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Evaluation of intestinal biopsy tissue preservation methods to facilitate large-scale mucosal microbiota research.
EBioMedicine
December 2024
Translational & Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; Department of Gastroenterology, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom. Electronic address:
Article Synopsis
- Large-scale studies are essential to investigate the gut microbiota's complex relationships with health and disease, and tissue preservation methods need evaluation for feasibility in such research.
- Biopsies from 20 adults with inflammatory bowel disease were preserved using three methods: flash freezing, nucleic acid preservative reagents, and formalin fixation with paraffin embedding (FFPE), with microbiota analyzed using sequencing.
- Results showed that while preservative reagents can serve as viable alternatives to flash freezing, FFPE samples exhibited distinct community structures, highlighting the potential utility of historical samples despite differences in microbial profiles.
Leveraging artificial intelligence and machine learning to accelerate discovery of disease-modifying therapies in type 1 diabetes.
Diabetologia
December 2024
Department of Pathology, Immunology, and Laboratory Medicine, College of Medicine, University of Florida, Gainesville, FL, USA.
Progress in developing therapies for the maintenance of endogenous insulin secretion in, or the prevention of, type 1 diabetes has been hindered by limited animal models, the length and cost of clinical trials, difficulties in identifying individuals who will progress faster to a clinical diagnosis of type 1 diabetes, and heterogeneous clinical responses in intervention trials. Classic placebo-controlled intervention trials often include monotherapies, broad participant populations and extended follow-up periods focused on clinical endpoints. While this approach remains the 'gold standard' of clinical research, efforts are underway to implement new approaches harnessing the power of artificial intelligence and machine learning to accelerate drug discovery and efficacy testing.
View Article and Find Full Text PDFNeck strength deficit is a risk factor for concussion in high school rugby union and rugby league players.
J Sci Med Sport
December 2024
Discipline of Physiotherapy, School of Health Sciences and Social Work, Griffith University, Australia; Menzies Health Institute of Queensland, Griffith University, Australia; Mater Back Stability Research Clinic, Mater Health, Australia. Electronic address: https://twitter.com/julie_hides.
Objectives: Primary prevention of concussions is a priority in contact sports, with growing interest in the role of neck strength in mitigating the risks of concussion. The aim of this study was to determine if neck function was associated with in-season concussions in adolescent rugby union and league athletes, and to establish clinical values to identify players with increased risk of sustaining a concussion.
Design: Prospective cohort study.
Nationwide, Couple-Based Genetic Carrier Screening.
N Engl J Med
November 2024
From the Centre for Clinical Genetics, Sydney Children's Hospital (E.P.K., K.B., S.R., S.K.), NSW Health Pathology Randwick Genomics Laboratory (E.P.K., B.R., C.C.C., F.Z., J.F., M.B., N.Q., S.R., S.K., T.R., Y.Z.), the School of Clinical Medicine (E.P.K., M.B.), the School of Women's and Children's Health (L. Freeman, S.R., S.K.), and the Randwick Clinical Campus, Neuroscience Research Australia (Y.Z.), University of New South Wales, Randwick, Victorian Clinical Genetics Services (M.B.D., A.D.A., A.K.-P., C.H., C.L., I.D., J.E.M., K.S., L.G., L.T., M.C.O., M. Wall, M.T.M.C., M.M.F., N.L., S. Lunke, S. Eggers), the Bruce Lefroy Centre, Murdoch Children's Research Institute (M.B.D., E.A.K.), the Department of Paediatrics (M.B.D., A.D.A., E.T., J.L.H., S. Lewis, B.J.M., J. Massie, E.A.K., Z.F.), the Department of General Practice and Centre for Cancer Research (J.D.E.), and the Department of Pathology (Sebastian Lunke), University of Melbourne, Murdoch Children's Research Institute (A.D.A., E.T., J.C., J.L.H., S. Lewis, B.J.M., J. Massie, A.R., E.A.K., E.O.M., L.G., M.H., S.J., S. Lunke, S. Eggers, T.F.B.), and Australian Genomics (J.C., A.J.N., S.B., Jeffrey Braithwaite, E.O.M., K.B., S.J., Z.F., T.F.B.), Parkville, VIC, the Faculty of Medicine and Health, Sydney School of Public Health, Sydney Health Ethics, University of Sydney, Camperdown, NSW (A.J.N., L.D.), the Graduate School of Health, University of Technology Sydney (L.D., L. Freeman), Macquarie University, Australian Institute of Health Innovation (J.C.L., J. Braithwaite, T.T.), and the Faculty of Medicine and Health, University of New South Wales (K.B.