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[Type II split cord malformation of late clinical onset].
A 68-year-old patient suffered for 8 years from radicular S1 pain on the left side, which was aggravated by walking. After an increased effort, he experienced a violent dorsal pain and sensitive troubles in the left T1 and T2 territories. Low back pain and painful paresthesiae of right leg came on next. Physical examination revealed proprioceptive symptoms on the left, a left pyramidal syndrome and a sacral pilonidal sinus. MRI showed on level of L2 vertebra, a spinal cord duplication in a unique dural tube, corresponding to diplomyelia or split cord malformation (SCM) type II. The patient had low conus medullaris anchored on L3-L4 level. A syringomyelia surmounted this medullar dysraphia. Split cord malformations, SCM type I (diplomyelia) or SCM type II (diastematomyelia), are usually revealed in infancy or early childhood. They are very rarely discovered late in the life. With progress in noninvasive spinal cord imaging, such diagnoses will undoubtedly be made more often in adults. PMID:14978399
Goina, L S; Verstichel, P; Roualdčs, B; El Amrani, M; Meyrignac, C
Tethered cord with tandem lipomyelomeningoceles, split cord malformation and thick filum
Lipomyelomeningocele, a closed neural tube defect, usually occurs in lumbosacral area as a single lesion but can be associated with other spinal dysraphism. We report an infant with a very rare presentation of tandem lumbosacral lipomyelomeningoceles, thick filum terminale and split cord malformation.
Hanif, Hamed; Khanbabazadeh, Sajjad; Nejat, Farideh; El Khashab, Mostafa
Aplasia cutis congenita associated with type I split cord malformation: Unusual case.
A full-term newborn girl born with large skin, muscle, bone and dural defect in the lumbo-sacral area. The lesion included a split spinal cord by a perpendicular bony spur and connected from its tip to the upper lamina. Patient was diagnosed with aplasia cutis congenita (ACC) associated with type I split cord malformation (SCM). Neurological examination of the lower extremities was normal. Spinal X-rays showed a bony spur on the L2 vertebral column and laminar defect in the lumbo-sacral area. Lesion was operated and closed according to anatomic layers. Clinical and intraoperative findings of this extremely rare case are discussed. PMID:24891898
Abuzayed, Bashar; Erdincler, Pamir
Aplasia cutis congenita associated with type I split cord malformation: Unusual case
A full-term newborn girl born with large skin, muscle, bone and dural defect in the lumbo-sacral area. The lesion included a split spinal cord by a perpendicular bony spur and connected from its tip to the upper lamina. Patient was diagnosed with aplasia cutis congenita (ACC) associated with type I split cord malformation (SCM). Neurological examination of the lower extremities was normal. Spinal X-rays showed a bony spur on the L2 vertebral column and laminar defect in the lumbo-sacral area. Lesion was operated and closed according to anatomic layers. Clinical and intraoperative findings of this extremely rare case are discussed.
Abuzayed, Bashar; Erdincler, Pamir
Imaging in spine and spinal cord malformations.
Spinal and spinal cord malformations are collectively named spinal dysraphisms. They arise from defects occurring in the early embryological stages of gastrulation (weeks 2-3), primary neurulation (weeks 3-4), and secondary neurulation (weeks 5-6). Spinal dysraphisms are categorized into open spinal dysraphisms (OSDs), in which there is exposure of abnormal nervous tissues through a skin defect, and closed spinal dysraphisms (CSD), in which there is a continuous skin coverage to the underlying malformation. Open spinal dysraphisms basically include myelomeningocele and other rare abnormalities such as myelocele and hemimyelo(meningo)cele. Closed spinal dysraphisms are further categorized based on the association with low-back subcutaneous masses. Closed spinal dysraphisms with mass are represented by lipomyelocele, lipomyelomeningocele, meningocele, and myelocystocele. Closed spinal dysraphisms without mass comprise simple dysraphic states (tight filum terminale, filar and intradural lipomas, persistent terminal ventricle, and dermal sinuses) and complex dysraphic states. The latter category further comprises defects of midline notochordal integration (basically represented by diastematomyelia) and defects of segmental notochordal formation (represented by caudal agenesis and spinal segmental dysgenesis). Magnetic resonance imaging (MRI) is the preferred modality for imaging these complex abnormalities. The use of the aforementioned classification scheme is greatly helpful to make the diagnosis. PMID:15081131
Rossi, Andrea; Biancheri, Roberta; Cama, Armando; Piatelli, Gianluca; Ravegnani, Marcello; Tortori-Donati, Paolo
Arteriovenous malformation of the spermatic cord as the cause of acute scrotal pain: a case report
Arteriovenous malformations of the lower urinary tract are uncommon lesions, usually presenting as scrotal masses. A case of recurrent acute scrotal pain mimicking testicular torsion that was attributed to the presence of an arteriovenous malformation of the spermatic cord is described. To our knowledge this is the first reported case of an arteriovenous malformation of the spermatic cord presenting with
Petros Sountoulides; Athanasios Bantis; Irene Asouhidou; Hellen Aggelonidou
Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation
Split hand/split foot (SHSF; also known as ectrodactyly) is a human developmental disorder characterized by missing central digits and other distal limb malformations. An association between SHSF and cytogenetically visible rearrangements of chromosome 7 at bands q21-q22 provides compelling evidence for the location of a causative gene at this location, and the locus has been designated SHFD1. In the present study, marker loci were localized to the SHFD1 critical region through the analysis of somatic cell hybrids derived from individuals with SHSF and cytogenetic abnormalities involving the 7q21-q22 region. Combined genetic and physical data suggest that the order of markers in the SHFD1 critical region is cen-D7S492-D7S527-(D7S479-D7S491)-SHFD1-D7S553-D7S518-qter. Dinucleotide repeat polymorphisms at three of these loci were used to test for linkage of SHSF to this region in a large pedigree that demonstrates autosomal dominant SHSF. Evidence against linkage of the SHSF gene to 7q21-q22 was obtained in this pedigree. Therefore, combined molecular and genetic data provide evidence for locus heterogeneity in autosomal dominant SHSF. The authors propose the name SHSF2 for this second locus. 34 refs., 4 figs., 1 tab.
Palmer, S.E.; Wijsman, E.M.; Stephens, K.; Evans, J.P. (Univ. of Washington School of Medicine, Seattle, WA (United States)); Scherer, S.W.; Tsui, L.C. (Univ. of Toronto (Canada)); Kukolich, M. (Genetic Screening and Counseling Service, Denton, TX (United States))
Delayed cervical spinal cord tethering following tonsillar resection for Chiari malformation.
Although tethering of the spinal cord in the lumbosacral region, particularly following repair of congenital anomalies, such as myelomeningocele, is a well-known phenomenon, only sporadic reports of tethering along the rest of the neuraxis, including the hindbrain, cervical and thoracic spinal cord have been documented. In this report, we describe a woman who developed symptoms related to tethering of the cervical spinal cord 5 years after suboccipital decompressive surgery of the posterior fossa for Chiari I malformation. The authors discuss the diagnosis, treatment, and postoperative course of this entity. PMID:18803081
Sekula, R F; Kathpal, M; Blumenkopf, B; Wilberger, A C; Jannetta, P J
Split-hand/feet malformation in three tamilian families and review of the reports from India
Split-hand/foot malformation (SHFM) is a rare condition which can be either syndromic or nonsyndromic. We report three unrelated pedigrees, one with autosomal dominant (AD) inheritance and the other two with autosomal recessive (AR) pattern. We also briefly review the published reports from India.
Amalnath, S. Deepak; Gopalakrishnan, Maya; Dutta, Tarun Kumar
Split cervical spinal cord with Klippel-Feil syndrome: seven cases.
We report seven cases of rare high cervical split spinal cord associated with extensive vertebral fusions (Klippel-Feil anomaly). In light of previous embryological theories and recent research findings we attempt to explain the origin of split cord and vertebral fusions. Two distinctly separate mechanisms are suggested for the development of split cords observed in our cases: a midline lesion bisecting the neuroepithelium and the notochordal plate could be responsible for complete splitting of the cervical cord with anterior bony defect while a localized disturbance of cervical neural tube closure would account for cases with partial dorsal splitting of the cord with posterior vertebral defect. Vertebral fusion anomalies are likely to be associated with disturbance of Pax-1 gene expression in the developing vertebral column. We confirm with our cases the frequent association of failure of normal segmentation and split cord in the cervical region. Clinically, only three patients had neurological deficit which was mild and has remained stable, and they had no radiological evidence of tethering; the minimal disproportionate growth of the cord and spine and the rarity of a bony spur in the cervical region are the likely reasons. A conservative policy was therefore pursued in these cases with careful long-term follow-up. PMID:9009993
David, K M; Copp, A J; Stevens, J M; Hayward, R D; Crockard, H A
Evidence of endothelial progenitor cells in the human brain and spinal cord arteriovenous malformations
Objective Brain and spinal cord arteriovenous malformations (AVMs) are characterized by aberrant angiogenesis and vascular remodeling. Endothelial progenitor cells (EPCs) can be recruited by stromal cell-derived factor-1 (SDF-1), and participate in vascular remodeling in both physiological and pathological settings. We hypothesized that there was increased EPC levels in the brain and spinal cord AVM nidus. Methods Microsurgical specimens without endovascular embolization and radiosurgery from the brain (n=12) and spinal cord (n=5) AVMs were examined. Hemangioblastoma, meningioma, cerebral cortex obtained from epilepsy surgery, and the basilar artery (BA) from the autopsy were chosen for control comparisons. EPCs were identified as cells that were double-positive for the stem cell marker CD133 and the endothelial cell marker VEGFR-2 (vascular endothelial growth factor receptor-2 or KDR). In addition, SDF-1 was characterized by immunohistochemistry. Results Both brain and spinal AVM tissues displayed more CD133, SDF-1, and CD68-positive signals than epilepsy and basilar artery control tissues. The level of EPCs was increased in the brain and spinal cord AVM nidus, mainly at the edge of the vessel wall. The expression of SDF-1 was co-localized with CD31-positive and ?-smooth muscle cells, and was predominantly found within the vessel wall. Conclusion Our data demonstrate that EPCs are present in the nidus of the brain and spinal cord AVMs, which may mediate pathological vascular remodeling and impact the clinical course of AVMs.
Gao, Peng; Chen, Yongmei; Lawton, Michael T.; Barbaro, Nicholas M.; Yang, Guo-Yuan; Su, Hua; Ling, Feng; Young, William L.
Role of Multimodality Intraoperative Neurophysiological Monitoring during Embolisation of a Spinal Cord Arteriovenous Malformation
Summary The decision whether or not to embolise during endovascular procedures for arteriovenous malformations (AVMs) of the spinal cord under general anesthesia, relies primarily on neurophysiological results of provocative tests with Lidocaine and short-acting barbiturates. Because of the complex haemodynamics of spinal AVMs, when either sensory (CSEPs) or muscle motor evoked potentials (mMEPs) are used independently, they can mislead the interpretation of provocative tests. This report illustrates the specific but complementary role played by provocative tests using CSEPs and mMEPs during embolisation of a low thoracic spinal cord AVM. We present the case of a 46 year old male with six year history of right lower extremity weakness. At that time, Magnetic Resonance (MR) imaging of the spine disclosed an intramedullary AVM at Til. He remained neurologically stable up to seven months before admission, when he developed sudden onset of low back pain, followed by progressive paraparesis, numbness in lower extremities, urinary retention and fecal incontinence. A new MR imaging study indicated venous thrombosis of the AVM. A two-stage embolisation was performed. During the first procedure, after provocative tests did not affect either CSEPs or mMEPs, an embolisation was performed through a sulcocommisure feeder from the anterior spinal artery (ASA) at T9. Conversely, provocative tests with Lidocaine performed from a right posterior spinal artery (PSA) feeder to the AVM nidus resulted in a significant (>50%) decrease of CSEPs, while mMEPs remained unchanged. The repeatedly positive tests warranted further investigation of the vascular anatomy which disclosed a normal right PSA distal to the nidus; the distal normal PSA was protected with coils. A repeated Lidocaine test was negative and the posterior feeder was embolised with no subsequent changes in CSEPs or mMEPs. After the procedure, the patient experienced only a mild transitory increase in right leg numbness, but no additional motor deficits. Five days later, the embolisation through the ASA feeder at T9 was completed on the basis of negative provocative tests. No additional neurological deficits were observed. Favoring either CSEPs or MEPs during endovascular procedures in the spinal cord is not justified by a solid scientific background. This case report illustrates that monitoring both CSEPs and mMEPs combined with provocative tests allows the safest and most effective embolisation of spinal cord AVMs under general anesthesia.
Sala, F.; Niimi, Y.; Berenstein, A.; Deletis, V.
[Genetic analysis and prenatal diagnosis of two Chinese families with split hand foot malformation].
OBJECTIVE To identify genomic aberrations underlying pathogenesis of split hand foot malformation (SHFM) in two Chinese families, and to provide genetic counseling and prenatal diagnosis for them. METHODS Two sets of peripheral blood and amniotic fluid samples were collected from the patients. One was processed with routine culture and karyotype analysis. For another set, DNA was extracted and analyzed with array-based comparative genomic hybridization (array-CGH). RESULTS Karyotype analysis of peripheral blood samples for both probands was normal. Karyotype analysis of the amniotic fluid from family 1 has found no abnormality. However, analysis of amniotic fluid samples from the second family showed del(7)(q21q22.1). By array-CGH analysis, both blood and amniotic fluid samples from the first family showed a 662.3 kb dup(10q24.31q24.32). Array-CGH analysis of the blood sample from the second family was normal, whilst analysis of amniotic fluid sample revealed a 19.97 Mb del(7q11.23q21.3). CONCLUSION Array-CGH features high resolution, high accuracy and rapid diagnosis for unbalanced chromosomal aberration. The dup(10q24.31q24.32) and 19.97 Mb del(7q11.23q21.3) have been the cause of SHFM in the two families. Genetic counseling and prenatal diagnosis have been provided for both families in order to prevent this birth defect. PMID:24928002
Wang, Hui; Xie, Jiansheng; Chen, Wubin; Geng, Qian; Xu, Xiaoxin
Split mesencephalon: Diplomyelia of the basicranium.
Abstract We report a novel case of congenitally split mesencephalon, in a 3-year old with hydrocephalus. We speculate that the ontogenetic mechanism is shared with split cord malformations (SCM). Our case adds to the two other cases of basicranial SCM which involved more caudal brainstem. PMID:23957778
Jayasekera, Bodiabaduge A P; Pereira, Erlick A C; Magdum, Shailendra
Split-hand/foot malformation - molecular cause and implications in genetic counseling.
Split-hand/foot malformation (SHFM) is a congenital limb defect affecting predominantly the central rays of the autopod and occurs either as an isolated trait or part of a multiple congenital anomaly syndrome. SHFM is usually sporadic, familial forms are uncommon. The condition is clinically and genetically heterogeneous and shows mostly autosomal dominant inheritance with variable expressivity and reduced penetrance. To date, seven chromosomal loci associated with isolated SHFM have been described, i.e., SHFM1 to 6 and SHFM/SHFLD. The autosomal dominant mode of inheritance is typical for SHFM1, SHFM3, SHFM4, SHFM5. Autosomal recessive and X-linked inheritance is very uncommon and have been noted only in a few families. Most of the known SHFM loci are associated with chromosomal rearrangements that involve small deletions or duplications of the human genome. In addition, three genes, i.e., TP63, WNT10B, and DLX5 are known to carry point mutations in patients affected by SHFM. In this review, we focus on the known molecular basis of isolated SHFM. We provide clinical and molecular information about each type of abnormality as well as discuss the underlying pathways and mechanism that contribute to their development. Recent progress in the understanding of SHFM pathogenesis currently allows for the identification of causative genetic changes in about 50 % of the patients affected by this condition. Therefore, we propose a diagnostic flow-chart helpful in the planning of molecular genetic tests aimed at identifying disease causing mutation. Finally, we address the issue of genetic counseling, which can be extremely difficult and challenging especially in sporadic SHFM cases. PMID:24163146
Sowi?ska-Seidler, Anna; Socha, Magdalena; Jamsheer, Aleksander
SEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeast.
The exocyst is an essential multiprotein complex mediating polarized secretion in yeast. Here we describe a gene, SEM1, that can multicopy-suppress exocyst mutants sec3-2, sec8-9, sec10-2, and sec15-1. SEM1 is highly conserved among eukaryotic species. Its human homologue, DSS1, has been suggested as a candidate gene for the split hand/split foot malformation disorder. SEM1 is not an essential gene. However, its deletion rescued growth of the temperature-sensitive exocyst mutants sec3-2, sec8-9, sec10-1, and sec15-1 at the restrictive temperature. Cell fractionation showed that Sem1p is mainly cytosolic but also associates with the microsomal fraction. In linear sucrose gradients, Sem1p cosedimented with the exocyst component Sec8p. In diploid cells that normally do not form pseudohyphae (S288C background), deletion of SEM1 triggered pseudohyphal growth. This phenotype was abolished after reintroduction of either SEM1 or the mouse homologue Dss1 into the cells. In diploids that have normal capacity for pseudohyphal growth (Sigma1278b background), deletion of SEM1 enhanced filamentous growth. The functionality of both SEM1 and Dss1 in a differentiation process in yeast suggests that Dss1 indeed could be the gene affected in the split hand/split foot malformation disorder. These results characterize SEM1 as a regulator of both exocyst function and pseudohyphal differentiation and suggest a unique link between these two cellular functions in yeast. PMID:9927667
Jäntti, J; Lahdenranta, J; Olkkonen, V M; Söderlund, H; Keränen, S
A prenatal case of split-hand malformation associated with 17p13.3 triplication - a dilemma in genetic counseling.
Copy number gain of 17p13.3 has been shown to be associated with developmental delay/autism and Split-Hand-Foot malformation. We report a case of fetus with bilateral split-hand malformation detected on prenatal ultrasound. Array comparative genomic hybridization detected 2 maternally inherited copy number gains in the 17p13.3 region with one of them involving the BHLHA9 gene and part of the YWHAE gene. The mother is normal in intelligence with mild right foot anomaly only. Although the BHLHA9 copy gain is known to be associated with split-hand-foot malformation, the penetrance and expressivity is highly variable. More challenging is the effect of partial YWHAE copy number gain on neurodevelopment is inconclusive based on current literature. This case highlights the difficulties of prenatal genetic counseling in array comparative genomic hybridization findings in clinical situation with incomplete understanding of genotype-phenotype correlation. PMID:24380768
Luk, H M; Wong, Vincent C H; Lo, Ivan F M; Chan, Kelvin Y K; Lau, Elizabeth T; Kan, Anita S Y; Tang, Mary H Y; Tang, W F; She, Wandy M K; Chu, Yoyo W Y; Sin, W K; Chung, Brian H Y
Progressive non-infectious anterior vertebral fusion, split cord malformation and situs inversus visceralis
BACKGROUND: Progressive non-infectious anterior vertebral fusion is a unique spinal disorder with distinctive radiological features. Early radiographic findings consist of narrowing of the anterior aspect of the intervertebral disk with adjacent end plate erosions. There is a specific pattern of progression. The management needs a multi-disciplinary approach with major input from the orthopaedic surgeon. CASE REPORT: We report a 12-year-old-female
Ali Al Kaissi; Farid Ben Chehida; Maher Ben Ghachem; Franz Grill; Klaus Klaushofer
A Sacral Mass in a Newborn: A Variant of Type II Diastematomyelia with Triple Splitting of the Cord
Ultrasonographic (US) evaluation of spinal anomalies is limited. MRI is increasingly being used in the diagnosis of spinal anomalies. MRI has been able to show clearly the detailed anatomy of this rare case of type II diastematomyelia with triple splitting of the cord.
Shatla, Emad Sadek; Bedair, El Said M. A.; Soliman, Ashraf
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1
Background: Deletions that encompass 2q31.1 have been proposed as a microdeletion syndrome with common clinical features, including intellectual disability/developmental delay, microcephaly, cleft palate, growth delay, and hand/foot anomalies. In addition, several genes within this region have been proposed as candidates for split hand-foot malformation 5 (SHFM5). Methods: To delineate the genotype-phenotype correlation between deletions of this region, we identified 14 individuals with deletions at 2q31.1 detected by microarray analysis for physical and developmental disabilities. Results: All subjects for whom detailed clinical records were available had neurological deficits of varying degree. Seven subjects with deletions encompassing the HOXD cluster had hand/foot anomalies of varying severity, including syndactyly, brachydactyly, and ectrodactyly. Of 7 subjects with deletions proximal to the HOXD cluster, 5 of which encompassed DLX1/DLX2, none had clinically significant hand/foot anomalies. In contrast to previous reports, the individuals in our study did not display a characteristic gestalt of dysmorphic facial features. Conclusion: The absence of hand/foot anomalies in any of the individuals with deletions of DLX1/DLX2 but not the HOXD cluster supports the hypothesis that haploinsufficiency of the HOXD cluster, rather than DLX1/DLX2, accounts for the skeletal abnormalities in subjects with 2q31.1 microdeletions.
Theisen, A.; Rosenfeld, J.A.; Shane, K.; McBride, K.L.; Atkin, J.F.; Gaba, C.; Hoo, J.; Kurczynski, T.W.; Schnur, R.E.; Coffey, L.B.; Zackai, E.H.; Schimmenti, L.; Friedman, N.; Zabukovec, M.; Ball, S.; Pagon, R.; Lucas, A.; Brasington, C.K.; Spence, J.E.; Sparks, S.; Banks, V.; Smith, W.; Friedberg, T.; Wyatt, P.R.; Aust, M.; Tervo, R.; Crowley, A.; Skidmore, D.; Lamb, A.N.; Ravnan, B.; Sahoo, T.; Schultz, R.; Torchia, B.S.; Sgro, M.; Chitayat, D.; Shaffer, L.G.
Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families.
Split-hand/split-foot malformation (SHFM), representing variable degree of median clefts of hands and feet, is a genetically heterogeneous group of limb malformations with seven loci mapped on different human chromosomes. However, only 3 genes (TP63, WNT10B, DLX5) for the seven loci have been identified. The study, presented here, described three consanguineous Pakistani families segregating SHFM in autosomal recessive manner. Linkage in the families was searched by genotyping microsatellite markers and mutation screening of candidate gene was performed by Sanger DNA sequencing. Clinical features of affected members of these families exhibited SHFM phenotype with involvement of hands and feet. Genotyping using microsatellite markers mapped the families to WNT10B gene at SHFM6 on chromosome 12q13.11-q13. Subsequently, sequence analysis of WNT10B gene revealed a novel 4-bp deletion mutation (c.1165_1168delAAGT) in one family and 7-bp duplication (c.300_306dupAGGGCGG) in two other families. Structure-based analysis showed a significant conformational shift in the active binding site of mutated WNT10B (p.Lys388Glufs*36), influencing binding with Fzd8. The mutations identified in the WNT10B gene extend the body of evidence implicating it in the pathogenesis of SHFM. PMID:24211389
Aziz, Abdul; Irfanullah; Khan, Saadullah; Zimri, Faridullah Khan; Muhammad, Noor; Rashid, Sajid; Ahmad, Wasim
Pathologie neurovasculaire malformative de l'enfant : malformations anévrismales de la veine de Galien (MAVG), malformations artérioveineuses piales (MAVP), malformations des sinus duraux (MSD)
The purpose of this article is to give an overview of the cerebral and spinal cord pediatric malformations; we particularly describe three of them: Vein of Galen arteriovenous Malformation, Pial Arteriovenous Malformation, and Dural Sinus Malformation. We report the experience of Bicętre since 1981 to 2003, with 317 VGAM, 302 Pial AVM and 30 DSM. We describe natural history, clinical
A. Ozanne; H. Alvarez; T. Krings; P. Lasjaunias
Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it ... medicines, infections or radiation during pregnancy interferes with brain development. Types of brain malformations include missing parts ...
Frog malformations have been reported from 42 states. The broad geographic distribution of these malformations warrants national attention. Scientists at the USGS National Wildlife Health Center in Madison, Wisconsin are studying this problem in an effort to document its scope and to determine the causes of the observed malformations.
National Wildlife Health Center
Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis. The surgical approach to repairing these defects changed dramatically in 1980 with the introduction of the posterior sagittal approach, which allowed surgeons to view the anatomy of these defects clearly, to repair them under direct vision, and to learn about the complex anatomic arrangement of the junction of rectum and genitourinary tract. Better imaging techniques, and a better knowledge of the anatomy and physiology of the pelvic structures at birth have refined diagnosis and initial management, and the analysis of large series of patients allows better prediction of associated anomalies and functional prognosis. The main concerns for the surgeon in correcting these anomalies are bowel control, urinary control, and sexual function. With early diagnosis, management of associated anomalies and efficient meticulous surgical repair, patients have the best chance for a good functional outcome. Fecal and urinary incontinence can occur even with an excellent anatomic repair, due mainly to associated problems such as a poorly developed sacrum, deficient nerve supply, and spinal cord anomalies. For these patients, an effective bowel management program, including enema and dietary restrictions has been devised to improve their quality of life.
Levitt, Marc A; Pena, Alberto
NSDL National Science Digital Library
This activity (on page 2 of the PDF) is a full inquiry investigation into using indicator species to assess the health of an environment. Groups of learners will collect as many frogs as they can from a pond, looking for malformations, which will be documented and further sorted as either symmetrical or asymmetrical. This data will then be graphed to identify a prevalent trend and possible cause of malformations. Relates to linked video, DragonflyTV: Malformed Frogs.
Twin Cities Public Television, Inc.
[Arteriovenous malformations].
Arteriovenous malformations are serious high-flow vascular malformations. Four progressive stages have been described: dormancy, expansion, destruction and heart failure. Progression from one stage to another is not systematic but depends on events - physiological or traumatic, sometimes iatrogenic. Pulsed Doppler imaging of venous waveforms and magnetic resonance imaging (MRI) are the most informative examinations for both diagnosis and follow-up of arteriovenous malformations.Arteriography and angio-MRI help guide treatment decisions. Treatment of the malformation must not be envisioned until it reaches a symptomatic stage. It most often combines an endovascular procedures and wide surgical excision. A syndromic form must be considered in cases of systemic angioma. PMID:20206460
Naouri, Michael; Lorette, Gérard; Barbier, Charlotte; Zakine, Gilbert; Herbreteau, Denis
Anorectal malformations (ARM) are the result of an abnormal development of the terminal part of the digestive tract interesting anus and/or rectum that occur early between the sixth and tenth week of embryonic development. They carry a malformation spectrum of severity depending on the level of disruption of the anorectal canal and of the associated caudal malformations (sacrum and spine). ARM are associated in over half the cases with other malformations that can be integrated in some cases in known syndromes. If surgical treatment to restore anatomy as normal as possible is indispensable, post-operative care is essential for these patients whose defecation mechanisms are altered, to reach if not continence, at least a socially acceptable cleanliness. PMID:23992833
Cretolle, C; Rousseau, V; Lottmann, H; Irtan, S; Lortat-Jacob, S; Alova, I; Michel, J L; Aigrain, Y; Podevin, G; Lehur, P A; Sarnacki, S
Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage,
Marc A Levitt; Alberto Peńa
North American Reporting Center for Amphibian Malformations
NSDL National Science Digital Library
Created in June, 1997 and funded by the US Geological Survey and Environmental Protection Agency, this site is a response to the discovery of numerous deformed amphibians (mostly frogs) in areas as widespread as Minnesota, California, and Florida. Malformations include extra or missing limbs, missing eyes, and split limbs. The site is intended to serve as a central repository for data on the type and relative frequency of such malformations throughout the US. Researchers hope to use the site to help discover the cause(s) of these deformities. The site contains a map of where malformations have been reported, background on the occurrence and possible causes of defects, numerous images of malformed amphibians, a searchable bibliography, instructions on how to report the discovery of a malformed amphibian, and links to eight related web sites. NARCAM's site also contains a toll-free number for citizen reports.
Center., Northern P.
... waves, and computer technology to produce very good pictures of internal body parts, such as the brain and spinal cord . It can help to determine ... safe. Computed tomography (CT or CAT) scans produce pictures of ... much of the brain is out of place. Brainstem auditory evoked response ( ...
[Superficial venous malformations].
Superficial venous malformations are part of a larger group now called superficial vascular anomalies and previously known as angiomas. These include vascular tumors or infantile hemangioma, low-flow vascular malformations (capillary, lymphatic, and superficial venous malformations) and high-flow vascular malformations (arteriovenous malformations). Some of these lesions are complex. This classification facilitates their multidisciplinary therapeutic management. Embolization is an effective curative treatment for malformations of small and intermediate size. The objective for large or complex malformations is to restore anatomic function and improve cosmetic results. PMID:20304597
Barbier, Charlotte; Martin, Arnaud; Papagiannaki, Chrisanti; Cottier, Jean-Philippe; Lorette, Gérard; Herbreteau, Denis
Congenital malformations in Utah.
The rate of malformed children in Utah of 11.7 per 1,000 liver births, derived from 128,857 birth certificates, ws not high compared with other non-Utah studies. Rates of selected malformations also were not high. The rate of malformed children varied by county of residence. San Juan County reported the highest percentage of mothers receiving late or infrequent prenatal care, the lowest mean level of public education, and the highest rate of malformed children in the state. The rate was not significantly associated with the large population of Indians residing in that county since by controlling for residence, the variation by race was eliminated. The overall rate was positively associated with maternal age rimarily due to an increased frequency of Down's syndrome. The impact of the "maternal age effect" on the state malformation rate, however, was not large. By controlling for maternal age, the slight association between increased rate of malformed children and increasing birth order was eliminated. The rate of malformed children was higher for parents having a low level of education, infrequent prenatal care, or who were not married. There was also a strong negative association of birth weight with the rate of malformation. Analysis of rates of selected malformations suggested that the low birth weight was a sequela to intrauterine growth retardation caused by severe congenital malformation. The validity and etiologic implications of these results await further investigation. PMID:6449752
Seegmiller, R E; Hansen, W N
X-chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred.
A Pakistani kindred comprising seven generations and 36 members with the split-hand/split-foot anomaly is described. The full expression of the trait, monodactylous or split hand and split foot, mainly of the lobster-claw type, was present in 33 males and 3 females. Other females showed a distinctly milder expression of the trait, usually in the form of partial syndactyly, metacarpal and phalangeal hypoplasia, and malformation. The distribution of the affected members in the pedigree is compatible with X-chromosomal inheritance. Hemizygous males and presumably homozygous females exhibit the typical split-hand/split-foot anomaly, whereas only a part of the obligatory heterozygous females show the milder expression. There were no associated anomalies, such as ectodermal dysplasia, cleft lip/palate, macular degeneration, malformations of the long bones or internal organs, and overt mental retardation. PMID:3817811
Ahmad, M; Abbas, H; Haque, S; Flatz, G
Spinal cord stress injury assessment (SCOSIA): clinical applications of mechanical modeling of the spinal cord and brainstem
Abnormal stretch and strain is a major cause of injury to the spinal cord and brainstem. Such forces can develop from age-related degeneration, congenital malformations, occupational exposure, or trauma such as sporting accidents, whiplash and blast injury. While current imaging technologies provide excellent morphology and anatomy of the spinal cord, there is no validated diagnostic tool to assess mechanical stresses
Kenneth H. Wong; Jae Choi; William Wilson; Joel Berry; Fraser C. Henderson Sr.
[Chiari type 1 malformation and magnetic resonance imaging].
The Chiari type 1 malformation is common. Unlike the Chiari type 2 and 3 malformations, it may remain latent for a long time, becoming symptomatic only in adulthood. The introduction of MRI has resulted in an increased number of diagnoses of this malformation in pediatric patients. It appears to be related to underdevelopment of the posterior cranial fossa. It must be differentiated from acquired tonsillar herniation, particularly when herniation results from intracranial hypotension; these cases are sometimes reported as acquired Chiari I malformation with spontaneous resolution. Tonsillar ectopia may cause symptoms by its direct effect on any or all of the medulla and the cerebellar and upper spinal cord. The most suggestive of the oculomotor disturbances is oscillopsia with downbeat nystagmus. Dysphonia and dysphagia are common. Potentially serious autonomic disturbances are also frequent: sleep apnea, respiratory failure, syncope and even sudden death. Another risk is syrinx formation, resulting from obstruction of CSF circulation in the cisterna magna. Syringomyelia is detected in 32 to 74% of patients with Chiari I malformation. Treatment is surgical. Posterior fossa decompression is achieved by suboccipital craniectomy combined with laminectomy of the upper cervical segments. Surgical intervention is indicated when the malformation is symptomatic and there is no doubt that it is the cause of the symptoms. When a Chiari I malformation is identified fortuitously on MRI, long-term monitoring is essential. The risk of developing symptoms increases over time. Patients should be advised not to participate in contact sports. PMID:16327707
Masson, C; Colombani, J-M
Arnold-Chiari malformation is a congenital malformation of the skull near the foramen magnum in which the cerebellum and the medulla are caudally displaced. This herniation of the brainstem causes down-beat nystagmus and oscillopsia, the most commonly presenting sign and symptom, respectively. Differential diagnoses for the Arnold-Chiari malformation include, but are not limited to, demyelinating disease, tumor, and vascular disorders. Symptoms will generally worsen with time and may even be brought on during exercise or valsalva maneuvers. A correct diagnosis can lead to timely surgical intervention which can improve the quality of eye movements. Treatment generally involves the surgical decompression of the surrounding spinal tissue. PMID:1565422
Russell, G E; Wick, B; Tang, R A
Diffuse cerebral arteriovenous malformation.
Diffuse cerebral arteriovenous malformation (AVM) is a rare disorder of the brain and defined as diffuse infiltration of brain by complex vascular structures. It is usually associated with hereditary syndromes and presented with hemorrhage or seizure. We report a 20-year-old male patient who presented with drooping of the left eyelid. He had no skin lesion. The ophthalmological examination was within normal limits except periorbital bruit on oscultation. Radiological examination revealed a diffuse AVM comprising multiple arteriovenous shunts, draining bihemispherically through numerous dilated veins but without a typical arteriovenous malformation nidus. No hereditary disorder was detected. No treatment was performed and the patient is still under follow-up. PMID:20963707
Solmaz, Ilker; Secer, Halil Ibrahim; Tehl?, Ozkan; Tem?z, Caglar; Izc?, Yusuf; Gonul, Engin
Genetic malformations of cortical development
The malformations of the cerebral cortex represent a major cause of developmental disabilities, severe epilepsy and reproductive disadvantage. The advent of high-resolution MRI techniques has facilitated the in vivo identification of a large group of cortical malformation phenotypes. Several malformation syndromes caused by abnormal cortical development have been recognised and specific causative gene defects have been identified. Periventricular nodular heterotopia
Renzo Guerrini; Carla Marini
Reoperation for Chiari Malformations
Background: We undertook this study to characterize those patients who required reoperations for Chiari malformation and to determine whether modifications in surgical technique at the initial procedure might have obviated the need for repeat surgery. Methods: We reviewed the hospital records, imaging studies, operative reports, and follow-up data of those patients who were undergoing a second operation as part of
David Sacco; R. Michael Scott
A split gland having only three parts is described. The gland has substantially the same stability to the relative motion of the constituent half-gland members during the attachment process to a female fitting as have more complicated designs. Ease of manufacture and use result from the reduction in complexity of the present invention.
Petranto, Joseph J. (Los Alamos, NM)
A split gland having only three parts is described. The gland has substantially the same stability to the relative motion of the constituent half-gland members during the attachment process to a female fitting as have more complicated designs. Ease of manufacture and use result from the reduction in complexity of the present invention. 15 figs.
Petranto, J.J.
Congenital uterine malformations.
With the advent of newer imaging techniques, the radiologist is now able to make very precise and accurate diagnoses of congenital uterine malformations and their complications. Because these anomalies are associated with reproductive dysfunction, they are often discovered during an infertility evaluation. By imaging parallel to the long axis of the uterus, the external contour can be evaluated, obviating laparoscopy for differentiating septate from bicornuate uteri. Obstructed uterovaginal anomalies (e.g., hematometros, hematometrocolpos), an important complication of abnormal müllerian duct development, can occur at any time from the newborn period to adulthood. Determining the site of obstruction is imperative for planning the proper surgical approach. To understand these malformations better, we review the relevant embryology. The most widely accepted classification scheme is discussed in detail, with an emphasis on diagnosis, prognosis, and therapeutic options. PMID:8536487
Woodward, P J; Sohaey, R; Wagner, B J
Treatment of congenital malformations.
The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and < 5% uterine and vaginal aplasia. Correct diagnosis of the malformation is most important but often very difficult. Correct treatment can only be performed if the malformation is clear. Longitudinal vaginal septums have to be removed due to potential obstetric problems. Transverse vaginal septums can cause hematocolpos and pain and have to be incised crosswise and excised so as not to shorten the vagina at the same time. Congenital vaginal agenesis occurs in Mayer-Rokitansky-Kuster-Hauser syndrome patients and in androgen insensitivity syndrome. The first choice for surgical treatment should be the new laparoscopic-assisted creation of a neovagina. Septate uterus has to be distinguished from a bicornuate uterus. Even if it is not proven to be a cause for infertility, the chance of miscarriage can be diminished by performing hysteroscopic metroplasty. Repair of a uterine septum in infertility patients often improves pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively. PMID:21437824
Brucker, Sara Yvonne; Rall, Katharina; Campo, Rudi; Oppelt, Peter; Isaacson, Keith
Acquired Chiari I Malformation and Syringomyelia after Valveless Lumboperitoneal Shunt in Infancy
The authors present the case of a 13-year-old boy who experienced frequent disabling episodes of typical postural induced headaches, which revealed a Chiari I malformation, syringomyelia and cervical spinal cord edema. This boy had received a valveless lumboperitoneal (LP) shunt at the age of 18 months for macrocephaly. At this time, cranial CT scan showed moderate enlargement of the subarachnoid
Laurent Riffaud; Carolina Moughty; Pierre-Louis Henaux; Claire Haegelen; Xavier Morandi
Spontaneous resolution of a Chiari I malformation associated syringomyelia in one child
Summary A child with complete spontaneous resolution of a Chiari I malformation associated Syringomyelia without surgical intervention is presented. The child was followed clinically by serial magnetic resonance imaging (MRI) and remains neurologically stable after 8-years of follow-up. To our knowledge, only 6 pediatric cases with spontaneous resolution of a spinal cord syrinx documented by MRI without surgical intervention have
A. Guillen; J. M. Costa
Syringomyelia in three small breed dogs secondary to Chiari-like malformation: clinical and diagnostic findings
Three small breed dogs were referred for the evaluation of neurologic deficits. Upon physical and neurologic examination, all dogs displayed hyperesthesia, pain, and neck stiffness. Magnetic resonance imaging was performed on the brain and spinal cord, and all three dogs presented Chiari- like malformations and syringomyelia. These dogs were treated with prednisolone and furosemide, and showed rapid improvement of clinical
Chul Park; Byeong-Teck Kang; Jong-Hyun Yoo; Hee-Myung Park
Congenital malformations in the newborn
Summary 5,376 consecutive births were examined for the presence of congenital malformations, to find out its incidence and to determine\\u000a the role of environmental factors in the causation of these anomalies.\\u000a \\u000a The incidence was 13.76 per one thousand births. Males dominated among the malformed infants with an incidence of 67.56 per\\u000a cent. The maximum number of malformed children were born to
K. K. Khanna; L. S. N. Prasad
Arteriovenous Malformation Management
Arteriovenous malformations (AVM) are rare vascular lesions that can present with a myriad of clinical presentations. In our institutions, initial workup consists of a clinical exam, color Doppler imaging, and magnetic resonance imaging. After the initial noninvasive workup, arteriography, at times closed system venography, and ethanol endovascular repair of the AVM is performed under general anesthesia. Depending on the size of the lesion, additional Swan-Ganz line and arterial line monitoring are performed. Patients are usually observed overnight and uneventfully discharged the following day if no complication occurs. Patients are followed at periodic intervals despite cure of their lesion. Long-term follow-up is essential in AVM management.
Yakes, Wayne F. [Interventional Radiology and Interventional Neuroradiology, Radiology Imaging Associates, P.C., Colorado NeurologicalInstitute, Swedish Medical Center, 501 E. Hampden Avenue, Englewood, CO 80110 (United States); Rossi, Plinio [Department of Radiology, Universita Degli Studi Di Roma, 'La Sapienza', 00161 Rome (Italy); Odink, Henk [Department of Radiology, De Wever Hospital, Henri Dunanstrat 5, 6419 PC Heerlen (Netherlands)
Presyrinx in a child with acquired Chiari I malformation.
Spinal cord signal abnormality resulting from alterations in cerebrospinal fluid flow at the craniocervical junction has been termed a presyrinx state. This condition has been described in the adult literature in association with a variety of conditions that cause obstruction to normal cerebrospinal fluid flow. We present a case of presyrinx in a child in the setting of acquired Chiari I malformation caused by lumboperitoneal overshunting. Awareness of the potentially reversible nature of this condition might allow for intervention before irreversible neurological damage has occurred. PMID:22932962
Nixon, Jason N; Stanescu, Luana A; Weinberger, Edward
Uterine arteriovenous malformation.
Uterine arteriovenous malformation (AVM) is a little known condition of which, to date, very few cases have been described. It has a very diverse symptomatology, even though in most cases, it is diagnosed during a severe and acute haemorrhagic event. Its treatment can vary from expectant management to hysterectomy; however, current evidence suggests that the embolisation of uterine arteries is the most effective approach, especially if fertility is to be preserved. We present a case report classified as AVM, with additional images that show the appearance of this pathology in a short span of time. This case has a number of peculiarities: unusual persistence of human chorionic gonadotropin hormone (?-HCG), asymptomatic patient, quick establishment of the lesion and its duration with unchanging characteristics and finally its spontaneous resolution without further consequences. This entity shows an aetiopathogenesis, that is, not well established or described. We discuss its physiopathology and aetiopathogenesis. PMID:23396842
Sellers, Francisco; Palacios-Marqués, Ana; Moliner, Belen; Bernabeu, Rafael
Controversies in Chiari I malformations
Background: The diagnosis and management of Chiari I malformations (CMI) remains controversial, particularly since it is often an incidental finding on cervical MR scans performed for neck pain and/or headaches. Recently, some surgeons "over-operated" on asymptomatic patients with Chiari I malformations, or even on those without the requisite radiographic diagnostic features for Chiari I malformations: unfortunately, only a subset were admonished for indiscriminate surgery. Nevertheless, when this hindbrain malformation is truly symptomatic, contributing to impaired cerebrospinal fluid (CSF) circulation, various valid surgical management strategies may be adopted. Methods: This review focuses on the current literature regarding the clinical presentation, diagnosis, and surgical management of Chiari I malformation. Variations in the surgical technique are also presented and critiqued. Results: The recommended treatment for Chiari I malformations I consists of decompressive suboccipital craniectomy and duroplasty when abnormal cine-flow MRI is observed preoperatively and blockage of CSF flow persists intraoperatively despite bony decompression. Conclusions: Controversy continues regarding the optimal surgical technique to address Chiari malformations I. Proper diagnostic studies and patient selection are needed to optimize patient outcomes, while avoiding unnecessary surgical procedures.
Baisden, Jamie
What is a capillary malformation?
Today, the designation "capillary malformation" is widely used as a modern name for what was formerly called a nevus flammeus or port-wine stain. This new terminology, however, is inaccurate and ambiguous. There are at least nine different skin disorders fulfilling the criteria of a capillary malformation. Examples include nevus anemicus, cutis marmorata telangiectatica congenita, angiokeratoma circumscriptum, and several vascular lesions that, in the author's view, do not represent nevi, such as the nuchal or glabellar salmon patch and the cutaneous changes of Rendu-Osler disease. Hence, I propose that we should use "capillary malformation" as an umbrella term and not as a name for a specific cutaneous entity. PMID:19022106
Happle, Rudolf
Temporary umbilical loop colostomy for anorectal malformations.
Transumbilical surgical procedures have been reported to be a feasible, safe, and cosmetically excellent procedure for various pediatric surgical diseases. Umbilical loop colostomies have previously been created in patients with Hirschsprung's disease, but not in patients with anorectal malformations (ARMs). We assessed the feasibility and cosmetic results of temporal umbilical loop colostomy (TULC) in patients with ARMs. A circumferential skin incision was made at the base of the umbilical cord under general anesthesia. The skin, subcutaneous tissue, and fascia were cored out vertically, and the umbilical vessels and urachal remnant were individually ligated apart from the opening in the fascia. A loop colostomy was created in double-barreled fashion with a high chimney more than 2 cm above the level of the skin. The final size of the opening in the skin and fascia was modified according to the size of the bowel. The bowel wall was fixed separately to the peritoneum and fascia with interrupted 5-0 absorbable sutures. The bowel was opened longitudinally and everted without suturing to the skin. The loop was divided 7 days postoperatively, and diversion of the oral bowel was completed. The colostomy was closed 2-3 months after posterior saggital anorectoplasty through a peristomal skin incision followed by end-to-end anastomosis. Final wound closure was performed in a semi-opened fashion to create a deep umbilicus. TULCs were successfully created in seven infants with rectourethral bulbar fistula or rectovestibular fistula. Postoperative complications included mucosal prolapse in one case. No wound infection or spontaneous umbilical ring narrowing was observed. Skin problems were minimal, and stoma care could easily be performed by attaching stoma bag. Healing of umbilical wounds after TULC closure was excellent. The umbilicus may be an alternative stoma site for temporary loop colostomy in infants with intermediate-type anorectal malformations, who undergo radical anorectoplasty via a non-abdominal approach. PMID:23001137
Hamada, Yoshinori; Takada, Kohei; Nakamura, Yusuke; Sato, Masahito; Kwon, A-Hon
Embolization of uterine arteriovenous malformation
Background: Uterine arteriovenous malformation is a rare but potential life-threatening source of bleeding. A high index of suspicion and accurate diagnosis of the condition in a timely manor are essential because instrumentation that is often used for other sources of uterine bleeding can be lead to massive hemorrhage. Case: We describe here a case of uterine arteriovenous malformation. A 32-year-old woman presented abnormal vaginal bleeding following the induced abortion. A diagnosis of uterine arteriovenous malformation made on the basis of Doppler ultrasonraphy was confirmed through pelvic angiography. The embolization of bilateral uterine arteries was performed successfully. Conclusion: Uterine arteriovenous malformation should be suspected in patient with abnormal vaginal bleeding, especially who had the past medical history incluing cesarean section, induced abortion, or Dillation and Curethage and so on. Although angiography remains the gold standard, Doppler ultrasonography is also a good noninvasive technique. The transcatheter uterine artery embolization offers a safe and effective treatment
Chen, Yan; Wang, Guoyun; Xie, Fubo; Wang, Bo; Tao, Guowei; Kong, Beihua
MRCP of congenital pancreaticobiliary malformation
\\u000a Abstract\\u000a Background Congenital pancreaticobiliary malformations are sometimes associated with acute or chronic pancreatitis and biliary carcinoma. Currently, MRCP is one of the first choices for investigating and diagnosing pancreaticobiliary diseases noninvasively. We compared the accuracy of conventional MRCP and ERCP in making the diagnosis of congenital pancreaticobiliary malformations.Methods In patients with pancreas divisum (n = 17), pancreaticobiliary maljunction (n = 12), choledochocele (n = 2) and annular pancreas
T. Kamisawa; Y. Tu; N. Egawa; K. Tsuruta; A. Okamoto; N. Kamata
Congenital malformations of human dermatoglyphs
A classification for congenital malformations of dermatoglyphs is presented, dividing them into ridge aplasia, ridge hypoplasia, ridge dissociation, ridges-off-the-end, and a combination of the last two. The medical and genetic significance of these are considered in the light both of previous published cases and of new material. Malformations of dermatoglyphs are important as physical signs in paediatric diagnosis. ImagesFIG. 1FIG. 2FIG. 3FIG. 4FIG. 5FIG. 6FIG. 7
David, T. J.
