Results 61 to 70 of about 11,601 (222)

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

Children and adolescents with disorders of gut–brain interaction with comorbid hypermobility and orthostatic intolerance have worse outcomes

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Disorders of gut–brain interaction (DGBI) affect about 40% of children and are often comorbid with hypermobility spectrum disorders (HSDs) and orthostatic intolerance (OI). However, how these comorbidities impact outcomes in pediatric DGBI is not well understood.
Neha Santucci, Austin VonAxelson, Jesse Li, Kahleb Graham, Jennifer Hardy, Megan Miller, Rashmi Sahay   +6 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

Aspectos clínicos del síndrome de Ehlers-Danlos [PDF]

, 1997
Se realiza una revisión bibliográfica de conjunto de los aspectos clínicos más significativos del síndrome de Ehlers-Danlos. Se recogen datos estadísticos, características raciales, morfotipo e interpretación patogénica actual.
Fernández Fernández, C.I., Fernández Gabarda, Rafael, Rodríguez Collel, J.R.   +2 more
core  

Multiple arterial anomalies in the newborn infant. Echocardiographic and angiographic diagnosis [PDF]

, 2000
Multiple arterial anomalies characterized by tortuosity and rolling of the pulmonary arteries and aorta were diagnosed on echocardiography in an asymptomatic newborn infant with a phenotype suggesting Ehlers-Danlos syndrome.
Andrade, José Lazaro de, Carvalho, Antonio Carlos, Gomes, Lourdes, Moisés, Valdir Ambrósio, Rivera, Ivan Romero, Silva, Celia Camelo   +5 more
core   +5 more sources

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Examining the Role of Artificial Intelligence in Assessment: A Comparative Study of ChatGPT and Educator‐Generated Multiple‐Choice Questions in a Dental Exam

European Journal of Dental Education, EarlyView.
ABSTRACT Aim To compare the item difficulty and discriminative index of multiple‐choice questions (MCQs) generated by ChatGPT with those created by dental educators, based on the performance of dental students in a real exam setting. Materials and Methods A total of 40 MCQs—20 generated by ChatGPT 4.0 and 20 by dental educators—were developed based on ...
Nezaket Ezgi Özer, Yusuf Balcı, Gaye Bölükbaşı, Betul İlhan, Pelin Güneri   +4 more
wiley   +1 more source

Vascular type Ehlers‐Danlos syndrome with intra‐abdominal hemorrhage due to ruptured hepatic aneurysm: A case report

Acute Medicine & Surgery
Background Vascular Ehlers‐Danlos syndrome has a high mortality rate due to hemorrhagic complications. Case Presentation We report a case of vascular‐type Ehlers‐Danlos syndrome diagnosed due to rupture of multiple celiac aneurysms.
Masaou Tanaka, Kentaro Ueda, Takafumi Yonemitsu, Shinobu Tamura, Akira Ikoma, Tetsuo Sonomura, Shigeaki Inoue   +6 more
doaj   +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

Proteolysis at the extracellular matrix interface: Molecular architects and regulators in health and disease

The FEBS Journal, EarlyView.
The extracellular matrix (ECM) is a dynamic scaffold that orchestrates tissue architecture and cellular communication. A critical but underexplored interplay between proteases and cluster of differentiation molecules (CD) governs ECM turnover and directs cell fate.
David Jurnečka, Matija Hrovatin, Bor Bokalj, Boris Turk   +3 more
wiley   +1 more source