Results 51 to 60 of about 1,555,246 (206)

Gender dysphoria in adolescents with Ehlers–Danlos syndrome

, 2022
Objectives: Ehlers–Danlos Syndrome represents a family of heritable connective tissue disorders that include joint hypermobility, tissue fragility, and skin hyperextensibility.
Jordan T. Jones, Lindsey Malloy Walton, William R. Black, Eric T. Rush, Christine N. Moser   +4 more
core   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

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

Outcomes of surgical versus conservative treatment in pediatric median arcuate ligament syndrome

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Median arcuate ligament syndrome (MALS) involves compression of the celiac artery and presents with gastrointestinal symptoms. We evaluated outcomes after surgical versus conservative management in pediatric MALS. Methods We reviewed charts of symptomatic patients aged 7–21 years diagnosed by ultrasound and/or computed tomography ...
Mohamad Abi Nassif, Juan Gurria, Danny Mallon, Rashmi Sahay, Lev Dorfman, Emily Vore, Jennifer Hardy, Kaitlin Whaley, Alex Nasr, Neha R. Santucci   +9 more
wiley   +1 more source

Beyond Joint Hypermobility: Investigating Bladder Dysfunction in Hypermobile Ehlers‐Danlos Syndrome

Neurourology and Urodynamics, EarlyView.
ABSTRACT Introduction and Objectives Hypermobile Ehlers‐Danlos Syndrome (hEDS) is the most common subtype of Ehlers‐Danlos Syndrome, a group of connective tissue disorders caused by collagen abnormalities. While musculoskeletal features of hEDS are well characterized, its impact on visceral organs, including the bladder, remains underexplored.
Marium Ansari, Mallory Pine, Viktoriya Sapkalova, Emily Chan Brodowsky, Charles R. Powell, Ramzy T. Burns   +5 more
wiley   +1 more source

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

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   +1 more source

Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature

Journal of Medical Case Reports, 2011
Introduction Colonoscopic perforation is a rare but serious complication of colonoscopy. Factors known to increase the risk of perforation include colonic strictures, extensive diverticulosis, and friable tissues.
Wolfe John, Lloyd Josephine, Purkayastha Sanjay, Aziz Omer, Rana Mariam, Ziprin Paul   +5 more
doaj   +1 more source

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

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