Nail Splitting (Onychoschizia)
newsletter | contact Share | Nail Splitting (Onychoschizia) Information for adults A A A Onychoschizia means plate-like splitting of the free edge of the nail. Overview Onychoschizia, commonly known as nail splitting but ...
Cervicofacial Venous Malformations
Summary We retrospectively evaluated 53 consecutive patients with cervicofacial venous malformation who had sclerotherapy. This review included a demographic analysis, MRI reexamination and tabulation of interventional therapeutic strategies. All patients whose MRI studies were included in this review demonstrated characteristic findings: space occupying lesion with hyperintense T2 signal abnormality, patchy contrast enhancement, and no flow signal on the gradient echo images. We concluded that a complete MRI work-up of these patients requires post-contrast scanning and gradient-echo imaging in addition to the standard T1 and T2 weighted spin echo imaging. The majority of patients had sporadic (non-familial) venous anomalies. Sinus pericranii (SP) was identified in six patients (11%) and blue rubber bleb nevus syndrome (BRB-NS) was found in two patients (4%). MRI findings of sinus pericranii are discussed in detail. Although sodium tetradecyl and/or absolute ethanol are the most commonly used sclerosants, a wide variety of therapeutic strategies (depending on the nature of the abnormality) are also needed for these patients.
Konez, O.; Burrows, P. E.; Mulliken, J.B.
Pulmonary arteriovenous malformations.
Pulmonary arteriovenous malformations (PAVMs) are abnormal vascular structures that most often connect a pulmonary artery to a pulmonary vein, bypassing the normal pulmonary capillary bed and resulting in an intrapulmonary right-to-left shunt. As a consequence, patients with PAVM can have hypoxemia and paradoxical embolization complications, including stroke and brain abscess. PAVMs may be single or multiple, unilateral or bilateral, and simple or complex. Most PAVMs are hereditary and occur in hereditary hemorrhagic telangiectasia, an autosomal dominant vascular disorder, and screening for PAVM is indicated in this subgroup. PAVMs may also be idiopathic, occur as a result of trauma and infection, or be secondary to hepatopulmonary syndrome and bidirectional cavopulmonary shunting. Diagnostic testing involves identifying an intrapulmonary shunt, with the most sensitive test being transthoracic contrast echocardiography. Chest CT scan is useful in characterizing PAVM in patients with positive intrapulmonary shunting. Transcatheter embolotherapy is the treatment of choice for PAVM. Lifelong follow-up is important because recanalization and collateralization may occur after embolization therapy. Surgical resection is rarely necessary and reserved for patients who are not candidates for embolization. Antibiotic prophylaxis for procedures with a risk of bacteremia (eg, dental procedures) is recommended in all patients with PAVM because of the risk of cerebral abscess. PMID:24008954
Cartin-Ceba, Rodrigo; Swanson, Karen L; Krowka, Michael J
Progressive tentorial cavernous malformation
Background: Because extra-axial cavernous malformations (CMs) are rare, the common clinical course remains unclear. We report the case of a patient with progressive CM originating from the cerebellar tentorium. Case Description: A 64-year-old woman was admitted to our hospital with the complaint of diplopia. Magnetic resonance (MR) imaging revealed a lesion attached to the left cerebellar tentorium, close to the cerebral peduncle. This well-demarcated lesion rapidly enlarged for 3 months and eroded into the midbrain. Cerebral angiography showed a branch of the middle meningeal artery supplying the lesion and pooling of the contrast medium in the venous phase. A dark reddish and mulberry-like mass of the tentorium was observed intraoperatively, allowing the diagnosis of a tentorial CM. The feeding artery was identified in the tentorium and was coagulated. Postoperative MR imaging showed remarkable mass reduction and central necrosis of the lesion. However, the lesion recurred in 3 months; consequently, gamma knife radiosurgery was performed. After an additional 2 months, the lesion shrank in response to the radiosurgery. Conclusions: We report an extremely rare case of tentorial CM which showed rapid growth in a short period. Coagulation of the feeding artery was not sufficient to control the lesion. Gamma knife radiosurgery may prove highly effective for recurrent lesions.
Furuta, Takuya; Nakada, Mitsutoshi; Watanabe, Takuya; Hayashi, Yutaka; Hamada, Jun-Ichiro
Pediatric dural arteriovenous malformations.
Pediatric dural arteriovenous malformations (dAVMs) are rare lesions that have a high mortality rate and require complex management. The authors report 3 cases of pediatric dAVMs that presented with macrocrania and extracranial venous distension. Dural sinus thrombosis developed in 2 of the cases prior to any intervention, which is an unusual occurrence for this particular disease. All 3 cases were treated using staged endovascular embolization with a favorable outcome in 1 case and a poor outcome in the other 2 cases. Complications developed in all cases and included dural sinus thrombosis, parenchymal hemorrhage, intracranial venous hypertension, and seizures. The strategies and challenges used in managing these patients will be presented and discussed, along with a review of the literature. While outcomes remain poor, the authors conclude that prompt treatment with endovascular embolization provides the best results for children with these lesions. A well-established venous collateral circulation draining directly to the internal jugular veins may further improve the rate of favorable outcome after embolization. PMID:24867128
Appaduray, Shaun P; King, James A J; Wray, Alison; Lo, Patrick; Maixner, Wirginia
Genetic malformations of cortical development.
The malformations of the cerebral cortex represent a major cause of developmental disabilities, severe epilepsy and reproductive disadvantage. The advent of high-resolution MRI techniques has facilitated the in vivo identification of a large group of cortical malformation phenotypes. Several malformation syndromes caused by abnormal cortical development have been recognised and specific causative gene defects have been identified. Periventricular nodular heterotopia (PNH) is a malformation of neuronal migration in which a subset of neurons fails to migrate into the developing cerebral cortex. X-linked PNH is mainly seen in females and is often associated with focal epilepsy. FLNA mutations have been reported in all familial cases and in about 25% of sporadic patients. A rare recessive form of PNH due ARGEF2 gene mutations has also been reported in children with microcephaly, severe delay and early seizures. Lissencephaly-pachygyria and subcortical band heterotopia (SBH) are disorders of neuronal migration and represent a malformative spectrum resulting from mutations of either LIS1 or DCX genes. LIS1 mutations cause a more severe malformation in the posterior brain regions. Most children have severe developmental delay and infantile spasms, but milder phenotypes are on record, including posterior SBH owing to mosaic mutations of LIS1. DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. Mutations of DCX have also been found in male patients with anterior SBH and in female relatives with normal brain magnetic resonance imaging. Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the reelin (RELN) gene. X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia in genotypic males is associated with mutations of the ARX gene. Affected boys have severe delay and seizures with suppression-burst EEG. Early death is frequent. Carrier female patients can have isolated corpus callosum agenesis. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to chromosome Xq28 in some pedigrees, autosomal dominant or recessive inheritance in others, and an association with chromosome 22q11.2 deletion in some patients. About 65% of patients have severe epilepsy. Recessive bilateral frontoparietal polymicrogyria has been associated with mutations of the GPR56 gene. Epilepsy is often present in patients with cortical malformations and tends to be severe, although its incidence and type vary in different malformations. It is estimated that up to 40% of children with drug-resistant epilepsy have a cortical malformation. However, the physiopathological mechanisms relating cortical malformations to epilepsy remain elusive. PMID:16724181
Guerrini, Renzo; Marini, Carla
Spontaneous regression of syringomyelia in a young patient with Chiari type I malformation.
Syringomyelia is a disorder in which a cyst or cavity forms within the spinal cord. This cyst, called syrinx, can expand and elongate over time, destroying the spinal cord. We describe the case of a young patient with partial spontaneous regression of syringomyelia in Chiari I malformation, confirmed by magnetic resonance imaging three years after the diagnosis. During this period the patient did not experience any clinical symptoms. Although described in literature, spontaneous regression is an unusual event and very few cases have been reported. This case report supports the belief that conservative management together with both clinical and imaging periodic controls should be preferred in stable mild-symptomatic patients. PMID:24029095
Tortora, F; Napoli, M; Caranci, F; Cirillo, M; Pepe, D; Cirillo, S; Briganti, F
Spontaneous spinal epidural haematoma due to arteriovenous malformation in a child
Spontaneous spinal epidural haematoma (SSEH) is a rare clinical entity, especially in infants, in whom only a few cases have been reported. In a paediatric emergency setting, SSEH should be considered as part of the differential diagnosis for acute extremity weakness and paraesthesia. Epidural vascular malformations are often suspected in these cases but have rarely been demonstrated. The authors report herein a case of SSEH in a 9-year-old boy arising from an epidural vascular malformation. He initially presented with sudden intense cervicodorsal pain followed by hypotonic lower extremities and progressive motor weakness, with no sensory change. The MRI showed an acute extradural haematoma extending from C7 to T4 with compression of the spinal cord. After submission to decompression surgery, he presented full recovery in 1 month. The histopathological analysis revealed a vascular malformation.
Cabral, Antonio Jorge; Barros, Andreia; Aveiro, Cristina; Vasconcelos, Rui
Why study human limb malformations?
Congenital limb malformations occur in 1 in 500 to 1 in 1000 human live births and include both gross reduction defects and more subtle alterations in the number, length and anatomy of the digits. The major causes of limb malformations are abnormal genetic programming and intra-uterine disruption to development. The identification of causative gene mutations is important for genetic counselling and also provides insights into the mechanisms controlling limb development. This article illustrates some of the lessons learnt from the study of human limb malformation, organized into seven categories. These are: (1) identification of novel genes, (2) allelic mutation series, (3) pleiotropy, (4) qualitative or (5) quantitative differences between mouse and human development, (6) physical and teratogenic disruption, and (7) unusual biological phenomena.
Wilkie, Andrew OM
Surgical removal of striate arteriovenous malformations.
Some arteriovenous malformations fed by the striate arteries and lying within the claustrolenticular region can be excised by using microsurgical techniques. Three patients operated on with successful removal of the malformation are discussed here. PMID:7444736
Viale, G L; Turtas, S; Pau, A
Spinal Cord Lesions in Congenital Toxoplasmosis Demonstrated with Neuroimaging, Including Their Successful Treatment in an Adult
Neuroimaging studies for persons in the National Collaborative Chicago-Based Congenital Toxoplasmosis Study (NCCCTS) with symptoms and signs referable to the spinal cord were reviewed. Three infants had symptomatic spinal cord lesions, another infant a Chiari malformation, and another infant a symptomatic peri-spinal cord lipoma. One patient had an unusual history of prolonged spinal cord symptoms presenting in middle age. Neuroimaging was used to establish her diagnosis and response to treatment. This 43 year-old woman with congenital toxoplasmosis developed progressive leg spasticity, weakness, numbness, difficulty walking, and decreased visual acuity and color vision without documented re-activation of her chorioretinal disease. At 52 years of age, spinal cord lesions in locations correlating with her symptoms and optic atrophy were diagnosed with 3 Tesla MRI scan. Treatment with pyrimethamine and sulfadiazine decreased her neurologic symptoms, improved her neurologic examination, and resolved her enhancing spinal cord lesions seen on MRI.
Burrowes, Delilah; Boyer, Kenneth; Swisher, Charles N.; Noble, A. Gwendolyn; Sautter, Mari; Heydemann, Peter; Rabiah, Peter; Lee, Daniel; McLeod, Rima
MRCP of congenital pancreaticobiliary malformation
Background Congenital pancreaticobiliary malformations are sometimes associated with acute or chronic pancreatitis and biliary carcinoma.\\u000a Currently, magnetic resonance cholangiopancreatography (MRCP) is one of the first choices for investigating and diagnosing\\u000a pancreaticobiliary diseases noninvasively. We compared the accuracy of conventional MRCP and endoscopic retrograde cholangiopancreatography\\u000a (ERCP) in making the diagnosis of congenital pancreaticobiliary malformations.\\u000a \\u000a \\u000a \\u000a Methods In patients with pancreas divisum (n = 17),
T. Kamisawa; Y. Tu; N. Egawa; K. Tsuruta; A. Okamoto; N. Kamata
[Clinical aspects of capillary malformations].
Capillary malformations (CM) are defects of the dermal capillary bed. These slow-flow malformations can affect any part of the body and are always lateralized, despite Unna's naevus. Present at birth, they grow proportionally with the child. In rare instance, they can be part of a more complex syndrome such as Sturge-Weber syndrome. Ectatic CMs of telangiectatic types can be cutaneous, isolated, multiples, diffuse or generalized. In rare instance, they can be associated with epidermal modifications. They can also be part of a syndrome such as Fabry disease, Osler-Weber-Rendu disorder or Cutis marmorata telangiectatica congenita (CMTC). This chapter details the various clinical aspects of CMs. PMID:17007980
Bataille, A-C; Boon, L-M
Epizootic of ovine congenital malformations associated with Schmallenberg virus infection.
Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25 November and 20 December 2011, congenital malformations in newborn lambs on sheep farms throughout the country were reported to the Animal Health Service in Deventer. Subsequently, small ruminant veterinary specialists visited these farms and collected relevant information from farmers by means of questionnaires. The deformities varied from mild to severe, and ewes were reported to have given birth to both normal and deformed lambs; both male and female lambs were affected. Most of the affected lambs were delivered at term. Besides malformed and normal lambs, dummy lambs, unable to suckle, were born also on these farms. None of the ewes had shown clinical signs during gestation or at parturition. Dystocia was common, because of the lambs' deformities. Lambs were submitted for post-mortem examination, and samples of brain tissue were collected for virus detection. The main macroscopic findings included arthrogryposis, torticollis, scoliosis and kyphosis, brachygnathia inferior, and mild-to-marked hypoplasia of the cerebrum, cerebellum and spinal cord. Preliminary data from the first ten affected farms suggest that nutritional deficiencies, intoxication, and genetic factors are not likely to have caused the malformations. Preliminary diagnostic analyses of precolostral serum samples excluded border disease virus, bovine viral diarrhoea virus, and bluetongue virus. In December 2011, samples of brain tissue from 54 lambs were sent to the Central Veterinary Institute of Wageningen University Research, Lelystad. Real-time PCR detected the presence of a virus, provisionally named the Schmallenberg virus, in brain tissue from 22 of the 54 lambs, which originated from seven of eight farms that had submitted lambs for post-mortem examination. This Schmallenberg virus was first reported in Germany and seems to be related to the Shamonda, Aino, and Akabane viruses, all of which belong to the Simbu serogroup of the genus Orthobunyavirus of the family Bunyaviridae. These preliminary findings suggest that the Schmallenberg virus is the most likely cause of this epizootic of ovine congenital malformations, which is the first such outbreak reported in Europe. PMID:22393844
van den Brom, R; Luttikholt, S J M; Lievaart-Peterson, K; Peperkamp, N H M T; Mars, M H; van der Poel, W H M; Vellema, P
Congenital malformations associated with anencephaly and iniencephaly
The necropsy reports of 294 cases of anencephaly and 50 cases of iniencephaly have been examined, and a tubulated list of associated malformations produced. Cases were divided by sex and the presence or absence of spina bifida. Forty-one per cent of the series had other malformations, and other malformations were more common in those cases with spina bifida than in
T J David; A Nixon
Ischemic spinal cord infarction in children without vertebral fracture
Spinal cord infarction in children is a rare condition which is becoming more widely recognized. There are few reports in the pediatric literature characterizing etiology, diagnosis, treament and prognosis. The risk factors for pediatric ischemic spinal cord infarction include obstruction of blood flow associated with cardiovascular compromise or malformation, iatrogenic or traumatic vascular inujury, cerebellar herniation, thrombotic or embolic disease, infection, and vasculitis. In many children the cause of spinal cord ischemia in the absence of vertebral fracture is unknown. Imaging diagnosis of spinal cord ischemia is often difficult due to the small transverse area of the cord, cerebrospinal fluid artifact and inadequate resolution of MRI. Physical therapy is the most important treatment option. The prognosis is dependent on the level of spinal cord damage, early identification and reversal of ischemia, and follow-up with intensive physical therapy and medical support. In addition to summarizing the literature regarding spinal cord infarction in children without vertebral fracture, this review article adds two cases to the literature which highlight the difficulties and controversies in the management of this condition.
Nance, Jessica R.; Golomb, Meredith R.
Abernethy malformation: a case report
Background Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. Case presentation A 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4?weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder. Conclusion The treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients.
[Antiepileptic drugs and congenital malformations].
BACKGROUND In pregnant women with epilepsy the use of antiepileptic drugs may increase the risk of harming the foetus. For the treating neurologist it may be challenging to find a balance between optimal seizure control and the lowest possible drug dosage. The aim of this study was to assess the prevalence and type of congenital malformations in children exposed to antiepileptic drugs during pregnancy.MATERIAL AND METHOD In Norway we have prospectively followed 813 pregnancies in women with epilepsy as part of an international cohort study. The women had three check-ups during the pregnancy, and the children were followed up twice during their first year of life.RESULTS We found a total of 34 congenital malformations in the children, of which 12 were heart defects, yielding a malformation rate of 4.5 %. Six of the malformations (18 %) were detected prenatally, 20 (59 %) were reported immediately after birth, and eight (24 %) were discovered during the child's first year of life.INTERPRETATION Our study shows that 95.5 %.of the women included who used antiepileptic drugs during pregnancy gave birth to a healthy child. This Norwegian cohort is too small to evaluate the teratogenic risk associated with the individual drugs. PMID:24989202
Nakken, Karl O; Lillestřlen, Kari Mette; Brodtkorb, Eylert; Svendsen, Torleiv; Haggag, Kathrine Johannessen; Taubřll, Erik
Occult vascular malformations and seizures.
Occult vascular malformations are frequently associated with intractable seizures and are a common cause of lesional epilepsy. MR imaging can identify and characterize these lesions with accuracy. The presurgical evaluation must be tailored to the individual patient's presentation and circumstances. Surgical results following lesionectomy plus corticectomy may be slightly superior to lesionectomy alone, but the overall prognosis is excellent. PMID:10419577
Cosgrove, G R
Reconstruction of middle ear malformations.
Malformations of the middle ear are classified as minor and major malformations. Minor malformations appear with regular external auditory canal, tympanic membrane and aerated middle ear space. The conducting hearing loss is due to fixation or interruption of the ossicular chain. The treatment is surgical, following the rules of ossiculoplasty and stapes surgery. In major malformations (congenital aural atresia) there is no external auditory canal and a deformed or missing pinna. The mastoid and the middle ear space may be underdevelopped, the ossicular chain is dysplastic. Surgical therapy is possible in patients with good aeration of the temporal bone, existing windows, a near normal positioned facial nerve and a mobile ossicular chain. Plastic and reconstructive surgery of the pinna should proceed the reconstruction of the external auditory canal and middle ear. In cases of good prognosis unilateral aural atresia can be approached already in childhood. In patients with high risk of surgical failure, bone anchored hearing aids are the treatment of choice. Recent reports of implantable hearing devices may be discussed as an alternative treatment for selected patients. PMID:22073077
Schwager, Konrad
Arteriovenous malformation of the oral cavity.
Vascular anomalies are a heterogeneous group of congenital blood vessel disorders more typically referred to as birthmarks. Subcategorized into vascular tumors and malformations, each anomaly is characterized by specific morphology, pathophysiology, clinical behavior, and management approach. Hemangiomas are the most common vascular tumors. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. Arteriovenous malformation of the head and neck is a rare vascular anomaly but when present is persistent and progressive in nature and can represent a lethal benign disease. Here we present a case report of a 25-year-old male patient with arteriovenous malformation involving the base of tongue. PMID:24660070
Manjunath, S M; Shetty, Sujan; Moon, Ninad J; Sharma, Bhushan; Metta, Kiran Kumar; Gupta, Nitin; Goyal, Sandeep; Singh, Simranjit
A chromosomal deletion map of human malformations.
Malformations are common causes of pediatric morbidity and mortality, and genetic factors are a significant component of their etiology. Autosomal deletions, in almost all cases, cause a nonspecific embryopathy that presents after birth as growth failure, mental retardation, and multiple malformations. We have constructed a chromosome map of autosomal deletions associated with 47 different congenital malformations, using detailed clinical and cytogenetic information on 1,753 patients with nonmosaic single contiguous autosomal deletions. The 1,753 deletions involved 258 (89%) of 289 possible autosomal bands (by the use of ISCN 400-band nomenclature), giving a total of 4,190 deleted autosomal bands for analysis. We compared the band distributions of deletions associated with common major malformations with the distribution of all 1,753 deletions. We noted 283 positive associations between deleted bands and specific malformations, of which 199 were significant (P<.05, P>.001) and 84 were highly significant (P<.001). These "malformation-associated bands" (MABs) were distributed among 137 malformation-associated chromosome regions (MACRs). An average of 6 MABs in 2.9 MACRs were detected per malformation studied; 18 (6%) of 283 MABs contain a locus known to be associated with the particular malformation. A further 18 (6%) of 283 are in seven recognized specific malformation-associated aneuploid regions. Therefore, 36 (26%) of 137 of the MACRs contain an MAB coinciding with a previously recognized locus or malformation-associated aneuploid region. This map should facilitate identification of genes important in human development.
Brewer, C; Holloway, S; Zawalnyski, P; Schinzel, A; FitzPatrick, D
Thermoelectric generator assembly accommodating differential thermal expansion between thermoelectric elements by means of a cylindrical split follower forming a slot and having internal spring loaded wedges that permit the split follower to open and close across the slot.
Howell, deceased, Louis J. (late of Upper Merion Township, Montgomery County, PA)
... 9,11 Sports: 12% 1,2,9,11 Demographics Males account for 80% of spinal cord injury ... AB, Dijkers M, DeVivo MJ, Poczatek RB. A demographic profile of new traumatic spinal cord injuries: change ...
The question of whether anticyclones can split and break up is readdressed using a numerical, multilayer, primitive equation model. Applying the conservation of integrated angular momentum (IAM) to barotropic and baroclinic vortices, it has been argued that anticyclones can never split, no matter what their structure is. When an anticyclone splits, the IAM has to increase as the newly formed
S. S. Drijfhout
... your body and your brain. A spinal cord injury disrupts the signals. Spinal cord injuries usually begin with a blow that fractures or ... bone disks that make up your spine. Most injuries don't cut through your spinal cord. Instead, ...
Surgical management of a dermal lymphatic malformation of the lower extremity
Dermal lymphatic malformations are rare congenital hamartomas of superficial lymphatics characterized by high recurrence rates after excision. The standard therapy for a single lesion is surgical excision with wide margins, which reduces recurrence but can have a potentially unacceptable aesthetic outcome. A case of a 24-year-old woman with a 6 cm × 5 cm dermal lymphatic malformation on her right thigh, diagnosed by clinical history, physical examination, magnetic resonance imaging and pathological findings, is reported. The patient underwent wide local excision with split-thickness skin grafting. After pathological examination revealed negative margins, the patient underwent tissue expander placement and excision of the skin graft with primary closure. The lesion did not recur, and the patient achieved a satisfactory aesthetic result. The present case represents the first report of the use of tissue expanders to treat dermal lymphatic malformations in the lower extremity and demonstrates a safe, staged approach to successful treatment.
Schneider, Lisa F; Chen, Constance M; Zurada, Joanna M; Walther, Robert; Grant, Robert T
Malformed mdx myofibers have normal cytoskeletal architecture yet altered EC coupling and stress-induced Ca2+ signaling
Skeletal muscle function is dependent on its highly regular structure. In studies of dystrophic (dy/dy) mice, the proportion of malformed myofibers decreases after prolonged whole muscle stimulation, suggesting that the malformed myofibers are more prone to injury. The aim of this study was to assess morphology and to measure excitation-contraction (EC) coupling (Ca2+ transients) and susceptibility to osmotic stress (Ca2+ sparks) of enzymatically isolated muscle fibers of the extensor digitorum longus (EDL) and flexor digitorum brevis (FDB) muscles from young (2–3 mo) and old (8–9 mo) mdx and age-matched control mice (C57BL10). In young mdx EDL, 6% of the myofibers had visible malformations (i.e., interfiber splitting, branched ends, midfiber appendages). In contrast, 65% of myofibers in old mdx EDL contained visible malformations. In the mdx FDB, malformation occurred in only 5% of young myofibers and 11% of old myofibers. Age-matched control mice did not display the altered morphology of mdx muscles. The membrane-associated and cytoplasmic cytoskeletal structures appeared normal in the malformed mdx myofibers. In mdx FDBs with significantly branched ends, an assessment of global, electrically evoked Ca2+ signals (indo-1PE-AM) revealed an EC coupling deficit in myofibers with significant branching. Interestingly, peak amplitude of electrically evoked Ca2+ release in the branch of the bifurcated mdx myofiber was significantly decreased compared with the trunk of the same myofiber. No alteration in the basal myoplasmic Ca2+ concentration (i.e., indo ratio) was seen in malformed vs. normal mdx myofibers. Finally, osmotic stress induced the occurrence of Ca2+ sparks to a greater extent in the malformed portions of myofibers, which is consistent with deficits in EC coupling control. In summary, our data show that aging mdx myofibers develop morphological malformations. These malformations are not associated with gross disruptions in cytoskeletal or t-tubule structure; however, alterations in myofiber Ca2+ signaling are evident.
Ward, Christopher W.
Chiari malformation and sleep related breathing disorders
Objective To estimate the frequency, mechanisms and predictive factors of sleep apnoea syndrome (SAS) in a large group of children and adults with type I (CMI) and II (CMII) Chiari malformation (CM). Background The anatomical and functional integrity of both respiratory circuits and lower cranial nerves controlling the upper airway is necessary for breathing control during sleep. These latter structures may be altered in CM, and a few investigations have reported CM related sleep disordered breathing. Methods Forty?six consecutive unrelated patients with CM (40 CMI, six CMII), of which 20 were children (eight males) and 26 were adults (12 males), underwent physical, neurological and oto?rhino?laryngoscopic examination, MRI and polysomnography. Results SAS was present in 31 (67.4%) of the patients with CM (70% of CMI, 50% of CMII, including mainly children). Sixty per cent of children with CM exhibited SAS, including 35% with obstructive (OSAS) and 25% with central (CSAS) sleep apnoea syndrome. SAS was observed in 73% of CM adults (57.7% OSAS, 15.4% CSAS). Severe SAS was found in 23% of CM adults. Multiple regression analysis revealed that age, type II Chiari and vocal cord paralysis predicted the central apnoea index. Conclusion SAS is highly prevalent in all age groups of patients suffering from CM. CSAS, a rare condition in the general population, was common among the patients with CM in our study. Sleep disordered breathing associated with CM may explain the high frequency of respiratory failures observed during curative surgery of CM. Our results suggest that SAS should be systematically screened for in patients with CM, especially before surgery.
Dauvilliers, Y; Stal, V; Abril, B; Coubes, P; Bobin, S; Touchon, J; Escourrou, P; Parker, F; Bourgin, P
Drug-Induced (Thalidomide) Malformations
Phocomelia (flipper-like limbs) has long been recognized as a rare malformation. Numerous cases of phocomelia and other congenital malformations have recently been reported in the United Kingdom, Australia, Europe and Canada in which the common factor appears to have been the administration of the hypnotic compound thalidomide during early pregnancy. Two additional cases of infants born with phocomelia, amelia and alimentary abnormalities are presented. In both of these cases the administration of thalidomide was initiated early during pregnancy (five to eight weeks after the last normal menstrual period) and maintained for several weeks. Thalidomide (alpha-phthalimido glutarimide) is related chemically to other glutarimides currently in clinical use. The possibility that these compounds and/or their metabolites may induce teratogenic effects warrants consideration. Emphasis is added to the view that caution should be exercised when prescribing new drugs. ImagesFig. 1Fig. 2
Ing, George M.; Olman, C. L.; Oyd, John R.
Human tail with noncontiguous intraspinal lipoma and spinal cord tethering: case report and embryologic discussion.
Children born with a tail-like appendage have a rare malformation that is frequently associated with abnormalities of the spine and spinal cord. A contiguous fibrolipoma is usually seen extending from the subcutaneous portion of the tail into the inferior spinal cord, resulting in tethered cord syndrome. We present the case of a child born with a tail and intraspinal lipoma that were not contiguous with each other, and were separated by an intact layer of lumbosacral fascia. The tail and lipoma were removed and the spinal cord untethered, and the child is neurologically normal 2 years after surgery. The absence of a contiguous lipoma from the tail to the spinal cord suggests that this condition may be principally caused by a disorder of secondary neurulation and/or regression of the normal embryonic tail bud. The embryology of the lower spine is reviewed and possible etiologies discussed. PMID:15886511
Donovan, Daniel J; Pedersen, Robert C
Spinal cord stress injury assessment (SCOSIA): clinical applications of mechanical modeling of the spinal cord and brainstem
NASA Astrophysics Data System (ADS)
Abnormal stretch and strain is a major cause of injury to the spinal cord and brainstem. Such forces can develop from age-related degeneration, congenital malformations, occupational exposure, or trauma such as sporting accidents, whiplash and blast injury. While current imaging technologies provide excellent morphology and anatomy of the spinal cord, there is no validated diagnostic tool to assess mechanical stresses exerted upon the spinal cord and brainstem. Furthermore, there is no current means to correlate these stress patterns with known spinal cord injuries and other clinical metrics such as neurological impairment. We have therefore developed the spinal cord stress injury assessment (SCOSIA) system, which uses imaging and finite element analysis to predict stretch injury. This system was tested on a small cohort of neurosurgery patients. Initial results show that the calculated stress values decreased following surgery, and that this decrease was accompanied by a significant decrease in neurological symptoms. Regression analysis identified modest correlations between stress values and clinical metrics. The strongest correlations were seen with the Brainstem Disability Index (BDI) and the Karnofsky Performance Score (KPS), whereas the weakest correlations were seen with the American Spinal Injury Association (ASIA) scale. SCOSIA therefore shows encouraging initial results and may have wide applicability to trauma and degenerative disease involving the spinal cord and brainstem.
Wong, Kenneth H.; Choi, Jae; Wilson, William; Berry, Joel; Henderson, Fraser C., Sr.
Intrauterine Growth Retardation Associated with Uterine Malformations
Intrauterine growth retardation is caused by factors that prevent adequate fetal nourishment or by factors that intrinsically affect the fetus. Limited available space due to a congenitally malformed uterus may prevent normal intrauterine development. Two cases are presented here. A review of the available literature confirms the tendency of women with congenital uterine malformations to have smaller offspring. Intrauterine growth retardation should be added to the more commonly known complications associated with a congenitally malformed uterus. ImagesFigure 1Figure 2
Poma, Pedro A.
Noncardiac Malformations at Major Congenital Heart Defects
. Using the Swedish Cardiology Registry and the Registry of Congenital Malformations, and after excluding infants with a known\\u000a chromosomal anomaly, data on 397 infants (15%) born during the period 1981–1990 with a major cardiac defect and at least one\\u000a noncardiac malformation were analyzed. No clear-cut association appeared between specific heart defects and major groups of\\u000a noncardiac malformations except for
P. Pradat
Radiological Evaluation of Myelomeningocele — Chiari II Malformation
Myelomeningocele (MMC) is a malformation characterized by the failure of closure of the neural tube, usually (but not only)\\u000a at the lumbo-sacral level. Synonyms are spina bifida aperta, open spinal dysra — phism, and Chiari II malformation complex.\\u000a MMC is typically associated with a metamerically consistent paraplegia, a posterior fossa deformity known as the Chiari II\\u000a malformation, hydrocephalus, and a
Charles Raybaud; Elka Miller
Custom-tailored minimally invasive partial C2-corpectomy for ventrally located intramedullary cavernous malformation.
Approaches to ventrally located intramedullary lesions of the upper cervical spine can be extremely challenging. We present a custom-tailored, minimally invasive anterior approach to a ventrally located, intramedullary cavernous hemangioma with partial lateral corpectomy of C2, complete resection of the lesion and subsequent reconstruction. A 20-year-old woman presented with the history of progressive numbness of the left upper and lower extremities and some episodes of severe headaches was referred to magnetic resonance imaging: Here, an intramedullary lesion with typical radiological features for a cavernous malformation at the ventral surface of the spinal cord at the C2 level was detected. The surgical procedure was performed under general anesthesia and electrophysiological monitoring (somatosensory-evoked potentials (SEP), muscle motor-evoked potentials (MEP), and D-wave recording). Complete resection of the cavernous malformation was achieved and reconstruction of the cervical spine was performed using a custom-tailored cage. Intraoperative neuromonitoring during resection, revealed a transient MEP loss, but unchanged D-wave and SEP recordings indicated unchanged neurological outcome. Early clinical follow-up of the patient revealed no new neurological deficits. At 3-month follow-up, there was some improvement of the sensory function. This custom-tailored minimally invasive anterior approach to a ventrally located intramedullary cavernous malformation with partial C2-corpectomy describes a possible and successful approach to ventrally located intramedullary lesions of the upper cervical spinal cord. Additionally, the hereby-described approach is not related to cervical instability. PMID:23568696
Eicker, Sven O; Eicker, Sve O; Szelényi, Andrea; Mathys, Christian; Steiger, Hans-Jakob; Hänggi, Daniel
Diffuse malformations of cortical development.
Malformations of cortical development (MCD) represent a major cause of developmental disabilities and severe epilepsy. Advances in imaging and genetics have improved the diagnosis and classification of these conditions. Up to now, eight genes have been involved in different types of MCD. Lissencephaly-pachygyria and subcortical band heterotopia (SBH) represent a malformative spectrum resulting from mutations of either LIS1 or DCX genes. LIS1 mutations cause a more severe malformation in the posterior brain regions. DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. Additional forms are X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia associated with mutations of the ARX gene. Lissencephaly with cerebellar hypoplasia (LCH) encompass heterogeneous disorders named LCH types a to d. LCHa is related to mutation in LIS1 or DCX, LCHb with mutation of the RELN gene, and LCHd could be related to the TUBA1A gene. Polymicrogyria encompasses a wide range of clinical, etiological, and histological findings. Among several syndromes, recessive bilateral fronto-parietal polymicrogyria has been associated with mutations of the GPR56 gene. Bilateral perisylvian polymicrogyria has been associated with mutations in the SRPX2 gene in a few individuals and with linkage to chromosome Xq28 in a some other families. X-linked bilateral periventricular nodular heterotopia (PNH) consists of PNH with focal epilepsy in females and prenatal lethality in males. Filamin A (FLNA) mutations have been reported in some families and in sporadic patients. It is possible to infer the most likely causative gene by brain imaging studies and other clinical findings. PMID:23622213
Bahi-Buisson, Nadia; Guerrini, Renzo
Orbital arteriovenous malformation mimicking cavernous sinus dural arteriovenous malformation
AIMS—Orbital arteriovenous malformations (OAVM) are rare, mostly described with high flow characteristics. Two cases are reported with an OAVM of distinct haemodynamic abnormality. The clinical, angiographic features, and the management considerations are discussed.?METHODS—Case review of two patients with dural AVM (DAVM) who presented to referral neuro-ophthalmology and endovascular services because of clinical symptoms and signs consistent with a cavernous sinus dural AVM.?RESULTS—In each patient, superselective angiography revealed a small slow flow intraorbital shunt supplied by the ophthalmic artery. The transarterial and transvenous endovascular approaches to treat the malformation were partially successful. Although, the abnormal flow was reduced, complete closure of the DAVM could not be accomplished without significant risk of iatrogenic injury. Neither patient's vision improved after intervention.?CONCLUSION—A DAVM in the orbit can cause similar clinical symptoms and signs to those associated with a cavernous sinus DAVM. Even with high resolution magnetic resonance imaging, only superselective angiography can identify this small intraorbital slow flow shunt. The location in the orbital apex and the small size precludes a surgical option for treatment. The transarterial and transvenous embolisation options are limited.??
Huna-Baron, R.; Setton, A.; Kupersmith, M.; Berenstein, A.
Multiple Arteriovenous Malformations with Hemorrhage
Summary \\u000a ?Background. A rare case of a left temporal arteriovenous malformation (AVM) with bleeding 10 days after removal of another hemorrhagic\\u000a AVM in the frontal lobe is reported.\\u000a \\u000a \\u000a \\u000a ?Method. A 47-year-old man had an attack of headache and vomiting and was admitted to our hospital. On admission, a CT scan showed\\u000a subcortical hemorrhage in the left frontal lobe. Left carotid
S. Utsuki; A. Kurata; Y. Miyasaka; M. Takano; H. Ootaka; K. Fujii
Pulmonary varix mimicking arteriovenous malformation.
We report here a case of a 44-year-old female with a pulmonary varix. The patient was asymptomatic; a routine chest X-ray incidentally revealed a serpiginous mass in the left hilar region. Computed tomography revealed a serpiginous, dilated vascular structure in the left upper lobe that continued into the lower lobe and was suggestive of an arteriovenous malformation. Pulmonary angiography revealed no arterial abnormality; however, the filling of an abnormally dilated pulmonary vein was observed. Angiography is considered to be the most useful method for the confirmatory diagnosis of pulmonary varices. PMID:18164399
Kumazoe, Hiroyuki; Komori, Masashi; Ochiai, Reiji; Egashira, Ryoko; Nakazono, Takahiko; Kudo, Sho
Management of Pulmonary Arteriovenous Malformations
Pulmonary arteriovenous malformations are rare lesions with significant clinical complications. These lesions are commonly seen in patients with hereditary hemorrhagic telangiectasia (formerly Osler-Weber-Rendu syndrome). Interventional radiologists are a key part of the treatment team in this complex disease, and a thorough understanding of the disease process is critical to providing good patient care. In this article, the authors review the disease course and its association with hereditary hemorrhagic telangiectasia, discusses the clinical evaluation and treatment of these complex patients, and outlines complications and follow-up.
Meek, Mary E.; Meek, James C.; Beheshti, Michael V.
Congenital bronchopulmonary foregut malformations: concepts and controversies
This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions
Beverley Newman
A Framework for Detecting Malformed SMS Attack
Malformed messages in different protocols pose a serious threat because they are used to remotely launch malicious activity. Furthermore, they are capable of crashing servers and end points, sometimes with a single message. Recently, it was shown that a malformed SMS can crash a mobile phone or gain unfettered access to it. In spite of this, little research has been
M Zubair Rafique; Muhammad Khurram Khan; Khaled Alghathbar; Muddassar Farooq
Renal tract malformations: perspectives for nephrologists
Renal tract malformations are congenital anomalies of the kidneys and\\/or lower urinary tract. One challenging feature of these conditions is that they can present not only prenatally but also in childhood or adulthood. The most severe types of malformations, such as bilateral renal agenesis or dysplasia, although rare, lead to renal failure. With advances in dialysis and transplantation for young
Larissa Kerecuk; Michiel F Schreuder; Adrian S Woolf
NSDL National Science Digital Library
In this optics activity, learners split white light into all its component colors using three household items: a compact disc, dishwashing liquid, and a hose (outside). In each experiment, learners split light through a different color separation process, including dispersion, interference and diffraction. This resource includes an explanation of each process as well as links to three articles about color and light.
America, Optical S.
Visual fixation in Chiari type II malformation.
Chiari type II malformation is a congenital deformity of the hindbrain. Square wave jerks are horizontal involuntary saccades that interrupt fixation. Cerebellar disorders may be associated with frequent square wave jerks or saccadic oscillations such as ocular flutter. The effects of Chiari type II malformation on visual fixation are unknown. We recorded eye movements using an eye tracker in 21 participants with Chiari type II malformation, aged 8 to 19 years while they fixated a target for 1 minute. Thirty-eight age-matched healthy participants served as controls. Square wave jerks' parameters were similar in the 2 groups. Saccadic oscillations were not seen. Chiari type II malformation is not associated with pathological square wave jerks or abnormal saccadic oscillations. The congenital nature of this deformity may permit compensation that preserves stable visual fixation. Alternatively, the deformity of Chiari type II malformation may spare parts of the cerebellum that usually cause fixation instability when damaged. PMID:19182152
Salman, Michael S; Sharpe, James A; Lillakas, Linda; Dennis, Maureen; Steinbach, Martin J
Acute spinal cord injuries may arise due to blunt injuries or to penetrating trauma, such as stab or gunshot injuries. The severity of injury varies both in terms of neurological segmental level, and the sensorimotor pattern of neurological deficit (ASIA category). The initial ATLS assessment of all trauma patients includes a thorough neurological examination to identify acute spinal cord injury.
Pradeep Thumbikat; Nazakat Hussain; Martin R. McClelland
Arnold-Chiari malformation type 1 complicated by sudden onset anterior spinal artery thrombosis, tetraparesis and respiratory arrest
Chiari in 1891 described a constellation of anomalies at the base of the brain inherited congenitally, the characteristic of which are (1) extension of a tongue of cerebellar tissue posterior to the medulla and cord that extends into the cervical spinal canal; (2) caudal displacement of the medulla and the inferior part of the fourth ventricle into the cervical canal; and (3) a frequent but not invariable association with syringomyelia or a spinal developmental abnormality. Chiari recognized four types of abnormalities. Presently, the term has come to be restricted to Chiari's types I and II, that is, to cerebellomedullary descent without and with a meningomyelocele, respectively. The association of Arnold–Chairi malformation and high cervical cord infarction is unusual. The most common syndrome, anterior spinal artery syndrome (ASAS), is caused by interruption of blood flow to the anterior spinal artery, producing ischaemia in the anterior two-thirds of the cord, with resulting neurologic deficits. Causes of ASAS include aortic disease, postsurgical, sepsis, hypotension and thromboembolic disorders. The authors present an interesting case of cervical cord infarction due to anterior spinal artery thrombosis in a patient of type 1 Arnold–Chiari malformation without any of the above predisposing factors.
Wani, Abdul Majid; Zayyani, Najah R; Al Miamini, Wail; Khoujah, Amer M; Alharbi, Zeyad; Diari, Mohd S
NASA Technical Reports Server (NTRS)
Tool accurately splits glass tubing so cuts are aligned 180 deg apart and reassembled tube forms low pressure, gastight enclosure. Device should interest industries using cylindrical closed glass containers.
Klein, J. A.; Murray, C. D.; Stein, J. A.
A gene map of congenital malformations.
Congenital malformations frequently arise sporadically, making it difficult to determine whether or not they are genetic in aetiology, let alone which gene(s) may be involved. Nevertheless, rapid progress has been made over recent years in the localisation and identification of gene mutations in specific malformations. This review draws from Mendelian inheritance in man (Johns Hopkins University Press, 11th ed, 1994) and the online version (OMIM) to catalogue 139 loci (including 65 specifically identified genes) implicated in congenital malformations. Some of the most interesting recent developments are discussed.
Wilkie, A O; Amberger, J S; McKusick, V A
Modeling spinal cord biomechanics
NASA Astrophysics Data System (ADS)
Regeneration after spinal cord injury is a serious health issue and there is no treatment for ailing patients. To understand regeneration of the spinal cord we used a system where regeneration occurs naturally, such as the lamprey. In this work, we analyzed the stress response of the spinal cord to tensile loading and obtained the mechanical properties of the cord both in vitro and in vivo. Physiological measurements showed that the spinal cord is pre-stressed to a strain of 10%, and during sinusoidal swimming, there is a local strain of 5% concentrated evenly at the mid-body and caudal sections. We found that the mechanical properties are homogeneous along the body and independent of the meninges. The mechanical behavior of the spinal cord can be characterized by a non-linear viscoelastic model, described by a modulus of 20 KPa for strains up to 15% and a modulus of 0.5 MPa for strains above 15%, in agreement with experimental data. However, this model does not offer a full understanding of the behavior of the spinal cord fibers. Using polymer physics we developed a model that relates the stress response as a function of the number of fibers.
Luna, Carlos; Shah, Sameer; Cohen, Avis; Aranda-Espinoza, Helim
Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management.
Capillary malformation-arteriovenous malformation syndrome is an autosomal dominant disorder caused by mutations in the RASA1 gene and characterized by multiple small, round to oval capillary malformations with or without arteriovenous malformations. Ateriovenous malformations occur in up to one-third of patients and may involve the brain and spine. Although making the diagnosis is straightforward in some patients, there are other patients for whom diagnostic criteria may be helpful in their evaluation. Here we review the literature regarding capillary malformation-arteriovenous malformation syndrome, propose diagnostic criteria, and discuss the care of patients with this condition. PMID:23662773
Orme, Charisse M; Boyden, Lynn M; Choate, Keith A; Antaya, Richard J; King, Brett A
Multiple supernumerary teeth associated with bony malformations.
