hard palate. An uncommon case report and review.
Gainza-Cirauqui, Maria L; Eguía-Del Valle, Asier; Martínez-Conde, Rafael; Coca-Meneses, Juan C; Aguirre-Urizar, José M
Schwannoma or neurilemmoma is an infrequent benign tumor in the oral cavity that originates from the Schwann cells on the neural sheath of the peripheral nerves. Schwannomas are frequently located in the soft tissues of head and neck region, but only a 1 to 12% of them are located in the oral cavity. Some histological variants of schwannoma have been described including the cellular, plexiform, epithelioid, ancient, and melanocytic types. The "ancient schwannoma" is an uncommon variant of this tumor that shows specific histological characteristics, and is rare in the oral cavity with less than 15 cases described on the literature. Most of them were located in the tongue or in the floor of the mouth, being the hard palate an extremely rare localization. We present a new clinical case of an ancient schwannoma with a long time of evolution, arising from the nasopalatine nerve, and located in the hard palate of a 35 year old female. We also review the main clinical and histological characteristics of this pathology. Key words:Ancient schwannoma, neurilemmoma, palate, schwannoma. PMID:24455054
Spontaneous internal carotid artery dissection: an uncommon cause of recurrent postpartum headache.
Stamboulis, Elefterios; Raptis, Georgios; Andrikopoulou, Athina; Arvaniti, Chrisa; Brountzos, Elias; Oikonomopoulos, Nikos; Stefanis, Leonidas; Voumvourakis, Konstantinos
Postpartum spontaneous cervicocephalic artery dissection is an uncommon, poorly understood condition following pregnancy. We report a case of a 32-year-old woman with no history of trauma, chiropractic manipulation, connective tissue disorder, or previous headache who developed a mild, unilateral headache 7 days after the uneventful delivery of her third child (no general or neuraxial anesthesia was delivered). Seven days latter she presented to our emergency department complaining of recurrent episodes of right-sided headache coupled with a transient episode of sensory deficits in her left lower limb. Brain magnetic resonance imaging disclosed small infarctions in the internal watershed distribution of right internal carotid artery (ICA). Carotid artery dissection was diagnosed using DSA and T1 FAT-SAT sequences for the depiction of intramural hematoma. The patient was placed under oral anticoagulation and remained asymptomatic during a follow-up period of 6 months. The present case report highlights that cervicocephalic artery dissection is a condition that should be looked for in women with persisting or remitting unilateral headache following childbirth. PMID:19453826
Obstructive sleep apnea syndrome caused by uncommon tumors of the upper aerodigestive tract
Zhu, Shao-Jun; Wang, Qin-Ying; Zhou, Shui-Hong; Bao, Yang-Yang; Wang, Shen-Qing
Obstructive sleep apnea syndrome (OSAS) is always caused by anatomic abnormalities, including nasal cavity, pharynx, and neuromuscular dysfunctions, leading to airway narrowing. OSAS associated with a mass in the aerodigestive tract is rare. In the present study, we report OSAS caused by 9 cases of preoperative uncommon tumors in the aerodigestive tract. Two tumors in the parapharyngeal space were pleomorphic adenoma, one oropharyngeal tumor was mucoepidermoid carcinoma, one tumor in the right tonsil was schwannoma, and five tumors were non-Hodgkin's lymphoma (NHL). Of the five NHL cases, one in the nasopharynx was diffuse large B-cell lymphoma, two were mantle cell lymphoma, one was chronic lymphocytic leukemia/small lymphocytic lymphoma, and one was NHL. Tumors in the aerodigestive tract should be considered in the differential diagnosis of OSAS upon exacerbation of snoring or sudden gasping. Further examinations should be performed, including a routine workup (computed tomography (CT) and magnetic resonance imaging) and positron emission tomography/CT. PMID:25400748
Uncommon formation of two antiparallel sperm bundles per cyst in tenebrionid beetles (Coleoptera)
NASA Astrophysics Data System (ADS)
Dias, Glenda; Yotoko, Karla S. C.; Gomes, Luiz F.; Lino-Neto, José
Several species of Tenebrionidae are stored-grain pests. Since they belong to a specious family, the systematics of these beetles is still in doubt. In insects, spermatogenesis and the spermatozoa exhibit great diversity, and are therefore commonly used in phylogenetic and taxonomic analyses. During the spermatogenetic process in these organisms, the cells originating from a single spermatogonium develop synchronically in groups referred to as cysts. At the end of this process, there is usually only one sperm bundle per cyst, with all the cells in the same orientation. This paper details the spermiogenesis of the tenebrionid beetles Tenebrio molitor, Zophobas confusa, Tribolium castaneum and Palembus dermestoides using whole mount and histological sections of the cysts. In these species, spermatogenesis is similar to that which occurs in most insects. However, during spermiogenesis, the nuclei of the spermatids migrate to two opposite regions at the periphery of the cyst, leading to the uncommon formation of two bundles of spermatozoa per cyst. This feature is possibly an apomorphy for Tenebrionidae.
[Spontaneous intrauterine rupture of the umbilical cord is very uncommon but a serious condition].
Ĺmark, Hanna; Eneroth, Eva
Spontaneous intrauterine rupture of the umbilical cord is an uncommon and dangerous complication during delivery. We describe a case of a 27-year-old woman with a normal pregnancy. When the membranes broke, the fetal heart sounds suddenly disappeared, and the vaginal bleeding was heavier than normal. An emergency caesarean section was executed and the examination of the placenta revealed a broken umbilical artery. The child was born with an Apgar score of 0,1,1 and a blood gas analysis from the umbilical vein showed pH 6.68 and Base Excess -24.3. Urgent treatment with heart massage, adrenaline, blood transfusion and tribonate was initiated and followed by therapeutic hypothermia. The child was discharged after 10 days with no pathological findings on a MRI examination of the brain. The 6 month follow-up showed a normal development. When a fetal bleeding is suspected, it is important to inform a neonatologist so that correct treatment can be started as early as possible. PMID:25584580
Situs inversus totalis and abdominal aortic aneurysm: Surgical repair of an extremely uncommon association
Riera Hernández, Claudia; Pérez Ramírez, P.; Esteban Gracia, C.; Jiménez Olivera, M.A.; Llagostera Pujol, S.
Introduction Situs inversus totalis (SIT) is an uncommon congenital syndrome, which refers to a reversal mirror-image of the normal thoracoabdominal organs position. The coexistence of SIT and abdominal aortic aneurysm has been seldom previously reported. Presentation of the case We report a case of a 69-year-old man with SIT and infrarenal abdominal aortic aneurysm (AAA) that underwent open repair with a straight graft through a minilaparatomy without evisceration. Discussion There is no consensus on which should be the optimum approach in cases of open surgical repair of AAA due to the limited number of cases described. The fact of intestinal scrolling to the left abdomen, unlike usual, is due to the anatomical arrangement of the root of the mesentery which is directed obliquely from duodenojejunal on the left side of the vertebra L2 to the ileocecal junction and right sacroiliac joint. Conclusion A minilaparotomy without evisceration and with intestinal scrolling to left hemiabdomen, can be very useful and beneficial on those cases of congenital anatomical abnormalities that may add difficulty during the surgical procedure. PMID:25884612
Unusual Presentation of Uncommon Disease: Anorexia Nervosa Presenting as Wernicke-Korsakoff Syndrome—A Case Report from Southeast Asia
Mushtaq, Raheel; Shah, Tabindah; Bhat, Mudasir; Mushtaq, Sahil
Anorexia nervosa presenting as Wernicke-Korsakoff syndrome is rare. The causes of Wernicke-Korsakoff syndrome are multiple like alcohol abuse, thyrotoxicosis, haemodialysis, severe malnutrition because of gastric carcinoma and pyloric obstruction, hyperemesis gravidarum, and prolonged parenteral feeding. We report a case of anorexia nervosa, who presented with Wernicke's encephalopathy and progressed to Korsakoff's syndrome. Knowledge, awareness, and early intervention of anorexia nervosa by mental health professionals can prevent development of Wernicke-Korsakoff syndrome. PMID:24963430
Green Herring Syndrome: Bacterial Infection in Patients With Mucormycosis Cavitary Lung Disease
Peixoto, Driele; Hammond, Sarah P.; Issa, Nicolas C.; Madan, Rachna; Gill, Ritu R.; Milner, Danny A.; Colson, Yolonda L.; Koo, Sophia; Baden, Lindsey R.; Marty, Francisco M.
Mucormycosis is a life-threatening fungal disease in patients with hematological malignancies. The diagnosis of pulmonary mucormycosis is particularly challenging. We describe 3 mucormycosis cases with an uncommon presentation in patients whose cavitary lung disease was attributed to well documented bacterial infection, although evolution and reassessment established mucormycosis as the underlying disease. PMID:25734087
Bilateral adrenal infarction in Crohn's disease
Khandelwal, Ashish; Krishna, J. Sateesh; Khandelwal, Kanika; Virmani, Vivek; Ryan, John
Adrenal infarction is an uncommon cause of adrenal insufficiency. We herein present unique occurrence of bilateral adrenal infarction detected on imaging in a young female with known history of Crohn's disease. The patient responded well to steroids and is on follow up. To our knowledge, this is the first case reported in English literature of adrenal infarct associated with Crohn's disease as extraintestinal manifestation. PMID:24083186
Ten uncommon and unusual variants of renal angiomyolipoma (AML): radiologic-pathologic correlation.
Schieda, N; Kielar, A Z; Al Dandan, O; McInnes, M D F; Flood, T A
Classic (triphasic) renal angiomyolipoma (AML) is currently classified as a neoplasm of perivascular epithelioid cells. For diagnosis of AML, the use of thin-section non-contrast enhanced CT (NECT) improves diagnostic accuracy; however, identifying gross fat within a very small AML is challenging and often better performed with chemical-shift MRI. Although the presence of gross intra-tumoural fat is essentially diagnostic of AML; co-existing intra-tumoural fat and calcification may represent renal cell carcinoma (RCC). Differentiating AML from retroperitoneal sarcoma can be difficult when AML is large; the feeding vessel and claw signs are suggestive imaging findings. AML can haemorrhage, with intra-tumoural aneurysm size >5 mm a more specific predictor of future haemorrhage than tumor size >4 cm. Diagnosis of AML in the setting of acute haemorrhage is complex; comparison studies or follow-up imaging may be required. Not all AML contain gross fat and imaging features of AML without visible fat overlap with RCC; however, homogeneity, hyperdensity at NECT, low T2-weighted signal intensity and, microscopic fat are suggestive features. Patients with tuberous sclerosis often demonstrate a combination of classic and minimal fat AML, but are also at a slightly increased risk for RCC and should be imaged cautiously. Several rare pathological variants of AML exist including AML with epithelial cysts and epithelioid AML, which have distinct imaging characteristics. Classic AML, although benign, can be locally invasive and the rare epithelioid AML can be frankly malignant. The purpose of this review is to highlight the imaging manifestations of 10 uncommon and unusual variants of AML using pathological correlation. PMID:25468637
Selective common and uncommon imaging manifestations of blunt nonaortic chest trauma: when time is of the essence.
Altoos, Rola; Carr, Robert; Chung, Jonathan; Stern, Eric; Nevrekar, Dipti
This is a pictorial essay in which we review and illustrate a variety of thoracic injuries related to blunt trauma. Non-aortic blunt thoracic trauma can be divided anatomically into injuries of the chest wall, lungs, pleura, mediastinum, and diaphragm. Some injuries involve more than one anatomic compartment, and multiple injuries commonly coexist. This article provides common imaging findings and discussion of both common and uncommon but critical thoracic injuries encountered. PMID:25267393
Fasciola hepatica (Trematoda: Digenea): its effect on the life history traits of Pseudosuccinea columella (Gasteropoda: Lymnaeidae), an uncommon interaction
Alfredo Gutiérrez; Mary Yong; Gloria Perera; Jorge Sánchez; André Théron
An uncommon snail-trematode interaction pattern was found for the Pseudosuccinea columella - Fasciola hepatica model under laboratory conditions. Week-old juveniles from two isolates showed very high rates of infection (90.0% and 93.3%) after exposure to five miracidia. They also showed differences in their life history traits when compared to a control group. However, they did not exhibit the increase in
[Lay further emphasis on the cosmetic repair of deep burn wounds in extraordinary regions or caused by uncommon agents].
Liu, Yi
Along with the vigorous development of medical science and other related subjects, a lot of new techniques, concepts, materials, and methods continuously sprung up. The techniques of plastic and cosmetic surgery have already been used to repair burn wound at the early stage, especially to those wounds in extraordinary regions or caused by uncommon agents. These advances made burn wound treatment change from simply covering wound to save the patient's life to repairing wound and reconstructing function at the same time, which might achieve the aim of cosmetic repair in the future. Because of the hard work of burn surgeons, some progresses on the cosmetic repair of deep burn wounds in extraordinary regions or caused by uncommon agents have been achieved, but there is still a long way to go for the aim of cosmetic repair. Clinical practice has proved that as long as the basic principles of cosmetic repair are followed, the techniques and methods of plastic and cosmetic surgery are employed correctly, and the role of burn rehabilitation is highly emphasized, it is practicable to achieve cosmetic repair of deep burn wounds in extraordinary regions or caused by uncommon agents. PMID:25572886
An uncommon type of adrenal incidentaloma: a case report of a schwannoma of the adrenal medulla with cytological, histological, and ultrastructural correlation.
Jakowski, Joseph D; Wakely, Paul E; Jimenez, Rafael E
Benign nerve sheath tumors of the adrenal gland are an extremely uncommon cause of an incidentaloma. We report a case of a schwannoma of the adrenal medulla in an asymptomatic 51-year-old woman, which was discovered incidentally on a computed tomography scan after routine workup for her degenerative joint diseases of the lumbar spine. Because of the large size and unknown biologic nature of the tumor by clinical and radiographic studies alone, an adrenalectomy was performed. The gross specimen featured a well-circumscribed medullary based tumor with cystic degeneration. The diagnosis of a nerve sheath tumor was based on classic histological findings, supported by S-100 positivity, and ultrastructurally by the finding of typical Schwann cells. The cytological diagnosis from the fine-needle aspiration biopsy material obtained at the time of gross examination was much more challenging on retrospective review. The aspirated material showed a round- to oval-cell predominant smear with occasional striking anisonucleosis, intranuclear inclusions (so-called ancient change), and pigment deposition. A review of the histogenesis and differential diagnosis of this common nerve sheath tumor in this unusual location is discussed. PMID:18774499
The spectrum of orofacial manifestations in renal osteodystrophy: diagnostic challenges of an uncommon presentation.
Fatahzadeh, Mahnaz
Renal osteodystrophy refers to a spectrum of bone diseases caused by pathologic alterations in the metabolism of calcium, phosphate, and bone in the context of end-stage renal disease and secondary hyperparathyroidism. Radiographic alterations affecting the jaw and facial skeleton are common and among the earliest signs of renal bone disease. Renal osteodystrophy also shares clinical, histologic, and radiologic similarities with several benign fibro-osseous conditions affecting the craniofacial region, and its recognition is critical to prevention, choice of therapy, and overall prognosis. The aim of this article is to review the craniofacial manifestations of renal osteodystrophy, describe the work-up of a patient with macrognathia and facial disfigurement caused by renal bone disease, discuss the challenges in arriving at a definitive diagnosis, and highlight an interdisciplinary approach to evaluation and timely diagnosis in overall management. PMID:21716979
Cardiomyopathy Associated with Celiac Disease in Childhood
Boskovic, Aleksandra; Kitic, Ivana; Prokic, Dragan; Stankovic, Ivica
Celiac disease is predominantly a disease of the small intestine characterized by chronic malabsorption in genetically susceptible individuals who ingest grains containing gluten, such as wheat, barley, and rye. Although previously believed to be uncommon, celiac disease may be present in up to 1% of the adult and children population. Celiac disease is associated frequently with iron-deficiency anemia, dermatitis herpetiformis, selective IgA deficiency, thyroid disorders, diabetes mellitus, and various connective tissue disorders but is rarely associated with cardiomyopathy. PMID:23094165
Combined Autoimmune Disease in a Patient with AIDS
G. Zandman-Goddard; E. Peeva; P. Barland
: Immune dysregulation in HIV-infected patients, along with the new medications for treatment of AIDS that possess immunomodulating\\u000a potential, may lead to an increased incidence of autoimmune diseases in this patient population. However, the presence of\\u000a combined autoimmune diseases in an AIDS patient is rare. Relapsing polychondritis (RP) is an uncommon inflammatory disease\\u000a manifested by recurrent attacks of auricular chondritis.
Vitamin B 12 deficiency in untreated celiac disease
Anna Dahele; Subrata Ghosh
OBJECTIVES:Iron and folate malabsorption are common in untreated celiac disease as the proximal small intestine is predominantly affected. Vitamin B12 deficiency is thought to be uncommon, as the terminal ileum is relatively spared. This study aims to investigate the prevalence of vitamin B12 deficiency in patients with untreated celiac disease.METHODS:Prospective study of 39 consecutive biopsy-proven celiac disease patients (32 women,
Vitamin B12 deficiency in untreated celiac disease
Anna Dahele; Subrata Ghosh
OBJECTIVES:Iron and folate malabsorption are common in untreated celiac disease as the proximal small intestine is predominantly affected. Vitamin B12 deficiency is thought to be uncommon, as the terminal ileum is relatively spared. This study aims to investigate the prevalence of vitamin B12 deficiency in patients with untreated celiac disease.METHODS:Prospective study of 39 consecutive biopsy-proven celiac disease patients (32 women,
Examination of disease severity in systemic vasculitis from the novel perspective of damage using the vasculitis damage index (VDI)
SUMMARY Assessment of disease severity in systemic vasculitis encompasses mortality, which is now uncommon, and morbidity, which is increasing in significance. Morbidity includes permanent scars or damage, an evolving concept oÄering a novel perspective which may be particularly valuable in chronic disease. We have developed a method for assessing damage in systemic vasculitis, but the relationship between damage and disease
Ryu, Jay H; Tian, Xinlun; Baqir, Misbah; Xu, Kaifeng
Diffuse cystic lung diseases are uncommon but can present a diagnostic challenge because increasing number of diseases have been associated with this presentation. Cyst in the lung is defined as a round parenchymal lucency with a well-defined thin wall (< 2 mm thickness). Focal or multifocal cystic lesions include blebs, bullae, pneumatoceles, congenital cystic lesions, traumatic lesions, and several infectious processes such as coccidioidomycosis, Pneumocystis jiroveci pneumonia, and hydatid disease. "Diffuse" distribution in the lung implies involvement of all lobes. Diffuse lung involvement with cystic lesions can be seen in pulmonary lymphangioleiomyomatosis, pulmonary Langerhans' cell histiocytosis, lymphoid interstitial pneumonia, Birt-Hogg-Dubé syndrome, amyloidosis, light chain deposition disease, honeycomb lung associated with advanced fibrosis, and several other rare causes including metastatic disease. High-resolution computed tomography of the chest helps define morphologic features of the lung lesions as well as their distribution and associated features such as intrathoracic lymphadenopathy. Correlating the tempo of the disease process and clinical context with chest imaging findings serve as important clues to defining the underlying nature of the cystic lung disease and guide diagnostic evaluation as well as management. PMID:23666611
Ng, Aaron W; Teoh, Stephen C
Dengue fever, a viral disease epidemic in some parts of the world, is of considerable international concern, with a growing incidence owing to developing urbanization, tourism, and trade. Ocular manifestations of dengue fever are uncommon, but of great significance. Proposed mechanisms include direct viral infection as well as immunologic phenomena. Common manifestations include subconjunctival, vitreous, and retinal hemorrhages; posterior uveitis; optic neuritis; and maculopathies such as foveolitis, hemorrhage, and edema. Main symptoms include blurring of vision, scotomata, metamorphopsia, and floaters. Diagnostic and monitoring investigations described included optical coherence tomography, fundus fluorescein and indocyanine green angiography, visual field analysis, and electrophysiologic tests. Management is based on clinical presentation and includes active surveillance as well as various anti-inflammatory and immunosuppressive therapies. There have been no prospective, randomized therapeutic trials, and it is unclear if the disease is self-limiting or if treatment is actually beneficial. Prognosis varies, ranging from full resolution to permanent vision loss despite intervention. PMID:25223497
Encephalitis in cat scratch disease with persistent dementia.
Revol, A; Vighetto, A; Jouvet, A; Aimard, G; Trillet, M
Encephalitis in cat scratch disease is uncommon and usually reversible. The patient with cognitive impairment and severe memory disorder did not improve after a 30 month follow up. MRI revealed disseminated lesions in the white matter of the cerebral hemispheres. Images PMID:1538219
Changes in Semantic Memory in Early Stage Alzheimer's Disease Patients.
ERIC Educational Resources Information Center
Weingartner, Herbert J.; And Others
Contrasts changes in semantic memory in elderly normal controls and Alzheimer's disease (AD) patients before patients expressed symptoms. Found that controls generated more uncommon exemplars from closed semantic categories (fruits and vegetables) than did AD patients prior to presumed onset of AD. AD patients were just as productive as controls…
Bilateral retiform variant of sertoli leydig cell tumour of ovary: An uncommon tumor with review of literature.
Rathi, Monika; Budania, Satish Kumar; Khalid, Mohammad; Mittal, Ankur
Sertoli-leydig cell tumors are the uncommon sex-cord stromal tumors of the ovary. We report a case of 42-year-old female with retiform variant of sertoli-leydig cell tumour. She presented with the complaint of mass in abdomen for 7 years. Ultrasound revealed bilateral ovarian mass suggestive of malignancy. Bilateral salpingo-oopherectomy with surgical staging was done. The tumor was diagnosed as stage I retiform variant of sertoli-leydig cell tumor on histopathology and immunohistochemistry. PMID:25861207
Bilateral retiform variant of sertoli leydig cell tumour of ovary: An uncommon tumor with review of literature
Rathi, Monika; Budania, Satish Kumar; Khalid, Mohammad; Mittal, Ankur
Sertoli-leydig cell tumors are the uncommon sex-cord stromal tumors of the ovary. We report a case of 42-year-old female with retiform variant of sertoli-leydig cell tumour. She presented with the complaint of mass in abdomen for 7 years. Ultrasound revealed bilateral ovarian mass suggestive of malignancy. Bilateral salpingo-oopherectomy with surgical staging was done. The tumor was diagnosed as stage I retiform variant of sertoli-leydig cell tumor on histopathology and immunohistochemistry. PMID:25861207
An experimental and theoretical study to relate uncommon rock/fluid properties to oil recovery. Final report
Watson, R.
Waterflooding is the most commonly used secondary oil recovery technique. One of the requirements for understanding waterflood performance is a good knowledge of the basic properties of the reservoir rocks. This study is aimed at correlating rock-pore characteristics to oil recovery from various reservoir rock types and incorporating these properties into empirical models for Predicting oil recovery. For that reason, this report deals with the analyses and interpretation of experimental data collected from core floods and correlated against measurements of absolute permeability, porosity. wettability index, mercury porosimetry properties and irreducible water saturation. The results of the radial-core the radial-core and linear-core flow investigations and the other associated experimental analyses are presented and incorporated into empirical models to improve the predictions of oil recovery resulting from waterflooding, for sandstone and limestone reservoirs. For the radial-core case, the standardized regression model selected, based on a subset of the variables, predicted oil recovery by waterflooding with a standard deviation of 7%. For the linear-core case, separate models are developed using common, uncommon and combination of both types of rock properties. It was observed that residual oil saturation and oil recovery are better predicted with the inclusion of both common and uncommon rock/fluid properties into the predictive models.
Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings
Valdes-Flores, Margarita; Hidalgo-Bravo, Alberto; Casas-Avila, L; Chima-Galan, Carmen; Hazan-Lasri, Eric J; Pineda-Gomez, Ernesto; Lopez-Estrada, Druso; Zenteno, Juan C
Pyknodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, deformity of the skull, osteosclerosis, hypoplasia of the clavicle, and bone fragility. Radiographs show increased bone density, osteosclerosis, and acroosteolysis of the terminal phalanges. The pycnodysostosis gene is located on chromosome 1q21 and encodes an enzyme called Cathepsin K. Cathepsin K is a cysteine protease lysosomal protein associated with the degradation of bone and cartilage. In the current study, the authors described the clinical, radiological and molecular features of a group of six Mexican patients, including two familial and two sporadic cases, with Pyknodysostosis. One of the patients presented hypoacusia, an unusual finding in this disease. PMID:25550899
Crohn's disease presenting as gastric outlet obstruction
Scheck, Simon M.; Ram, Rishi; Loveday, Benjamin; Bhagvan, Savitha; Beban, Grant
We present a unique presentation of Crohn's disease in a 25-year-old male with a 3-month history of progressive gastric outlet obstruction symptoms including reflux, vomiting, postprandial pain and weight loss, with no other symptoms. Multiple imaging investigations as well as gastroscopic biopsies revealed a non-specific prepyloric lesion, without evidence of malignancy. A distal gastrectomy was performed. Subsequent histological evaluation revealed gastroduodenal Crohn's disease. Follow-up revealed no evidence of disease elsewhere in the gastrointestinal system or systemically. While it is not uncommon for Crohn's disease to involve the stomach and duodenum, it is rare for gastroduodenal disease to be the initial presentation. Isolated gastroduodenal Crohn's disease typically presents with non-specific gastritis-like symptoms over a number of years. This patient had a unique course of Crohn's disease with rapid onset of symptoms, predominantly relating to gastric outlet obstruction and no prior or subsequent history of gastrointestinal symptoms. PMID:25477016
An unusual cause of pancytopenia: Whipple's disease
Tun, Nay T.; Shukla, Shwetanshu; Krishnakurup, Jaykrishnan; Pappachen, Binu; Krishnamurthy, Mahesh; Salib, Hayman
Whipple's disease is a systemic infectious disease caused by the bacteria Tropheryma whipplei. The most common clinical manifestations of Whipple's disease are weight loss (92%), hypoalbuminemia and steatorrhea (91%, respectively), diarrhea (72%), arthralgia (67%), and abdominal pain (55%). Neurological signs and symptoms from dementia to oculomasticatory myorhythmia or oculofacioskeletal myorhythmia (pathognomonic of Whipple's disease), lymphadenopathy, and fatigue can also be present. Pancytopenia is a rare and less recognized clinical feature in Whipple's disease patients. We are describing a case where a middle-aged Caucasian male diagnosed with Whipple's disease was found to have pancytopenia. Etiology of pancytopenia is postulated to be due to the invasion of bone marrow by T. whipplei. It is important to recognize that bone marrow involvement by the Whipple bacillus is not uncommon. In the presence of lymphadenopathy and pancytopenia, clinicians should think of Whipple's disease as a differential diagnosis apart from lymphoma or other non-specific granulomatous reticuloendothelial disorders. PMID:24765256
Three Cases of Lichen Nitidus Associated with Various Cutaneous Diseases
Cho, Eun Byul; Kim, Heung Yeol; Park, Eun Joo; Kwon, In Ho; Kim, Kwang Joong
Lichen nitidus (LN) is an uncommon, usually asymptomatic cutaneous eruption characterized by the presence of multiple, small, flesh-colored papules. The epidemiologic and pathophysiologic characteristics of LN have not yet been defined. Furthermore, LN has rarely been described in association with other cutaneous diseases. We herein report 3 cases of LN associated with various cutaneous diseases, including lichen striatus, oral lichen planus, and psoriasis vulgaris. PMID:25143682
Endoscopic Surgery with Powered Instrumentation for Isolated Sphenoid Sinus Disease
Hongmeng Yu; Huawei Li; Fanglu Chi; Chunfu Dai; Chonghua Zhang; Zhengmin Wang
Objective: Isolated sphenoid sinus disease (ISSD) is a relatively uncommon disease. In this study, we investigate the diagnosis and pathology of ISSD and compare endoscopic treatment with powered instrumentation with conventional surgical instruments for ISSD. Methods: Ninety-six out of 2,263 patients who underwent endoscopic surgery were diagnosed with ISSD by nasal endoscopy and computed tomography scan. Ninety-six cases of confirmed
Three cases of lichen nitidus associated with various cutaneous diseases.
Cho, Eun Byul; Kim, Heung Yeol; Park, Eun Joo; Kwon, In Ho; Kim, Kwang Ho; Kim, Kwang Joong
Lichen nitidus (LN) is an uncommon, usually asymptomatic cutaneous eruption characterized by the presence of multiple, small, flesh-colored papules. The epidemiologic and pathophysiologic characteristics of LN have not yet been defined. Furthermore, LN has rarely been described in association with other cutaneous diseases. We herein report 3 cases of LN associated with various cutaneous diseases, including lichen striatus, oral lichen planus, and psoriasis vulgaris. PMID:25143682
Lhermitte-Duclos disease associated with Cowden syndrome
Tze-Ching Tan; Luen-Cheung Ho
Lhermitte-Duclos disease or dysplastic gangliocytoma of the cerebellum, is a rare cerebellar lesion, which can cause mass effects in the posterior fossa. It may occur sporadically, or in association with Cowden syndrome. Cowden syndrome or multiple hamartoma-neoplasia syndrome, is an uncommon autosomal dominant condition characterized by mucocutaneous lesions and systemic malignancies. We report two patients with Lhermitte-Duclos disease and associated
Uncommon but serious complications associated with electroconvulsive therapy: recognition and management for the clinician.
Cristancho, Mario A; Alici, Yesne; Augoustides, John G; O'Reardon, John P
Electroconvulsive therapy (ECT) is a safe and effective treatment for severe mood disorders. Rarely there can be serious complications, such as postictal agitation, cardiovascular compromise, prolonged seizures, and status epilepticus, all of which are important for the clinician to recognize and treat. Postictal agitation can be severe, requiring emergent intervention and subsequent prophylactic measures to avoid premature ECT discontinuation. Cardiovascular responses to ECT include significant hemodynamic changes that may result in complications, even in patients without preexisting cardiovascular conditions. However, preexisting cardiovascular conditions per se are not contraindications to ECT in patients with disabling psychiatric disease. Recognizing and treating prolonged seizures is essential to prevent progression to status epilepticus. Failure to recognize and treat any of these events may result in increased mortality and morbidity. Understanding such complications and their management strategies avoids unnecessary treatment discontinuation due to manageable ECT complications. PMID:18980730
[Dercum's disease: a severe complication in a rare disease. A case report].
Haddad, D; Athmani, B; Costa, A; Cartier, S
Dercum's disease or adiposis dolorasa is unusual and unknown. Four symptoms are typical. It is characterized by painful subcutaneous fatty tumors in postmenopausal woman. We present this disease through the study of an uncommon clinical case: a sceptic choc following the "steato-cutaneous-necrosis" of a fatty tumor. The disease remains rare. The etiology is to this day unknown and different hypothesis (endocrinous, metabolic, genetics) are put forward. Multiple complications can occur but severe septicemia is rare. The treatment can be medical (loss of weight, corticoids, intravenous lidocaine) or surgical (surgical excision or liposuction). PMID:15963847
Biliary fascioliasis – an uncommon cause of recurrent biliary colics: Report of a case and brief review
Al Qurashi, Hesham; Masoodi, Ibrahim; Al Sofiyani, Mohammad; Al Musharaf, Hisham; Shaqhan, Mohammed; All, Gamal Nasr Ahmed Abdel
Biliary parasitosis is one of the important causes of biliary obstruction in endemic areas, however due to migration and travel the disease is known to occur in non endemic zones as well. The spectrum of biliary fascioliasis ranges from recurrent biliary colics to acute cholangitis. The long term complications are gall stones, sclerosing cholangitis and biliary cirrhosis. We describe fascioliasis as a cause of recurrent biliary colics in a young male necessitating multiple hospitalizations over a period of four years. Investigative profile had been non-contributory every time he was hospitalized for his abdominal pain prior to the current presentation. He never had cholangitis due to the worm in the common bile duct. It was only at endoscopic retrograde cholangiopancreatography (ERCP) biliary fascioliasis was discovered to be the cause of his recurrent biliary colics. After removal of the live Fasciola hepatica from the common bile duct he became symptom free and is attending our clinic for last 11 months now. Clinical spectrum of biliary fascioliasis is discussed in this report. PMID:22566787
Spontaneous spleen rupture in a teenager: an uncommon cause of acute abdomen.
