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Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.
Genome Med
December 2024
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HTAD and MSA Rare Disease, Working Group, Paris, France.
Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.
View Article and Find Full Text PDFSystemic adverse drug events to topical prostaglandin analogs for treating glaucoma: a retrospective focused pharmacovigilance study.
BMC Ophthalmol
December 2024
Department of Pharmacology & Therapeutics, College of Medicine & Health Sciences, Arabian Gulf University, Manama, Kingdom of Bahrain.
Background: Prostaglandin analogs are first-line treatments for open-angle glaucoma due to their proven efficacy in reducing intraocular pressure. Despite their topical administration, systemic adverse drug Events (ADEs) have been reported. This study investigates the systemic ADEs associated with topical prostaglandin analogs using the United States Food and Drug Administration (USFDA) Adverse Drug Event Reporting System (AERS) database.
View Article and Find Full Text PDFCystic masses of the pediatric lung: update on congenital pulmonary airway malformation and its differential diagnosis.
Virchows Arch
December 2024
Department of Pathology, Boston Children's Hospital & Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
Localized cystic lung lesions in pediatric patients encompass a spectrum of benign and rare malignant conditions that are quite distinct from cystic lung disease arising in adulthood. The majority have historically fallen under the diagnostic category of "congenital pulmonary airway malformation," a term that has been used to denote a diverse group of diseases ranging in etiology from ectopia to bronchial atresia to mosaic oncogenic mutation or neoplasia. This article reviews the clinical characteristics, gross and histologic features, and pathogenetic underpinnings of congenital pulmonary airway malformation as well as lesions that enter its histologic differential diagnosis.
View Article and Find Full Text PDFDetection of Costal Cartilage Fractures on CT Images With Computer-aided Detection System for Rib Fractures.
In Vivo
December 2024
Department of Radiology, Graduate School of Medical Science, University of the Ryukyus, Okinawa, Japan.
Background/aim: Costal cartilage fractures are associated with poor prognosis in patients with blunt chest trauma. A Computer-Aided Detection (CAD) system for detecting rib fractures has been used in practice, but it is unclear whether this system recognizes costal cartilage fractures. This study investigated whether the CAD system for rib fracture can detect costal cartilage fractures.
View Article and Find Full Text PDFNational and regional trends in the prevalence of Perthes' disease among the male population in South Korea.
Bone Joint J
January 2025
Department of Orthopedic Surgery, College of Medicine, Chung-Ang University Hospital, Chung-Ang University, Seoul, South Korea.
Aims: We evaluated the national and regional trends from 2013 to 2022, in the prevalence of Perthes' disease among adolescent males in South Korea.
Methods: This retrospective, nationwide, population-based study included a total of 3,166,669 Korean adolescent males examined at regional Military Manpower Administration (MMA) offices over ten years. Data from the MMA were retrospectively collected to measure the national and regional prevalence per 100,000 and 95% CI of Perthes' disease according to the year (1 January 2013 to 31 December 2022) and history of pelvic and/or femoral osteotomy in South Korea.
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