Full blown cases of cleidocranial dysplasia (CCD) have been reported earlier but a case with a rarity of 60 teeth associated with bony malformations, is seldom observed Because of the oral findings this condition has been diagnosed at an early age, thus helping to achieve a better oral harmony. This article reports an atypical case with 16 supernumerary teeth associated with bony malformations. PMID:22524086
Kamatham, R; Sharada, J; Mohapatra, A; Nuvvula, S
Early presentation of an extremity arteriovenous malformation.
We report a very rare case of a high flow arteriovenous malformation (AVM) of the upper limb that caused high output cardiac failure at birth. There was early transfer of the baby to the care of a multidisciplinary team. After radiological intervention, the arm distal to the malformation became ischaemic and an urgent amputation through the upper-humerus followed. Methods of treatment are discussed, together with a review of results in the literature. PMID:15544778
Webb, Jill B; O'Brien, Mary; John, Philip R; Nishikawa, Hiroshi
Chiari malformation with thick occipital bone.
A case of a Chiari malformation with an extraordinarily thick occipital bone is described. The thick occipital bone might make the posterior fossa narrow with consequent herniation of the cerebellar tonsils to the foramen magnum and formation of a syrinx. At dural plasty, well-developed marginal and occipital sinuses should be deliberately handled with the preservation of normal venous drainage. This case gives us the essence of the occurrence mechanisms of Chiari malformation and foramen magnum decompression. PMID:21339798
Yasuhara, Takao; Miyoshi, Yasuyuki; Date, Isao
Risk factors in internal urinary system malformations
Risk factors were studied in 370 children with internal urinary system (IUS) anomalies, coming from 105,374 consecutive births of known outcome. The incidence of IUS malformations was 3.51 per 1,000 births. Diagnosis was performed prenatally in 54.4% of patients. Two hundred and fifty-two patients had isolated IUS anomalies; 118 (31.8%) of the children had at least one non-urinary malformation. Fifty-five
C. Stoll; Y. Alembik; M. P. Roth; B. Dott; P. Sauvage
The Microcephaly-Capillary Malformation Syndrome
We report on three children from two families with a new pattern recognition malformation syndrome consisting of severe congenital microcephaly (MIC), intractable epilepsy including infantile spasms, and generalized capillary malformations that was first reported recently in this journal [Carter et al. (2011); Am J Med Genet A 155: 301–306]. Two of our reported patients are an affected brother and sister, suggesting this is an autosomal recessive severe congenital MIC syndrome.
Mirzaa, Ghayda M.; Paciorkowski, Alex R.; Smyser, Christopher D.; Willing, Marcia C.; Lind, Anne C.; Dobyns, William B.
Congenital pseudoarthrosis associated with venous malformation.
Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. PMID:16967289
Al-Hadidy, A; Haroun, A; Al-Ryalat, N; Hamamy, H; Al-Hadidi, S
Pineal Cavernous Malformations: Report of Two Cases
Pineal hemorrhage only occurs in rare cases, and this known to have several different causes such as germ cell tumors, pineal cysts and vascular malformations, including the cavernous malformations. Pineal cavernous malformations are extremely rare: to date only fifteen cases have been reported worldwide. Although the diagnosis of pineal cavernous malformation is not easy because of the extreme rareness of this condition, the presence of this lesion can be suspected based on its typical radiological findings. Case 1. A 42-year- old man presented with a limitation in his upward gazing. Radiologic examinations showed acute hemorrhage in the pineal region. He underwent ventriculo-peritoneal (VP) shunting but the patient's condition deteriorated after the shunting surgery. We operated and totally removed the tumor and the hemorrhages via an occipital-transtentorial approach. Case 2. A 37-year-old man presented with diplopia. Radiologic examinations showed acute hemorrhage in the third ventricle. He underwent VP shunting, and after this procedure the diplopia was aggravated. We operated and totally removed the tumor and the hemorrhages via an occipital-transtentorial approach. If there is no doubt about the pineal cavernous malformation on MR imaging, we strongly recommend early surgical intervention without performing a risky biopsy. In this study, we describe our experiences for the diagnosis of cavernous malformations in the pineal region with special emphasis on the radiological aspects and the clinical course of this disease.
Kim, Dong-Seok; Shim, Kyu-Won; Kim, Tae-Gon; Chang, Jong-Hee; Park, Yong-Gou
Pineal cavernous malformations: report of two cases.
Pineal hemorrhage only occurs in rare cases, and this known to have several different causes such as germ cell tumors, pineal cysts and vascular malformations, including the cavernous malformations. Pineal cavernous malformations are extremely rare: to date only fifteen cases have been reported worldwide. Although the diagnosis of pineal cavernous malformation is not easy because of the extreme rareness of this condition, the presence of this lesion can be suspected based on its typical radiological findings. Case 1. A 42-year- old man presented with a limitation in his upward gazing. Radiologic examinations showed acute hemorrhage in the pineal region. He underwent ventriculo-peritoneal (VP) shunting but the patient's condition deteriorated after the shunting surgery. We operated and totally removed the tumor and the hemorrhages via an occipital-transtentorial approach. Case 2. A 37-year-old man presented with diplopia. Radiologic examinations showed acute hemorrhage in the third ventricle. He underwent VP shunting, and after this procedure the diplopia was aggravated. We operated and totally removed the tumor and the hemorrhages via an occipital-transtentorial approach. If there is no doubt about the pineal cavernous malformation on MR imaging, we strongly recommend early surgical intervention without performing a risky biopsy. In this study, we describe our experiences for the diagnosis of cavernous malformations in the pineal region with special emphasis on the radiological aspects and the clinical course of this disease. PMID:16385664
Kim, Dong-Seok; Shim, Kyu-Won; Kim, Tae-Gon; Chang, Jong-Hee; Park, Yong-Gou; Choi, Joong-Uhn
Venous Malformation: update on etiopathogenesis, diagnosis & management
The aim of this review was to discuss the current knowledge on etiopathogenesis, diagnosis and therapeutic management of venous malformations. Venous malformations (VMs) are slow-flow vascular anomalies. They are simple, sporadic or familial (cutaneo-mucosal venous malformation or glomuvenous malformations), combined (e.g. capillaro-venous, capillaro-lymphaticovenous malformations) or syndromic (Klippel-Trenaunay, Blue Rubber Bleb Naevus and Maffucci). Genetic studies have identified causes of familial forms and of 40% of sporadic VMs. Another diagnostic advancement is the identification of elevated D-dimer level as the first biomarker of venous malformations within vascular anomalies. Those associated with pain are often responsive to Low Molecular Weight Heparin which should also be used to avoid disseminated intravascular coagulopathy secondary to intervention, especially if fibrinogen level is low. Finally, development of a modified sclerosing agent, ethylcellulose–ethanol, has improved therapy. It is efficient and safe, and widens indications for sclerotherapy to sensitive and dangerous areas such as hands, feet and periocular area.
Dompmartin, Anne; Vikkula, Miikka; Boon, Laurence M
Coordination in Split Award Auctions
The authors analyze split award procurement auctions in which a buyer divides full production between two suppliers or awards all production to a single supplier, and suppliers have private cost information. An intriguing feature of split awards is that the equilibrium bids are implicitly coordinated. Because a split award price is the sum of offered split prices, each supplier can
James J Anton; Dennis A Yao
American Academy of Pediatrics Section on Hematology/Oncology, American Academy of Pediatrics Section on Allergy/Immunology, Lubin BH, Shearer WT. Cord blood banking for potential future transplantation. ...
MedlinePLUS Videos and Cool Tools
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... during fetal development, and is closely linked to spina bifida. Tethered spinal cord syndrome may go undiagnosed until ... 800-999-NORD (6673) Fax: 203-798-2291 Spina Bifida Association 4590 MacArthur Blvd. NW Suite 250 Washington, ...
Dorsal midline proboscis associated with diastematomyelia and tethered cord syndrome. Case report.
There have been sporadic reports on tail proboscis, a vestigial appendage, as part of sacrococcygeal dysraphism. The case the authors present, different from the tail proboscis, is the first report linking a proboscis containing a hemilipomyelomeningocele with tethered cord syndrome, associated with diastematomyelia. Tethering was caused by the diastematomyelia that anchored the split spinal cord. The authors emphasize the importance of prompt diagnostic and therapeutic measures for treatment of this condition. PMID:8814181
Yamada, S; Mandybur, G T; Thompson, J R
NASA Technical Reports Server (NTRS)
A split spline screw type payload fastener assembly, including three identical male and female type split spline sections, is discussed. The male spline sections are formed on the head of a male type spline driver. Each of the split male type spline sections has an outwardly projecting load baring segment including a convex upper surface which is adapted to engage a complementary concave surface of a female spline receptor in the form of a hollow bolt head. Additionally, the male spline section also includes a horizontal spline releasing segment and a spline tightening segment below each load bearing segment. The spline tightening segment consists of a vertical web of constant thickness. The web has at least one flat vertical wall surface which is designed to contact a generally flat vertically extending wall surface tab of the bolt head. Mutual interlocking and unlocking of the male and female splines results upon clockwise and counter clockwise turning of the driver element.
Vranish, John M. (inventor)
NASA Astrophysics Data System (ADS)
We suggest a way to characterize the coherence of the split Cooper pairs emitted by a double-quantum-dot based Cooper pair splitter (CPS), by studying the radiative response of such a CPS inside a microwave cavity. The coherence of the split pairs manifests in a strongly nonmonotonic variation of the emitted radiation as a function of the parameters controlling the coupling of the CPS to the cavity. The idea to probe the coherence of the electronic states using the tools of cavity quantum electrodynamics could be generalized to many other nanoscale circuits.
Cottet, Audrey; Kontos, Takis; Yeyati, Alfredo Levy
Umbilical cord avulsion in waterbirth.
Umbilical cord avulsion (or "cord snapping") is often cited as a risk associated with waterbirth. This article discusses a case study in which a cord avulsed during a waterbirth and uses it as a basis to explore the incidence, etiology, and associated risk factors of umbilical cord avulsion. The diagnosis, clinical presentation, and management of cord avulsion in waterbirth is presented along with a thorough review of the literature and relevant professional standards. This article offers recommendations for clinical practice to minimize the risk of a cord avulsion and highlights the need for additional research and provider education to ensure optimal care of women and newborns. PMID:24588881
Schafer, Robyn
Mechanisms of cerebellar tonsil herniation in patients with Chiari malformations as guide to clinical management
Background The pathogenesis of Chiari malformations is incompletely understood. We tested the hypothesis that different etiologies have different mechanisms of cerebellar tonsil herniation (CTH), as revealed by posterior cranial fossa (PCF) morphology. Methods In 741 patients with Chiari malformation type I (CM-I) and 11 patients with Chiari malformation type II (CM-II), the size of the occipital enchondrium and volume of the PCF (PCFV) were measured on reconstructed 2D-CT and MR images of the skull. Measurements were compared with those in 80 age- and sex-matched healthy control individuals, and the results were correlated with clinical findings. Results Significant reductions of PCF size and volume were present in 388 patients with classical CM-I, 11 patients with CM-II, and five patients with CM-I and craniosynostosis. Occipital bone size and PCFV were normal in 225 patients with CM-I and occipitoatlantoaxial joint instability, 55 patients with CM-I and tethered cord syndrome (TCS), 30 patients with CM-I and intracranial mass lesions, and 28 patients with CM-I and lumboperitoneal shunts. Ten patients had miscellaneous etiologies. The size and area of the foramen magnum were significantly smaller in patients with classical CM-I and CM-I occurring with craniosynostosis and significantly larger in patients with CM-II and CM-I occurring with TCS. Conclusions Important clues concerning the pathogenesis of CTH were provided by morphometric measurements of the PCF. When these assessments were correlated with etiological factors, the following causal mechanisms were suggested: (1) cranial constriction; (2) cranial settling; (3) spinal cord tethering; (4) intracranial hypertension; and (5) intraspinal hypotension.
Nishikawa, Misao; Kula, Roger W.; Dlugacz, Yosef D.
Split Injection Gas Chromatography
NSDL National Science Digital Library
This animation site deals specifically with split injection in gas chromatography. The animations are short (one to two minutes each) and can easily be shown in class as part of a lecture. They are extremely helpful in illustrating key components and concepts of chromatographic systems. Users are encouraged to explore the site and the other brief animations as well.
ERIC Educational Resources Information Center
Teaching experiments have generated several hypotheses concerning the construction of fraction schemes and operations and relationships among them. In particular, researchers have hypothesized that children's construction of splitting operations is crucial to their construction of more advanced fractions concepts (Steffe, 2002). The authors…
Wilkins, Jesse L. M.; Norton, Anderson
Diagnosis of Schmallenberg virus infection in malformed lambs and calves and first indications for virus clearance in the fetus.
Since mid-December 2011, samples from malformed lambs and calves are sent to CODA-CERVA in Belgium for diagnosis of Schmallenberg virus (SBV), a novel Orthobunyavirus that was first detected by researchers of the Friedrich-Loeffler-Institut (FLI, Germany) in German cattle in autumn 2011 and was later shown to be involved in congenital malformations in lambs, goat kids and calves. Surprisingly, by making use of real time RT-PCR (rRT-PCR) assays developed by the FLI, presence of SBV RNA could only be confirmed in part of the SBV suspected newborns examined. To investigate possible causes for non-confirmation by rRT-PCR, a comparative analysis between different organs and tissues (cerebrum, cerebellum, brain stem, spinal cord, thymus, spleen, lymph nodes, meconium) originating from respectively 90 and 81 malformed lambs and calves was undertaken. Furthermore, thoracic fluids of respectively 55 malformed lambs and calves were examined by a virus neutralization test (VNT) to evaluate the presence of neutralizing anti-SBV antibodies in these animals. Our results show that among the different organs tested by rRT-PCR, brain stem material is the most appropriate tissue for SBV detection while it could also be detected in all other tissues but to a more variable degree. The VNT test showed that 95% of the malformed lambs were positive for anti-SBV neutralizing antibodies while this was only the case for 44% of malformed calves. These immunological data suggest that a humoral immune response could assist in the clearance of SBV from the fetus during gestation and that SBV specific antibody testing should be considered together with rRT-PCR analysis for confirmation of SBV infection. PMID:23265245
De Regge, Nick; van den Berg, Thierry; Georges, Laura; Cay, Brigitte
Split Bregman Algorithm, Douglas-Rachford Splitting and Frame Shrinkage
We examine relations between popular variational methods in image processing and classical operator splitting methods in convex\\u000a analysis. We focus on a gradient descent reprojection algorithm for image denoising and the recently proposed Split Bregman\\u000a and alternating Split Bregman methods. By identifying the latter with the so-called Douglas-Rachford splitting algorithm we\\u000a can guarantee its convergence. We show that for a
Simon Setzer
Debendox in early pregnancy and fetal malformation.
During the mid-1960s, 22 977 pregnant women in Scotland and England were followed up prospectively for the incidence of malformations in their infants evident at birth or within six weeks. During the first 13 weeks of gestation 620 of these women had been prescribed Debendox (dicyclomine-doxylamine-pyridoxine) and 743 other women agents other than Debendox containing pyridoxine. Of the 620 women given Debendox, 589 (95%) had a normal outcome of pregnancy, 8 (13%) delivered a malformed infant, and 23 (3.7%) had other outcomes. Of the 22 357 women who were given Debendox, 445 (2.0%) produced infants with malformation; and the rates for all abnormal outcomes among women given Debendox and those not given the drug were 5.0% and 5.4% respectively. These results support the hypothesis that Debendox is not teratogenic.
Fleming, D M; Knox, J D; Crombie, D L
Cerebral arteriovenous malformations in children.
In spite of their congenital origin, only 18-20% of cerebral AVMs are diagnosed during infancy and childhood. Intracranial haemorrhage is the presenting clinical manifestation in 75-80% of paediatric patients and is associated with a high morbidity and mortality. The natural history of untreated cerebral AVMs in children is worse than in adults, in relation to a longer life expectation, a higher annual risk of AVM bleeding (3.2% vs. 2.2%) and a higher incidence of posterior fossa and basal ganglia AVMs, most of which present with massive haemorrhages. The surgical excision remains the treatment of choice for parenchymal AVMs in children; AVM complete removal is currently achieved in 70-90% of the patients. With the advent of new agents for endovascular management, preoperative AVM embolization has further improved surgical results. Stereotactic radiosurgery appears to be a successful treatment option in small or moderate sized AVMs. Recent studies have demonstrated low complication rates with this technique in paediatric patients. We reviewed our experience with 37 paediatric AVMs treated at the Section of Paediatric Neurosurgery of the Catholic University of Rome between 1980 and 1997. Twenty-three patients underwent surgery as the only treatment modality; endovascular embolization was combined with the surgical treatment in a further four cases. Radiosurgery was utilized as the only treatment in three patients and in combination with other techniques in an other three children (with surgery in one case and with AVM embolization in the remaining two subjects). No treatment was carried out in three patients because of excessively critical condition on admission; endovascular embolization failed in a further patient because of the anatomical complexity of the malformation. Previous studies have demonstrated a quite strict correlation between AVM complexity based on Spetzler and Martin's grading system and patients outcome. A less direct relationship has been observed in the present study. In our experience the factors which were more closely predictive of patients' outcome were the occurrence of an AVM bleeding and the neurological status on admission. In spite of the low number of cases in the single subsets of patients this study seems to support the role of AVM embolization and radiosurgery as effective adjuvant techniques in the management of cerebral AVMs in children. PMID:10795888
Di Rocco, C; Tamburrini, G; Rollo, M
A rare case of Chiari type-1 malformation accompanied by symptomatic cerebrospinal fluid hypovolemia: comparison of congenital Chiari type-1 malformation and acquired Chiari malformation secondary to cerebrospinal fluid hypovolemia: case report.
A 23-year-old woman was injured in a rear-end collision. She had general malaise and posterior neck pain, which were more severe when she was in an upright position. Magnetic resonance imaging (MRI) revealed the presence of cerebellar tonsil descensus and syringomyelia in the spinal cord. Radioisotope (RI) cisternography showed signs of an early accumulation of RI in the bladder, and a delayed accumulation of RI in the cerebral fornix. We considered the possibilities of cerebrospinal fluid (CSF) hypovolemia and congenital Chiari type-1 malformation as being responsible for her headache. To obtain a definitive diagnosis, we performed gadolinium (Gd)-enhanced MR cisternography and found evidence of CSF leakage. We performed an epidural blood patch (EBP), and her symptoms resolved. In 2 years since the episode, her symptoms have not recurred, and additional treatment has not been required. In addition, MRI performed 2 years after the EBP did not reveal any changes. There seems no previous report which described successful differentiation of pre-existing congenital Chiari type-1 malformation from the acquired one caused by symptomatic CSF hypovolemia. Because treatment protocols differ between these two conditions, the establishment of a correct diagnosis is important. PMID:24477061
Hatae, Ryusuke; Kohri, Ryusuke; Maeda, Kazushi; Miyazono, Masayuki
Percutaneous Cryotherapy of Vascular Malformation: Initial Experience
The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.
Cornelis, F., E-mail: firstname.lastname@example.com [Institut Bergonie, Department of Radiology (France); Neuville, A. [Institut Bergonie, Department of Pathology (France); Labreze, C. [Pellegrin Hospital, Department of Pediatric Dermatology (France); Kind, M. [Institut Bergonie, Department of Radiology (France); Bui, B. [Institut Bergonie, Department of Oncology (France); Midy, D. [Pellegrin Hospital, Department of Vascular Surgery (France); Palussiere, J. [Institut Bergonie, Department of Radiology (France); Grenier, N. [Pellegrin Hospital, Department of Radiology (France)
Gastrointestinal perforations in neonates with anorectal malformations.
We describe the presentation and management of gastrointestinal perforation in four neonates with anorectal malformations. Two neonates with high malformation had pneumoperitoneum on X-ray; surgery revealed sigmoid perforation in one patient and transverse colon perforation in the other. Colostomy was done, followed by posterior sagittal anorectoplasty at four months; both recovered satisfactorily. The third neonate had no radiological feature of gut perforation but cecal perforation was found at surgery; the neonate recovered following right hemicolectomy with stoma followed by anorectoplasty at five months. The fourth neonate presented with clinical and radiological features of perforation and recovered satisfactorily after anoplasty and colostomy. PMID:15250569
Sharma, Shyam B; Gupta, Vipul; Sharma, Vinod
Genetics Home Reference: Microcephaly-capillary malformation syndrome
... help with understanding microcephaly-capillary malformation syndrome? angiogenesis ; apoptosis ; autophagy ; autosomal ; autosomal recessive ; capillaries ; cell ; degrade ; developmental delay ; ...
Anaesthetic management of a child with massive extracranial arteriovenous malformation
Vascular tumors affect the head and neck commonly but arteriovenous malformations are rare. Vascular malformations are often present at birth and grow with the patient, usually only becoming significant later in childhood. Embolization has been the mainstay of treatment in massive and complex arteriovenous malformations. We present a case of massive extracranial arteriovenous malformation in a 7-year-old boy causing significant workload on right heart and respiratory distress. The management of angioembolization under general anaesthesia and anaesthetic concerns are presented.
Shamim, Faisal; Ullah, Hameed; Rehman, Azhar
Genetics Home Reference: Multiple cutaneous and mucosal venous malformations
... help with understanding VMCM? angiogenesis ; autosomal ; autosomal dominant ; calcium ; cell ; cutaneous ; deficiency ; endothelial cells ; gene ; inflammation ; inherited ; kinase ; lesion ; malformation ; ...
Split Awards, Procurement, and Innovation
In many procurement settings, it is possible for a buyer to split a production award between suppliers. In this article, we develop a model of split-award procurement auctions in which the split choice is endogenous. We characterize the set of equilibrium bids and allocations for optimizing agents in an environment in which suppliers are fully informed about each other's costs.
James J. Anton; Dennis A. Yao
Associated malformations in patients with limb reduction deficiencies
Infants with limb reduction deficiencies (LRD) often have other associated congenital malformations. The purpose of this investigation was to assess the prevalence and the types of associated malformations in a defined population. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for malformations was continued until 1 year
Claude Stoll; Yves Alembik; Beatrice Dott; Marie-Paule Roth
Congenital malformations by the parental occupation in finland
The Finnish Register of Congenital Malformations, a case-referent register, was used to analyze the associations between the parental occupation and the children born with malformations. The women working in industrial and construction occupations had more children with central nervous system (CNS) and musculoskeletal malformations than the referent mothers. The women employed in transport and communication occupations had more children with
K. Hemminki; P. Mutanen; K. Luoma; I. Saloniemi
Hydromyelia and Chiari malformation in children and adolescents
A series of 24 patients with Chiari malformation and hydromyelia, treated at the Prince of Wales Children's Hospital between 1975 and 1991, is reviewed. The age range of these patients was 3 to 19 years. Eleven had a Chiari 1 malformation and 13 had a Chiari 2 malformation. The follow-up period ranged from 6 months to 16 years with a
R. F. C Jones; J. G. J Ayer; W. A Stening
Spinal epidural angiomatous malformations draining into intrathecal veins
Nine angiomatous malformations situated on the outer surface of the dura and one situated in the pelvis, from which draining veins pierced the dura and joined the coronal venous plexus are described. The clinical manifestations and myelographic appearances are similar to those of the majority of intradural angiomatous malformations. This suggests that neurological deficiencies with both types of malformation are
B. E. Kendall; V. Logue
Spinal compression due to atlantal vertebral malformation in two African lions (Panthera leo).
Two young (14-mo-old and 6-mo-old), unrelated, male African lions (Panthera leo) were presented to the Veterinary Teaching Hospitals of Oklahoma State University and Kansas State University with progressive ambulatory difficulty. In both cases, limited neurologic evaluation demonstrated pelvic limb paresis and ataxia with conscious proprioceptive deficits. Spinal imaging showed nearly identical lesions in both cases. Radiography and myelography demonstrated cervical stenosis secondary to atlantal (C1) malformation producing a dorsoventral deformity of the laminar arch with atlantoaxial spinal cord compression between the ventrally displaced laminar arch of the atlas and the underlying odontoid process of C2. Computed tomography of the atlanto-axial junction confirmed cervical stenosis and cord compression, showing flattening of the spinal cord between the laminar arch of C1 and the dens of C2. Decompressive surgery consisting of dorsal laminectomy of C1 was performed. Each lion demonstrated progressive improvement of neurologic status to recovery of normal ambulation after surgical intervention. Neurologic disease in large captive felids is rare; atlanto-axial spondylomyelopathy has not been reported previously. PMID:12462492
Galloway, David S; Coke, Rob L; Rochat, Mark C; Radinsky, Mary Anne G; Hoover, John P; Carpenter, James W; Hubbard, Jennifer J; Ketz-Riley, Cornelia J
... private: How financially stable is the cord-blood bank? (Financial stability means a reduced chance that you will have to transfer your sample if the facility closes.) How many samples are processed in the facility? (A larger number of samples usually means that there are more collection ...
About 10% of blunt polytrauma cases have an underlying overt or occult spinal cord injury. All multiply injured patients should be managed expectantly and aggressively until injury is ruled out and normal physiological parameters are restored. The ability to assess these patients accurately is often limited by an associated head injury or by the absence of sensation below a complete
Bob Winter; Dave Knight
Heterotopic spinal cord? A curiosity.
Unusual morphological findings were encountered in a high cervical meningomyelocele sac of a neonate. Magnetic resonance imaging revealed a massive liquid-filled sac traversed by a linear structure. The spinal cord was seen to be located normally within the spinal canal. At operation, a spinal cord-like structure was identified within the sac. This cord terminated posteriorly at the neural tissue lining the meningomyelocele sac. There were fibrous strands connecting the cord to the sac like the rigging of a ship. The anterior end of this cord terminated in a fibrous band. It extended upwards into the spinal canal through the narrow neck of the meningomyelocele sac above the arch of the atlas. The whole of this cord, along with the meningomyelocele sac, was excised. Histological analysis confirmed that this spinal cord-like structure consisted of glial tissue with an ependymal-lined cavity. The excised sac was lined by neural tissue. PMID:8697461
Choudhury, A R; Gonog, M A; Mahmood, K
Genetics of craniofacial development and malformation
The head is anatomically the most sophisticated part of the body and its evolution was fundamental to the origin of vertebrates; understanding its development is a formidable problem in biology. A synthesis of embryology, evolution and mouse genetics is shaping our understanding of head development and in this review we discuss its application to studies of human craniofacial malformations. Many
Andrew O. M. Wilkie; Gillian M. Morriss-Kay
Dural arteriovenous malformations associated with cerebral aneurysms
Only limited information is available concerning dural arteriovenous malformations (AVMs) found in association with cerebral aneurysms. The present report focuses on six such cases, concentrating attention on clinical characteristics and significance. Of a total of 46 dural AVMs encountered over a given period, six (13%) were linked with cerebral aneurysms. Particularly strong associations were noted for dural AVMs in the
Sachio Suzuki; Ryusui Tanaka; Yoshio Miyasaka; Akira Kurata; Makoto Takano; Kiyotaka Fujii; Hiroshi Takagi
Cerebral arteriovenous malformation diagnosis and management.
Arteriovenous malformations of the brain can carry considerable morbidity and mortality in the setting of rupture. The complex angioarchitecture and hemodynamic alteration requires careful consideration in diagnostic and management approaches. In this review, the authors define the pathophysiology, outline diagnostic methods, and highlight current management approaches. PMID:24504610
Asif, Kaiz; Leschke, John; Lazzaro, Marc A
Familial Dandy-Walker malformation and leukodystrophy
We report the first familial cases with two different types of posterior fossa cystic malformation and a leukodystrophic-like aspect on cerebral magnetic resonance imaging (MRI). The girl and her brother had severe encephalopathy, marked hypotonia, absent deep tendon reflexes, macrocrania, gigantism, and dysmorphic face and extremities. The girl had generalized seizures. The boy had unilateral cataract and bilateral optic atrophy.
Véronique T. Humbertclaude; Philippe A. Coubes; Nicolas Leboucq; Bernard B. Echenne
The management of asymptomatic congenital lung malformations
Congenital Pulmonary Airway Malformation (CPAM) and lung sequestration are often discovered on routine prenatal sonography. While some lesions may be large and cause serious complications in the fetus or newborn, many will be asymptomatic at birth. Some authors advocate simple observation because of the lack of data on the incidence of long-term complications. However, there are very few described cases
Jean-Martin Laberge; Ioana Bratu; Hélčne Flageole
Dural Sinus Malformation with Dural Arteriovenous Fistula
Summary A rare case of dural sinus malformation with dural arteriovenous fistula in an infant is presented. Presenting symptom was progressive macrocrania without hydrocephalus. A high flow arteriovenous of the sigmoid sinus associated with jugular bulb diaphragm was demonstrated. Reflux in the intracranial sinus was present. The shunt was successfully occluded by transarterial embolization. The natural history and treatment strategy are discussed.
Yau, C.Kwong; Alvarez, H.; Lasjaunias, P.
Dural Sinus Malformation with Dural Arteriovenous Fistula
Summary A rare case of dural sinus malformation with dural arteriovenous fistula in an infant is presented. Presenting symptom was progressive macrocrania without hydrocephalus. A high flow AVS of the sigmoid sinus associated with jugular bulb diaphragm was demonstrated. Reflux in the intracranial sinus was present. The shunt was successfully occluded by transarterial embolization. The natural history and treatment strategy are discussed.
Yau, C.K.; Alvarez, H.; Lasjaunias, P.
Angular craniometry in craniocervical junction malformation.
The craniometric linear dimensions of the posterior fossa have been relatively well studied, but angular craniometry has been poorly studied and may reveal differences in the several types of craniocervical junction malformation. The objectives of this study were to evaluate craniometric angles compared with normal subjects and elucidate the main angular differences among the types of craniocervical junction malformation and the correlation between craniocervical and cervical angles. Angular craniometries were studied using primary cranial angles (basal and Boogard's) and secondary craniocervical angles (clivus canal and cervical spine lordosis). Patients with basilar invagination had significantly wider basal angles, sharper clivus canal angles, larger Boogard's angles, and greater cervical lordosis than the Chiari malformation and control groups. The Chiari malformation group does not show significant differences when compared with normal controls. Platybasia occurred only in basilar invagination and is suggested to be more prevalent in type II than in type I. Platybasic patients have a more acute clivus canal angle and show greater cervical lordosis than non-platybasics. The Chiari group does not show significant differences when compared with the control, but the basilar invagination groups had craniometric variables significantly different from normal controls. Hyperlordosis observed in the basilar inavagination group was associated with craniocervical kyphosis conditioned by acute clivus canal angles. PMID:23640096
Botelho, Ricardo Vieira; Ferreira, Edson Dener Zandonadi
Extradural spinal cavernous malformation: A rare but important mimic.
Abstract Purely extradural spinal cavernous malformations (ESCMs) are rare, but the number of cases reported seems to be increasing. A 44-year-old woman presented with progressive cervicothoracic back pain, lower limb paraesthesia and hypertonia. MRI showed a well-circumscribed, convex lesion in the T1-4 extradural space causing cord compression and encroaching into the left T2/3 neural foramen. Selective spinal angiography demonstrated a vascular blush at the T2/T3 level corresponding with the mass. A feeding vessel arising from the base of the T1 spinous process was identified and successfully catheterised, but embolisation was precluded by unfavourable anatomy of the posterior spinal artery. At hemilaminectomy, the lesion was found to be an ESCM. The patient went on to make a full recovery. We reviewed 71 cases of ESCM reported in the last decade. Incidence of ESCM is unclear; the largest case series reported on nine patients, but most published accounts were single case studies. Patients presented with back pain (33%), myelopathy (56%) and/or radiculopathy (39%). Onset of symptoms was usually insidious over months to years, but 30% presented with sudden-onset neurological symptoms, often due to spontaneous haemorrhage. Mean age at diagnosis was 44 (range, 2-74; SD, 19.6) years with a 1:1 sex ratio. Lesions were found at all levels except C1-C2, but a strong predilection for the dorsal thoracic spine (68%) was shown. The lesion extended into an intravertebral foramen in at least 24 cases (34%). MRI is the investigation of choice, and angiography of ESCM has rarely been described. Most (87%) were hypo- to isointense on T1 MRI while hyperintensity on T2 (91%) and avid (89%), usually homogenous gadolinium update was almost universal. Perilesional haemosiderin, characteristic of intracranial and intramedullary cavernous malformation was rarely seen. In many cases, meningioma or nerve sheath tumour was misdiagnosed prior to surgery. All patients underwent total (95%) or subtotal (5%) microsurgical resection with excellent results; all improved (23%) or recovered fully (77%) after surgery. Those who presented acutely did worse; 38% had residual deficits. PMID:24073758
Killeen, Tim; Czaplinski, Adam; Cesnulis, Evaldas
Split-Volume Treatment Planning of Multiple Consecutive Vertebral Body Metastases for Cyberknife Image-Guided Robotic Radiosurgery
Cyberknife treatment planning of multiple consecutive vertebral body metastases is challenging due to large target volumes adjacent to critical normal tissues. A split-volume treatment planning technique was developed to improve the treatment plan quality of such lesions. Treatment plans were generated for 1 to 5 consecutive thoracic vertebral bodies (CVBM) prescribing a total dose of 24 Gy in 3 fractions. The planning target volume (PTV) consisted of the entire vertebral body(ies). Treatment plans were generated considering both the de novo clinical scenario (no prior radiation), imposing a dose limit of 8 Gy to 1 cc of spinal cord, and the retreatment scenario (prior radiation) with a dose limit of 3 Gy to 1 cc of spinal cord. The split-volume planning technique was compared with the standard full-volume technique only for targets ranging from 2 to 5 CVBM in length. The primary endpoint was to obtain best PTV coverage by the 24 Gy prescription isodose line. A total of 18 treatment plans were generated (10 standard and 8 split-volume). PTV coverage by the 24-Gy isodose line worsened consistently as the number of CVBM increased for both the de novo and retreatment scenario. Split-volume planning was achieved by introducing a 0.5-cm gap, splitting the standard full-volume PTV into 2 equal length PTVs. In every case, split-volume planning resulted in improved PTV coverage by the 24-Gy isodose line ranging from 4% to 12% for the de novo scenario and, 8% to 17% for the retreatment scenario. We did not observe a significant trend for increased monitor units required, or higher doses to spinal cord or esophagus, with split-volume planning. Split-volume treatment planning significantly improves Cyberknife treatment plan quality for CVBM, as compared to the standard technique. This technique may be of particular importance in clinical situations where stringent spinal cord dose limits are required.
Sahgal, Arjun [Department of Radiation Oncology, University of California San Francisco, San Francisco, CA (United States)], E-mail: firstname.lastname@example.com; Chuang, Cynthia; Larson, David; Huang, Kim; Petti, Paula [Department of Radiation Oncology, University of California San Francisco, San Francisco, CA (United States); Weinstein, Phil [Department of Neurologic Surgery, University of California San Francisco, San Francisco, CA (United States); Ma Lijun [Department of Radiation Oncology, University of California San Francisco, San Francisco, CA (United States)
Tethered thoracic cord resulting from spinal cord herniation.
Tethered cord syndrome (TCS) usually involves tethering of the lower cord at the conus medullaris from dural abnormalities, but may occur after spinal cord herniation. A tethered thoracic spinal cord is rare. We present an unusual case of a 30-year-old woman with a history of myelopathy presumed to be secondary to T6 cord compression resulting from T6-T8 arachnoid cyst. She continued to deteriorate after partial excision of the cyst. Repeat magnetic resonance imaging suggested recurrence of the presumed arachnoid cyst with cord compression and showed tethering at T6-T8. Surgical exploration revealed myelocele with cord herniation through the anterior thoracic dura. Pathologic diagnosis showed neural tissue with gliosis. After physical therapy treatments, the patient had increased lower extremity strength, ambulated with a cane, and regained some bladder control. Progressive myelopathy may represent tethering of the cord resulting from cord herniation. Early recognition of TCS, even in patients with minimal neurologic deficits, could prevent progressive disability. PMID:9161375
Henry, A; Tunkel, R; Arbit, E; Ku, A; Lachmann, E
Malignant spinal cord compression
Opinion statement Malignant spinal cord compression is one of the most dreaded complications of cancer. If untreated, it can lead to worsening\\u000a neurologic function culminating in paralysis and sphincter incontinence. The most challenging aspect in the management of\\u000a this complication is early diagnosis because the single most important factor determining outcome is the level of neurologic\\u000a function at initiation of therapy.
Madhuri Yalamanchili; Glenn J. Lesser
NASA Astrophysics Data System (ADS)
Third Nucleus Observed with the VLT Summary New images from the VLT show that one of the two nuclei of Comet LINEAR (C/2001 A2), now about 100 million km from the Earth, has just split into at least two pieces . The three fragments are now moving through space in nearly parallel orbits while they slowly drift apart. This comet will pass through its perihelion (nearest point to the Sun) on May 25, 2001, at a distance of about 116 million kilometres. It has brightened considerably due to the splitting of its "dirty snowball" nucleus and can now be seen with the unaided eye by observers in the southern hemisphere as a faint object in the southern constellation of Lepus (The Hare). PR Photo 18a/01 : Three nuclei of Comet LINEAR . PR Photo 18b/01 : The break-up of Comet LINEAR (false-colour). Comet LINEAR splits and brightens ESO PR Photo 18a/01 ESO PR Photo 18a/01 [Preview - JPEG: 400 x 438 pix - 55k] [Normal - JPEG: 800 x 875 pix - 136k] ESO PR Photo 18b/01 ESO PR Photo 18b/01 [Preview - JPEG: 367 x 400 pix - 112k] [Normal - JPEG: 734 x 800 pix - 272k] Caption : ESO PR Photo 18a/01 shows the three nuclei of Comet LINEAR (C/2001 A2). It is a reproduction of a 1-min exposure in red light, obtained in the early evening of May 16, 2001, with the 8.2-m VLT YEPUN (UT4) telescope at Paranal. ESO PR Photo 18b/01 shows the same image, but in a false-colour rendering for more clarity. The cometary fragment "B" (right) has split into "B1" and "B2" (separation about 1 arcsec, or 500 km) while fragment "A" (upper left) is considerably fainter. Technical information about these photos is available below. Comet LINEAR was discovered on January 3, 2001, and designated by the International Astronomical Union (IAU) as C/2001 A2 (see IAU Circular 7564 [1]). Six weeks ago, it was suddenly observed to brighten (IAUC 7605 [1]). Amateurs all over the world saw the comparatively faint comet reaching naked-eye magnitude and soon thereafter, observations with professional telescopes indicated the reason for this strange behaviour: the comet's "dirty snowball" nucleus had split into two pieces (IAUC 7616 [1]). During the splitting of the nucleus, fresh material from the interior of this frozen body is suddenly exposed to the sunlight, causing a rapid increase in the evaporation process. More cometary material is released and the overall brightness increases, as more sunlight is reflected off the dust around the nucleus. The VLT observes three fragments But Comet LINEAR has just shown that it is good for another surprise. When astronomers at ESO's Paranal Observatory [2] turned the 8.2-m VLT MELIPAL telescope (UT3) towards that object in the evening of May 14, they noted that one of the two pieces of the nucleus appeared somewhat elongated. The comet is rapidly approaching the Sun - it will pass through its perihelion (the point closest to the Sun) on May 25, and it was quite low in the sky (about 20° above the western horizon). Accordingly, the image quality was not perfect, but there was no doubt that something was going on with the fragment that was closest to the Sun (denoted "B"). And indeed, when the 8.2-m VLT YEPUN telescope (UT4) obtained another image of the comet in the evening of May 16, it was obvious that fragment "B" had split into two, see PR Photos 18a-b/01 . In fact, the astronomers suspect that there may be other, smaller pieces. The distance between the two pieces of nucleus "B" of Comet LINEAR (now denoted "B1" and "B2") was only about 1 arcsec, or approximately 500 km (projected) at the present distance of the comet from the Earth (about 100 million km). The distance between these and the other nucleus ("A") increased from about 6000 km (May 14) to 7000 km (May 16). The ESO astronomers have reported their detailed findings in IAU Circular 7627 [1]. They also note that the shape of the bright cloud (the "coma") around components "B1" and "B2" is quite unsual - this is well visible on
The umbilical cord of a healthy neonate contains within it a multipotential treatment for a myriad of diseases and injuries. What was once tossed into the biohazard waste without a second thought is now known to be a goldmine of antigenically immature cells that rival the use of bone marrow for reconstitution of blood lineages. Umbilical cord blood (UCB) is emerging as an effective and feasible clinical treatment as its availability increases and benefits are realized. Basic science research has demonstrated a broad therapeutic capacity ranging from cell replacement to cell protection and anti-inflammation in a number of animal disease and injury models. UCB is easily obtained with no harm to infant or mother and can be stored at cryogenic temperatures with relatively little loss of cells upon thaw. The heterogeneous mononuclear fraction has been identified and characterized and transplanted both locally and systemically to treat animal models of stroke, myocardial infarction, Amytrophic Lateral Sclerosis, San Filippo, spinal cord injury, traumatic brain injury, and age-related neurodegeneration, among others. In the pages to follow, we share protocols for the identification and research use of the mononuclear cell fraction of UCB. PMID:19378200
Newcomb, Jennifer D; Willing, Alison E; Sanberg, Paul R
Acute spinal cord injury is a devastating disease with enormous repercussions, not only for the victims and their families but for society as a whole. Despite the advent of novel medical therapies for the treatment of these injuries, many patients with spinal cord injury remain severely incapacitated and dependent on their families and/or specialized nursing care. Much of the controversy in the treatment of these injuries stems from insufficient knowledge about the pathophysiology of the disease as well as the timing of certain treatments such as surgery. We discuss the diagnosis and management of these injuries as well as novel therapies on the horizon. The recent emphasis on evidence-based medicine has resulted in the creation of guidelines from the American Association of Neurological Surgeons and the Congress of Neurological Surgeons, which will hopefully result in some standardization of care. It is our opinion that early recognition of spinal cord injury and careful management in an intensive care setting can prevent many of the medical complications that are the major source of morbidity and mortality in these patients. PMID:17298772
Cortez, Ricardo; Levi, Allan D
Rotation of split cometary nuclei
NASA Technical Reports Server (NTRS)
A simple model for the rotational motion of split cometary nuclei is studied. A large-amplitude precession is easily excited due to the change of the moments of inertia even if the perturbation is small at the splitting. The damping timescale of the excited precession is widely ranged because of the uncertainty of the physical parameter of cometary nuclei. Another possibility for clarifying the evolution of the short period comets by studying the split cometary nuclei is also discussed.
Watanabe, Jun-Ichi
Leptogenesis from split fermions
We present a new type of leptogenesis mechanism based on a two-scalar split-fermions framework. At high temperatures the bulk scalar vacuum expectation values (VEVs) vanish and lepton number is strongly violated. Below some temperature, T{sub c}, the scalars develop extra dimension dependent VEVs. This transition is assumed to proceed via a first order phase transition. In the broken phase the fermions are localized and lepton number violation is negligible. The lepton-bulk scalar Yukawa couplings contain sizable CP phases which induce lepton production near the interface between the two phases. We provide a qualitative estimation of the resultant baryon asymmetry which agrees with current observation. The neutrino flavor parameters are accounted for by the above model with an additional approximate U(1) symmetry.
Nagatani, Yukinori; Perez, Gilad
An update on the pathogenesis of syringomyelia secondary to Chiari-like malformations in dogs.
Syringomyelia (SM) is a spinal cord disease that can cause neuropathic pain in dogs. The pathogenesis of SM secondary to Chiari-like malformation (CM) has been the focus of intense research in recent years. The gulf in our understanding of CM/SM in dogs relative to the analogous human condition has progressively narrowed. CM is primarily a disease of abnormal geometric morphometry affecting the caudal cranial fossa and the brain parenchyma contained within it. This review describes how advanced imaging techniques have revealed a series of morphometric abnormalities associated with CM/SM. The series is presented in a logical order to help describe the pathogenesis of CM and the subsequent formation of syringes, with particular reference to the concepts of craniospinal compliance and cerebrospinal fluid pulse pressure timing. PMID:23938004
Driver, C J; Volk, H A; Rusbridge, C; Van Ham, L M
Mayer-Rokitansky syndrome and anorectal malformation
Mayer Rokitansky Kuster Houser syndrome (MRKH syndrome) is characterized by Mullerian duct structures agenesis, vaginal atresia\\u000a being the commonest variant. It can be associated with renal, skeletal, spine and other malformations. Patient with Mayer\\u000a Rokitansky syndrome has a varied presentation from newborn period to adolescence. Thorough investigations are required for\\u000a classification of the syndrome and diagnosis of associated anomalies. The
Shreeprasad P. Patankar; Vijay Kalrao I; Shilpa S. Patankar
[Localized cystic lymphatic malformation (or cutaneous lymphangiomas)].
Cutaneous cystic lymphatic malformations consist of dilatations of various sizes, developed from the lymphatic system. Various clinical presentations exist, which are more or less complex and severe. MRI is the best examination to determine the extent of deep lesions. Therapeutic decisions usually follow multidisciplinary consultations. In localized superficial forms, whether surgical excision or abstention is required. In macrocystic forms, sclerotherapy is the first-line treatment. PMID:21074349
Lorette, Gérard; Vaillant, Loďc; Wiersbicka, Ewa; Herbreteau, Denis
Embolization and radiosurgery for arteriovenous malformations
The treatment of arteriovenous malformations (AVMs) requires a multidisciplinary management including microsurgery, endovascular embolization, and stereotactic radiosurgery (SRS). This article reviews the recent advancements in the multimodality treatment of patients with AVMs using endovascular neurosurgery and SRS. We describe the natural history of AVMs and the role of endovascular and radiosurgical treatment as well as their interplay in the management of these complex vascular lesions. Also, we present some representative cases treated at our institution.
Plasencia, Andres R.; Santillan, Alejandro
Malformations of cortical development and epilepsy
Malformations of cortical development (MCDs) are macroscopic or microscopic abnormalities of the cerebral cortex that arise as a consequence of an interruption to the normal steps of formation of the cortical plate. The human cortex develops its basic structure during the first two trimesters of pregnancy as a series of overlapping steps, beginning with proliferation and differentiation of neurons, which then migrate before finally organizing themselves in the developing cortex. Abnormalities at any of these stages, be they environmental or genetic in origin, may cause disruption of neuronal circuitry and predispose to a variety of clinical consequences, the most common of which is epileptic seizures, A large number of MCDs have now been described, each with characteristic pathological, clinical, and imaging features. The causes of many of these MCDs have been determined through the study of affected individuals, with many MCDs now established as being secondary to mutations in cortical development genes. This review will highlight the best-known of the human cortical malformations associated with epilepsy. The pathological, clinical, imaging, and etioiogic features of each MCD will be summarized, with representative magnetic resonance imaging (MRI) images shown for each MCD, The malformations tuberous sclerosis, focal cortical dysplasia, hemimegalencephaiy, classical iissencephaly, subcortical band heterotopia, periventricular nodular heterotopia, polymicrogyria, and schizencephaly will be presented.
