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Diagnostic Challenge of Phenotypic Variability in COL2A1-Related Disorders: Four Novel Variants and Expanding the Clinical Spectrum.
J Clin Res Pediatr Endocrinol
January 2025
Department of Pediatric Endocrinology, Umraniye Training and Research Hospital, Istanbul, Türkiye.
Objective: Heterozygous COL2A1 gene mutations are associated with type 2 collagenopathies, characterized by a wide, diverse, and overlapping clinical spectrum in related diseases. Our goal is to describe the clinical, radiological, and molecular findings of patients with COL2A1-related dysplasia and investigate the phenotype-genotype correlation. We also aim to emphasize the challenge of categorizing COL2A1-related diseases with similar clinical and radiological phenotypes.
View Article and Find Full Text PDFAdvanced Automated Model for Robust Bone Marrow Segmentation in Whole-body MRI.
Acad Radiol
January 2025
Division of Radiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany (F.B., M.G., H.P.S., S.D.); Diagnostic and Interventional Radiology, University Hospital Heidelberg, 69120 Heidelberg, Germany (T.F.W., M.W.).
Rationale And Objectives: To establish an advanced automated bone marrow (BM) segmentation model on whole-body (WB-)MRI in monoclonal plasma cell disorders (MPCD), and to demonstrate its robust performance on multicenter datasets with severe myeloma-related pathologies.
Materials And Methods: The study cohort comprised multi-vendor, multi-protocol imaging data acquired with varying field strength across 8 different centers. In total, 210 WB-MRIs of 207 MPCD patients were included.
Lysosomal dysfunction and inflammatory sterol metabolism in pulmonary arterial hypertension.
Science
January 2025
Center for Pulmonary Vascular Biology and Medicine, Pittsburgh, Heart, Lung, and Blood Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA, USA.
Vascular inflammation regulates endothelial pathophenotypes, particularly in pulmonary arterial hypertension (PAH). Dysregulated lysosomal activity and cholesterol metabolism activate pathogenic inflammation, but their relevance to PAH is unclear. Nuclear receptor coactivator 7 () deficiency in endothelium produced an oxysterol and bile acid signature through lysosomal dysregulation, promoting endothelial pathophenotypes.
View Article and Find Full Text PDFCorrection: Adolescents and parents' knowledge of chronic kidney disease: the potential of school-based education.
Clin Exp Nephrol
January 2025
Niigata Institute for Health and Sports Medicine, 67-12 Ceigoro Chuo-ku, Niigata, 950-0933, Japan.
Stressful life events are associated with the diagnosis of systemic autoimmune rheumatic diseases among adults.
Clin Exp Rheumatol
January 2025
Environmental Autoimmunity Group, National Institute of Environmental Health Sciences, National Institutes of Health, Bethesda, MD, and Research Triangle Park, NC, USA.
Objectives: To assess the association between life events and subsequent diagnosis of systemic autoimmune rheumatic diseases (SARDs) by comparing siblings discordant for SARDs and unrelated controls.
Methods: Life events 12 months prior to SARD diagnosis/reference date were queried using the Interview for Recent Life Events in 227 adults (96 probands with SARDs, 78 siblings, 53 controls). Probands were matched by age, sex, and race with their unaffected siblings or with unrelated controls.
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