Results 51 to 60 of about 1,915,528 (208)

Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review

Frontiers in Genetics, 2023
Vascular Ehlers–Danlos syndrome (vEDS), the most severe type of Ehlers–Danlos syndrome, is caused by an autosomal-dominant defect in the COL3A1 gene. In this report, we describe the clinical history, specific phenotype, and genetic diagnosis of a man who
Xianda Wei, Xianda Wei, Xu Zhou, BoBo Xie, BoBo Xie, Meizhen Shi, Meizhen Shi, Chunrong Gui, Chunrong Gui, Bo Liu, Caiyan Li, Chi Zhang, Jiefeng Luo, Cundong Mi, Baoheng Gui, Baoheng Gui   +15 more
doaj   +1 more source

The association between collagenopathies and the risk of spontaneous preterm birth: A systematic review with selective meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
This review quantifies the association between collagenopathies and spontaneous preterm birth, assessing their role in antenatal risk assessment. Marfan syndrome is significantly associated with an increased risk of spontaneous preterm birth (OR 2.71, 95% CI 2.23–3.30; p < 0.001; I2 = 41%) while evidence for Ehlers–Danlos syndrome is heterogeneous ...
Kensie Treacy, Brenda F. Narice, Denya Williams‐Goss, Dilly O. C. Anumba   +3 more
wiley   +1 more source

Síndrome de Ehlers-Danlos e gravidez: relato de caso Ehlers-Danlos syndrome and pregnancy: a case report

Revista Brasileira de Ginecologia e Obstetrícia, 2003
A síndrome de Ehlers-Danlos é doença do tecido conjuntivo cuja associação com a gestação é extremamente rara, mas com complicações potencialmente fatais no ciclo gravídico-puerperal, como roturas vasculares e intestinais.
Marcelo Luís Nomura, Fernanda Garanhani de Castro Surita, Mary Angela Parpinelli   +2 more
doaj   +1 more source

Arterial complications of vascular Ehlers-Danlos syndrome [PDF]

Journal of Vascular Surgery, 2016
Vascular Ehlers-Danlos syndrome (EDS) is a relatively rare genetic syndrome that occurs owing to disorders in the metabolism of fibrillary collagen. These defects affect the soft connective tissues resulting in abnormalities in the skin, joints, hollow organs, and blood vessels.
openaire   +2 more sources

Celiprolol Treatment in Patients with Vascular Ehlers-Danlos Syndrome [PDF]

European Journal of Vascular and Endovascular Surgery, 2019
Vascular Ehlers-Danlos syndrome (vEDS) is a rare monogenetic disease caused by pathogenic variants in procollagen 3A1. Arterial rupture is the most serious clinical manifestation. A randomised controlled trial, the Beta-Blockers in Ehlers-Danlos Syndrome Treatment (BBEST) trial, reported a significant protective effect of the beta blocker celiprolol ...
Hassan Baderkhan, Anders Wanhainen, Anna Stenborg, Eva-Lena Stattin, Martin Björck   +4 more
openaire   +4 more sources

Rare Bleeding Disorders and Bleeding Disorder of Unknown Cause: Current Understanding and Recent Developments

Haemophilia, EarlyView.
ABSTRACT Rare bleeding disorders (RBDs) represent a diverse group of inherited conditions involving coagulation factors or platelets. These conditions, such as Glanzmann thrombasthenia (GT) or severe coagulation factor deficiencies, are uncommon. In contrast, bleeding disorder of unknown cause (BDUC) is a diagnosis of exclusion without an identifiable ...
Alessandro Casini, Robert Klamroth, Bauke Haisma, Dino Mehic, Saskia E. M. Schols   +4 more
wiley   +1 more source

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

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   +1 more source

Solitary Lesion With Features of Atrophic Papulosis in Early Childhood

Pediatric Dermatology, EarlyView.
ABSTRACT Atrophic papulosis (Köhlmeier‐Degos disease) is a rare thrombo‐occlusive vasculopathy classically presenting with multiple porcelain‐white atrophic papules and a high risk of progression to systemic involvement. We report a 2‐year‐old girl presenting with clinical, dermoscopic, and histologic findings of atrophic papulosis with only a solitary
Ou Jia Emilie Wang, Alennie Lopez, Nathan Teegee, Richard I. Crawford, Joseph M. Lam   +4 more
wiley   +1 more source

Ehlers-Danlos with disease of the aorta and mitral valve

, 2012
A woman aged 46 years with a history of vascular Ehlers Danlos syndrome presented with atypical chest pain. She had previously required a mitral valve replacement for mitral valve prolapse.
Pearman, Charles M.
core   +1 more source

Spontaneous celiac artery aneurysms in 13-year-old and 10-year-old brothers with PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome

Journal of Vascular Surgery Cases and Innovative Techniques
PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome is a rare, autosomal recessive connective tissue disorder characterized by congenital hypotonia, early-onset, progressive kyphoscoliosis, and generalized joint hypermobility. PLOD1-kyphoscoliotic Ehlers-
Apoorva Bhandari, MD, MSc, Victoria Siu, MD, FRCPC, FCCMG, Audra A. Duncan, MD, FACS, FRCSC   +2 more
doaj   +1 more source