Maria, Verroiotou; Saad, Al Mogrampi; Fardellas, Ioannis
Spontaneous spleen rupture is a rare complication of infectious diseases and it can become a potentially life-threatening condition if not diagnosed in time. A 17-year-old Greek female presented to the ER due to acute abdominal pain, mainly of the left upper quadrant. She had no recent report of trauma. The patient was pale, her blood pressure was 90/70?mmHg, and her pulse was 120?b/min. Clinical examination of the abdomen revealed muscle contraction and resistance. The patient was submitted to an ultrasound of the upper abdomen and to a CT scanning of the abdomen that revealed an extended intraperitoneal hemorrhage due to spleen rupture. Due to the patient's hemodynamic instability, she was taken to the operation room and splenectomy was performed. Following a series of laboratory examinations, the patient was diagnosed to be positive for current cytomegalovirus infection. The postoperative course was uneventful, and in a two year follow-up the patient is symptom-free. Spontaneous spleen rupture due to Cytomegalovirus infection is a rare clinical entity, described in few case reports in the world literature and should always be taken into consideration in differential diagnosis of acute abdomen, especially in adolescents with no recent report of trauma. PMID:23710190
Immunologically mediated oral diseases.
Jimson, Sudha; Balachader, N; Anita, N; Babu, R
Immune mediated diseases of oral cavity are uncommon. The lesions may be self-limiting and undergo remission spontaneously. Among the immune mediated oral lesions the most important are lichen planus, pemphigus, erythema multiformi, epidermolysis bullosa, systemic lupus erythematosis. Cellular and humoral mediated immunity play a major role directed against epithelial and connective tissue in chronic and recurrent patterns. Confirmatory diagnosis can be made by biopsy, direct and indirect immunoflouresence, immune precipitation and immunoblotting. Therapeutic agents should be selected after thorough evaluation of immune status through a variety of tests and after determining any aggravating or provoking factors. Early and appropriate diagnosis is important for proper treatment planning contributing to better prognosis and better quality of life of patient. PMID:26015713
Ovarian Seromucinous Carcinoma: Report of a Series of a Newly Categorized and Uncommon Neoplasm.
Taylor, Jennifer; McCluggage, W Glenn
Seromucinous neoplasms are a new category of ovarian epithelial tumor in the revised World Health Organization Classification of Tumours of the Female Reproductive Organs. Borderline variants are well described, but there have been few reports of seromucinous carcinomas. We report the clinicopathologic features in 19 cases of ovarian seromucinous carcinoma in patients aged 16 to 79 years (mean 47). In 16 cases, the neoplasm was unilateral and in 3 cases bilateral. The tumors ranged in size from 1.8 to 18 cm (mean 10.5 cm). The tumors were stage I (n=15), stage II (n=1), and stage III (n=3). The histologic features were highly variable both within and between individual tumors. The majority of neoplasms (12 cases) exhibited a predominant papillary architecture with lesser components of glandular, microglandular, and solid growth. A predominant glandular architecture was present in 6 cases, whereas 1 had a predominantly solid growth. A characteristic feature was an admixture of cell types. Most of the tumors (15 cases) were mainly composed of endocervical-like mucinous cells, whereas in 4 cases there was predominant endometrioid differentiation. Other cell types, present in varying proportions, included hobnail cells, eosinophilic cells, squamous cells, clear cells, and signet-ring cells. An infiltrate of neutrophil polymorphs was a prominent feature in most cases. Most cases also exhibited areas of microglandular architecture with cytoplasmic clearing and intraluminal polymorphs, the features closely resembling cervical microglandular hyperplasia. Areas of stromal hyalinization, adenofibromatous growth, and psammoma bodies were present in a minority of cases. Endometriosis was identified in the same ovary in 10 cases, and in 10 there was a component of seromucinous borderline tumor. Thirteen, 5, and 1 tumor were of grades 1, 2, and 3, respectively (using the FIGO grading system for endometrioid adenocarcinomas of the uterine corpus). A synchronous uterine endometrioid adenocarcinoma was present in 1 case. Immunohistochemically, there was positive staining with CK7 (17/17 cases), estrogen receptor (16/16 cases), progesterone receptor (6/7 cases), CA125 (15/15 cases), PAX8 (8/8 cases), CEA (8/13 cases), CA19.9 (8/9 cases), and WT1 (2/13 cases). CK20 and CDX2 were negative in all cases tested (16 and 14, respectively). p53 showed "wild-type" staining in 4/4 cases, and p16 was focally positive in 5/5 cases. Follow-up information was available in 8 patients. Seven were alive with no evidence of disease (follow-up 3 to 74 mo), whereas 1 patient who initially presented with a stage IIB tumor died of disease at 192 months. Given the characteristic admixture of cell types and the overlapping morphologic features with low-grade serous, mucinous, and endometrioid neoplasms, the most appropriate categorization of seromucinous carcinomas is uncertain, but we believe they are best regarded as a distinct type of ovarian epithelial malignancy and are most similar to endometrioid adenocarcinomas. We recommend grading them in an analogous manner to ovarian endometrioid adenocarcinomas. PMID:25723110
Sexually transmitted diseases in children in India.
Dhawan, Jyoti; Gupta, Somesh; Kumar, Bhushan
Sexually transmitted diseases (STDs) in children are not uncommon in India, though systematic epidemiological studies to determine the exact prevalence are not available. STDs in children can be acquired via sexual route or, uncommonly, via non-sexual route such as accidental inoculation by a diseased individual. Neonatal infections are almost always acquired intrauterine or during delivery. Voluntary indulgence in sexual activity is also an important factor in acquisition of STDs in childhood. Sexual abuse and sex trafficking remain the important problems in India. Surveys indicate that nearly half of the children are sexually abused. Most at risk children are street-based, homeless or those living in or near brothels. Last two decades have shown an increase in the prevalence of STDs in children, though most of the data is from northern part of the country and from major hospitals. However, due to better availability of antenatal care to majority of women, cases of congenital syphilis have declined consistently over the past two-three decades. Other bacterial STDs are also on decline. On the other hand, viral STDs such as genital herpes and anogenital warts are increasing. This reflects trends of STDs in the adult population. Concomitant HIV infection is uncommon in children. Comprehensive sex education, stringent laws to prevent sex trafficking and child sexual abuse, and antenatal screening of all the women can reduce the prevalence of STDs in children. PMID:20826987
Salivary gland diseases in children
Iro, Heinrich; Zenk, Johannes
Salivary gland diseases in children are rare, apart from viral-induced diseases. Nevertheless, it is essential for the otolaryngologist to recognize these uncommon findings in children and adolescents and to diagnose and initiate the proper treatment. The present work provides an overview of the entire spectrum of congenital and acquired diseases of the salivary glands in childhood and adolescence. The current literature was reviewed and the results discussed and summarized. Besides congenital diseases of the salivary glands in children, the main etiologies of viral and bacterial infections, autoimmune diseases and tumors of the salivary glands were considered. In addition to the known facts, new developments in diagnostics, imaging and therapy, including sialendoscopy in obstructive diseases and chronic recurrent juvenile sialadenitis were taken into account. In addition, systemic causes of salivary gland swelling and the treatment of sialorrhoea were discussed. Although salivary gland diseases in children are usually included in the pathology of the adult, they differ in their incidence and sometimes in their symptoms. Clinical diagnostics and especially the surgical treatment are influenced by a stringent indications and a less invasive strategy. Due to the rarity of tumors of the salivary glands in children, it is recommended to treat them in a specialized center with greater surgical experience. Altogether the knowledge of the differential diagnoses in salivary gland diseases in children is important for otolaryngologists, to indicate the proper therapeutic approach. PMID:25587366
Nonnasal lymphoma expressing the natural killer cell marker CD56: a clinicopathologic study of 49 cases of an uncommon aggressive neoplasm.
Chan, J K; Sin, V C; Wong, K F; Ng, C S; Tsang, W Y; Chan, C H; Cheung, M M; Lau, W H
Expression of the natural killer (NK) cell antigen CD56 is uncommon among lymphomas, and those that do are almost exclusively of non-B-cell lineage and show a predilection for the nasal and nasopharyngeal region. This study analyzes 49 cases of nonnasal CD56+ lymphomas, the largest series to date, to characterize the clinicopathologic spectrum of these rare neoplasms. All patients were Chinese. Four categories could be delineated. (1) Nasal-type NK/T cell lymphoma (n = 34) patients were adults 21 to 76 years of age (median, 50 years), including 25 men and 9 women. They presented with extranodal disease, usually in multiple sites. The commonest sites of involvement were skin, upper aerodigestive tract, testis, soft tissue, gastrointestinal tract, and spleen. Only 7 cases (21%) apparently had stage I disease. The neoplastic cells were often pleomorphic, with irregular nuclei and granular chromatin, and angiocentric growth was common. The characteristic immunophenotype was CD2+ CD3/Leu4- CD3epsilon+ CD56+, and 32 cases (94%) harbored Epstein-Barr virus (EBV). Follow-up information was available in 29 cases: 24 died at a median of 3.5 months; 3 were alive with relapse at 5 months to 2.5 years; and 2 were alive and well at 3 and 5 years, respectively. (2) Aggressive NK cell leukemia/lymphoma (n = 5) patients presented with hepatomegaly and blood/marrow involvement, sometimes accompanied by splenomegaly or lymphadenopathy. The neoplastic cells often had round nuclei and azurophilic granules in the pale cytoplasm. All cases exhibited an immunophenotype of CD2+ CD3/Leu4- CD56+ CD16- CD57- and all were EBV+. All of these patients died within 6 weeks. (3) In blastoid NK cell lymphoma (n = 2), the lymphoma cells resembled those of lymphoblastic or myeloid leukemia. One case studied for CD2 was negative and both cases were EBV-. One patient was alive with disease at 10 months and one was a recent case. (4) Other specific lymphoma types with CD56 expression (n = 8) included one case each of hepatosplenic gammadelta T-cell lymphoma and S100 protein+ T-cell lymphoproliferative disease and two cases each of T-chronic lymphocytic/prolymphocytic leukemia, lymphoblastic lymphoma, and true histiocytic lymphoma. All of these cases were EBV-. Six patients died at a median of 6.5 months. Nonnasal CD56+ lymphomas are heterogeneous, but all pursue a highly aggressive clinical course. The nasal-type NK/T-cell lymphoma and aggressive NK cell leukemia/lymphoma show distinctive clinicopathologic features and a very strong association with EBV. Blastoid NK cell lymphoma appears to be a different entity and shows no association with EBV. PMID:9192774
Reconstructors: Uncommon Scents - Episode 2. Students learn the health effects of solvent exposure on memory and selective attention, inhalant abuse, and refusal strategies
NSDL National Science Digital Library
Center for Technology in Teaching and Learning
In Uncommon Scents Episode 2, students investigate exposure to toxic chemicals. They will discover that many common household products contain toxic chemicals, and also learn how inhaling these product can severely damage the nervous system and other parts of the body.
Reconstructors: Uncommon Scents - Episode 3. Students learn the health effects of solvent exposure on memory and selective attention, inhalant abuse, and refusal strategies
NSDL National Science Digital Library
Center for Technology in Teaching and Learning
In Uncommon Scents Episode 3, students investigate exposure to toxic chemicals. They will discover that many common household products contain toxic chemicals, and also learn how inhaling these product can severely damage the nervous system and other parts of the body.
Reconstructors: Uncommon Scents - Episode 1. Students learn the health effects of inhalant abuse and exposure to hazardous household products such as organic solvents
NSDL National Science Digital Library
Center for Technology in Teaching and Learning
In Uncommon Scents Episode 1, students investigate a chemical accident and learn about the health effects of exposure to toxic chemicals. They will discover that many common household products contain toxic chemicals, learn how inhaling these product can severely damage the nervous system and other parts of the body, and find ways to protect themselves from exposure to toxic vapors.
A new stereoselective synthesis of sterically constrained uncommon ?,??-dialkylated ?-amino acids. Part 2 1 Ref. 1 is considered to be Part 1. 1
Gianni Porzi; Sergio Sandri
The alkylation of the diastereomeric mixture of the chiral morpholinone derivatives 5 and 6 occurs with good yield and a prevalence of the cis isomer. Cleavage of the alkylated intermediates 7b,c yields enantiomerically pure sterically constrained uncommon ?,??-dialkylated ?-amino acids. The absolute configuration of the new stereocentres has been assigned on the basis of the 1H NMR spectra and NOE
Outbreak of Uncommon O4 Non-Agglutinating Salmonella Typhimurium Linked to Minced Pork, Saxony-Anhalt, Germany, January to April 2013
Helmeke, Carina; Kohlstock, Claudia; Prager, Rita; Tietze, Erhard; Rabsch, Wolfgang; Karagiannis, Ioannis; Werber, Dirk; Frank, Christina; Fruth, Angelika
Introduction In January 2013, the National Reference Centre for Salmonella (NRC) detected a salmonellosis cluster in Saxony-Anhalt, Germany, caused by uncommon O4 non-agglutinating, monophasic Salmonella (S.) Typhimurium DT193. Circulating predominant monophasic S. Typhimurium DT193 clones typically display resistance phenotype ASSuT. We investigated common exposures to control the outbreak, and conducted microbiological investigations to assess the strains' phenotype. Methods We conducted a case-control study defining cases as persons living or working in Saxony-Anhalt diagnosed with the O4 non-agglutinating strain between January and March 2013. We selected two controls contemporarily reported with norovirus infection, frequency-matched on residence and age group, per case. We interviewed regarding food consumption, especially pork and its place of purchase. We calculated odds ratios (ORs) with 95% confidence intervals (95% CI) using logistic regression. The NRC investigated human and food isolates by PCR, SDS-PAGE, MLST, PFGE, MLVA and susceptibility testing. Results Altogether, 68 O4 non-agglutinating human isolates were confirmed between January and April 2013. Of those, 61 were assigned to the outbreak (median age 57 years, 44% female); 83% cases ? 60 years were hospitalized. Eating raw minced pork from butcheries within 3 days was associated with disease (31 cases, 28 controls; OR adjusted for sex: 3.6; 95% CI: 1.0-13). Phage type DT193 and MLST ST34 were assigned, and isolates' lipopolysaccharide (LPS) matched control strains. Isolates linked to Saxony-Anhalt exhibited PFGE type 5. ASSuT- and ACSSuT phenotype proportions were 34 and 39% respectively; 54% were resistant to chloramphenicol. Three pork isolates matched the outbreak strain. Discussion Raw minced pork was the most likely infection vehicle in this first reported outbreak caused by O4 non-agglutinating, mostly chloramphenicol-resistant S. Typhimurium DT193. High hospitalization proportions demand awareness on the risk of consumption of raw pork among elderly. LPS analysis indicated O4 expression; therefore, testing with antisera from different lots is recommendable in unexpected agglutination reactions. PMID:26030424
When dead cells tell tales-cutaneous involvement by precursor T-cell acute lymphoblastic lymphoma with an uncommon phenotype.
Yaar, Ron; Rothman, Karen; Mahalingam, Meera
The thymic type of precursor T-cell acute lymphoblastic lymphoma (pre-T ALL), an uncommon T-cell malignancy, typically presents as a thymic mass and expresses terminal deoxonucleotidyl transferase, CD7, and cytoplasmic CD3, with variable expression of other markers. Cutaneous presentation in pre-T ALL is highly unusual. We describe a case of pre-T ALL presenting as 2 papulonodular lesions on the face of an otherwise asymptomatic 27-year-old man. Microscopic examination of both lesions revealed a moderate to dense pandermal infiltrate of medium-sized lymphocytes with extensive "crush" artifact, whereas immunohistochemistry revealed positive staining of lesional cells for CD45, CD3, Bcl-2, Ki-67, CD5, CD7, and CD34 but negative staining for CD4, CD8, CD30, CD56, CD10, CD117, anaplastic lymphoma kinase protein, TdT, myeloperoxidase, CD79a, and CD20. Gene rearrangement studies performed on both biopsies identified a clonal population of T lymphocytes. A subsequent computed tomography scan revealed a 9-cm mediastinal mass encasing all major mediastinal vessels, whereas a bone marrow biopsy revealed blasts with an immunophenotype similar to that of the cutaneous lesions. Features unique to this case include the cutaneous presentation and the immunophenotype-absence of CD4, CD8, and TdT with expression of CD34-both highly unusual features for pre-T ALL. PMID:20010405
Fasciola hepatica (Trematoda: Digenea): its effect on the life history traits of Pseudosuccinea columella (Gasteropoda: Lymnaeidae), an uncommon interaction.
Gutiérrez, Alfredo; Yong, Mary; Perera, Gloria; Sánchez, Jorge; Théron, André
An uncommon snail-trematode interaction pattern was found for the Pseudosuccinea columella - Fasciola hepaticamodel under laboratory conditions. Week-old juveniles from two isolates showed very high rates of infection (90.0% and 93.3%) after exposure to five miracidia. They also showed differences in their life history traits when compared to a control group. However, they did not exhibit the increase in size and reduction/cessation in host fecundity which is usually observed in most of the other related snail-trematode systems. In contrast, infected juvenile P. columella showed increased egg laying after the onset of cercarial emission and there was no effect on growth. A third isolate of P. columella was found to be refractory to miracidial infection. This constitutes the first report of non-susceptibility to F. hepatica in a lymnaeid species which is usually susceptible. These non-susceptible snails exhibited lower fecundity and survival compared to non-exposed susceptible snails under identical laboratory conditions. The differences observed in terms of life span and reproduction could result from the cost of resistance for individuals from this isolate. PMID:12107475
Clear-Cell Adenocarcinoma of Vesical Origin: A Case Study of Metastatic Disease Treated with Chemotherapy
Pena Álvarez, Carolina; Lorenzo Lorenzo, Isabel; Varela Ferreiro, Silvia; Pardavila Gómez, Rosa; Suh Oh, Hae Jin; Saénz de Miera Rodríguez, Andrea; Covela Rúa, Marta; Carbonell Luyo, Wilver Federico; García Arroyo, Francisco Ramón; López Clemente, Pedro; Palacios Ozores, Patricia; Constenla Figueiras, Manuel
Vesical clear cell adenocarcinoma is an uncommon tumour. The description of nearly all published cases focuses on histological issues, providing few clinical particulars and limited followup. The treatment choice is resection. No publications have been found regarding systemic treatments for advanced disease. We present a case of metastatic clear cell adenocarcinoma of the bladder treated with chemotherapy. PMID:22482051
Management of a giant inguinoscrotal hernia with an ulcerated base in a patient with cardiac disease
Turner, E Jane H; Malhas, Amar; Chisti, Imran; Oke, Tayo
Giant inguinal herniae pose a surgical challenge, though not uncommon in the developing world they are a rare presentation in the UK. We present a patient with cardiac disease who presented with a giant inguino-scrotal hernia complicated by a bleeding scrotal ulcer. We describe his medical management and the surgical repair of the hernia and refashioning of his scrotum. PMID:24946352
Filiform polyposis associated with sigmoid diverticulitis in a patient without inflammatory bowel disease
Hyun-Soo Kim; Kil Yeon Lee; Youn Wha Kim
Filiform polyposis (FP) of the colon is an uncommon entity that is occasionally encountered in patients with inflammatory bowel disease (IBD). FP is morphologically characterized by multiple slender worm-like projections consisting of submucosal cores lined with normal mucosa. To date, only two cases of FP have been reported in patients with inflammatory conditions of the gastrointestinal tract other than ulcerative
A prospective descriptive study of cryptococcal meningitis in HIV uninfected patients in Vietnam - high prevalence of Cryptococcus neoformans var grubii in the absence of underlying disease
Tran TH Chau; Nguyen H Mai; Nguyen H Phu; Ho D Nghia; Ly V Chuong; Dinh X Sinh; Van A Duong; Pham T Diep; James I Campbell; Stephen Baker; Tran T Hien; David G Lalloo; Jeremy J Farrar; Jeremy N Day
BACKGROUND: Most cases of cryptococcal meningitis occur in patients with HIV infection: the course and outcome of disease in the apparently immunocompetent is much more poorly understood. We describe a cohort of HIV uninfected Vietnamese patients with cryptococcal meningitis in whom underlying disease is uncommon, and relate presenting features of patients and the characteristics of the infecting species to outcome.
Subtracting with Uncommon Denominators
NSDL National Science Digital Library
Teachers can use this interactive tool to help students build a conceptual understanding of subtracting fractions with unlike denominators by linking visual models to procedures. Students make use of fractions with a value of one. The page includes a video demonstration of the tool. Free registration is required to use the tool. A paid subscription is necessary to access full curriculum and allow full student use.
Infectious Disease in Ecuador.
Guzman; Jurado; Kron
The republic of Ecuador, which has a population of 10 million, is one of the smallest of the Andean countries in South America. Although it covers only an area of 110,000 square miles, it yields an extraordinary diversity of infectious diseases. Public health problems reflect socioeconomic realities and uniquely diverse climates, cultures, and geography. Equador extends from the Galapagos Islands 600 miles to the west, to inhabited Andean highlands with altitudes over 15,000 feet, and to both the coastal and Amazonian rain forests. Health statistics in Ecuador are widely variable by western standards. Life expectancy is 64-68 years, and infant mortality rates are up to 60 per 1000. The physical and geographic barriers to health care facilities are highly variable in different provinces. This was evidenced dramatically by recent death rates from cholera in 1991-92, which ranged from 0% in Guayaquil to over 50% in isolated highland villages or in the Oriente (eastern provinces). Major cities, provincial borders, and selected topographic features are illustrated in the accompanying map of Ecuador (Fig. 1.) This review reports data on some of the major infectious diseases existent in Ecuador. Emphasis is on the viral, bacterial, protozoal, or helminthic diseases, which are uncommon elsewhere in the world, but which are prevalent, or especially important to public health officials in Ecuador. Table 1 lists reportable disease categories in Ecuador, 1986-1993. Recognition of the diversity of infectious agents endemic to Ecuador may prove useful for diagnosis, treatment, and prevention of infectious diseases in international travelers. PMID:9815368
Lhermitte-Duclos disease associated with Cowden syndrome.
Tan, Tze-Ching; Ho, Luen-Cheung
Lhermitte-Duclos disease or dysplastic gangliocytoma of the cerebellum, is a rare cerebellar lesion, which can cause mass effects in the posterior fossa. It may occur sporadically, or in association with Cowden syndrome. Cowden syndrome or multiple hamartoma-neoplasia syndrome, is an uncommon autosomal dominant condition characterized by mucocutaneous lesions and systemic malignancies. We report two patients with Lhermitte-Duclos disease and associated Cowden syndrome. The clinical, radiological and histopathological features and management strategies of this rare disease complex are discussed. PMID:17485210
Mitogenomes from two uncommon haplogroups mark late glacial/postglacial expansions from the near east and neolithic dispersals within Europe.
Olivieri, Anna; Pala, Maria; Gandini, Francesca; Hooshiar Kashani, Baharak; Perego, Ugo A; Woodward, Scott R; Grugni, Viola; Battaglia, Vincenza; Semino, Ornella; Achilli, Alessandro; Richards, Martin B; Torroni, Antonio
The current human mitochondrial (mtDNA) phylogeny does not equally represent all human populations but is biased in favour of representatives originally from north and central Europe. This especially affects the phylogeny of some uncommon West Eurasian haplogroups, including I and W, whose southern European and Near Eastern components are very poorly represented, suggesting that extensive hidden phylogenetic substructure remains to be uncovered. This study expanded and re-analysed the available datasets of I and W complete mtDNA genomes, reaching a comprehensive 419 mitogenomes, and searched for precise correlations between the ages and geographical distributions of their numerous newly identified subclades with events of human dispersal which contributed to the genetic formation of modern Europeans. Our results showed that haplogroups I (within N1a1b) and W originated in the Near East during the Last Glacial Maximum or pre-warming period (the period of gradual warming between the end of the LGM, ?19 ky ago, and the beginning of the first main warming phase, ?15 ky ago) and, like the much more common haplogroups J and T, may have been involved in Late Glacial expansions starting from the Near East. Thus our data contribute to a better definition of the Late and postglacial re-peopling of Europe, providing further evidence for the scenario that major population expansions started after the Last Glacial Maximum but before Neolithic times, but also evidencing traces of diffusion events in several I and W subclades dating to the European Neolithic and restricted to Europe. PMID:23936216
Mitogenomes from Two Uncommon Haplogroups Mark Late Glacial/Postglacial Expansions from the Near East and Neolithic Dispersals within Europe
Olivieri, Anna; Pala, Maria; Gandini, Francesca; Kashani, Baharak Hooshiar; Perego, Ugo A.; Woodward, Scott R.; Grugni, Viola; Battaglia, Vincenza; Semino, Ornella; Achilli, Alessandro; Richards, Martin B.; Torroni, Antonio
The current human mitochondrial (mtDNA) phylogeny does not equally represent all human populations but is biased in favour of representatives originally from north and central Europe. This especially affects the phylogeny of some uncommon West Eurasian haplogroups, including I and W, whose southern European and Near Eastern components are very poorly represented, suggesting that extensive hidden phylogenetic substructure remains to be uncovered. This study expanded and re-analysed the available datasets of I and W complete mtDNA genomes, reaching a comprehensive 419 mitogenomes, and searched for precise correlations between the ages and geographical distributions of their numerous newly identified subclades with events of human dispersal which contributed to the genetic formation of modern Europeans. Our results showed that haplogroups I (within N1a1b) and W originated in the Near East during the Last Glacial Maximum or pre-warming period (the period of gradual warming between the end of the LGM, ?19 ky ago, and the beginning of the first main warming phase, ?15 ky ago) and, like the much more common haplogroups J and T, may have been involved in Late Glacial expansions starting from the Near East. Thus our data contribute to a better definition of the Late and postglacial re-peopling of Europe, providing further evidence for the scenario that major population expansions started after the Last Glacial Maximum but before Neolithic times, but also evidencing traces of diffusion events in several I and W subclades dating to the European Neolithic and restricted to Europe. PMID:23936216
Genomic characterization of uncommon human G3P[6] rotavirus strains causing diarrhea in children in Italy in 2009.
Ianiro, Giovanni; Delogu, Roberto; Fiore, Lucia; Ruggeri, Franco M
Group A rotaviruses (RVA) are the leading cause of acute gastroenteritis in young children, causing up to 450,000 deaths worldwide, mostly in developing countries. Most of RVA human infections in developed countries are related to five major G/P combinations: G1P[8], G2P[4], G3P[8], G4P[8] and G9P[8]. During the surveillance activity of RotaNet-Italy, three uncommon G3P[6] RVA strains, designated as RVA/Human-wt/ITA/NA01/2009/G3P[6], RVA/Human-wt/ITA/NA06/2009/G3P[6], and RVA/Human-wt/ITA/NA19/2009/G3P[6], were identified in the stools of children with diarrhea hospitalized in Southern Italy in 2009. Samples NA01, NA06 and NA19 were characterized as genotype G3P[6]. To investigate the three strains further, partial sequencing of the eleven genomic segments was performed. RVA strains NA01, NA06 and NA19 were found to share the rare genotype constellation: G3-P[6]-I2-R2-C2-M2-A2-N2-T2-E2-H2, which had not been reported previously in continental Italy. The phylogenetic analysis of the eleven genomic segments showed no evidence of zoonosis or inter-species reassortment at the origin of the Italian G3P[6] strains, indicating that they possessed DS-1-like genomic constellations similar to those detected previously in human cases in Africa and Europe. The analysis of the hypervariable regions of VP7 and VP4 (VP8*) revealed high amino acid identity between the Italian G3P[6] RVA strains involved in this study. PMID:25913157
Fox-fordyce disease: diagnosis with transverse histologic sections
Mitchell E. Stashower; Stephen J. Krivda; George W. Turiansky
Fox-Fordyce disease (FFD) is an uncommon chronic follicular based dermatosis with distinctive clinical characteristics consisting of pruritic papules confined to apocrine gland-bearing skin. Histologic confirmation of this entity is often time-consuming and difficult with conventional histologic sectioning. We describe a case of FFD occurring in a 26-year-old woman, in which we used transverse histologic sectioning to easily demonstrate the histopathologic
An experimental and theoretical study to relate uncommon rock/fluid properties to oil recovery. Quarterly report, January 1, 1993--March 31, 1993
Watson, R.W.; Ertekin, T.; Owolabi, O.O.
The overall objectives of the project are: To develop a better understanding of some important but not really well investigated rock/pore properties such as: tortuosity, pore-size distribution, surface area, and wettability, and a better insight on capillary pressure variation with respect to wettability and pore geometry of sandstone and limestone. To improve the understanding of fluid flow in porous media under conditions of secondary and tertiary recovery through the laboratory study of the performance of enhanced recovery methods such as waterflooding. To develop empirical relationships between residual oil saturation and oil recovery at breakthrough and the uncommon rock/pore properties. Develop relationships between residual oil saturation and ultimate oil recovery at floodout and the uncommon rock/pore properties for the different porous media. Furthermore, variations of irreducible water saturation, porosity and absolute permeability with respect to the uncommon rock/pore properties, residual oil saturation and oil recovery will be investigated. During the current quarter, new empirical mercury recovery efficiency and permeability correlations for sandstones were developed. The correlations were developed by utilizing the 450 core-plugs data that were previously obtained from the mercury porosimetry analyses for sandstones.
An experimental and theoretical study to relate uncommon rock/fluid properties to oil recovery. Quarterly report, October 1, 1992--December 31, 1992
Watson, R.W.; Ertekin, T.; Owolabi, O.O.
The overall objectives of the project are: To develop a better understanding of some important but not really well investigated rock/pore properties such as: tortuosity, pore-size distribution. surface area, and wettability, and a better insight on capillary pressure variation with respect to wettability and pore geometry of sandstone and limestone. To improve the understanding of fluid flow in porous media under conditions of secondary and tertiary recovery, through the laboratory study of the performance of enhanced recovery methods such as waterflooding. To develop empirical relationships between residual oil saturation and oil recovery at breakthrough and the uncommon rock/pore properties. Develop relationships between residual oil saturation and ultimate-oil recovery at floodout and the uncommon rock/pore properties for the different porous media. Furthermore, variations of irreducible water saturation, porosity and absolute permeability with respect to the uncommon rock/pore properties, residual oil saturation and oil recovery will be investigated. During the current quarter, the mercury porosimetry experiments on limestone core-plug samples were completed. The experimental data were also fully analyzed.