-S.), Sydney (R.C.), the Peter MacCallum Cancer Centre (S.B.), the Victorian Comprehensive Cancer Centre (S.B.), the Sir Peter MacCallum Department of Oncology (S.B.) and the Department of Obstetrics and Gynaecology (S.P.W.), University of Melbourne, the Department of Respiratory Medicine and Children's Bioethics Centre, the Royal Children's Hospital (J. Massie), Genomic Diagnostics (A.K.), and Virtus Health, Virtus Genetics (S.S.-M.), Melbourne, VIC, Menzies Health Institute Queensland, Griffith University, and Griffith University School of Medicine and Dentistry, Gold Coast (M.J.D., P.A.S.), the Northern Clinical School, Faculty of Medicine and Health (K.B.S., L.B.), and Royal North Shore Hospital, Kolling Institute, Cancer Genetics Laboratory (Y.Z.), University of Sydney, St. Leonards, NSW, SA Pathology (A.K., T.H.), South Australian Clinical Genetics Service (J.L.) and the Pediatric and Reproductive Genetics Unit (L. Fitzgerald), Women's and Children's Hospital, and Repromed (J.L.), Adelaide, the Children's Hospital at Westmead, Sydney Genome Diagnostics (B.H.B., G.H., K.F.), the Specialty of Genomic Medicine, Faculty of Medicine and Health, the Children's Hospital at Westmead Clinical School, University of Sydney (B.H.B., G.H., K.F.), and the Department of Clinical Genetics, the Children's Hospital at Westmead (K.B.), Westmead, NSW, Genetic Health Queensland, Royal Brisbane and Women's Hospital (C.E., J. McGaughran, T. Clinch), and the School of Medicine, University of Queensland (Julie McGaughran), Brisbane, the Department of Diagnostic Genomics, PathWest Laboratory Medicine (D.A., M.R.D., P.K.P., R.J.N.A., R.O., T. Catchpool, N.G.L.), the School of Biological Sciences, Centre for Genetic Origins of Health and Disease (J. Beilby), the Centre for Medical Research (M.R.D., R.O., N.G.L.), and the Faculty of Health and Medical Sciences (N.P.), University of Western Australia, and Harry Perkins Institute of Medical Research (R.O., Samantha Edwards, N.G.L.), Nedlands, the Department of Pathology and Laboratory Medicine, Medical School, University of Western Australia (D.A.), and Genetic Services of Western Australia, King Edward Memorial Hospital (J.K., N.P.), Perth, the Tasmanian Clinical Genetics Service (K.H., M. Wallis) and the School of Medicine and Menzies Institute for Medical Research (M. Wallis), University of Tasmania, Hobart, the Garvan Institute of Medical Research and the School of Clinical Medicine, St. Vincent's Clinical Campus, University of New South Wales, Darlinghurst (L.B.), King Edward Memorial Hospital, Subiaco, WA (N.P.), the School of Biomedical Sciences, University of Western Australia, Crawley (R.J.N.A.), Sonic Healthcare, Douglass Hanly Moir Pathology, Macquarie Park, NSW (S.S.), Mercy Hospital for Women, Mercy Perinatal, Heidelberg, VIC (S.P.W.), and Monash IVF Group, Richmond, VIC (T.H.) - all in Australia; and the International Society for Quality in Health Care, Dublin (J. Braithwaite).
Background: Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive or X-linked genetic condition.
Methods: We investigated the feasibility, acceptability, and outcomes of a nationwide, couple-based genetic carrier screening program in Australia as part of the Mackenzie's Mission project. Health care providers offered screening to persons before pregnancy or early in pregnancy.
Results of a National Delphi consensus on the outpatient management of pediatric psychogenic nonepileptic seizures in the United States.
Epilepsy Behav
November 2024
Division of Neurology, Department of Pediatrics, Nationwide Children's Hospital/The Ohio State University, 700 Children's Drive, Columbus, OH 43205, USA.
Background And Objectives: The purpose of this study was to develop national consensus based on expert opinion on the optimal outpatient care model of pediatric psychogenic nonepileptic seizures (PNES).
Methods: A core working group (CWG) within the PNES special interest group of the Pediatric Epilepsy Research Consortium was established. The CWG developed a rigorous scoring rubric to select experts in pediatric PNES within the United States of America and a three-round Delphi study was conducted to assess consensus on key components of the management of pediatric PNES in the outpatient setting.
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