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Additive Value of Polygenic Risk Score to Family History for Type 2 Diabetes Prediction: Results From the All of Us Research Database.
Diabetes Care
February 2025
Division of Blood Disorders and Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA.
Objective: The goal of this study was to assess the additive value of considering type 2 diabetes (T2D) polygenic risk score (PRS) in addition to family history for T2D prediction.
Research Design And Methods: Data were obtained from the All of Us (AoU) research database. First-degree T2D family history was self-reported on the personal family history health questionnaire.
Case report: A novel germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Calmette-Guerin osteomyelitis.
Front Immunol
January 2025
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, Hong Kong SAR, China.
Signal transducer and activator of transcription 1 (STAT1) gene mutations have broad clinical phenotypes, classified by the inheritance pattern and functional state. Individuals with autosomal dominant STAT1 deficiency are more susceptible to intracellular bacteria, the hallmark of which is Mendelian susceptibility to mycobacterial diseases (MSMDs) that are associated with increased risks of invasive disease by weakly virulent mycobacteria. We report a novel heterozygous missense mutation in exon 23 of the STAT1 gene (NM_007315.
View Article and Find Full Text PDFPiloting creative engagement strategies to explore themes of parenthood with fathers.
Front Child Adolesc Psychiatry
January 2024
Translational Health Sciences, Bristol Medical School, University of Bristol, Bristol, United Kingdom.
Introduction: The role of the arts in health is increasingly recognised, with participatory arts-based approaches facilitating public engagement. However, little is known about men's involvement in art-based participatory research. We aimed to investigate how men who are fathers may be engaged creatively to explore experiential aspects of fathering and parenthood.
View Article and Find Full Text PDFA New Mechanism of Supraventricular Tachycardia: Gene Mutation.
Curr Cardiol Rev
January 2025
Department of Cardiology, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.
Background: Supraventricular tachycardia (SVT) is very common in daily clinical practice, especially in the emergency department, with rapid onset and urgent management. The review highlights the recent genetic predispositions and mechanisms in SVT.
Methods: Through analysis of epidemiology, familial clustering, and gene mutations of the relevant literature，the review elucidates the genetic properties and potential pathophysiology of SVT.
The SERPINB4 gene mutation identified in twin patients with Crohn's disease impaires the intestinal epithelial cell functions.
Sci Rep
January 2025
Department of Gastroenterology, The National Key Clinical Specialty, Clinical Research Center for Gut Microbiota and Digestive Diseases of Fujian Province, Key Laboratory for Intestinal Microbiome and Human Health of Xiamen, Zhongshan Hospital of Xiamen University, Xiamen, 361004, China.
Crohn's disease (CD) is a chronic inflammatory autoimmune disease of unknown etiology. To identify new targets related to the initiation of CD, we screened a pair of twins with CD, which is a rare phenomenon in the Chinese population, for genetic susceptibility factors. Whole-exome sequencing (WES) of these patients revealed a mutation in their SERPINB4 gene.
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