A report of three cases of untreated Graves' disease associated with pancytopenia in Malaysia
Rafhati, Abdullah Noor; See, Chee Keong; Hoo, Fan Kee; Badrulnizam, Long Bidin Mohamed
Generally, clinical presentations of Graves' disease range from asymptomatic disease to overt symptomatic hyperthyroidism with heat intolerance, tremor, palpitation, weight loss, and increased appetite. However, atypical presentation of Graves' disease with hematological system involvement, notably pancytopenia, is distinctly uncommon. Hereby, we present and discuss a series of three untreated cases of Graves' disease clinically presented with pancytopenia and the hematological abnormalities that responded well to anti-thyroid treatment. With resolution of the thyrotoxic state, the hematological parameters improved simultaneously. Thus, it is crucial that anti-thyroid treatment be considered in patients with Graves' disease and pancytopenia after a thorough hematological evaluation. PMID:25763162
Beneficial Effect of Rituximab in Combination with Oral Cyclophosphamide in Primary Chronic Cold Agglutinin Disease
A. Vassou; V. Alymara; A. Chaidos; K. L. Bourantas
Cold agglutinin disease (CAD) is an uncommon autoimmune hemolytic anemia characterized by B-cell proliferation. Conventional\\u000a therapies for primary CAD such as corticosteroids, oral alkylating agents, splenectomy, interferon a, and plasma exchange\\u000a are often ineffective at controlling the disease. The anti-CD20 monoclonal antibody rituximab (MabThera) depletes B-lymphocytes\\u000a and thereby interferes with the production of cold agglutinin. We describe an elderly patient
Chapter 4: Burden and management of non-cancerous HPVrelated conditions: HPV6\\/11 disease
Charles J. N. Lacey; Catherine M. Lowndes; Keerti V. Shah
Human Papillomavirus (HPV)-6 and -11 are the causative agents of ano-genital warts (GWs) and recurrent respiratory papillomatosis (RRP). They are low-risk HPV types that are uncommonly found in malignant lesions. GWs are an extremely prevalent sexually transmitted disease, whereas RRP is a rare disease that can be life threatening and requires multiple surgical procedures. GWs and RRP cause substantial healthcare
The role of glia in retinal vascular disease.
Coorey, Nathan J; Shen, Weiyong; Chung, Sook H; Zhu, Ling; Gillies, Mark C
Retinal vascular diseases collectively represent a leading cause of blindness. Unsurprisingly, pathological characterisation and treatment of retinal 'vascular' diseases have primarily focused on the aetiology and consequences of vascular dysfunction. Far less research has addressed the contribution of neuronal and glial dysfunction to the disease process of retinal vascular disorders. Ample evidence now suggests that retinal vasculopathy only uncommonly occurs in isolation, usually existing in concert with neuropathy and gliopathy. Retinal glia (Müller cells, astrocytes and microglia) have been reported to exhibit morphological and functional changes in both early and advanced phases of almost every retinal vascular disease. It is anticipated that identifying the causes of glial activation and dysfunction, and their contribution to loss of vision in retinal vascular disease, will lead to a better understanding of retinal vascular diseases, which might ultimately be translated into novel clinical therapies. PMID:22519424
Myeloproliferative disease in a cat
Yates, R.W.; Weller, R.E.; Feldman, B.F.
Myeloproliferative disorders, a complex of cytologic abnormalities arising in the bone marrow, are among domestic animals most frequently recognized in cats but are relatively uncommon. A 4-year-old female Siamese, with splenomegaly and weight loss, was listless, anorectic, pale and dehydrated. A hemogram showed severe, macrocytic normochromic anemia, leukocytosis and reticulocytosis, with abnormally high numbers of nucleated RBC and undifferentiated blast cells. Bone marrow smears contained predominantly undifferentiated blast cells, RBC precursors and myeloblasts. The fluorescent antibody test for FeLV was positive. The cat died 66 days later despite a blood transfusion and chemotherapy. Necropsy confirmed a diagnosis of myeloproliferative disease, with hepatic and splenic invasion. 15 references, 5 figures, 1 table.
Tumour Calcification and Calciphylaxis in End-Stage Renal Disease
Di, Jia; Jiang, Zhenxing; Yang, Min
Although soft tissue and vascular calcifications are common in CKD and progress as an independent risk factor of all-cause mortality, tumour calcification and calciphylaxis are uncommon in patients with end-stage renal disease (ESRD). Here, we discuss a rare case of a patient with tumour calcification complicated with calciphylaxis developed septic shock from infection. Our patient is a 57-year-old man in his late stage of renal disease who presented with a huge mass at the right hip and necrotic cutaneous ulcers on the lower legs followed by local and systemic infection and death due to septic shock. PMID:25477966
Primary Testicular Carcinoid Tumor presenting as Carcinoid Heart Disease
Chikkaraddi, Manjunath L.; Krishna, Sudeep; Shetty, Manjunath
Primary carcinoid tumors of the testis are very rare, and they seldom present with carcinoid syndrome. We report a hereto unreported instance, where a patient with a long-standing testicular mass presented with carcinoid heart disease, an uncommon form of carcinoid syndrome. He presented with symptoms of right heart failure, episodic facial flushing and was found to have severe right-sided valvular heart disease. His urinary 5-hydroxy indole acetic acid level was elevated. He underwent orchidectomy and the histopathology confirmed a testicular carcinoid tumor. PMID:25624579
Transient myeloproliferative disease: keeping a high index of suspicion.
King, Michelle Elizabeth; Hueckel, Remi
Transient myeloproliferative disorder (TMD) can be found in well or ill newborns with Down syndrome. Although it is a relatively harmless process for most, in some children, TMD can present as a life-threatening state requiring critical care. As the disease is seemingly uncommon, some providers may lack a sense of urgency in the dissemination of TMD awareness; however, one can never know on whose door this patient may knock tomorrow. Advanced practice professionals should be prepared for the TMD patient that may present without warning. The goals of this article are to discuss common presentations, diagnosis, and management; and to bring attention to this often de-emphasized disease. PMID:22907684
Tumour calcification and calciphylaxis in end-stage renal disease.
Di, Jia; Jiang, Zhenxing; Yang, Min
Although soft tissue and vascular calcifications are common in CKD and progress as an independent risk factor of all-cause mortality, tumour calcification and calciphylaxis are uncommon in patients with end-stage renal disease (ESRD). Here, we discuss a rare case of a patient with tumour calcification complicated with calciphylaxis developed septic shock from infection. Our patient is a 57-year-old man in his late stage of renal disease who presented with a huge mass at the right hip and necrotic cutaneous ulcers on the lower legs followed by local and systemic infection and death due to septic shock. PMID:25477966
An outbreak of salmonella chester infection in Canada: rare serotype, uncommon exposure, and unusual population demographic facilitate rapid identification of food vehicle.
Taylor, John; Galanis, Eleni; Wilcott, Lynn; Hoang, Linda; Stone, Jason; Ekkert, Judi; Quibell, Doug; Huddleston, Mark; McCormick, Rachel; Whitfield, Yvonne; Adhikari, Bijay; Grant, Christopher C R; Sharma, Davendra
Salmonella Chester infection has rarely been reported in the literature. In 2010, 33 case patients were reported in 2 months in four Canadian provinces. We conducted an outbreak investigation in collaboration with public health agencies, food safety specialists, regulatory agencies, grocery store chains, and the product distributor. We used case patient interviews, customer loyalty cards, and microbiological testing of clinical and food samples to identify nationally distributed head cheese as the food vehicle responsible for the outbreak. The rare serotype, a limited affected demographic group, and an uncommon exposure led to the rapid identification of the source. Control measures were implemented within 9 days of notification of the outbreak. PMID:22488063
Zinc absorption in inflammatory bowel disease
Valberg, L.S.; Flanagan, P.R.; Kertesz, A.; Bondy, D.C.
Zinc absorption was measured in 29 patients with inflammatory bowel disease and a wide spectrum of disease activity to determine its relationship to disease activity, general nutritional state, and zinc status. Patients with severe disease requiring either supplementary oral or parenteral nutrition were excluded. The mean 65ZnCl2 absorption, in the patients, determined using a 65Zn and 51Cr stool-counting test, 45 +/- 17% (SD), was significantly lower than the values, 54 +/- 16%, in 30 healthy controls, P less than 0.05. Low 65ZnCl2 absorption was related to undernutrition, but not to disease activity in the absence of undernutrition or to zinc status estimated by leukocyte zinc measurements. Mean plasma zinc or leukocyte zinc concentrations in patients did not differ significantly from controls, and only two patients with moderate disease had leukocyte zinc values below the 5th percentile of normal. In another group of nine patients with inflammatory bowel disease of mild-to-moderate severity and minimal nutritional impairment, 65Zn absorption from an extrinsically labeled turkey test meal was 31 +/- 10% compared to 33 +/- 7% in 17 healthy controls, P greater than 0.1. Thus, impairment in 65ZnCl2 absorption in the patients selected for this study was only evident in undernourished persons with moderate or severe disease activity, but biochemical evidence of zinc deficiency was uncommon, and clinical features of zinc depletion were not encountered.
... Organizations What is Refsum Disease? Adult Refsum disease (ARD) is a rare genetic disease that causes weakness ... neuropathy). Due to a genetic abnormality, people with ARD disease lack the enzyme in peroxisomes that break ...
NINDS Fabry Disease Information Page Table of Contents (click to jump to sections) What is Fabry Disease? Is there any ... is being done? Clinical Trials Organizations What is Fabry Disease? Fabry disease is caused by the lack of ...
... information Autoimmune diseases fact sheet Diabetes fact sheet Hashimoto's disease fact sheet Illnesses and disabilities Lupus fact ... of overactive thyroid. It is closely related to Hashimoto's disease, another autoimmune disease affecting the thyroid. Return ...
NINDS Behcet's Disease Information Page Table of Contents (click to jump to sections) What is Behcet's Disease? Is there any ... Trials Organizations Additional resources from MedlinePlus What is Behcet's Disease? Behcet's disease is a rare, chronic inflammatory disorder. ...
Technology Transfer Automated Retrieval System (TEKTRAN)
Major lentil diseases around the world have been described and reviewed. The major diseases include Ascochyta blight, Fusarium wilt, Botrytis Gray Mold, Lentil rust, Stemphylium blight, Anthracnose, and virus diseases. The management practices for these diseases are also presented....
Inflammatory bowel disease - Crohn's disease; Regional enteritis; Ileitis; Granulomatous ileocolitis; IBD- Crohn's disease ... Pa: Saunders Elsevier; 2010:chap 111. Lichenstein GR. Inflammatory bowel disease. In: Goldman L, Schafer AI, eds. Cecil Medicine . ...
Chronic Granulomatous Disease.
Agarwal, Shreya
Chronic Granulomatous Disease (CGD) is an inherited immunodeficiency disorder characterized by defective functioning of NADPH oxidase enzyme in the phagocytes. This leads to recurrent infections by catalase positive organisms and later, granuloma formation in multiple organs. This condition usually presents in the age group of 2-5 y and is uncommon in neonates. In this case report, we describe a rare case of CGD in a 40-day-old male child who initially presented with a history of erythematous pustular rash on left forearm and refusal to feeds. He remained unresponsive to regular antibiotics. CT chest and abdomen revealed multiple ill-defined lesions suggestive of granulomas or developing abscesses. Immunodeficiency workup showed negative Nitroblue Tetrazolium test and positive Dihydrorhodamine test (flow cytometry). A diagnosis of CGD was then made and treated accordingly. The aim of this report is to highlight the fact that although it is rare for CGD to present at such an early age, but in a neonate with multiple granulomas or abscesses, it should be considered as a differential and worked up accordingly. Early diagnosis and treatment can significantly improve the prognosis. PMID:26155526
Twiddler (or Not) Syndrome: Questioning etiology for an uncommon form of hardware malfunction in deep brain stimulation
Silva, Pedro Alberto; Chamadoira, Clara; Costa, Henrique; Linhares, Paulo; Rosas, Maria José; Vaz, Rui
Background: Hardware failure or malfunction after deep brain stimulation is an infrequent but costly occurrence with currently available systems. Case Description: The authors present the case of a 65-year-old female patient with predominantly tremoric Parkinson's disease who, 4 months after bilateral subthalamic nucleus stimulation with very good clinical results, began to display signs of recurrent disease and an increasingly smaller response to stimulation. Radiological studies, changes in electrode impedance and surgical findings and results established the diagnosis of Twiddler syndrome. Close patient follow-up, lack of a psychiatric history and physical examination findings were, however, contrary to the previously described causative mechanism. Conclusion: The clinical and radiological setup of Twiddler syndrome must be readily recognized. Its causative mechanism should remain under discussion, and intraoperative technical details may help to explain its occurrence. PMID:25289171
Mukkada, Philson J; Franklin, Teenu; Rajeswaran, Rangasami; Joseph, Santhosh
Ribbing disease is a rare sclerosing dysplasia that involves long tubular bones, especially the tibia and femur. It occurs after puberty and is reported to be more common in women. In this article we describe how Ribbing disease can be differentiated from diseases like Engelmann-Camurati disease, van Buchem disease, Erdheim-Chester disease, osteoid osteoma, chronic osteomyelitis, stress fracture, etc. PMID:20351994
Mukkada, Philson J; Franklin, Teenu; Rajeswaran, Rangasami; Joseph, Santhosh
Ribbing disease is a rare sclerosing dysplasia that involves long tubular bones, especially the tibia and femur. It occurs after puberty and is reported to be more common in women. In this article we describe how Ribbing disease can be differentiated from diseases like Engelmann-Camurati disease, van Buchem disease, Erdheim-Chester disease, osteoid osteoma, chronic osteomyelitis, stress fracture, etc. PMID:20351994
Diseases of the respiratory tract of chelonians.
Origgi, F C; Jacobson, E R
Diseases of the respiratory tract commonly occur in captive chelonians, and several diseases also have occurred in wild chelonians. Infectious causes include viruses, bacteria, fungi, and parasites. Herpesviruses have surfaced as important pathogens of the oral cavity and respiratory tract in Hermann's tortoise (Testudo hermanii), spur-thighed tortoise (Testudo graeca), and other tortoises in Europe and the United States. Herpesvirus-associated respiratory diseases also have been reported in the green turtle, Chelonia mydas, in mariculture in the Cayman Islands. Of diseases caused by bacteria, an upper respiratory tract disease caused by Mycoplasma sp has been reported in free-hanging and captive gopher tortoises in the southeastern United States and in desert tortoises in the Mojave Desert of the southwestern United States. Mycotic pulmonary disease is commonly reported in captive chelonians, especially in those maintained at suboptimal temperatures. An intranuclear coccidia has been seen in several species of captive tortoises in the United States, and, in one case, a severe proliferative pneumonia was associated with organisms in the lung. The most common noninfectious cause of respiratory disease in chelonians results from trauma to the carapace. Although pulmonary fibromas commonly occur in green turtles with fibropapillomatosis, for the most part, tumors of the respiratory tract are uncommon in chelonians. PMID:11228895
Large bowel obstruction resulting from bladder transitional cell carcinoma metastasis: a common cancer presenting in an uncommon manner
Rohloff, Matthew; VandenBerg, Todd; MacMath, Terry
Transitional cell carcinoma (TCC) and large bowel obstructions are both common disease processes typically considered unrelated. Presented below is the case of a 49-year-old male with a large bowel obstruction caused by a bladder TCC metastasis. One year prior to large bowel obstruction presentation, the patient had a T2, Grade III TCC of the bladder with no nodal involvement or metastasis, which was removed via radical cystoprostatectomy. This case serves as a reminder that cancer, despite common pathogenesis patterns, can present in atypical ways. PMID:26197806
Human adenovirus type 8 epidemic keratoconjunctivitis with large corneal epithelial full-layer detachment: an endemic outbreak with uncommon manifestations
Lee, Yueh-Chang; Chen, Nancy; Huang, I-Tsong; Yang, Hui-Hua; Huang, Chin-Te; Chen, Li-Kuang; Sheu, Min-Muh
Epidemic viral conjunctivitis is a highly contagious disease that is encountered year-round. The causative agents are mainly adenoviruses and enteroviruses. It occurs most commonly upon infection with subgroup D adenoviruses of types 8, 19, or 37. For common corneal involvement of human adenovirus type 8 epidemic keratoconjunctivitis, full-layer epithelial detachment is rarely seen. Herein, we report three cases of epidemic keratoconjunctivitis during an outbreak which manifested as large corneal epithelial full-layer detachment within a few days. The lesions healed without severe sequelae under proper treatment. The unique manifestation of this outbreak may indicate the evolution of human adenovirus type 8.
An uncommon cause of visceral arterial embolism in patients presenting with acute abdominal pain: a report of 2 cases.
Ulenaers, M; Buchel, O C; Van Olmen, A; Moons, V; D'Haens, G; Christiaens, P
We report on 2 cases of visceral arterial embolism presenting with acute abdominal pain. In neither patient a cause could be established on initial clinical, laboratory, echographic or radiological investigation. Both patients were subsequently found to have a mural thrombus in the thoracic aorta, with visceral arterial embolism. Each underwent a successful operative thrombectomy. Both patients had a normal underlying aortic intima at inspection. The first patient was a young male with no known diseases. He regularly used cannabis and tested positive on admission, an association not yet reported with aortic mural thrombus. He was found to have a slightly reduced protein C. The second patient was a middle aged man with non-insulin dependent diabetes, hyperlipidaemia, arterial hypertension and hyperthyroidism. He was found to have an underlying adenocarcinoma of the lung and received chemotherapy. He died due to his cancer, 4 months after first presentation. PMID:20458852
... a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, ... Institutes of Health (NIH), conducts research about lipid storage diseases such as Farber's disease in laboratories at ...
... Kidney Disease: What is Kidney Disease? In This Topic What is Kidney Disease? Risk Factors and Prevention ... for More Information National Institute on Aging Related Topics Diabetes High Blood Pressure Heart Failure The information ...
NINDS Kennedy's Disease Information Page Synonym(s): Bulbospinal Muscular Atrophy, X-Linked Spinal and Bulbar Muscular Atrophy Table of Contents ( ... is being done? Clinical Trials Organizations What is Kennedy's Disease? Kennedy's disease is an inherited motor neuron ...
... link in the menu on the left. Common Names Kinky hair disease Menkes disease Menkes syndrome Steely hair disease Medical or Scientific Names Congenital hypocupremia (pronounced kuhn-JEN-i-tl hahy- ...
Recurrent glomerular disease in the kidney allograft.
Menn-Josephy, Hanni; Beck, Laurence H
Glomerulonephritis is responsible for nearly 15% of prevalent end-stage renal disease, and many of these patients will receive kidney transplants with the potential for a long duration of allograft survival. Recurrent glomerular disease, however, is not uncommon and can lead to both substantial morbidity and/or loss of the kidney allograft. The timing of recurrence after transplantation as well as the prevalence of recurrent disease vary by study, especially accounting for differences in protocol versus clinically-indicated biopsies, the use of immunofluorescence or electron microscopy in histopathological evaluation, and length of follow-up. Transplant immunosuppression alone may be sufficient to keep some recurrent disease in a subclinical form, whereas other recurrent glomerular diseases may be clinically evident and progress to threaten the allograft. This review highlights the epidemiology, diagnosis, and treatment of five common glomerular diseases that may recur in the transplant: focal and segmental glomerulosclerosis (FSGS), membranous nephropathy (MN), membranoproliferative glomerulonephritis (MPGN), immunoglobulin A nephropathy (IgAN), and lupus nephritis (LN). PMID:25553369
... of Prestigious 2015 Awards Addressing the Challenges of Serogroup B Meningococcal Disease Outbreaks on Campuses The History of Vaccines: Vaccines for Teenagers 14 Adult Vaccine-Preventable Diseases ...
Controlling distant metastasis and surgical treatment are crucial for improving clinical outcome in uncommon head and neck malignancies, such as non-squamous cell carcinoma
The objective of this study was to elucidate the clinical characteristics of uncommon head and neck malignancies, such as non-squamous cell carcinoma (SCC), in order to improve patient outcomes. A total of 463 head and neck malignancies were retrospectively analyzed, with 43 cases (9.3%) diagnosed as non-SCC. The overall survival rate of patients with adenoid cystic carcinoma was significantly worse compared to that of patients with SCC. The 5-year survival rates were <50% for patients with malignant melanoma, adenocarcinoma, small-cell carcinoma and sarcomas. Distant metastasis to the lung was frequently observed in cases with a poor outcome. Non-SCC malignancies treated without surgery were associated with a worse outcome. Some non-SCC patients had a poor prognosis and distant metastasis was associated with an unsatisfactory outcome. Timely treatment and control of distant metastasis are essential and surgical treatment should be prioritized in non-SCC cases to improve patient outcomes. PMID:24940505
Myxomatous mitral valve disease in dogs: Does size matter?
Parker, Heidi G.; Kilroy-Glynn, Paul
Myxomatous mitral valve disease (MMVD) is the most commonly diagnosed cardiovascular disease in the dog accounting for more than 70% of all cardiovascular disease in dogs. As are most canine diseases with genetic underpinnings, risk of MMVD is greatly increased in a subset of breeds. What is uncommon is that the vast majority of the breeds at elevated risk for MMVD are small or toy breeds with average adult weights under 9 kg. These breeds appear to have little in common other than their diminutive size. In the following review we propose a number of mechanisms by which relatively unrelated small breeds may have developed a predisposition for chronic valvular disorders. Although factors such as age are key in the expression of MMVD, taking a comprehensive look at the commonalities, as well as the differences, between the susceptible breeds may assist in finding the causal variants responsible for MMVD and translating them to improved treatments for both dogs and humans. PMID:22356836
Geographical and temporal distribution of Ockelbo disease in Sweden.
Lundström, J. O.; Vene, S.; Espmark, A.; Engvall, M.; Niklasson, B.
The incidence of Ockelbo disease and the prevalence of Ockelbo virus neutralizing antibodies were investigated in a sample of the Swedish population. The disease occurs throughout most of Sweden but with higher incidence and antibody prevalence rates in the central part of the country. It generally affects middle-aged men and women, with equal incidence between sexes, and is uncommon in people younger than 20 years of age. The disease occurs during a short period each year between the third week of July and the first week of October, with a peak during the second half of August. During the 8 years studied (1981-8), an average of 31 Ockelbo patients/year were diagnosed. The antibody prevalence rates in the oldest age groups were 20-40 times higher than the accumulated life-risk of being diagnosed and reported as an Ockelbo disease patient, which suggests that many cases are asymptomatic and/or unreported. PMID:1646735
Myxomatous mitral valve disease in dogs: does size matter?
Parker, Heidi G; Kilroy-Glynn, Paul
Myxomatous mitral valve disease (MMVD) is the most commonly diagnosed cardiovascular disease in the dog accounting for more than 70% of all cardiovascular disease in dogs. As are most canine diseases with genetic underpinnings, risk of MMVD is greatly increased in a subset of breeds. What is uncommon is that the vast majority of the breeds at elevated risk for MMVD are small or toy breeds with average adult weights under 9 kg. These breeds appear to have little in common other than their diminutive size. In the following review we propose a number of mechanisms by which relatively unrelated small breeds may have developed a predisposition for chronic valvular disorders. Although factors such as age are key in the expression of MMVD, taking a comprehensive look at the commonalities, as well as the differences, between the susceptible breeds may assist in finding the causal variants responsible for MMVD and translating them to improved treatments for both dogs and humans. PMID:22356836
Current Status of Therapy in Autoimmune Liver Disease
Al-Harthi, Nadya; Heathcote, E. Jenny
Therapeutic strategies for autoimmune liver diseases are increasingly established. Although proportionately uncommon, specialist centers have with time refined the best approaches for each disease, based on an improved understanding of the spectrum of presentation. The major treatment aims are to prevent end-stage liver disease and its associated complications. As a result of drugs such as ursodeoxycholic acid, predniso(lo)ne and azathioprine, both primary biliary cirrhosis and autoimmune hepatitis are now less commonly indications for liver transplantation. Unfortunately, the same inroads in treatment efficacy have as yet not been made for primary sclerosing cholangitis, although the recognition that a subset of patients may have a treatable secondary sclerosing cholangitis (IgG4 related) is helping a proportion. With better biological understanding, more specific interventions are expected that will benefit all those with autoimmune liver diseases. PMID:21180531
MICA(?)078: A novel allele identified in a Moroccan individual affected by celiac disease.
Piancatelli, Daniela; Oumhani, Khadija; Benelbarhdadi, Imane; Del Beato, Tiziana; Colanardi, Alessia; Sebastiani, Pierluigi; Tessitore, Alessandra; El Aouad, Rajae; Essaid, Abdellah
A novel MICA allele, MICA(?)078, has been identified during HLA/MICA high resolution typing of Moroccan patients with celiac disease. MICA(?)078 shows an uncommon variation at a highly conserved nucleotide position (nt 493, G?A), resulting in one amino acid change at codon 142 (V?I) of MICA gene (compared to MICA(?)002:01), located in the ?2-domain, in which V142 is the common residue. PMID:25797203
Bilateral multifocal uveal juvenile xanthogranuloma in a young boy with systemic disease
Pierre Labalette; Françoise Guilbert; Denis Jourdel; Brigitte Nelken; Jean-Christophe Cuvellier; Claude-Alain Maurage
Background. Juvenile xanthogranuloma is a rare non-Langerhans cell histiocytosis that could occasionally produce diffuse systemic disease in young children, but associated posterior uveal lesions are very uncommon. Methods. Case report of an 8-month-old boy with macrocephaly who presented with chronic subdural haematoma and intracranial hypertension. A combination of nodular skin lesions and bilateral yellowish choroidal infiltration with limited retinal involvement
Cushing's disease as a cause of severe osteoporosis: a clinical challenge.
Abdel-Kader, Nadia; Cardiel, Mario H; Navarro Compan, Victoria; Piedra Priego, Juan; González, Ana
Secondary osteoporosis is a frequently underestimated bone disorder. It is a secondary cause of bone loss that affects more than half of men and premenopausal and perimenopausal women, and about one-fitfth of postmenopausal women. We herein report an uncommon case of multiple fractures due to secondary osteoporosis caused by Cushing's disease. In this case the appearance of fractures in a 41 years old woman was the sign of alarm that ultimately lead us to the diagnosis. PMID:22421455
Common and unusual diseases involving the iliopsoas muscle compartment: spectrum of cross-sectional imaging findings
Massimo Tonolini; Alessandro Campari; Roberto Bianco
Although relatively uncommon, many different infectious, hemorrhagic and neoplastic disease processes may involve the iliac\\u000a and psoas muscles and are increasingly diagnosed especially in referral hospitals. Furthermore, the iliopsoas compartment\\u000a may become injured during trauma, percutaneous instrumentation, laparoscopic or open surgical procedures. State-of-the-art\\u000a cross-sectional imaging including volumetric multidetector CT and multiplanar MRI acquisitions allows prompt detection, comprehensive\\u000a visualization and confident
Letter: Recurrence of periumbilical Paget disease after fresh Mohs treated with slow Mohs with CK-7.
Ferández, I Salüero; Buceta, L Rios; Del Real, Carmen Moreno Garcia; Gijón, Rosario Carrillo
Extrammamary Paget disease (EMPD) is an uncommon neoplasm that often involves the skin of the genital or perianal regions. There are no clearly established guidelines for treatment, but surgical excision with wide margins (3-5 cm) or Mohs micrographic surgery (MMS) are the techniques of choice when there is no association with an underlying neoplasm. We present a case of EMPD in an unusual location (periumbilical skin). This was treated with fresh MMS, but reappeared, necessitating a second MMS (slow). PMID:21810398
Discrepancy in MALDI-TOF MS identification of uncommon Gram-negative bacteria from lower respiratory secretions in patients with cystic fibrosis
AbdulWahab, Atqah; Taj-Aldeen, Saad J; Ibrahim, Emad Bashir; Talaq, Eman; Abu-Madi, Marawan; Fotedar, Rashmi
Introduction Early identification of microbial organisms from respiratory secretions of patients with cystic fibrosis (CF) is important to guide therapeutic decisions. The objective was to compare the accuracy of matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS) relative to the conventional phenotypic method in identifying common bacterial isolates, including nonfermenting Gram-negative bacteria, in a cohort of patients with CF. Methods A total of 123 isolates from 50 patients with CF representing 14 bacterial species from respiratory specimens were identified using MALDI-TOF MS in parallel with conventional phenotypic methods. Discrepancies were confirmed by 16S ribosomal RNA (rRNA) gene sequencing in five Gram-negative isolates. Results The MALDI-TOF MS managed to identify 122/123 (99.2%) bacterial isolates to the genus level and 118/123 (95.9%) were identified to the species level. The MALDI-TOF MS results were 100% consistent to the species level with conventional phenotypic identification for isolates of Staphylococcus aureus, Pseudomonas aeruginosa, Haemophilus influenzae, Streptococcus pyogenes, Achromobacter xylosoxidans, Stenotrophomonas maltophilia, and other uncommon organisms such as Chryseobacterium gleum and Enterobacter cloacae. The 5/123 (4.6%) isolates misidentified were all Gram-negative bacteria. The isolation of E. cloacae and Haemophilus paraphrohaemolyticus may extend the potentially pathogenic list of organisms isolated from patients with CF. Conclusion Although the technique provides an early identification and antimicrobial therapy approach in patients with CF, limitation in the diagnosis of uncommon Gram-negative bacteria may exist. PMID:25995646
Biliary fascioliasis--an uncommon cause of recurrent biliary colics: report of a case and brief review.
Al Qurashi, Hesham; Masoodi, Ibrahim; Al Sofiyani, Mohammad; Al Musharaf, Hisham; Shaqhan, Mohammed; All, Gamal Nasr Ahmed Abdel
Biliary parasitosis is one of the important causes of biliary obstruction in endemic areas, however due to migration and travel the disease is known to occur in non endemic zones as well. The spectrum of biliary fascioliasis ranges from recurrent biliary colics to acute cholangitis. The long term complications are gall stones, sclerosing cholangitis and biliary cirrhosis. We describe fascioliasis as a cause of recurrent biliary colics in a young male necessitating multiple hospitalizations over a period of four years. Investigative profile had been non-contributory every time he was hospitalized for his abdominal pain prior to the current presentation. He never had cholangitis due to the worm in the common bile duct. It was only at endoscopic retrograde cholangiopancreatography (ERCP) biliary fascioliasis was discovered to be the cause of his recurrent biliary colics. After removal of the live Fasciola hepatica from the common bile duct he became symptom free and is attending our clinic for last 11 months now. Clinical spectrum of biliary fascioliasis is discussed in this report. PMID:22566787
The Brazilian founder mutation TP53 p.R337H is uncommon in Portuguese women diagnosed with breast cancer.
