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High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Hum Genomics
January 2025
Department of Endocrine and Metabolic Diseases, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.
Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.
Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).
Discovery of robust and highly specific microbiome signatures of non-alcoholic fatty liver disease.
Microbiome
January 2025
Department of Microbiome Dynamics, Leibniz Institute for Natural Product Research and Infection Biology - Hans Knöll Institute, Beutenbergstraße 11A, Jena, 07745, Germany.
Background: The pathogenesis of non-alcoholic fatty liver disease (NAFLD) with a global prevalence of 30% is multifactorial and the involvement of gut bacteria has been recently proposed. However, finding robust bacterial signatures of NAFLD has been a great challenge, mainly due to its co-occurrence with other metabolic diseases.
Results: Here, we collected public metagenomic data and integrated the taxonomy profiles with in silico generated community metabolic outputs, and detailed clinical data, of 1206 Chinese subjects w/wo metabolic diseases, including NAFLD (obese and lean), obesity, T2D, hypertension, and atherosclerosis.
Human PBMC-based humanized mice exhibit myositis features and serve as a drug evaluation model.
Inflamm Regen
January 2025
Oncology & Immunology Unit, Research Division, Mitsubishi Tanabe Pharma Corporation, Kanagawa, 227-0033, Japan.
Idiopathic inflammatory myopathies (IIMs) are a group of autoimmune disorders characterized by immune cell infiltration of muscle tissue accompanied by inflammation. Treatment of IIMs is challenging, with few effective therapeutic options due to the lack of appropriate models that successfully recapitulate the features of IIMs observed in humans. In the present study, we demonstrate that immunodeficient mice transplanted with human peripheral blood mononuclear cells (hPBMCs) exhibit the key pathologic features of myositis observed in humans and develop graft-versus-host disease.
View Article and Find Full Text PDFPsychological impact and coping mechanisms among sudanese medical students: a study on anxiety, depression, behavioral, and cognitive changes post COVID-19 lockdown and ongoing conflict.
BMC Psychol
January 2025
Doud Research Group, Khartoum, Sudan.
Introduction: Mental health is crucial for overcoming obstacles, completing tasks, and contributing to society. Mental, social, and cognitive healths are included. In demanding fields like medicine, academic pressure can cause exhaustion, poor performance, and behavioral changes.
View Article and Find Full Text PDFThe status of care for youth with type 1 diabetes within and coming from humanitarian crises settings: a narrative review.
Confl Health
January 2025
School of Population Health, RCSI University of Medicine and Health Sciences, Dublin, Ireland.
Background: Humanitarian crises bring unique, and potentially growing challenges to people with type 1 diabetes (T1D). We aimed to determine, in youth with T1D (mean age (± 1SD) 0-17.9 years) within and coming from humanitarian crises settings (HCS), the reported prevalence that meet international consensus targets for glycaemic, blood pressure and lipid management, and incidence of severe hypoglycaemia or diabetic ketoacidosis.
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