Leventer, Richard J.; Guerrini, Renzo; Dobyns, William B.
Complex malformation of the inferior vena cava.
Malformations of the inferior vena cava (IVC) are rare presentations, exceptional in children, and are usually asymptomatic.They are caused by disturbances in the embryological formation of the venous system or can develop as a result of perinatal venous thrombosis with secondary impairment of the venous development. We report the case of a 14 year old boy,admitted for pediatric evaluation before undergoing plastic surgery in order to remove superficial varicose veins of the lower abdomen. The patient presents with inequality in circumference and length of the legs. Laboratory investigations are normal and the abdominal ultrasound describes hypoplasia of the retrohepatic segment of the inferior vena cava. The diagnosis of complex malformation of the abdominal deep venous system (retrohepatic vena cava atresia, cavo-caval anastomosis through azygos veins, abnormal formation of the inferior vena cava with the absence of the left iliac vein) was established through a CT angiography. The presence of abdominal varicose dilations should indicate the necessity to closely look for malformations of the portal and/or caval venous systems. PMID:24742422
Lesanu, G; Balanescu, R; Pacurar, D; Iaru, O; Vlad, R M; Topor, L; Oraseanu, D
Congenital lung malformations: an ongoing controversy
Introduction Congenital lung malformations are rare lesions that are most commonly diagnosed antenatally. Management of such lesions, particularly those that are asymptomatic, remains controversial. We undertook a survey to ascertain current practice of surgeons in the UK and Ireland. Methods All consultant members of the British Association of Paediatric Surgeons were asked to complete a survey on congenital lung malformations with respect to antenatal management, symptomatic and asymptomatic lesions, and operative techniques. Results Responses were received from 20 paediatric surgical centres and highlighted the ongoing variability in management of such lesions, particularly those that are asymptomatic. Twenty per cent of surgeons never resect an asymptomatic lesion and twenty-four per cent always do. The remainder intervene selectively, with size being the most commonly stated indication. Most resections are undertaken via thoracotomy although 35% of surgeons use thoracoscopy for some procedures. Conclusions National data based on congenital anomaly registers are needed to determine the natural history of these malformations and to guide future management.
Burge, DM; Marven, SS
Neuroembryology and brain malformations: an overview.
Modern neuroembryology integrates descriptive morphogenesis with more recent insight into molecular genetic programing and data enabled by cell-specific tissue markers that further define histogenesis. Maturation of individual neurons involves the development of energy pumps to maintain membrane excitability, ion channels, and membrane receptors. Most malformations of the nervous system are best understood in the context of aberrations of normal developmental processes that result in abnormal structure and function. Early malformations usually are disorders of genetic expression along gradients of the three axes of the neural tube, defective segmentation, or mixed lineages of individual cells. Later disorders mainly involve cellular migrations, axonal pathfinding, synaptogenesis, and myelination. Advances in neuroimaging now enable the diagnosis of many malformations in utero, at birth, or in early infancy in the living patient by abnormal macroscopic form of the brain. These images are complimented by modern neuropathological methods that disclose microscopic, immunocytochemical, and subcellular details beyond the resolution of MRI. Correlations may be made of both normal and abnormal ontogenesis with clinical neurological and EEG maturation in the preterm or term neonate for a better understanding of perinatal neurological disease. Precision in terminology is a key to scientific communication. PMID:23622157
Sarnat, Harvey B; Flores-Sarnat, Laura
Complex combined vascular malformations and vascular malformation syndromes affecting the extremities in children.
Complex combined vascular malformations affecting extremities are an interesting group of vascular malformations because, in addition to the vascular channel anomalies present, they can be associated with other tissue changes and sometimes altered limb growth. At present, magnetic resonance imaging is the gold standard imaging tool to evaluate such complex conditions in children because of its inherent tissue specificity and vascular capabilities that enables characterization of tissues and the vascular channel anomalies both for diagnosis and management of the patient. A brief review of some of these conditions is presented, including Klippel-Trénaunay syndrome, Parkes Weber syndrome, extensive diffuse low-flow venous malformations, Bannayan-Riley-Ruvalcaba syndrome, cutis marmorata telangiectatica congenita, Maffucci's syndrome, and Gorham-Stout disease. PMID:19724993
Lobo-Mueller, Edrise; Amaral, Joao G; Babyn, Paul S; Wang, Qiuyan; John, Philip
Distribution of syringomyelia along the entire spinal cord in clinically affected Cavalier King Charles Spaniels.
Chiari-like malformation (CM) and syringomyelia (SM) is an important disease complex in the Cavalier King Charles Spaniel (CKCS) but data about the anatomical distribution of SM along the spinal cord are lacking in veterinary medicine. The objective of this study was to define the anatomic distribution of SM in CKCS clinically affected by CM/SM. Magnetic resonance imaging (MRI) of the brain and the entire spinal cord of 49 dogs was performed and different morphological parameters compared. Syrinx formation was present in the C1-C4 region and in other parts of the spinal cord. The maximal dorsoventral syrinx size can occur in any region of the spinal cord and the total syrinx size was positively correlated with age. Seventy-six per cent of CKCS with a cranial cervical syrinx also have a syrinx affecting more caudal spinal cord regions. MRI restricted to the cervical region may underestimate the extent of SM and the severity of the disease process in the majority of dogs. PMID:21216639
Loderstedt, Shenja; Benigni, Livia; Chandler, Kate; Cardwell, Jacqueline M; Rusbridge, Clare; Lamb, Christopher R; Volk, Holger A
Myelopathy due to lumbar disc herniation in the presence of a tethered cord.
Study design:Single case report.Objectives:To present a case of lumbar disc herniation causing compression of a tethered cord that was successfully treated with lumbar decompression and fusion.Background:A tethered cord is a rare pathology associated with a congenital spinal malformation, spinal dysraphism. Furthermore, myelopathy due to lumbar disc herniation in the presence of a tethered cord is extremely rare.Methods:Single case report.Results:A 43-year-old male with a history of spina bifida presented to our clinic for an evaluation of a progressive spastic gait disturbance and numbness in the lower limbs. A neurological examination revealed muscle weakness and pyramidal tract signs in the lower limbs. Magnetic resonance imaging of the lumbar spine showed disc herniation at L2-3 causing compression of a low-lying cord. Surgical intervention, including herniotomy via a posterolateral approach and instrumented posterolateral fusion, was performed, and a good outcome was achieved 1 year after the surgery.Conclusion:The potential for lumbar disc herniation in the presence of a tethered cord should be taken into account in the differential diagnosis of spinal pathologies causing spastic gait disturbances. Furthermore, posterior decompression and fusion is a useful treatment option in such cases. PMID:24902642
Endo, F; Iizuka, H; Iizuka, Y; Kobayashi, R; Mieda, T; Takagishi, K
Cytoarchitecture and Transcriptional Profiles of Neocortical Malformations in Inbred Mice
Malformations of neocortical development are associated with cognitive dysfunction and increased susceptibility to epileptogenesis. Rodent models are widely used to study neocortical malformations and have revealed important genetic and environmental mechanisms that contribute to neocortical development. Interestingly, several inbred mice strains commonly used in behavioral, anatomical, and/or physiological studies display neocortical malformations. In the present report we examine the cytoarchitecture and myeloarchitecture of the neocortex of 11 inbred mouse strains and identified malformations of cortical development, including molecular layer heterotopia, in all but one strain. We used in silico methods to confirm our observations and determined the transcriptional profiles of cells found within heterotopia. These data indicate cellular and transcriptional diversity present in cells in malformations. Furthermore, the presence of dysplasia in nearly every inbred strain examined suggests that malformations of neocortical development are a common feature in the neocortex of inbred mice.
Ramos, Raddy L.; Smith, Phoebe T.; DeCola, Christopher; Tam, Danny; Corzo, Oscar
Malformations in neotropical viperids: qualitative and quantitative analysis.
Malformations can occur in all living species, but there is little information about anomalies that occur in snakes and their frequency. This study assessed malformations in newborn South American pit vipers (Bothrops jararaca) and South American rattlesnakes (Crotalus durissus) from wild captured pregnant females (240 and 35 litters, respectively). Newborn snakes were measured, weighed, sexed and studied grossly and by radiography for the presence of malformations. Ninety-five malformed pit vipers were identified from 4,087 births (2.3%), while 36 malformed rattlesnakes were found from 324 births (11.1%). Spinal abnormalities were the most common in both species, followed by fusion of ventral scales. Pit vipers showed a greater range of malformations including schistosomia (22.1%), kinked tail (13.7%), bicephaly (3.1%) and hydrocephaly (2.1%). PMID:23885804
Sant'Anna, S S; Grego, K F; Lorigados, C A B; Fonseca-Pinto, A C B C; Fernandes, W; Sá-Rocha, L C; Catăo-Dias, J L
Water splitting - A progress report
This paper summarizes progress on the General Atomic Co. water splitting program begun in 1972. The search for cycles is discussed. The most promising cycle discovered by that search is described (an all liquid\\/gas cycle using sulfur and iodine), and the general constraints placed on any water splitting cycle by an HTGR heat source are discussed.
J. L. Russell Jr.; K. H. McCorkle; J. H. Norman; J. T. Porter II; T. S. Roemer; J. R. Schuster; R. S. Sharp
M.R.I. spectrum of intrinsic spinal cord lesions.
We report our experience of 42 patients undergoing magnetic resonance imaging (MRI) studies demonstrating intrinsic lesions of the spinal cord, excluding those secondary to spondylosis, trauma or congenital malformations. Histological confirmation of the radiological diagnosis was obtained in 15 (36%). MRI is more sensitive than either myelography or CT. MRI identified a previously non-visualised lesion in 17 of 30 cases. In a further 13 cases, MRI contributed by identifying associated features such as cysts and haemorrhage which have aided in the diagnosis and management of the patients. The last 12 cases, which were patients with multiple sclerosis, had MRI as the only neuroradiological examination. These illustrate a range of appearances. The overlap of imaging appearances of the various pathologies implies that a useful diagnosis and differential can only be offered by considering the MRI appearances of a lesion, with its associated features, with the clinical presentation, and with other imaging modalities where appropriate. PMID:1763983
Low, V; Khangure, M S
La « malformation ĺ de Chiari dans le syndrome de Crouzon
Background.- Use of MRI makes the association Chiari malformation-cranio-facial synostosis more frequent than expected. The aim of this work was to ascertain the true incidence of Chiari malformation and to understand the reasons of the association between a bone pathology and a CNS malformation.Patients and methods.- The anatomy of the posterior cranial fossa in Crouzon syndrome was retrospectively studied on
G Cinalli; D Renier; G Sebag; C Sainte-Rose; E Arnaud; A Pierre-Kahn
A Cluster of Hypoplastic Left Heart Malformation in Baltimore, Maryland
Congenital cardiovascular malformations (CCVMs) of the left side of the heart show familial recurrence of various forms of\\u000a obstructive malformations, including hypoplastic left heart (HLH), interrupted aortic arch, coarctation of the aorta, and\\u000a aortic stenosis. In a previous population-based study in the Baltimore–Washington region, these malformations were associated\\u000a with parental reports of occupational or leisure solvent exposure, overt diabetes, and
K. S. Kuehl; C. A. Loffredo
NASA Technical Reports Server (NTRS)
This animation shows the view from the front hazard avoidance cameras on the Mars Exploration Rover Spirit as the rover turns 45 degrees clockwise. This maneuver is the first step in a 3-point turn that will rotate the rover 115 degrees to face west. The rover must make this turn before rolling off the lander because airbags are blocking it from exiting off the front lander petal. Before this crucial turn could take place, engineers instructed the rover to cut the final cord linking it to the lander. The turn took around 30 minutes to complete.
NASA Technical Reports Server (NTRS)
This animation shows the view from the rear hazard avoidance cameras on the Mars Exploration Rover Spirit as the rover turns 45 degrees clockwise. This maneuver is the first step in a 3-point turn that will rotate the rover 115 degrees to face west. The rover must make this turn before rolling off the lander because airbags are blocking it from exiting from the front lander petal. Before this crucial turn took place, engineers instructed the rover to cut the final cord linking it to the lander. The turn took around 30 minutes to complete.
Retained Microcatheter after Onyx Embolization of Intracranial Arteriovenous Malformation
Endovascular embolization is being increasingly used to treat intracranial arteriovenous malformations (AVMs). However, we experienced two patients with retained microcatheters after AVM embolization using Onyx.
Lee, Jae Il; Ko, Jun Kyeung; Lee, Tae Hong
Malformations among the X-linked intellectual disability syndromes.
Malformations are significant contributions to childhood mortality and disability. Their co-occurrence with intellectual disability may compound the health burden, requiring additional evaluation and management measures. Overall, malformations of greater or lesser severity occur in at least some cases of almost half of the 153 XLID syndromes. Genitourinary abnormalities are most common, but tend to contribute little or no health burden and occur in only a minority of cases of a given XLID syndrome. Some malformations (e.g., lissencephaly, hydranencephaly, long bone deficiency, renal agenesis/dysplasia) are not amenable to medical or surgical intervention; others (e.g., hydrocephaly, facial clefting, cardiac malformations, hypospadias) may be substantially corrected. PMID:24166814
Stevenson, Roger E; Schwartz, Charles E; Rogers, R Curtis
Retained microcatheter after onyx embolization of intracranial arteriovenous malformation.
Endovascular embolization is being increasingly used to treat intracranial arteriovenous malformations (AVMs). However, we experienced two patients with retained microcatheters after AVM embolization using Onyx. PMID:22949969
Lee, Jae Il; Choi, Chang Hwa; Ko, Jun Kyeung; Lee, Tae Hong
Associated malformations among infants with neural tube defects.
Infants with neural tube defects (NTDs) often have associated congenital anomalies. The reported frequency and types of associated malformations vary between different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with NTDs in a geographically well-defined population from 1979 to 2008 of 402,532 consecutive births. Of the 441 infants with NTDs born during this period, 20.4% had associated malformations. Infants with associated malformations were divided into those with recognizable conditions [11 (2.5%) infants with chromosomal and 23 (5.2%) with non-chromosomal conditions], and those without recognizable conditions [56 (12.7%) infants with multiple malformations]. Associated malformations were more frequent among infants with encephalocele (36.8%) than those with anencephaly (11.5%) or spina bifida (23.8%). Oral clefts and malformations in the musculoskeletal, renal and cardiovascular systems were the most commonly observed associated anomalies. The frequency of associated malformations in infants with NTDs emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations, especially facial clefts and musculoskeletal, renal and cardiac anomalies, may need to be considered in infants with NTDs, and referral of these infants for genetics evaluation and counseling seems warranted. PMID:21337695
Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule
Associated malformations among infants with radial ray deficiency.
Infants with radial ray deficiencies very often have other associated congenital anomalies. The reported frequency and types of associated malformations vary between different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with radial ray deficiencies in a geographically well-defined population from 1979 to 2004 of 346,831 consecutive births. Of the 73 infants with radial ray deficiencies born during this period (prevalence at birth of 2.1 per 10,000), 75% had associated malformations. Infants with associated malformation were divided into recognizable conditions (16 (22%) infants with chromosomal and 20 (27%) with non chromosomal conditions), and non recognizable conditions (19 (26%) infants with multiple malformations). Trisomies 18 and autosomal deletions were the most frequent chromosomal abnormalities. VACTERL association, thrombocytopenia absent radii syndrome, Fanconi anemia and Holt-Oram syndrome were most often present in recognizable non chromosomal conditions. Malformations in the musculoskeletal, cardiovascular and urogenital systems were the most common other anomalies in infants with multiple malformations and non recognizable conditions. The frequency of associated malformations in infants with radial ray deficiencies emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations especially musculoskeletal, cardiac and urogenital systems anomalies may need to be considered in infants with radial ray deficiencies, and referral of these infants for genetic evaluation and counseling seems warranted. PMID:24032294
Stoll, C; Dott, B; Alembik, Y; Roth, M-P
Retraining the injured spinal cord
NASA Technical Reports Server (NTRS)
The present review presents a series of concepts that may be useful in developing rehabilitative strategies to enhance recovery of posture and locomotion following spinal cord injury. First, the loss of supraspinal input results in a marked change in the functional efficacy of the remaining synapses and neurons of intraspinal and peripheral afferent (dorsal root ganglion) origin. Second, following a complete transection the lumbrosacral spinal cord can recover greater levels of motor performance if it has been exposed to the afferent and intraspinal activation patterns that are associated with standing and stepping. Third, the spinal cord can more readily reacquire the ability to stand and step following spinal cord transection with repetitive exposure to standing and stepping. Fourth, robotic assistive devices can be used to guide the kinematics of the limbs and thus expose the spinal cord to the new normal activity patterns associated with a particular motor task following spinal cord injury. In addition, such robotic assistive devices can provide immediate quantification of the limb kinematics. Fifth, the behavioural and physiological effects of spinal cord transection are reflected in adaptations in most, if not all, neurotransmitter systems in the lumbosacral spinal cord. Evidence is presented that both the GABAergic and glycinergic inhibitory systems are up-regulated following complete spinal cord transection and that step training results in some aspects of these transmitter systems being down-regulated towards control levels. These concepts and observations demonstrate that (a) the spinal cord can interpret complex afferent information and generate the appropriate motor task; and (b) motor ability can be defined to a large degree by training.
Edgerton, V. R.; Leon, R. D.; Harkema, S. J.; Hodgson, J. A.; London, N.; Reinkensmeyer, D. J.; Roy, R. R.; Talmadge, R. J.; Tillakaratne, N. J.; Timoszyk, W.; Tobin, A.
A unifying hypothesis for hydrocephalus, Chiari malformation, syringomyelia, anencephaly and spina bifida
This work is a modified version of the Casey Holter Memorial prize essay presented to the Society for Research into Hydrocephalus and Spina Bifida, June 29th 2007, Heidelberg, Germany. It describes the origin and consequences of the Chiari malformation, and proposes that hydrocephalus is caused by inadequate central nervous system (CNS) venous drainage. A new hypothesis regarding the pathogenesis, anencephaly and spina bifida is described. Any volume increase in the central nervous system can increase venous pressure. This occurs because veins are compressible and a CNS volume increase may result in reduced venous blood flow. This has the potential to cause progressive increase in cerebrospinal fluid (CSF) volume. Venous insufficiency may be caused by any disease that reduces space for venous volume. The flow of CSF has a beneficial effect on venous drainage. In health it moderates central nervous system pressure by moving between the head and spine. Conversely, obstruction to CSF flow causes localised pressure increases, which have an adverse effect on venous drainage. The Chiari malformation is associated with hindbrain herniation, which may be caused by low spinal pressure relative to cranial pressure. In these instances, there are hindbrain-related symptoms caused by cerebellar and brainstem compression. When spinal injury occurs as a result of a Chiari malformation, the primary pathology is posterior fossa hypoplasia, resulting in raised spinal pressure. The small posterior fossa prevents the flow of CSF from the spine to the head as blood enters the central nervous system during movement. Consequently, intermittent increases in spinal pressure caused by movement, result in injury to the spinal cord. It is proposed that posterior fossa hypoplasia, which has origins in fetal life, causes syringomyelia after birth and leads to damage to the spinal cord in spina bifida. It is proposed that hydrocephalus may occur as a result of posterior fossa hypoplasia, where raised pressure occurs as a result of obstruction to flow of CSF from the head to the spine, and cerebral injury with raised pressure occurs in anencephaly by this mechanism. The current view of dysraphism is that low central nervous system pressure and exposure to amniotic fluid, damage the central nervous system. The hypothesis proposed in this essay supports the view that spina bifida is a manifestation of progressive hydrocephalus in the fetus. It is proposed that that mesodermal growth insufficiency influences both neural tube closure and central nervous system pressure, leading to dysraphism.
Williams, Helen
Laser treatment of oral vascular malformations
NASA Astrophysics Data System (ADS)
Oral Vascular Malformations (OVM) are congenital anomalies characterized by morph-structural and/or functional changes of nature in severity and extension. OVM can affect any type of vessels arterial, venous or lymphatic and any capillary or anatomical. They are divided into two categories: low and high flow. In this study were treated 40 patients with OVM with a range size from 2 mm to 44 mm; they were subjected to clinical examination supported by Colour-Doppler Ultrasound instrumental examination and only for doubt cases the Magnetic Resonance Imaging (MRI) was prescribed. Only low flow venous and capillary malformations were treated by GaAlAs laser (Wiser®, Lambda, Brindole,Italy, 980nm) and KTP laser (SmartLite®, DEKA, Florence, Italy, 532nm) with two different techniques: the Transmucosal Thermophotocoagulation (TMT) and the Intralesional Photocoagulation (ILP). These techniques permitted a good control of haemostasis, avoiding bleeding both during surgery and in the postoperative. It is obtained an excellent and good healing respectively in 10% and 60% of cases, a moderate and poor resolution respectively in 22.5% and 7.5% of cases. A clear diagnosis allowed the management of Venous malformations (VM) by laser devices with wavelengths highly absorbed in haemoglobin in safety and efficacy and according to the principles of minimal invasive surgery. The aim of this study was to verify if the laser is effective in the treatment of OVM for the purpose of the clinical findings and the postoperative course. The Authors concluded that the laser can be considered the "gold standard" for treating OVM.
Romeo, U.; Gaimari, G.; Mohsen, M.; Tenore, G.; Palaia, G.
Endovascular management of spinal arteriovenous malformations.
Spinal arteriovenous malformations (sAVMs) are rare vascular lesions whose natural history remains incompletely defined. Several classification schemes for sAVMs have evolved based on an improved understanding of the anatomic characteristics as well as pathophysiologic behavior of these arteriovenous shunts. Advances in endovascular technology have inspired the adoption of interventional techniques both as stand-alone treatment and as part of a multi-modality management paradigm for sAVMs. Further refinements in liquid embolic agents as well as improved microcatheter navigability will contribute to an ever-expanding role for endovascular intervention in the management of these lesions. PMID:22935350
Ducruet, Andrew F; Crowley, R Webster; McDougall, Cameron G; Albuquerque, Felipe C
Spinal Arteriovenous Malformation Masquerating Zoster Sine Herpete
Zoster sine herpete (ZSH) is difficult to diagnosis during an acute period due to the absence of the characteristic zosteriform dermatomal rash; therefore, progression to postherpetic neuralgia is more common than typical zoster. In addition, misdiagnosis of other neuropathic pain as ZSH is common in clinical situations. Here, we report a case of spinal arteriovenous malformation that mimics ZSH. This is a rare condition; therefore, high clinical suspicion for a correct diagnosis and proper examination are not easy. However, early diagnosis and definitive treatment are essential to prevent neurologic deficit and mortality.
Lee, Ji Young; Ok, Se Jin; Oh, Chang Keun; Park, Sun Kyung; Kim, Do Wan
Pediatric aneurysms and vein of Galen malformations
Pediatric aneurysms are different from adult aneurysms – they are more rare, are giant and in the posterior circulation more frequently than in adults and may be associated with congenital disorders. Infectious and traumatic aneursyms are also seen more frequently. Vein of Galen malformations are even rarer entities. They may be of choroidal or mural type. Based on the degree of AV shunting they may present with failure to thrive, with hydrocephalus or in severe cases with heart failure. The only possible treatment is by endovascular techniques – both transarterial and transvenous routes are employed. Rarely transtorcular approach is needed. These cases should be managed by an experienced neurointerventionist.
Rao, V. R. K.; Mathuriya, S. N.
Intraventricular Cavernous Malformation Radiologically Mimicking Meningioma
We report a case of trigonal cavernous malformation (CM) radiologically mimicking meningioma. The computed tomographic (CT) head angiography and magnetic resonance imaging (MRI) showed a partially calcified lesion with slight contrast enhancement located in the area of the left atrium of lateral ventricle. The lesion was completely removed using microsurgery with a parieto-occipital transcortical approach. The resected mass was histologically confirmed as CM. CM should be considered as differential diagnosis in case of the atrial mass lesion due to lack of hemosiderin ring characteristically seen other seated CM.
Jin, Sung-Chul; Ahn, Jae-Sung; Kwon, Do Hoon
The pediatric Chiari I malformation: a review
Background Both the diagnosis and treatment regimens for the Chiari I malformation (CIM) are varied and controversial. The present paper\\u000a analyzes the literature regarding this form of hindbrain herniation in regard to definition, anatomy, pathobiology, symptoms,\\u000a findings, treatment, and outcomes.\\u000a \\u000a \\u000a \\u000a Discussions Appropriate literature germane to the CIM is reviewed and discussed. There is variation in the reported anatomy, outcome,\\u000a and treatment for
R. Shane Tubbs; Michael J. Lyerly; Marios Loukas; Mohammadali M. Shoja; W. Jerry Oakes
Animal Model for Cerebral Arteriovenous Malformation
Summary \\u000a ?Background. The present study was conducted to establish an animal model for the investigation of the pathophysiology and haemodynamics\\u000a of cerebral arteriovenous malformation (AVM) but also to assess therapeutic aspects.\\u000a \\u000a \\u000a \\u000a ?Method. For anatomic and haemodynamic reasons, dogs were chosen as the animal model. An arteriovenous fistula was created by interposing\\u000a a segment of the superficial temporal artery between one
T. A. Pietilä; J. M. Zabramski; A. Thčllier-Janko; K. Duveneck; W. D. Bichard; M. Brock; R. F. Spetzler
Apparatus Splits Glass Tubes Longitudinally
NASA Technical Reports Server (NTRS)
Tubes split into half cylinders by hot-wire/thermal-shock method. Tube to be cut placed on notched jig in apparatus. Nichrome wire stretched between arms of pivoted carriage and oriented parallel to notch. Wire heated by electrical current while resting on tube. After heating for about 1 minute for each millimeter of thickness of glass, tube quenched in water and split by resulting thermal shock. Apparatus used to split tubes in sizes ranging from 3/8 in. in diameter by 1 in. long to 1 1/2 in. in diameter by 4 in. long.
Shaw, Ernest; Manahan, Robert O'neil
Cervical Spinal Cord Injury and Deglutition Disorders
The association of cervical spinal cord injury and swallowing disorders is clinically well recognized. This study was performed to determine the clinical significance and the outcome of deglutition disorders observed in the initial treatment of cervical spinal cord injury in our tertiary care spinal cord injury unit. All patients with cervical spinal cord injury admitted to our facility for initial
Rainer Abel; Silke Ruf; Bernhard Spahn
Attitudes Towards Individuals with Spinal Cord Injuries
ERIC Educational Resources Information Center
This paper will shed light on the lives of persons with spinal cord injuries by revealing the literature on spinal cord injuries that focuses on research that can shed light on attitudes towards persons with spinal cord injuries. The background literature related to incidences, the definition of spinal cord injury, and vocational opportunities are…
Conway, Cassandra Sligh D.; Gooden, Randy; Nowell, Jennifer; Wilson, Navodda
Banking on cord blood stem cells
Umbilical cord blood gifted to non-profit public cord blood banks is now routinely used as an alternative source of haematopoietic stem cells for allogeneic transplantation for children and adults with cancer, bone marrow failure syndromes, haemoglobinopathies and many genetic metabolic disorders. Because of the success and outcomes of public cord banking, many companies now provide private cord banking services. However,
Michael J. Sullivan
Three theories of regeneration dominate neuroscience today, all purporting to explain why the adult central nervous system (CNS) cannot regenerate. One theory proposes that Nogo, a molecule expressed by myelin, prevents axonal growth. The second theory emphasizes the role of glial scars. The third theory proposes that chondroitin sulfate proteoglycans (CSPGs) prevent axon growth. Blockade of Nogo, CSPG, and their receptors indeed can stop axon growth in vitro and improve functional recovery in animal spinal cord injury (SCI) models. These therapies also increase sprouting of surviving axons and plasticity. However, many investigators have reported regenerating spinal tracts without eliminating Nogo, glial scar, or CSPG. For example, many motor and sensory axons grow spontaneously in contused spinal cords, crossing gliotic tissue and white matter surrounding the injury site. Sensory axons grow long distances in injured dorsal columns after peripheral nerve lesions. Cell transplants and treatments that increase cAMP and neurotrophins stimulate motor and sensory axons to cross glial scars and to grow long distances in white matter. Genetic studies deleting all members of the Nogo family and even the Nogo receptor do not always improve regeneration in mice. A recent study reported that suppressing the phosphatase and tensin homolog (PTEN) gene promotes prolific corticospinal tract regeneration. These findings cannot be explained by the current theories proposing that Nogo and glial scars prevent regeneration. Spinal axons clearly can and will grow through glial scars and Nogo-expressing tissue under some circumstances. The observation that deleting PTEN allows corticospinal tract regeneration indicates that the PTEN/AKT/mTOR pathway regulates axonal growth. Finally, many other factors stimulate spinal axonal growth, including conditioning lesions, cAMP, glycogen synthetase kinase inhibition, and neurotrophins. To explain these disparate regenerative phenomena, I propose that the spinal cord has evolved regenerative mechanisms that are normally suppressed by multiple extrinsic and intrinsic factors but can be activated by injury, mediated by the PTEN/AKT/mTOR, cAMP, and GSK3b pathways, to stimulate neural growth and proliferation. PMID:24816452
Young, Wise
Embolization of Vascular Malformations in Head and Neck Regions
Summary The purpose of this study is to determine the effectiveness of embolization of each type of vascular malformation. Thirty three patients with a diagnosis of vascular malformations in head and neck regions who were treated by embolization at Siriraj Hospital, Thailand, between 1997-2002 were reviewed retrospectively. There were 19 arteriovenous malformations (AVMs), two arteriolar-capillary types, ten venous malformations, one veno-lymphatic malformation and one mixed capillary and venous types. The goal of treatment is to restore function and to prevent bleeding complications with particularly good cosmetic results. The technique and therapeutic agents depended on the types and flow characteristics of each malformation. Transarterial embolization with N-butyl cyanoacrylate were used in AVMs, unless no arterial route approach, then direct puncture was tried. This was carried out in five patients with AVMs. Polyvinyl alcohol was used in two capillary lesions. All venous malformations were treated by absolute alcohol injection, percutaneously. All had good outcome without serious complications. Two patients had further plastic surgery, one was AVM of eyelid and the other was facial venolymphatic malformation. Embolization is considered to be the primary treatment by eradication of those abnormal vessels directly at the target, whereas delayed plastic surgery may be needed later.
Churojana, A.; Chiewwit, P.; Chuangsuwanich, A.; Aojanepong, C.; Chawalaparit, O.; Suthipongchai, S.
Long term respiratory outcomes of congenital thoracic malformations.
The advent of universal antenatal ultrasonography in many countries has revealed the full spectrum of congenital thoracic malformations (CTMs) and presented clinicians with a number of practical dilemmas to do with diagnosis and management. We present a review of the most common forms of CTMs, including congenital cystic adenomatoid malformation, bronchopulmonary sequestration, and lobar and segmental emphysema. PMID:22305631
Davenport, Mark; Eber, Ernst
Congenital Malformations in Perinatal Autopsies - A Study of 100 Cases
Background Congenital malformations remain a common cause of perinatal deaths and even though ultrasonogram can give fairly accurate diagnosis, perinatal autopsy is essential to confirm the diagnosis and look for associated malformations. Objectives To emphasize the importance of perinatal autopsy in diagnosing congenital malformations and to compare the same with the prenatal ultrasound findings. Methods The present study comprises 100 consecutive perinatal autopsies conducted after obtaining the approval from the Institutional Ethics Committee. In cases where prenatal ultrasound findings were available they were compared with the autopsy findings. Results Out of 100 perinatal autopsies, 44 cases were congenital anomalies with M:F = 1:1.5. Majority of the fetuses with congenital malformations (36.36%) were therapeutically terminated, Cental nervous system malformations being the commonest indication. The most common timing of therapeutic termination being 20 -24weeks. Congenital malformations were common between 35-39 weeks gestational age and birth weight range 350- 1000g. The malformations involving the central nervous system were commonest, seen in 15 cases (34.09%) followed by renal anomalies in 9 cases (20.45%) and multiple malformations in 7cases ( 15.91%). Autopsy confirmed the prenatal ultrasound findings in 50% of the cases, added to diagnosis in 29.54%, while it completely changed the primary diagnosis in 9.09% of the cases. Conclusion This study highlights the importance of perinatal autopsy in confirming the diagnosis of congenital anomalies by prenatal ultrasound findings.
Andola, Uma S; AM, Anita; Ahuja, Mukta; Andola, Sainath K
Ethanol Sclerotherapy of Superficial Venous Malformation: A New Procedure
Background: Superficial venous malformations (SVM) are the most frequent vascular malformations. Outpatient percutaneous treatment with ethanol injection has rarely been described. Objective: To analyze the results from treating SVM patients with ethanol sclerotherapy. Methods: 81 patients were followed up prospectively over a median period of 18 months. 47 were female and 34 were male with a median age of 21
José Luiz Orlando; Jose Guilherme Mendes Pereira Caldas; Heloisa Galvăo do Amaral Campos; Kenji Nishinari; Nelson Wolosker
Variations of some elements in cadmium-induced malformed fish
Reports of malformation induced by cadmium such as the appearance of vertebral anomalies in carp have been described by the present author. In this paper, the appearance of such malformed fish by exposure to cadmium was confirmed in a repeat experiment. Decalcification of the fish was studied from spinal x-ray photographs and the results of some elements analysis.
Muramoto, S.
Dandy-Walker malformation: prenatal diagnosis and prognosis
IntroductionThe difficulty in prognosticating the clinical and intellectual outcome of fetuses presenting with a Dandy-Walker malformation (DWM) comes from the great variety of cystic, median, and retrocerebellar malformations that probably have nothing in common and the variability of the definitions given to these lesions. In addition, many of these lesions can mimic each other. A correct diagnosis cannot be made
O. Klein; A. Pierre-Kahn; N. Boddaert; D. Parisot; F. Brunelle
Vaginal agenesis or distal vaginal atresia associated with anorectal malformations
Background: Mayer-Rokitansky-Küster-Hauser syndrome is defined as Müllerian aplasia with vaginal agenesis and uterine remnants. It is commonly associated with renal and sometimes vertebral anomalies. MRKH syndrome or distal vaginal atresia is sometimes associated with anorectal malformations. The purpose of this study was to describe seven females with vaginal agenesis or distal vaginal atresia and an anorectal malformation and review the
Tomas Wester; Juan A. Tovar; Risto J. Rintala
Cerebral Arteriovenous Malformation Embolized through Persistent Primitive Hypoglossal Artery
Summary Carotid-vertebral anastomoses are commonly detected as incidental findings. But sometimes these channels are important for the clinical condition of the patient. Here a case of right thalamo-capsular arteriovenous malformation is described where a persistent primitive hypoglossal artery was the only route for embolization of the arteriovenous malformation.
Gupta, A.K.
Congenital malformations in 4224 children conceived after IVF
BACKGROUND: The percentage of children born after IVF will continue to increase due to demographic changes such as increasing maternal age and new developments in assisted reproduction techniques. IVF conceptions may carry an increased risk of congenital malformations. METHODS: We compared overall and specific congenital malformation rates calculated for IVF children (n 4224) and naturally conceived children (n 314 605),
S. Anthony; S. E. Buitendijk; C. A. Dorrepaal; K. Lindner; D. D. M. Braat; A. L. den Ouden
Neuropsychological Features of Dementia due to Dural Arteriovenous Malformation
We report two patients aged 65 and 61 years, who presented a subacute dementia with normal CT scan without contrast injection. Angiography showed a dural arteriovenous malformation. The patients improved dramatically with treatment of the malformation. Dementia was characterised by frontal dysfunction, emotional disorders, mnesic and praxic impairment. This neuropsychological pattern suggests a profile of global dementia in the field
Assia Serradj Jaillard; Blandine Peres; Marc Hommel
Childhood cerebrovascular diseases not associated with vascular malformations
Of 76 patients in the pediatric age group suffering from cerebrovascular diseases treated in the years 1970–1983, 26 patients (34%) did not harbor intracranial vascular malformations (aneurysms or arterovenous malformations). Two groups of patients were identified: (a) those suffering from a spontaneous intracranial hemorrhage (16 cases); (b) those suffering from an ischemic stroke (10 cases). Of those with spontaneous intracranial
C. Mazza; A. Pasqualin; P. Cavazzani; B. Dalla Bernardina; R. Pian
Anthelmintic induced congenital malformations in sheep embryos using netobimin
Benzimidazole compounds have teratogenic effects in domestic and experimental animals. In this study, 14 Manchega ewes were treated orally, under controlled conditions, with 20 mg netobimin (a prodrug of a benzimidazole compound) per\\/kg bodyweight on the 17th day of pregnancy. Congenital malformations and abortions affected 60 per cent of the lambs. The main malformations were skeletal and renal, but vascular
M. Navarro; C. Cristofol; A. Carretero; M. Arboix; J. Ruberte
Klippel-Feil syndrome and Dandy-Walker malformation.
The Klippel-Feil deformity is a complex of osseous and visceral anomalies, which include low hairline, platybasia, fused cervical vertebrae with a short neck, and deafness. Associated central nervous system abnormalities include occipital cephalocele, Chiari I malformation, syrinx, microcephaly, and hydrocephalus. Herein, we report a case with Klippel-Feil syndrome and Dandy-Walker malformation. PMID:22303802
Karaman, A; Kahveci, H
Chiari malformation type I: A new MRI classification
Thirty patients with Chiari I malformation were examined by MRI over 2-year period. All patients underwent MRI scan before and after surgical decompression of the posterior fossa. Images of the craniocervical junction confirmed tonsillar herniation in all cases and allowed the definition of two anatomically distinct types of Chiari malformation. Twenty-one of the 30 patients (70%) had concomitant syringomyelia and
Talal A. Amer; Omran M. El-Shmam
The ear and its malformations: strange beliefs and misconceptions
Objective. To explore the strange beliefs and misconceptions related to the ear and its malformations, and how these have changed from ancient times until today.Methods. Ancient documents, journal articles, and history books were studied to research ancient and current beliefs and misconceptions with regard to the ear and its malformations.Results. The ear has been the centre of various beliefs and
Irene E Gamatsi; Thomas P Nikolopoulos; Dimitra E Lioumi
Photocatalytic water splitting
NASA Astrophysics Data System (ADS)
New photocatalystic materials Ti-In oxy(nitride) and nanosized Ru-loaded strontium titanate doped with Rh (Ru/SrTiO3:Rh) have been synthesized. The textural and surface characteristic properties were studied by nitrogen BET analysis, diffuse reflectance UV-vis spectroscopy, X-ray photoelectron spectroscopy, transmission electron microscopy, scanning electron microscopy and powder XRD. The photocatalytic properties were enhanced by the binary metal oxides of titanium dioxide and indium oxide. The XRD patterns confirmed the oxygen exchange between two metal oxides during the synthesis. Moreover, the presence of titanium dioxide can help the stabilization of InN during hot NH3(g) treatment. On the other hand, the particle sizes of aerogel prepared Ru/SrTiO3:Rh varied from 12 to 25 nm depended on different Rh doping. A mixture of ethanol and toluene was found to be the best binary solvent for supercritical drying, which yielded a SrTiO3 sample with a surface area of 130 m2/g and an average crystallite size of 6 nm. Enhanced photocatalytic hydrogen production under UV-vis light irradiation was achieved by ammonolysis of intimately mixed titanium dioxide and indium oxide at high temperatures. Gas chromatography monitored steadily the formation of hydrogen when sacrificial (methanol or ethanol) were present. XRD patterns confirmed that the photocatalysts maintain crystalline integrity before and after water splitting experiments. Moreover, the presence of InN may be crucial for the increase of hydrogen production activities. These Ru/SrTiO3:Rh photocatalysts have been studied for photocatalytic hydrogen production under visible light. The band gap of the bulk SrTiO 3 (3.2 eV) does not allow response to visible light. However, after doping with rhodium and loaded with ruthenium, the modified strontium titanates can utilize light above 400 nm due to the formation of valence band or electron donor levels inside of the band gap. Moreover, the surface areas of these photocatalysts are much larger than conventional solid-state synthesized samples (1--2 m2/g), which yielded more Ru loading and reaction sites. The aerogel and hydrothermal synthesized samples required basic (alkaline) conditions for hydrogen generation facilitation compared with acidic conditions for conventional solid-state samples.
Kuo, Yenting
Metabolic characteristics of cortical malformations causing epilepsy
Purpose Cortical malformations (CMs) are increasingly recognized as the epileptogenic substrate in patients with medically refractory neocortical epilepsy (NE). The aim of this study was to test the hypotheses that: 1. CMs are metabolically heterogeneous. 2. The structurally normal appearing perilesional zone is characterized by similar metabolic abnormalities as the CM. Methods Magnetic resonance spectroscopic imaging (MRSI) in combination with tissue segmentation was performed on eight patients with NE and CMs and 19 age-matched controls. In controls, NAA, Cr, Cho, NAA/Cr and NAA/Cho of all voxels of a given lobe were expressed as a function of white matter content and thresholds for pathological values determined by calculating the 95% prediction intervals. These thresholds were used to identify metabolically abnormal voxels within the CM and in the perilesional zone. Results 30% of all voxels in the CMs were abnormal, most frequently because of decreases of NAA or increases of Cho. Abnormal voxels tended to form metabolically heterogeneous clusters interspersed in metabolically normal regions. Furthermore, 15% of all voxels in the perilesional zone were abnormal, the most frequent being decreases of NAA and Cr. Conclusion In CMs metabolically normal regions are interspersed with metabolically heterogeneous abnormal regions. Metabolic abnormalities in the perilesional zone share several characteristics of CMs and might therefore represent areas with microscopic malformations and/or intrinsic epileptogenicity.
Mueller, Susanne G.; Barakos, Jerome A.; Cashdollar, Nathan; Flenniken, Derek L.; Vermathen, Peter; Matson, Gerald B.; Weiner, Michael W.
Embryonic development and malformation of lymphatic vessels.
In the human, malformations of lymphatic vessels can be observed as lymphangiectasia, lymphangioma and lymphangiomatosis, with a prevalence of 1.2-2.8 per thousand. Their aetiology is unknown and a causal therapy does not exist. We investigated the origin of lymphatic endothelial cells (LECs) in avian and murine embryos, and compared the molecular profile of LECs from normal and malformed lymphatics of children. In avian embryos, Prox1+ lymphangioblasts are located in the confluence of the cranial and caudal cardinal veins, where the jugular lymph sac (JLS) forms. Cell lineage studies show that the JLS is of venous origin. In contrast, the lymphatics of the dermis are derived from mesenchymal lymphangioblasts located in the dermatomes, suggesting a dual origin of LECs in avian embryos. The same may hold true for murine embryos, where Lyve1+ LEC precursors are found in the cardinal veins, and in the mesenchyme. The mesenchymal cells express the pan-leukocyte marker CD45, indicating a cell type with lymphendothelial and leukocyte characteristics. In the human, such cells might give rise to Kaposi's sarcoma. Microarray analyses of LECs from lymphangiomas of children show a large number of regulated genes, such as VEGFR3. Our studies show that lymphvasculogenesis and lymphangiogenesis occur simultaneously in the embryo, and suggest a function for VEGFR3 in lymphangiomas. PMID:18300425
Wilting, Jörg; Buttler, Kerstin; Rössler, Jochen; Norgall, Susanne; Schweigerer, Lothar; Weich, Herbert A; Papoutsi, Maria
Sirenomelia and caudal malformations in two families.
We report on two families with co-occurrence of sirenomelia and caudal malformations. In the first family, the mother had undergone surgery for a short form of imperforate anus. Her first pregnancy was terminated because of bilateral renal agenesis with oligohydramnios. Her second pregnancy was interrupted because of sirenomelia. The second family was referred to us because of caudal malformation in their two children. The parents' spinal radiographs were normal. The first pregnancy resulted in a girl with imperforate anus, absence of S3-S5 and coccyx, abnormal pelvic floor, and an almost bifid anteriorly located bladder. The second pregnancy resulted in a baby girl with sirenomelia. No diabetes was present during the pregnancies in either of these two families. These families confirm the hypothesis that major genes are responsible for the embryogenesis of the caudal part of the embryo, with variable expression, as has been already described in sirenomelia mouse models (CYP26A1, BMP7/tsg). Molecular studies are underway in these families and in sporadic cases in our laboratory to explore the genetic basis of sirenomelia in humans. PMID:22522670
Gerard, Marion; Layet, Valérie; Costa, Teresa; Roumazeilles, Yves; Chenal, Pierre; Cailliez, Daniel; Gerard, Bénédicte
Congenital malformations, reproductive wastage and consanguineous mating.
A study was undertaken in Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, South India, to understand the relation between congenital developmental disorders and consanguinity and also reproductive wastage and consanguinity. Four hundred children with existing congenital developmental disorders were studied with regard to their consanguineous parentage and compared with 1,000 randomly selected patients attending the paediatric outpatient department. There was a significantly higher prevalence of consanguinity in the study group (p < 0.001) and greater frequency in rural areas. The common types of consanguineous marriages were between first cousins (50.6%) and uncle and niece (42.4%). Frequency of consanguinity was not significantly related to religion and caste. The mean coefficient of inbreeding was 0.056. Consanguinity had no significant effect on average pregnancy rate and reproductive wastage. The frequency of consanguinity was significantly higher especially with autosomal recessive disorders (p < 0.001), congenital heart diseases (p < 0.001), multiple malformations (p < 0.001), neurological malformations (p < 0.005), chromosomal disorders (p < 0.01), genitourinary disorders (p < 0.02) and mental retardation-developmental disorders (p < 0.02). These observations stress the need for communicating the deleterious effects of inbreeding to the public through regular health education. PMID:7684587
Jain, V K; Nalini, P; Chandra, R; Srinivasan, S
Torsion of the spermatic cord constitutes a surgical emergency. Morphologically and functionally, the fate of the compromised testis largely depends on the time elapsed between the acute episode and surgical intervention. Patients who had been treated for testicular torsion by our group from 1976 to 1989 were requested to return for outpatient evaluation. These patient were divided into two groups according to the time elapsed between the diagnosis and surgical intervention. We observed that surgical correction within 12 hours following presentation permitted testicular salvage. Testicular volume was generally preserved and remained normal or slightly diminished. However, when the time elapsed was over 12 hours, testicular atrophy was observed in 46% of the patients. We can conclude, therefore, that detorsion must be performed as soon as possible. Vaginalis testis eversion will generally achieve stable and lasting fixation. PMID:1586216
Malossini, G; Curti, P; Comunale, L; Bianchi, G; Baldassarre, R; Carluccio, G; Poletti, G
Mid-hindbrain malformations due to drugs taken during pregnancy.