Giacomazzi, Juliana; Correia, Rudinei Luis; Palmero, Edenir Ines; Gaspar, Jorge Francisco; Almeida, Marta; Portela, Catarina; Camey, Suzi Alves; Monteiro, Augusta; Pinheiro, Manuela; Peixoto, Ana; Teixeira, Manuel R; Reis, Rui Manuel; Ashton-Prolla, Patricia
Since the first studies reporting the TP53 p.R337H mutation as founder mutation in Southern and Southeastern Brazil, there has been controversy on its origin. Preliminary analysis of a small subset of Brazilian mutation carriers revealed that the haplotype incided on a Caucasian background. The vast majority of carriers identified today reside in Brazil or, if identified in other countries, are Brazilian immigrants. To our knowledge, the only two exceptions of carriers without a recognizable link with Brazil are two European families, from Portugal and Germany. Haplotype analysis in the Portuguese family revealed the same haplotype identified in Brazilian individuals, but in the German family, a distinct haplotype was found. Knowing that a significant proportion of women with breast cancer (BC) in Southern Brazil are p.R337H carriers, we analyzed p.R337H in a Portuguese cohort of women diagnosed with this disease. Median age at diagnosis among the first 573 patients tested was 60 years and 100 (17.4%) patients had been diagnosed at or under the age of 45 years. Mutation screening failed to identify the mutation in the 573 patients tested. These results are in contrast with the mutation frequency observed in a study including 815 BC-affected women from Brazil, in which carrier frequencies of 12.1 and 5.1% in pre- and postmenopausal women were observed, respectively. These findings suggest that the Brazilian founder mutation p.R337H, the most frequent germline TP53 mutation reported to date, is not a common germline alteration in Portuguese women diagnosed with BC. PMID:25052705
Risk factors for uncommon histologic subtypes of breast cancer using centralized pathology review in the Breast Cancer Family Registry
Work, Meghan E.; Andrulis, Irene L.; John, Esther M.; Hopper, John L.; Liao, Yuyan; Zhang, Fang Fang; Knight, Julia A.; West, Dee W.; Milne, Roger L.; Giles, Graham G.; Longacre, Teri A.; O'Malley, Frances; Mulligan, Anna Marie; Southey, Melissa C.; Hibshoosh, Hanina
Epidemiologic studies of histologic types of breast cancer including mucinous, medullary, and tubular carcinomas have primarily relied on International Classification of Diseases-Oncology (ICD-O) codes assigned by local pathologists to define histology. Using data from the Breast Cancer Family Registry (BCFR), we compared histologic agreement between centralized BCFR pathology review and ICD-O codes available from local tumor registries among 3,260 breast cancer cases. Agreement was low to moderate for less common histologies; for example, only 55 and 26 % of cases classified as mucinous and medullary, respectively, by centralized review were similarly classified using ICD-O coding. We then evaluated risk factors for each histologic subtype by comparing each histologic case group defined by centralized review with a common set of 2,997 population-based controls using polytomous logistic regression. Parity [odds ratio (OR) = 0.4, 95 % confidence interval (95 % CI): 0.2–0.9, for parous vs. nulliparous], age at menarche (OR = 0.5, 95 % CI: 0.3–0.9, for age ?13 vs. ?11), and use of oral contraceptives (OCs) (OR = 0.5, 95 % CI: 0.2–0.8, OC use >5 years vs. never) were associated with mucinous carcinoma (N = 92 cases). Body mass index (BMI) (OR = 1.05, 95 % CI: 1.0–1.1, per unit of BMI) and high parity (OR = 2.6, 95 % CI: 1.1–6.0 for ?3 live births vs. nulliparous) were associated with medullary carcinoma (N = 90 cases). We did not find any associations between breast cancer risk factors and tubular carcinoma (N = 86 cases). Relative risk estimates from analyses using ICD-O classifications of histology, rather than centralized review, resulted in attenuated, and/or more imprecise, associations. These findings suggest risk factor heterogeneity across breast cancer tumor histologies, and demonstrate the value of centralized pathology review for classifying rarer tumor types. PMID:22527103
Behçet's disease in Iraqi patients.
Al-Rawi, Z S; Sharquie, K E; Khalifa, S J; Al-Hadithi, F M; Munir, J J
The clinical features of 60 patients (45 male, 15 female) with Behçet's disease (BD) are reported in this prospective study. Ninety seven per cent had mouth ulceration, 83% genital ulceration, 75% skin lesions, 48% ocular involvement, 48% synovitis, 17% thrombophlebitis, and 22% of the male patients had epidiymitis, while constitutional symptoms were reported by 63%. The arthritis was intermittent, self limiting, and non-destructive, involving large joints, mainly the knees and ankles. The pathergy test was positive in 37 of 52 patients with BD, and negative in all 120 healthy controls and in 20 healthy volunteers who possessed the HLA-B51 antigen. HLA-B51 was present in 32 of 52 (62%) patients with BD compared with 51 of 175 (29%) unrelated normal controls. Both the pathergy and HLA-B51 tests were negative in four of 52 patients with BD. Behçet's disease is not uncommon in Iraq. Practising physicians, dermatologists, and ophthalmologists must be more aware of its existence. PMID:3813669
... of Lyme disease to the Centers for Disease Control and Prevention in 2013. NIAID has a long-standing commitment to conduct Lyme disease research with the major goals of developing better means of diagnosing, treating, and preventing the disease. To ...
Technology Transfer Automated Retrieval System (TEKTRAN)
Newcastle disease (ND), referred to as Exotic Newcastle disease (END) in the U. S., is an acute viral disease of domestic poultry and many other bird species and a recognized worldwide problem. Occurrence of END is due to an infection with virulent strains of Newcastle disease virus (NDV) and is a ...
... you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the ... of disability. There are many different forms of heart disease. The most common cause of heart disease ...
Gerhard Nahler
\\u000a Disease linked to a genetic defect such as a mutated gene; there are about 4,000 to 5,000 genetic diseases known to medical\\u000a science such as cystic fibrosis, Down syndrome, sickle cell anemia, haemophilia, Gilles de la Tourette syndrome or Fabry's\\u000a disease; ? see also gene therapy, orphan diseases.
... Crohn's disease? Crohn's disease is a type of inflammatory bowel disease (IBD) that causes inflammation and irritation in the gastrointestinal ( ... before age 20. top of page How is Crohn's disease evaluated? Your primary doctor will begin by asking ...
Acute graft versus host disease after orthotopic liver transplantation
Graft versus host disease (GVHD) is an uncommon complication after orthotopic liver transplantation (OLT) with an incidence of 0.1–2%, but an 80–100% mortality rate. Patients can present with skin rashes, diarrhea, and bone marrow aplasia between two to eight weeks after OLT. Diagnosis of GVHD is made based on clinical and histologic evidence, supported by chimerism studies showing donor HLA alleles in the recipient bone marrow or blood. Several therapeutic approaches have been used for the management of GVHD after OLT including increased immunosuppression, decreased immunosuppression, and cellular therapies. However, success rates have been low, and new approaches are needed. PMID:22889203
Epidemiology of Gallbladder Disease: Cholelithiasis and Cancer
Stinton, Laura M.
Diseases of the gallbladder are common and costly. The best epidemiological screening method to accurately determine point prevalence of gallstone disease is ultrasonography. Many risk factors for cholesterol gallstone formation are not modifiable such as ethnic background, increasing age, female gender and family history or genetics. Conversely, the modifiable risks for cholesterol gallstones are obesity, rapid weight loss and a sedentary lifestyle. The rising epidemic of obesity and the metabolic syndrome predicts an escalation of cholesterol gallstone frequency. Risk factors for biliary sludge include pregnancy, drugs like ceftiaxone, octreotide and thiazide diuretics, and total parenteral nutrition or fasting. Diseases like cirrhosis, chronic hemolysis and ileal Crohn's disease are risk factors for black pigment stones. Gallstone disease in childhood, once considered rare, has become increasingly recognized with similar risk factors as those in adults, particularly obesity. Gallbladder cancer is uncommon in developed countries. In the U.S., it accounts for only ~ 5,000 cases per year. Elsewhere, high incidence rates occur in North and South American Indians. Other than ethnicity and female gender, additional risk factors for gallbladder cancer include cholelithiasis, advancing age, chronic inflammatory conditions affecting the gallbladder, congenital biliary abnormalities, and diagnostic confusion over gallbladder polyps. PMID:22570746
Langerhans cell histiocytosis with presentation as orbital disease
Bhanage, Ashok B.; Katkar, Anand D.; Ghate, Prajakta S.
Langerhans cell histiocytosis (LCH) is an uncommon multisystem disease with an abnormal polyclonal proliferation of Langerhans cells that invade various organs. In rare instances, the affection of the orbit is the only and the first symptom. We report an unusual case of an 18-month-old male who presented with orbital disease as the first symptom, in the form of chronic presentation of periorbital swelling (2 months duration) with acute inflammation (1-week duration) giving a suspicion of orbital cellulitis. Histopathology after radical excision confirmed the diagnosis of LCH and was advised initial therapy as per Histiocyte Society Evaluation and Treatment Guidelines (2009) but was lost to follow-up only reappearing with progression (multisystem LCH with risk organ involvement) and developed progressive active disease on treatment after 5 weeks. He was treated with salvage therapy for risk patients achieving complete remission.
Autosomal Dominant Inherited Cowden's Disease in a Family
Cowden's disease, also known as a kind of phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome, is an uncommon autosomal dominant inherited complex disorder with various hamartomatous growths of multiple organs involving all three germ cell layers. It usually manifests with polyps throughout the gastrointestinal tract, ranging anywhere from 30% to 85%, and more common extra intestinal findings. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules and macrocephaly, and malignancies including breast, thyroid and endometrial carcinoma are the hallmark of the disease. Here we report on familial Cowden's diseases case of a 52-year-old male proband with mucocutaneous lesions and mutation on the PTEN gene obtained by extrapolating from gastrointestinal polyposis as a starter and his daughter who developed thyroid cancer. PMID:23423780
El-Youssef, Mounif
Wilson disease is a rare disorder of copper metabolism that results in accumulation of copper in the liver and subsequently in other organs, mainly the central nervous system and the kidneys. Advances in the diagnosis and treatment of Wilson disease are discussed, with the emphasis that this is a disease of children, adolescents, and young adults. The myriad manifestations of Wilson disease make its diagnosis dependent on a high index of suspicion, and determination of its genetic background is helping to elucidate the genotype-phenotype correlation and the diversity of presentations. Treatment of Wilson disease has progressed from chelation therapy using D-penicillamine and trientine to the more recent use of zinc and finally to the establishment of liver transplantation as an urgent but excellent modality for fulminant presentation. The evolution of Wilson disease from a uniformly fatal disease to an eminently treatable disease during the past century is an example of the remarkable advances of modern medicine. PMID:12962167
Addison disease is a disorder that occurs when the adrenal glands do not produce enough hormones. ... estrogens (female), affect sexual development and sex drive. Addison disease results from damage to the adrenal cortex. ...
... the back of the eye Macular degeneration - a disease that destroys sharp, central vision Diabetic eye problems ... defense is to have regular checkups, because eye diseases do not always have symptoms. Early detection and ...
Chagas disease is caused by a parasite. It is common in Latin America but not in the United States. ... nose, the bite wound or a cut. The disease can also spread through contaminated food, a blood ...
Raynaud's disease is a rare disorder of the blood vessels, usually in the fingers and toes. It causes the ... secondary Raynaud's, which is caused by injuries, other diseases, or certain medicines. People in colder climates are ...
Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You need ... copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and ...
... a bug bite, or sexual contact. Some parasitic diseases are easily treated and some are not. Parasites ... be seen with the naked eye. Some parasitic diseases occur in the United States. Contaminated water supplies ...
Gaucher's disease is a rare, inherited disorder in which you do not have enough of an enzyme called glucocerebrosidase. ... It usually starts in childhood or adolescence. Gaucher's disease has no cure. Treatment options for types 1 ...
... low, you may have a hormone disorder. Hormone diseases also occur if your body does not respond ... In the United States, the most common endocrine disease is diabetes. There are many others. They are ...
... blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make ... problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, ...
Fifth disease is a viral infection caused by parvovirus B19. The virus only infects humans; it's not the same parvovirus that dogs and cats can get. Fifth disease mostly affects children. Symptoms can include a low ...
Legionnaires' disease is a type of pneumonia caused by bacteria. You usually get it by breathing in mist from ... spread from person to person. Symptoms of Legionnaires' disease include high fever, chills, a cough, and sometimes ...
... Share External Link Disclaimer Digestive Diseases Wilson Disease Alternate Versions PDF Version? (444 KB) You can also ... things psychosis—when a person loses contact with reality Other Signs and Symptoms Other signs and symptoms ...
... No, Keep Private Grover's Disease Share | Grover's disease (transient acantholytic dermatosis) is a condition that appears suddenly ... months (which is why it was originally called "transient"). Unfortunately it may last much longer. The cause ...
... disease fact sheet Inflammatory bowel disease fact sheet Lupus fact sheet Myasthenia gravis fact sheet Stress and ... Office on Women's Health, the Could I Have Lupus? Campaign is raising awareness about lupus and providing ...
Maiwald M, von Herbay A, Relman DA. Whipple's disease. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease . 9th ed. Philadelphia, PA: Saunders ...
Parvovirus B19; Erythema infectiosum; Slapped cheek rash ... Fifth disease is caused by human parvovirus B19. It often affects preschoolers or school-age children during the spring. The disease spreads through the fluids in the nose and ...
Texas Wildlife Services
Some wildlife diseases can be transmitted to humans. This leaflet explains the causes and symptoms of rabies, giardiasis, bubonic plague, Rocky Mountain spotted fever, Lyme disease, tularemia, leptospirosis and histoplasmosis....
... this? Submit What's this? Submit Button Related CDC Web Sites Division for Heart Disease and Stroke Prevention ... this? Submit What's this? Submit Button Related CDC Web Sites Division for Heart Disease and Stroke Prevention ...
Glanzmann's disease is a rare disorder of blood platelets , which results in easy bruising and nosebleeds . ... Glanzmann's disease is caused by the lack of a protein that is normally on the surface of ...
... is called Graves' ophthalmopathy (GO). [ Top ] What is Graves' ophthalmopathy? Graves' ophthalmopathy is a condition associated with Graves' disease that ... may also have bulging eyes, a condition called Graves' ophthalmopathy (GO). Graves' disease is most often treated with ...
... Tools Print this page Get email updates Order publications Volunteer for Clinical Studies Help people who are suffering from hookworm by volunteering for NIAID clinical studies on ClinicalTrials.gov . Related Links Parasitic Roundworm Diseases Laboratory of Parasitic Diseases ...
Eosinophil-associated lung diseases. A cry for surfactant proteins A and D help?
Ledford, Julie G; Addison, Kenneth J; Foster, Matthew W; Que, Loretta G
Surfactant proteins (SP)-A and SP-D (SP-A/-D) play important roles in numerous eosinophil-dominated diseases, including asthma, allergic bronchopulmonary aspergillosis, and allergic rhinitis. In these settings, SP-A/-D have been shown to modulate eosinophil chemotaxis, inhibit eosinophil mediator release, and mediate macrophage clearance of apoptotic eosinophils. Dysregulation of SP-A/-D function in eosinophil-dominated diseases is also not uncommon. Alterations in serum SP-A/-D levels are associated with disease severity in allergic rhinitis and chronic obstructive pulmonary disease. Furthermore, oligimerization of SP-A/-D, necessary for their proper function, can be perturbed by reactive nitrogen species, which are increased in eosinophilic disease. In this review, we highlight the associations of eosinophilic lung diseases with SP-A and SP-D levels and functions. PMID:24960334
A Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene
Duerr, Richard H.; Taylor, Kent D.; Brant, Steven R.; Rioux, John D.; Silverberg, Mark S.; Daly, Mark J.; Steinhart, A. Hillary; Abraham, Clara; Regueiro, Miguel; Griffiths, Anne; Dassopoulos, Themistocles; Bitton, Alain; Yang, Huiying; Targan, Stephan; Datta, Lisa Wu; Kistner, Emily O.; Schumm, L. Philip; Lee, Annette T.; Gregersen, Peter K.; Barmada, M. Michael; Rotter, Jerome I.; Nicolae, Dan L.; Cho, Judy H.
The inflammatory bowel diseases Crohn's disease and ulcerative colitis are common, chronic disorders that cause abdominal pain, diarrhea, and gastrointestinal bleeding. To identify genetic factors that might contribute to these disorders, we performed a genome-wide association study. We found a highly significant association between Crohn's disease and the IL23R gene on chromosome 1p31, which encodes a subunit of the receptor for the proinflammatory cytokine interleukin-23. An uncommon coding variant (rs11209026, c.1142G>A, p.Arg381Gln) confers strong protection against Crohn's disease, and additional noncoding IL23R variants are independently associated. Replication studies confirmed IL23R associations in independent cohorts of patients with Crohn's disease or ulcerative colitis. These results and previous studies on the proinflammatory role of IL-23 prioritize this signaling pathway as a therapeutic target in inflammatory bowel disease. PMID:17068223
Heidi C. Mangelsdorf; Wain L. White; Joseph L. Jorizzo
Background: Behçet's disease is a multisystem disease that is rare in the United States.Objective: The purpose of our study was to assess the characteristics and treatment of a series of patients with Behçet's disease in the United States.Methods: A retrospective clinical review of 25 patients with Behçet's disease was performed, and histopathologic findings and therapeutic modalities were reviewed.Results: All patients
Jones, Roger K.
(Blank P~ge in O .... a1-BUUetinl ? ~" -: . . r ". ./ RICE DISEASES Roger K. Jones * Rice diseases reduce yields in Texas by an average of 12 percent each year. The yield loss in certain fields with a history of disease may exceed 30... percent in some seasons. Disease development in individual fields depends upon the interaction of several factors including the genetic resistance of the variety planted, cropping practices, environmental conditions (such as temperature, dew periods...
Kawasaki, Tomisaku
Short history of Kawasaki disease, clinical features (principal symptoms and other significant symptoms or findings), diagnosis, cardiovascular involvement, epidemiology. Pathological features (lesion of vessels and lesion of organs exclusive of vessels), comparison between infantile periarteritis nodosa (IPN)/Kawasaki disease and classic periarteritis nodosa (CPN), etiology, treatment and management of Kawasaki disease are described. PMID:25792773
Technology Transfer Automated Retrieval System (TEKTRAN)
Concise information about Newcastle disease (ND) is provided for a book that serves as a quick reference guide to the infectious, parasitic, metabolic, nutritional, and toxic diseases of domesticated animals and birds as well some exotic species that a veterinarian might encounter. Newcastle disease...
... are immune. How is fifth disease spread? Fifth disease is spread by coming into contact with saliva or mucus carrying the virus. For example, it can be spread by coughing, sneezing or sharing items. Frequent hand washing may ... Don't worry! Fifth disease is caused by parvovirus, but it isn't ...
Evaluation of Epidemiological Cut-Off Values Indicates that Biocide Resistant Subpopulations Are Uncommon in Natural Isolates of Clinically-Relevant Microorganisms
Morrissey, Ian; Oggioni, Marco Rinaldo; Knight, Daniel; Curiao, Tania; Coque, Teresa; Kalkanci, Ayse; Martinez, Jose Luis
To date there are no clear criteria to determine whether a microbe is susceptible to biocides or not. As a starting point for distinguishing between wild-type and resistant organisms, we set out to determine the minimal inhibitory concentration (MIC) and minimal bactericidal concentration (MBC) distributions for four common biocides; triclosan, benzalkonium chloride, chlorhexidine and sodium hypochlorite for 3319 clinical isolates, with a particular focus on Staphylococcus aureus (N?=?1635) and Salmonella spp. (N?=?901) but also including Escherichia coli (N?=?368), Candida albicans (N?=?200), Klebsiella pneumoniae (N?=?60), Enterobacter spp. (N?=?54), Enterococcus faecium (N?=?53), and Enterococcus faecalis (N?=?56). From these data epidemiological cut-off values (ECOFFs) are proposed. As would be expected, MBCs were higher than MICs for all biocides. In most cases both values followed a normal distribution. Bimodal distributions, indicating the existence of biocide resistant subpopulations were observed for Enterobacter chlorhexidine susceptibility (both MICs and MBCs) and the susceptibility to triclosan of Enterobacter (MBC), E. coli (MBC and MIC) and S. aureus (MBC and MIC). There is a concern on the potential selection of antibiotic resistance by biocides. Our results indicate however that resistance to biocides and, hence any potential association with antibiotic resistance, is uncommon in natural populations of clinically relevant microorganisms. PMID:24466194
Revisiting Mednick's Model on Creativity-Related Differences in Associative Hierarchies. Evidence for a Common Path to Uncommon Thought
Benedek, Mathias; Neubauer, Aljoscha C
Fifty years ago, Mednick [Psychological Review, 69 (1962) 220] proposed an elaborate model that aimed to explain how creative ideas are generated and why creative people are more likely to have creative ideas. The model assumes that creative people have flatter associative hierarchies and as a consequence can more fluently retrieve remote associative elements, which can be combined to form creative ideas. This study aimed at revisiting Mednick's model and providing an extensive test of its hypotheses. A continuous free association task was employed and association performance was compared between groups high and low in creativity, as defined by divergent thinking ability and self-report measures. We found that associative hierarchies do not differ between low and high creative people, but creative people showed higher associative fluency and more uncommon responses. This suggests that creativity may not be related to a special organization of associative memory, but rather to a more effective way of accessing its contents. The findings add to the evidence associating creativity with highly adaptive executive functioning. PMID:24532853
Sundel, Robert P
Kawasaki disease (KD) is the archetypal pediatric vasculitis, exemplifying the unique aspects and challenges of vascular inflammation in children. The condition is almost unheard of in adults, is closely associated with infections, and is self-limited, with fever resolving after an average of 12 days even without treatment. Yet KD is also a potentially fatal disease and the most common cause of acquired heart disease in the developed world. Unraveling of the developmental, immunologic, and genetic secrets of Kawasaki disease promises to improve our understanding of vasculitis in particular, and perhaps also to provide a window on the fundamental mysteries of inflammatory diseases in general. PMID:25399940
Central Nervous System Involvement as Relapse in Undiagnosed Whipple's Disease with Atypical Symptoms at Onset
Zalonis, Ioannis; Christidi, Foteini; Potagas, Constantin; Rentzos, Michalis; Evdokimidis, Ioannis; Kararizou, Evangelia
Whipple's disease (WD) is a rare systemic disease caused by the gram-positive bacillus Tropheryma Whipplei and mostly characterized by arthralgias, chronic diarrhea, weight loss, fever and abdominal pain. Central Nervous System involvement is not uncommon and it may precede other disease manifestations, appear after treatment and improvement of gastrointestinal signs or rarely be the only WD symptom. We report a case in a middle-aged male with unexplained neurological signs and symptoms which were presented as relapse of previously undiagnosed WD with atypical symptoms at onset. After diagnosis confirmation, the patient was appropriately treated which resulted in improvement of major symptoms.
A pediatric non-protein losing Menetrier's disease successfully treated with octreotide long acting release
Nardo, Giovanni Di; Oliva, Salvatore; Aloi, Marina; Ferrari, Federica; Frediani, Simone; Marcheggiano, Adriana; Cucchiara, Salvatore
Pediatric Menetrier's disease (MD) is an uncommon, acute, self-limited hypertrophic gastropathy characterized by enlarged gastric folds associated with epithelial hyperplasia and usually accompanied by protein losing gastropathy. Gastric cytomegalovirus infection is found in one third of MD children and its treatment is often associated with remission. Diagnosis often requires full-thickness biopsy due to inability to detect typical histological findings with conventional endoscopic biopsy. We report an uncommon case of non self-limited pediatric MD needing endoscopic mucosal resection for diagnosis which was then successfully treated with octreotide long-acting release (LAR). To the best of our knowledge, this is the first pediatric MD case successfully treated with octreotide LAR. Our experience suggests octreotide LAR as treatment for refractory MD before gastrectomy. PMID:22690084
Uncommon Infant and Newborn Problems
It can be scary when your baby is sick, especially when it is not an everyday problem like a cold or a fever. You may not know whether the ... treat it. If you have concerns about your baby's health, call your health care provider right away. ...
Perioral dermatitis: an uncommon condition?
Hogan, D J; Epstein, J D; Lane, P R
To document the persistence of perioral dermatitis at dermatology clinics at University Hospital, Saskatoon, we reviewed the charts of all patients with the condition seen between January 1983 and March 1985. Patients with rosacea referred to the clinics during the same period were used as a comparison group. A total of 80 patients with perioral dermatitis and 117 patients with rosacea were seen during the study period; most were female. Those with perioral dermatitis were significantly younger and had a significantly shorter mean duration of the eruption before presentation than those with rosacea (p less than 0.001). The distribution of the lesions was different in the two groups. Sixty-eight (85%) of the patients with perioral dermatitis and 45 (38%) of those with rosacea had used topical corticosteroids, a postulated risk factor for perioral dermatitis; the use of potent topical corticosteroids was frequent in both groups. Despite continuing medical education on the dangers of chronic use of these agents for eruptions on the face, physicians continue to prescribe them. Images Fig. 1 Fig. 2 Fig. 3 PMID:2938708
Roderick Hay; Sandra E. Bendeck; Suephy Chen; Roberto Estrada; Anne Haddix; Tonya McLeod; Antoine Mahé
In assigning health priorities, skin diseases are sometimes thought of, in planning terms, as small-time players in the global league of illness compared with diseases that cause signif- icant mortality, such as HIV\\/AIDS, community-acquired pneu- monias, and tuberculosis. However, skin problems are generally among the most common diseases seen in primary care settings in tropical areas, and in some regions
Nagral, Aabha
Gaucher disease is the commonest lysosomal storage disease seen in India and worldwide. It should be considered in any child or adult with an unexplained splenohepatomegaly and cytopenia which are seen in the three types of Gaucher disease. Type 1 is the non-neuronopathic form and type 2 and 3 are the neuronopathic forms. Type 2 is a more severe neuronopathic form leading to mortality by 2 years of age. Definitive diagnosis is made by a blood test–the glucocerebrosidase assay. There is no role for histological examination of the bone marrow, liver or spleen for diagnosis of the disease. Molecular studies for mutations are useful for confirming diagnosis, screening family members and prognosticating the disease. A splenectomy should not be performed except for palliation or when there is no response to enzyme replacement treatment or no possibility of getting any definitive treatment. Splenectomy may worsen skeletal and lung manifestations in Gaucher disease. Enzyme replacement therapy (ERT) has completely revolutionized the prognosis and is now the standard of care for patients with this disease. Best results are seen in type 1 disease with good resolution of splenohepatomegaly, cytopenia and bone symptoms. Neurological symptoms in type 3 disease need supportive care. ERT is of no benefit in type 2 disease. Monitoring of patients on ERT involves evaluation of growth, blood counts, liver and spleen size and biomarkers such as chitotriosidase which reflect the disease burden. Therapy with ERT is very expensive and though patients in India have so far got the drug through a charitable access programme, there is a need for the government to facilitate access to treatment for this potentially curable disease. Bone marrow transplantation is an inferior option but may be considered when access to expensive ERT is not possible. PMID:25755533
NSDL National Science Digital Library
Dr. Leslie Nader (MSMR)
A little microorganism called a spirochete causes Lyme disease, which can cause extremely severe symptoms, including neck stiffness, acute headaches, neurological damage, and rheumatoid arthritis-like problems. Lyme disease is transmitted by ticks and so is tied to the ticks' life cycle. Lyme disease is also seen by veterinarians, largely in dogs, for whom it can be fatal. Lyme research is ongoing on numerous fronts.
NSDL National Science Digital Library
This activity (on pages 35-43) lets learners analyze a "herd of elk" to detect the spread of a bacterial disease called brucellosis. The activity simulates how wildilfe veterinarians study elk in the wild by sampling only a subset of the animals. Based on a brucellosis problem with elk in Yellowstone National Park, learners cut out representations for two herds and then pick some at random to "test" for disease (denoted as a plus sign on a diseased animal). The results indicate that elk fed in Wyoming over the winter have more disease than the wild elk that go north to Montana
Farrugia, M.; Howlett, D. C.; Saks, A. M.
Moyamoya disease is a rare cerebrovascular condition of uncertain aetiology commonly affecting young persons. The disease is mainly seen in Japanese patients. We report two cases of moyamoya disease in Caucasian women and review the postulated aetiological factors and associated conditions as well as the spectrum of invasive and non-invasive imaging modalities useful in the diagnosis and follow-up of the disease, with particular reference to the developing role of magnetic resonance imaging and angiography. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 PMID:9373593
Finkbeiner, Steven
Huntington's disease (HD) is the most common inherited neurodegenerative disease and is characterized by uncontrolled excessive motor movements and cognitive and emotional deficits. The mutation responsible for HD leads to an abnormally long polyglutamine (polyQ) expansion in the huntingtin (Htt) protein, which confers one or more toxic functions to mutant Htt leading to neurodegeneration. The polyQ expansion makes Htt prone to aggregate and accumulate, and manipulations that mitigate protein misfolding or facilitate the clearance of misfolded proteins tend to slow disease progression in HD models. This article will focus on HD and the evidence that it is a conformational disease. PMID:21441583
Gross, L; Massberg, S; Sibbing, D
Knowledge of rare but important clinical disease symptoms in cardiology is of vital importance in the daily routine as severe courses of disease as well as death may be prevented by early diagnosis, effective monitoring and timely initiation of an adequate therapy. In this article an important rhythmological disease, arrhythmogenic right ventricular cardiomyopathy, as well as two significant structural diseases, takotsubo (stress-related) cardiomyopathy and aortic aneurysm related to Marfan syndrome, as well as their implications for clinical practice will be presented. PMID:24005787
... information on enabling JavaScript. Lyme Disease Skip Content Marketing ... mysterious group of rheumatoid arthritis cases occurred among children in Lyme, Connecticut, and two neighboring towns. Puzzled, ...
Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases
Kingsmore, Stephen
Of 7,028 disorders with suspected Mendelian inheritance, 1,139 are recessive and have an established molecular basis. Although individually uncommon, Mendelian diseases collectively account for ~20% of infant mortality and ~18% of pediatric hospitalizations. Molecular diagnostic testing is currently available for only ~300 recessive disorders. Preconception screening, together with genetic counseling of carriers, has resulted in remarkable declines in the incidence of several severe recessive diseases including Tay-Sachs disease and cystic fibrosis. However, extension of preconception screening and molecular diagnostic testing to most recessive disease genes has hitherto been impractical. Recently, we reported a preconception carrier screen / molecular diagnostic test for 448 recessive childhood diseases. The current status of this test is reviewed here. Currently, this reports analytical validity of the comprehensive carrier test. As the clinical validity and clinical utility in the contexts described is ascertained, this article will be updated. PMID:22872815
Restrictive lung disease in pregnancy.
King, T E
Restrictive ventilatory defects characterized by a reduction in lung volumes and an increase in the ratio of forced expiratory volume in 1 second to forced vital capacity occur when lung expansion is limited because of alterations in the lung parenchyma or because of abnormalities in the pleura, chest wall, or neuromuscular apparatus. Few studies have examined pregnant women with carefully defined restrictive lung disorders. The majority of pulmonary diseases have their onset after the childbearing years. When present, most do not alter fertility. Further, these disorders are only a relative contraindication to pregnancy because both the fetus and mother are able to survive without a high risk of increased morbidity or mortality. The clinical course of sarcoidosis is generally not altered by pregnancy. Factors indicative of a poor prognosis in sarcoidosis and pregnancy include parenchymal lesions on chest radiography, advanced roentgenologic staging, advanced maternal age, low inflammatory activity, requirement for drugs other than corticosteroids, and the presence of extrapulmonary sarcoidosis. Pregnancy seldom has a significant effect on the course of the connective tissue diseases. In PSS with significant renal involvement, pregnancy has the potential for poor fetal prognosis and the risk of maternal death due to a lethal progression of renal failure. Worsening of SLE is uncommon in pregnancy, and prophylactic therapy is generally not necessary. Most women with LAM are advised to avoid pregnancy or the use of estrogens because of the concern that it will lead to worsening of their disease. The incidence of kyphoscoliosis in pregnancy is relatively high. Premature birth rates are higher than that in the normal population. The risk of progression of the abnormal curve in a scoliotic patient appears low. However, women with unstable scolioses at the time of pregnancy can demonstrate progression of the curve with the pregnancy. Respiratory complications during pregnancy in patients with kyphoscoliosis have been reported but in general are not serious if appropriately managed. As a rule, patients with severe restrictive lung disease (i.e., vital capacity < 1 L) should be advised to avoid pregnancy or consider therapeutic abortion. If such a patient decides to continue the pregnancy she should be provided with optimal medical management of her underlying disease and should consider delivery by cesarean section. PMID:1478021
Primary Crohn's disease of the colon and rectum 1
Cornes, J. S.; Stecher, Mette
Crohn's disease of the large bowel has been increasingly recognized and this paper presents a clinical and pathological study of 45 patients in whom the disorder was confined entirely to the large intestine. The clinical and pathological factors are contrasted with those of 86 patients with regional ileitis and of 200 patients with ulcerative colitis. Compared with regional ileitis the disease occurred in an older age group, had a different sex distribution, and a higher incidence of perianal and rectovaginal fistulae. A high incidence of recurrent disease following surgical treatment, found in the patients with regional ileitis, was not found in the patients with primary Crohn's disease of the large intestine. The incidence of the disease relative to ulcerative colitis was approximately 6%. The disease had the same sex distribution as ulcerative colitis but occurred in an older age group. The disease was usually of gradual onset and continuous course, and periods of freedom lasting a month or more were uncommon. The patients came to surgery much earlier than patients with ulcerative colitis. ImagesFIG. 1FIG. 2FIG. 3FIG. 4FIG. 5FIG. 6FIG. 7FIG. 8FIG. 9 PMID:13881392
Hemolytic uremic syndrome associated with glomerular disease.
