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Expanding the Genotypic and Phenotypic Spectrum of -Related Conditions: Three More Cases.
Genes (Basel)
December 2024
Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Introduction: Pathogenic variants in the gene are linked to a spectrum of syndromes that exhibit partial clinical overlap. Hemizygous loss-of-function variants are considered lethal in males, while heterozygous loss-of-function variants generally result in oro-facial-digital syndrome type 1. A reported phenotype, Simpson-Golabi-Behmel syndrome type 2, was published once but remains controversial, with many specialists questioning its validity and arguing about its continued listing in the OMIM database.
View Article and Find Full Text PDFGiant Chiari's Network in Healthy Adults.
Cureus
December 2024
Cardiovascular Surgery, Kawasaki Municipal Hospital, Kawasaki, JPN.
A 40-year-old male visited our clinic for cardiac evaluation. He had palpitations for several years, but the reason was unknown. Transthoracic echocardiography revealed a hyperechoic ribbon-shaped structure that moved vigorously in the right atrium.
View Article and Find Full Text PDFCase report: Detecting giant cell arteritis in [Ga]Ga-DOTA-Siglec-9-PET/CT.
Front Immunol
January 2025
Department of Rheumatology and Clinical Immunology, Clinic of Internal Medicine III, University Hospital Bonn, Bonn, Germany.
Objectives: This study aimed to evaluate the diagnostic utility of [Ga]Ga-DOTA-Siglec-9 positron emission tomography-computed tomography (PET/CT) in assessing disease activity in a patient experiencing a relapse of giant cell arteritis (GCA).
Case Presentation: A 90-year-old male patient with GCA, diagnosed in 2018, was enrolled. Demographic data, disease history, and laboratory parameters, including soluble VAP-1 (sVAP-1) levels, were recorded.
Sudden death in a case of triple-vessel, non-atherosclerotic, diffuse ectasia and aneurysmal dilatations of the coronary arteries: An autopsy report.
Cardiovasc Pathol
January 2025
Department of Forensic Pathology, University Malaya Medical Centre, Lembah Pantai, 59100 WP Kuala Lumpur, Malaysia.
Aneurysmal Coronary Artery Disease (ACAD) can occur as localized dilations of a segment of one or more coronary arteries or diffuse ectasia-type dilatations of one or more coronaries. Atherosclerosis remains the most common cause of these aneurysms, with Kawasaki Disease being implicated in the Asian population. We present a case of a 62-year-old Asian woman who dies suddenly with no prior symptoms.
View Article and Find Full Text PDFGiant thrombus formation in Chiari network after surgical closure of atrial septal defect: a case report.
Eur Heart J Case Rep
January 2025
Cardiology Department, University Virgen de las Nieves Hospital, Avenida de las Fuerzas Armadas 2, Granada 18014, Spain.
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