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| http://dx.doi.org/10.3233/JND-200555 | DOI Listing |
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Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.
Hum Genet
January 2025
Division of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-Ku, Tokyo, 152-8902, Japan.
There are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic testing. We systematically explored the genetic causes of undiagnosed syndromic hearing loss using a combination of whole exome sequencing (WES) and a phenotype similarity search system called PubCaseFinder. Fifty-five families with syndromic hearing loss of unknown cause were analyzed using WES after prescreening of several deafness genes depending on patient clinical features.
View Article and Find Full Text PDFAccelerometry-assessed sleep clusters and obesity in adolescents and young adults: a longitudinal analysis in GINIplus/LISA birth cohorts.
World J Pediatr
January 2025
Institute of Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Ingolstädter Landstraße 1, 85764, Neuherberg, Germany.
Background: Some studies have revealed various sleep patterns in adolescents and adults using multidimensional objective sleep parameters. However, it remains unknown whether these patterns are consistent from adolescence to young adulthood and how they relate to long-term obesity.
Methods: Seven-day accelerometry was conducted in German Infant Study on the influence of Nutrition Intervention PLUS environmental and genetic influences on allergy development (GINIplus) and Influence of Lifestyle factors on the development of the Immune System and Allergies in East and West Germany (LISA) birth cohorts during the 15-year and 20-year follow-ups, respectively.
Integration of physical and mental health services for children and young people with eating disorders and functional symptom disorders: discrete choice experiment.
BMC Health Serv Res
January 2025
Primary Care Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK.
Background: Given the increasing recognition of the value of greater integration of physical and mental health services for children and young people, we aimed to evaluate preferences among parents for the characteristics associated with integrated health service provision for two conditions (eating disorders, functional symptom disorders).
Methods: Two discrete choice experiments (DCEs) were conducted, using electronic surveys. Participants were adult parents of children and young people.
Myelitis associated with glial fibrillary acidic protein IgG: characterization and comparison with aquaporin-4 IgG and myelin oligodendrocyte glycoprotein IgG myelitis.
BMC Neurol
January 2025
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, 1 East Jianshe Road, Zhengzhou, China.
Background: Awareness of the characteristics of glial fibrillary acidic protein autoantibody (GFAP-IgG) associated myelitis facilitates early diagnosis and treatment. We explored features in GFAP-IgG myelitis and compared them with those in myelitis associated with aquaporin-4 IgG (AQP4-IgG) and myelin oligodendrocyte glycoprotein IgG (MOG-IgG).
Methods: We retrospectively reviewed data from patients with GFAP-IgG myelitis at the First Affiliated Hospital of Zhengzhou University and Henan Children's Hospital from May 2018 to May 2023.
Development of a standardized patient-reported clinical questionnaire for children with spinal pain.
BMC Med Res Methodol
January 2025
Medical Spinal Research Unit, Spine Centre of Southern Denmark, University Hospital of Southern Denmark, Kolding, Denmark.
Background: Spinal pain affects up to 30% of school-age children and can interfere with various aspects of daily life, such as school attendance, physical function, and social life. Current assessment tools often rely on parental reporting which limits our understanding of how each child is affected by their pain. This study aimed to address this gap by developing MySpineData-Kids ("MiRD-Kids"), a tailored patient-reported questionnaire focusing on children with spinal pain in secondary care (Danish hospital setting).
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