Siegler, R L; Brewer, E D; Pysher, T J
Secondary hemolytic uremic syndrome (HUS) is uncommon. When it occurs, it is usually in association with pregnancy, malignancy, severe hypertension, drugs, or collagen vascular diseases. It has rarely been reported in patients with glomerular disease. Two such patients with secondary HUS are described. A 17-month-old girl with hematuria and the nephrotic syndrome, negative antistreptolycin O (ASO) titer, and low serum levels of C3 and C4 developed oliguria, progressive azotemia, thrombocytopenia, and microangiopathic hemolytic anemia. A kidney biopsy showed fibrin in glomerular capillaries and cresentic membranoproliferative glomerulonephritis. A 22-year-old man with a 16-year history of relapsing minimal change nephrotic syndrome had been in remission for 5 years when he experienced nephrotic syndrome relapse and developed thrombocytopenia, microangiopathic hemolytic anemia, and renal failure. A kidney biopsy revealed foot process fusion and obstruction of glomerular capillaries with fibrin and platelets. These cases illustrate that HUS can occur in association with other glomerular diseases and should be considered when thrombocytopenia and hemolytic anemia occur in a nephritic or nephrotic patient. PMID:2916569
Secondary causes of nonalcoholic fatty liver disease
Kneeman, Jacob M.; Misdraji, Joseph
Nonalcoholic fatty liver disease (NAFLD) is becoming the most common cause of chronic liver disease in the developing world, found in 17-30% of the population in Western countries and 2-4% worldwide. Defined as the accumulation of fatty acid content greater than 5% of liver weight, NAFLD is a spectrum of disease ranging from simple steatosis to nonalcoholic steatohepatitis. The pathophysiology of NAFLD involves increased de novo synthesis of fatty acids in hepatocytes, the retention of lipids due to impaired hepatocyte apolipoprotein secretion or beta-oxidation. The well-known primary causes of NAFLD are obesity, type II diabetes, dyslipidemia, and insulin resistance. However, other less common conditions can cause a similar clinical and histologic picture, and should be considered in patients who present with NAFLD but do not have traditional risk factors. In this review, we discuss uncommon but important causes of NAFLD, including inborn errors of metabolism, iatrogenic causes, viral hepatitis, and nutritional disorders to provide practicing clinicians with an understanding of the less well recognized causes of NAFLD. PMID:22570680
A. L. James; M. A. Thorp
INTRODUCTION: Meniere's disease causes recurrent vertigo, hearing loss, tinnitus, and fullness or pressure in the ear, which mainly affects adults aged 40-60 years. Meniere's disease is at first progressive but fluctuating, and episodes can occur in clusters. Vertigo usually resolves but hearing deteriorates, and symptoms other than hearing loss and tinnitus usually improve regardless of treatment. METHODS AND OUTCOMES: We
Philip A. Kalra
In Western populations, fibromuscular disease (FMD) accounts for around 10% of all cases of renal artery stenosis (RAS), usually presenting as hypertension in young patients, most often women, and there is often a successful response after angioplasty. Atherosclerotic renovascular disease (ARVD) is very common, and accounts for the remaining 90% of cases of RAS. ARVD is frequently associated with hypertension
Cécile Tissot; Christina M. Phelps; Eduardo M. da Cruz; Shelley D. Miyamoto
\\u000a Pericardial diseases are defined as structural or functional abnormalities of the visceral or parietal pericardium that may\\u000a or may not have an impact on cardiac function. Diseases of the pericardium include a spectrum of acquired and congenital problems\\u000a consisting of infectious and inflammatory processes, neoplastic lesions, as well as congenital structural defects.
Ala, Aftab; Walker, Ann P; Ashkan, Keyoumars; Dooley, James S; Schilsky, Michael L
Progressive hepatolenticular degeneration, or Wilson's disease, is a genetic disorder of copper metabolism. Knowledge of the clinical presentations and treatment of the disease are important both to the generalist and to specialists in gastroenterology and hepatology, neurology, psychiatry, and paediatrics. Wilson's disease invariably results in severe disability and death if untreated. The diagnosis is easily overlooked but if discovered early, effective treatments are available that will prevent or reverse many manifestations of this disorder. Studies have identified the role of copper in disease pathogenesis and clinical, biochemical, and genetic markers that can be useful in diagnosis. There are several chelating agents and zinc salts for medical therapy. Liver transplantation corrects the underlying pathophysiology and can be lifesaving. The discovery of the Wilson's disease gene has opened up a new molecular diagnostic approach, and could form the basis of future gene therapy. PMID:17276780
Lee, Young-Mock
Mitochondria contain the respiratory chain enzyme complexes that carry out oxidative phosphorylation and produce the main part of cellular energy in the form of ATP. Although several proteins related with signalling, assembling, transporting, and enzymatic function can be impaired in mitochondrial diseases, most frequently the activity of the respiratory chain protein complexes is primarily or secondarily affected, leading to impaired oxygen utilization and reduced energy production. Mitochondrial diseases usually show a chronic, slowly progressive course and present with multiorgan involvement with varying onset between birth and late adulthood. Neuromuscular system is frequently affected in mitochondrial diseases. Although there is actually no specific therapy and cure for mitochondrial diseases, the understanding of the pathophysiology may further facilitate the diagnostic approach and open perspectives to future in mitochondrial diseases. PMID:24649452
[Hibernoma and cervical rib: two rare diseases, the same manifestation].
Antunes, J; Santos, S; Andrade, N; Simőes, F; Salgado, C
The hibernoma is a rare benign tumor of soft tissue, derived from remnants of fetal brown adipose tissue. A cervical rib is a supernumerary or accessory rib derived from the 7th cervical vertebra. CLINCAL CASE: 2-year-old girl, previously healthy, referenced to Pediatrics consultation, for left supraclavicular mass. No history of infectious diseases or systemic symptoms. At exam presented mass in supraclavicular left region, 1.5 to 2 cm in diameter, hard, mobile, non-adherent to the deep planes. Laboratory tests exclude an infectious or lymphoproliferative disease. In cervical radiograph we observed bilateral cervical ribs. Cervical ultrasound revealed calcified nodule 0.8 cm, compatible with calcified adenopathy. Biopsy was performed and histology revealed a hibernoma, which was completely removed surgically. This case illustrates the association of two diagnoses, uncommon in children. These were made during the investigation of lymphadenopathies, a frequent reason for pediatrics consultation. PMID:24482907
Adult-onset Still's disease in a Nigerian woman.
Akintayo, Richard Oluyinka; Adelowo, Olufemi
Adult-onset Still's disease (AOSD) is an uncommon systemic inflammatory disorder of unknown aetiology. Although there have been reports and series elsewhere, there have been very few such reports on black Africans. The rarity of the reporting of this disease has been associated with a low index of suspicion and hence delayed diagnosis in patients suffering from it. We report a case of a 28-year-old woman, a teacher, who had been repeatedly treated for malarial fever over a 2-month period. She was also briefly managed elsewhere for systemic lupus erythematosus due to a persistent fever with associated polyarthralgia, sore throat, rash and high erythrocyte sedimentation rate. On presentation to our facility, she fulfilled the Yamaguchi criteria for AOSD and had a markedly elevated serum ferritin level. She was successfully managed with etanercept and methotrexate. This is the first report of AOSD from Nigeria. PMID:26150646
Rivastigmine in the treatment of hypersexuality in Alzheimer disease.
Canevelli, Marco; Talarico, Giuseppina; Tosto, Giuseppe; Troili, Fernanda; Lenzi, Gian Luigi; Bruno, Giuseppe
Inappropriate sexual behaviors (ISB) represent uncommon and often misdiagnosed clinical disorders among patients with Alzheimer disease. So far, no randomized clinical trials regarding the treatment of ISB in demented people have been conducted, but available data from case series and isolated case reports suggest the efficacy of selective serotonin reuptake inhibitors (SSRIs), antipsychotics, antiandrogens, and H2-receptor antagonists. Controversial data exist on the therapeutic influence of cholinesterase inhibitors on sexual disorders. In the present article, we describe the case of an Alzheimer disease patient presenting hypersexuality, successfully treated with rivastigmine. Thus, we perform a revision of the existing literature regarding the therapeutical effect of cholinesterase inhibitors in the treatment of ISB. PMID:22683665
Infectious bursal disease (Gumboro disease).
van den Berg, T P; Eterradossi, N; Toquin, D; Meulemans, G
Infectious bursal disease (IBD) (Gumboro disease) has been described throughout the world, and the socio-economic significance of the disease is considerable world-wide. Various forms of the disease have been described, but typing remains unclear, since antigenic and pathotypic criteria are used indiscriminately, and the true incidence of different types is difficult to determine. Moreover, the infection, when not fatal, leads to a degree of immunosuppression which is often difficult to measure. Finally, the control measures used are subject to variations, and seldom follow a specific or standardised plan. In the context of expanding international trade, the authors provide an overview of existing knowledge on the subject to enhance available information on the epidemiology of IBD, the identification of reliable viral markers for diagnosis, and the implementation of specific control measures to ensure a global and co-ordinated approach to the disease. PMID:10935278
Wortham, Noel C; Tomlinson, Ian Pm
Dercum's disease (adiposis dolorosa, lipomatosis dolorosa morbus Dercum), is a rare disorder resulting in painful fatty deposits around the upper legs, trunk, and upper arms. The portrait painted of Dercum's disease is very complicated, with many other disorders seen associated with the disease. There are no clear pathological mechanisms known, although it is suspected that there is either a metabolic or autoimmune component involved. Here, the authors review the literature to date, including some information from their own studies. In particular, the authors will look at the different strands of evidence pointing to the pathological mechanism of the disorder. PMID:15891252
Ahmad S. Abdulkarim; Joseph A. Murray
Opinion statement \\u000a \\u000a \\u000a \\u000a \\u000a – \\u000a \\u000a Individuals with celiac disease present with a wide array of symptoms and signs. Celiac disease can result in substantial\\u000a injury to the small intestine, deleterious effects on other organ systems, and an overall doubling of mortality. The role\\u000a of the gastroenterologist is primarily to make the diagnosis and then to ensure that patients with celiac disease receive
... genetic terms used on this page. Learning About Dercum Disease What is Dercum disease? What are the ... Disease Additional Resources for Dercum Disease What is Dercum disease? Dercum disease - also known as Adiposis Dolorosa, ...
... in copper, such as shellfish liver mushrooms nuts chocolate People should not eat these foods during the ... in copper, such as shellfish liver mushrooms nuts chocolate A person cannot prevent Wilson disease; however, people ...
... do not produce enough corticosteroid hormones, such as cortisol and aldosterone. Addison's disease is most common among ... making. If your body is not making enough cortisol, your doctor may prescribe hydrocortisone, prednisone, or cortisone ...
Digestive diseases are disorders of the digestive tract, which is sometimes called the gastrointestinal (GI) tract. In digestion, food and drink are broken down into small parts (called nutrients) ...
... NCL, the neurologist needs the individual's medical and family history and information from various laboratory tests. Diagnostic tests used for NCLs include: blood or urine tests . These tests can detect abnormalities that may indicate Batten disease. For example, elevated ...
... gene with an eye toward understanding how it causes disease in the human body. What research is being done? Scientific investigations using electronic and other technologies enable scientists to see what the defective gene ...
... The knowledge gained from these studies is advancing scientific understanding of why kidney diseases and urinary tract disorders develop and is leading to improved methods of diagnosing, treating, and preventing them. Clinical trials ...
... the lungs to take in oxygen and release carbon dioxide. People with this type of lung disorder often ... the lungs to take up oxygen and release carbon dioxide. These diseases may also affect heart function. An ...
... is called hyperthyroidism. (An underactive thyroid leads to hypothyroidism .) Graves disease is the most common cause of ... radioactive iodine usually will cause an underactive thyroid (hypothyroidism). Without getting the correct dosage of thyroid hormone ...
Peter H. R. Green; Christophe Cellier
Celiac disease is induced by the ingestion of gluten, which is derived from wheat, barley, and rye. The gluten protein is enriched in glutamine and proline and is poor- ly digested in the human upper gastrointestinal tract. The term \\
... is responsible for the core features, other affected locations contribute to the complicated picture of Parkinson's. Parkinson's disease is both chronic, meaning it lasts for a long time, and progressive, ...
... that accumulate in non-neuronal cells of the brain called astrocytes. Rosenthal fibers are sometimes found in other disorders, but not in the same amount or area of the brain that are featured in Alexander disease. The infantile ...
... that affects the entire body, like diabetes or lupus. Many different kinds of diseases can cause swelling ... may affect only specific organs or regions. Systemic lupus erythematosus (SLE) affects many parts of the body: ...
... smooth and consistent in color. Specific types of nail discoloration and changes in growth rate can be signs of lung, heart, kidney, and liver diseases, as well as diabetes and anemia. White spots ...
ERIC Educational Resources Information Center
Gabel, Medard
To solve societal problems, both local and global, a global approach is needed. Serious diseases that are crippling present-day problem solving and planning are discussed, and the characteristics of a healthy, effective planning approach are described. (RM)
... message, please visit this page: About CDC.gov . Parasites - Leishmaniasis Parasites Home Share Compartir Disease Ulcerative skin lesion, with ... with some of the species (types) of the parasite that cause cutaneous leishmaniasis in parts of Latin ...
... brain responsible for making myelin sheaths, known as oligodendrocytes, cannot properly complete this critical developmental task. Myelin ... support for nerve cells. In Canavan disease, many oligodendrocytes do not mature and instead die, leaving nerve ...
Kovács, T; Besznyák, I; Köves, I; Petri, K
Three cases of Ormond's disease (syndrome) are described, and the aetiopathogenesis, clinical picture and diagnostics of the disease are dealt with in this report. Besides, the traditional therapy and the new therapeutic possibilities are discussed. For a disease of low incidence and assumed autoimmune origin malignancy cannot be excluded. Therefore, surgical exploration and histological verification are indispensable interventions in every case of Ormond's disease. In two of the present cases, steroid was administered in defence of percutaneous nephrostomy. In two cases, the recently recommended anti-oestrogen therapy was successful. Stagnation, or even regression, of the process followed. The authors are sure that they were the first in Hungary to administer anti-oestrogen to patients suffering from IFR. PMID:9262733
... pretty frightening, Sever's disease is really a common heel injury that occurs in kids. It can be ... inflammation (swelling) of the growth plate in the heel. A growth plate, also called an epiphyseal plate, ...
... Topics Cardiac Catheterization Chest X Ray Echocardiography Electrocardiogram Vasculitis Send a link to NHLBI to someone by ... disease. It's a form of a condition called vasculitis (vas-kyu-LI-tis). This condition involves inflammation ...
... harmful substances to build up in the liver, spleen, bones, and bone marrow. These substances prevent cells ... common. It involves bone disease, anemia, an enlarged spleen and low platelets (thrombocytopenia). Type I affects both ...
... Tools Print this page Get email updates Order publications Volunteer for Clinical Studies Help people who are suffering from whipworm by volunteering for NIAID clinical studies on ClinicalTrials.gov . Related Links Parasitic Roundworm Diseases National Library of Medicine, ...
... information on enabling JavaScript. Pneumococcal Disease Skip Content Marketing Share this: Main Content Area Streptococcus Pneumoniae Streptococcus pneumoniae are bacteria frequently found in the upper respiratory tract of healthy children and adults. These bacteria, however, can also cause ...
... laboratories at the NIH and also supports additional research through grants to major medical institutions across the country. NIH Patient Recruitment for Krabbe Disease Clinical Trials At NIH Clinical Center Throughout the U.S. ...
... laboratories at the NIH and also supports additional research through grants to major medical institutions across the country. NIH Patient Recruitment for Sandhoff Disease Clinical Trials At NIH Clinical Center Throughout the U.S. ...
Sharon R. Schatz
Although diabetes mellitus, cardiovascular disease, and human immunodeficiency virus infection are three separate entities,\\u000a each has causal and non-causal risk factors that are common in the stage 5 chronic kidney disease population. The medical\\u000a nutrition therapies are similar, which emphasize adequate protein and energy intakes, fluid control, and possibly carbohydrate\\u000a and fat modifications. Each patient requires an individualized evaluation, taking
Iee-Ching Wu Anderson; John P. Carey; Walter Kutz; William H. Slattery
A computerized PubMed search of MEDLINE 1966-May 2005 was performed. The terms "Meniere disease" and "gentamicin" were exploded,\\u000a and the resulting articles were combined. The terms "intratympanic" and "transtympanic" were entered as text words as the\\u000a search term "intratympanic OR transtympanic," and the results were combined with the Méničre disease\\/gentamicin articles.\\u000a The resulting 136 articles were limited to the English
Sheila E. Crowe
Celiac disease, also known as celiac sprue or gluten-sensitive enteropathy, is a chronic disorder that is readily recognized\\u000a when it presents in its classical form with diarrhea, bloating, flatulence, weight loss and evidence of malabsorption. However,\\u000a non-gastrointestinal GI and non-specific GI manifestations are currently the more common presentations of this disease. Withdrawal\\u000a of gluten from the diet results in a
Debbie Williamson; Michael N. Marsh
Clinically, celiac disease has always been regarded as a wasting, malabsorptive disorder due to disease of the small intestinal\\u000a mucosa. It has been difficult for clinicians to recognize that this condition is primarily due to sensitization of mesenteric\\u000a T lymphocytes to wheat protein (gluten) in genetically predisposed (DQ2+) individuals. On contact with dietary-derived gluten in the upper intestine, these sensitized
Simon H. S. Pearce
Hyperthyroid Graves' disease is one of the commonest autoimmune disorders, affecting about 1% of women. It is most frequent\\u000a in the 4th decade of life. There is a genetic predisposition to Graves' disease, determined by alleles at the major histocompatibility\\u000a complex (MHC), cytotoxic T-lymphocyte-associated antigen (CTLA-4), protein tyrosine phosphatase non-receptor 22 (PTPN22), and other less well-defined chromosomal loci. Additional, non-genetic,
Br?ha, R; Marecek, Z; Martásek, P; Nevsímalová, S; Petrtýl, J; Urbánek, P; Kalistová, H; Pospísilová, L
Wilson's disease is an inherited disorder leading to accumulation of copper in tissues, mainly in the liver and brain. Genetic defect is in the gene coding ATPase type P (ATP7B). The inheritance is autosomal recessive. Up to now, more then 500 mutations causing Wilson's disease were described. The most frequent mutation in Central Europe is mutation H1069Q. The manifestation of Wilson's disease is usually hepatic or neurologic. Hepatic form is manifested by acute or chronic hepatitis, steatosis or cirrhosis. Neurologic involvement is manifested usually after 20 year of age by motor disturbances (tremor, disturbed speech, problems with writing), which could progress into severe extrapyramidal syndrome with tremor, rigidity, dysartria, dysfagia and muscle contracture. Diagnosis is based on clinical and laboratory examinations (neurologic symptoms, liver disease, low serum ceruloplasmin levels, elevated free copper concentration in serum, high urine copper excretion, and presence of Kayser-Fleischer rings). Confirmation of diagnosis is done by hepatic copper concentration in liver biopsy or by genetic examination. Untreated disease leads to the death of a patient. Treatment is based on chelating agents decreasing the copper content by excretion into urine (D-penicillamine, trientine) or on agents preventing absorption of copper from food (zinc, ammonium-tetrahiomolybdene). Patients with asymptomatic Wilson's disease have to be treated as well. In Czech Republic either penicillamine or zinc are used. Liver transplantation is indicated in patients with fulminant liver failure or decompensated cirrhosis. Screening in families of affected patients (all siblings) is obvious. PMID:20662462
Shankar, P R; Subish, P
Convincing healthy people that they are sick and require medicines can enormously expand the market. Disease mongering can turn ordinary ailments like baldness into medical problems, consider risk factors such as hypertension and osteoporosis as diseases and frame prevalence estimates to increase potential markets. In Asia, conditions like erectile dysfunction, male pattern baldness, attention deficit hyperactivity disorder and irritable bowel syndrome, and the drugs to treat them, are widely promoted. Fairness creams and traditional medicines are also widely used. The cost of disease mongering to the individual and the community is expected to be high. Some authors have argued that medicalisation of illnesses may not be a problem and the real problem may be the lack of medicines. Doctors will play a key role in combating disease mongering. Disentanglement from the pharmaceutical industry and development of a capacity for critical analysis are required. Educating patients and empowering them to make decisions are important. Several initiatives have been undertaken to combat disease mongering. Initiatives at the level of the patient and the physician are especially important. Studies on the extent and knowledge of disease mongering among doctors and medical students, and their economic and social consequences are urgently required. PMID:17384871
Paediatric Behçet's disease presenting with recurrent papillitis and episcleritis: a case report
Introduction Behçet's disease is a chronic multisystem vasculitis characterized by mucocutaneous, articular, neurological, gastrointestinal and ophthalmological lesions. Ocular involvement is mainly represented by recurrent uveitis, especially posterior uveitis; however, iridocyclitis, retinal and choroidal vasculitis, optic neuritis and retinal vascular occlusion can also occur. Case presentation A 12-year-old Caucasian boy with a history of recurrent buccal aphthosis and nonspecific gastrointestinal symptoms was admitted to our hospital with blurred vision associated with acute episcleritis and papillitis. The patient's pathergy test was positive, suggesting a diagnosis of Behçet's disease. Corticosteroid and cyclosporine therapy was started, but further episodes were noted in both eyes. The patient was then switched to intravenous infliximab, with complete resolution of the inflammation after the second infusion. Conclusion Episcleritis and papillitis should be added to the list of uncommon manifestations of pediatric Behçet's disease. Infliximab is an effective, new therapeutic approach for Behçet's disease that is refractory to the conventional corticosteroid and immunosuppressive therapy. PMID:21352523
Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing
Kingsmore, Stephen F; Dinwiddie, Darrell L; Miller, Neil A; Soden, Sarah E; Saunders, Carol J
Orphan diseases are individually uncommon but collectively contribute significantly to pediatric morbidity, mortality and healthcare costs. Current molecular testing for rare genetic disorders is often a lengthy and costly endeavor, and in many cases a molecular diagnosis is never achieved despite extensive testing. Diseases with locus heterogeneity or overlapping signs and symptoms are especially challenging owing to the number of potential targets. Consequently, there is immense need for scalable, economical, rapid, multiplexed diagnostic testing for rare Mendelian diseases. Recent advances in next-generation sequencing and bioinformatic technologies have the potential to change the standard of care for the diagnosis of rare genetic disorders. These advances will be reviewed in the setting of a recently developed test for 592 autosomal recessive and X-linked diseases. PMID:22022947
Suzuki Kurokawa, M; Suzuki, N
Behcet's disease (BD) is a systemic disorder of recurrent acute inflammation, characterized by major symptoms of oral aphthous ulcers, uveitis, skin lesions and genital ulcers. Involvement of intestines, vessels, and central nervous system (CNS) sometimes leads to a poor prognosis. Patients with BD are known to distribute along the ancient Silk Road. The incidence is relatively higher from eastern Asia to the Mediterranean area as roughly 1-10 patients in 10,000 people, whereas only 1-2 patients in 1,000,000 people in UK and North America. Although etiology of the disease is still unknown, high prevalence of HLA-B51, increased expression of heat shock protein 60 and Th1 dominant immune responses in the patients are considered important in its pathogenesis. Non-infectious neutrophil activation and infection with Streptococcus sanguis and herpes simplex virus would also be associated. Because BD lacks any pathognomonic symptoms and laboratory findings, the diagnosis relies largely upon the criteria proposed by the International Study Group for Behcet's disease in 1990. In Japan, the diagnosis was also made according to the Japanese criteria revised in 1987. Recently, the Behcet's Disease Research Committee of Japan again revised the Japanese criteria in 2003 to avoid overdiagnosis. The new Japanese criteria are introduced in this review. Differential diagnosis excluding Sweet's disease, pemphigus, erythema nodosum and Crohn's disease is important, and positive laboratory data for pathergy test, prick test for dead Streptococci and HLA-B51 are emphasized to make appropriate diagnosis in these criteria. Pathological findings of the disease-affected site such as erythematous nodosum is also stressed. Treatment for the disease has been chosen according to the clinical symptoms. Non-steroidal anti-inflammatory drugs, immunosuppressants, corticosteroids and colchicine are basically introduced. Recently, effects of interferon-alpha/beta, anti-tumor necrosis factor antibody and thalidomide are encouraging, specifically in treatment for the cases with poor prognosis including eye, intestine, vessel and CNS involvement. Low dose weekly administration of methotraxate looks effective for the cases with CNS involvement. Further studies for elucidation of the etiology, improvement of the diagnostic criteria and development of new therapy are needed to conquer the disease. PMID:15598081
Loudianos, G; Lepori, M B; Mameli, E; Dessě, V; Zappu, A
(Full text is available at http://www.manu.edu.mk/prilozi). Wilson's disease (WD) is a disorder of copper transport resulting from the defective function of a copper transporting P-type ATPase, ATP7B. The WD incidence is approximately 1/50-10,000 live births worldwide. Clinical manifestations of WD may be of any kind, but usually the symptoms of presentation are hepatic or neuropsychiatric, with a vast range of disturbances for both groups of symptoms. In children, however, clinical symptoms may be absent, making the diagnosis of the disease more difficult than in adults. Hepatic manifestations may range from asymptomatic minor biochemical disturbances, to acute, but mostly chronic, hepatitis, cirrhosis or severe fulminant hepatic failure. The spectrum of neurological manifestations is wide, including tremor, hypersalivation, Dysarthria, coordination defects, dystonia, ataxia. The spectrum of psychiatric manifestations is considerable and may include different disturbances such as altered working performance, anxiety, depression and antisocial behaviour. Kayser-Fleischer rings (KF) are present in 95% of patients with neurological symptoms and somewhat over half of those without neurological symptoms. In children presenting with liver disease, KF rings are usually absent. To obtain a more reliable diagnosis of WD, the Leipzig scoring system was proposed by an international consensus of experts. Wilson's disease copper overload is treated with chelating agents such as penicillamine, trientine and tetrathiomolybdate. Zinc is used mostly for mantainance therapy or the treatment of asymptomatic WD patients. Key words: Wilson diseases, copper, cirrhosis, children. PMID:24798599
El-Abassi, Rima; Singhal, Divya; England, John D
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in ?-galactosidase A. The abnormal accumulation of glycosphingolipids, primarily globotriaosylceramide, manifests as serious and progressive impairment of renal and cardiac functions. In addition, patients experience pain, gastrointestinal disturbance, transient ischemic attacks and strokes. Disease presentation in female heterozygotes may be as severe as in males although women may also remain asymptomatic. This review covers all basic aspects of the disease such as epidemiology, pathophysiology, clinical presentation by systems, diagnosis, management, prevention, and repercussions on quality of life. With the development of enzyme replacement therapy in the past few years, early initiation of treatment was found to be key for reduction of disease burden in major affected organs with improvement in neuropathic pain, decreased cardiac mass and stabilization of renal function, gastrointestinal symptoms, and hearing. This review aims to raise the awareness of the signs and symptoms of Fabry's disease as well as to provide guidelines for the diagnosis and treatment. PMID:25106696
Laeeq, Syed Mudassir; Luck, Nasir Hassan; Hassan, Syed Mujahid; Abbas, Zaigham; Tasneem, Abbas Ali; Mubarak, Muhammed
Whipple's disease is a rare chronic multi-systemic infection, caused by Gram-positive bacillus Tropheryma whipplei. The infection usually involves the small bowel, but other organs may also be involved. The diagnosis is often challenging and can only be made on histopathological examination. This report describes 2 patients presenting with abdominal pain and weight loss who finally were diagnosed to have Whipple's disease. One of the patients was a renal transplant recipient. To the best of authors' knowledge, no case of Whipple's disease has yet been reported in Pakistan. The diagnosis were made on the basis of histopathological evaluation of duodenal biopsies. The cases underscore the need for diligent histopathological evaluation of the upper gastrointestinal biopsies and a high index of suspicion for an accurate diagnosis of the condition. The approach to the diagnosis and management of the condition is discussed. PMID:24906280
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Patient Education Institute
This patient education program explains Crohn's Disease, one of the most common inflammatory bowel diseases, including the symptoms, diagnosis, and treatment options. It also reviews the anatomy of the gastrointestinal system, causes of the disease, dietary triggers, and pregnancy in the Crohn's patient. This resource is a MedlinePlus Interactive Health Tutorial from the National Library of Medicine, designed and developed by the Patient Education Institute. NOTE: This tutorial requires a special Flash plug-in, version 4 or above. If you do not have Flash, you will be prompted to obtain a free download of the software before you start the tutorial. You will also need an Acrobat Reader, available as a free download, in order to view the Reference Summary.
Huang, Yen-Lin; Chen, Chi-Jen
Hirayama disease (juvenile muscular atrophy of distal upper extremity) is a cervical myelopathy. Predominantly affecting male adolescents, it is characterized by progressive muscular weakness and atrophy of distal upper limbs, followed by spontaneous arrest within several years. Although the cause of cervical myelopathy remains unclear, neuropathologic and neuroradiologic findings suggest a forward displacement of the posterior cervical dural sac during neck flexion, causing compression of the cervical cord, and results in atrophic and ischemic changes in the anterior horn. A good understanding of Hirayama disease is essential because early recognition and management can effectively halt the progressive deterioration. PMID:22032508
Kontogiannis, V; Powell, R
Behçet's disease is a systemic vasculitis of unknown aetiology characteristically affecting venules. Onset is typically in young adults with recurrent oral and genital ulceration, uveitis, skin manifestations, arthritis, neurological involvement, and a tendency to thrombosis. It has a worldwide distribution but is prevalent in Japan, the Middle East, and some Mediterranean countries. International diagnostic criteria have been proposed, however diagnosis can be problematical, particularly if the typical ulcers are not obvious at presentation. Treatment is challenging, must be tailored to the pattern of organ involvement for each patient and often requires combination therapies.???Keywords: Behçet's disease; oral ulcers; uveitis; immunosuppressants PMID:11009577
Devuyst, Olivier; Thakker, Rajesh V
Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. These features are generally found in males only, and may be present in early childhood, whereas female carriers may show a milder phenotype. Prevalence is unknown; the disorder has been reported in around 250 families to date. Complications such as rickets or osteomalacia may occur. The disease is caused by mutations in either the CLCN5 (Dent disease 1) or OCRL1 (Dent disease 2) genes that are located on chromosome Xp11.22 and Xq25, respectively. CLCN5 encodes the electrogenic Cl?/H(+) exchanger ClC-5, which belongs to the CLC family of Cl? channels/transporters. OCRL1 encodes a phosphatidylinositol bisphosphate (PIP?) 5-phosphatase and mutations are also associated with Lowe Syndrome. The phenotype of Dent's disease is explained by the predominant expression of ClC-5 in the proximal tubule segments of the kidney. No genotype-phenotype correlation has been described thus far, and there is considerable intra-familial variability in disease severity. A few patients with Dent's disease do not harbour mutations in CLCN5 and OCRL1, pointing to the involvement of other genes. Diagnosis is based on the presence of all three of the following criteria: low-molecular-weight proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, kidney stones, hematuria, hypophosphatemia or renal insufficiency. Molecular genetic testing confirms the diagnosis. The differential diagnosis includes other causes of generalized dysfunction of the proximal tubules (renal Fanconi syndrome), hereditary, acquired, or caused by exogenous substances. Antenatal diagnosis and pre-implantation genetic testing is not advised. The care of patients with Dent's disease is supportive, focusing on the treatment of hypercalciuria and the prevention of nephrolithiasis. The vital prognosis is good in the majority of patients. Progression to end-stage renal failure occurs between the 3rd and 5th decades of life in 30-80% of affected males. PMID:20946626
Porocarcinoma coexisting at a site of Bowen disease in a 63-year-old woman.
