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KaRhab: an international online registry for cardiac rhabdomyomas.
Orphanet J Rare Dis
January 2025
Institute of Human Genetics, Leipzig University Medical Center, Leipzig, Germany.
Background: Cardiac rhabdomyoma (RHM) is considered one of the most frequent benign heart tumors in children. However, encounters with cardiac RHM in clinical practice remain rare. Clinical information is primarily available in the form of single case reports or smaller studies with a shortage of large-scale reviews encompassing a substantial number of cases.
View Article and Find Full Text PDFSuperficial arteriovenous malformations are rare fast-flow lesions. They consist of arteriovenous shunts, without cellular hyperplasia or proliferation, which develop in the surrounding tissues (cutaneous, subcutaneous, muscular, bone). Although benign, they are among the most severe of superficial malformations.
View Article and Find Full Text PDFGenetic diversity of the immunoglobulin heavy chain locus in cohorts of patients affected with SARS-CoV-2.
Hum Genomics
January 2025
Department of Biology, Tor Vergata University of Rome, Via della Ricerca Scientifica 1, 00133, Rome, Italy.
Background: The Immunoglobulin Heavy Chain (IGH) genomic region is responsible for the production of circulating antibodies and warrants careful investigation for its association with COVID-19 characteristics. Multiple allelic variants within and across different IGH gene segments form a limited set of haplotypes. Previous studies have shown associations between some of these haplotypes and clinical outcomes of COVID-19.
View Article and Find Full Text PDFThe clinical frailty scale is associated with an increased risk of postoperative complications and the development of post-traumatic osteoarthritis in elderly patients with trimalleolar ankle fractures - a retrospective study.
J Orthop Surg Res
January 2025
Department of Orthopedics, Pidu District People's Hospital, The Third Affiliated Hospital of Chengdu Medical College, Chengdu, 611730, China.
Background: The Clinical Frailty Scale (CFS) is a tool to assess the overall health of older adults. There are few reports of CFS and prognosis of ankle fracture. The objective of this study was to determine the predictive power of the CFS for adverse clinical and radiographic outcomes after surgery in elderly patients with trimalleolar fractures.
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