Results 1 to 10 of about 11,578 (199)

Familial hepatic rupture in vascular Ehlers–Danlos syndrome in pregnancy with atypical thromboses [PDF]

JRSM Open, 2023
Lesson This case highlights the importance of genetic testing over fibroblast testing and presents the first published thromboelastometry data in vascular Ehlers–Danlos syndrome.
Jesal Patel, Cai Neville, Raj Kumar, Elisabeth Grey-Davies, Renata Hutt, Fleur S. van Dijk, Li Yuan Chan, Edward Walter   +7 more
doaj   +2 more sources

Percutaneous transhepatic coil embolisation of a common hepatic artery aneurysm in vascular Ehlers–Danlos syndrome [PDF]

CVIR Endovascular
Background Vascular Ehlers–Danlos syndrome is a rare connective tissue disorder characterised by arterial fragility, predisposing patients to life-threatening vascular complications. Endovascular aneurysm management in these individuals poses significant
Oliver Chan, Hariesha Pathmaraj, Chris Grieco, Nadeem Shaida   +3 more
doaj   +2 more sources

A de novo variant of the COL3A1 gene: causality of vascular Ehlers-Danlos syndrome [PDF]

Advances in Laboratory Medicine
To establish diagnosis of vascular Ehlers-Danlos syndrome (VEDS) through genetic testing. This syndrome is characterized by muscle and arterial ruptures and a tendency to easy brusing, thin skin with visible veins and acrogeric facial features that may ...
Gutiérrez Romero Estrella, Padilla Apuntate Nuria, Izquierdo Álvarez Silvia   +2 more
doaj   +2 more sources

Vascular Ehlers-Danlos Syndrome

Journal of the American College of Cardiology, 2019
International ...
Anne Legrand, Tristan Mirault, Juliette Albuisson   +2 more
exaly   +3 more sources

Iliac artery aneurysm endoleak management in a patient with vascular Ehlers-Danlos syndrome [PDF]

Journal of Vascular Surgery Cases and Innovative Techniques
Endovascular repair has traditionally been avoided in patients with connective tissue disorders. We describe successful treatment of multiple endoleaks of an expanding common iliac artery aneurysm previously treated with an endograft in a patient with ...
Mitri K. Khoury, MD, Matthew J. Eagleton, MD   +1 more
doaj   +2 more sources

Multidisciplinary hybrid approach to management of a thoracoabdominal aneurysm in a patient with both Loeys-Dietz and vascular Ehlers-Danlos syndrome [PDF]

Journal of Vascular Surgery Cases and Innovative Techniques
Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome are genetic aortopathies that result from abnormal collagen matrix formation associated with vascular complications and early death.
Nicolas A. Stafforini, MD, Nallely Saldana-Ruiz, MD, MPH, Scott DeRoo, MD, Ulrike Schwarze, MD, Matthew P. Sweet, MD, Sara L. Zettervall, MD, MPH   +5 more
doaj   +2 more sources

Vascular Ehlers-Danlos syndrome

Revista Portuguesa de Cardiologia, 2022
Marta Marques
doaj   +3 more sources

The vascular type of Ehlers–Danlos syndrome

Анналы клинической и экспериментальной неврологии, 2017
EhlersDanlos syndrome (EDS) type IV (vascular type of EDS)is a rare inherited autosomal dominant connective-tissue disordercaused by a mutation in the procollagen III gene (the COL3A1gene).
Maria V. Gubanova, Larisa A. Dobrynina, Lyudmila A. Kalashnikova   +2 more
doaj   +2 more sources

Pulmonary Mycobacterium avium complex infection with vascular Ehlers–Danlos syndrome: A case report [PDF]

Respiratory Medicine Case Reports
A female patient developed multiple intestinal perforations at 31 and 43 years of age. Because of her family history of pneumothorax and intestinal perforation, Ehlers–Danlos syndrome (EDS) was suspected when she visited our hospital at 52 years. She was
Ken Okamura, Rintaro Noro, Toru Tanaka, Takeru Kashiwada, Yosuke Tanaka, Yoshinobu Saito, Kazue Fujita, Koichi Akutsu, Tomoko Sahara, Koichiro Kamio, Takeshi Yamada, Kazuo Kasahara, Masahiro Seike   +12 more
doaj   +2 more sources

Anaesthetic Implications of Vascular Type Ehlers-Danlos Syndrome [PDF]

Anaesthesia and Intensive Care, 2006
Vascular type Ehlers-Danlos syndrome is an inherited connective tissue disease, which is typified by tissue fragility, joint hypermobility, a tendency to bleed excessively and rupture of the uterus, the bowel and arteries. Two case reports are presented which describe the anaesthetic management of patients with spontaneous bowel perforations due to ...
exaly   +3 more sources