نتایج جستجو برای: سندرم ehlers
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Arterial dissection is uncommon in young adults and there are usually underlying causes. This report describes 2 young patients with vascular complications after trivial injury who were diagnosed to have Ehlers-Danlos syndrome. One patient died while the other remains in a stable condition. Early clinical recognition of this syndrome is necessary so as to prevent mortality and reduce morbidity.
A 22-year-old woman with type I Ehlers-Danlos syndrome had severe radicular pain in the lower back. A laterally herniated lumbar disk was seen on myelography. Pain and walking improved after lumbar laminectomy. A chronic focal seizure disorder was associated with CT evidence of a congenital structural defect of the brain.
Osteogenesis imperfecta, Ehlers-Danlos syndrome, and Marfan syndrome form a group of genetic disorders of connective tissue. These disorders exhibit remarkable clinical heterogeneity which reflects their underlying biochemical and molecular differences. Defects in collagen types I and III have been found in all three syndromes.
Wilhelmina Strasheim, Marleen M. Kock, Andries W. Dreyer and Marthie M. Ehlers Department of Medical Microbiology, Faculty of Health Science, University of Pretoria, Private Bag x323, Arcardia Pretoria, 0007, Gauteng, South Africa Department of Medical Microbiology, Faculty of Health Science, University of Pretoria, National Health Laboratory Services, Tshwane Academic division (NHLS/TAD), Gaut...
Isolated visceral arteriopathies of the celiac and hepatic artery are rare. We present a case of a Caucasian man who presented with abdominal pain and was found to have a spontaneous celiac artery dissection. Genetic analysis revealed a mutation consistent with Ehlers-Danlos syndrome type IV. The patient died 2 months later from a spontaneous rupture of his hepatic artery.
Clairin’s method of obtaining Bäcklund transformations is applied to Einstein’s field equations for the interior of a uniformly rotating stationary axisymmetric perfect fluid. It is shown that for arbitrary pressure p and mass density μ the method does not give non-trivial Bäcklund transformations, while if μ+3p = 0 it gives the transformation of Ehlers. PACS number(s): 04.20.Jb, 04.20.Ex
We describe two patients with associations of hereditary neuropathies and heritable skeletal disorders not previously reported. The first patient had Marfan's syndrome and hereditary motor and sensory neuropathy Type 1. The second patient had Ehlers-Danlos syndrome, Klippel-Feil syndrome and tomaculous neuropathy.
How are the responses to distinct chemical features integrated to form an olfactory perceptual object? In this issue of Neuron, Davison and Ehlers show that individual piriform cortex neurons receive convergent input from up to 10% of main olfactory bulb glomeruli and are activated by specific spatial patterns of coactive glomeruli.
Kristen (Coen) Cruz Phil Baranski Anna Lard Dean Curosmith Michael Vitale Brandy Lee Hatcher Shannon G. Bicknell Will Pruett Julianna Brei Crawley Cambria Larson Matthew Jackson Jenny Jacobs Ashley Boehne Ehlers Michelle McDougall Jackson Jeff Whetstone Sarah Guadalupe Hosner Ryan Neely Matt McNally Anne Hitt Penn Ross Jackson Amanda Novoa Ian Daelucian Amber Julian Gabrielle Koizumi Sammy Brow...
Amniotic bands are described in two children with Ehlers-Danlos syndrome type IV and in one with severe osteogenesis imperfecta. Since the basic defect in both of these disorders rests in collagen, which constitutes the main component of the load bearing amnion, it is proposed that these cases provide further insight into the pathogenesis of amniotic bands.
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