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Radiological insights into fibromuscular dysplasia unveiled by intracranial aneurysms and iliac vein hypoplasia in suspected DVT.
Radiol Case Rep
March 2025
Radiology Department, University Hospital Center of Souss Massa, Faculty of Medicine and Pharmacy, Ibn Zohr Agadir University, Agadir, Morocco.
Fibromuscular Dysplasia (FMD) is a nonatherosclerotic, noninflammatory vascular disorder predominantly affecting women aged 18 to 65 years. This case report highlights a 74-year-old female diagnosed with FMD incidentally during evaluation for deep vein thrombosis (DVT). Imaging revealed significant vascular anomalies, including a giant intracranial carotid aneurysm and a hypoplastic iliac vein with extensive collateral formation.
View Article and Find Full Text PDFDiagnosis of Carotid Fibromuscular Dysplasia Using Transoral Ultrasound in the Intensive Care Unit.
J Clin Ultrasound
January 2025
Argentinian Critical Care Ultrasonography Association (ASARUC), Buenos Aires, Argentina.
Fibromuscular dysplasia (FMD) is a rare, non-atherosclerotic vascular disease affecting medium to large arteries, especially the renal and internal carotid arteries (ICAs). The string-of-beads appearance, indicative of alternating areas of stenosis and dilatation, is a key imaging feature typically observed in the distal ICAs. Diagnosing FMD in critically ill patients poses challenges due to the risks associated with traditional imaging methods such as computed tomography angiography (CTA), magnetic resonance angiography, and digital subtraction angiography.
View Article and Find Full Text PDFEndothelial Cpt1a Inhibits Neonatal Hyperoxia-Induced Pulmonary Vascular Remodeling by Repressing Endothelial-Mesenchymal Transition.
Adv Sci (Weinh)
January 2025
Department of Molecular Biology, Cellular Biology, and Biochemistry, Brown University, Providence, RI, 02912, USA.
Pulmonary hypertension (PH) increases the mortality of preterm infants with bronchopulmonary dysplasia (BPD). There are no curative therapies for this disease. Lung endothelial carnitine palmitoyltransferase 1a (Cpt1a), the rate-limiting enzyme of the carnitine shuttle system, is reduced in a rodent model of BPD.
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 PDFLarge language models in rare disease: accuracy in addressing fibromuscular dysplasia questions.
Vasa
January 2025
Department of Cardiovascular Medicine, Section of Vascular Medicine, Heart Vascular and Thoracic Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA.
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