Results 101 to 110 of about 1,555,246 (206)

Pregnancy outcome in joint hypermobility syndrome and Ehlers–Danlos syndrome

, 2017
IntroductionAn increased risk of preterm birth in women with joint hypermobility syndrome or Ehlers-Danlos syndrome is suspected. Material and methodsIn this nationwide cohort study from 1997 through 2011, women with either joint hypermobility syndrome ...
Jonas F. Ludvigsson, Sundelin, Heléne,, Olof Stephansson, Stephansson, Olof,, Johansson, Kari,, Ludvigsson, Jonas F.,, Heléne E. K. Sundelin, Kari Johansson, Sundelin, Helene E. K.,   +8 more
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Kyphoscoliotic Ehlers-Danlos syndrome due to a novel homozygous PLOD1 variant: severe vascular involvement and molecular diagnosis

BMC Medical Genomics
Background Kyphoscoliotic Ehlers-Danlos syndrome (kEDS, OMIM: #225400) is a rare subtype of Ehlers-Danlos syndrome characterized by joint hypermobility and spinal deformity, with occasional vascular complications.
Yan Yu, Yimo Zeng, Yingdi Liu, Yaning Liu, Qingxin Shi, Huimin Zhu, Juan Wen, Desheng Liang, Zhuo Li, Lingqian Wu   +9 more
doaj   +1 more source

The Novel Association of a Single Nucleotide Variant in the COL3A1 Gene with Diffuse Coronary Aneurysms

Current Issues in Molecular Biology
The COL3A1 gene, encoding the pro-alpha chain of type III collagen, has been implicated in a range of collagen-mediated diseases such as Ehlers–Danlos syndrome and aortic aneurysms.
Charlene Norgan Radler, Kevin Ku, Alison Hodge, Tianci Wang, Peyton Moore, Mohanakrishnan Sathyamoorthy   +5 more
doaj   +1 more source

Ehlers-Danlos syndrome Type VI : Case report

, 1998
Ehlers-Danlos sendromu bağ dokusunun genetik geçiş gösteren bir hastalığıdır. Burada, eklem gevşekliği, deri bulguları gibi sendromun temel bulgularının yanısıra belirgin kifoskolyozunun da olması nedeniyle Ehlers-Danlos tip VI tanısı almış, anne ve ...
Ferda Özkınay, Galip Sarı, Özgür Çoğulu, Mahmut Çoker, Cihangir Özkınay, Ayşe Yenigün, Cumhur Gündüz   +6 more
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Ehlers-Danlos syndrome associated with fatal spontaneous vascular rupture in a dog

, 2015
A 7-month-old male cross breed dog was presented with hyperextensible skin and atrophic scarring. A diagnosis of Ehlers-Danlos syndrome was made based on clinical signs, histopathology and electron microscopy.
Ressel L, Ressel, L, Verin R, Buckley, L, McEwan, N, Uri M, Verin, R, Buckley L, McEwan M, Uri, M   +9 more
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Palmoplantar contractures in childhood:a rare complication of vascular Ehlers-Danlos syndrome

, 2013
Although catastrophic vascular complications in vascular Ehlers-Danlos Syndrome (EDS) are well recognized, other complications such as flexion contractures and tendon nodules are rarely reported and poorly characterized.
Pollitt, R, Taylor, A E M, Sobey, G, Foulkes, A C, Pope, F M   +4 more
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Retrospective descriptive study of prevalence of symptoms of suspected connective tissue disease: focus on Ehlers-Danlos syndrome

openLo studio analizzerà la prevalenza di sintomi nella Sindrome di Ehlers Danlos cercando di descrivere eventuali sintomi maggiormente significativi per la ...
CALLEGARI, DAVIDE
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A Critical Analysis of the Perioperative Management of Patients with Ehlers Danlos Type IV (Vascular) Syndrome

, 2017
This paper discusses the perioperative care needs of patients with Ehlers Danlos type IV (vascular) syndrome. Ehlers Danlos syndrome (EDS) is a heritable group of connective tissue disorders characterised by varying degrees of tissue, blood vessel and ...
J Martin
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The Haploinsufficient Col3a1 Mouse as a Model for Vascular Ehlers-Danlos Syndrome

, 2010
Vascular Ehlers-Danlos syndrome is a rare genetic disorder resulting from mutations in the α-1 chain of type III collagen ( COL3A1) and manifesting as tissue fragility with spontaneous rupture of the bowel, gravid uterus, or large or medium arteries ...
W. Briest, Tae, H-J., H. C. Dietz, R. Schubert, L. A. Myers, Schubert, Rudolf, Q. Zhong, G. A. Müller, H-J. Tae, Dietz, H. C., T. K. Cooper, Myers, L. A., M. Krawczyk, Briest, W., M. I. Talan, Talan, M. I., Müller, G. A., Zhong, Q., Krawczyk, M., Cooper, T. K.   +19 more
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Abdominal complications of vascular Ehlers-Danlos syndrome

Acta Biomedica Scientifica
Ehlers-Danlos syndrome (EDS) is a rare genetic disorder that affects the synthesis and function of collagen. The vascular type (vEDS) is one of the most severe variants of the disease, associated with high mortality rates due to the development of life ...
V. N. Stalmakhovich, A. A. Dyukov, R. A. Teschuk   +2 more
doaj   +1 more source