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A European Delphi Consensus on the Management of Abdominal Aortic Aneurysms in Patients with Heritable Aortic Diseases.
Eur J Vasc Endovasc Surg
January 2025
Universitat Autònoma de Barcelona (UAB), Bellaterra, Spain; Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain; Department of Vascular, Endovascular Surgery and Angiology, Hospital Universitari Vall d'Hebron, Barcelona, Spain. Electronic address:
Objective: Abdominal aortic aneurysm (AAA) in a patient with an underlying heritable aortic disease (HAD) is rare, and evidence based recommendations for its management are lacking. This study aimed to generate a consensus from multidisciplinary specialists on the diagnosis, treatment, and surveillance of AAA associated with HAD and to define topics of interest for future research.
Methods: A Delphi consensus was designed involving European multidisciplinary specialists and reported using the ACcurate COnsensus Reporting Document (ACCORD) reporting guideline.
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 PDFProvocation of brachial plexus and systemic symptoms during the elevated arm stress test in individuals with myalgic encephalomyelitis/chronic fatigue syndrome or idiopathic chronic fatigue.
J Transl Med
January 2025
Division of Adolescent and Young Adult Medicine, Departments of Pediatrics, Johns Hokins University School of Medicine, 200 N. Wolfe St., Room 2077, Baltimore, MD, 21287, USA.
Background: We have noted that some adolescents and young adults with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) report difficulty with arms-overhead activities, suggestive of brachial plexus dysfunction or thoracic outlet syndrome (TOS). In the TOS literature, diagnostic maneuvers focus on the provocation of upper limb symptoms (arm fatigue and heaviness, paresthesias, neck and upper back pain), but not on elicitation of systemic symptoms.
Objectives: To estimate the proportion of patients with fatiguing illness who experience local and systemic symptoms during a common maneuver used in evaluating TOS-the elevated arm stress test (EAST).
Map2k6 is a potent genetic modifier of arterial rupture in vascular Ehlers-Danlos syndrome mice.
JCI Insight
January 2025
Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, United States of America.
Aortic dissection or rupture is a major cause of mortality in vascular Ehlers-Danlos Syndrome (vEDS), a connective tissue disorder caused by heterozygous mutations in the COL3A1 gene. C57BL6/J (BL6) mice carrying the Col3a1 G938D/+ mutation recapitulate the vEDS vascular phenotype and die suddenly of aortic rupture/dissection. However, 129S6/SvEvTac (129) mice expressing the same Col3a1 G938D/+ mutation show near-complete life-long protection from vascular rupture.
View Article and Find Full Text PDFA novel COL3A1 gene variant associated with sudden death due to spontaneous pneumothorax.
Forensic Sci Med Pathol
January 2025
Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
Spontaneous pneumothorax (SP) is a condition defined by abnormal gas accumulation in the chest cavity. Mutations of the collagen type III alpha 1 chain, COL3A1 gene, are primarily linked to vascular Ehlers-Danlos syndrome (vEDS); however, they can also contribute to structural changes in the tissue, like bullae of the lungs. In this case report, we present a young, thinly built boy who died due to a spontaneous pneumothorax.
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