Although genetic defects are the leading cause of central nervous system malformations including in the posterior fossa, specific malformative patterns should alert the clinician to consider rather a teratogenic etiology. We discuss the imaging features of 2 mid-hindbrain malformations consecutive to the intake of isotretinoin (Roaccuatane®; case 1) and misoprostol (Cytotec®; case 2) during pregnancy and review the pertinent literature. We correlate the morphological appearance of the mid-hindbrain malformation, as seen on high-resolution magnetic resonance imaging to possible drug-induced pathogenetical mechanisms. The recognition of characteristic imaging patterns enables diagnosis of and/or confirmation of suspected drug-induced hindbrain malformations. This has important medicolegal implications and also clinical significance to avoid unsuccessful and misleading genetic testing. PMID:23390117
Merlini, Laura; Fluss, Joël; Dhouib, Amira; Vargas, Maria I; Becker, Minerva
Multiple Venous Malformations with Phleboliths: Radiological-Pathological Correlation
Vascular malformations are congenital lesions that are present at birth and do not regress. However, they often present later in life. They are subdivided into two categories: (1) slow- or low-flow and (2) fast- or high-flow malformations. Low-flow malformations contain combinations of capillary, venous, and lymphatic components. Venous malformations can occur anywhere in the body, but are most frequently seen in the head and neck (40%). These lesions present in a variety of ways, from a vague blue patch to a soft blue mass, which may be single isolated or may occur in multiple areas. Treatment depends on the type of lesion, the location, degree of involvement, and the clinical symptoms. Here we are report the imaging and histopathologic findings in a patient with multiple venous malformations affecting the left side of the face and trunk.
Chava, Venkateswara Rao; Shankar, Ashwini Naveen; Vemanna, Naveen Shankar; Cholleti, Sudheer Kumar
Aggressive giant cystic lymphatic malformation in a newborn.
Lymphatic malformations are uncommon, benign and congenital malformations of the lymphatic system exhibiting lack of development of communication between the lymphatic and venous circulation. We report the unusual case of rapidly expanding giant lymphatic malformation of the torso, bilateral axillae and left upper extremity of a newborn. As the first-line treatment, aspiration and sclerotherapy with bleomycin were performed. The sclerotherapy failed to cause regression of the mass, and rapid expansion of the malformation necessitated surgery. Partial resection of the mass was performed. Clinical symptoms of respiratory distress resolved in the early postoperative period, and the patient became hemodynamically stable. However, intrathoracic invasion of the mass developed, leading to restriction of thoracic expansion, ending in death. In conclusion, surgical treatment of giant lymphatic malformations remains challenging. PMID:24292043
Cal??, Mert; Kona?, Ersoy; Takc?, ?ahin; Yurdakök, Murat; Tunçbilek, Gökhan
Entropy Splitting and Numerical Dissipation
NASA Technical Reports Server (NTRS)
A rigorous stability estimate for arbitrary order of accuracy of spatial central difference schemes for initial-boundary value problems of nonlinear symmetrizable systems of hyperbolic conservation laws was established recently by Olsson and Oliger (1994) and Olsson (1995) and was applied to the two-dimensional compressible Euler equations for a perfect gas by Gerritsen and Olsson (1996) and Gerritsen (1996). The basic building block in developing the stability estimate is a generalized energy approach based on a special splitting of the flux derivative via a convex entropy function and certain homogeneous properties. Due to some of the unique properties of the compressible Euler equations for a perfect gas, the splitting resulted in the sum of a conservative portion and a non-conservative portion of the flux derivative. hereafter referred to as the "Entropy Splitting." There are several potential desirable attributes and side benefits of the entropy splitting for the compressible Euler equations that were not fully explored in Gerritsen and Olsson. The paper has several objectives. The first is to investigate the choice of the arbitrary parameter that determines the amount of splitting and its dependence on the type of physics of current interest to computational fluid dynamics. The second is to investigate in what manner the splitting affects the nonlinear stability of the central schemes for long time integrations of unsteady flows such as in nonlinear aeroacoustics and turbulence dynamics. If numerical dissipation indeed is needed to stabilize the central scheme, can the splitting help minimize the numerical dissipation compared to its un-split cousin? Extensive numerical study on the vortex preservation capability of the splitting in conjunction with central schemes for long time integrations will be presented. The third is to study the effect of the non-conservative proportion of splitting in obtaining the correct shock location for high speed complex shock-turbulence interactions. The fourth is to determine if this method can be extended to other physical equations of state and other evolutionary equation sets. If numerical dissipation is needed, the Yee, Sandham, and Djomehri (1999) numerical dissipation is employed. The Yee et al. schemes fit in the Olsson and Oliger framework.
Yee, H. C.; Vinokur, M.; Djomehri, M. J.
Risk factors for a bad split during sagittal split osteotomy.
One of the operative complications during sagittal split osteotomy (SSO) in orthognatic surgery is a bad split, meaning an undesired fracture of the mandible during osteotomy. The aim of this study was to find out if there is a relation between the occurrence of bad splits during SSO and the presence of third molars, the patient's age, or the surgeon's experience. Clinical notes of 110 consecutive patients who had had a total of 220 SSOs using the Obwegeser/Dal Pont technique were evaluated and divided into three groups: 1 missing third molar (n=168); 2 retained or impacted third molar that was removed during the SSO (n=23); and 3 third molar left in place during SSO (n=29). There were a total of 12 (6%) bad splits. 9 (5%) in group 1, two (9%) in group 2, and one (3%) in group 3. There were no significant differences between groups 1-3, in particular the surgeon's qualification had no influence on the incidence. Older patients seemed more at risk of a bad split than younger ones. PMID:18063456
Kriwalsky, Marcus Stephan; Maurer, Peter; Veras, Rafael Block; Eckert, Alexander Walter; Schubert, Johannes
Living with Spinal Cord Injury
... assistants are trained in helping both adults and children with a broad range of physical, developmental, and behavioral issues in addition to spinal cord injury, such as arthritis, chronic pain, and mood disorders. Practitioners also help clients in ...
Depression and Spinal Cord Injury
... colleagues, with an educational grant from Pfizer Inc. University of Washington-operated SCI Clinics: Harborview Medical Center ... Spinal Cord Injury Clinic nurses: 206-744-5862 University of Washington Medical Center Rehabilitation Medicine Clinic 1959 ...
Associated malformations in patients with limb reduction deficiencies.
Infants with limb reduction deficiencies (LRD) often have other associated congenital malformations. The purpose of this investigation was to assess the prevalence and the types of associated malformations in a defined population. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for malformations was continued until 1 year of age. The associated malformations in infants with LRD were collected in all livebirths, stillbirths and terminations of pregnancy during 25 years in 347,810 consecutive births in the area covered by our population based registry of congenital malformations. Of the 271 LRD infants born during this period, representing a prevalence of 7.8 per 10,000, 57.9% had associated malformations. There were 17(6.3%) patients with chromosomal abnormalities including 10 trisomies 18, and 62 (22.9%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VA(C)TER(L) association. However numerous recognized dysmorphic conditions were registered including Poland, ectrodactyly-ectodermal dysplasia-clefting, oral-facial-digital, Klippel-Trenaunay-Weber, oculo-auriculo-vertebral defect spectrum, CHARGE, Townes-Brocks, Moebius, Du Pan, Smith-Lemli-Opitz, hypoglossia-hypodactyly, amniotic band, De Lange, Rubinstein-Taybi, Fanconi, radius aplasia- thrombocytopenia, Roberts, Holt-Oram, and fetal diethylstilbestrol. Seventy eight (28.8%) of the patients were multiply, non-syndromic, non chromosomal malformed infants (MCA). Malformations in the cardiac system, in the genital system, and in the central nervous system were the most common other malformations, 11.4%, 9.4%, and 7.7% of the associated malformations, respectively, followed by malformations in the renal system (4.8%), and in the digestive system (4.6%). Prenatal diagnosis was performed in 48.4% of dysmorphic syndromes with LRD. The overall prevalence of associated malformations, which was more than one in two infants, emphasizes the need for a thorough investigation of infants with LRD.A routine screening for other malformations especially cardiovascular system, urogenital system, central nervous system, and digestive system may be considered in infants and in fetuses with LRD. PMID:20670696
Stoll, Claude; Alembik, Yves; Dott, Beatrice; Roth, Marie-Paule
[The hand: embryology and main malformative mechanisms].
Upper limb bud appears in the cervical region of the embryo during the fifth week of development. It is made of epithelia and underlying mesenchyme. Diffusible growth factors, expressed by the apical ectodermal ridge, direct the proximal-distal growth. Other factors are expressed by zone of polarizing activity and ectoderm. They induce together anterior-posterior growth and dorsal-ventral polarity of the limb bud. The development of axial skeleton pattern is controlled by transcription factors from the HOX family, which are expressed in a stripe along the proximal and distal edges of the limb bud. Embryologic mechanisms of the main hand malformations are described, as well as their known genetic or mechanical aetiologies. PMID:18838286
Perrin, J; Geoffroy-Siraudin, C; Metzler-Guillemain, C
Malformations and the Manx Syndrome in Cats
Breeding experiments were conducted on cats with congenital taillessness, to test the dissemination pattern of taillessness in their offspring. Clinical evaluation, radiographic analysis of the vertebral column and histological studies of the digestive tract and central nervous tissue were conducted to determine the association of malformations of these systems in cats born with different degrees of taillessness noted in the rumpy and stumpy cats. The mode of transmission of the tailless (Manx) condition assumed to be through an autosomal dominant factor (M) was confirmed by this investigation. It is hypothesized that the problems associated with the tailless condition such as spina bifida, urinary and faecal incontinence and locomotor disturbances of the pelvic limbs may all be related to a disturbance affecting the development of the central nervous system in the early embryonic life. ImagesFigure 3.Figure 4.Figure 5.Figure 6.Figure 7.Figure 8.Figure 9.Figure 10.
DeForest, M. E.; Basrur, P. K.
Complications of Embolization for Cerebral Arteriovenous Malformations
Summary Embolization is recognized as an important adjunct in the treatment of cerebral arteriovenous malformations (AVMs). We reviewed our results of embolizations for AVMs and discussed procedure-related complications. Eleven complications were recorded in 68 consecutive patients (16%). Of these, four were technical problems including a glued catheter, inability to withdraw the catheter, vessel perforation by the microcatheter, and coil migration. Other complications included three cases of ischemic symptoms due to retrograde thrombosis, two cases of asymptomatic cerebral infarction, one case of asymptomatic small haemorrhage due to venous occlusion, and one case of post-embolization haemorrhage of unknown etiology. Our morbidity rate was 7%, mortality rate was 0%, and asymptomatic complication torospectively. Further improvements to endovascular techniques and devices are required.
Sugiu, K.; Tokunaga, K.; Sasahara, W.; Watanabe, K.; Nishida, A.; Ono, S.; Nishio, S.; Date, I.; Rufenacht, D. A.
Familial Dandy-Walker malformation and leukodystrophy.
We report the first familial cases with two different types of posterior fossa cystic malformation and a leukodystrophic-like aspect on cerebral magnetic resonance imaging (MRI). The girl and her brother had severe encephalopathy, marked hypotonia, absent deep tendon reflexes, macrocrania, gigantism, and dysmorphic face and extremities. The girl had generalized seizures. The boy had unilateral cataract and bilateral optic atrophy. The parents were first cousins, suggesting autosomal recessive transmission. MRI showed Dandy-Walker variant in the girl, with cerebellar vermis hypoplasia and expansion of the cisterna magna, which communicated with the fourth ventricle. Her brother had mega cisterna magna communicating with the fourth ventricle and a normal cerebellum. The 2 children had abnormally high signal in the supratentorial white matter. Visual and auditory evoked potentials revealed prolonged latencies. Motor and sensory conduction velocities were normal. Muscle and nerve biopsies were normal. Metabolic exploration demonstrated no abnormality. PMID:9258968
Humbertclaude, V T; Coubes, P A; Leboucq, N; Echenne, B B
Diagnosis and management of pulmonary arteriovenous malformations
Pulmonary arteriovenous malformation is a rare anomaly that presents in several different ways. It can present as an isolated finding, or more often in the context of hereditary haemorrhagic telangiectasia. It can also complicate palliative surgery such as the Glenn operation for complex congenital heart disease with single ventricle physiology. Its management includes transcatheter embolization, which is the preferred mode of therapy, surgery (including resection of the affected lobe, segment, or the fistula itself), or rarely, medical therapy. Complications of the disease itself and of various modes of treatment are relatively common, and patients require close surveillance for possible recurrence, or development of new fistulas. In cases related to the Glenn operation, redirection of hepatic venous flow or heart transplantation may cure the problem.
Papagiannis, J; Apostolopoulou, S; Sarris, GE; Rammos, S
Recent advances in the genetic etiology of brain malformations.
In the past few years, the increasing accessibility of next-generation sequencing technology has translated to a number of significant advances in our understanding of brain malformations. Genes causing brain malformations, previously intractable due to their complex presentation, rarity, sporadic occurrence, or molecular mechanism, are being identified at an unprecedented rate and are revealing important insights into central nervous system development. Recent discoveries highlight new associations of biological processes with human disease including the PI3K-AKT-mTOR pathway in brain overgrowth syndromes, the trafficking of cellular proteins in microcephaly-capillary malformation syndrome, and the role of the exosome in the etiology of pontocerebellar hypoplasia. Several other gene discoveries expand our understanding of the role of mitosis in the primary microcephaly syndromes and post-translational modification of dystroglycan in lissencephaly. Insights into polymicrogyria and heterotopias show us that these 2 malformations are complex in their etiology, while recent work in holoprosencephaly and Dandy-Walker malformation suggest that, at least in some instances, the development of these malformations requires "multiple-hits" in the sonic hedgehog pathway. The discovery of additional genes for primary microcephaly, pontocerebellar hypoplasia, and spinocerebellar ataxia continue to impress upon us the significant degree of genetic heterogeneity associated with many brain malformations. It is becoming increasingly evident that next-generation sequencing is emerging as a tool to facilitate rapid and cost-effective molecular diagnoses that will be translated into routine clinical care for these rare conditions in the near future. PMID:23793931
Dyment, David A; Sawyer, Sarah L; Chardon, Jodi Warman; Boycott, Kym M
A developmental and genetic classification for midbrain-hindbrain malformations
Advances in neuroimaging, developmental biology and molecular genetics have increased the understanding of developmental disorders affecting the midbrain and hindbrain, both as isolated anomalies and as part of larger malformation syndromes. However, the understanding of these malformations and their relationships with other malformations, within the central nervous system and in the rest of the body, remains limited. A new classification system is proposed, based wherever possible, upon embryology and genetics. Proposed categories include: (i) malformations secondary to early anteroposterior and dorsoventral patterning defects, or to misspecification of mid-hindbrain germinal zones; (ii) malformations associated with later generalized developmental disorders that significantly affect the brainstem and cerebellum (and have a pathogenesis that is at least partly understood); (iii) localized brain malformations that significantly affect the brain stem and cerebellum (pathogenesis partly or largely understood, includes local proliferation, cell specification, migration and axonal guidance); and (iv) combined hypoplasia and atrophy of putative prenatal onset degenerative disorders. Pertinent embryology is discussed and the classification is justified. This classification will prove useful for both physicians who diagnose and treat patients with these disorders and for clinical scientists who wish to understand better the perturbations of developmental processes that produce them. Importantly, both the classification and its framework remain flexible enough to be easily modified when new embryologic processes are described or new malformations discovered.
Millen, Kathleen J.; Dobyns, William B.
[A surgical case of tectal cavernous malformation presented by hydrocephalus].
We report a surgical case of tectal cavernous malformation presented by hydrocephalus. This 30-year-old man suffered from headache and nausea due to an obstructive hydrocephalus caused by a cavernous malformation in the tectum. Magnetic resonance (MR) images on admission showed a small lesion depicted as isointensity on the T1-weighted image, hyperintensity on the T2-weighted image, and accompanied with peripheral low-signal intensity rim, suggesting a tectal cavernous malformation. After admission, ventricular drainage was performed and the patient's symptoms improved immediately. He underwent a ventriculoperitoneal shunt ten days after the ventricular drainage. Postoperative CT scan showed an enlargement of the tectal mass with hemorrhagic change, but there was no deterioration in his neurological status. Cerebral angiography demonstrated no vascular stain or venous malformation. Microsurgical removal of the tectal mass was then performed via an occipital transtentorial approach. Histopathology proved a cavernous malformation and MR images at follow-up demonstrated total excision. Postoperatively, an upward gaze palsy appeared, but gradually improved within a month. Management strategy of brain stem cavernous malformation is controversial. Occasionally, brain stem hemorrhage may become critical. Therefore, we recommend aggressive surgical extirpation of symptomatic brain stem cavernous malformation, if it is accessible, if hemorrhage is present, and if the patient's condition permits it. PMID:11806112
Fujiwara, Satoshi; Ohta, Masahiro; Takeda, Tetsuji; Kohno, Kanehisa; Takechi, Akihiko; Kawada, Yasuchika; Shinohara, Naoki; Sasaki, Ushio
Maternal hypothyroidism in early pregnancy and infant structural congenital malformations.
Background. The question is debated on whether maternal hypothyroidism or use of thyroxin in early pregnancy affects the risk for infant congenital malformations. Objectives. To expand the previously published study on maternal thyroxin use in early pregnancy and the risk for congenital malformations. Methods. Data from the Swedish Medical Birth Register were used for the years 1996-2011 and infant malformations were identified from national health registers. Women with preexisting diabetes or reporting the use of thyreostatics, anticonvulsants, or antihypertensives were excluded from analysis. Risk estimates were made as odds ratios (ORs) or risk ratios (RRs) after adjustment for year of delivery, maternal age, parity, smoking, and body mass index. Results. Among 23?259 infants whose mothers in early pregnancy used thyroxin, 730 had a major malformation; among all 1?567?736 infants, 48012 had such malformations. The adjusted OR was 1.06 (95% CI 0.98-1.14). For anal atresia the RR was 1.85 (95% CI 1.00-1.85) and for choanal atresia 3.14 (95% CI 1.26-6.47). The risk of some other malformations was also increased but statistical significance was not reached. Conclusions. Treated maternal hypothyroidism may be a weak risk factor for infant congenital malformations but an association with a few rare conditions is possible. PMID:24744955
Källén, Bengt; Norstedt Wikner, Birgitta
Crossed reciprocal inhibition evoked by electrical stimulation of the lamprey spinal cord.
Activation of a motoneuron pool is often accompanied by inhibition of the antagonistic pool through a system of reciprocal inhibition between the two parts of the neuronal network controlling the antagonistic pools. In the present study, we describe the activity of such a system in the isolated spinal cord of the lamprey, when a tonic motor output is evoked by extracellular stimulation (0.5-1 s train of pulses, 20 Hz) of either end of the spinal cord. With two electrodes symmetrically positioned in relation to the midline, stimulation with either of them separately elicited prolonged (1-5 s) ipsilateral ventral root activity. Activity could be abolished by stronger, simultaneously applied, stimulation of the contralateral side of the cord, suggesting that reciprocal inhibition between hemisegments operates when a tonic motor output is generated. Simultaneous stimulation of both sides of the spinal cord with a single electrode with a large tip (300-400 microm in diameter), positioned over the anatomical midline, elicited inconsistent right-side, leftside, or bilateral ventral root responses. A minor displacement (10-20 microm) to the left or right from the midline resulted in activation of ipsilateral motoneurons, whereas the contralateral motoneurons were silent. These findings indicate that a small asymmetry in the excitatory drive to the left and right spinal hemisegments can be further amplified by reciprocal inhibition between the hemisegments. Longitudinal splitting of the spinal cord along the midline resulted in reduced reciprocal inhibition between the hemisegments separated by the lesion. The reduction was proportional to the extent of the split. The inhibition was abolished when the split reached nine segments in length. From these experiments, the longitudinal distribution of the commissural axons responsible for inhibition of contralateral motor output could be estimated. PMID:11037281
Fagerstedt, P; Zelenin, P V; Deliagina, T G; Orlovsky, G N; Grillner, S
Amplatzer vascular plugs in congenital cardiovascular malformations
Background: Amplatzer vascular plugs (AVPs) are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs). Aims: To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. Materials and Methods: All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. Results: A total of 39 AVPs were implanted in 31 patients. Thirteen (33%) were AVP type I and 23 (59%) were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM) (n = 7), aortopulmonary collaterals (n = 7), closure of a patent Blalock-Taussig shunt (n = 5), systemic AVM (n = 5), coronary AVM (n = 4), patent ductus arteriosus (PDA) (n = 3), pulmonary artery aneurysms (n = 3), and venovenous collaterals (n = 2). Deployment of the AVP was done predominantly via the 5 – 7F Judkin's right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. Conclusions: AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially useful in the closure of tubular structures with a high flow.
Barwad, Parag; Ramakrishnan, Sivasubramanian; Kothari, Shyam S; Saxena, Anita; Gupta, Saurabh K; Juneja, Rajnish; Gulati, Gurpreet Singh; Jagia, Priya; Sharma, Sanjiv
Outcome following hindbrain decompression of symptomatic Chiari malformations in children previously treated with myelomeningocele closure and shunts.
Between 1975 and 1989, 25 children treated with myelomeningocele closure and shunting for hydrocephalus at the Children's Hospital of Pittsburgh developed progressive lower brain-stem dysfunction from their Chiari malformation. Retrospective univariate and multivariate analyses of these cases were undertaken to assess the relationship between preoperative clinical factors and postoperative outcome. Since earlier reports have suggested that neonates with symptomatic Chiari malformations show a less favorable response than older children to craniocervical decompression, particular attention was directed at examining the effect of age on preoperative symptoms and postoperative outcome. Patients were subdivided by age into two groups, namely: 13 patients who became symptomatic before 2 months of age (neonatal group) and 12 older infants and children who developed initial symptoms between 6 months and 10 years of age. Once symptoms developed, patients in both groups deteriorated progressively until brain-stem decompression was performed. The mode of presentation and the rate and extent of neurological deterioration differed substantially in the two groups. Whereas the neonates typically showed rapid neurological deterioration and often manifested profound brain-stem dysfunction within a period of several days, the older patients experienced a more insidious symptom progression and rarely demonstrated the severe degree of impairment seen in the neonates. All patients underwent suboccipital craniectomy, cervical laminectomy, and dural decompression. A shunt from the fourth ventricle and/or syrinx to the subarachnoid space was placed in those with significant syringomyelia. Following surgery, 17 patients had complete or nearly complete resolution of all signs of brain-stem compression, three had mild to moderate residual deficits, and five showed no improvement. Outcome correlated closely with the preoperative neurological status. In particular, the presence of bilateral vocal cord paralysis was associated with a poor response to surgery (p < 0.001 on both univariate and multivariate analyses). Of the six patients (all neonates) who progressed to complete bilateral vocal cord paralysis before surgery, only one improved. In contrast, all patients with less profound but nonetheless severe deficits recovered function postoperatively. Although the neonates as a group had a poorer outcome than did the older patients (p = 0.02 on univariate analysis), this in large part reflected their more severe preoperative impairments; neonates who still had some preservation of vocal cord function before surgery subsequently did as well as the older patients. Accordingly, age did not prove to be an independent prognostic factor on multivariate analysis. Taken together, these results indicate that, in most patients with symptomatic Chiari II malformations (including neonates), neurological deficits are potentially reversible if hindbrain decompression is performed expeditiously. PMID:1432130
Pollack, I F; Pang, D; Albright, A L; Krieger, D
Contribution of Rare Copy Number Variants to Isolated Human Malformations
Background Congenital malformations are present in approximately 2–3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, genomic and epigenetic variants converge to deregulate developmental networks. Methodology/Principal Findings We selected samples from 95 fetuses with congenital malformations not ascribed to a specific syndrome (68 with isolated malformations, 27 with multiple malformations). Karyotyping and Multiplex Ligation-dependent Probe Amplification (MLPA) discarded recurrent genomic and cytogenetic rearrangements. DNA extracted from the affected tissue (46%) or from lung or liver (54%) was analyzed by molecular karyotyping. Validations and inheritance were obtained by MLPA. We identified 22 rare copy number variants (CNV) [>100 kb, either absent (n?=?7) or very uncommon (n?=?15, <1/2,000) in the control population] in 20/95 fetuses with congenital malformations (21%), including 11 deletions and 11 duplications. One of the 9 tested rearrangements was de novo while the remaining were inherited from a healthy parent. The highest frequency was observed in fetuses with heart hypoplasia (8/17, 62.5%), with two events previously related with the phenotype. Double events hitting candidate genes were detected in two samples with brain malformations. Globally, the burden of deletions was significantly higher in fetuses with malformations compared to controls. Conclusions/Significance Our data reveal a significant contribution of rare deletion-type CNV, mostly inherited but also de novo, to human congenital malformations, especially heart hypoplasia, and reinforce the hypothesis of a multifactorial etiology in most cases.
Serra-Juhe, Clara; Rodriguez-Santiago, Benjamin; Cusco, Ivon; Vendrell, Teresa; Camats, Nuria; Toran, Nuria; Perez-Jurado, Luis A.
Lattice splitting under intermittent flows
NASA Astrophysics Data System (ADS)
We study the splitting of regular square lattices subject to stochastic intermittent flows. Various flow patterns are produced by different groupings of the nodes, based on their random alternation between two possible states. The resulting flows on the lattices decrease with the number of groups according to a power law. By Monte Carlo simulations we reveal how the time span until the occurrence of a splitting depends on the flow patterns. Increasing the flow fluctuation frequency shortens this time span, which reaches a minimum before rising again due to inertia effects incorporated in the model. The size of the largest connected component after the splitting is rather independent of the flow fluctuation frequency but slightly decreases with the link capacities. Our findings carry important implications for real-world networks, such as electric power grids with a large share of renewable intermittent energy sources.
Schläpfer, Markus; Trantopoulos, Konstantinos
Maternal diabetes mellitus and congenital malformation. Survey of 205 cases.
Twenty-five out of 205 (i.e. 12%) babies born to diabetic mothers in the Birmingham Maternity Hospital in the period 1969-1974 were malformed as against 6% in a control group. The incidence was highest in the group where mothers were on insulin at the time of conception (17 out of 117, i.e. 15%). No correlation was observed between major malformation in this group and age of onset or duration of the diabetes, progressive vascular complications, maternal age, or parity. Cardiovascular malformations were over-represented.
Day, R E; Insley, J
Otosclerosis associated with type B-1 inner ear malformation
Summary Malformations of bony inner ear are rare anomalies occurring in approximately 20% of patients with congenital sensorineural hearing loss. Conductive hearing loss is usually associated with abnormalities of the external and middle ear. Recent reports of patients with lateral semicircular canal malformations indicate inner ear malformations to be associated with sensorineural or conductive hearing loss. Differential diagnosis of conductive hearing loss should include otosclerosis, isolated ossicular deformities, inner ear anomalies or a combination of these. In this report, a case is described with right vestibule-lateral semicircular canal dysplasia presenting at our centre with bilateral otosclerosis.
De Stefano, A; Dispenza, F; Aggarwal, N; Russo, A
[Giant venous malformation of the tongue: the value of Surgiflo].
Cavernous hemangiomas are rare congenital venous malformations having propensity for the head and neck. These venous malformations, especially the large and intraoral ones, may cause severe symptoms requiring aggressive treatment. Today, the main treatment is based on sclerotherapy, associated or no with surgery. We report on a patient presenting an enormous venous malformation of the face and tongue, which was treated successfully in our department by embolization, sclerotherapy and maxillo-facial surgery, with a special focus on Surgiflo in our technique. PMID:20399053
Slaba, S; Braidy, C; Sader, R B; Hokayem, N; Nassar, J
Biphasic water splitting by osmocene
The photochemical reactivity of osmocene in a biphasic water-organic solvent system has been investigated to probe its water splitting properties. The photoreduction of aqueous protons to hydrogen under anaerobic conditions induced by osmocene dissolved in 1,2-dichloroethane and the subsequent water splitting by the osmocenium metal-metal dimer formed during H2 production were studied by electrochemical methods, UV-visible spectrometry, gas chromatography, and nuclear magnetic resonance spectroscopy. Density functional theory computations were used to validate the reaction pathways.
Ge, Peiyu; Todorova, Tanya K.; Patir, Imren Hatay; Olaya, Astrid J.; Vrubel, Heron; Mendez, Manuel; Hu, Xile; Corminboeuf, Clemence; Girault, Hubert H.
Split ring containment attachment device
A containment attachment device 10 for operatively connecting a glovebag 200 to plastic sheeting 100 covering hazardous material. The device 10 includes an inner split ring member 20 connected on one end 22 to a middle ring member 30 wherein the free end 21 of the split ring member 20 is inserted through a slit 101 in the plastic sheeting 100 to captively engage a generally circular portion of the plastic sheeting 100. A collar potion 41 having an outer ring portion 42 is provided with fastening means 51 for securing the device 10 together wherein the glovebag 200 is operatively connected to the collar portion 41.
Sammel, Alfred G. (Pittsburgh, PA)
Mesenteric lymphatic malformation associated with acute appendicitis: a case report
Introduction Mesenteric lymphatic malformations are rare, benign tumors that are most commonly found in children. The presentation of these tumors is variable and may either be innocuous or life threatening. It has been suggested that mesenteric lymphatic malformations are congenital; however, there is evidence that their growth may be stimulated by local trauma. Case presentation We describe the first case of a mesenteric lymphatic malformation associated with acute appendicitis in a 13-year-old Caucasian boy. The patient is well six months after surgical excision of the tumor. Conclusion The reader should be aware that growth and/or development of mesenteric lymphatic malformations may be associated with trauma and other pro-inflammatory processes.
Malformation syndromes associated with disorders of sex development.
When embryological development of the internal and/or external genitalia is disrupted, the patient presents with a disorder of sex development (DSD) in the neonatal period or sometime later in life. Some of these patients have other, nongenital malformations, which makes their overall management more complex than if they just had a DSD. This Review summarises these malformation syndromes and discusses the recent research into their aetiology. The genetic causes of these malformation syndromes, when they are known, will also be described. Many specific genetic mutations are now known in malformation syndromes with a defect in hormonal function. By contrast, the genetic causes remain unknown in many nonhormonal morphological anomalies that affect the genitalia. PMID:24913517
Hutson, John M; Grover, Sonia R; O'Connell, Michele; Pennell, Samuel D
Macrocephaly-capillary malformation presenting with fetal arrhythmia.
Macrocephaly-capillary malformation (OMIM 602501) is a rare overgrowth and asymmetry syndrome. Cardiac arrhythmias were reported to occur in few patients. We present a case in which fetal arrhythmia was the presenting symptom of the syndrome. PMID:22329570
Kuint, Jacob; Globus, Omer; Ben Simon, Guy J; Greenberger, Shoshana
Limited PCB Antagonism of TCDD-Induced Malformations in Mice.
National Technical Information Service (NTIS)
Mice used to model induction of cleft palate and kidney malformations in offspring following maternal treatment with TCDD, were dosed on gestation day with hexachlorobiphenyl (HCB) and/or with tetrachlorodibenzo-p-dioxin (TCDD) to investigate the potentia...
R. E. Morrissey M. W. Harris J. J. Diliberto L. S. Birnbaum
Prenatal Diagnosis of Unusual Fetal Pial Arteriovenous Malformation
Summary Cerebral arteriovenous malformations (C-AVMs) are rarely diagnosed in utero. Most prenatal imaging of intracranial vascular malformations relates to Vein of Galen aneurysmal malformations (VGAMs) or Dural Arteriovenous Malformations (D-AVMs). We report a case of a fetal pial AVF with multiple fistulae and venous pouches, which appeared as an anechoic lesion on the prenatal ultrasound scan. The patient was asymptomatic with normal postnatal growth. No haemodynmaic disturbance was evident. Postnatal Computed tomography (CT), Magnetic Resonance Imaging (MRI) and catheter Digital Subtraction Angiography (DSA) confirmed the presence of a pial AVF. The angiographic findings and family history of nose bleeds suggests the diagnosis of Hereditary Hemorrhagic Telangiectasia. The largest AVF was embolized with tissue adhesive; the residual AVF subsequently removed by surgical excision.
Auyeung, K.M.; Laughlin, S.; TerBrugge, K.G.
Robotic-assisted anorectal pull-through for anorectal malformations
Background\\/purposeMany reports have addressed the feasibility and safety of using robotic surgery in children. To our knowledge, no published report has described the use of a surgical robot in the repair of anorectal malformations (ARMs).
Abdulrahman AlBassam; Abdulmonem Gado; Mohammed Saquib Mallick; Mohammed AlNaami; Weaam Al-shenawy
Spinal cord evoked potentials and edema in the pathophysiology of rat spinal cord injury
Summary The possibility that nitric oxide is somehow involved in the early bioelectrical disturbances following spinal cord injury in relation to the later pathophysiology of the spinal cord was examined in a rat model of spinal cord trauma. A focal trauma to the rat spinal cord was produced by an incision of the right dorsal horn of the T 10–11
T. Winkler; H. S. Sharma; E. Stĺlberg; R. D. Badgaiyan; P. Alm; J. Westman
Water splitting: Catalyst or spectator?
NASA Astrophysics Data System (ADS)
The deposition of cobalt-phosphate onto photocatalytic haematite improves its ability to split water and thus create clean hydrogen fuel. The source of this improvement is, however, not yet understood, and now two separate studies suggest different roles for the deposited cobalt-phosphate.
Gamelin, Daniel R.
Dualband Split Dielectric Resonator Antenna
A dualband dielectric resonator antenna (DRA) is designed by splitting a rectilinear dielectric resonator (DR) and carving notches off the DR. It is observed that notches engraved at different positions affect different modes. Removal of dielectric material from where the electric field is strong incurs a significant increase in resonant frequency. The abrupt change of normal electric field across the
Tze-Hsuan Chang; Jean-Fu Kiang
Pain Management Following Spinal Cord Injury
... Spinal Cord Injury InfoSheet 10 Level - Consumer Pain Management following Spinal Cord Injury coming from somewhere other ... is described as burning, cramping and constant. PAIN MANAGEMENT Pain management usually includes treatment with medications, modified ...
MRI characteristics and classification of peripheral vascular malformations and tumors
Vascular malformations and tumors comprise a broad spectrum of lesions that can cause significant morbidity and even mortality\\u000a in children and adults. Classification of vascular malformations into high flow and low flow has significant impact on management\\u000a since the main treatment of the former is transarterial embolization and the later percutaneous sclerotherapy. Magnetic resonance\\u000a imaging (MRI) is a noninvasive effective
Hicham Moukaddam; Jeffrey Pollak; Andrew H. Haims
Detachable balloon occlusion of vascular malformations in young patients.
Two patients (11 and 23 months old, respectively) had successful transcatheter occlusion of congenital arterio-venous or veno-venous malformations using detachable silicone balloons. Patient 1 with a cervicofacial hemangioma had selective embolization of the feeding artery with two balloons. Patient 2, with a veno-venous malformation between a systemic vein and pulmonary vein also had selective embolization of the lesion with two balloons. Follow-up examinations confirm a successful outcome in both cases. PMID:8894781
Sreeram, N; Miller, P; John, P
Posterior nutcracker phenomenon in patient with renal arteriovenous malformation.
A 31-year-old woman was referred to our hospital because of gross hematuria. Radiologic examinations with computed tomography and magnetic resonance imaging revealed renal arteriovenous malformation in the right kidney and an entrapped retroaortic left renal vein. Because the patient was free of hematuria, she refused additional treatment for economic reasons. Renal arteriovenous malformation associated with the posterior nutcracker phenomenon is a very rare condition. PMID:23031411
Qin, Jie; Zheng, Xiang-Yi; Jiang, Hai
Congenital malformations and perinatal morbidity associated with intestinal neuronal dysplasia
A close relation between different forms of dysganglionosis such as intestinal neuronal dysplasia (IND) type B and aganglionosis\\u000a has been established. No systematic analysis of other malformations and diseases accompanying IND has been made as yet. Congenital\\u000a malformations and perinatal morbidity were analyzed in 109 patients with IND seen at the Department of Pediatric Surgery in\\u000a Mainz from 1977 to
S. Berger; P. Ziebell; M. Kessler; S. Hofmann-von Kap-herr
Lymphatic malformations: A dilemma in diagnosis and management
Lymphatic malformations of the head and neck, also known as lymphangiomas or cystic hygromas, are a diverse group of lesions. Lymphangiomas represent benign hamartomatous tumors of lymphatic vessels with a marked predilection for the head, neck and oral cavity. These lesions, like most of the swellings occurring in the neck, frequently pose a dilemma in diagnosis and treatment. This is a case report of a lymphatic malformation which presented as a painless mass in the lower border of mandible.
Ramashankar; Prabhakar, Chandan; Shah, Nishit Kumar; Giraddi, Girish
Contemporary Themes: Congenital Malformations and the Problem of their Control*
The possibility of preventing or reducing the prevalence of human congenital malformations is discussed in the light of current knowledge about their aetiology. The original data presented are derived from an epidemiological study of all the infants (92,982) born in the three years 1964-6 to women resident in a defined area of South Wales and all the congenital malformations (3,242) discovered in those infants by the second anniversary of their birth.
Lowe, C. R.
Orbital venous-lymphatic malformations (lymphangiomas) mimicking cavernous hemangiomas
PURPOSE: To illustrate that orbital venous-lymphatic malformations (lymphangiomas) may rarely simulate cavernous hemangiomas.METHODS: Retrospective case review.RESULTS: Five patients were identified from a series of 85 patients with venous-lymphatic malformations. The age range was 21 to 69 years, and all cases presented with a history of slowly progressive or long-standing proptosis. Computerized tomography revealed relatively homogeneous intraconal masses that were well
Dinesh Selva; Diego Strianese; Giulio Bonavolonta; Jack Rootman
Macrocephaly-Cutis Marmorata Telangiectatica Congenita (Macrocephaly-Capillary Malformation)
This recently recognised entity (OMIM # 602501) (OMIM 2006) is characterised by the association of macrocephaly (megalencephaly),\\u000a capillary malformation of the cutis marmorata telangectatica congenita type, cavernous haemangioma, asymmetric growth pattern,\\u000a central nervous system malformations, and neurological abnormalities (Clayton-Smith et al. 1997, Gerritsen et al. 2000, Moore et al. 1997, Lapunzina et al. 2004). Despite extensive investigation of many of
Pablo Lapunzina; Jill Clayton-Smith
Umbilical cord blood mesenchymal stem cells
We studied umbilical cord blood mesenchymal stem cells and compared mesenchymal stem cells derived from umbilical cord blood,\\u000a adipose tissue, and skin. Umbilical cord blood mesenchymal stem cells were characterized morphologically, cytofluorometrically,\\u000a and by their differentiation potential. Umbilical cord blood mesenchymal stem cells did not differ from cells isolated from\\u000a adipose tissue and skin by the main parameters (by morphology,
R. A. Musina; E. S. Bekchanova; A. V. Belyavskii; T. S. Grinenko; G. T. Sukhikh
Isolated intramedullary spinal cord cysticercosis
We report a case of intradural, intramedullary, spinal cord neurocysticercosis at dorsal 10-11 (D10-11) level in a mentally retarded male. A 38-year-old, mentally retarded male presented with weakness and stiffness in both the lower limbs and waist since one year. Magnetic resonance imaging revealed a D10-D11 intradural space occupying lesion with cord compression. Intraoperatively, the tumor was grayish white, soft, cystic, and intramedullary with a well-defined plane with surrounding cord tissue. Gross examination revealed a cystic lesion of 1.5×1×0.8 cm, with a whitish nodule of 0.3 cm in diameter. The cyst wall was thin, shiny, and translucent. Microscopic examination revealed cysticercous cyst. Spinal neurocysticercosis should be considered in differential diagnosis of spinal mass lesion in patients residing in endemic area such as India.
Agale, Shubhangi V.; Bhavsar, Shweta; Choudhury, Barnik; Manohar, Vidhya
Congenital stridor in the context of Chiari malformation type II: the etiological role of vernix caseosa granulomatous meningitis.
The authors describe the case of a late preterm infant girl who presented prenatally with a low lumbar neural tube defect and features of Chiari malformation type II (CM-II). At birth, she exhibited stridor and underwent surgical repair of a lumbosacral myelomeningocele on Day 2 of life. The prognosis was deemed to be poor, and hence a "Chiari decompression" procedure was not undertaken. The patient was subsequently extubated and died on Day 10. Postmortem findings included a rarely described but characteristic granulomatous meningitic reaction to vernix caseosa, which presumably entered the subarachnoid space and spinal cord syrinx antenatally via the open neural tube defect. The significance of congenital stridor in the context of CM-II and in particular the role of vernix caseosa granulomatous meningitis are examined. The antenatal repair of myelomeningoceles, as championed by some, may prevent this ominous meningitic complication. PMID:21961543
Stritzke, Amelie I; Dunham, Christopher P; Smyth, John A; Steinbok, Paul
The split algebras and noncompact Hopf maps
We develop a noncompact version of the Hopf maps based on the split algebras. The split algebras consist of three species: split-complex numbers, split quaternions, and split octonions. They correspond to three noncompact Hopf maps that represent topological maps between hyperboloids in different dimensions with hyperboloid bundle. We realize such noncompact Hopf maps in two ways: one is to utilize the split-imaginary unit, and the other is to utilize the ordinary imaginary unit. Topological structures of the hyperboloid bundles are explored, and the canonical connections are naturally regarded as noncompact gauge field of monopoles.
Hasebe, Kazuki [Department of General Education, Kagawa National College of Technology, Takuma-cho, Mitoyo city, Kagawa 769-1192 (Japan)
Limb malformations and abnormal sex hormone concentrations in frogs.
Declines in amphibian populations, and amphibians with gross malformations, have prompted concern regarding the biological status of many anuran species. A survey of bullfrogs, Rana catesbeiana, and green frogs, Rana clamitans, conducted in central and southern New Hampshire showed malformed frogs at 81% of the sites sampled (13 of 16 sites). Brain gonadotropin-releasing hormone (GnRH) and the synthesis of androgens and estradiol, hormones essential to reproductive processes, were measured from limb-malformed and normal (no limb malformation) frogs. Normal frogs had significantly higher concentrations (nearly 3-fold) of in vitro produced androgens and of brain GnRH than malformed frogs. Because most malformations are thought to occur during development, we propose that environmental factors or endocrine-disrupting chemicals that may cause developmental abnormalities also act during early development to ultimately cause abnormally reduced GnRH and androgen production in adult frogs. The consequences of reduced GnRH and androgens on anuran reproductive behavior and population dynamics are unknown but certainly may be profound and warrant further research.
Sower, S A; Reed, K L; Babbitt, K J
Sleep Spindle Alterations in Patients with Malformations of Cortical Development
Malformations of cortical development are disorders of altered brain anatomy and architecture that arise from abnormalities in the usual processes of cerebral cortical development. Although they often lead to epilepsy, cognitive delay, and motor impairment, little is known about their effect on sleep. Since malformations may anatomically or functionally disrupt the cerebral circuits that mediate sleep spindles, we hypothesized that these disorders would be associated with abnormal spindle characteristics. We analyzed the density, maximum frequency, laterality and distribution of sleep spindles seen in routine and long-term electroencephalographic recordings performed in ten brain malformation subjects and ten matched controls. There were no significant differences in spindle density or maximum frequency between the two groups, but malformation subjects had a significantly lower proportion of bilateral spindles and a significantly higher proportion of anterior and diffuse spindles compared to controls. In addition, unilateral malformations appeared to be associated with a skewing of unilateral spindles toward the contralateral side. Our findings suggest that brain malformations disrupt the thalamocortical circuits responsible for sleep spindle generation, and support the need for further studies on the relationships between cortical maldevelopment and sleep.
Selvitelli, Megan F.; Krishnamurthy, Kaarkuzhali B.; Herzog, Andrew G.; Schomer, Donald L.; Chang, Bernard S.
Neonatal spinal cord injury can occur in utero, as well as after either a difficult delivery or a nontraumatic delivery. Spinal cord injury can also be related to invasive nursery procedures or underlying neonatal pathology. Early clinical signs of spinal cord injury that has occurred in utero or at delivery includes severe respiratory compromise and profound hypotonia. Knowledge of risk
Complications caused by cerebral arteriovenous malformation embolization.
We describe the complications of endovascular embolization for cerebral arteriovenous malformations (AVMs). 164 consecutive patients with AVMs treated by endovascular embolization between 1998 and 2003 were retrospectively reviewed. Over a five-year period, 292 embolization procedures were performed in 164 patients with embolization as the primary treatment modality (n=126) or as an adjunct to surgery (n =14) or radiosurgery (n=24). There were a total of 15 (9.1% per patient, 5.1% per procedure) complications in this series, of which 14 were clinically significant (8.5% of patients, 4.8% per procedure), and one was a technical complication (0.6% of patients, 0.3% per procedure). Excellent or good outcomes (Glasgow Outcome Scale ? 4) were observed in 136 (82.9%) patients at discharge. Neurological deficits (Glasgow Outcome Scale 1-4) as a direct result of embolization were 7.3% at discharge. In a single-center, retrospective, nonrandomized study, 82.9% of patients had excellent or good outcomes at discharge after AVM embolization, with a complication rate of 5.1%. PMID:24029089
Sun, Y; Lv, X; Li, Y; Li, A
Stereotactic linac radiosurgery for arteriovenous malformations.
