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JAK inhibition decreases the autoimmune burden in Down syndrome.
Elife
December 2024
Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, United States.
Background: Individuals with Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), display clear signs of immune dysregulation, including high rates of autoimmunity and severe complications from infections. Although it is well established that T21 causes increased interferon responses and JAK/STAT signaling, elevated autoantibodies, global immune remodeling, and hypercytokinemia, the interplay between these processes, the clinical manifestations of DS, and potential therapeutic interventions remain ill defined.
Methods: We report a comprehensive analysis of immune dysregulation at the clinical, cellular, and molecular level in hundreds of individuals with DS, including autoantibody profiling, cytokine analysis, and deep immune mapping.
Pediatric Neuroimaging of Multiple Sclerosis and Neuroinflammatory Diseases.
Tomography
December 2024
Department of Radiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Using a pediatric-focused lens, this review article briefly summarizes the presentation of several demyelinating and neuroinflammatory diseases using conventional magnetic resonance imaging (MRI) sequences, such as T1-weighted with and without an exogenous gadolinium-based contrast agent, T2-weighted, and fluid-attenuated inversion recovery (FLAIR). These conventional sequences exploit the intrinsic properties of tissue to provide a distinct signal contrast that is useful for evaluating disease features and monitoring treatment responses in patients by characterizing lesion involvement in the central nervous system and tracking temporal features with blood-brain barrier disruption. Illustrative examples are presented for pediatric-onset multiple sclerosis and neuroinflammatory diseases.
View Article and Find Full Text PDFHealthcare, educational, and vocational transitions in young adults with pediatric-onset disabilities: Associations with social determinants of health.
Arch Phys Med Rehabil
December 2024
Children's Hospital Colorado, Department of Rehabilitation Medicine; University of Colorado Anschutz School of Medicine, Department of Rehabilitation Medicine.
Objective: We aim to describe healthcare, vocational, and educational transitions in young adults with pediatric-onset disabilities and to examine the associations with social determinants of health and depressive symptoms.
Design: This cross-sectional study used multinomial and binary logistic regression to examine the associations of sociodemographic factors and depressive symptoms with healthcare, educational, and vocational transitions.
Setting: Participants were recruited from outpatient specialty clinics in a Rehabilitation Medicine department at a quaternary academic children's hospital.
Barriers and supports for Indigenous youth and young adults with childhood- onset chronic health conditions transitioning from pediatric to adult healthcare: a qualitative study.
Int J Equity Health
December 2024
Indigenous Wellness Core, Alberta Health Service, #306 Anderson Hall, 10959-102 Street, Edmonton, T5H 2V1, AB, Canada.
Background: This study examined the experiences of Indigenous youth and young adults with pediatric onset chronic health conditions who had or were about to transition from pediatric to adult healthcare services. Transition is the process by which youth develop the knowledge and self-management skills needed to manage their health condition, ideally beginning around age 12-13 and continuing until the mid-20s. There is a growing body of literature on healthcare transition, but there is an absence of literature on Indigenous youth, who face additional barriers to accessing healthcare relative to non-Indigenous Canadians.
View Article and Find Full Text PDFQuantitative fibrosis identifies biliary tract involvement and is associated with outcomes in pediatric autoimmune liver disease.
Hepatol Commun
January 2025
Department of Pediatrics, Division of Gastroenterology, Hepatology, and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Article Synopsis
- The study investigates the use of second harmonic generation (SHG) microscopy combined with artificial intelligence to analyze liver fibrosis in children with autoimmune liver disease (AILD) and aims to find prognostic biomarkers for these patients.
- Researchers analyzed liver biopsy slides from 63 patients to evaluate fibrosis patterns and their correlation with clinical outcomes, and found a significant association between certain fibrosis characteristics and increased risk of liver complications and transplantation.
- The findings suggest that SHG and AI can enhance understanding of liver histopathology in AILD, potentially guiding better management and treatment decisions for affected children.
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