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PRMT5 Inhibition Reduces Hyperinflammation in a Murine Model of Secondary Hemophagocytic Lymphohistiocytosis (HLH).
Blood Adv
January 2025
The Ohio State University, Columbus, Ohio, United States.
Hemophagocytic lymphohistiocytosis (HLH) is a rare but aggressive and potentially lethal hyperinflammatory syndrome characterized by pathologic immune activation and excessive production of proinflammatory cytokines leading to tissue damage and multisystem organ failure. There is an urgent need for the discovery of novel targets and development of therapeutic strategies to treat this rare but deadly syndrome. Protein Arginine Methyltransferase 5 (PRMT5) mediates T cell-based inflammatory responses, making it a potential actionable target for the treatment of HLH.
View Article and Find Full Text PDFGenomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Nat Med
January 2025
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.
View Article and Find Full Text PDFDiscovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Am J Hum Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. Electronic address:
Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.
View Article and Find Full Text PDFRecurrent opportunistic infections in a HIV-negative patient with combined C6 and mutations: A case report, pedigree analysis, and literature review.
Open Med (Wars)
December 2024
Department of Pulmonary and Critical Care Medicine, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University), Haikou, Hainan, China.
Introduction: Recurrent opportunistic infections are particularly common in patients infected with human immunodeficiency virus (HIV). However, these opportunistic infections have also been reported in HIV-negative patients, especially those with primary immunodeficiency disorder (PID), a condition that involves a large heterogeneous group of disorders arising from defects in immune system development and/or function.
Case: Here, we report a very rare case of recurrent opportunistic infections in a non-HIV-infected patient combined with mutations in complement component C6 and nuclear factor kB subunit 1 ().
Adult-type ALCAPA: missed at preoperative evaluation.
Indian J Thorac Cardiovasc Surg
February 2025
Ankara City Hospital Cardiovascular Surgery, Ankara, Turkey.
Unlabelled: The Bland-White-Garland syndrome, or Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery (ALCAPA) syndrome, is a rare congenital cardiac anomaly often associated with high mortality, if left untreated. We present a case of a 43-year-old female with undiagnosed ALCAPA who initially underwent mitral valve surgery for severe mitral regurgitation, only to require reoperation due to adult-type ALCAPA. Intraoperatively, the discovery of dilated right coronary artery and its branches and absence of the left coronary ostium prompted further investigation, leading to the diagnosis of adult-type ALCAPA.
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