Stereotactic linear accelerator (linac) radiosurgery has been in operation in the West Midlands since 1987, the first of its kind in the United Kingdom. Forty two patients with high-flow cerebral arteriovenous malformations have been treated, 26 of whom have been followed up. Angiography one year after treatment showed that five lesions were obliterated, 11 were reduced in size and/or flow rate and 10 were unchanged. Overall results show that nine out of 10 patients reviewed at 24 months had total obliteration. Three patients had complications; one has fully recovered, one died of an unrelated cause at 36 months and the other died from recurrent haemorrhage at nine months. Two patients had recurrent non-fatal haemorrhage within 24 months of treatment; both recovered without further deficit. All patients are fit to work but eight are unemployed. Although the follow up period is short, the early results indicate a success rate similar to those published by others using linac radiosurgery. Images
Kenny, B G; Hitchcock, E R; Kitchen, G; Dalton, A E; Yates, D A; Chavda, S V
Developmental biology and genetics of dental malformations.
The synthesis of tooth development biology with human studies focusing on inherited conditions that specifically interfere with tooth development is improving our understanding of normal and pathological tooth formation. The type of inherited dental malformations observed in a given kindred relate to when, during odontogenesis, the defective gene is critically expressed. Information about the protein encoded by the defective gene and the resulting dental phenotype helps us understand the major processes underway at different stages during tooth development. Genes affecting early tooth development (PAX9, MSX1, and AXIN2) are associated with familial tooth agenesis or oligodontia. Genes expressed by odontoblasts (COL1A1, COL1A2, and DSPP), and ameloblasts (AMELX, ENAM, MMP20, and KLK4) during the crown formation stage, are associated with dentinogenesis imperfecta, dentin dysplasia, and amelogenesis imperfecta. Late genes expressed during root formation (ALPL and DLX3) are associated with cementum agenesis (hypophosphatasia) and taurodontism. Understanding the relationships between normal tooth development and the dental pathologies associated with inherited diseases improves our ability to diagnose and treat patients suffering the manifestations of inherited dental disorders. PMID:17552940
Hu, Jan C-C; Simmer, James P
Congenital Pulmonary Airway Malformation (Congenital Cystic Adenomatoid Malformation) with Multiple Extrapulmonary Anomalies: Autopsy Report of a Fetus at 19 Weeks of Gestation
Congenital pulmonary airway malformation, or congenital cystic adenomatoid malformation, is postulated to be a disorder of pulmonary airway morphogenesis and encompasses 5 different types with distinct levels or stages of tracheobronchial development. We present a unique case of type 2 congenital pulmonary airway malformation with a previously undocumented combination of multiple extrapulmonary anomalies, featuring ipsilateral multicystic renal dysgenesis, contralateral renal
Truc T. Pham; Kurt Benirschke; Eliezer Masliah; J. Thomas Stocker; Eunhee S. Yi
A chick embryo with a yet unclassified type of cephalothoracopagus malformation and a hypothesis for explaining its genesis.
Cephalothoracopagus embryos are conjoined twins, who share parts of their heads, necks and bodies. Our study aims at presenting a detailed morphological analysis of a cephalothoracopagus chick embryo of developmental stage 31. Because none of the existing theories can explain the genesis of the phenotype of this embryo, we also suggest a hypothesis, which explains it. Beside the cephalothoracopagus embryo, we investigated five control embryos. With the aid of the high-resolution episcopic microscopy (HREM) technique, we created digital volume data and three-dimensional (3D) computer models of the organs and arteries of the embryos. We used the 3D models for topological analysis and for measuring the diameters of the great intrathoracic arteries. The malformed embryo showed two body backs, each containing a notochord, spinal cord and dorsal aorta. The body backs continued into separated lower bodies. The embryo had a single, four-chambered heart, single respiratory tract and single upper alimentary tract. The topology of the pharyngeal arch arteries was normal, and the diameters of these arteries were similar to that of the control embryos. We classified the embryo we investigated as a yet unknown malformation and suggest a hypothesis explaining its genesis. PMID:22971166
Maurer, B; Geyer, S H; Weninger, W J
On the rate at which comets split
NASA Technical Reports Server (NTRS)
We use time-resolved charge-coupled device (CCD) images to assess the frequency of splitting of comets. When blinked on a computer, the CCD images provide relatively high and uniform sensitivity to comoving companions. We find that 3 comets are split in a sample of 49, and estimate that the cometary splitting rate is S approximately 0.01 per year per comet or larger. This large rate suggests that splitting may be an important destructive process for the cometary nuclei.
Chen, Jun; Jewitt, David
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes. RASA1 was screened in 261 index patients with: CM-AVM (n = 100), common CM(s) (port-wine stain; n = 100), Sturge-Weber syndrome (n = 37), or isolated AVM(s) (n = 24). Fifty-eight distinct RASA1 mutations (43 novel) were identified in 68 index patients with CM-AVM and none in patients with other phenotypes. A novel clinical feature was identified: cutaneous zones of numerous small white pale halos with a central red spot. An additional question addressed in this study was the "second-hit" hypothesis as a pathophysiological mechanism for CM-AVM. One tissue from a patient with a germline RASA1 mutation was available. The analysis of the tissue showed loss of the wild-type RASA1 allele. In conclusion, mutations in RASA1 underscore the specific CM-AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs. The high incidence of fast-flow lesions warrants careful clinical and radiologic examination, and regular follow-up. PMID:24038909
Revencu, Nicole; Boon, Laurence M; Mendola, Antonella; Cordisco, Maria Rosa; Dubois, Josée; Clapuyt, Philippe; Hammer, Frank; Amor, David J; Irvine, Alan D; Baselga, Eulalia; Dompmartin, Anne; Syed, Samira; Martin-Santiago, Ana; Ades, Lesley; Collins, Felicity; Smith, Janine; Sandaradura, Sarah; Barrio, Victoria R; Burrows, Patricia E; Blei, Francine; Cozzolino, Mariarosaria; Brunetti-Pierri, Nicola; Vicente, Asuncion; Abramowicz, Marc; Désir, Julie; Vilain, Catheline; Chung, Wendy K; Wilson, Ashley; Gardiner, Carol A; Dwight, Yim; Lord, David J E; Fishman, Leona; Cytrynbaum, Cheryl; Chamlin, Sarah; Ghali, Fred; Gilaberte, Yolanda; Joss, Shelagh; Boente, Maria Del C; Léauté-Labrčze, Christine; Delrue, Marie-Ange; Bayliss, Susan; Martorell, Loreto; González-Enseńat, Maria-Antonia; Mazereeuw-Hautier, Juliette; O'Donnell, Brid; Bessis, Didier; Pyeritz, Reed E; Salhi, Aicha; Tan, Oon T; Wargon, Orli; Mulliken, John B; Vikkula, Miikka
Brane splitting via quantum tunneling
We study the two-centred AdS7×S4 solution of eleven-dimensional supergravity using the Euclidean path-integral approach, and find that it can be interpreted as an instanton, signalling the splitting of the throat of the M5-brane. The instanton is interpreted as indicating a coherent superposition of the quantum states corresponding to classically distinct solutions. This is a surprising result since it leads, through
Selena Ng; Malcolm Perry
The National Spinal Cord Injury Database has been in existence since 1973 and captures data from SCI cases in the United States. Since its inception, 24 federally funded Model SCI Care Systems have contributed data to the National SCI Database. Statistics are derived from this da...
Osteoporosis after spinal cord injury
Osteoporosis is a known consequence of spinal cord injury (SCI) and occurs in almost every SCI patient. It manifests itself as an increase in the incidence of lower extremity fractures. The pattern of bone loss seen in SCI patients is different from that usually encountered with endocrine disorders and disuse osteoporosis. In general, there is no demineralization in supralesional areas
Sheng-Dan Jiang; Li-Yang Dai; Lei-Sheng Jiang
Pain following spinal cord injury
Chronic pain is an important problem following spinal cord injury (SCI) and is a major impediment to effective rehabilitation. The reported prevalence of chronic SCI pain is variable but averages 65% with around one third of these people rating their pain as severe. The mechanisms responsible for the presence of pain are poorly understood. However, evidence from clinical observations and
PJ Siddall; JD Loeser
Split torque transmission load sharing
NASA Technical Reports Server (NTRS)
Split torque transmissions are attractive alternatives to conventional planetary designs for helicopter transmissions. The split torque designs can offer lighter weight and fewer parts but have not been used extensively for lack of experience, especially with obtaining proper load sharing. Two split torque designs that use different load sharing methods have been studied. Precise indexing and alignment of the geartrain to produce acceptable load sharing has been demonstrated. An elastomeric torque splitter that has large torsional compliance and damping produces even better load sharing while reducing dynamic transmission error and noise. However, the elastomeric torque splitter as now configured is not capable over the full range of operating conditions of a fielded system. A thrust balancing load sharing device was evaluated. Friction forces that oppose the motion of the balance mechanism are significant. A static analysis suggests increasing the helix angle of the input pinion of the thrust balancing design. Also, dynamic analysis of this design predicts good load sharing and significant torsional response to accumulative pitch errors of the gears.
Krantz, T. L.; Rashidi, M.; Kish, J. G.
Code of Federal Regulations, 2010 CFR
...2009-01-01 2009-01-01 false Split shell. 51.2002 Section 51.2002 Agriculture...States Standards for Grades of Filberts in the Shell 1 Definitions § 51.2002 Split shell. Split shell means a shell having...
Code of Federal Regulations, 2010 CFR
...2010-01-01 2010-01-01 false Split shell. 51.2002 Section 51.2002 Agriculture...States Standards for Grades of Filberts in the Shell 1 Definitions § 51.2002 Split shell. Split shell means a shell having...
ABSTRACT Purpose To review the association of autism spectrum disorder (ASD) in individuals manifesting thalidomide embryopathy and Möbius sequence and compare them with three new studies in which ASD was also associated with ocular and systemic malformations: (1) a Swedish study of individuals with CHARGE association (Coloboma, Heart, choanal Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian Möbius syndrome (sequence) study. Methods In the Swedish CHARGE study, 31 patients met the inclusion criteria (3+ or 4 of the common characteristics of the CHARGE syndrome). The same team of investigators also evaluated 20 Swedish patients with Goldenhar syndrome. In the Brazilian Möbius study, 28 children with a diagnosis of Möbius sequence were studied; some children had a history of exposure during their mother's pregnancy to the abortifacient drug misoprostol in an unsuccessful abortion attempt Results In the CHARGE study, five patients had the more severe autism disorder and five had autistic-like condition. In the Goldenhar study, two had autism disorder and one had autistic-like condition. In the Brazilian Möbius study, the systemic findings of the misoprostol-exposed and misoprostol-unexposed patients were almost undistinguishable, and ASD was present in both groups (autism disorder in five and autistic-like condition in three). Conclusion Autism spectrum disorder has been reported in two conditions with known early pregnancy exposure to the teratogenic agents thalidomide and misoprostol. In the Brazilian Möbius study, autism also occurred in both the misoprostol-exposed and misoprostol-unexposed groups. Autism also was present in patients with both CHARGE association and Goldenhar syndrome.
Miller, Marilyn T; Stromland, Kerstin; Ventura, Liana; Johansson, Maria; Bandim, Jose M; Gillberg, Christopher
Epidemiology and natural history of arteriovenous malformations.
The epidemiology and natural history of cerebral arteriovenous malformations (AVMs) remains incompletely elucidated. Several factors are responsible. With regard to the incidence and prevalence of AVMs, the results of prior studies have suffered because of the retrospective design, the use of nonspecific ICD-9 codes, and a focus on small genetically isolated populations. Recent data from the New York Islands AVM Hemorrhage Study, an ongoing, prospective, population-based survey determining the incidence of AVM-related hemorrhage and the associated rates of morbidity and mortality in a zip code-defined population of 10 million people, suggests that the AVM detection rate is 1.21/100,000 person-years (95% confidence interval [CI] 1.02-1.42) and the incidence of AVM-hemorrhage is 0.42/100,000 person-years (95% CI 0.32-0.55). Contemporaneous data from the Northern Manhattan Stroke Study, a prospective, longitudinal population-based study of nearly 150,000 patients in which the focus is to define the incidence of stroke, suggest the crude incidence for first-ever AVM-related hemorrhage to be 0.55/100,000 person-years (95% CI 0.11-1.61). Efforts are ongoing to study the natural history of both ruptured and unruptured AVMs in these datasets to examine the relevance of prior studies of patients selected for conservative follow up in Finland. In addition, data are being gathered to determine whether risk factors for future hemorrhage, which have previously been established in small case series, are valid when applied to whole populations. Together, these data should help inform therapeutic decisionmaking. PMID:16466233
Stapf, C; Mohr, J P; Pile-Spellman, J; Solomon, R A; Sacco, R L; Connolly, E S
Defining anural malformations in the context of a developmental problem
This paper summarizes terminology and general concepts involved in animal development for the purpose of providing background for the study and understanding of frog malformations. The results of our radiographic investigation of rear limb malformations in Rana pipiens provide evidence that frog malformations are the product of early developmental errors. Although bacteria, parasites and viruses were identified in these metamorphosed frogs, the relevant window to look for the teratogenic effect of these agents is in the early tadpole stage during limb development. As a result, our microbiological findings must be regarded as inconclusive relative to determining their contribution to malformations because we conducted our examinations on metamorphosed frogs not tadpoles. Future studies need to look at teratogenic agents (chemical, microbial, physical or mechanical) that are present in the embryo, tadpole, and their environments at the stages of development that are relevant for the malformation type. The impact of these teratogenic agents then needs to be assessed in appropriate animal models using studies that are designed to mimic field conditions. The results of these laboratory tests should then be analyzed in such a way that will allow comparison with the findings in the wild-caught tadpoles and frogs.
Meteyer, C. U.; Cole, R. A.; Converse, K. A.; Docherty, D. E.; Wolcott, M.; Helgen, J. C.; Levey, R.; Eaton-Poole, L.; Burkhart, J. G.
Local Model of Arteriovenous Malformation of the Human Brain
NASA Astrophysics Data System (ADS)
Vascular diseases of the human brain are one of the reasons of deaths and people's incapacitation not only in Russia, but also in the world. The danger of an arteriovenous malformation (AVM) is in premature rupture of pathological vessels of an AVM which may cause haemorrhage. Long-term prognosis without surgical treatment is unfavorable. The reduced impact method of AVM treatment is embolization of a malformation which often results in complete obliteration of an AVM. Pre-surgical mathematical modeling of an arteriovenous malformation can help surgeons with an optimal sequence of the operation. During investigations, the simple mathematical model of arteriovenous malformation is developed and calculated, and stationary and non-stationary processes of its embolization are considered. Various sequences of embolization of a malformation are also considered. Calculations were done with approximate steady flow on the basis of balanced equations derived from conservation laws. Depending on pressure difference, a fistula-type AVM should be embolized at first, and then small racemose AVMs are embolized. Obtained results are in good correspondence with neurosurgical AVM practice.
Nadezhda Telegina, Ms; Aleksandr Chupakhin, Mr; Aleksandr Cherevko, Mr
Multiple vascular malformations in head and neck - Rare case report
Multiple venous malformations (VMs) pose some of the most difficult challenges in the practice of medicine today. Clinical manifestations of these lesions are extremely protean. Because of the rarity of these lesions, experience in their diagnosis and management by most clinicians is limited. This augments the enormity of the problem and can lead to misdiagnoses, inadequate treatment, high complication rates and poor patient outcomes. Because these lesions can recur, removal of the nidus is the main priority. Vascular malformations are best treated in medical centers where patients with these maladies are seen regularly and the team approach is utilized. The presence of intralesional nerve in arteriovenous malformation (AVM) and sometimes in VMs, as reported in this study, provides an additional diagnostic criterion that is simple and reliable and can be readily used to differentiate VMs from hemangiomas.
Lakkasetty, Yogesh T; Malik, Sangeeta; Shetty, Akshay; Nakhaei, Kourosh
Venous malformations: Sclerotherapy with a mixture of ethanol and lipiodol
Purpose. To evaluate the usefulness of a mixture of absolute ethanol and lipiodol in the management of venous malformations. Methods. Percutaneous sclerotherapy was performed with a mixture of absolute ethanol and lipiodol (9:1) in 17 patients with venous malformations, once in 12 patients, twice in 5. The therapeutic efficacy was evaluated by pain reduction. Conventional radiographs (n=15) and posttreatment magnetic resonance imaging (n=5) were obtained for the follow-up evaluation. Results. Sclerotherapy was successful in all but two patients. The therapeutic effect was excellent in two patients, good in seven, fair in five, and poor in one. Radiopacity of lipiodol was beneficial for monitoring the procedure rather than for follow-up evaluations. Areas with low signal-intensity strands were increased on T2-weighted images obtained after the sclerotherapy. Conclusion. Sclerotherapy with a mixture of ethanol and lipiodol is effective in treating venous malformations.
Suh, Jin-Suck [Yonsei University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Shin, Kyoo-Ho [Yonsei University, College of Medicine, Department of Orthopedic Surgery (Korea, Republic of); Na, Jae-Bum [Kyungsang University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Won, Jong-Yun [Yonsei University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Hahn, Soo-Bong [Yonsei University, College of Medicine, Department of Orthopedic Surgery (Korea, Republic of)
Cranial malformations in related white lions (Panthera leo krugeri).
White lions (Panthera leo krugeri) have never been common in the wild, and at present, the greatest population is kept in zoos where they are bred for biological and biodiversity conservation. During the years 2003 to 2008 in a zoological garden in northern Italy, 19 white lions were born to the same parents, who were in turn paternally consanguineous. Out of the 19 lions, 4 (21%) were stillborn, 13 (69%) died within 1 month, and 1 (5%) was euthanatized after 6 months because of difficulty with prehension of food. Six lions (32%) showed malformations involving the head (jaw, tongue, throat, teeth, and cranial bones). One lion (5%) still alive at 30 months revealed an Arnold-Chiari malformation upon submission for neurological evaluation of postural and gait abnormalities. Paternal consanguinity of the parents, along with inbreeding among white lions in general, could account for the high incidence of congenital malformations of the head in this pride of white lions. PMID:20826844
Scaglione, F E; Schröder, C; Degiorgi, G; Zeira, O; Bollo, E
Sudden death from ruptured choroid plexus arteriovenous malformation.
Brain vascular malformations are recognized as having potential to produce hemorrhage, but leading to sudden death in children is uncommon. Arteriovenous malformations may be situated in any region of the brain, but very rarely, they can be restricted to the choroid plexus. We report here a rare case of sudden death in a child, caused by a ruptured vascular malformation with an unusual location, which was not identified grossly but only on histological examination. The size and the location of the lesion, as well as the age of our patient, were contributing factors of the massive bleeding. Autopsy remains an important tool because it provides valuable information about the etiology of such bleedings, improves knowledge about these lesions, and enhances epidemiologic data. PMID:24781402
Cioca, Andreea; Gheban, Dan; Perju-Dumbrava, Dan; Chiroban, Ovidiu; Mera, Mihaela
Erythropoietin in spinal cord injury
Spinal cord injury (SCI) is a devastating condition for individual patients and costly for health care systems requiring significant long-term expenditures. Cytokine erythropoietin (EPO) is a glycoprotein mediating cytoprotection in a variety of tissues, including spinal cord, through activation of multiple signaling pathways. It has been reported that EPO exerts its beneficial effects by apoptosis blockage, reduction of inflammation, and restoration of vascular integrity. Neuronal regeneration has been also suggested. In the present review, the pathophysiology of SCI and the properties of endogenous or exogenously administered EPO are briefly described. Moreover, an attempt to present the current traumatic, ischemic and inflammatory animal models that mimic SCI is made. Currently, a clearly effective pharmacological treatment is lacking. It is highlighted that administration of EPO or other recently generated EPO analogues such as asialo-EPO and carbamylated-EPO demonstrate exceptional preclinical characteristics, rendering the evaluation of these tissue-protective agents imperative in human clinical trials.
Birbilis, Theodossios A.
Spontaneous transdural spinal cord herniation.
A 42-year-old man with a history of benign incidental dorsal trauma 5 years earlier presented with progressive weakness of the right leg for 2 years. Clinical examination revealed decreased left-sided pain, temperature, and light touch sensation below the level of T2, right leg weakness, normal proprioception, and increased deep tendon reflexes in the right leg, in absence of bladder dysfunction. Spinal MRI showed herniation of the ventral spinal cord to the left at level T1 (figure). A diagnosis of transdural spinal cord herniation (TSCH) was made. TSCH is a rare cause of progressive myelopathy. TSCH is reported after spinal trauma or herniated disc surgery.(1) Spontaneous cases are also described.(2) Patients usually present with a Brown-Séquard-like syndrome or progressive paraparesis. PMID:24711533
Castelnovo, Giovanni; Hladky, Jean Pierre; Renard, Dimitri
A number of species of anuran amphibians from different regions across North America have recently exhibited an increased occurrence of, predominantly, hind limb malformations. Research concerning factors potentially responsible for these malformations has focused extensively on ...
Diagnosis and management of extensive vascular malformations of the lower limb: part I. Clinical diagnosis.
There is significant confusion in the literature when describing vascular anomalies, and vascular malformations are often misnamed or incorrectly classified. Part I of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limbs will discuss the dermatologist's role in the diagnosis of these lesions. At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. This article highlights the differences in clinical appearance and discusses the differential diagnosis of extensive vascular malformations in an attempt to ensure earlier diagnosis and better outcomes for these patients. PMID:22000870
Redondo, Pedro; Aguado, Leyre; Martínez-Cuesta, Antonio
US of the spinal cord in newborns: spectrum of normal findings, variants, congenital anomalies, and acquired diseases.
Ultrasonography (US) of the spinal cord is performed in newborns with signs of spinal disease (cutaneous lesions of the back, deformities of the spinal column, neurologic disturbances, suspected spinal cord injury due to traumatic birth, and syndromes with associated spinal cord compression). The examination is performed with high-frequency linear- and curved-array transducers in the sagittal and axial planes from the craniocervical junction to the sacrum. Normal variants such as transient dilatation of the central canal and ventriculus terminalis can be demonstrated with US. US allows detection of congenital malformations, such as myelocele or myelomeningocele, spinal lipoma, dorsal dermal sinus, tight filum terminale syndrome, diastematomyelia, terminal myelocystocele, lateral meningocele, caudal regression syndrome, and hydromyelia or syringomyelia. Acquired intraspinal diseases following birth trauma and transient alterations after lumbar puncture can also be detected with US. US can demonstrate the entire spectrum of intraspinal anatomy and pathologic conditions with high geometric resolution. Therefore, US should be considered the initial imaging modality of choice for investigating the spinal cord in newborns. PMID:10903684
Unsinn, K M; Geley, T; Freund, M C; Gassner, I
Prenatal diagnosis of congenital renal and urinary tract malformations
Congenital abnormalities of the kidneys and the urinary tract are the most common sonographically identified malformations in the prenatal period. Obstructive uropathies account for the majority of cases. The aim of prenatal diagnosis and management is to detect those anomalies having impact on the prognosis of the affected child and requiring early postnatal evaluation or treatment to minimize adverse outcomes. In this paper, we summarize the embryology of kidneys and urinary tract, the normal sonographic appearance throughout pregnancy and the prenatal diagnosis of their congenital malformations.
Hindryckx, A.; De Catte, L.
Dandy Walker malformation and hypertrophic cardiomyopathy. Unusual fatal association.
Dandy Walker malformation (DWM) is a rare congenital brain anomaly characterized by cystic dilation of the fourth ventricle and hypoplasia of the cerebellar vermis. Other extracranial anomalies can be associated, including cardiac defects. We report a rare patient with DWM associated with progressive heart failure secondary to hypertrophic cardiomyopathy. He was diagnosed at 2 months of age and died 5 months later. We conclude that hypertrophic cardiomyopathy can be associated with DWM with poor prognosis. A careful cardiac evaluation is needed in all infants with DWM for early recognition of such potentially serious associated cardiac malformations. PMID:21048653
Kurdi, Maher E; Chamsi-Pasha, Mohammed A; Baeesa, Saleh S; Jan, Mohammed M
Incorporating Amphibian Malformation into Inquiry-Based Learning
NSDL National Science Digital Library
Since the first discovery of malformed frogs by an adventurous middle school teacher and her after-school science club in 1995, outreach programs like A Thousand Friends of Frogs (see Resources) have been created to connect students and teachers with scientists so that they can better understand frogs and their habitats. Many of the amphibian-malformation activities published in education-practitioner journals approach this subject through internet investigations (Webster 2002), hypothetical case studies (Murphy and Fortner 2001), or reading with discussion (Davidson, Matthews, and Patrick 2001). These activities can be supplemented with inquiry-based labs designed to instruct and engage students about conservation biology, as described in this article.
Talley, Brooke L.
Uncommon cavernous malformation of the optic chiasm: a case report
Cavernous malformation (CM) is a vascular malformation disorder characterized by a berry-like mass of expanded blood vessels. CM, originating from the optic chiasm. usually leads to chiasma syndrome presenting with bitemporal hemianopsia. We report a 28-year-old male presenting with left homonymous hemianopsia. Magnetic resonance imaging (MRI) revealed an occupied lesion located in the right side of the optic chiasm, and a clinical diagnosis of chiasmal CM was made. Microsurgical excision was performed via anterolateral pterional craniotomy. The patient showed good recovery with slight improvement of the visual field deficits after the operation. No CM recurrence was discovered during the follow-up MRI scans.
Urodynamics of spinal cord injury.
Historically, urologic complications have been the major source of morbidity and mortality among spinal cord injured (SCI) patients. All SCI patients should undergo urodynamic evaluation, with the initial urodynamics study done after the patient is beyond the spinal-shock phase. Management of the urinary tract in SCI individuals should be based on urodynamic principles and findings rather than on the neurologic history. PMID:8701559
Watanabe, T; Rivas, D A; Chancellor, M B
Split nut in blowout preventer
An improved split nut is described for use in a blowout preventer on a well, a. the well including b. a well bore extending downward within the earth and having a bore bottom, c. a well casing extending downward within the well bore, d. a well head atop the casing above ground surface, e. the blowout preventer being installed on the well head, and including f. a preventer body having a preventer bore therethrough, fluidly connected to the well bore, g. opposed carriages horizontally slidably mounted within the preventer body, h. at least one pair of threaded actuating screws journaled within the preventor body adjacent the carraiges and the preventer bore, i. a slot in each carriage adjacent one of the actuating screws, j. ears adjacent each of the slots, and k. each of the split nuts having l. a nut base, m. a nut cap, n. a threaded nut bore adapted to threadably receive the actuacting screw therethrough, o. nut flanges extending from each nut base, adapted to slidably engage the slot ears when the nut base is positioned in the slot.
Bednarz, J.W.
[Traumatic recurrence of idiopathic spinal cord herniation].
Idiopathic spinal cord herniation is a rare cause of thoracic myelopathy and its recurrence is even more infrequent. Cord herniation is through an anterior dural defect in thoracic spine with unknown causes. Symptomatic cases must be surgically treated to reduce the hernia and seal the defect to prevent recurrences. We report a patient presenting a Brown-Séquard syndrome secondary to a D5 spinal cord herniation treated successfully and its posterior traumatic recurrence. PMID:23453309
Lorente-Muńoz, Asís; Cortés-Franco, Severiano; Moles-Herbera, Jesús; Casado-Pellejero, Juan; Rivero-Celada, David; Alberdi-Vińas, Juan
Bladder cancer in spinal cord injury patients
Study design:Retrospective review.Objective:Spinal cord injury is a known risk factor for bladder cancer. The risk of bladder cancer has been reported at 16–28 times higher than the general population. Earlier studies have identified indwelling catheters as risk factors. We examined the characteristics of bladder cancers in a spinal cord injury (SCI) population.Setting:Long Beach VA Hospital Spinal Cord Injury Unit, Long
J F Kalisvaart; H K Katsumi; L D Ronningen; R M Hovey
Identification of a microdeletion at 7q21.3 with fluorescence in situ hybridization in a patient with split hand/split foot (ectrodactyly)
Split hand/split foot (SHSF), often referred to as ectrodactyly or lobster claw deformity, is a human developmental disorder characterized by a deep median cleft of the hands and feet, missing digits, and fusion of remaining digits. This anomaly can be seen alone, frequently autosomal dominant, or in association with other abnormalities. One locus for this defect has been localized to chromosome 7q21.3-q22.1. We report a patient with SHSF plus mental retardation, short stature and dysmorphic features who was found to have a microdeletion at this locus detected only with the aid of fluorescence in situ hybridization (FISH). T.H. is a 7 y.o. male who was referred for evaluation of foot anomalies and mild mental retardation. History was remarkable for growth retardation of postnatal onset and hypotonia. Renal ultrasound and audiology evaluation were normal. Physical exam revealed dysplastic ears, micrognathia, long philtrum, high narrow palate, and malformations of the feet consistent with SHSF. Family history was negative for limb abnormalities and mental retardation. A number of patients with SHSF and other anomalies have been found to have deletions involving chromosome 7q21-q22; therefore, high resolution chromosome analysis was performed in T.H. but was inconclusive. Cosmids and yeast artificial chromosomes which we had previously mapped to the SHSF critical region were used as FISH probes and a microdeletion was detected. We were thus able to determine the etiology of this child`s abnormalities and provide accurate genetic counseling, which would not have been possible with standard cytogenetic techniques. This technique also allowed us to further refine the SHSF critical region. This case illustrates the utility of FISH for the rapid identification of suspect microdeletions in SHSF. This approach should also be useful as an expeditious way of defining the critical regions for the location of genes which give rise to other developmental malformations.
Hudgins, L. [Children`s Hospital and Medical Center, Seattle, WA (United States); Massa, H.; Disteche, C. [Univ. of Washington, Seattle, WA (United States)] [and others
Cardiovascular malformation in infant deaths. 10-year clinical and epidemiological study
The infant mortality from cardiovascular malformations in a region with a population of 2 million inhabitants during a 10-year period has been studied. The study involved validation of the diagnoses and judgement whether the cardiovascular malformation was the dominating or a contributing cause of death. It is shown that the incidence of fatal cardiovascular malformations is probably overestimated in the
E Esscher; M Michaëlsson; B Smedby
Notch-1 Signalling Is Activated in Brain Arteriovenous Malformations in Humans
ERIC Educational Resources Information Center
A role for the Notch signalling pathway in the formation of arteriovenous malformations during development has been suggested. However, whether Notch signalling is involved in brain arteriovenous malformations in humans remains unclear. Here, we performed immunohistochemistry on surgically resected brain arteriovenous malformations and found that,…
ZhuGe, Qichuan; Zhong, Ming; Zheng, WeiMing; Yang, Guo-Yuan; Mao, XiaoOu; Xie, Lin; Chen, Gourong; Chen, Yongmei; Lawton, Michael T.; Young, William L.; Greenberg, David A.; Jin, Kunlin
Perinatal features and umbilical cord blood gases in newborns complicated with nuchal cord
Presence of nuchal cord (NC) is associated with transient decrease of umbilical cord blood flow. However, the exact perinatal effect of presence of NC in a newborn is still under debate. The aim of this study was to evaluate the perinatal complications and umbilical cord blood gases of deliveries complicated with NC and summarize the associated literature. Gestational age-matched term
Lütfü S. Öndero?lu; Polat Dursun; Tekin Durukan
Posterior spinal cord block: a dosimetric study
To determine the optimal width of a midline posterior spinal block (MPSB) (to avoid delivering too great a dose to the cord and too small a dose to adjacent tissue), the authors determined with magnetic resonance (MR) imaging normal ranges of cord depth and width and correlated them with film dosimetric data. In 59 randomly selected patients there was a wide range for both depth and width. The average depths of the anterior and posterior surfaces of the cord were 6.7 cm +/- 1.4 and 5.4 cm +/- 1.3, respectively. The average cord width was 1.6 cm +/- 0.4. Optimal cord block width as a function of cord width was determined for a 6-MV photon beam. The optimal cord block width at the surface (half-value layer (HVL) thickness = 6) varied from 1.5 to 3.0 cm for cord widths of 0.8-2.4 cm, which correspond to two standard deviations from the average. There was no significant dependence on depth of the cord. For optimal treatment outcome, the MPSB width may have to be determined for each patient individually.
Mota, H.C.; Vijayakumar, S.; Sibata, C.; Higgins, P.D.; Thomas, F.J.; Saxton, J.; Weinstein, M.
[Idiopathic spinal cord herniation: a rare condition].
Idiopathic spinal cord hernia, in which the reason that spinal cord protrudes through a defect in the dura mater is unknown, is a rare cause of progressive myelopathy. The most common clinical presentation is Brown-Séquard syndrome. Spinal cord herniation is a reversible cause of myelopathy: surgery to correct the defect in the dura mater has a high rate of functional recovery. Thus, early imaging detection is crucial. Magnetic resonance imaging is the technique of choice for the diagnosis. We present two cases of idiopathic spinal cord herniation and show the imaging findings that make it possible to recognize and diagnose this condition. PMID:20382404
Salvador Álvarez, E; Jiménez De La Peńa, M; Herraiz Hidalgo, L; Pardo Moreno, J
Chiari type 1 malformation in a pseudotumour cerebri patient: is it an acquired or congenital Chiari malformation?
Chiari malformation type 1 (CM1) is a developmental abnormality of the cerebellar tonsils. Patients with CM1 commonly present with headache. Papilloedema is rarely seen in CM1. However, a 52-year-old woman presented to the hospital with a headache and her ophthalmological examination revealed bilateral papilloedema. Her cranial MRI was compatible with borderline CM1. Bilateral papilloedema and headache suggested idiopathic intracranial hypertension (IIH) as the preliminary diagnosis. IIH is a rare case in CM1. This article argues about this association and discusses as to whether it is an acquired or congenital Chiari malformation. PMID:24898995
Istek, Seref
How Are Brain and Spinal Cord Tumors in Children Diagnosed?
... spinal cord tumors in children staged? How are brain and spinal cord tumors in children diagnosed? Brain ... to confirm the diagnosis. Signs and symptoms of brain and spinal cord tumors Signs and symptoms from ...
The Problem of Split Comets Revisited
NASA Technical Reports Server (NTRS)
The results from studies of D/Shoemaker-Levy 9 and other recent split comets and comet pairs lead to the recognition of fundamental differences between breakup products of the tidally and nontidally split comets and to the conclusive indentification of the so-called dissipating comets as secondary nuclei of previously split comets, whose separately arriving principal nulei had in most cases been missed.
Sekanina, Z.
Polymicrogyria: A common and heterogeneous malformation of cortical development.
Polymicrogyria (PMG) is one of the most common malformations of cortical development. It is characterized by overfolding of the cerebral cortex and abnormal cortical layering. It is a highly heterogeneous malformation with variable clinical and imaging features, pathological findings, and etiologies. It may occur as an isolated cortical malformation, or in association with other malformations within the brain or body as part of a multiple congenital anomaly syndrome. Polymicrogyria shows variable topographic patterns with the bilateral perisylvian pattern being most common. Schizencephaly is a subtype of PMG in which the overfolded cortex lines full-thickness clefts connecting the subarachnoid space with the cerebral ventricles. Both genetic and non-genetic causes of PMG have been identified. Non-genetic causes include congenital cytomegalovirus infection and in utero ischemia. Genetic causes include metabolic conditions such as peroxisomal disorders and the 22q11.2 and 1p36 continguous gene deletion syndromes. Mutations in over 30 genes have been found in association with PMG, especially mutations in the tubulin family of genes. Mutations in the (PI3K)-AKT pathway have been found in association PMG and megalencephaly. Despite recent genetic advances, the mechanisms by which polymicrogyric cortex forms and causes of the majority of cases remain unknown, making diagnostic and prenatal testing and genetic counseling challenging. This review summarizes the clinical, imaging, pathologic, and etiologic features of PMG, highlighting recent genetic advances. © 2014 Wiley Periodicals, Inc. PMID:24888723
Stutterd, Chloe A; Leventer, Richard J
Two-Staged Radiosurgical Treatment of Large Arteriovenous Malformations
When the size of an arteriovenous malformation (AVM) in any one direction is more than 4 cm, an attempt is made to treat it in two stages, separated by 6 months. The first stage treats one-half of the AVM and the remainder is treated in the second stage, thus giving rise to a higher prescription dose for each stage. Therefore,
Hideo D. Kubo; Richard B. Wilder; Conrad T. Pappas; John D. Earle; Robin L. Stern
C57BL/6N mice, used to model induction of cleft palate and kidney malformations in offspring following maternal treatment with TCDD, were dosed on gestation day (gd) 9 with ,2',4,4',5,5'-hexachloro-biphenyl (HCB) (62.5, 125, 250, 500. 1000 mg/kg) and/or gd 10 with 2,3,7,8-tetrach...
Axial skeletal malformations induced by acetazolamide in rabbits.
In order to evaluate the teratogenic potential of acetazolamide in rabbits, three groups of 18 artificially inseminated females were treated orally with 50, 100, or 150 mg/kg/day of acetazolamide on days 6-18 of gestation. These doses induced maternal acidosis and electrolyte changes, consistent with those reported in rats and considered to be a result of carbonic anhydrase inhibition, as well as reductions in maternal body weight gain. At cesarean sections, average fetal body weights in the acetazolamide groups were dose-dependently decreased compared with controls. There were no effects of acetazolamide on embryonic survival or external morphology of live fetuses. In the fetal skeletal examination, thoracic and lumbar vertebral malformations occurred in 0.7%, 3.9%, and 6.1% of fetuses in the 50, 100, and 150 mg/kg/day groups, respectively, compared with none in the control group. In addition, missing vertebra was seen in a small number of fetuses in the 100 and 150 mg/kg/day groups. These axial skeletal malformations were, in some cases, associated with costal malformations. These results indicate that acetazolamide at maternotoxic doses can produce axial skeletal malformations in the rabbit. PMID:1412055
Nakatsuka, T; Komatsu, T; Fujii, T
Molecular control of vertebrate limb development, evolution and congenital malformations
The vertebrate limb is a powerful model system for studying the cellular and molecular interactions that determine morphological pattern during embryonic development. Recent advances in our understanding of these interactions have shed new light on the molecular mechanisms of vertebrate limb development, evolution and congenital malformations. The transfer of information has, until recently, been largely one way, with developmental studies
Martin J. Cohn; Philippa E. Bright
Fetal central nervous system malformations on MR images
Sonography is the method of choice for prenatal malformation screening but it does not always provide sufficient information for correct diagnosis or adequate abnormality evaluation. Fetal magnetic resonance imaging (MRI) is considered as a valuable second line imaging tool for confirmation, completion and correction of sonographic findings. Fetal MRI has proven its value in the evaluation of central nervous system
Izabela Herman-Sucharska; Monika Bekiesi?ska-Figatowska; Andrzej Urbanik
Proximity to Pollution Sources and Risk of Amphibian Limb Malformation
The cause of limb deformities in wild amphibian populations remains unclear, even though the apparent increase in prevalence of this condition may have implications for human health. Few studies have simultaneously assessed the effect of multiple exposures on the risk of limb deformities. In a cross-sectional survey of 5,264 hylid and ranid metamorphs in 42 Vermont wetlands, we assessed independent risk factors for nontraumatic limb malformation. The rate of nontraumatic limb malformation varied by location from 0 to 10.2%. Analysis of a subsample did not demonstrate any evidence of infection with the parasite Ribeiroia. We used geographic information system (GIS) land-use/land-cover data to validate field observations of land use in the proximity of study wetlands. In a multiple logistic regression model that included land use as well as developmental stage, genus, and water-quality measures, proximity to agricultural land use was associated with an increased risk of limb malformation (odds ratio = 2.26; 95% confidence interval, 1.42–3.58; p < 0.001). The overall discriminant power of the statistical model was high (C = 0.79). These findings from one of the largest systematic surveys to date provide support for the role of chemical toxicants in the development of amphibian limb malformation and demonstrate the value of an epidemiologic approach to this problem.
Taylor, Brynn; Skelly, David; Demarchis, Livia K.; Slade, Martin D.; Galusha, Deron; Rabinowitz, Peter M.
Paraspinal arteriovenous malformation Onyx embolization via an Ascent balloon.
Purely extradural lumbar spinal arteriovenous malformations (AVMs) are rare lesions that have diverse presentations and imaging features. The treatment of a symptomatic high flow paraspinal AVM with multiple feeders remains a challenge. We report the first use of an Ascent balloon (dual lumen balloon catheter) to deliver Onyx with excellent penetration to a paraspinal AVM. PMID:23524491
Martínez-Galdámez, Mario; Rodriguez-Arias, Carlos A; Utiel, Elena; Arreba, Emilio; Gonzalo, Miguel; Arenillas, Juan F
Congenital malformations and birthweight in areas with potential environmental contamination
Public concern exists about the potential for reproductive damage that may result from exposures to environmental contaminants. Therefore, the authors sought to determine if there was an association between a child's congenital malformation or a child's lowered weight at birth and his or her mother's residence in a census tract where a site of environmental contamination had been documented. Exposure
G. M. Shaw; J. Schulman; J. D. Frisch; J. A. Harris; S. K. Cummins
Congenital Malformations and Birthweight in Areas with Potential Environmental Contamination
Public concern exists about the potential for reproductive damage that may result from exposures to environmental contaminants. Therefore, the authors sought to determine if there was an association between a child's congenital malformation or a child's lowered weight at birth and his or her mother's residence in a census tract where a site of environmental contamination had been documented. Exposure
Gary M. Shaw; Jane Schulman; Jonathan D. Frisch; Susan K. Cummins; John A. Harris
Congenital malformations of the central nervous system in spontaneous abortions
A study of 2620 pregnancies ending in spontaneous abortion revealed a CNS defect in 3.6% of embryos and fetuses, and 3% of all complete conceptuses. The type of malformation observed varied with the gestational age at expulsion, encephaloceles being predominant in earlier specimens, while more typical anencephalus and spina bifida were more common among later abortions. Chromosome abnormalities were found
M R Creasy; E D Alberman
Cadmium induced malformation in eyes of Ambassis commersoni cuvier
Pathological manifestations in fishes from the polluted environment reflect the deleterious effects of environmental damage to higher animals in the food chain including man. Industrial and mining wastes containing cadmium ions induced several abnormalities and metabolic disorders in aquatic animals. Though cadmium is reported to be toxic to all tissues of animals, cadmium-induced malformations in eyes of fish have not
V. Pragatheeswaran; B. Loganathan; R. Natarajan; V. K. Venugopalan
Diencephalic-Mesencephalic Junction Dysplasia: A Novel Recessive Brain Malformation
ERIC Educational Resources Information Center
We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic "butterfly"-like contour of the midbrain on…
Zaki, Maha S.; Saleem, Sahar N.; Dobyns, William B.; Barkovich, A. James; Bartsch, Hauke; Dale, Anders M.; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G.; Grijalvo-Perez, Ana Maria
Variable filling of an arteriovenous malformation during carotid angiography
Summary An 11-year-old girl was operated on for a frontal arteriovenous malformation in 1978; a postoperative carotid angiogram showed no filling of the AVM. The patient still had epilepsy. In 1981 a carotid angiogram showed no AVM. Some months later a new carotid angiography was done. In the first lateral series no AVM was seen but on the second injection
M. Porras; A. Servo; J. Jääskinen
Diagnosis and Nonsurgical Management of Uterine Arteriovenous Malformation
Uterine arteriovenous malformation (AVM) is an uncommon problem and traditional treatment by hysterectomy excludes the possibility of future pregnancy. Developments in interventional techniques make transcatheter embolization of the feeding vessel(s) a therapeutic alternative, potentially preserving the patient's fertility. We present a case of successful endovascular treatment of uterine AVM.
Rangarajan, R. D.; Moloney, J. C.; Anderson, H. J. [Eastbourne District General Hospital, Department of Radiology (United Kingdom)], E-mail: email@example.com
Anorectal malformation and Down's syndrome in monozygotic twins
Anorectal malformation (ARM) can be divided in high, intermediate, and low forms according to the level of termination of the rectum in relation to the pubococcygeal and ischiatic lines. Patients with Down's syndrome have a high incidence of gastrointestinal anomalies, such as tracheoesophageal fistula, duodenal obstruction, annular pancreas, Hirschsprung's disease, and ARM. In these children, ARM is generally low with
Anthony S. de Buys Roessingh; Claudia Mueller; Chad Wiesenauer; Arié L. Bensoussan; Mona Beaunoyer
[A case of malformation in Pachycheles serratus (Decapoda: Porcellanidae)].
An adult male of Pachycheles serratus with a malformation on the right cheliped was found during a collection of anomuran crabs in coastal waters of the peninsula de Macanao, Margarita island, Venezuela. The specimen was found at La Carmela beach (11 degrees 04'N-64 degrees 20'W), and featured a bifurcated fixed finger on the right cheliped. PMID:15264565
Lira, C; Hernández, G; Bolańos, J A
An endodermal cyst: the result of a congenital intestinal malformation
A midline exploratory laparotomy on a 1-year-old, neutered male, West Highland terrier with a history of lethargy, anorexia, and intermittent vomiting revealed a cranial abdominal cyst. The lining of the excised cyst was histologically identical with that of the small intestine and may have represented an uncommon intestinal malformation.
Cooper, Johanna C.
Late-Onset Congenital Cystic Adenomatoid Malformation of the Lung
Background: Congenital cystic adenomatoid malformation of the lung (CCAM) is an embryonic developmental anomaly of an unknown etiology usually diagnosed antenatally by imaging techniques. A minority of cases may not be identified by prenatal imaging techniques and may go unnoticed for the first 6 months of their extrauterine life. Due to its rarity, physicians are unlikely to suspect the condition.
Manel Luján; Montserrat Bosque; Rosa M. Mirapeix; M. Teresa Marco; Oscar Asensio; Christian Domingo
The North American Reporting Center for Amphibian Malformations
NSDL National Science Digital Library
The Northern Prairie Wildlife Research Center (NPWRC) has posted several more resources online. This article introduces readers to The North American Reporting Center for Amphibian Malformations and discusses availability and uses of the Center's databases and resources. The resource may be browsed online or downloaded as a .zip file.
Fowle, Suzanne C.; Johnson, Douglas H.; Jundt, Jeffrey A.
