Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
A case of fatal cerebral air embolism in a patient with Osler-Weber-Rendu Disease.
Acta Neurol Belg
January 2025
Intensive Care Department, Cliniques Universitaire Saint-Luc (CUSL), Université Catholique de Louvain (UCL), Brussels, Belgium.
Osler-Weber-Rendu syndrome, or hereditary hemorrhagic telangiectasia (HHT), is a rare vascular disorder characterized by arteriovenous malformations (AVMs) in various organs, including the lungs. Pulmonary AVMs (PAVMs) are especially worrisome due to their potential to form right-to-left shunts, resulting in life-threatening complications such as paradoxical embolism and stroke . We present a case of fatal air embolism in a young patient with a known history of HHT and recurring hemoptysis.
View Article and Find Full Text PDFMolecular basis of interchain disulfide bond formation in BMP-9 and BMP-10.
J Mol Biol
January 2025
Department of Structural Biology, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15260, USA. Electronic address:
BMP-9 and BMP-10 are TGF-β family signaling ligands naturally secreted into blood. They act on endothelial cells and are required for proper development and maintenance of the vasculature. In hereditary hemorrhagic telangiectasia, regulation is disrupted due to mutations in the BMP-9/10 pathway, namely in the type I receptor ALK1 or the co-receptor endoglin.
View Article and Find Full Text PDFConservative Pulmonary Arteriovenous Malformation Screening in Children: Re-Evaluation of Safety.
Pediatr Pulmonol
January 2025
Department of Pulmonology, St. Antonius Hospital, Nieuwegein, the Netherlands.
Introduction: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disease and screening to detect pulmonary arteriovenous malformations (PAVMs) is important to prevent complications. In adults, transthoracic contrast echocardiogram (TTCE) is used to screen PAVMs. In children, a conservative screening method seems to be sufficient to rule out major PAVMs and prevent them from PAVM-related complications.
View Article and Find Full Text PDFHereditary haemorrhagic telangiectasia.
Nat Rev Dis Primers
January 2025
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HHT Rare Disease Working Group, Paris, France.
Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait and caused by loss-of-function pathogenic variants in genes encoding proteins of the BMP signalling pathway. Up to 90% of disease-causal variants are observed in ENG and ACVRL1, with SMAD4 and GDF2 less frequently responsible for HHT. In adults, the most frequent HHT manifestations relate to iron deficiency and anaemia owing to recurrent epistaxis (nosebleeds) or bleeding from gastrointestinal telangiectases.
View Article and Find Full Text PDFElective Thoracic Surgical Resections for Pulmonary Arteriovenous Malformations - A 16 Year Single-Center Experience.
Pulm Circ
January 2025
National Heart and Lung Institute, Imperial College London UK.
Pulmonary arteriovenous malformations (PAVMs) cause cerebral abscess and ischemic stroke due to paradoxical emboli, risks that are increasingly recognized. We report the evolving placement of thoracic surgery in multi-disciplinary team management of PAVMs that were sporadic or associated with hereditary hemorrhagic telangiectasia. From 1983 to 2006, all patients receiving elective treatment had embolization.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!