Zheng, L-Q; Han, X-C; Huang, Y; Li, H-W; Niu, X-D; Li, J
Porocarcinoma is an unusual, locally aggressive and potentially fatal neoplasm. Several cutaneous malignancies have been described in association with porocarcinoma, including squamous cell carcinoma, basal cell carcinoma and tricholemmal carcinoma. Previous reports have indicated that the occurrence of malignant tumours in combination with porocarcinoma is extremely rare, in particular with regard to Bowen disease (BD). We report an uncommon case of porocarcinoma occurring synchronously in a single BD lesion in a 63-year-old woman with multiple BD lesions. The clinical and histological findings confirmed this diagnosis. PMID:25559897
When should a nephrologist suspect a mitochondrial disease?
Cavero, Teresa; Rabasco, Cristina; Molero, Aida; Blázquez, Alberto; Hernández, Eduardo; Martín, Miguel A; Praga, Manuel
Mitochondrial diseases, taking into account those that affect the processes of the respiratory chain (RC) and mitochondrial oxidative phosphorylation system (OXPHOS), make up a relatively frequent group within rare diseases that usually have multisystem involvement, a very variable phenotypic expression and a complex genetic base. Renal involvement is uncommon, with the tubule being the most affected, specifically its proximal portion, developing into full Toni-Debré-Fanconi syndrome in the most serious cases. However, in some cases the glomerulus is involved, fundamentally in focal segmental glomerulosclerosis form (FSGS), expressed by proteinuria and renal failure. It is important that the Nephrologist keeps in mind the possibility of a mitochondrial disease in patients with this type of renal involvement that present clinical data with these characteristics, especially diabetes mellitus and deafness. In cases with FSGS, a correct diagnosis will avoid the inappropriate use of immunosuppressive medication. Specific treatments do not exist for the majority of mitochondrial diseases, but it is likely that the intense research that currently exists for these diseases will eventually produce effective treatment possibilities. PMID:25611829
... Ask your pediatrician for a referral to a pediatric infectious disease specialist if your youngster is diagnosed with one ... B. Last Updated 5/5/2015 Source Immunizations ... © 2006 American Academy of Pediatrics) The information contained on this Web site should ...
NSDL National Science Digital Library
Science Update
We all use our noses to make quick judgments from time to time -- whether it's checking to see if the milk's still good, or if a shirt needs to go in the wash. Now, doctors are developing a kind of sniff test to screen for diseases. Find out more in this Science Update.
Dennis J. Alexander
1. In this paper several historical and contemporary aspects of Newcastle disease (ND) are reviewed, with particular reference to the greater understanding which modern techniques have allowed. 2. Virulent ND viruses were generally thought to have emerged in 1926 as a result of transfer from a wild bird host reservoir but there is evidence that the virulent virus may have
Araújo, Abelardo Q-C
Prion diseases are neurodegenerative illnesses due to the accumulation of small infectious pathogens containing protein but apparently lacking nucleic acid, which have long incubation periods and progress inexorably once clinical symptoms appear. Prions are uniquely resistant to a number of normal decontaminating procedures. The prionopathies [Kuru, Creutzfeldt-Jakob disease (CJD) and its variants, Gerstmann-Sträussler-Scheinker (GSS) syndrome and fatal familial insomnia (FFI)] result from accumulation of abnormal isoforms of the prion protein in the brains of normal animals on both neuronal and non-neuronal cells. The accumulation of this protein or fragments of it in neurons leads to apoptosis and cell death. There is a strong link between mutations in the gene encoding the normal prion protein in humans (PRNP) - located on the short arm of chromosome 20 - and forms of prion disease with a familial predisposition (familial CJD, GSS, FFI). Clinically a prionopathy should be suspected in any case of a fast progressing dementia with ataxia, myoclonus, or in individuals with pathological insomnia associated with dysautonomia. Magnetic resonance imaging, identification of the 14-3-3 protein in the cerebrospinal fluid, tonsil biopsy and genetic studies have been used for in vivo diagnosis circumventing the need of brain biopsy. Histopathology, however, remains the only conclusive method to reach a confident diagnosis. Unfortunately, despite numerous treatment efforts, prionopathies remain short-lasting and fatal diseases. PMID:24141515
Olivier Devuyst; Rajesh V. Thakker
Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. These features are generally found in males only, and may be present in early childhood, whereas female carriers may show a milder phenotype. Prevalence is unknown; the disorder has been reported in around 250 families to
NSDL National Science Digital Library
NBC Learn
With the threat of a warmer, wetter world and a larger global population, scientists are researching how climate change may impact the spread of infectious diseases,ťsuch as cholera and dengue fever, and how outbreaks may be prevented.ť "Changing Planet" is produced in partnership with the National Science Foundation.
Green, Peter H R; Lebwohl, Benjamin; Greywoode, Ruby
This review will focus on the pathogenesis, clinical manifestations, diagnosis, and management of celiac disease (CD). Given an increasing awareness of gluten-related disorders, medical professionals of all varieties are encountering patients with a diagnosis of CD or who are thought to have food intolerance to gluten. The prevalence of CD among the general population is estimated to be 1% in Western nations, and there is growing evidence for underdiagnosis of the disease, especially in non-Western nations that were traditionally believed to be unaffected. The development of serologic markers specific to CD has revolutionized the ability both to diagnose and monitor patients with the disease. Additionally, understanding of the clinical presentations of CD has undergone a major shift over the past half century. Although it is well understood that CD develops in genetically predisposed subjects exposed to gluten, the extent of other environmental factors in the pathogenesis of the disease is an area of continued research. Currently, the main therapeutic intervention for CD is a gluten-free diet; however, novel nondietary agents are under active investigation. Future areas of research should also help us understand the relationship of CD to other gluten-related disorders. PMID:25956012
... such as unpasteurized milk, undercooked meat, or unwashed fruits and vegetables that are contaminated with feces from an infected animal) Luckily, there are many ways you can protect yourself and your family from zoonotic diseases. You can: Always wash hands and follow proper ...
G. A. Zentmyer
Several fungi can cause diseases of avocado (Persea americana (Mill.)) of which Phytophthora cinnamomi Rands is the most serious. Phytophthora root rot causes extensive losses of avocado trees in nearly every country where avocados are grown. The fungus can be isolated from soil and roots by using selective agar media containing antibiotic chemicals and by using various types of baits
... disease may be caused by not eating enough fiber. When you don't eat enough fiber, you may get constipated and your stools may ... your doctor may suggest that you eat more fiber, drink plenty of fluids and exercise regularly to ...
Trichuris suis therapy in Crohn's disease
Summers, R W; Elliott, D E; Urban, J F; Thompson, R; Weinstock, J V
Background: Crohn's disease is common in highly industrialised Western countries where helminths are rare and uncommon in less developed areas of the world where most people carry worms. Helminths diminish immune responsiveness in naturally colonised humans and reduce inflammation in experimental colitis. Thus exposure to helminths may help prevent or even ameliorate Crohn's disease. Aims: The aim of the study was to determine the safety and possible efficacy of the intestinal helminth Trichuris suis in the treatment of patients with active Crohn's disease. Patients: Twenty nine patients with active Crohn's disease, defined by a Crohn's disease activity index (CDAI) ?220 were enrolled in this open label study. Methods: All patients ingested 2500 live T suis ova every three weeks for 24 weeks, and disease activity was monitored by CDAI. Remission was defined as a decrease in CDAI to less than 150 while a response was defined as a decrease in CDAI of greater than 100. Results: At week 24, 23 patients (79.3%) responded (decrease in CDAI >100 points or CDAI <150) and 21/29 (72.4%) remitted (CDAI <150). Mean CDAI of responders decreased 177.1 points below baseline. Analysis at week 12 yielded similar results. There were no adverse events. Conclusions: This new therapy may offer a unique, safe, and efficacious alternative for Crohn's disease management. These findings also support the premise that natural exposure to helminths such as T suis affords protection from immunological diseases like Crohn's disease. PMID:15591509
Heart disease, Coronary heart disease, Coronary artery disease; Arteriosclerotic heart disease; CHD; CAD ... Coronary heart disease (CHD) is the leading cause of death in the United States for men and women. Coronary ...
... from the NHLBI on Twitter. What Is Diabetic Heart Disease? The term "diabetic heart disease" (DHD) refers ... Kidney Diseases' Introduction to Diabetes Web page. What Heart Diseases Are Involved in Diabetic Heart Disease? DHD ...
... www.kidneyfund.org > Kidney Disease > Chronic Kidney Disease Chronic Kidney Disease (CKD) An estimated 31 million people in the United ... living with chronic kidney disease (CKD). What is CKD? The term "chronic kidney disease" (CKD) means lasting ...
... Patient Resources > Diseases & Conditions Back to Diseases & Conditions HIV and Rheumatic Disease PRINT Download PDF HIV infection ... treatment and HIV infection all overlap. What are HIV-associated rheumatic diseases? Some diseases of the joints ...
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal ?-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual ?-galactosidase A activity may display all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular (transient ischemic attacks, strokes) signs of the disease while heterozygous females have symptoms ranging from very mild to severe. Deficient activity of lysosomal ?-galactosidase A results in progressive accumulation of globotriaosylceramide within lysosomes, believed to trigger a cascade of cellular events. Demonstration of marked ?-galactosidase A deficiency is the definitive method for the diagnosis of hemizygous males. Enzyme analysis may occasionnally help to detect heterozygotes but is often inconclusive due to random X-chromosomal inactivation so that molecular testing (genotyping) of females is mandatory. In childhood, other possible causes of pain such as rheumatoid arthritis and 'growing pains' must be ruled out. In adulthood, multiple sclerosis is sometimes considered. Prenatal diagnosis, available by determination of enzyme activity or DNA testing in chorionic villi or cultured amniotic cells is, for ethical reasons, only considered in male fetuses. Pre-implantation diagnosis is possible. The existence of atypical variants and the availability of a specific therapy singularly complicate genetic counseling. A disease-specific therapeutic option - enzyme replacement therapy using recombinant human ?-galactosidase A - has been recently introduced and its long term outcome is currently still being investigated. Conventional management consists of pain relief with analgesic drugs, nephroprotection (angiotensin converting enzyme inhibitors and angiotensin receptors blockers) and antiarrhythmic agents, whereas dialysis or renal transplantation are available for patients experiencing end-stage renal failure. With age, progressive damage to vital organ systems develops and at some point, organs may start to fail in functioning. End-stage renal disease and life-threatening cardiovascular or cerebrovascular complications limit life-expectancy of untreated males and females with reductions of 20 and 10 years, respectively, as compared to the general population. While there is increasing evidence that long-term enzyme therapy can halt disease progression, the importance of adjunctive therapies should be emphasized and the possibility of developing an oral therapy drives research forward into active site specific chaperones. PMID:21092187
Mignot, Cyril; Gelot, Antoinette; De Villemeur, Thierry Billette
Gaucher disease is an autosomal recessive condition due to glucocerebrosidase deficiency responsible for the lysosomal accumulation of glucosylceramide, a complex lipid derived from cell membranes, mainly in macrophages. It is due to mutations mostly in the GBA gene, although saposine C deficiency is due to mutations in the PSAP gene. It encompasses an extremely heterogeneous spectrum of clinical involvement from the fetus to adulthood. Splenomegaly, blood cytopenia, and bone involvement are the main manifestations of Gaucher disease, but nervous system degeneration is observed in about 5-10% of patients. The accumulation in neurons of glucosylceramide and its derivative, psychosine, are thought to underlie neuronal dysfunction and death, although Gaucher cells that mostly accumulate such substances are mainly macrophages. Enzyme replacement therapy dramatically improves the outcome of patients because of its extreme efficacy in the treatment of the systemic involvement. However, it has only limited effects on most neurological signs. PMID:23622393
Accordino, Robert E; Engler, Danielle; Ginsburg, Iona H; Koo, John
Morgellons disease, a pattern of dermatologic symptoms very similar, if not identical, to those of delusions of parasitosis, was first described many centuries ago, but has recently been given much attention on the internet and in the mass media. The present authors present a history of Morgellons disease, in addition to which they discuss the potential benefit of using this diagnostic term as a means of building trust and rapport with patients to maximize treatment benefit. The present authors also suggest "meeting the patient halfway" and creating a therapeutic alliance when providing dermatologic treatment by taking their cutaneous symptoms seriously enough to provide both topical ointments as well as antipsychotic medications, which can be therapeutic in these patients. PMID:18318880
David H. Darrow; Nathan A. Kludt
\\u000a \\u000a \\u000a \\u000a \\u000a • \\u000a \\u000a \\u000a Tonsils and adenoid are important sources of J-chain bearing B-cell precursors that can eventually bind secretory IgA.\\u000a \\u000a \\u000a \\u000a \\u000a • \\u000a \\u000a \\u000a Although most tonsillitis in children is viral, Group A streptococcal disease is the most common treatable disorder. Treatment\\u000a is useful primarily in the prevention of sequelae. Tonsillectomy, however, may reduce the frequency of Group A streptococcal\\u000a disease in selected individuals with
Falk, S.
Presenting a multidisciplinary approach to the diagnosis and treatment of thyroid disease, this volume provides a comprehensive picture of current thyroid medicine and surgery. The book integrates the perspectives of the many disciplines that deal with the clinical manifestations of thyroid disorders. Adding to the clinical usefulness of the book is the state-of-the-art coverage of many recent developments in thyroidology, including the use of highly sensitive two-site TSH immunoradionetric measurements to diagnose thyroid activity; thyroglobulin assays in thyroid cancer and other diseases; new diagnostic applications of MRI and CT; treatment with radionuclides and chemotherapy; new developments in thyroid immunology, pathology, and management of hyperthyroidism; suppressive treatment with thyroid hormone; and management of Graves' ophthalmopathy. The book also covers all aspects of thyroid surgery, including surgical treatment of hyperthyroidism; papillary, follicular, and other carcinomas; thyroidectomy; and prevention and management of complications.
The radiological reporting of lumbar Scheuermann's disease: an unnecessary source of confusion amongst clinicians and patients.
Summers, B N; Singh, J P; Manns, R A
Patients with mechanical lower back pain not uncommonly present to clinicians with anxiety following a diagnosis of "Scheuermann's disease" based on a report of a plain radiograph of the lumbar spine. In most instances, the radiographs show features of lumbar Scheuermann's, rather than the classical adolescent thoracic kyphosis described by Scheuermann in 1920. The purpose of this study was (i) to investigate how often the diagnosis of Scheuermann's disease was made at a District General Hospital in radiological reports sent to local general practitioners (GPs); (ii) to determine the type of "Scheuermann's disease" being described; and (iii) to assess what GPs understood by the term "Scheuermann's disease" in the context of a specific clinical presentation. 50 reports were identified in a computerized search for diagnoses of "Scheuermann's disease". Review of the radiographs revealed that 80% showed features of lumbar Scheuermann's disease and 20% classical Scheuermann's. A questionnaire was issued to local GPs that described a case history of an adult patient with typical mechanical lower back pain for whom a radiological report, describing degenerative changes in the lumbar spine, concluded that some of the features "were consistent with Scheuermann's disease". 86% of GPs stated that they would inform their patients that they had "Scheuermann's disease" (using that exact term), but only 51% understood the meaning of the diagnosis in the context of the case history. We recommend that the term "Scheuermann's disease" be avoided in radiological reports to GPs and other non-specialist clinicians except when reporting on classical adolescent thoracic kyphosis. PMID:18440942
Mare?ek, Z; Br?ha, R
Wilsons disease is an autosomal recessive genetic disorder in which copper accumulates in tissues, especially in the liver and the brain. The genetic defect affects the P type ATPase gene (ATP7B). More than 500 mutations causing Wilsons disease have been described. The most common mutation in Central Europe concerns H1069Q. The symptoms of Wilsons disease include hepatic or neurological conditions. The hepatic condition is manifested as steatosis, acute or chronic hepatitis or cirrhosis. The neurological conditions are most often manifested after the age of 20 as motor disorders (tremor, speech and writing disorders), which may result in severe extrapyramidal syndrome with rigidity, dysarthria and muscle contractions. The dia-gnosis is based on clinical and laboratory assessments (neurological signs, liver lesions, low ceruloplasmin, increased free serum copper, high Cu volumes in urine, KayserFleischer ring). The dia-gnosis is confirmed by a high Cu level in liver tissue or genetic proof. Untreated Wilsons disease causes death of the patient. If treated properly the survival rate approximates to the survival rate of the common population. The treatment concerns either removal of copper from the body using chelating agents excreted into the urine (Penicillamine, Trientine) or limitation of copper absorption from the intestine and reducing the toxicity of copper (zinc, ammonium tetrathiomolybdate). In the Czech Republic, Penicillamine or zinc is used. A liver transplant is indicated in patients with fulminant hepatic failure or decompensated liver cirrhosis. In the family all siblings of the affected individual need to be screened in order to treat any asymptomatic subjects. PMID:23909262
Rando Allikmets
When the adenosine triphosphate (ATP)-binding cassette (ABC) transporter gene, ABCA4 (originally named ABCR), was cloned and characterized in 1997 as the causal gene for autosomal recessive Stargardt disease (arSTGD or STGD1) (1) it seemed as if just another missing link was added to the extensive table of genetic determinants of rare monogenic retinal\\u000a dystrophies. Now, 9 yr later, the ABCA4
Stefano Guandalini
\\u000a Celiac disease (CD) is an autoimmune disorder occurring in genetically susceptible individuals, triggered by gluten and related\\u000a prolamins, and plant storage proteins found in wheat, barley, and rye. It affects primarily the small intestine, where it\\u000a progressively leads to flattening of the small intestinal mucosa and subsequent nutrient malabsorption. Its pathogenesis involves\\u000a interactions among genetic, environmental, and immunological factors. Well-identified
Seymour Gendelman; Howard E. Gendelman; Tsuneya Ikezu
Huntington's disease (HD) is a familial and rare inherited neurological disorder with a prevalence of 5–8 cases per 100,000\\u000a worldwide. This makes HD the most common inherited neurodegenerative disorder (Fahn, 2005). HD is passed from parent to child\\u000a in autosomal dominant fashion. Each child of an HD parent has a 50% chance of inheriting HD. Both sexes are affected equally.
Unicentric Castlemans Disease: Unusual Disorder of the Neck a Case Review
Prasad, K.C.; Jalisatgi, Roshan R.; Swami, Gautam; Karunasagar, Abhilasha
Castleman's disease (giant or angio follicular lymph node hyperplasia) was first described by Benjamin Castleman in the year 1957 and was named after him. It is an uncommon lympho proliferative disorder which is localised to single lymphnode (unicentric) or multiple lymph node level systemically (multicentric).It is a very rare disorder characterised by non-cancerous growths. The most common sites of this are mainly thorax (mediastinum or lung hilum) and abdomen. It rarely occurs in cervical area. We report a case of unicentric cervical castleman's disease of neck in an 18-year-old female, who came to ENT OPD with history of right sided neck mass since 6-8 months. After thorough clinical examination and investigations, complete excision of the mass was done. Histopathological examination confirmed the diagnosis of Castleman's disease. On follow-up for one year no recurrence has been seen. PMID:26023575
Long-term disease-free survival in three ovarian cancer patients with a single relapse.
Chen, C Y; Chang, H P; Ng, K K; Wang, C C; Lai, C H; Chao, A
Recurrent ovarian cancer with long-term survival is uncommon and often associated with poor prognosis. We report three cases of patients with advanced ovarian cancer who have achieved long-term disease-free survival following a single prior relapse. Case 1 relapsed with a localized bulky tumor and received a complete surgical resection and chemotherapy. Case 2 had a persistent central pelvic tumor after debulking surgery and second-line chemotherapy, and yet achieved excellent control with concurrent chemoradiation to the true pelvis. Case 3 relapsed with paraaortic lymph node metastasis and probable lung metastasis (subsequently negated by positron emission tomography) and received chemotherapy alone. These three patients have since remained disease-free for 13, 12, and seven years, respectively, since their first relapse. We conclude that select patients can obtain long-term disease-free survival after the first relapse by accurate restaging and aggressive multimodality treatment. PMID:22873111
Interstitial lung disease preceding primary biliary cirrhosis in a male patient.
Franco, I; Dubini, A; Piciucchi, S; Casoni, G; Poletti, V
A 47-year-old male was admitted with subacute onset of dry cough and fever. Chest tomography demonstrated multifocal areas of consolidation and ground glass attenuation. Cytological analysis of bronchoalveolar lavage revealed lymphocytosis and eosinophilia and anatomopathological exam of transbronchial cryobiopsy showed poorly formed non-caseous granulomas associated to interstitial lympho-plasmocitary infiltrate. The diagnosis of idiopathic granulomatous lung disease (GLD) was assumed and the patient started oral prednisolone, presenting clinical, functional and radiological improvement. Two years later, the patient was diagnosed with primary biliary cirrhosis (PBC). At this time, it was possible to associate GLD with the autoimmune hepatobiliary disease. Clinical, epidemiological and pathological aspects of this uncommon case of interstitial lung disease as first presentation of PBC in a male patient are discussed. PMID:25998779
[Sero-monitoring of notifiable diseases in wild boar in the Netherlands 1999-2001].
Elbers, A R; Dekkers, L J; Spek, G J; Steinbusch, L J; van Exsel, A C
Within the framework of a sero-monitoring system, in operation since 1996. blood samples from wild boar shot during the hunting seasons 1999-2000 and 2000-2001 in The Netherlands were screened for the presence of antibodies against classical swine fever virus (CSFV), swine vesicular disease virus (SVDV), and Anjeszky's disease virus (ADV). The results indicate that CSFV, SVDV, and ADV are uncommon in the wild boar population in the Netherlands. Because of the recent foot-and-mouth disease (FMD) epidemic in the Netherlands in 2001, blood samples (approximately 200 samples) from wild boar shot in the Netherlands during the hunting season 2001/2002 were examined for antibodies against FMD. To date, antibodies against FMD have not been detected. PMID:11780256
New and re-emerging cutaneous infectious diseases in Latin America and other geographic areas.
Bravo, Francisco; Sanchez, Miguel R
Due to environmental factors and inadequate public health measures in many developing countries, new tropical infections, as well as infections that were previously isolated to remote locales, are becoming more prevalent in several areas of Latin America. This article discusses some tropical infections and infestations with predominantly cutaneous manifestations. Previously uncommon diseases such as gnathostomiasis, mycobacteria ulcerans infection, paederus dermatitis, Balamuthia mandrillaris infection, and human T-lymphotrophic virus 1 dermatitis are increasingly being reported. Well-known tropical infections such as bartonellosis, leishmaniasis, chromomycosis, larva migrans, and larva currens are also becoming more prevalent. On the other hand, the incidence of Hansen's disease, the quintessential tropical infection, is dwindling all over the globe thanks to a highly effective eradication campaign launched by the World Health Organization. Because of increased immigration and tourist travel, the number of cases of these diseases in the United States may escalate. PMID:14717406
Plant Disease Lesson: Dutch elm disease
NSDL National Science Digital Library
Cleora J. D'Arcy (University of Illinois; )
This plant disease lesson on Dutch elm disease (caused by the fungus Ophiostoma ulmi) includes information on symptoms and signs, pathogen biology, disease cycle and epidemiology, disease management, and the significance of the disease. Selected references are listed and a glossary is also available for use with this resource.
Plant Disease Lesson: Rhizoctonia Diseases of Turfgrass
NSDL National Science Digital Library
Lane P. Tredway (University of Georgia, Athens; )
This plant disease lesson on Rhizoctonia diseases of turfgrass (caused by the fungi Rhizoctonia species) includes information on symptoms and signs, pathogen biology, disease cycle and epidemiology, disease management, and the significance of the disease. Selected references are listed and a glossary is also available for use with this resource.
Plant Disease Lesson: Lesion nematode disease
NSDL National Science Digital Library
Eric L. Davis (North Carolina State University; )
This plant disease lesson on Lesion nematode disease (caused by Pratylenchus) includes information on symptoms and signs, pathogen biology, disease cycle and epidemiology, disease management, and the significance of the disease. Selected references are listed and a glossary is also available for use with this resource.
Plant Disease Lesson: Soybean cyst nematode disease
NSDL National Science Digital Library
Eric L. Davis (North Carolina State University; )
This plant disease lesson on Soybean cyst nematode disease (caused by Heterodera glycines) includes information on symptoms and signs, pathogen biology, disease cycle and epidemiology, disease management, and the significance of the disease. Selected references are listed and a glossary is also available for use with this resource.
Co-occurrence of intracranial rosai-dorfman disease and langerhans histiocytosis of the skull: case report and review of literature.
Kutty, Shankar Ayyappan; Sreehari, Sreekala
Rosai-Dorfman Disease involves histiocytic proliferation of the lymphatic system. Extranodal disease involving the central nervous system is uncommon. Furthermore, the combination of this disease entity with Langerhans cell histiocytosis is an even rarer phenomenon that has only recently been highlighted. A young male, who had previously undergone surgical excision of a skull lesion that was reported as Langerhans histiocytosis presented with an intracranial lesion mimicking a meningioma. Histopathology of the lesion was reported as being consistent with Rosai-Dorfman disease and the patient is currently undergoing chemotherapy. This is only the second report of the co-occurrence of Langerhans histiocytosis and Rosai-Dorfman disease in the cranium and intracranial cavity. The possibility that the diseases represent different spectra of the same underlying pathology is one that merits more detailed analysis, especially at the genomic level. PMID:26037195
Postpartum Acute Pulmonary Oedema with Sub clinical Rheumatic Heart Disease
Gande, Sri Krishna Padma Challa Rao.
Acute dyspnea with pulmonary oedema in postpartum is uncommon but life-threatening event. Contributing factors for pulmonary oedema include, administration of tocolytics, underlying cardiac disease, iatrogenic fluid overload and preeclampsia acounting 0.08% of pregnancies. Pulmonary embolism, amniotic fluid embolism, pneumonia, aspiration and pulmonary oedema are some of the potentially devastating conditions that should be considered by the attending physician. Here, we report a case of postpartum acute pulmonary oedema referred to causality after an emergency caesarean section in a private hospital. No matter what the underlying pathology, prompt administration and appropriate resuscitation is always the first priority. Only after the patient has been stabilized attention must be turned to diagnosis and specific treatment. A diagnosis of severe Mitral Stenosis, probably of rheumatic origin was made after stabilizing the patient. PMID:25859501
Treatment of metastatic disease in patients with neuroendocrine tumors.
Niederhuber, John E; Fojo, Tito
Gastroenteropancreatic neuroendocrine tumors (GENTs) compromise a heterogeneous group of relatively uncommon neoplasms with a yearly incidence rate of 1.2 to 3.0 per 100,000 population. These tumors share numerous histologic and biologic features, allowing their consideration as a common entity. They are postulated to arise from neuroendocrine cells, but most are not from neural crest origin. Their predominant site of origin is the gastrointestinal tract, where most involve the small intestine and appendix, but are also found in the adrenal medulla, bronchopulmonary system, pancreas, thyroid, parathyroid, and paraganglia cells. A common feature is their often indolent course, but some tumors are poorly differentiated and behave aggressively. This article addresses the surgical management of endocrine malignancies and the treatment of metastatic disease in patients with neuroendocrine tumors. PMID:16882495
An uncommon association of antiphospholipid syndrome, selective IgA deficiency and resistant-to-treatment relapsing polychondritis: efficacy of infliximab.
Firinu, D; Frau, A; Pisanu, M; Lorai, M M; Meleddu, R; Musu, F; Manconi, P E; Del Giacco, S R
Autoimmune complications in the context of primary immunodeficiency diseases represent a well-known phenomenon, and this is widely recognized also for Selective Immunoglobulin A deficiency (IgAD), the most common primary antibody deficiency (PAD). Relapsing polychondritis (RP) is a rare immune-mediated, difficult to treat, disorder in which the cartilaginous tissues are the target for inflammation and damage. Ocular inflammatory manifestations in RP are frequent and often sight-threatening. Antiphospholipid syndrome (APS) is an acquired prothrombotic state related to circulating autoantibodies against phospholipids and/or their cofactors. Rare reports of APS associated to RP, PAD and APS or PAD and RP are available. PMID:23241130
Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375)
Nishimuri, Gen [Dokkyo Univ. School of Medicine, Tochigi (Japan); Fukushima, Yoshimitsu; Ohashi, Hirofumi [Saitama Children`s Medical Center, Saitama (Japan); Ikegawa, Shiro [Tokyo Univ. (Japan)
The recent discovery of mutations in the FGFR-3 (fibroblast growth factor receptor-3) gene (FGFR3) as the cause of achondroplasia has provided new insight into understanding genetic diseases. It was surprising from the viewpoint of molecular genetics that most patients with achondroplasia showed the same mutation at nucleotide 1138, leading to a single amino acid substitution from glycine to arginine at codon 380 (Gly380Arg). All 39 patients examined by two groups had the Gly380Arg; 38 patients and the other demonstrated a G to A and a G to C transition at nucleotide 1138, respectively. Subsequently another group disclosed a G to A transition at the same nucleotide 1138 in 21/23 patients of diverse ethnic origin, although mutations were not identified in two patients. To date, a total of 193 patients with the mutation of the G380Arg have been reported; a single patient with another mutation resulting in a substitution from glycine to cysteine at codon 375 (Gly375Cys) has been described. The presence of this common mutation is consistent with the clinical fact that achondroplastic individuals show less phenotypic variability than is unusual for autosomal dominant diseases. We encountered a Japanese boy with the Gly375Cys. His mother with achondroplasia has the same mutation. The molecular investigation of these patients was reported elsewhere. Here we report the clinical and radiological findings in this boy who demonstrated some atypical manifestations from those of typical achondroplasia. 8 refs., 1 fig.