Congenital malformations of the genital tract and their management
While congenital malformations of the genital tract are not common, the sequelae of their presence can be serious. The practising gynaecologist must be aware of the range of congenital abnormalities that may occur and the symptoms that may result from them. Failure to manage these patients correctly may have long-term sequelae for their psychological, sexual and reproductive health. The involvement
D. Keith Edmonds
Seizures in Chiari I Malformation: A Clinical and Electroencephalographic Study
Seven subjects with Chiari I malformations and seizures (four males, three females; age range 11 years, 7 months to 36 years; mean, 22.28 ± 7.58 years; median, 21) were identified in four different centers from among a group of 10 patients. Our aim was to analyze clinical and electroencephalographic characteristics of seizures in this etiologically homogeneous group of patients. Most
Maurizio Elia; Roberto Biondi; Vito Sofia; Sebastiano A. Musumeci; Raffaele Ferri; Giuseppe Capovilla; Paolo Curatolo
Paraspinal arteriovenous malformation Onyx embolization via an Ascent balloon.
Purely extradural lumbar spinal arteriovenous malformations (AVMs) are rare lesions that have diverse presentations and imaging features. The treatment of a symptomatic high flow paraspinal AVM with multiple feeders remains a challenge. We report the first use of an Ascent balloon (dual lumen balloon catheter) to deliver Onyx with excellent penetration to a paraspinal AVM. PMID:23543731
Martínez-Galdámez, Mario; Rodriguez-Arias, Carlos A; Utiel, Elena; Arreba, Emilio; Gonzalo, Miguel; Arenillas, Juan F
[Acetylcholinesterase: an additional test for diagnosis of fetal malformations].
From an observation of in utero suspected myelomeningocele, the authors underline interest of pattern of cholinesterases using acrylamide gel electrophoresis. The AChE isoenzyme band appears in some fetal malformations, particularly NTD. This biochemical test is considered as complementary of the AF alpha-fetoprotein assay. PMID:7276919
Guibaud, S; Simplot, A; Bonnet, M; Fara, J F; Thoulon, J M; Dumont, M; Guibaud, P; Robert, J M
Case report: Ocular malformation with a 'double globe' appearance
Colobomatous cyst of the orbit is a rare congenital cystic malformation associated with ocular maldevelopment. Usually, the cyst is associated with a microphthalmic globe. We present a rare case of a unilateral large colobomatous cyst associated with a normal-sized globe, giving the appearance of a double globe on imaging.
Kim, Usha R; Arora, Vipul; Shah, Akash D; Srinivasan, KG
Failed transarterial embolization of subserosal uterine arteriovenous malformation
Uterine arteriovenous malformation (AVM) is rare but potentially life-threatening from excessive vaginal bleeding. All uterine AVMs reported to date have been found in the endometrial or myometrial layers. Here we present a patient with a subserosal type AVM on the fundus of uterus, which spontaneously ruptured.
Seo, Kyung Jin; Kim, Jin; Sohn, In Sook; Kwon, Han Sung; Park, Sang Woo
Genes in genital malformations and male reproductive health
Abstract ,Genital malformations constitute the most common,birth defects encountered in man,and domes- tic animals. They occur more ,frequently in genetic males since the participation of many genes is required for sex differentiation to proceed in the male direction. The emerging insight, through the identification of genes involved in the sex differentiation cascade, is that over 85 percent of sex anomalies
P. K. Basrur; V. R. Basrur
Staged Gamma Knife Radiosurgery for Large Cerebral Arteriovenous Malformations
Background: We present our experience over a 10-year period of staged radiosurgery for large arteriovenous malformations (AVMs) including patient outcomes and methods. Methods: From July 2000 to December 2010, 80 patients with AVMs were treated with gamma knife radiosurgery (GKS) at our institution; of these patients, 5 were treated for large AVMs with staged GKS (volumes >20 cm3). The mean
Kwame Amponsah; Thomas L. Ellis; Michael D. Chan; J. Daniel Bourland; Stephen S. Glazier; Kevin P. McMullen; Edward G. Shaw; Stephen B. Tatter
Brain Arteriovenous Malformations: Assessment with Dynamic MR Digital Subtraction Angiography
BACKGROUND AND PURPOSE: Conventional catheter angiography (CCA) is the current reference standard for the diagnosis, assessment, and management of pial brain arteriovenous malformations (AVMs). The purpose of this study was to develop an MR angiographic tech- nique that produces dynamic images comparable to those provided by CCA and to apply the technique to the investigation of pial brain AVMs. METHODS:
Paul D. Griffiths; Nigel Hoggard; Daniel J. Warren; Iain D. Wilkinson; Bob Anderson; Charles A. Romanowski
Dephasing in coherently split quasicondensates
We numerically model the evolution of a pair of coherently split quasicondensates. A truly one-dimensional case is assumed, so that the loss of the (initially high) coherence between the two quasicondensates is due to dephasing only, but not due to the violation of integrability and subsequent thermalization (which are excluded from the present model). We confirm the subexponential time evolution of the coherence between two quasicondensates {proportional_to}exp[-(t/t{sub 0}){sup 2/3}], experimentally observed by Hofferberth et al. [Nature 449, 324 (2007)]. The characteristic time t{sub 0} is found to scale as the square of the ratio of the linear density of a quasicondensate to its temperature, and we analyze the full distribution function of the interference contrast and the decay of the phase correlation.
Stimming, H.-P.; Mauser, N. J. [Wolfgang Pauli Institute c/o University of Vienna, A-1090 Vienna (Austria); Schmiedmayer, J. [Vienna Center for Quantum Science and Technology, Atominstitut, TU Wien, A-1020 Vienna (Austria); Mazets, I. E. [Wolfgang Pauli Institute c/o University of Vienna, A-1090 Vienna (Austria); Vienna Center for Quantum Science and Technology, Atominstitut, TU Wien, A-1020 Vienna (Austria); Ioffe Physico-Technical Institute, 194021 St. Peterburg (Russian Federation)
Brane splitting via quantum tunneling
NASA Astrophysics Data System (ADS)
We study the two-centred AdS7× S4 solution of eleven-dimensional supergravity using the Euclidean path-integral approach, and find that it can be interpreted as an instanton, signalling the splitting of the throat of the M5-brane. The instanton is interpreted as indicating a coherent superposition of the quantum states corresponding to classically distinct solutions. This is a surprising result since it leads, through the AdS/CFT correspondence, to contradictory implications for the dual (2,0) superconformal field theory on the M5-brane. We also argue that similar instantons should exist for other branes in ten- and eleven-dimensional supergravity. The counterterm subtraction technique for gravitational instantons, which arose from the AdS/CFT correspondence, is examined in terms of its applicability to our results. Connections are also made to the work of Maldacena et al on anti-de Sitter fragmentation.
Ng, Selena; Perry, Malcolm
Relativistic electron drift shell splitting
NASA Astrophysics Data System (ADS)
A survey of equatorial outer radiation belt relativistic electron pitch angle distributions measured on the Polar satellite shows anisotropies that are consistent with the effects of drift shell splitting. Simulations based on the observed radial intensity gradients and on drift shell calculations in a magnetospheric field model show that for low geomagnetic activity levels, the measured average anisotropies are similar to those predicted. With increasing geomagnetic activity the anisotropies do not change as much as is predicted, particularly on the nightside where the pitch angle distributions have local minima in the direction perpendicular to the magnetic field. At a given location and activity level there is substantial variability in the measured anisotropies about their long-term averages.
Selesnick, R. S.; Blake, J. B.
Split Immunological Tolerance to Trophoblast
Split immunological tolerance refers to states in which an individual is capable of mounting certain types of immune responses to a particular antigenic challenge, but is tolerant of the same antigen in other compartments of the immune system. This concept is applicable to the immunological relationship between mother and fetus, and particularly relevant in equine pregnancy. In pregnant mares, antibody responses to paternal foreign Major Histocompatibility Complex class I antigens are robust, while anti-paternal cytotoxic T cell responses are diminished compared to those mounted by non-pregnant mares. Here we compared the distribution of the major lymphocyte subsets, the percentage of lymphocytes expressing Interferon Gamma (IFNG) and Interleukin 4 (IL4) and the level of expression of the immunoregulatory transcription factor FOXP3 between pregnant and non-pregnant mares, and between peripheral blood and the endometrium during pregnancy. In a cohort of mares in which peripheral blood lymphocytes were tested during early pregnancy and in the non-pregnant state, there were only slight changes observed during pregnancy. In contrast, comparison of peripheral blood lymphocytes with lymphocytes isolated from the endometrial cups of pregnant mares revealed striking differences in lymphocyte sub-populations. The endometrial cups contained higher numbers of IFNG+ lymphocytes, and lower numbers of lymphocytes expressing IL4. The endometrial cup lymphocytes also had higher numbers of FOXP3+ cells compared to peripheral blood lymphocytes. Taken together, these results strengthen the evidence for a state of split tolerance to trophoblast, and furthermore define sharp differences in immune reactivity during equine pregnancy between peripheral blood lymphocytes and lymphocytes at the maternal-fetal interface.
de Mestre, Amanda; Noronha, Leela; Wagner, Bettina; Antczak, Douglas F.
Disorders of cognitive and affective development in cerebellar malformations.
Acquired cerebellar lesions in adults and children can lead to the development of a complex behavioural pattern termed 'Cerebellar Cognitive Affective Syndrome' (Schmahmann and Sherman, Brain, 1998; 121: 561-79), which is characterized by reduced cognitive efficiency associated with specific neuropsychological deficits (executive and visuospatial disorders), expressive language disorders (mild agrammatism and anomia) and affective disorders with blunting of affect. It is not known whether a symptomatological picture such as this can also be found in congenital cerebellar malformations. We studied the behavioural developmental profile of 27 patients including children and adults with congenital malformations confined to the cerebellum, the largest studied sample to date. Extensive clinical and neuropsychological investigations highlight the presence of a wide range of disorders supporting the important role played by the cerebellum in the acquisition of higher-order cognitive and affective skills. The type and extent of cerebral reorganization processes in the presence of malformative lesions are difficult to predict and may possibly account for the variability of clinical phenotypes. It is, therefore, more difficult to identify a syndromic picture defined as exactly as is the case with acquired lesions. However, the pattern of deficits that we document is in remarkable agreement with the general profile of the Cerebellar Cognitive Affective Syndrome. Malformations affecting the cerebellar vermis induce affective and social disorders and evolve towards more unfavourable pictures often associated with an autistic symptomatology. Malformations of cerebellar hemispheres are more frequently associated with selective neuropsychological deficits involving mainly executive functions and visuospatial and linguistic abilities. Motor deficits are generally less severe, and tend to improve slowly and progressively, in some cases reaching almost complete functionality. Finally, the overall favourable evolution with an onset of skills in advanced age in a consistent subset of subjects suggests that individual follow-ups should be performed in order to monitor the quality and stability of impairments and acquired abilities over time. PMID:17872929
Tavano, Alessandro; Grasso, Rita; Gagliardi, Chiara; Triulzi, Fabio; Bresolin, Nereo; Fabbro, Franco; Borgatti, Renato
cis-Regulatory Mutations Are a Genetic Cause of Human Limb Malformations
The underlying mutations that cause human limb malformations are often difficult to determine, particularly for limb malformations that occur as isolated traits. Evidence from a variety of studies shows that cis-regulatory mutations, specifically in enhancers, can lead to some of these isolated limb malformations. Here, we provide a review of human limb malformations that have been shown to be caused by enhancer mutations and propose that cis-regulatory mutations will continue to be identified as the cause of additional human malformations as our understanding of regulatory sequences improves.
VanderMeer, Julia E.; Ahituv, Nadav
Congenital pulmonary malformations in pediatric patients: review and update on etiology, classification, and imaging findings.
Congenital pulmonary malformations represent a heterogeneous group of developmental disorders affecting the lung parenchyma, the arterial supply to the lung, and the lung's venous drainage. In both asymptomatic and symptomatic pediatric patients with congenital pulmonary malformations, the diagnosis of such malformations usually requires imaging evaluation, particularly in cases of surgical lesions for preoperative assessment. The goal of this article is to review the current imaging techniques for evaluating congenital pulmonary malformations and their characteristic imaging findings, which can allow differentiation among various congenital pulmonary malformations in pediatric patients. PMID:21889015
Lee, Edward Y; Dorkin, Henry; Vargas, Sara O
Spontaneous resolution of a Chiari malformation Type I and syrinx after supratentorial craniotomy for excision of a cavernous malformation.
The pathogenesis of Chiari malformation Type I (CM-I) and associated syringomyelia is incompletely understood. Patients often present in middle age with incidental or minimally symptomatic CM-I, whose management is controversial. One option is clinical and radiographic observation of asymptomatic and minimally symptomatic patients. The authors here present the case of a 36-year-old woman who had been monitored for 6 years for a minimally symptomatic CM-I and cervicothoracic syrinx. After 5 years of follow-up, she suffered spontaneous rupture of a cerebral cavernous malformation when she was 27 weeks pregnant. The ruptured cavernous malformation and hematoma were operatively managed via a right frontal craniotomy. Ten months after the craniotomy for resection of the ruptured cavernous malformation, follow-up MRI demonstrated resolution of the CM-I and syrinx. Few similar cases have been reported in adults. This case argues for the presence of dynamic factors in the development and maintenance of CM-I and supports the nonoperative treatment of asymptomatic and minimally symptomatic patients. PMID:22324421
Miele, William R; Schirmer, Clemens M; Yao, Kevin C; Heilman, Carl B
Is a Swine Model of Arteriovenous Malformation Suitable for Human Extracranial Arteriovenous Malformation? A Preliminary Study
Objective: A chronic arteriovenous malformation (AVM) model using the swine retia mirabilia (RMB) was developed and compared with the human extracranial AVM (EAVM) both in hemodynamics and pathology, to see if this brain AVM model can be used as an EAVM model. Methods: We created an arteriovenous fistula between the common carotid artery and the external jugular vein in eight animals by using end-to-end anastomosis. All animals were sacrificed 1 month after surgery, and the bilateral retia were obtained at autopsy and performed hematoxylin and eosin staining and immunohistochemistry. Pre- and postsurgical hemodynamic evaluations also were conducted. Then, the blood flow and histological changes of the animal model were compared with human EAVM. Results: The angiography after operation showed that the blood flow, like human EAVM, flowed from the feeding artery, via the nidus, drained to the draining vein. Microscopic examination showed dilated lumina and disrupted internal elastic lamina in both RMB of model and nidus of human EAVM, but the thickness of vessel wall had significant difference. Immunohistochemical reactivity for smooth muscle actin, angiopoietin 1, and angiopoietin 2 were similar in chronic model nidus microvessels and human EAVM, whereas vascular endothelial growth factor was significant difference between human EAVM and RMB of model. Conclusions: The AVM model described here is similar to human EAVM in hemodynamics and immunohistochemical features, but there are still some differences in anatomy and pathogenetic mechanism. Further study is needed to evaluate the applicability and efficacy of this model.
Lv, Ming-ming, E-mail: email@example.com [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China)] [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China); Fan, Xin-dong, E-mail: firstname.lastname@example.com [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Radiology (China)] [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Radiology (China); Su, Li-xin, E-mail: email@example.com [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China)] [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China)
Congenital malformations co-occurring with hypospadias in California, 1983-1997.
Investigations for co-occurring malformations can serve as a first step to discover new risk factors and provide insights into malformation etiologies. Our objective was to explore the risks of occurrence of structural congenital malformation phenotypes in 5,481 infants with hypospadias, using data from a population-based active surveillance system. Ascertainment was performed among 1,816,258 liveborn and 12,203 stillborn male offspring of women who were residents of registry counties during 1983-1997. Malformations other than hypospadias were grouped according to the 3- and 4-digit BPA malformation codes. Prevalences of each malformation grouping were calculated among all births with hypospadias and their three subgroups and all births without hypospadias but with another structural malformation. Relative risks were estimated based on the ratio of two prevalences, and the corresponding 95% confidence intervals were computed using Poisson regression models. Observed relative risks indicated that all malformation groupings were less likely to co-occur with hypospadias and their three subgroups than with other types of malformations, with relative risks ranging from 0.04 to 0.93. For most malformations, risks were relatively similar among all births with hypospadias and the three subgroups of hypospadias. The observed relative risks were not substantially changed in analyses that adjusted for maternal age, race/ethnicity, and parity. Computations were extended to 4-digit level BPA codes. Almost all observed relative risks for malformations co-occurring with hypospadias overall and three subgroups were less than 1. PMID:17937439
Yang, Wei; Carmichael, Suzan L; Shaw, Gary M
Diagnosis of true umbilical cord knot
Introduction Many abnormalities are observed in the morphology and pathology of the umbilical cord. The aim of the study was to assess the role of 3D sonography in pathology of true umbilical cord knots. Material and methods In our materials we observed 10 cases of true umbilical cord knots in a population of 2,864 deliveries. The 2-dimensional transverse scan of the umbilical cord was shown in 3- and 4-dimensional volume scan in order to get a precise image. Results Four knots were diagnosed prenatally, 3 knots were not diagnosed before the delivery and in the 3 remaining cases ultrasound examinations were not undertaken because the patients were in the course of delivery. In the pregnant subjects with diagnosed true umbilical cord knot once a week the Doppler blood flow indices were examined in the umbilical cord sections before and after the knot. In the three shown cases there were no signs of constriction or tightening of the knot. Four newborns were delivered spontaneously and five by caesarean section. In none of the cases was a pathological FHR trace an indication for emergency delivery. Conclusions Four-dimensional and Color Doppler examination is very important to diagnose a true umbilical cord. To make a precise diagnosis a longer observation of the abnormality is necessary and its repeated confirmation by color Doppler and power Doppler. This diagnosis requires strict monitoring of fetal wellbeing during pregnancy and the delivery. Perfection of true umbilical cord knot diagnoses may reduce sudden and unforeseen fetal distress.
Kowalczyk, Dariusz; Wiecek, Jacek
Tethered Cord Syndrome: An Updated Review
Tethered cord syndrome (TCS) is a diverse clinical entity characterized by symptoms and signs which are caused by excessive tension on the spinal cord. The majority of cases are related to spinal dysraphism. TCS can present in any age group, and presentations differ according to the underlying pathologic condition and age, with pain, cutaneous signs, orthopedic deformities and neurological deficits
Sean M. Lew; Karl F. Kothbauer
Restoring walking after spinal cord injury
One of the most obvious deficits following a spinal cord injury is the difficulty in walking, forcing many patients to use wheelchairs for locomotion. Over the past decade considerable effort has been directed at promoting the recovery of walking and to find effective treatments for spinal cord injury. Advances in our knowledge of the neuronal control of walking have led
Karim Fouad; Keir Pearson
Costs of spinal cord injury in Australia
Available data on spinal cord injury in Australia has been synthesised. An investigation and discussion has been made into the major financial costs involved in the acute management and ongoing life support systems required by people who have sustained spinal cord injury. The costs are projected to give an estimate of the potential for dollar savings in Australia in reducing
J Walsh
The Development of Spinal Cord Anatomy
A panel illustrating spinal cord injury in The Dying Lioness in the British Museum dates to 650 BC. This paper outlines the subsequent progression of knowledge of the anatomy of the spinal cord. The animal dissections of Galen are considered because his deductions persisted through the Dark Ages until the late 18th century. Anatomy advanced gradually to yield discoveries of
J. M. S. Pearce
Cardiovascular Control After Spinal Cord Injury
Spinal cord injury (SCI) leads to profound haemodynamic changes. Constant outflows from the central autonomic pattern generators modulate the activity of the spinal sympathetic neurons. Sudden loss of communication between these centers and the sympathetic neurons in the intermediolateral thoracic and lumbar spinal cord leads to spinal shock. After high SCI, experimental data demonstrated a brief hypertensive peak followed by
F. A. A. Gondim; A. C. A. Lopes Jr.; G. R. Oliveira; C. L. Rodrigues; P. R. L. Leal; A. A. Santos; F. H. Rola
Family-directed umbilical cord blood banking.
Umbilical cord blood transplantation from HLA-identical siblings provides good results in children. These results support targeted efforts to bank family cord blood units that can be used for a sibling diagnosed with a disease which can be cured by allogeneic hematopoietic stem cell transplantation or for research that investigates the use of allogeneic or autologous cord blood cells. Over 500 patients transplanted with related cord blood units have been reported to the Eurocord registry with a 4-year overall survival of 91% for patients with non-malignant diseases and 56% for patients with malignant diseases. Main hematologic indications in children are leukemia, hemoglobinopathies or inherited hematologic, immunological or metabolic disorders. However, family-directed cord blood banking is not widely promoted; many cord blood units used in sibling transplantation have been obtained from private banks that do not meet the necessary criteria required to store these units. Marketing by private banks who predominantly store autologous cord blood units has created public confusion. There are very few current validated indications for autologous storage but some new indications might appear in the future. Little effort is devoted to provide unbiased information and to educate the public as to the distinction between the different types of banking, economic models and standards involved in such programs. In order to provide a better service for families in need, directed-family cord blood banking activities should be encouraged and closely monitored with common standards, and better information on current and future indications should be made available. PMID:21750089
Gluckman, Eliane; Ruggeri, Annalisa; Rocha, Vanderson; Baudoux, Etienne; Boo, Michael; Kurtzberg, Joanne; Welte, Kathy; Navarrete, Cristina; van Walraven, Suzanna M
Parallel programming in Split-C
The authors introduce the Split-C language, a parallel extension of C intended for high performance programming on distributed memory multiprocessors, and demonstrate the use of the language in optimizing parallel programs. Split-C provides a global address space with a clear concept of locality and unusual assignment operators. These are used as tools to reduce the frequency and cost of remote
A. Krishnamurthy; D. E. Culler; A. Dusseau; S. C. Goldstein; Steven Lumetta; Thorsten von Eicken; Katherine A. Yelick
JSP Splitting for Improving Execution Performance
Splitting a JSP (JavaServer Pages) page into fragments can improve the execution performance of JSP pages when the Web application server can separately cache the Web page fragments obtained by executing the JSP fragments. If a JSP page is split into fragments according to the update frequency of each portion of the Web page obtained by executing the JSP page,
Takuya Nakaike; Goh Kondoh; Hiroaki Nakamura; Fumihiko Kitayama; Shin'ichi Hirose
Cheating More when the Spoils Are Split
ERIC Educational Resources Information Center
Four experiments demonstrated that people are more likely to cheat when the benefits of doing so are split with another person, even an anonymous stranger, than when the actor alone captures all of the benefits. In three of the studies, splitting the benefits of over-reporting one's performance on a task made such over-reporting seem less…
Wiltermuth, Scott S.
Transferring Goods or Splitting a Resource Pool
ERIC Educational Resources Information Center
We investigated the consequences for exchange outcomes of the violation of an assumption underlying most social psychological research on exchange. This assumption is that the negotiated direct exchange of commodities between two actors (pure exchange) can be validly represented as two actors splitting a fixed pool of resources (split pool…
Dijkstra, Jacob; Van Assen, Marcel A. L. M.
Evaluation of Interconnected Power Systems Splitting
Controlled splitting of an interconnected power system is the last defense line against wide-area blackout. As a special protection scheme, the methodology of system splitting is a comprehensive decision-making problem. This article introduces a novel approach for separation of the integrated power systems into several stable islands. The proposed method combines both the dynamic and static characteristics of interconnected power
S. R. Najafi; S. H. Hosseinian; M. Abedi
Therapeutisches Splitting bei der Behandlung der Choledocholithiasis
SummaryTherapeutic Splitting in the Treatment of CholedocholithiasisTreatment of common bile duct stones is feasible by surgical exploration (open or laparoscopically) or by endoluminal retrieval (pre-, intra- or postoperatively). The introduction of laparoscopic cholecystectomy greatly stimulated the routine practice of therapeutic splitting with selective endoscopic retrograde cholangiography and, if necessary, stone removal and consecutive cholecystectomy which is currently the usual approach.
H. Feussner
Regular Splittings and the Discrete Neumann Problem.
National Technical Information Service (NTIS)
Iterative methods are discussed for approximating a solution to a singular but consistent square linear system Ax=b. The methods are based upon splitting A=M-N with M nonsingular. Monotonicity and the concept of regular splittings, introduced by Varga, ar...
R. J. Plemmons
Precision aligned split V-block
A precision aligned split V-block for holding a workpiece during a milling operation having an expandable frame for allowing various sized workpieces to be accommodated, is easily secured directly to the mill table and having key lugs in one base of the split V-block that assures constant alignment.
George, Irwin S. (3240 Siringo Rd., Santa Fe, NM 87501)
Line splitting in the Schumann resonance oscillations
NASA Astrophysics Data System (ADS)
We discuss detection of line splitting in the global electromagnetic (Schumann) resonances. The lifting of resonance degeneracy is usually not visible in the ordinary power spectrum of either the electric or magnetic field components since splitting is small in comparison with the natural width of the resonance lines. Splitting may be detected by exploiting the spatial structure of the fields and/or the elliptical polarization of the magnetic field. The spatial properties were utilized in synchronous and coherent measurements of the vertical electric field at two longitudinally separated observatories. The results were attributed to line splitting. An alternative interpretation was also advanced that takes into account the source-receiver separation. The lifting of degeneracy also appears as a frequency-dependent elliptical polarization of the horizontal magnetic field vector, which has been found experimentally. We compare measurement and computational data, and their reciprocity proves the detection of Schumann resonance line splitting.
Nickolaenko, A. P.; Sentman, Davis D.
Prostate specific antigen in cord blood.
Recent studies have demonstrated the presence of prostate specific antigen (PSA) in cord blood of male as well as female babies. The placental progesterone and estradiol up-regulate the synthesis and secretion of PSA in Placenta. This PSA is presumed to play a role in intrauterine growth of fetus by virtue of its proteolytic action on several substrates including insulin-like-growth-factor-binding-protein-3, insulin chains and Interleukin-2. This study was planned with the objective of correlating the levels of PSA in cord blood to gestation at delivery, the type of delivery and gender of the fetus. Fifty-seven cord blood samples were collected from the umbilical cord during delivery or mid-trimester abortion and analyzed for PSA using 'Active PSA DSL-9700 ultra sensitive' kit employing two-site immuno-radiometric assay principle and having a detection limit of 0.001 ng/ml. Mean PSA levels in cord blood were found to be 0.112 ± 0.027 ng/ml. The concentration of PSA in cord blood was found to be higher in case of higher gestational age, male baby and operative delivery. 50 % of cord bloods for female babies had PSA below detection limit (range <0.001-0.460 ng/ml), while all the male samples had detectable PSA (range 0.11-0.973 ng/ml). Higher Progesterone levels found in prenatal maternal blood in case of male babies may be responsible for the higher cord blood PSA. Mean cord blood PSA was 0.150 ± 0.150 ng/ml in forceps delivery and 0.078 ± 0.012 ng/ml in normal vaginal delivery. Forceps delivery causes much more stress and strain as compared to a normal vaginal delivery, resulting in increased levels of adrenal glucocorticoids, and therefore, higher cord blood PSA. PMID:24082463
Nagar, Renu; Sharma, K K
Spinal cord injury and protection.
Subsequent to traumatic injury of the spinal cord, a series of pathophysiological events occurs in the injured tissue that leads to tissue destruction and paraplegia. These include hemorrhagic necrosis, ischemia, edema, inflammation, neuronophagia, loss of Ca2+ from the extracellular space, and loss of K+ from the intracellular space. In addition, there is trauma-initiated lipid peroxidation and hydrolysis in cellular membranes. Both lipid peroxidation and hydrolysis can damage cells directly; hydrolysis also results in the formation of the biologically active prostaglandins and leukotrienes (eicosanoids). The time course of membrane lipid alterations seen in studies of antioxidant interventions suggests that posttraumatic ischemia, edema, inflammation, and ionic fluxes are the result of extensive membrane peroxidative reactions and lipolysis that produce vasoactive and chemotactic eicosanoids. A diverse group of compounds has been shown to be effective in ameliorating spinal cord injury in experimental animals. These include the synthetic glucocorticoid methylprednisolone sodium succinate (MPSS); the antioxidants vitamin E, selenium, and dimethyl sulfoxide (DMSO); the opiate antagonist naloxone; and thyrotropin-releasing hormone (TRH). With the exception of TRH, all of these agents have demonstrable antioxidant and/or anti-lipid-hydrolysis properties. Thus the effectiveness of these substances may lie in their ability to quench membrane peroxidative reactions or to inhibit the release of fatty acids from membrane phospholipids, or both. Whatever the mode of action, early administration appears to be a requirement for maximum effectiveness. PMID:3927795
Anderson, D K; Demediuk, P; Saunders, R D; Dugan, L L; Means, E D; Horrocks, L A
Innovative solar thermochemical water splitting.
Sandia National Laboratories (SNL) is evaluating the potential of an innovative approach for splitting water into hydrogen and oxygen using two-step thermochemical cycles. Thermochemical cycles are heat engines that utilize high-temperature heat to produce chemical work. Like their mechanical work-producing counterparts, their efficiency depends on operating temperature and on the irreversibility of their internal processes. With this in mind, we have invented innovative design concepts for two-step solar-driven thermochemical heat engines based on iron oxide and iron oxide mixed with other metal oxides (ferrites). The design concepts utilize two sets of moving beds of ferrite reactant material in close proximity and moving in opposite directions to overcome a major impediment to achieving high efficiency--thermal recuperation between solids in efficient counter-current arrangements. They also provide inherent separation of the product hydrogen and oxygen and are an excellent match with high-concentration solar flux. However, they also impose unique requirements on the ferrite reactants and materials of construction as well as an understanding of the chemical and cycle thermodynamics. In this report the Counter-Rotating-Ring Receiver/Reactor/Recuperator (CR5) solar thermochemical heat engine and its basic operating principals are described. Preliminary thermal efficiency estimates are presented and discussed. Our ferrite reactant material development activities, thermodynamic studies, test results, and prototype hardware development are also presented.
Hogan, Roy E. Jr.; Siegel, Nathan P.; Evans, Lindsey R.; Moss, Timothy A.; Stuecker, John Nicholas (Robocasting Enterprises, Albuquerque, NM); Diver, Richard B., Jr.; Miller, James Edward; Allendorf, Mark D. (Sandia National Laboratories, Livermore, CA); James, Darryl L. (Texas Tech University, Lubbock, TX)
Process for photosynthetically splitting water
In one form of the invention, hydrogen is produced by providing a reactor containing a body of water. The water contains photolytic material, i.e., photoactive material containing a hydrogen-catalyst. The interior of the reactor is isolated from atmosphere and includes a volume for receiving gases evolved from the body of water. The photolytic material is exposed to light to effect photosynthetic splitting of the water into gaseous hydrogen and oxygen. The gas-receiving volume is continuously evacuated by pumping to promote evolution of gaseous hydrogen and oxygen into that volume and to withdraw them therefrom. In another form of the invention, separation of the hydrogen and oxygen is effected by selectively diffusing the hydrogen through a heated semipermeable membrane in a separation zone while maintaining across the zone a magnetic field gradient biasing the oxygen away from the membrane. In a third form of the invention, the withdrawn gas is contacted with a membrane blocking flow of water vapor to the region for effecting recovery of the hydrogen. In a fourth embodiment, the invention comprises a process for selectively recovering hydrogen from a gas mixture comprising hydrogen and oxygen. The process is conducted in a separation zone and comprises contacting the mixture with a semipermeable membrane effecting selective diffusion of hydrogen while maintaining across the zone a magnetic field gradient effecting movement of oxygen in a direction away from the membrane.
Greenbaum, E.
Lightweight electrical connector split backshell
NASA Technical Reports Server (NTRS)
An electrical connector split backshell is provided, comprising two substantially identical backshell halves. Each half includes a first side and a cam projecting therefrom along an axis perpendicular thereto, the cam having an alignment tooth with a constant radius and an engagement section with a radius that increases with angular distance from the alignment tooth. Each half further includes a second side parallel to the first side and a circular sector opening disposed in the second side, the circular sector opening including an inner surface configured as a ramp with a constant radius, the ramp being configured to engage with an engagement section of a cam of the other half, the circular sector opening further including a relieved pocket configured to receive an alignment tooth of the cam of the other half. Each half further includes a back side perpendicular to the first and second sides and a wire bundle notch disposed in the back side, the wire bundle notch configured to align with a wire bundle notch of the other half to form a wire bundle opening. The two substantially identical halves are rotatably coupled by engaging the engagement section of each half to the ramp of the other half.
Goldman, Elliot (Inventor)
CORD - a WDMA optical network: subcarrier-based signaling and control scheme
NASA Astrophysics Data System (ADS)
CORD (COntention Resolution using Delay lines) is a 2.5-Gb/s/ Lambda wavelength-division multiple-access (WDMA) packet-switched network experiment. We experimentally demonstrated the simultaneous transmission of a 2.5-Gb/s packet-switched payload data and an 80-Mb/s control channel using the multichannel subcarrier multiplexing (MSCM) signaling scheme with 3 and 3.5 GHz subcarriers. We optimized the control channel modulation depth at the transmitter to 0.4, and the splitting ratio to a 90/10 payload data/control channel split at the receiver, to obtain the optimal receiver sensitivity of - 12.9 dBm.
Lu, Chung-Li; Sabido, Delfin Jay M.; Poggiolini, Pierluigi; Hofmeister, R. Theodore; Kazovsky, Leonid G.
Effect of the central canal in the spinal cord on fluid movement within the cord.
Computational studies are used to demonstrate the effect of oscillating CSF flow on pressures within the spinal cord. We tested the hypothesis that the central canal in the spinal cord affects spinal cord pressure gradients resulting from oscillatory CSF flow. Two computational models of the spinal cord were created with the same dimensions. Model 1 had a homogeneous porous structure. Model 2 had the same structure with the addition of a central fluid filled space, representing the central canal of the cord. We simulated oscillatory flow in the fluid space using standard computational fluid dynamics tools. For all phases of the CSF flow cycle and for specific projections through the model we calculated pressure gradients and fluid movement in the cord models. Pressures in the models varied through the flow cycle. Model 1 had linearly varying pressure along its long axis that varied with the cycle and had no pressure gradients across the cord. Model 2 had nonlinear varying pressure along its long axis varying with the time in the cycle and had transient centrifugal and centripetal pressure gradients with a central fluid space. The radial pressures varied linearly with distance from the fluid space. Centrifugal and centripetal pressure gradients resulted in radially directed fluid flow in the cord. The central canal within the spinal cord alters the pressure fields occurring during oscillatory CSF flow and creates centrifugal and centripetal fluid flux in the cord. PMID:24199820
Drřsdal, Ida N; Mardal, Kent-Andre; Střverud, Karen; Haughton, Victor
Isolation of mesenchymal stem cells from equine umbilical cord blood
BACKGROUND: There are no published studies on stem cells from equine cord blood although commercial storage of equine cord blood for future autologous stem cell transplantations is available. Mesenchymal stem cells (MSC) have been isolated from fresh umbilical cord blood of humans collected non-invasively at the time of birth and from sheep cord blood collected invasively by a surgical intrauterine
Thomas G Koch; Tammy Heerkens; Preben D Thomsen; Dean H Betts
An Unusual Presentation of Type II Abernethy Malformation.
Abernethy malformation is a rare anomaly of the splanchnic venous system. We report a case of an unusual portosystemic shunt via a dilated inferior mesenteric vein. A 20-year-old woman was referred to our hospital with complains of nonspecific abdominal pain for almost 3 years and hematochezia since 15 months old. Computed tomography and further transhepatic splenoportography revealed a hypoplastic portal vein and a giant inferior mesenteric vein, via which part of the portal venous blood drained into the inferior vena cava. The patient underwent a surgical ligation of the portocaval shunt and recovered well. We believe that this is the first case of type II Abernethy malformation presenting as a portosystemic shunt via the giant inferior mesenteric vein. PMID:24530574
Lu, Jingbo; Lin, Zhiqi; Liu, Hao; Liu, Zhengjun
Arteriovenous malformation of the mandible and parotid gland.
Arteriovenous malformations (AVMs) of the jaws are relatively rare, with fewer than 200 cases reported in the literature. Their real importance lies in their potential to result in exsanguination, which usually follows an unrelated treatment, such as tooth extraction, surgical intervention, puncture wound or blunt injury in involved areas, with the dentist unaware of the existence of the AVM. The present case illustrates an AVM in an 18-year-old female with swelling on the right side of the face. This case report is unique because although there was no history of bleeding episodes, thorough examination and investigation diagnosed it as high-flow vascular malformation. We ascertain the importance of dentists' awareness of the fatal outcome of these lesions and emphasize that, prior to performing any procedure, necessary investigations should always be done. PMID:22282511
Shailaja, S R; Manika; Manjula, M; Kumar, L V
Arteriovenous malformation of the mandible and parotid gland
Arteriovenous malformations (AVMs) of the jaws are relatively rare, with fewer than 200 cases reported in the literature. Their real importance lies in their potential to result in exsanguination, which usually follows an unrelated treatment, such as tooth extraction, surgical intervention, puncture wound or blunt injury in involved areas, with the dentist unaware of the existence of the AVM. The present case illustrates an AVM in an 18-year-old female with swelling on the right side of the face. This case report is unique because although there was no history of bleeding episodes, thorough examination and investigation diagnosed it as high-flow vascular malformation. We ascertain the importance of dentists' awareness of the fatal outcome of these lesions and emphasize that, prior to performing any procedure, necessary investigations should always be done.
Shailaja, S R; Manika; Manjula, M; Kumar, L V
Resection of pontine cavernous malformation through the pontomedullary sulcus.
In this video, we illustrate a right far-lateral craniotomy for resection of a 13-mm cavernous malformation of the pons in a healthy 53-year-old female patient presenting with diplopia and right 6th nerve palsy. The cavernous malformation was surrounded by normal pons, but was within 1 mm of the pontomedullary sulcus. The lesion was exposed from below through a far lateral craniotomy and accessed through the vasoaccessory triangle, superior to olivary nucleus and 12th cranial nerve. The alternative retrosigmoid craniotomy would have involved significant transgression of the middle cerebellar peduncle. The patient had gross-total resection and some temporary increase in her abducens nerve palsy without any complication. The video can be found here: http://youtu.be/8nOnrnTk3Tg . PMID:24380516
Abla, Adib Adnan; Clark, Aaron J; Lawton, Michael L
Repression and splitting in the psychoanalytic process.
The authors examine the concepts of repression and splitting and their interplay during the psychoanalytic process. Initially, repression was introduced by the clinical phenomenon of resistance, leading to the formulation of the association between intrapsychic conflicts and neurotic symptoms. Later, repression was linked to normal development and to personality organization. Splitting, on the other hand, has been defined in quite diverse ways. The two main definitions are of splitting within the ego, and splitting of representations of the self, and of internal and external objects. Repression and splitting are compared developmentally, dynamically, and with respect to their relationship to psychic functioning and energic conditions. Clinical material is presented from the analysis of a patient who presented with borderline personality organization and narcissistic features. During the initial phase of analysis, splitting associated with projection, projective identification and idealization were the main defence mechanisms. As the analysis progressed and the themes of omnipotence and mourning were explored with the simultaneous working through of drive derivatives expressed in the transference, repression gained ground over the more primitive defence mechanisms. The evolution of the case showed a gradual shift from splitting to repression and the association of repression with a more advanced psychic organization. This development reflected the dynamic movement from borderline to hysterical organization in psychoanalytic nosology. PMID:21323879
Savvopoulos, Savvas; Manolopoulos, Sotiris; Beratis, Stavroula
Pharmacological approaches to chronic spinal cord injury.
Although research on neural tissue repair has made enormous progress in recent years, spinal cord injury remains a devastating condition for which there is still no cure. In fact, recent estimates of prevalence in the United States reveal that spinal cord injury has undergone a five-fold increase in the last decades. Though, it has become the second most common neurological problem in North America after Alzheimer's disease. Despite modern trauma units and intensive care treatments, spinal cord injury remains associated with several comorbid conditions and unbearable health care costs. Regular administration of a plethora of symptomatic drug treatments aimed at controlling related-secondary complications and life-threatening problems in chronic spinal cord-injured patients has recently been reported. This article provides a thorough overview of the main drug classes and products currently used or in development for chronic spinal cord injury. Special attention is paid to a novel class of drug treatment designed to provide a holistic solution for several chronic complications and diseases related with spinal cord injury. There is clear evidence showing that new class can elicit 'on-demand' episodes of rhythmic and stereotyped walking activity in previously completely paraplegic animals and may consequently constitute a simple therapy against several physical inactivity-related comorbid problems. Understanding further pharmacological approaches to chronic spinal cord injury may improve both life expectancy and overall quality of life while reducing unsustainable cost increases associated with this debilitation condition. PMID:23360274
Steuer, Inge; Rouleau, Pascal; Guertin, Pierre A
Spinal vascular malformations in non-perimesencephalic subarachnoid hemorrhage
Objective\\u000a In patients with non-traumatic subarachnoid hemorrhage (SAH) and no evidence for a cerebral aneurysm on angiography, a frequent\\u000a cause of the hemorrhage is perimesencephalic hemorrhage or other cerebral vascular pathology. In some patients no cause is\\u000a found. The exact incidence of a spinal vascular malformation (SVM) as the origin for the SAH is not known. We assessed the\\u000a occurrence
M. R. Germans; F. A. Pennings; M. E. S. Sprengers; W. P. Vandertop
Novel Image-Guided Management of a Uterine Arteriovenous Malformation
The investigators present a novel image-guided embolization, not previously described, of a uterine arteriovenous malformation (AVM) resistant to endovascular management. The uterus was exposed surgically, and Histoacryl (Braun, Fulda, Germany) was injected directly into the nidus using ultrasound guidance and fluoroscopy. The patient had a successful full-term pregnancy after this procedure. This technique may be a useful alternative management strategy in patients with uterine AVM who fail traditional endovascular embolization and who still desire fertility.
Przybojewski, Stefan J., E-mail: email@example.com; Sadler, David J. [University of Calgary, Diagnostic Imaging Department, Foothills Hospital (Canada)
Fetal Facial Defects: Associated Malformations and Chromosomal Abnormalities
During an 8-year period, facial defects were observed in 146 (7%) of the 2,086 fetuses that underwent karyotyping in our unit because of fetal malformations and\\/or growth retardation. Chromosomal abnormalities were detected in 37 of 56 (66%) fetuses with micrognathia, in 10 of 13 (77%) with macroglossia, in 31 of 64 (48 %) with cleft lip and palate, in 5
K. H. Nicolaides; D. R. Salvesen; R. J. M. Snijders; C. M. Gosden
Hypersexuality from resection of left occipital arteriovenous malformation
The authors report their experience on one patient with hypersexuality from resection of left occipital arteriovenous malformation.\\u000a To the best of our knowledge, this is the first case reported in the literature. A 35-year-old right-handed female farmer\\u000a suffered a sudden left occipital hemorrhage with subarachnoid and subdural hemorrhages of the left hemisphere. Transient left\\u000a uncal herniation occurred at the onset
Yong Cao; Zhaohui Zhu; Rong Wang; Shuo Wang; Jizong Zhao
Sleep apnea and the Arnold-Chiari malformation.
We present a polysomnogram-documented report of central sleep apnea (427 events) and moderately severe decreases in arterial oxygen saturation (to 81%) associated with the Arnold-Chiari malformation (ACM). Daytime hypersomnolence and other symptoms had significantly impaired our patient's work performance. After surgical correction of the ACM, there was marked improvement in symptomatology. A post-surgery polysomnogram revealed marked improvement in the number of central apneas (74 events) and only mild decreases in oxygen saturation (to 94%). PMID:4051328
Balk, R A; Hiller, F C; Lucas, E A; Scrima, L; Wilson, F J; Wooten, V
Skeletal malformations associated with esophageal atresia: Clinical and experimental studies
Background\\/Purpose: Patients with esophageal atresia (EA) often have skeletal malformations. The purpose of this study is to examine if similar defects occur in rat fetuses prenatally exposed to Adriamycin, a chemical capable of causing EA in these animals.Methods: The charts of 443 babies with EA were reviewed to assess the incidence and nature of these defects in them. Time-mated female
Huimin Xia; Lucia Migliazza; Sandra Montedonico; Jose I. Rodriguez; Juan A. Diez-Pardo; Juan A. Tovar
Congestive hepatopathy secondary to large renal arteriovenous malformation.
A 75-year-old woman presented with acute onset dyspnoea, and was found to have signs of pulmonary congestion on clinical examination. Imaging revealed cardiomegaly and coincident congestive hepatopathy, secondary to a left renal arteriovenous malformation. The presence of a high flow vascular shunt in the left kidney was possibly the causative factor behind both the high-output cardiac failure and congestive hepatopathy. PMID:23349173
Khalife, Mohammad; Faraj, Walid; Salah, Fatima; Haydar, Ali A
Anomalous unilateral single pulmonary vein mimicking pulmonary arteriovenous malformation.
Anomalies involving the pulmonary vein are so rare that most of them have been reported as a case or a series of several cases. Some of them often simulate pulmonary arteriovenous malformation (AVM), and patients undergo pulmonary angiography for embolization. Herein we report a case of anomalous unilateral single pulmonary vein that was confirmed on pulmonary angiography after initial diagnosis of pulmonary AVM on contrast medium-enhanced chest computed tomography. PMID:23989502
Hyun, Dongho; Do, Young Soo; Lim, Seong Joo; Park, Hong Suk; Park, Kwang Bo
A randomized trial of unruptured brain arteriovenous malformations (ARUBA)
Despite almost a century of efforts in the treatment of brain arteriovenous malformations (BAVMs) no clinical trial has yet\\u000a been performed to demonstrate the benefits of intervention versus conservative (medical) management for those not yet bled.\\u000a Only insufficient information on the natural history of unbled BAVMs exists to certify that intervention is needed and that\\u000a such intervention produces a better
J. P. Mohr
Biocontrol potential of Trichoderma species against mango malformation pathogens
Malformation disease of Mango (Mangifera indica L.) caused by Fusarium moniliforme var. subglutinans is one of the most destructive diseases, which is a major production constraint in the mango-growing regions of India. In this study, The bioagents Trichoderma viride (Tr1), Trichoderma virens (Tr2) and Trichoderma harzianum (Tr3) were evaluated in culture with the pathogens to monitor the antagonistic effect and
Pradeep Kumar; Ashok Kumar Misra; Dinesh Raj Modi; Vijai Kumar Gupta
NASA Technical Reports Server (NTRS)[figure removed for brevity, see original site] Released 23 September 2003A 22 km-diameter crater has been sliced by the tectonic forces that produced the rift known as Sirenum Fossae. The orientation of this rift is roughly radial to the great Tharsis volcano Arsia Mons, probably indicating a link between the formation of the rift and the volcano. Note how the rift cuts through a jumble of mounds on the floor of the crater. This indicates a sequence of events beginning with the formation of the crater followed by an infilling of material that was then eroded into the mounds and ultimately split open by the shifting martian crust.Image information: VIS instrument. Latitude -29.7, Longitude 211.7 East (148.3 West). 19 meter/pixel resolution.Note: this THEMIS visual image has not been radiometrically nor geometrically calibrated for this preliminary release. An empirical correction has been performed to remove instrumental effects. A linear shift has been applied in the cross-track and down-track direction to approximate spacecraft and planetary motion. Fully calibrated and geometrically projected images will be released through the Planetary Data System in accordance with Project policies at a later time. NASA's Jet Propulsion Laboratory manages the 2001 Mars Odyssey mission for NASA's Office of Space Science, Washington, D.C. The Thermal Emission Imaging System (THEMIS) was developed by Arizona State University, Tempe, in collaboration with Raytheon Santa Barbara Remote Sensing. The THEMIS investigation is led by Dr. Philip Christensen at Arizona State University. Lockheed Martin Astronautics, Denver, is the prime contractor for the Odyssey project, and developed and built the orbiter. Mission operations are conducted jointly from Lockheed Martin and from JPL, a division of the California Institute of Technology in Pasadena.
