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Biologically-targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett's esophagus and esophageal adenocarcinoma.
HGG Adv
January 2025
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Inherited genetics represents an important contributor to risk of esophageal adenocarcinoma (EAC), and its precursor Barrett's esophagus (BE). Genome-wide association studies have identified ∼30 susceptibility variants for BE/EAC, yet genetic interactions remain unexamined. To address challenges in large-scale G×G scans, we combined knowledge-guided filtering and machine learning approaches, focusing on genes with (A) known/plausible links to BE/EAC pathogenesis (n=493) or (B) prior evidence of biological interactions (n=4,196).
View Article and Find Full Text PDFConnecting genomic results for psychiatric disorders to human brain cell types and regions reveals convergence with functional connectivity.
Nat Commun
January 2025
Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
Identifying cell types and brain regions critical for psychiatric disorders and brain traits is essential for targeted neurobiological research. By integrating genomic insights from genome-wide association studies with a comprehensive single-cell transcriptomic atlas of the adult human brain, we prioritized specific neuronal clusters significantly enriched for the SNP-heritabilities for schizophrenia, bipolar disorder, and major depressive disorder along with intelligence, education, and neuroticism. Extrapolation of cell-type results to brain regions reveals the whole-brain impact of schizophrenia genetic risk, with subregions in the hippocampus and amygdala exhibiting the most significant enrichment of SNP-heritability.
View Article and Find Full Text PDFInvestigating a caregiver-assisted social skills group programme for primary and early high school-aged children with acquired brain injury or cerebral palsy: protocol for a pilot mixed-methods, two-group randomised trial of PEERS Plus.
BMJ Open
January 2025
Queensland Cerebral Palsy and Rehabilitation Research Centre, The University of Queensland, South Brisbane, Queensland, Australia.
Introduction: Reaching social milestones is an important goal of childhood. Children with acquired brain injury (ABI) and cerebral palsy (CP) frequently experience challenges with social functioning and participation. The Programme for the Education and Enrichment of Relational Skills (PEERS) is a group-based social skills programme for adolescents.
View Article and Find Full Text PDFThe Application of Hydrogels in the Treatment of Intrauterine Adhesions.
Curr Pharm Des
January 2025
Metabolic Syndrome Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
Intrauterine Adhesions (IUA) are a significant cause of infertility and miscarriage, often resulting from trauma to the endometrium. While hysteroscopic adhesiolysis is the primary treatment, the use of hydrogels as anti-adhesion barriers and drug delivery systems is gaining traction for improving patient outcomes. This review aims to explore various hydrogel types, their role in tissue repair, and the integration of stem cell therapy.
View Article and Find Full Text PDFInjury risk factors and their priority for mitigation in women's netball: a systematic review and Delphi consensus.
Br J Sports Med
January 2025
Section Sports Medicine, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.
This study aimed to establish consensus on injury risk factors in netball via a combined systematic review and Delphi method approach. A systematic search of databases (PubMed, Scopus, MEDLINE, SPORTDiscus and CINAHL) was conducted from inception until June 2023. Twenty-four risk factors were extracted from 17 studies and combined with a three-round Delphi approach to achieve consensus.
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