Isomoto, Shinji; Tanaka, Yasuhito
Morton's disease refers to neuralgia at the web space of the toes with a pseudo-neuroma. It commonly occurs in the third web space of the foot in middle-aged and older women. The pseudo-neuroma is thought to be a secondary change after entrapment or repeated microtrauma. Patients complain of forefoot pain while walking. Typically, symptoms are caused by tight high-heeled shoes. The physical examination includes palpation of the web spaces and Mulder's test. Weight bearing foot radiographs are used to evaluate the deformity of the foot, especially at metatarsophalangeal (MTP) joints. MRI is useful for differential diagnosis of pseudo-neuroma, MTP joint arthritis, and interdigital bursitis. Conservative treatments are shoe modification, use of orthotic insoles, and injection of corticosteroids and local anesthesia. The injections are useful not only for the treatment but also for diagnosis of Morton's disease. If the local injection is not temporally effective, surgical treatment is not indicated. If the conservative treatment fails, surgical treatment is indicated. The most common surgery is excision of the pseudo-neuroma. The surgery is usually performed using a dorsal approach. PMID:25475032
Tanowitz, H B; Kirchhoff, L V; Simon, D; Morris, S A; Weiss, L M; Wittner, M
Chagas' disease, caused by Trypanosoma cruzi, is an important cause of morbidity in many countries in Latin America. The important modes of transmission are by the bite of the reduviid bug and blood transfusion. The organism exists in three morphological forms: trypomastigotes, amastigotes, and epimastigotes. The mechanism of transformation and differentiation is currently being explored, and signal transduction pathways of the parasites may be involved in this process. Parasite adherence to and invasion of host cells is a complex process involving complement, phospholipase, penetrin, neuraminidase, and hemolysin. Two clinical forms of the disease are recognized, acute and chronic. During the acute stage pathological damage is related to the presence of the parasite, whereas in the chronic stage few parasites are found. In recent years the roles of tumor necrosis factor, gamma interferon, and the interleukins in the pathogenesis of this infection have been reported. The common manifestations of chronic cardiomyopathy are arrhythmias and thromboembolic events. Autoimmune, neurogenic, and microvascular factors may be important in the pathogenesis of the cardiomyopathy. The gastrointestinal tract is another important target, and "mega syndromes" are common manifestations. The diagnosis and treatment of this infection are active areas of investigation. New serological and molecular biological techniques have improved the diagnosis of chronic infection. Exacerbations of T. cruzi infection have been reported for patients receiving immuno-suppressive therapy and for those with AIDS. Images PMID:1423218
Kákosy, T
Today, in this age of technology, vibration caused by machinery is an almost universal hazard. Vibration transferred from a machine to the human body may cause discomfort, a reduction of performance, and even injury. Vibratory manual tools may cause damage to the circulatory system of the upper extremities (Raynaud's syndrome), to the peripheral nerves (peripheral neuropathy), and to the bones and joints (aseptic necrosis, fatigue fractures, degenerative joint disease). Vehicles and machines causing floor vibration cause degenerative disc disease of the lumbar spine. The pathogenesis of vibration injuries is still not completely clear and there is no effective treatment. Some of the abnormalities are irreversible and may cause permanent decrease of working ability, and even unemployment. This is why prevention is so important. Prevention is complex, including technical and organizational measures, use of individual protective clothing and footwear, and medical supervision both before and during employment. Workers who are exposed to vibration should be protected against other aggravating factors such as cold and noise, etc. Vibration-induced injuries are recognized in law in many countries as grounds for financial compensation. Their cost to industry is rising and, unless a means of prevention or cure is found, will continue to do so in the foreseeable future. PMID:2661029
Disease Activity Measures in Paediatric Rheumatic Diseases
Luca, Nadia J.; Feldman, Brian M.
Disease activity refers to potentially reversible aspects of a disease. Measurement of disease activity in paediatric rheumatic diseases is a critical component of patient care and clinical research. Disease activity measures are developed systematically, often involving consensus methods. To be useful, a disease activity measure must be feasible, valid, and interpretable. There are several challenges in quantifying disease activity in paediatric rheumatology; namely, the conditions are multidimensional, the level of activity must be valuated in the context of treatment being received, there is no gold standard for disease activity, and it is often difficult to incorporate the patient's perspective of their disease activity. To date, core sets of response variables are defined for juvenile idiopathic arthritis, juvenile systemic lupus erythematosus, and juvenile dermatomyositis, as well as definitions for improvement in response to therapy. Several specific absolute disease activity measures also exist for each condition. Further work is required to determine the optimal disease activity measures in paediatric rheumatology. PMID:24089617
... the key statistics about Hodgkin disease? What is Hodgkin disease? Hodgkin disease (Hodgkin lymphoma) is a type of ... also have lymphoid tissue. Start and spread of Hodgkin disease Because lymphoid tissue is in many parts of ...
McCoy, Norman L.; Berry, Robert W.
CONTENTS INTRODUCTION ........................ . DISSEMINATION OF WHEAT DISEASES ... . ROOT DISEASES ......................... . Root, Crown and Foot Rots ............... . Plant Parasitic Nematodes ................ . Seedling Diseases... . . . . . . . . . . . . . . . . . . . . . . . . . FOLIAGE DISEASES ..................... . 3 3 4 4 4 4 5 Rusts . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5 Leaf Rust . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5 Stem Rust...
Risk stratification in extramammary Paget disease.
Cohen, J M; Granter, S R; Werchniak, A E
Extramammary Paget disease (EMPD) is an uncommon intraepithelial adenocarcinoma that involves body sites with apocrine glands such as the genital, perineal and perianal regions. Risk stratification and treatment planning for EMPD can be challenging. This review presents important prognostic information in EMPD to assist physicians with risk stratification of patients with EMPD. The best-understood prognostic factors are depth of invasion and involvement of extracutaneous sites. Tumours that invade into the reticular dermis or have a depth of > 1 mm are associated with poorer prognosis. Additionally, tumours spreading outside the skin into lymph nodes or other tissues are higher risk. There is an emerging understanding of the importance of tumour genetics in risk stratification, and we review the data on Ki-67, cyclin D1, Mucin 5AC and E-cadherin. There is less evidence supporting the importance of lesion site and patient age in risk stratification. This succinct review will be helpful in clinical practice and in EMPD research. PMID:26011765
Ultrasound in patients affected with Peyronie's disease.
Fornara, P; Gerbershagen, H-P
Peyronie's disease (PD, induratio penis plastica) is uncommon. Its etiology is unknown and the incidence is stated to be 1%, although more recent data suggest that it is higher. The symptoms are penile deviation and painful erection in association with penile plaques. The diagnosis is performed by palpation of the penis. X-ray diagnostics are only used to visualize the calcified plaques in soft tissue imaging, and the survey of plaque size and consistence is done by sonography with high reproduction. This enables the exact evaluation of treatment effects. By application of high frequency scanners (7-12 MHz) the extent and depth of the plaques can be estimated non-invasively in high resolution images. Furthermore, color coded duplex sonography and recording of Doppler spectra are used to assess hemo-perfusion in the penile vessels and the analysis of erectile dysfunction, often seen in combination with PD. Sonographic diagnosis appears as a valuable supplement and requirement for a successful therapy of PD. PMID:15672280
Uncommon CT imaging of the hepatic falciform artery in patients presenting with very unusual variants of gastrointestinal arteries: report of two cases.
Coulier, Bruno
The hepatic falciform artery (HFA) may be found in 68 % of subjects in post-mortem dissections. It is well known by interventional radiologists who perform selective hepatic angiography. The reason essentially results from the potential supraumbilical skin complications which may produce by the distribution of chemotherapeutic agents through the HFA after transcatheter chemoinfusion or chemoembolization for liver tumors. Nevertheless, the spontaneous visualization of the HFA remains very unusual in current abdominal CT practice. We hereby report the demonstration of a patent HFA during conventional abdominal CT in two patients presenting without liver disease but in which very unusual variants of the gastrointestinal arteries were simultaneously found. The first patient had a common celiomesenteric trunk and the second had a severe compression of both the celiac trunk and superior mesenteric artery by the median arcuate ligament of the diaphragm. We shortly review the literature about these rare variants. We hypothesize that the HFA was spontaneously visible in our patients because of hypertrophy due supplying collateralization. PMID:25791132
`Silk Route Disease' (Behçet's Disease)
James, D. Geraint
Behçet's disease is a multisystem disorder in which orogenital ulceration is associated with troublesome generalized uveitis, erythema nodosum, pyoderma, dermatographism, seronegative arthritis, and neurologic and cardiovascular symptoms. There is no diagnostic laboratory test; the diagnosis is based on the disorder's multisystem clinical features. A points scoring system is helpful in distinguishing it from other multisystem disorders that mimic it. It occurs most frequently in an area coinciding with the old Silk Route, between latitudes 30° and 45° north, in Asian and Eurasian populations, and it has an HLA-B51 affinity. The cause remains unknown, but a postulated trigger factor is a herpesvirus with cofactors that include ethnic group, human leukocyte antigen affinities, T-cell and autonomic imbalance, circulating immune complexes, autoimmunity, blood viscosity, decreased fibrinolysis, and zinc deficiency. Treatment includes administering corticosteroids, azathioprine, chlorambucil, cyclosporine, and colchicine, and fibrinolytic therapy. PMID:3291395
Single Nucleotide Polymorphism in Patients with Moyamoya Disease
Moyamoya disease (MMD) is a chronic, progressive, cerebrovascular occlusive disorder that displays various clinical features and results in cerebral infarct or hemorrhagic stroke. Specific genes associated with the disease have not yet been identified, making identification of at-risk patients difficult before clinical manifestation. Familial MMD is not uncommon, with as many as 15% of MMD patients having a family history of the disease, suggesting a genetic etiology. Studies of single nucleotide polymorphisms (SNPs) in MMD have mostly focused on mechanical stress on vessels, endothelium, and the relationship to atherosclerosis. In this review, we discuss SNPs studies targeting the genetic etiology of MMD. Genetic analyses in familial MMD and genome-wide association studies represent promising strategies for elucidating the pathophysiology of this condition. This review also discusses future research directions, not only to offer new insights into the origin of MMD, but also to enhance our understanding of the genetic aspects of MMD. There have been several SNP studies of MMD. Current SNP studies suggest a genetic contribution to MMD, but further reliable and replicable data are needed. A large cohort or family-based design would be important. Modern SNP studies of MMD depend on novel genetic, experimental, and database methods that will hopefully hasten the arrival of a consensus conclusion. PMID:26180609
Autoimmune Thyroid Disease in Rheumatoid Arthritis: A Global Perspective
Cárdenas Roldán, Jorge; Amaya-Amaya, Jenny; Castellanos-de la Hoz, Juan; Giraldo-Villamil, Juliana; Montoya-Ortiz, Gladys; Cruz-Tapias, Paola; Rojas-Villarraga, Adriana; Mantilla, Rubén D.; Anaya, Juan-Manuel
Objective. To determine the prevalence and impact of autoimmune thyroid disease (AITD) in patients with rheumatoid arthritis (RA). Methods. Eight-hundred patients were included. The association between AITD and RA was analyzed was analyzed by bivariate and multivariate analysis. In addition, a literature review was done focusing on geographical variations. Results. In our cohort the prevalence of AITD was 9.8% while the presence of antibodies was 37.8% for antithyroperoxidase enzyme (TPOAb) and 20.8% for antithyroglobulin protein (TgAb). The presence of type 2 diabetes, thrombosis, abnormal body mass index, and a high educational level was positively associated with AITD. The literature review disclosed a geographical variation of AITD in RA ranging from 0.5% to 27%. Autoantibody prevalence ranges from 6% to 31% for TgAb, 5% to 37% for TPOAb, and from 11.4% to 32% for the presence of either of the two. Conclusion. AITD is not uncommon in RA and should be systematically assessed since it is a risk factor for developing diabetes and cardiovascular disease. These results may help to further study the common mechanisms of autoimmune diseases, to improve patients' outcome, and to define public health policies. An international consensus to accurately diagnose AITD is warranted. PMID:23209899
Diet and skin disease in dogs and cats.
Watson, T D
Dietary factors have a major role in the maintenance of healthy coat and skin, and are significant in the etiology and therapy of certain skin diseases. Nutritional deficiencies are now uncommon as a result of the widespread feeding of complete and balanced pet foods. Deficiencies of (n-6) polyunsaturated fatty acids, zinc and vitamins, however, do arise in certain animal- or product-related instances. Supraphysiologic doses of vitamin A have been used in the management of vitamin A-responsive dermatosis in Cocker spaniels; other keratinization defects and seborrheic conditions may respond to retinoid therapy. Much interest has been paid to the therapeutic value of polyunsaturated fatty acid supplements in the management of dermatologic conditions associated with hypersensitivity reactions or keratinization defects. These studies have generally yielded disappointing results, which may reflect shortcomings in the design of some trials. Nevertheless, a placebo-controlled, double-blind, cross-over study has demonstrated a clear benefit of high dose (n-3) fatty acids in the management of pruritic skin disease. There is also preliminary experimental evidence that specific dietary (n-6):(n-3) fatty ratios are useful in the dietary management of inflammatory diseases. Although results of controlled clinical trials are awaited, the argument exists that it is the absolute amount of (n-3) fatty acid intake rather than ratio that is responsible for potential health benefits. PMID:9868266
[A case of atypical meningioma with Lhermitte-Duclos disease].
Isobe, Naoyuki; Oki, Shuichi; Murakami, Tarou; Ooyama, Shigeru; Kureshima, Makoto; Kurokawa, Yasuhiro
Lhermitte-Duclos disease is known as an uncommon disease that characterized by a slowly progressive tumor of the cerebellar hemisphere. We present a case of atypical meningioma with Lhermitte-Duclos disease. A 57-year-old female was admitted to our hospital after presenting with general convulsion. CT scan on arrival showed a large mass of the left frontal region and slightly high-density linear lesion in the right cerebellar hemisphere. MRI also revealed well-enhanced mass in the left frontal region and parallel linear striation in the right cerebellar hemisphere. But, the patient had neither cerebellar dysfunction nor signs of increased intracranial pressure. The patient had angioma of the left breast and bilateral benign struma, no typical manifestation of Cowden syndrome. Removal of the frontal tumor caused the convulsion was subsequently performed. The pathological examination was atypical meningioma. After the operation, radiation therapy was not done because of the total removal of tumor and intension on patient side. Fortunately, the patient had no further adverse neurological events postoperatively. However, we should continuously take account to not only the recurrence of meningioma but also the enlargement of the cerebellar lesion and the complication of malignant tumors in whole body. PMID:16359035
Lymphocytic hypophysitis: a rare or underestimated disease?
Bellastella, Antonio; Bizzarro, Antonio; Coronella, Concetta; Bellastella, Giuseppe; Sinisi, Antonio Agostino; De Bellis, Annamaria
Lymphocytic hypophysitis (LYH) is an uncommon autoimmune disease in which the pituitary gland is infiltrated by lymphocytes, plasma cells and macrophages and its function is usually impaired. It has to be suspected in pregnant women and in women with recent delivery presenting with hyperprolactinemia, headache, visual field alterations and changes of one or more pituitary hormone secretions with secondary impairment of related peripheral target glands, especially when associated with other autoimmune endocrine or non-endocrine disorders. It can also occur less frequently in prepubertal or post-menopausal women and in men. Headache, visual field impairment and more rarely diplopia are due to extrasellar pituitary enlargement with optic chiasma compression and/or to invasion of cavernous sinuses. Among the 'isolated' pituitary hormone deficiencies, ACTH deficit is usually the earliest and most frequent hormonal impairment and in rare cases can induce an acute secondary hyposurrenalism as the first sign of the disease, with high mortality in affected patients. Histopathological findings from pituitary biopsy show lymphoplasmacytic infiltrate with lymphoid aggregates surrounding atropic acini of pituitary cells; immunohistochemical analysis shows numerous mast cells randomly distributed and also localized in the vicinity of capillaries, suggesting a possible influence on capillary permeability and angiogenesis, thus favoring the inflammatory and immunological aggression against pituitary cells. Nuclear magnetic resonance imaging shows uniform sellar floor depression and an extrasellar symmetrical pituitary enlargement, usually displacing the optic chiasma, which shows a rapid homogeneous enhancement after gadolinium also involving the adjacent dura (dural tail). Antipituitary antibodies have been detected in several patients with LYH but their role needs to be clarified. Since a possible spontaneous remission can occur, a careful follow-up is required in subclinical patients without important hyposurrenalism or symptomatic extrasellar expansion. Medical (immunosuppressive, replacement and antiprolactinemic) and neurosurgical (decompression) treatments are needed in clinical symptomatic patients. PMID:14585081
Benninger, David H
In advanced Parkinson's disease (PD), the emergence of symptoms refractory to conventional therapy poses therapeutic challenges. The success of deep brain stimulation (DBS) and advances in the understanding of the pathophysiology of PD have raised interest in noninvasive brain stimulation as an alternative therapeutic tool. The rationale for its use draws from the concept that reversing abnormalities in brain activity and physiology thought to cause the clinical deficits may restore normal functioning. Currently the best evidence in support of this concept comes from DBS, which improves motor deficits, and modulates brain activity and motor cortex physiology, although whether a causal interaction exists remains largely undetermined. Most trials of noninvasive brain stimulation in PD have applied repetitive transcranial magnetic stimulation (rTMS), targeting the motor cortex. Current studies suggest a possible therapeutic potential for rTMS and transcranial direct current stimulation (tDCS), but clinical effects so far have been small and negligible with regard to functional independence and quality of life. Approaches to potentiate the efficacy of rTMS include increasing stimulation intensity and novel stimulation parameters that derive their rationale from studies on brain physiology. These novel parameters are intended to simulate normal firing patterns or to act on the hypothesized role of oscillatory activity in the motor cortex and basal ganglia with regard to motor control and its contribution to the pathogenesis of motor disorders. Noninvasive brain stimulation studies will enhance our understanding of PD pathophysiology and might provide further evidence for potential therapeutic applications. PMID:24112916
Rosai-Dorfman Disease in Thoracic Spine: A Rare Case of Compression Fracture
Kim, Do Young; Park, Ji Hye; Shin, Dong Ah; Yi, Seung; Ha, Yoon; Yoon, Do Heum; Kim, Keung Nyun
Sinus histiocytosis with massive lymphadenopathy known as Rosai-Dorfman disease is characterized by painless bilateral cervical lymphadenopathy. Extranodal manifestations are uncommon and spinal involvement is rare. A 15-year-old man presented with intermittent midthoracic back pain only. He had no specific findings on neurologic examinations, hematologic and biochemical laboratory tests. Radiological examination of thoracic spine revealed collapse of T6 vertebrae with thoracic kyphosis and osteolytic lesion of T12 vertebra body. He underwent a removal of bone tumor, anterior reconstruction with mesh and pedicle screw fixation via posterior approach for pathologic confirmation and stabilization. Histopathologic study of the lesion revealed focal infiltration of large histiocytes showing emperipolesis. Immunochemistry stain of histiocytes was positive for CD68 and S-100 but negative for CD1a. This report presents a rare case and literature review of extranodal Rosai-dorfman disease in thoracic spine. PMID:25346769
Wilson's disease: A Clinical autopsy case report with review of literature
Raju, Kalyani; Bangalore, Gayathri Nagaraj; Thuruvekere, Suresh Nagaraj; Pathavanalli, Venkatarathnamma Narayanappa
Wilson's disease is an autosomal recessive disease resulting in defective copper metabolism, which is usually seen in young adults, predominantly affecting liver and brain. Although it is not uncommon in India, variation in epidemiology, clinical presentation and course are reported. However, community-based incidence and prevalence rates are not available in India and incidences are limited to hospital based reports. Most often, the diagnosis is delayed. We present a clinical autopsy case in a 39 year-old female who had presented with clinical symptoms at 18 years of age. The duration of illness was 21 years. Patient's parent had consanguineous marriage and the younger sibling had died at 5 years of age with similar complaints. PMID:25810676
Clinically silent idiopathic Parkinson's disease unmasked by valproate use: a brief report.
Athauda, Dilan; Batley, Robert; Ellis, Catherine
Valproate is an important but uncommon cause of drug induced parkinsonism in the elderly. The development of symptoms after valproate onset is unpredictable, and severity of symptoms is unrelated to plasma levels. However, though the majority of cases improve after drug cessation, parkinsonian symptoms can persist and should prompt investigation into underlying degenerative parkinsonism, as valproate can unmask idiopathic Parkinson's disease in susceptible individuals. This case describes a patient on chronic valproate therapy developing a severely disabling akinetic-rigid syndrome, only partially reversed on stopping valproate. We hypothesise that an increase in valproate dosage unmasked clinically silent Parkinson's disease. The patient made an excellent recovery following cessation of valproate and commencement of dopaminergic therapy. PMID:25365950
Esophageal actinomycosis in a patient with end-stage renal disease.
Nagaraju, Shankar Prasad; Kirpalani, Dilip Ashok; Bhabhe, Aditya S; Prasad, Raghvendra; Shah, Hardik; Kirpalani, Ashok L
Actinomycosis of esophagus is uncommon. Herpes simplex virus, cytomegalovirus, candidiasis, tuberculosis, and other fungal infections are the commonly reported infections in both immunocompromised and immunocompetent patients. We report a case of esophageal actinomycosis in an end-stage renal disease patient. A 28-year-old lady, known case of systemic lupus erythematosus, hepatitis B virus infection with end-stage renal disease on regular maintenance hemodialysis since 5 years presented with history of epigastric pain and odynophagia for 1 week. Her upper gastrointestinal endoscopic examination revealed extensive necrotic areas with membrane in the esophagus. Histopathology revealed actinomycotic colonies and bacterial clumps. She was treated with intravenous penicillin followed by oral ampicillin for 6 months. She showed marked clinical improvement, and repeat endoscopy showed healing of ulceration and no evidence of actinomycosis. PMID:24393413
Coronary artery disease in premenopausal Indian women: risk factors and angiographic profile.
Pinto, R J; Bhagwat, A R; Loya, Y S; Sharma, S
Coronary angiographic and clinical profile of 47 premenopausal women presenting with myocardial infarction (MI) or angina is presented. Seventeen patients (36%) had significant obstructive coronary artery disease (CAD) (Group I), while 30 (64%) had normal coronaries (Group II). The latter group included 4 who had MI and 26 who presented with angina. Risk factors in Group I included hypertension (53%), diabetes mellitus (24%), hypercholesterolemia (29%), oral contraceptives and a positive family history (11.8%). Frequency of one, two and three vessel disease was 47%, 18% and 35% respectively. The left anterior descending artery was most commonly affected (82%). In Group II the risk factors included hypertension (17%) and diabetes (7%). No patient in either group was a smoker. This analysis shows that significant obstructive CAD in premenopausal Indian females is more commonly associated with hypertension, diabetes and hypercholesterolemia. Smoking was not encountered and ingestion of contraceptive pills is uncommon. PMID:1427940
Quantitative MR Markers and Psychiatric Symptoms in a Patient with Fahr Disease.
Lo Buono, Viviana; Corallo, Francesco; Costa, Antonio; Bramanti, Placido; Marino, Silvia
BACKGROUND Fahr's disease (FD), or primitive idiopathic calcification of the basal ganglia, is a rare neurodegenerative syndrome characterized by the presence of idiopathic bilateral and symmetrical cerebral calcifications. CASE REPORT We describe the case of 43-year-old woman presenting with psychiatric symptoms, disorganized behavior, and migraine. Magnetic resonance imaging (MRI) examination showed basal ganglia calcifications. In addition, we analyzed the cortical brain volume and noted cortical atrophy. Extensive etiological clinico-biological assessment allowed us to exclude known causes of brain calcifications and to diagnose Fahr disease (FD). Neurological symptoms associated with psychiatric manifestations are not uncommon in FD. CONCLUSIONS Purely psychiatric presentations are possible, as demonstrated by the present case, although there have been very few cases reported. To date, no studies related to the brain atrophy in FD have been reported. PMID:26094250
Walla, Walter
. 448. au., S.H. 1972 Rice Diseases. Eastern Press Ltd., London and Reading, England. Whitney, N. G. and Richard A. Frederiksen, 1975 Kernel Smut of Rice. Texas Agricultural Experiment Station Bulletin MP-1231. (Blank Page in Original Bulletin... CONTENTS INTRODUCTION .......... . .. . ........ . SEEDLI NG DISEASES ... . ... . .. . ........ . FOLIAGE DISEASES ................... .. SHEATH AND STEM DISEASES .......... . DISEASES ATT ACKI NG THE KERNEL ..... . PHYSIOLOGICAL Di...
The rare disease list includes rare diseases and conditions for which information requests have been made to the Office of Rare Diseases. A rare disease is defined as a disease or condition for which there are fewer than 200,000 affected persons alive in the United States. The Of...
A Case of Autoimmune Polyglandular Syndrome (APS) Type II with Hypothyroidism, Hypoadrenalism, and Celiac Disease - A Rare Combination.
Lakhotia, Manoj; Pahadia, Hans Raj; Kumar, Harish; Singh, Jagdish; Tak, Sandeep
Autoimmune Polyglandular syndrome (APS) are rare condition characterised by presence of immune dysfunction of two or more endocrine glands and other non-endocrine organs. APS is divided into 2 major subtypes based on age of presentation, pattern of disease combinations and mode of inheritance. APS 1(juvenile) usually manifest in early adolescence or in infancy. It is characterised by multiple endocrinal deficiency with mucocutaneous candidiasis and ectodermal dystrophy. Of the endocrine diseases, hypoparathyroidism form an important component followed by Addison's disease, type 1A diabetes, hypogonadism and thyroid disease. On the other hand APS II usually manifest in 3rd or 4th decade of life with female preponderance. Endocrine diseases commonly include autoimmune thyroid disease (graves or autoimmune thyroiditis), type 1A diabetes, and Addison's disease. Hypoparathyroidism is of rare occurrence and there is no mucocutaneous candidiasis. We report here a case of APS type II in a 29-year-old male who initially presented with hypothyroidism, which was soon followed by Addison's disease. The involvement of thyroid gland preceding the involvement of adrenal is of rare occurrence. The patient also had celiac disease which makes the combination further uncommon. PMID:26023582
A Case of Autoimmune Polyglandular Syndrome (APS) Type II with Hypothyroidism, Hypoadrenalism, and Celiac Disease - A Rare Combination
Pahadia, Hans Raj; Kumar, Harish; Singh, Jagdish; Tak, Sandeep
Autoimmune Polyglandular syndrome (APS) are rare condition characterised by presence of immune dysfunction of two or more endocrine glands and other non-endocrine organs. APS is divided into 2 major subtypes based on age of presentation, pattern of disease combinations and mode of inheritance. APS 1(juvenile) usually manifest in early adolescence or in infancy. It is characterised by multiple endocrinal deficiency with mucocutaneous candidiasis and ectodermal dystrophy. Of the endocrine diseases, hypoparathyroidism form an important component followed by Addison's disease, type 1A diabetes, hypogonadism and thyroid disease. On the other hand APS II usually manifest in 3rd or 4th decade of life with female preponderance. Endocrine diseases commonly include autoimmune thyroid disease (graves or autoimmune thyroiditis), type 1A diabetes, and Addison's disease. Hypoparathyroidism is of rare occurrence and there is no mucocutaneous candidiasis. We report here a case of APS type II in a 29-year-old male who initially presented with hypothyroidism, which was soon followed by Addison's disease. The involvement of thyroid gland preceding the involvement of adrenal is of rare occurrence. The patient also had celiac disease which makes the combination further uncommon. PMID:26023582
... heart disease (CHD), heart failure, and diabetic cardiomyopathy. Diabetes by itself puts you at risk for heart disease. Other risk factors include Family history of heart disease Carrying extra ...
Pelvic Inflammatory Disease (PID)
... Pelvic Inflammatory Disease (PID) - CDC Fact Sheet Untreated sexually transmitted diseases (STDs) can cause pelvic inflammatory disease ( ... chlamydia and gonorrhea. Other infections that are not sexually transmitted can also cause PID. How do I ...
... Arterial blockage including peripheral artery disease or PAD Aortic aneurysms Buerger's Disease Raynaud's Phenomenon Disease of the veins ... blood to flow around, or "bypass," the blockage. Aortic Aneurysms An aneurysm is a balloon-like bulge in ...
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... Disease: What Is Gum (Periodontal) Disease? In This Topic What Is Gum (Periodontal) Disease? Risk Factors and ... for More Information National Institute on Aging Related Topics Problems with Taste The information in this topic ...
Resources - kidney disease ... The following organizations are good resources for information on kidney disease: National Kidney Disease Education Program - www.nkdep.nih.gov National Kidney Foundation - www.kidney.org National ...
Resources - heart disease ... The following organizations are good resources for information on heart disease: American Heart Association - www.americanheart.org Centers for Disease Control and Prevention - www.cdc.gov/heartdisease/
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... page from the NHLBI on Twitter. How Does Heart Disease Affect Women? Espańol In the United States, ... about coronary MVD and broken heart syndrome. Coronary Heart Disease CHD is a disease in which plaque ( ...
... in children. Hand-Foot-and-Mouth Disease Hand-foot-and-mouth disease is a suddenly appearing (acute), self-limited viral disease caused by viruses of the enterovirus group, particularly Coxsackievirus A16. The ...
Learning about Crohn's Disease
... have a blood relative with some form of inflammatory bowel disease, usually a brother or a sister, and sometimes ... 10 percent chance to develop some form of inflammatory bowel disease. When both parents have inflammatory bowel disease, the ...
... HEALTH Carotid Artery Disease What are the carotid arteries? The carotid arteries are the bloodd vessels that ... the back of the brain. What is carotid artery disease? Carotid artery disease is defined by the ...
Ebola virus disease Fact sheet N°103 Updated April 2015 Key facts Ebola virus disease (EVD), formerly ... live Ebola virus in vaginal secretions. Symptoms of Ebola virus disease The incubation period, that is, the ...
Pulmonary Arterial Hypertension Associated with Congenital Heart Disease and Eisenmenger Syndrome: Current Practice in Pediatrics
Frank, David B.; Hanna, Brian D.
Pulmonary arterial hypertension (PAH) is an uncommon but serious disease characterized by severe pulmonary vascular disease and significant morbidity and mortality. PAH associated with congenital heart disease (APAH-CHD) is one etiology of PAH that has innate characteristics delineating it from other forms of PAH. The patient with APAH-CHD presents with unique challenges consisting of not only pulmonary vascular disease but also the complexity of the cardiac lesion. Eisenmenger syndrome (ES) represents the severe end of the spectrum for disease in APAH-CHD. Over time, systemic-to-pulmonary shunting through cardiac defects increases pulmonary vascular resistance to levels significant enough to reverse shunting across the defect. Historically, ES patients have been reported to have better outcomes than IPAH despite similarities in pulmonary vascular disease. However, recent studies are challenging this notion. Nonetheless, APAH-CHD survival has improved with the advent of modern PAH targeted therapies. New therapeutic options have allowed us to reconsider the dogma of inoperability in APAH-CHD patients with unrepaired defects. Certainly advances have been made, however, investigators must continue to advance the field through controlled clinical trials in both adult and pediatric APAH-CHD patients. PMID:25604592
Jorge Lobo's disease: a case of keloidal blastomycosis (lobomycosis) in a nonendemic area.
Arju, Rezina; Kothadia, Jiten P; Kaminski, Monica; Abraham, Sherly; Giashuddin, Shah
Lobomycosis or lacaziosis is a chronic subcutaneous fungal infection, caused by the fungus Lacazia loboi, which is phylogenetically related to Coccidioides, Blastomyces, Histoplasma, and Paracoccidioides. The disease was first recognized in 1931 by Jorge Lobo, who found the disease to be a keloidal blastomycosis and named it Jorge Lobo's disease. This case was perplexing initially as this fungal infection is very uncommon in the USA. However, with the ever-increasing frequency of international travel, many more cases of lobomycosis have been diagnosed in areas of nonendemicity, such as the USA, Europe, and South Africa. The clinical histories of such imported fungal infections often illustrate their long latency periods. In lobomycosis, the onset of the disease is usually insidious and often difficult to document. We describe a case of a New York resident who presented with multiple skin nodules over both his arms and forearms, and was subsequently diagnosed with Jorge Lobo's disease. The case, diagnosis, histopathologic findings, complication, and management of this rare clinical disease are discussed. PMID:25469235
Chronic obstructive pulmonary disease
... airways disease; Chronic obstructive lung disease; Chronic bronchitis; Emphysema; Bronchitis - chronic ... a protein called alpha-1 antitrypsin can develop emphysema. Other risk factors for COPD are: Exposure to ...