Stem cell therapy for the spinal cord.
ABSTRACT: Injury and disease of the spinal cord are generally met with a poor prognosis. This poor prognosis is due not only to the characteristics of the diseases but also to our poor ability to deliver therapeutics to the spinal cord. The spinal cord is extremely sensitive to direct manipulation, and delivery of therapeutics has proven a challenge for both scientists and physicians. Recent advances in stem cell technologies have opened up a new avenue for the treatment of spinal cord disease and injury. Stem cells have proven beneficial in rodent models of spinal cord disease and injury. In these animal models, stem cells have been shown to produce their effect by the dual action of cell replacement and the trophic support of the factors secreted by these cells. In this review we look at the main clinical trials involving stem cell transplant into the spinal cord, focusing on motor neuron diseases and spinal cord injury. We will also discuss the major hurdles in optimizing stem cell delivery methods into the spinal cord. We shall examine current techniques such as functional magnetic resonance imaging guidance and cell labeling and will look at the current research striving to improve these techniques. With all caveats and future research taken into account, this is a very exciting time for stem cell transplant into the spinal cord. We are only beginning to realize the huge potential of stem cells in a central nervous system setting to provide cell replacement and trophic support. Many more trials will need to be undertaken before we can fully exploit the attributes of stem cells. PMID:22776143
Donnelly, Eleanor M; Lamanna, Jason; Boulis, Nicholas M
Stem cell therapy for the spinal cord
Injury and disease of the spinal cord are generally met with a poor prognosis. This poor prognosis is due not only to the characteristics of the diseases but also to our poor ability to deliver therapeutics to the spinal cord. The spinal cord is extremely sensitive to direct manipulation, and delivery of therapeutics has proven a challenge for both scientists and physicians. Recent advances in stem cell technologies have opened up a new avenue for the treatment of spinal cord disease and injury. Stem cells have proven beneficial in rodent models of spinal cord disease and injury. In these animal models, stem cells have been shown to produce their effect by the dual action of cell replacement and the trophic support of the factors secreted by these cells. In this review we look at the main clinical trials involving stem cell transplant into the spinal cord, focusing on motor neuron diseases and spinal cord injury. We will also discuss the major hurdles in optimizing stem cell delivery methods into the spinal cord. We shall examine current techniques such as functional magnetic resonance imaging guidance and cell labeling and will look at the current research striving to improve these techniques. With all caveats and future research taken into account, this is a very exciting time for stem cell transplant into the spinal cord. We are only beginning to realize the huge potential of stem cells in a central nervous system setting to provide cell replacement and trophic support. Many more trials will need to be undertaken before we can fully exploit the attributes of stem cells.
Field by field hybrid upwind splitting methods
NASA Technical Reports Server (NTRS)
A new and general approach to upwind splitting is presented. The design principle combines the robustness of flux vector splitting schemes in the capture of nonlinear waves and the accuracy of some flux difference splitting schemes in the resolution of linear waves. The new schemes are derived following a general hybridization technique performed directly at the basic level of the field by field decomposition involved in FDS methods. The scheme does not use a spatial switch to be tuned up according to the local smoothness of the approximate solution.
Coquel, Frederic; Liou, Meng-Sing
Photoinduced water splitting with oxotitanium tetraphenylporphyrin.
Photocatalytic splitting of water was investigated in a heterogeneous system consisting of micro-crystallites of oxotitanium tetraphenylporphyrin deposited on fused silica plates, immersed in water and excited within the visible range of their absorption spectra. The water photolysis was evidenced by the spectroscopic detection of hydroxyl radicals generated in the reaction. The experimental results confirm the mechanism of water splitting and generation of OH? radicals proposed theoretically by Sobolewski and Domcke [Phys. Chem. Chem. Phys., 2012, 14, 12807] for the oxotitaniumporphyrin-water complex. It is shown that photocatalytic water splitting occurs in pure water, and neither pH-bias nor external voltage is required to promote the reaction. PMID:24938429
Morawski, O; Izdebska, K; Karpiuk, E; Nowacki, J; Suchocki, A; Sobolewski, A L
Sonographic markers for early diagnosis of fetal malformations
Fetal malformations are very frequent in industrialized countries. Although advanced maternal age may affect pregnancy outcome adversely, 80%-90% of fetal malformations occur in the absence of a specific risk factor for parents. The only effective approach for prenatal screening is currently represented by an ultrasound scan. However, ultrasound methods present two important limitations: the substantial absence of quantitative parameters and the dependence on the sonographer experience. In recent years, together with the improvement in transducer technology, quantitative and objective sonographic markers highly predictive of fetal malformations have been developed. These markers can be detected at early gestation (11-14 wk) and generally are not pathological in themselves but have an increased incidence in abnormal fetuses. Thus, prenatal ultrasonography during the second trimester of gestation provides a "genetic sonogram", including, for instance, nuchal translucency, short humeral length, echogenic bowel, echogenic intracardiac focus and choroid plexus cyst, that is used to identify morphological features of fetal Down's syndrome with a potential sensitivity of more than 90%. Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies. In the future, sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis (amniocentesis, etc.).
Renna, Maria Daniela; Pisani, Paola; Conversano, Francesco; Perrone, Emanuele; Casciaro, Ernesto; Renzo, Gian Carlo Di; Paola, Marco Di; Perrone, Antonio; Casciaro, Sergio
The incidence of obesity in pregnancy has increased over the past two decades, with nearly 50% of U.S. women aged 15–49 are classified as overweight or obese. Obesity (independent of diabetes) among gravidae poses unique risks which extend towards the fetus, with several large population-based analyses demonstrating independent increased risks for fetal malformations including neural tube defects, cardiac anomalies, and orofacial clefts as well as stillbirth and macrosomia. Unfortunately, several lines of evidence also suggest that the quality of the prenatal fetal anatomic survey and certain aspects of prenatal diagnostic screening programs are significantly limited. The net effect is that among obese gravidae, the increased risk of fetal anomalies is further offset by a concomitant diminished ability to sonographically detect such malformation in the prenatal interval. The purpose of this summary review is to systematically examine the evidence suggesting an increased risk of fetal malformations in obese gravidae, the contributing role of diabetes, and the limitations of prenatal diagnostic and sonographic screening among this at-risk population.
RACUSIN, Diana; STEVENS, Blair; CAMPBELL, Genevieve; AAGAARD-TILLERY, Kjersti
Peripheral vascular malformations: imaging, treatment approaches, and therapeutic issues.
Peripheral vascular malformations are now described according to some accepted guidelines, and the principle of proper treatment (nidus ablation) is becoming clear. An appropriate classification scheme for vascular anomalies and definite indications for treatment are important to successful treatment overall. The findings from noninvasive imaging (ie, Doppler ultrasonography, computed tomography, or magnetic resonance imaging) in association with clinical findings are critical in establishing the diagnosis, evaluating the extent of the malformation, and planning appropriate treatment. Direct opacification of the nidus is useful, not only in making a correct diagnosis, but also in treating the lesion with sclerotherapy. In most cases, conservative treatment is recommended, but when a patient suffers clinical complications (eg, ulceration, pain, hemorrhage, cardiac failure, or unacceptable cosmetic consequences), the nidus sclerotherapy becomes mandatory. If the vascular malformation has blood outflow to a drainage vein during nidus opacification, flow control (with balloon occlusion, tourniquet, or embolization) is necessary to achieve sclerosant stasis within the nidus. Embolotherapy (with a coil, n-butyl cyanoacrylate, or small particles) should be used for subsequent multifaceted palliative therapy. A multi-disciplinary approach is needed in the treatment of a high-flow lesion, and a dedicated team approach is necessary for appropriate management in most cases. PMID:16227489
Hyodoh, Hideki; Hori, Masakazu; Akiba, Hidenari; Tamakawa, Mitsuharu; Hyodoh, Kazusa; Hareyama, Masato
[Cortical malformations and epilepsy: Role of MR imaging].
Malformations of cortical development are increasingly recognized as important causes of epilepsy, developmental delay and other neurological disorders. Our purpose is to present the relevance of the MRI in these pathologies with the clinical, genetic and therapeutic aspects. This classification is based on the three fundamental events of cortical formation: proliferation of neurons and glie in the periventricular zone, migration of postmitotic neurons to the periphery, subsequent cortical organization. MR analysis evaluates particularly the cortical thickness, sulcal and cortical morphology, gray-white matter junction, and looks for gray matter in abnormal location. These data coupled with the familial history, the seizure characteristics and genetic findings should allow an appropriate classification of the lesions. MR imaging allows the detection and classification of cortical malformations. MR imaging findings are primordial to consider surgery when the epilepsy becomes refractory to the anti-epileptic drugs. An adequate classification of these malformations should help to provide to the family an appropriate counseling both in terms of genetics and outcome. PMID:17095957
Cottier, J P; Toutain, A; Hommet, C; Sembely, C; Bosq, M; Texier, N; Herbreteau, D; Sirinelli, D
Nanomedicine for treating spinal cord injury.
Spinal cord injury results in significant mortality and morbidity, lifestyle changes, and difficult rehabilitation. Treatment of spinal cord injury is challenging because the spinal cord is both complex to treat acutely and difficult to regenerate. Nanomaterials can be used to provide effective treatments; their unique properties can facilitate drug delivery to the injury site, enact as neuroprotective agents, or provide platforms to stimulate regrowth of damaged tissues. We review recent uses of nanomaterials including nanowires, micelles, nanoparticles, liposomes, and carbon-based nanomaterials for neuroprotection in the acute phase. We also review the design and neural regenerative application of electrospun scaffolds, conduits, and self-assembling peptide scaffolds. PMID:23945984
Tyler, Jacqueline Y; Xu, Xiao-Ming; Cheng, Ji-Xin
Infertility Treatment and Umbilical Cord Length-Novel Markers of Childhood Epilepsy?
Background Epilepsy is one of the most common neurologic disorders of childhood, affecting about 0.4?0.8% of all children up to the age of 20. Methodology A population-based retrospective cohort study. Aim was to determine incidence and identify perinatal and reproductive risk factors of epilepsy in children born between 1989 and 2008 among women (n?=?43,389) delivered in Kuopio University Hospital. Risk factors of childhood epilepsy were determined by using logistic regression analysis. Principal Findings The incidence of childhood epilepsy was 0.7% (n?=?302 of 43,389). Maternal epilepsy, major congenital anomalies and use of assisted reproductive technology (ART) were associated with 4.25-, 3.61-, and 1.67- fold increased incidence of childhood epilepsy. A 10 cm increase in umbilical cord length was associated with a 15% decrease in the incidence of epilepsy (adjusted OR 0.85, 95% CI 0.78?0.94). However, the above reproductive factors accounted for less than 2% of total incidence, whereas maternal epilepsy proved to be the highest risk factor. Conclusions Perinatal and reproductive factors were shown to be minor risk factors of childhood epilepsy, implying that little can be done in obstetric care to prevent childhood epilepsy. Infertility treatment and umbilical cord length, independent of gestational age and congenital malformations, may be novel markers of childhood epilepsy.
Harju, Maija; Gissler, Mika; Keski-Nisula, Leea; Kalviainen, Reetta; Heinonen, Seppo
To identify special characteristics of the pediatric spinal cord-injured (SCI) population, we analyzed a database of 1,770 traumatic SCI patients; 88 (5%) fell into the two pediatric subgroups: 0-12 years (n = 26) and 13-15 years (n = 62) at time of injury. Differences between age groups were identified with regard to demographics, neurologic characteristics, associated injuries and complications, and management. Mode level of bony injury was C2 in preteens, C4 in teens, and C4-C5 in adults. Scoliosis developed far more frequently in children, particularly preteens (23%), than in adults (5%). Violent etiologies, predominantly gunshots, accounted for a disproportionate share of injuries to preteens (19%) and African-Americans (28%), as compared with adults (12%) and Caucasians (7%). This last finding underscores the urgent need to mount a response to the nationwide proliferation of gunshot-related SCI in children and minorities. PMID:7729113
Apple, D F; Anson, C A; Hunter, J D; Bell, R B
Fitness and Spinal Cord Injuries
Activity for many disabled persons often begins as therapy, but the additional rewards derived from exercise must be appreciated. Public attitudes toward disabled persons have changed during the last few decades, recently focusing on abilities rather than on disabilities. The family physician of patients with spinal cord injuries will assist in managing acute medical problems and the association with loss of some degree of physical capacity. Physicians also can guide these individuals to choose a life that remains active and interesting over a "house-bound," but safe, existence. Sensitivity and timing play key roles in establishing exercise as an intergral part of a disabled individuals' altered lifestyle. The physician can advocate increased access to wheelchairs and other facilities that make life easier for disabled individuals. ImagesFigure 1Figure 2Figure 3Figure 4
Mackie, J. William; McCormack, Rebecca; Campbell, Duncan
Outcome after incomplete spinal cord injury: central cord versus Brown-Sequard syndrome
Study design:A retrospective analysis of prospectively collected data.Objective:A hemisection of the spinal cord is a frequently used animal model for spinal cord injury (SCI), the corresponding human condition, that is, the Brown-Sequard syndrome (BS), is relatively rare as compared with the central cord syndrome (CC). The time course of neurological deficit, functional recovery, impulse conductivity and rehabilitation length of stay
M Wirz; B Zörner; R Rupp; V Dietz
Spinal Cord Injury Medicine. 3. Rehabilitation Phase After Acute Spinal Cord Injury
Kirshblum SC, Priebe MM, Ho CH, Scelza WM, Chiodo AE, Wuermser LA. Spinal cord injury medicine. 3. Rehabilitation phase after acute spinal cord injury.This self-directed learning module highlights the rehabilitation aspects of care for people with traumatic spinal cord injury (SCI). It is part of the chapter on SCI medicine in the Self-Directed Physiatric Education Program for practitioners and trainees
Steven C. Kirshblum; Michael M. Priebe; Chester H. Ho; William M. Scelza; Anthony E. Chiodo; Lisa-Ann Wuermser
Identification of a c.601C>G mutation in the CCM1 gene in a kindred with multiple skin, spinal and cerebral cavernous malformations.
Cerebral cavernous malformations (CCM) are congenital vascular anomalies predominantly of the central nervous system but may include lesions in other tissues such as the retina, skin, and liver. These hamartomatous dysplasias, generally occurring sporadically, consist of dynamic clustered convoluted capillary cavities without intervening brain parenchyma that may lead to headaches, seizures, paresis, cerebral hemorrhages and focal neurological deficits. Familial forms of CCM, inherited in an autosomal dominant manner with incomplete penetrance and variable expression, are attributed to mutations in three genes, CCM1, CCM2 and CCM3. Here, we report a kindred of Persian descent exhibiting a range of clinical symptoms and features that include seizures, multiple lesions of the brain and spinal cord, and severe hyperkeratotic cutaneous capillary-venous malformations. Sanger DNA sequencing and deletion/duplication testing of the CCM1, CCM2, and CCM3 genes in the proband revealed a CCM1 c.601C>G mutation. Targeted mutation analysis in family members confirmed that this mutation segregated with the disease in the family. This family illustrates the phenotypic heterogeneity that has been observed in other reported CCM-pedigrees and highlights the importance of genetic testing for early diagnosis in familial CCM. To our knowledge, this is the first genetic investigation of CCM in the Persian population. PMID:24007869
Haghighi, Alireza; Fathi, Davood; Shahbazi, Majid; Motahari, Mohammad-Mahdy; Friedman, Bethany
High Performance Split-Stirling Cooler Program.
National Technical Information Service (NTIS)
This report describes the physical characteristics of the final design configuration of the 1 Watt Split-Stirling Cryogenic Cooler. Qualification testing included evaluation of the 1.0 Watt Cryogenic Cooler under the following conditions: Performance test...
R. P. Meeker
Split-Hopkinson Pressure Bar Tests.
National Technical Information Service (NTIS)
This report summarizes work conducted on the split-Hopkinson pressure bar (SHPB). The SHPB was modified to permit both tensile and compressive testing on cementitious materials. Direct tension tests were performed on concrete by cementing the specimen to ...
C. A. Ross
Strength of Wood Beams with End Splits.
National Technical Information Service (NTIS)
A method of analysis for determining crack propagation loads on wood beams with end splits is presented. The method is based on (1) linear elastic orthotropic fracture mechanics concepts, (2) theory of complex variables, and (3) least squares boundary val...
J. F. Murphy
Hydrogen productivity by photosynthetic water splitting.
National Technical Information Service (NTIS)
This paper reviews recent progress in the field of hydrogen production by photosynthetic water splitting for both in vitro and in vivo systems. Absolute thermodynamic efficiencies of conversion of light energy into energy of molecular hydrogen by intact m...
E. Greenbaum
Divided Opinions on the Split Fovea
ERIC Educational Resources Information Center
We explain once again the distinction between the "split fovea theory" and the "bilateral projection theory", and consider the implications of the two theories for understanding the processing of centrally fixated words and faces.
Ellis, Andrew W.; Brysbaert, Marc
Modal Split in the Japanese Passenger Transport.
National Technical Information Service (NTIS)
The modal split in the Japanese long distance passenger transport as well as its reasons and impacts are examined. Especially the competition between automobile and train and between train and airplane is thouroughly analyzed because the competition in Ja...
D. Eberlein
Dynamics of a Split Torque Helicopter Transmission.
National Technical Information Service (NTIS)
Split torque designs, proposed as alternatives to traditional planetary designs for helicopter main rotor transmissions, can save weight and be more reliable than traditional designs. This report presents the results of an analytical study of the system d...
T. L. Krantz
Surgical management of scalp arterio-venous malformation and scalp venous malformation: An experience of eleven cases
Aims: Scalp arterio-venous malformation (AVM) and scalp venous malformation (SVM) are rare conditions that usually need surgical treatment. Here, we have reported our experience of the surgical management of such lesions with a short review of the literature. Materials and Methods: In this prospective study, 11 patients with scalp AVM and SVM, who underwent surgical excision of lesion in our hospital from 2006 to 2012, were included. All suspected high-flow AVM were investigated with the selective internal and external carotid digital subtraction angiogram (DSA) ± computed tomography (CT) scan of brain with CT angiogram or magnetic resonance imaging (MRI) of brain with MR angiogram, and all suspected low-flow vascular malformation (VM) was investigated with MRI of brain + MR angiogram. Eight were high-flow and three were low-flow VM. Results: All lesions were successfully excised. Scalp cosmetic aspects were acceptable in all cases. There was no major post-operative complication or recurrence till last follow-up. Conclusions: With preoperative appropriate surgical planning, scalp AVM and SVM can be excised without major complication.
Chowdhury, Forhad Hossain; Haque, Mohammod Raziul; Kawsar, Khandkar Ali; Sarker, Mainul Haque; Momtazul Haque, A. F. M.
Bill malformations in double-crested cormorants with low exposure to organochlorines
Eight of 20 newly hatched double-crested cormorants (Phalacrocorax auritus), captured at Dore Lake (Saskatchewan, Canada) and raised in captivity, developed malformed bills when they were 2 to 3 weeks old. Malformation was characterized by abnormal flexure and rotation of the maxilla and mandible, resulting in a crossed bill. By radiography, the premaxillary and dental bones were misshapen. Morphologically similar malformed bills in free-living comorants have been attributed to exposure to polyhalogenated aromatic hydrocarbons. However, the concentrations of total PCBs in the livers of these captive cormorants with malformed bills and in their diet were lower than have been previously associated with such malformations and were considered too low to have been the cause. The bill malformations may have been caused by deficiency of vitamin D{sub 3}, because the cormorants were kept indoors without exposure to ultraviolet light and were fed frozen fish that may have been deficient in this vitamin.
Kuiken, T.; Fox, G.A.; Danesik, K.L.
Mondini Malformation Associated With Diastematomyelia and Presenting With Recurrent Meningitis
The authors report the case of 5-year-old girl who presented with 4 episodes of recurrent meningitis. Her initial workup revealed a lumbosacral dermoid sinus associated with diastematomyelia and a tethered cord. Therefore, a surgical repair to correct the anomaly was performed. However, another episode of meningitis occurred after surgery, and a subsequent temporal bone scan revealed the presence of left
Amira Masri; Faris G. Bakri; Ralf Birkenhäger; Abeer Alassaf; Awni F. Musharbash; Azmy Haroun; Imad Zak
An Improved Particle Filter with Particle Splitting
Particle filter (PF) is widely used in nonlinear\\/non-Gaussion environments to solve the simultaneous localization and mapping (SLAM) problem. But the standard PF suffers a lot from the sample impoverishment after resampling. This paper introduces a particle splitting technique before the resampling process, called pre-resampling. This method splits particles with big importance weight into several particles with small importance weight. The
Tao Xu; Zhiqiang Wei; Bo Yin; Jing Cao
Visual attention in split-brain monkeys
How the separated hemispheres of a split-brain animal avoid conflict with each other remains uncertain. In some circumstances both hemispheres seem to be able to attend to separate stimuli simultaneously1,2. Yet, when a split-brain animal has received separate training in each hemisphere on visual discrimination tasks which require opposite solutions, and is then placed in a situation where either hemisphere
J. J. Wright; M. D. Craggs
The Splitting of Branes on Orientifold Planes
Continuing the study in hep-th\\/0004092, we investigate a non-trivial string dynamical process related to orientifold planes, i.e., the splitting of physical NS-branes and D(p+2)-branes on orientifold Op-planes. Creation or annihilation of physical Dp-branes usually accompanies the splitting process. In the particular case p = 4, we use Seiberg-Witten curves as an independent method to check the results.
Gaetano Bertoldi; Bo Feng; Amihay Hanany
Wave-equation shear wave splitting tomography
The main focus of this paper is the development of a theoretical framework for the tomographic\\u000ainversion of (broad-band) shear wave splitting measurements in terms of anisotropic structure\\u000ain the upper mantle. We show that the partial differential equations (PDEs) that govern wave\\u000aequation shearwave splitting tomography are, upon linearization with the Born approximation,\\u000asimilar in structure to the equations
Maureen D. Long; Maarten V. de Hoop; Robert D. van der Hilst
Transplant Outcomes (Bone Marrow and Cord Blood)
... Advanced Search A-Z Index | Questions? | Order Publications BC Home Transplant Resources Donor Information Cord Blood Information ... Units for Research Donor Registry Data Citation Guidelines BC Home > Research, Data, & Outcomes > Transplant Outcomes & Data > Transplant ...
Interactive Fly: CNS and Ventral Cord Genes
NSDL National Science Digital Library
A list and description of Drosophila genes involved in CNS and ventral cord formation, subdivided by family and cellular location (i.e., antennapedia family or cell surface ligands). A subset of the Interactive Fly collection.
PhD Thomas B Brody (NIH Laboratory of Neurochemistry)
Brain and Spinal Cord Tumors in Adults
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Brain and Spinal Cord Tumors in Children
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Learn if You Can Donate Cord Blood
... Volunteer Search Email this page Print this page Learn if you can donate cord blood Tweet Join a community transplanting hope. Give . Join . Volunteer . Learn . Twitter Pinterest Facebook LinkedIn YouTube Flickr Back to ...
The use of antiseptic treatment during cord care varies from unit to unit. Although it may reduce bacterial colonisation it may also delay cord separation. Where antiseptic treatment is used there is uncertainty as to the best agent. Hexachlorophane powder (0.3%) and 4% chlorhexidene detergent were each compared with dry cord care as a control on a two ward maternity unit in a six month open study. Of 133 infants treated with hexachlorophane 44 (33%) became heavily colonised with Staphylococcus aureus compared with 80 (47%) of 171 controls; a reduction of one third. Chlorhexidene reduced colonisation by more than half; 17 (16%) of 104 compared with 41 (42%) of 98 controls. Chlorhexidene was associated with cord attachment at 10 days in 29 (28%) infants compared with 31 of 515 (6%) infants when it was not used. Hexachlorophane was more acceptable to the nursing staff. The reduction in colonisation with the two compounds was largely due to the suppression of cross infection.
Verber, I G; Pagan, F S
Learn if You Can Donate Cord Blood
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Acetylcholinesterase Inhibitors on the Spinal Cord.
National Technical Information Service (NTIS)
This report describes studies on organophosphorus (OP) inhibitors of acetylcholinesterase (AChE) in the mammalian spinal cord in which the mechanism and site of action of the OPs on synaptic transmission were studied with selective agonists and antagonist...
J. E. Warnick
Probing Students' Epistemologies Using Split Tasks
NSDL National Science Digital Library
Do students really believe the physical principles they learn in class? To explore this question, we gave an FCI "split" task in which students indicated the answers they think a scientist would give and also indicated the answers they really believe. To interpret the splits that students indicated between what they believe and what they were taught, we interviewed students about why they split. It turns out that a split does not indicate that the student disbelieves the scientist's answer. The splits actually arose for other reasons, one of which was students indicating a discrepancy between what they were taught and what makes sense to them. For this and other reasons, we devised a new split task focused on these discrepancies between "what makes sense" and what a scientist would say. The results of this new experiment, including validation interviews, will be discussed briefly. Evidence suggests that students are more willing to reconcile physics concepts with their everyday experience if epistemological development is an explicit goal of instruction.
Mccaskey, Timothy L.; Elby, Andrew
Klippel-trénaunay syndrome with intracranial arteriovenous malformation: a rare presentation.
Klippel-Trénaunay syndrome (KTS) is a rare vascular congenital anomaly affecting less than 200,000 people in the United States. Vascular malformations associated with KTS tend to affect slow flow systems: venous, capillary, and lymphatic systems. The nature of the syndrome leads to a higher risk for the development of arteriovenous malformations. Our case presentation describes a patient with KTS and an associated rare presentation of intraventricular arteriovenous malformation (AVM). PMID:24653849
Sadiq, Mahniya F; Shuaib, Waqas; Tiwana, Muhammad H; Johnson, Jamlik-Omari; Khosa, Faisal
Dural sinus malformation with arteriovenous fistulae in a newborn: positive outcome following endovascular management.
Dural sinus malformation (DSM) is an extremely rare and congenital cerebrovascular malformation that is associated with dural arteriovenous fistula and a large dural lake, which may mimic the clinical malformations of an infantile dural arteriovenous shunt or the vein of Galen. Early diagnosis and treatment of DSM is crucial in order to avoid irreversible brain injuries or heart failure. Here, we report an unusual case of extensive DSM that showed good clinical and angiographic results after endovascular embolization. PMID:22240537
Liu, Chien-An; Chen, Hung-Chieh; Luo, Chao-Bao; Guo, Wan-Yuo; Mu-Huo Teng, Michael; Chen, Hsin-Hung; Chang, Cheng-Yen
Klippel-Tr?naunay Syndrome with Intracranial Arteriovenous Malformation: A Rare Presentation
Klippel-Trénaunay syndrome (KTS) is a rare vascular congenital anomaly affecting less than 200,000 people in the United States. Vascular malformations associated with KTS tend to affect slow flow systems: venous, capillary, and lymphatic systems. The nature of the syndrome leads to a higher risk for the development of arteriovenous malformations. Our case presentation describes a patient with KTS and an associated rare presentation of intraventricular arteriovenous malformation (AVM).
Sadiq, Mahniya F.; Tiwana, Muhammad H.; Johnson, Jamlik-Omari; Khosa, Faisal
How preventable are spinal cord injuries?
In order to determine how many spinal cord injuries are preventable in this country, and how effective a prevention campaign is likely to be, the causes of injury were analysed in 250 consecutive patients admitted to The Duke of Cornwall Spinal Treatment Centre in Salisbury. The results show that many spinal cord injuries are preventable, and the findings support the theory that a programme of prevention similar to that in Australia is urgently required. PMID:10116894
Peach, F; Grundy, D
Power and phase spectra for detonating cord
A simple mathematical model is presented for a detonating cord seismic source. This model can be used for most configurations of detonating cord. Power and phase spectra are calculated. Numerical results are presented for a straight strand detonated in the center. Time delays associated with the initiation of vertically travelling energy at low frequencies can be determined from the phase spectra. 2 references, 5 figures.
Burkhard, N.R.
Cord blood for allogeneic and autologous banking
Allogeneic transplantations of haematopoietic stem cells derived from cord blood have become a clinical routine. Applications\\u000a are successful in malignant and non-malignant diseases, with high engraftment capacities and, compared to bone marrow stem\\u000a cell transplantations, less strict human leucocyte antigen-match criteria. A major concern in using haematopoietic stem cells\\u000a from cord blood is the relatively low number of stem cells
Carolyn Troeger; Irene Hösli; Wolfgang Holzgreve
Replacement of split-pin assemblies in nuclear reactors
This patent describes a pin-insertion/torque tool for the replacement of old split-pin assemblies. Each of the new split-pin assemblies including a new split-pin having times and a new nut for securing the new split pin in the guide tube, a new nut being inserted in the guide tube in position to receive a split pin. The the pin-insertion/torque tool including a blade means for engaging a new split pin with the blade with the tines of the new split pins straddling the blade, means, connected to the blade, for advancing the split-pin into the guide tube into threading engagement with the new nut positioned to receive a new split pin and means, to be connected to the nut for securing the new nut onto the new split pin while the split pin is engaged by the blade.
Nee, J.D.; Green, R.A.
Frequencies of magnetic patch processes on the supergranule boundary, namely, flux emergence, splitting, merging, and cancellation, are investigated through automatic detection. We use a set of line-of-sight magnetograms taken by the Solar Optical Telescope (SOT) on board the Hinode satellite. We found 1636 positive patches and 1637 negative patches in the data set, whose time duration is 3.5 hr and field of view is 112'' Multiplication-Sign 112''. The total numbers of magnetic processes are as follows: 493 positive and 482 negative splittings, 536 positive and 535 negative mergings, 86 cancellations, and 3 emergences. The total numbers of emergence and cancellation are significantly smaller than those of splitting and merging. Further, the frequency dependence of the merging and splitting processes on the flux content are investigated. Merging has a weak dependence on the flux content with a power-law index of only 0.28. The timescale for splitting is found to be independent of the parent flux content before splitting, which corresponds to {approx}33 minutes. It is also found that patches split into any flux contents with the same probability. This splitting has a power-law distribution of the flux content with an index of -2 as a time-independent solution. These results support that the frequency distribution of the flux content in the analyzed flux range is rapidly maintained by merging and splitting, namely, surface processes. We suggest a model for frequency distributions of cancellation and emergence based on this idea.
Iida, Y.; Yokoyama, T. [Department of Earth and Planetary Science, University of Tokyo, Hongo, Bunkyo-ku, Tokyo 113-0033 (Japan); Hagenaar, H. J. [Lockheed Martin Advanced Technology Center, Org. ADBS, Building 252, 3251 Hanover Street, Palo Alto, CA 94304 (United States)
Retinoic acid signaling in spinal cord development.
Retinoic acid (RA) is an important signaling molecule mediating intercellular communication through vertebrate development. Here, we present and discuss recent information on the roles of the RA signaling pathway in spinal cord development. RA is an important player in the patterning and definition of the spinal cord territory from very early stages of development, even before the appearance of the neural plate and further serves a role in the patterning of the spinal cord both along the dorsoventral and anteroposterior axes, particularly in the promotion of neuronal differentiation. It is thus required to establish a variety of neuronal cell types at specific positions of the spinal cord. The main goal of this review is to gather information from vertebrate models, including fish, frogs, chicken and mice, and to put this information in a comparative context in an effort to visualize how the RA pathway was incorporated into the evolving vertebrate spinal cord and to identify mechanisms that are both common and different in the various vertebrate models. In doing so, we try to reconstruct how spinal cord development has been regulated by the RA signaling cascade through vertebrate diversification, highlighting areas which require further studies to obtain a better understanding of the evolutionary events that shaped this structure in the vertebrate lineage. PMID:23579094
Lara-Ramírez, Ricardo; Zieger, Elisabeth; Schubert, Michael
Oropharyngeal approach as a surgical alternative for cervical lymphatic malformation with airway compression.
Cervical lymphatic malformation is an infrequent benign congenital malformation of the lymphatic system, whose rapid growing capacity can compromise the airway. Here we present a 3-month-old male with severe respiratory impairment showing pharyngeal, cervical and mediastinal lymphatic malformation. Transoral surgery maintaining the mucosa allowed removal of numerous cystic lumps occupying the whole pharynx up to the pyriform sinus, surrounding the common carotid artery. Postsurgical MRI showed that the pharynx portion of the lymphatic malformation had disappeared. We conclude that the oropharyngeal approach is an alternative to the classical external surgery involving upper respiratory tract compression. PMID:24837867
Díaz-Manzano, José Antonio; Pelegrín-Hernández, Juan Pablo; Mínguez-Merlos, Nieves; Cegarra-Navarro, María Francisca
Major Congenital Malformations in Barbados: The Prevalence, the Pattern, and the Resulting Morbidity and Mortality
Objectives. To study the prevalence and the pattern of major congenital malformations and its contribution to the overall perinatal morbidity and mortality. Methods. It is a retrospective population based study. It includes all major congenital malformations in newborns during 1993-2012. The data was collected from the birth register, the neonatal admission register and the individual patient records at the Queen Elizabeth Hospital where over 90% of deliveries take place and it is the only facility for the care of sick newborns in this country. Results. The overall prevalence of major congenital malformations among the live births was 59/10,000 live births and that among the stillbirths was 399/10,000 stillbirths. Circulatory system was the most commonly affected and accounted for 20% of all the major congenital malformations. Individually, Down syndrome (4.1/10, 000 live births) was the commonest major congenital malformation. There was a significant increase in the overall prevalence during the study period. Major congenital malformations were responsible for 14% of all neonatal death. Conclusions. Less than 1% of all live newborns have major congenital malformations with a preponderance of the malformations of the circulatory system. Major congenital malformations contribute significantly to the overall neonatal morbidity and mortality in this country.
Singh, Keerti; Krishnamurthy, Kandamaran; Greaves, Camille; Kandamaran, Latha; Nielsen, Anders L.; Kumar, Alok
Hysteroscopic diagnosis and successful management of an acquired uterine arteriovenous malformation by percutaneous embolotherapy
Arteriovenous malformations are a rare but important cause of abnormal uterine bleeding in the midlife. Acquired uterine arteriovenous malformations are being increasingly diagnosed by transvaginal ultrasound, color Doppler and magnetic resonance angiography. We present a case where the suspected diagnosis was placental polyp or retained products of conception and hysteroscopy showed typical findings of uterine arteriovenous malformation, which was later, confirmed by magnetic resonance angiography. The patient underwent arterial embolization and recovered satisfactorily with resolution of hemorrhage and resumption of normal menstrual cycles. Abnormal bleeding due to arteriovenous malformations is worsened by curettage and hence its recognition is important in the management of abnormal uterine bleeding in the midlife.
Chittawar, Priya B.; Patel, Kailash; Agrawal, Pallavi; Bhandari, Shilpa
Type I Arnold-Chiari malformation with bronchiectasis, respiratory failure, and sleep disordered breathing: a case report.
Arnold Chiari Malformation (ACM) is defined as a condition where part of the cerebellar tissue herniates into the cervical canal toward the medulla and spinal cord resulting in a number of clinical manifestations. Type I ACM consists of variable displacement of the medulla throughout the formamen magnum into the cervical canal, with prominent cerebellar herniation.Type I ACM is characterized by symptoms related to the compression of craniovertebral junction, including ataxia, dysphagia, nistagmus, headache, dizziness, and sleep disordered breathing. We report a case of a life-long non-smoker, 54 years old woman who presented these symptoms associated with bronchiectasis secondary to recurrent inhalation pneumonia, hypercapnic respiratory failure, and central sleep apnea (CSA).CSA was first unsuccessfully treated with nocturnal c-PAP. The subsequent treatment with low flow oxygen led to breathing pattern stabilization with resolution of CSA and related clinical symptoms during sleep. We suggest that in patients with type I ACM the presence of pulmonary manifestations aggravating other respiratory disturbances including sleep disordered breathing (SDB) should be actively investigated. The early diagnosis is desirable in order to avoid serious and/or poorly reversible damages. PMID:23433005
Campisi, Raffaele; Ciancio, Nicola; Bivona, Laura; Di Maria, Annalisa; Maria, Giuseppe Di
Type I Arnold-Chiari malformation with bronchiectasis, respiratory failure, and sleep disordered breathing: a case report
Arnold Chiari Malformation (ACM) is defined as a condition where part of the cerebellar tissue herniates into the cervical canal toward the medulla and spinal cord resulting in a number of clinical manifestations. Type I ACM consists of variable displacement of the medulla throughout the formamen magnum into the cervical canal, with prominent cerebellar herniation. Type I ACM is characterized by symptoms related to the compression of craniovertebral junction, including ataxia, dysphagia, nistagmus, headache, dizziness, and sleep disordered breathing. We report a case of a life-long non-smoker, 54 years old woman who presented these symptoms associated with bronchiectasis secondary to recurrent inhalation pneumonia, hypercapnic respiratory failure, and central sleep apnea (CSA). CSA was first unsuccessfully treated with nocturnal c-PAP. The subsequent treatment with low flow oxygen led to breathing pattern stabilization with resolution of CSA and related clinical symptoms during sleep. We suggest that in patients with type I ACM the presence of pulmonary manifestations aggravating other respiratory disturbances including sleep disordered breathing (SDB) should be actively investigated. The early diagnosis is desirable in order to avoid serious and/or poorly reversible damages.
Optimal elastic cord assistance for sprinting in collegiate women soccer players.
Overspeed exercises are commonly integrated into a training program to help athletes perform at a speed greater than what they are accustomed to when unassisted. However, the optimal assistance for maximal sprinting has not been determined. The purpose of this study was to determine the optimal elastic cord assistance for sprinting performance. Eighteen collegiate women soccer players completed 3 testing sessions, which consisted of a 5-minute warm-up, followed by 5 randomized experimental conditions of 0, 10, 20, 30, and 40% body weight assistance (BWA). In all BWA sessions, subjects wore a belt while attached to 2 elastic cords and performed 2 maximal sprints under each condition. Five minutes of rest was given between each sprint attempt and between conditions. Split times (0-5, 5-10, 10-15, 15-20, and 0-20 yd) for each condition were used for analysis. Results for 0-20 yd demonstrated a significant main effect for condition. Post hoc comparisons revealed that as BWA increased, sprint times decreased up to 30% BWA (0%: 3.20 ± 0.12 seconds; 10%: 3.07 ± 0.09 seconds; 20%: 2.96 ± 0.07 seconds; 30%: 2.81 ± 0.08 seconds; 40%: 2.77 ± 0.10 seconds); there was no difference between 30 and 40% BWA. There was also a main effect for condition when examining split times. Post hoc comparisons revealed that as BWA increased, sprint times decreased up to 30% BWA for distances up to 15 yd. These results demonstrate that 30% of BWA with elastic cords appears optimal in decreasing sprint times in collegiate women soccer players for distances up to 15 yd. PMID:21478764
Bartolini, J Albert; Brown, Lee E; Coburn, Jared W; Judelson, Daniel A; Spiering, Barry A; Aguirre, Nick W; Carney, Keven R; Harris, Kenten B
Factors affecting umbilical venous perfusion during experimental cord knotting.
The aim was to determine experimentally the factors that increase the risk of venous occlusion by applying a standardised tightening force to isolated perfused umbilical cords tied in a true knot in vitro. Umbilical cords were collected from patients undergoing Caesarean section. Cords were clamped, isolated and studied within 15 min. The umbilical vein was cannulated, the cord tied in a true knot and traction was applied using standard weights. The umbilical vein was perfused with modified Krebs solution at a constant pressure of 40 mmHg and the attached weight increased until perfusion ceased. The cord mass index (weight/length), hydration index/100-[(dry weight/wet weight)x100], and coiling index (coils/length) were determined. Cord morphometric analysis was performed on 193 cords. Intra uterine growth restriction was associated with decreased cord mass index (p=0.002) and increased coiling index (p=0.002). Venous perfusion experiments were performed on 75 cords. Using multivariate regression analysis, cord morphometric factors that increased the risk of cord occlusion were decreased cord mass index (p=0.008), decreased cord hydration index (p=0.004), and low venous flow capacity (p=0.001). During experimental cord knotting with applied traction, the susceptibility to venous occlusion was increased with low cord mass index, low cord hydration index and low venous flow capacity. These cord characteristics were associated with low fetal body weight and intrauterine growth restriction. An increased susceptibility to cord occlusion may contribute to the higher perinatal morbidity and mortality in growth restricted pregnancies. PMID:16226125
Tuxen, A J; Permezel, M; Walker, S P; Georgiou, H M
Fas and FasL expression in the spinal cord following cord hemisection in the monkey.
The changes of endogenous Fas/FasL in injured spinal cord, mostly in primates, are not well known. In this study, we investigated the temporal changes in the expression of Fas and FasL and explored their possible roles in the ventral horn of the spinal cord and associated precentral gyrus following T(11) spinal cord hemisection in the adult rhesus monkey. A significant functional improvement was seen with the time going on in monkeys subjected to cord hemisection. Apoptotic cells were also seen in the ventral horn of injured spinal cord with TUNEL staining, and a marked increase presents at 7 days post operation (dpo). Simultaneously, the number of Fas and FasL immunoreactive neurons in the spinal cords caudal and rostral to injury site and their intracellular optical density (OD) in the ipsilateral side of injury site at 7 dpo increased significantly more than that of control group and contralateral sides. This was followed by a decrease and returned to normal level at 60 dpo. No positive neurons were observed in precentral gyrus. The present results may provide some insights to understand the role of Fas/FasL in the spinal cord but not motor cortex with neuronal apoptosis and neuroplasticity in monkeys subjected to hemisection spinal cord injury. PMID:21181266
Jia, Liu; Yu, Zou; Hui, Li; Yu-Guang, Guan; Xin-Fu, Zhou; Chao, You; Yanbin, Xiyang; Xi, Zhan; Jun, Wang; Xin-Hua, Heng; Xin-Hua, Hen; Ting-Hua, Wang
Neurogenic bladder model for spinal cord injury: spinal cord microdialysis and chronic urodynamics
We describe an animal model to study neurotransmitter changes in parallel with urodynamic testing following Spinal Cord Injury (SCI). Urodynamic access was achieved using a subcutaneously placed 7 French dual lumen portacatheter. Spinal cord injury was induced by weight drop technique onto exposed dura at T8. The L6-S1 detrusor nuclei were localized stereotactically and microdialysis probe placement was confirmed through
Christopher P Smith; George T Somogyi; Erin T Bird; Michael B Chancellor; Timothy B Boone
Spinal cord transplants enhance the recovery of locomotor function after spinal cord injury at birth
Fetal spinal cord transplants placed into the site of a neonatal spinal cord lesion alter the response of immature CNS neurons to injury. The transplants prevent the retrograde cell death of immature axotomized neurons and support the growth of axons into and through the site of injury. In the present experiments we used a battery of locomotor tasks to determine
E. Kunkel-Bagden; B. S. Bregman
CNV analysis in monozygotic twin pairs discordant for urorectal malformations.
Early post-twinning mutational events can account for discordant phenotypes in monozygotic (MZ) twin pairs. Such mutational events may comprise genomic alterations of different sizes, ranging from single nucleotides to large copy-number variations (CNVs). Anorectal malformations (ARM) and the bladder exstrophy-epispadias complex (BEEC) represent the most severe end of the urorectal malformation spectrum. Recently, CNV studies in patients with sporadic ARM and the BEEC have identified de novo events that occur in specific chromosomal regions. We hypothesized that early arising, post-twinning CNVs might contribute to discordance in MZ twin pairs with ARM or the BEEC; knowledge of such CNVs might help to identify additional chromosomal regions involved in the development of these malformations. We investigated four discordant MZ twin pairs (three ARM and one BEEC) using molecular karyotyping arrays comprising 1,140,419 markers with a median marker spacing of 1.5 kb. Filtering the coding regions for possible disease-causing post-twinning de novo CNVs present only in the affected twin, but not in the unaffected twin or the parents, identified a total of 136 CNVs. These 136 CNVs were then filtered against publicly available databases and finally re-evaluated visually. No potentially causative CNV remained after applying these filter criteria. Our results suggest that post-twinning CNV events that affect coding regions of the genome did not contribute to the discordant phenotypes in MZ twin pairs that we investigated. Possible causes for the discordant phenotypes include changes in regulatory elements or smaller genetic changes within coding regions which may be detectable by whole-exome sequencing. PMID:23659922
Baudisch, Friederike; Draaken, Markus; Bartels, Enrika; Schmiedeke, Eberhard; Bagci, Soyhan; Bartmann, Peter; Nöthen, Markus M; Ludwig, Michael; Reutter, Heiko
Spin-orbit splitting of the first excited state of the F center is ; estimated in the simple effective-mass approximation. The splitting due to the ; outermost orbitals of the atoms neighboring the vacancy in the crystal is related ; to the splitting of the p state in the free atom. As an example, spin-orbit ; splitting of the F center