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Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.
Sci Immunol
January 2025
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.
View Article and Find Full Text PDFClinical and Electromyographic Characteristics of Pediatric Laryngeal Dyskinesia.
Otolaryngol Head Neck Surg
January 2025
Divisions of Pediatric Surgery and Otolaryngology-Head and Neck Surgery, The Stollery Children's Hospital and University of Alberta Hospital, Edmonton, Alberta, Canada.
Objective: To report the clinical and laryngeal electromyographic (LEMG) parameters of children with laryngeal dyskinesia (LD) and its prevalence among laryngeal mobility disorder (LMD) requiring full airway examination.
Study Design: Retrospective uncontrolled study.
Setting: Tertiary pediatric center.
The impact of COVID-19-induced distance learning on physical activity and dietary habits of female students in the Qassim Region.
J Family Med Prim Care
December 2024
Department of Food Science and Human Nutrition, College of Agriculture and Food, Qassim University, Buraydah, Saudi Arabia.
Background: The COVID-19 pandemic has profoundly affected the physical activity (PA) levels and dietary habits of individuals, particularly children and adolescents in Saudi Arabia, owing to widespread closures and social distancing measures, including school closures.
Methods: A cross-sectional study was conducted to assess the impact of distance learning (DL) on PA and dietary habits among public middle school girls during the pandemic. The Arab Teens Lifestyle Questionnaire (ATLS) was used to assess habitual PA, sedentary behavior, and dietary habits.
Evolving trends in novel sleep tracking and sleep testing technology publications between 2020-2022.
J Clin Sleep Med
January 2025
Indiana University School of Medicine, Indianapolis, Indiana.
Study Objectives: To update sleep medicine providers regarding (1) published research on the uses and performance of novel sleep tracking and testing technologies (2) the use of artificial intelligence to acquire and process sleep data and (3) research trends and gaps regarding the development and/or evaluation of these technologies.
Methods: Medline and Embase electronic databases were searched for studies utilizing screening and diagnostic sleep technologies, published between 2020 and 2022 in journals focusing on human sleep. Studies' quality was determined based on the Study Design criteria of The Oxford Centre for Evidence-Based Medicine Levels of Evidence.
The sleep health composite and chronotype among children and adolescents with type 1 diabetes compared to case-control peers without diabetes.
J Clin Sleep Med
January 2025
Department of Pediatrics, Division of Pediatric Endocrinology, Koç University School of Medicine, İstanbul, Türkiye.
Study Objectives: Our objectives were to compare sleep health composite dimensions and chronotype in children and adolescents with and without type 1 diabetes (T1D) and to explore the relationship between sleep and glycemic variability in T1D.
Methods: The study comprised 84 participants with T1D aged between 6 to 18 years, and age and sex matched by controls. The sleep health composite (SHC) was measured using actigraphy, sleep diaries, and self or parental reports.
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