Biomarker for Glycogen Storage Diseases
Fructose Metabolism, Inborn Errors; Glycogen Storage Disease; Glycogen Storage Disease Type I; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Disease Type IV; Glycogen Storage Disease Type V; Glycogen Storage Disease Type VI; Glycogen Storage Disease Type VII; Glycogen Storage Disease Type VIII
The Hyperferritinemic Syndrome: macrophage activation syndrome, Still's disease, septic shock and catastrophic antiphospholipid syndrome
Background Over the last few years, accumulating data have implicated a role for ferritin as a signaling molecule and direct mediator of the immune system. Hyperferritinemia is associated with a multitude of clinical conditions and with worse prognosis in critically ill patients. Discussion There are four uncommon medical conditions characterized by high levels of ferritin, namely the macrophage activation syndrome (MAS), adult onset Still's disease (AOSD), catastrophic antiphospholipid syndrome (cAPS) and septic shock, that share a similar clinical and laboratory features, and also respond to similar treatments, suggesting a common pathogenic mechanism. Ferritin is known to be a pro-inflammatory mediator inducing expression of pro-inflammatory molecules, yet it has opposing actions as a pro-inflammatory and as an immunosuppressant. We propose that the exceptionally high ferritin levels observed in these uncommon clinical conditions are not just the product of the inflammation but rather may contribute to the development of a cytokine storm. Summary Here we review and compare four clinical conditions and the role of ferritin as an immunomodulator. We would like to propose including these four conditions under a common syndrome entity termed "Hyperferritinemic Syndrome". PMID:23968282
Arterial stiffness and increased cardiovascular risk in chronic kidney disease.
Ma, Yuxia; Zhou, Lin; Dong, Jinghui; Zhang, Xiaoshen; Yan, Shi
Chronic kidney disease (CKD) is a global public health problem. Cardiovascular disease (CVD) is a common comorbidity and a major cause of mortality in CKD population. While CVD-related mortality is relatively uncommon in young population, it accounts for most deaths in young CKD adults. There are numerous risk factors for CVD in CKD patients including conventional (hypertension, diabetes, dyslipidemia) and nonconventional (oxidative stress, inflammation, anemia, mineral metabolism disorder) factors. Recent studies have placed great emphasis on the association of arterial stiffness (AS) and CVD. AS is traditionally known as an aging marker of the artery; however, increased AS is observed in young and even in pediatric CKD patients; it is also shown that AS progresses in consistent with kidney function decline. Unparallel AS in young CKD population and excessive risk of CVD in young CKD adults show an indication that AS probably offers one of the underlying mechanisms for linking CKD and CVD. AS in CKD patients has multifactorial causes. Comorbidities such as hypertension, diabetes, dyslipidemia, and mineral metabolism disorder which are risk factors for CVD also show great contribution to AS in CKD patients. Increased systolic blood pressure and decreased diastolic blood pressure resulting from AS cause elevated ventricular afterload, lead to impaired coronary perfusion, myocardial ischemia, and ventricular hypertrophy, and consequently develop into CVD event. In this review, we summarized the role of AS in CKD and CVD, aiming to explore the linkage of AS between CKD and CVD. PMID:25991557
Connective tissue disease-associated pulmonary arterial hypertension
Howard, Luke S.
Although rare in its idiopathic form, pulmonary arterial hypertension (PAH) is not uncommon in association with various associated medical conditions, most notably connective tissue disease (CTD). In particular, it develops in approximately 10% of patients with systemic sclerosis and so these patients are increasingly screened to enable early detection. The response of patients with systemic sclerosis to PAH-specific therapy appears to be worse than in other forms of PAH. Survival in systemic sclerosis-associated PAH is inferior to that observed in idiopathic PAH. Potential reasons for this include differences in age, the nature of the underlying pulmonary vasculopathy and the ability of the right ventricle to cope with increased afterload between patients with systemic sclerosis-associated PAH and idiopathic PAH, while coexisting cardiac and pulmonary disease is common in systemic sclerosis-associated PAH. Other forms of connective tissue-associated PAH have been less well studied, however PAH associated with systemic lupus erythematosus (SLE) has a better prognosis than systemic sclerosis-associated PAH and likely responds to immunosuppression. PMID:25705389
Infectious and tropical diseases in Oman: a review.
Scrimgeour, E M; Mehta, F R; Suleiman, A J
Oman is generally hot and dry, but the Salalah region in southern Dhofar province is relatively cool and rainy during the summer monsoon, and has a distinctive pattern of infection. Important, notifiable infections in Oman include tuberculosis, brucellosis (endemic in Dhofar), acute gastroenteritis, and viral hepatitis: 4.9% of the adults are seropositive for hepatitis B surface antigen and approximately 1.2% for hepatitis C virus. Infection with human immunodeficiency virus is uncommon, and leprosy, rabies, and Crimean-Congo hemorrhagic fever are rare. Between 1990 and 1998, the incidence of malaria, (>70% due to Plasmodium falciparum) decreased from 32,700 to 882 cases. Cutaneous and visceral leishmaniasis (caused by Leishmania tropica and L. infantum, respectively) and Bancroftian filariasis occur sporadically. Intestinal parasitism ranges from 17% to 42% in different populations. A solitary focus of schistosomiasis mansoni in Dhofar has been eradicated. There are major programs for the elimination of tuberculosis, leprosy, and malaria, and to control brucellosis, leishmaniasis, sexually transmitted diseases, trachoma, acute respiratory infection in children, and diarrheal diseases. The Expanded Program on Immunization was introduced in 1981: diphtheria, neonatal tetanus, and probably poliomyelitis have been eliminated. PMID:10674671
Current and emerging treatment options for Peyronie's disease
Gokce, Ahmet; Wang, Julie C; Powers, Mary K; Hellstrom, Wayne JG
Peyronie's disease (PD) is a condition of the penis, characterized by the presence of localized fibrotic plaque in the tunica albuginea. PD is not an uncommon disorder, with recent epidemiologic studies documenting a prevalence of 3–9% of adult men affected. The actual prevalence of PD may be even higher. It is often associated with penile pain, anatomical deformities in the erect penis, and difficulty with intromission. As the definitive pathophysiology of PD has not been completely elucidated, further basic research is required to make progress in the understanding of this enigmatic condition. Similarly, research on effective therapies is limited. Currently, nonsurgical treatments are used for those men who are in the acute stage of PD, whereas surgical options are reserved for men with established PD who cannot successfully penetrate. Intralesional treatments are growing in clinical popularity as a minimally invasive approach in the initial treatment of PD. A surgical approach should be considered when men with PD do not respond to conservative, medical, or minimally invasive therapies for approximately 1 year and cannot have satisfactory sexual intercourse. As scientific breakthroughs in the understanding of the mechanisms of this disease process evolve, novel treatments for the many men suffering with PD are anticipated. PMID:24400231
Plant Disease Lesson: Blackleg
NSDL National Science Digital Library
Gavin Ash (Charles Sturt University; )
This plant disease lesson on Blackleg (caused by Leptosphaeria maculans (teleomorph) Phoma lingam (anamorph).) includes information on symptoms and signs, pathogen biology, disease cycle and epidemiology, disease management, and the significance of the disease. Selected references are listed and a glossary is also available for use with this resource.
The integrated disease network.
Sun, Kai; Buchan, Natalie; Larminie, Chris; Pržulj, Nataša
The growing body of transcriptomic, proteomic, metabolomic and genomic data generated from disease states provides a great opportunity to improve our current understanding of the molecular mechanisms driving diseases and shared between diseases. The use of both clinical and molecular phenotypes will lead to better disease understanding and classification. In this study, we set out to gain novel insights into diseases and their relationships by utilising knowledge gained from system-level molecular data. We integrated different types of biological data including genome-wide association studies data, disease-chemical associations, biological pathways and Gene Ontology annotations into an Integrated Disease Network (IDN), a heterogeneous network where nodes are bio-entities and edges between nodes represent their associations. We also introduced a novel disease similarity measure to infer disease-disease associations from the IDN. Our predicted associations were systemically evaluated against the Medical Subject Heading classification and a statistical measure of disease co-occurrence in PubMed. The strong correlation between our predictions and co-occurrence associations indicated the ability of our approach to recover known disease associations. Furthermore, we presented a case study of Crohn's disease. We demonstrated that our approach not only identified well-established connections between Crohn's disease and other diseases, but also revealed new, interesting connections consistent with emerging literature. Our approach also enabled ready access to the knowledge supporting these new connections, making this a powerful approach for exploring connections between diseases. PMID:25133803
Autoimmunity in thyroid disease
Joanne Collins; Stephen Gough
The autoimmune thyroid diseases, Graves' disease and autoimmune hypothyroidism, represent the two ends of a disease spectrum where an immune response is directed against the thyroid gland. In Graves' disease, antibodies directed against the thyrotropin receptor (TSH-R) lead to the development of glandular overactivity, while in autoimmune hypothyroidism, cell-mediated and humoral thyroid injury leads to destruction of thyroid tissue and
Baker, Chris I.
Kidney Disease of Diabetes National Kidney and Urologic Diseases Information Clearinghouse is the final stage of chronic kidney disease (CKD). Diabetes is the most common cause of kidney failure, accounting for nearly 44 percent of new cases.1 Even when diabetes is controlled, the disease can lead to CKD
... belongs to a group of conditions known as Inflammatory Bowel Diseases (IBD). Crohn's disease is a chronic inflammatory condition of the gastrointestinal tract. When reading about inflammatory bowel diseases, it is important to know that Crohn's disease ...
Padmavathi, BN; Sharma, Smriti; Astekar, Madhusudan; Rajan, Y; Sowmya, GV
'Crohn's disease' is an inflammatory granulomatous disease of the gastrointestinal tract with extra-intestinal manifestations. Oral lesions may precede the intestinal disease and serve as a source for histological diagnosis. We present a case of orofacial Crohn's disease where orofacial symptoms were present for about 13 years and occasional constipation was present, since 6 months. Oral examination plays an important role in early diagnosis of Crohn's disease. PMID:25364165
Spectrum of high-resolution computed tomography imaging in occupational lung disease
Satija, Bhawna; Kumar, Sanyal; Ojha, Umesh Chandra; Gothi, Dipti
Damage to the lungs caused by dusts or fumes or noxious substances inhaled by workers in certain specific occupation is known as occupational lung disease. Recognition of occupational lung disease is especially important not only for the primary worker, but also because of the implications with regard to primary and secondary disease prevention in the exposed co-workers. Although many of the disorders can be detected on chest radiography, high-resolution computed tomography (HRCT) is superior in delineating the lung architecture and depicting pathology. The characteristic radiological features suggest the correct diagnosis in some, whereas a combination of clinical features, occupational history, and radiological findings is essential in establishing the diagnosis in others. In the presence of a history of exposure and consistent clinical features, the diagnosis of even an uncommon occupational lung disease can be suggested by the characteristic described HRCT findings. In this article, we briefly review the HRCT appearance of a wide spectrum of occupational lung diseases. PMID:24604929
Using negative pressure wound therapy following surgery for complex pilonidal disease: a case series.
Bendewald, Frank P; Cima, Robert R; Metcalf, Dan R; Hassan, Imran
Complex pilonidal disease, an uncommon manifestation of an anorectal condition, is characterized by chronic or recurrent abscesses with extensive, branching sinus tracts. Definitive treatment requires wide excision of all involved tissue followed by secondary intention healing or reconstructive surgery. All treatment options have unique advantages and disadvantages. Following recent reports that negative pressure wound therapy after surgery for complex pilonidal disease may be a useful alternative to moist saline dressing treatments, five patients (three men and two women, median age 21 years [range: 16 to 63 years]) with complex pilonidal disease (symptom duration range 6 months to 30 years) were treated on an outpatient basis. Following wide excision under general anesthesia, a portable negative pressure wound therapy device was applied. Mean wound defect size after excision was 11 cm x 4 cm x 5 cm, or 205 cm(3) (range 90 cm(3) to 410 cm(3)). Negative pressure wound therapy was used for an average of 6 weeks (range 4 to 9 weeks) and mean time to complete epithelialization was 12 weeks (range 9 to 22 weeks), including use of moist saline dressings post negative pressure wound therapy. Treatment was discontinued in one patient due to skin irritation. No other complications were observed. Long-term follow-up is required to assess the risk of recurrent pilonidal disease or wound failure following negative pressure wound therapy. Additional studies of negative pressure wound therapy in the management of pilonidal disease are warranted. PMID:17551174
[The White man's burden - a case study caught between bipolar affective disorder and Huntington's disease].
Nowidi, K; Kunisch, R; Bouna-Pyrrou, P; Meißner, D; Hennig-Fast, K; Weindl, A; Förster, S; Neuhann, T M; Falkai, P; Berger, M; Musil, R
We report upon a case of a 55 year old patient with a bipolar affective disorder, presenting herself with a depressive symptomatology in addition to a severe motor perturbation. The main emphasis upon admittance was perfecting and improving her latest medication. Four weeks prior to her stay at our clinic a thorough neurological examination had taken place in terms of an invalidity pension trial which did not result in any diagnostic findings. Therefore a neurological disease seemed at first highly unlikely. Even though the prior testing was negative, the ensuing neurological examination at our clinic resulted in movement disorders very much indicative of Huntington's Disease. A detailed investigation in regards to the particular family history of the patient was positive for Huntington's Disease. However, whether the patient's mother had also been a genetic carrier of Huntington's Disease was still unknown at the time the patient was admitted to our clinic. It was nevertheless discovered that her mother had also suffered from a bipolar affective disorder. A genetic testing that followed the neurological examination of the patient proved positive for Huntington's Disease. Neuro-imaging resulted in a bicaudate-index of 2.4 (the critical value is 1.8). In a clinical psychological test battery the ensuing results were highly uncommon for patients with solely a bipolar affective disorder people. Under the medical regimen of Quetiapine, Citalopram and Tiaprid the patient's mood could be stabilized and there was some improvement of her motor pertubation. PMID:23612984
[Digital necrosis in hand by uncommon mechanism].
Leroux, Maria Bibiana; Lashak, Celina; Mazzurco, Martin
A 43-year-old, non-smoking man presented with acute ischemic lesions of his left hand. He had been taking beta-blockers for his arterial hypertension. The day before the occurrence of these acute lesions, he self medicated with a drug containing ergotamine and caffeine because of a headache. About one hour after mild trauma to the hand, he noticed intense cyanosis accompanied by severe pain in the fingers that progressed to digital necrosis. Hematological tests, hand radiography, echo Doppler, and nailfold videocapillaroscopy were performed. Digital necrosis owing to an unusual combination of ischemic mechanisms is assumed. PMID:24010508
Uncommon headache syndromes in the pediatric population.
Arruda, Marco A; Albuquerque, Regina C A P; Bigal, Marcelo E
Headache is one of the most common symptoms in children and adolescents, and headache syndromes are an important reason for medical consulting. According to the second edition of the International Classification of Headache Disorders, there are 196 possible headache diagnoses, of which 113 have been described in pediatric population. Herein, we focus on unusual pediatric headache syndromes. We group them as headaches with migraine features, short-duration headaches with autonomic features, short-duration headaches without autonomic features, and potentially ominous forms of headaches. Although rare as single entities, providers focusing on pediatric headaches certainly will face some of these headaches and need to be comfortable on the diagnostic approach. PMID:21403994
Horizontal maxillary sinus septa: An uncommon entity
Gül?en, U?ur; Mehdiyev, ?lham; Üngör, Cem; ?entürk, Mehmet Fatih; Ula?an, Ali Direnç
Introduction Maxillary sinus septas are barriers of cortical bone that arise from the floor or from the walls of sinus and may even divide the sinus into two or more cavities. Morphologically maxillary sinus septa are generally oriented in buccopalatinal orientation horizontal or sagittal orientation of the sinus septa is a rare condition. Presentation of Case This report presents two sinus lift case, in which observed septa in a horizontal orientation was presented. Both cases were fixed by an implant supported prosthethic restoration. Discussion Surgeons must know detailed knowledge about maxillary sinus anatomy for successful sinus augmentation. Computed tomography (CT) is useful for examining the maxillary sinus. Conclusion Horizontal-type sinus septa are rarely seen. Surgeons must be aware of septa types and orientations. PMID:26011804
Uncommon Sense for Parents with Teenagers.
ERIC Educational Resources Information Center
Riera, Michael
This guide to parenting high school-age adolescents is intended to help parents restructure the typically adversarial relationship between parent and teenager by replacing the "parent as manager" role with the "parent as consultant" role. The text is question-driven, comprised of a series of responses to questions commonly asked by parents and…
Adolescent Girls' Zines: Uncommon Pages and Practices.
ERIC Educational Resources Information Center
Sinor, Jennifer
Stephen Duncombe has written one of the only book-length studies examining the phenomenon of "zines.""Note from Underground: Zines and the Politics of Alternative Culture" traces the historical rise in zine popularity beginning with fanzines of the 1930s, fueled in the 1970s by the punk movement, and reaching a height in the 1990s. In his…
Scabies, pediculosis, bedbugs, and stinkbugs: uncommon presentations
Tania Ferreira Cestari; Beatriz Farias Martignago
Parasitic agents determine some of the most common skin disorders. Although well known, they could present different manifestations or be modified by individual or external factors that make their diagnosis or treatment difficult. This review will discuss some of the most prevalent parasitic infections, scabies, and pediculosis and also mention reactions determined by contact with certain insects that, although rarely
Uncommon Teaching in an Unexpected Place
ERIC Educational Resources Information Center
Shore, Rebecca
Continued physical well-being is important, especially within the aging teacher ranks. The story of one veteran exercise instructor emphasizes fitness and weaves best classroom practices throughout the narrative.
Angiosarcoma of mandible: An uncommon clinical entity
Sachdeva, Suresh K; Dutta, Sanjay; Rout, Purnendu
Angiosarcoma is a malignant neoplasm of endothelial cells of blood vessels, representing 2% of all sarcomas. The occurrence of angiosarcoma in the oral cavity is a rare. In general management includes resection and wide-field postoperative radiation therapy. The risk of local-regional failure and distant relapse is still a cause of worry. Herewith, a case of angiosarcoma of mandible in a female patient is presented, who presented with small, innocent-looking mass, which became a highly destructive malignant tumor within few days. PMID:26097825
Caecal diverticulitis, an uncommon mimic of appendicitis
Kroening, Helen Louise; Rai, Sajal
A 35-year-old man presented with a relatively short history of right iliac fossa pain. With an unremarkable medical history, marginally raised inflammatory markers and examination findings suggestive of acute appendicitis, a preliminary diagnosis was made and the patient listed for laparoscopic appendicectomy. However, intraoperatively, the appendix was deemed normal and, following further exploration, appendicectomy and amputation of an obviously inflamed caecal pole were carried out using a TLC 75 linear stapler. Histological analysis also confirmed a diagnosis of caecal diverticulitis. Having undergone minimally invasive surgery without unnecessary radical resection, the patient made a full recovery. PMID:23391951
Methylation – an uncommon modification of glycans*
Staudacher, Erika
A methyl group on a sugar residue is a rarely reported event. Until now this kind of modification has been found in the kingdom of animals only in worms and molluscs, whereas it is more frequently present in some species of bacteria, fungi, algae and plants, but not in mammals. The monosaccharides involved as well as the positions of the methyl groups on the sugar vary with the species. Methylation seems to play a role in some recognition events but details are still unknown. This review summarises the current knowledge on methylation of sugars in all kinds of organism. PMID:22944672
An Uncommon Cause of Epistaxis: Nasopharyngeal Hirudiniasis.
Ça?l?, Ali; Çelik, Hatice
The leech that is taken by ingestion of contaminated water can settle on any location at upper respiratory tract from nose to larynx. It sucks blood by adhering to the mucosa and causes mucosal bleeding by secreting hirudin. If the leech goes forward to the larynx, this can be life threatening due to severe airway obstruction. We are presenting 23 year-old male patient who admitted to our hospital with anterior and posterior nose bleeding and dysphagia due to the leech located in the posterior wall of the nasopharynx. The treatment and differential diagnosis of epistaxis is discussed in this article. PMID:26081895
Uncommon drug abuse: An anesthetist dilemma.
Gupta, Kewal Krishan; Singh, Amanjot; Singh, Gurpreet; Aggarwal, Shobha
Although mephentermine (Termin) and ephedrine are commonly used drugs for the treatment of hypotension during anesthesia but their abuse have markedly increased, especially in the young population due to its stimulant properties. Here, we report a case of 23-year-old man with a history of chronic mephentermine abuse, posted for Achilles tendon repair under spinal anesthesia. During intraoperative period, spinal induced hypotension showed unusual resistance to ephedrine boluses and was managed by using directly acting vasoconstrictor, that is, phenylephrine. PMID:25886435
Uncommon Progression of an Extradural Spinal Meningioma
Boughamoura, Mohamed; Mahmoudi, Houda; Kilani, Mohamed; Hattab, Nejib
Extradural spinal meningiomas are rare. Our understanding of purely extradural spinal meningiomas is still incomplete and they may be easily confused with malignant neoplasms, much more common in this location. We report a rare case of a purely extradural thoracic spine meningioma in a 70-year-old man, with an unusual progression. In addition we discuss the pathogenesis of these tumors and the potential pitfalls in differential diagnosis and review the relevant literature concerning their treatment and outcome. PMID:25243091
Prion diseases as transmissible zoonotic diseases.
Lee, Jeongmin; Kim, Su Yeon; Hwang, Kyu Jam; Ju, Young Ran; Woo, Hee-Jong
Prion diseases, also called transmissible spongiform encephalopathies (TSEs), lead to neurological dysfunction in animals and are fatal. Infectious prion proteins are causative agents of many mammalian TSEs, including scrapie (in sheep), chronic wasting disease (in deer and elk), bovine spongiform encephalopathy (BSE; in cattle), and Creutzfeldt-Jakob disease (CJD; in humans). BSE, better known as mad cow disease, is among the many recently discovered zoonotic diseases. BSE cases were first reported in the United Kingdom in 1986. Variant CJD (vCJD) is a disease that was first detected in 1996, which affects humans and is linked to the BSE epidemic in cattle. vCJD is presumed to be caused by consumption of contaminated meat and other food products derived from affected cattle. The BSE epidemic peaked in 1992 and decreased thereafter; this decline is continuing sharply owing to intensive surveillance and screening programs in the Western world. However, there are still new outbreaks and/or progression of prion diseases, including atypical BSE, and iatrogenic CJD and vCJD via organ transplantation and blood transfusion. This paper summarizes studies on prions, particularly on prion molecular mechanisms, BSE, vCJD, and diagnostic procedures. Risk perception and communication policies of the European Union for the prevention of prion diseases are also addressed to provide recommendations for appropriate government policies in Korea. PMID:24159531
NSDL National Science Digital Library
Maine Medical Center Research Institute's Lyme Disease Research Laboratory provides this website focusing on ticks and the control of tick-borne diseases. This site is divided into several sections. The first section "Tick Borne Diseases" contains resources on diseases caused by tick-borne pathogens, such as Lyme disease. "Prevention & Control" gives site visitors information on avoiding tick bites, and removal of ticks from the body. Links to other sites and key sources of information on ticks and Lyme disease can be found in the "Other Resources" section.
Epidemiology: Understanding Disease Spread
NSDL National Science Digital Library
Marion Fass (Beloit College; Biology)
Factors that influence disease spread throughout populations can be explored with the program Epidemiology. Both population and disease characteristics can be modeled over different time periods. The Susceptible- Infected- Recovered (SIR) model enables us to make predictions based on significant variables such as the flow of new susceptibles in to the population, transmission rates, disease deaths, and the duration of the disease. Ebola is used as a model organism and epidemiology is presented from both a microbiological and social perspective. * build epidemiological models of different diseases, design strategies for disease control, and test the effectiveness of these strategies on virtual populations
Schizophrenia or neurodegenerative disease prodrome? Outcome of a first psychotic episode in a 35-year old woman
Khan, Baber K.; Woolley, Josh D.; Chao, Steven; See, Tricia; Karydas, Anna M.; Miller, Bruce L.; Rankin, Katherine P.
Background Patients with early onset neurodegenerative disease can present with a clinical syndrome that overlaps with schizophrenia, and it is not uncommon for these patients to undergo long-term care in psychiatric settings rather than receiving more appropriate care by neurologists specializing in their disease. Case report A 35-year old woman who presented with new-onset delusions, eating abnormalities, disorganized behavior, lack of insight, disinhibition, and stereotypical motor behaviors was diagnosed with schizophrenia and institutionalized. Later she was found to have a MAPT tau S356T mutation and a focal pattern of brain atrophy consistent with frontotemporal dementia (FTD). Conclusion Physicians should be aware of the potential overlap in symptoms and age of onset between some forms of FTD and schizophrenia, and should include FTD in the diagnostic differential for adult patients with new onset, rapidly progressive personality changes or behavioral symptoms such as binge eating, high levels of social disinhibition, or progressive mutism. PMID:22284422
... Down syndrome Marfan syndrome Noonan syndrome Trisomy 13 Turner syndrome Often, no cause for the heart disease ... good control over their blood sugar levels. Certain genes may play a role in congenital heart disease. ...
... 34% of Crohn's patients with disease of the terminal ileum (the last segment of the small intestine). ... increased risk for developing gallstones because the diseased terminal ileum cannot absorb bile salts, which are necessary ...
Miltenburg DM, Speights VO Jr. Benign breast disease. Obstet Gynecol Clin North Am . 2008;35:285-300. Katz VL, ... malignant disease. In: Lentz GM, Lobo RA, Gershenson DM, Katz VL, eds. Comprehensive Gynecology . 6th ed. Philadelphia, ...
... 10% will survive more than 10 years. Stephen Hawking has been living with Lou Gehrig's disease for ... term survivor of the disease. Born in England, Hawking is a famous physicist who furthered our understanding ...
Pediatric inflammatory bowel disease
Diefenbach, Karen A; Breuer, Christopher K
Inflammatory bowel disease is an important cause of gastrointestinal pathology in children and adolescents. The incidence of pediatric inflammatory bowel disease is increasing; therefore, it is important for the clinician to be aware of the presentation of this disease in the pediatric population. Laboratory tests, radiology studies, and endoscopic procedures are helpful in diagnosing inflammatory bowel disease and differentiating between Crohn's disease and ulcerative colitis. Once diagnosed, the goal of medical management is to induce remission of disease while minimizing the side effects of the medication. Specific attention needs to be paid to achieving normal growth in this susceptible population. Surgical management is usually indicated for failure of medical management, complication, or malignancy. Algorithms for diagnostic evaluation and treatment of pediatric inflammatory bowel disease are presented. The specific psychosocial issues facing these patients are also discussed in this review as are the future goals of research in the complex problem of pediatric inflammatory bowel disease. PMID:16718840
Creutzfeldt-Jakob disease (CJD) is a rare, degenerative brain disorder. Symptoms usually start around age 60. Memory problems, behavior changes, vision ... during a medical procedure Cattle can get a disease related to CJD called bovine spongiform encephalopathy (BSE) ...
Tay-Sachs disease is a rare, inherited disorder. It causes too much of a fatty substance to build up in the ... mental and physical problems. Infants with Tay-Sachs disease appear to develop normally for the first few ...
Cat scratch disease (CSD) is an illness caused by the bacterium Bartonella henselae. Almost half of all cats carry the infection ... symptoms of CSD, call your doctor. Centers for Disease Control and Prevention
... brain with blood. If you have carotid artery disease, the arteries become narrow, usually because of atherosclerosis. ... one of the causes of stroke. Carotid artery disease often does not cause symptoms, but there are ...
Sexually transmitted diseases (STDs) are infections that you can get from having sex with someone who has the infection. The causes ... is no cure. Sometimes medicines can keep the disease under control. Correct usage of latex condoms greatly ...
... carry the bile to your small intestine. Different diseases can block the bile ducts and cause a ... liver failure. A rare form of bile duct disease called biliary atresia occurs in infants. It is ...
Pelvic inflammatory disease (PID) is an infection and inflammation of the uterus, ovaries, and other female reproductive organs. It causes scarring ... United States. Gonorrhea and chlamydia, two sexually transmitted diseases, are the most common causes of PID. Other ...
... What is Paget's Disease of Bone? In This Topic What is Paget's Disease of Bone? Symptoms and ... for More Information National Institute on Aging Related Topics Osteoarthritis Eating Well as You Get Older More ...
... artery disease may be a stroke or a transient ischemic attack (TIA). A TIA is a small ... Major complications of carotid artery disease are: Transient ischemic ... vessel to the brain. It causes the same symptoms as stroke. ...
Resources - liver disease ... The following organizations are good resources for information on liver disease : American Liver Foundation - www.liverfoundation.org Children's Liver Association for Support Services - www.classkids.org Hepatitis ...
Resources - lung disease ... The following organizations are good resources for information on lung disease : American Lung Association - www.lungusa.org National Heart, Lung, and Blood Institute - www.nhlbi.nih.gov ...
... that is caused by the bacterium Borrelia burgdorferi . Lyme disease is transmitted by the bite of a deer tick. Symptoms resolve in 3 to 4 weeks even without treatment, but secondary or tertiary disease may develop if ...
... from the NHLBI on Twitter. What Is Heart Valve Disease? Heart valve disease occurs if one or ... ability to pump blood. Overview How the Heart Valves Work At the start of each heartbeat, blood ...
... inherited two hemoglobin S genes, is the most common form of sickle cell disease. There are variations on SCD where the patient inherits one hemoglobin S gene with another hemoglobin problem that results in a disease similar to classic ...
... the genes for proteins found in myelin, a coating on axons that insulates and nourishes them. DS ... combat these effects. Disease: Peripheral Neuropathies Charcot-Marie-Tooth Disease (CMT) Hereditary Motor and Sensory Neuropathy (Charcot- ...
... page from the NHLBI on Twitter. What Causes Heart Disease? Research suggests that coronary heart disease (CHD) ... Red: Eileen's Story 04/10/2014 Celebrating American Heart Month: NIH Advancing Heart Research 02/06/2014 ...
... page from the NHLBI on Twitter. Living With Heart Disease If you have coronary heart disease (CHD), ... it harder for you to make lifestyle changes. Heart Attack Warning Signs If you have CHD, learn ...
... los Ojos Cómo hablarle a su oculista Diabetic Eye Disease Listen View this module and educate yourself, family, and friends about diabetic eye disease. This module includes descriptive audio and captioning. Diabetic ...
... from the NHLBI on Twitter. What Is Coronary Heart Disease? Espańol Coronary heart disease (CHD) is a ... Red: Eileen's Story 04/10/2014 Celebrating American Heart Month: NIH Advancing Heart Research 02/06/2014 ...
... for you. Tweet Learning about your disease Acute Lymphoblastic Leukemia (ALL) Acute myelogenous leukemia (AML) Adrenoleukodystrophy (ALD) Chronic Lymphocytic Leukemia (CLL) Chronic myelogeneous leukemia (CML) Hodgkin lymphoma Hurler syndrome Krabbe disease (GLD) Metachromatic leukodystrophy (MLD) ...
... this? Submit What's this? Submit Button Related CDC Web Sites Heart Disease Stroke High Blood Pressure Salt ... this? Submit What's this? Submit Button Related CDC Web Sites Heart Disease Stroke High Blood Pressure Salt ...
... this? Submit What's this? Submit Button Related CDC Web Sites Division for Heart Disease and Stroke Prevention ... this? Submit What's this? Submit Button Related CDC Web Sites Division for Heart Disease and Stroke Prevention ...
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Learning about Huntington's Disease
... the symptoms and progression of the disease by breeding laboratory animals, such as mice, and attempting to ... Center (HDAC) Web site by focusing on the science of HD. Huntington Disease [rarediseases.info.nih.gov] ...
... to help you deal with the disease. Strong family relationships and close personal friends can be helpful. A support group can also help you cope with the disease. Work with your family doctor to set goals for coping with your ...