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SOCS1 deficiency-crossroads of autoimmunity and autoinflammation-two case reports.
Front Pediatr
January 2025
Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University and University Hospital, Duesseldorf, Germany.
Suppressors of cytokine signaling (SOCS) proteins play a critical role in regulating immune signaling pathways. Deficiency of SOCS1 leads to various autoimmune pathologies. We present two unrelated patients with distinct clinical manifestations.
View Article and Find Full Text PDFChoroid plexus-targeted viral gene therapy for alpha-mannosidosis, a prototypical neurometabolic lysosomal storage disease.
Hum Mol Genet
January 2025
Section on Translational Neuroscience, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA.
The choroid plexuses (CP) are highly vascularized structures that project into the ventricles of the vertebrate brain. The polarized epithelia of the CP produce cerebrospinal fluid by transporting water and ions into the ventricles from the blood and normally secrete a large number of proteins. We assessed the feasibility of selective CP transduction with recombinant adeno-associated virus (rAAV) gene therapy vectors for treatment of lysosomal storage disease (LSD), a broad category of neurometabolic illness associated with significant burdens to affected patients and their families.
View Article and Find Full Text PDFAnything but small: Microarousals stand at the crossroad between noradrenaline signaling and key sleep functions.
Neuron
January 2025
Division of Glial Disease and Therapeutics, Center for Translational Neuromedicine, University of Copenhagen, Copenhagen, Denmark; Center for Translational Neuromedicine, University of Rochester Medical Center, Rochester, NY, USA. Electronic address:
Continuous sleep restores the brain and body, whereas fragmented sleep harms cognition and health. Microarousals (MAs), brief (3- to 15-s-long) wake intrusions into sleep, are clinical markers for various sleep disorders. Recent rodent studies show that MAs during healthy non-rapid eye movement (NREM) sleep are driven by infraslow fluctuations of noradrenaline (NA) in coordination with electrophysiological rhythms, vasomotor activity, cerebral blood volume, and glymphatic flow.
View Article and Find Full Text PDFImpaired lipid homeostasis and elevated lipid oxidation of erythrocyte membrane in adolescent depression.
Redox Biol
January 2025
Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai, China; Shanghai Mental Health Center, Shanghai Key Laboratory of Psychiatry Disorders, Shanghai Jiao Tong University, Shanghai, China. Electronic address:
Adolescent depression is a globally concerned mental health issue, the pathophysiological mechanisms of which remain elusive. Membrane lipids play a crucial role in brain development and function, potentially serving as a crossroad for the abnormalities in neurotransmitters, neuroendocrine, inflammation, oxidative stress, and energy metabolism observed in depressed adolescents. The primary aim of this study was to investigate the erythrocyte membrane lipid profile in adolescent depression.
View Article and Find Full Text PDFYoung Adults with Type 1 Diabetes' Clinical Outcomes and Satisfaction Related to the Use of Videoconferencing for Type 1 Diabetes Healthcare: A Narrative Review.
Diabetes Ther
January 2025
Departamento de Endocrinología y Metabolismo, Unidad de Investigación en Enfermedades Metabolicas, Instituto Nacional de Ciencias Médicas y Nutrición, Salvador Zubirán, Mexico City, Mexico.
Introduction: Young adulthood is well documented as being a particularly challenging area of type 1 diabetes (T1D) healthcare. Many young adults with T1D (YAT1D) are distracted from effective disease self-management; T1D healthcare service engagement can be problematic and inconsistent, and high rates of unplanned healthcare contacts prevail. Video conferencing use can facilitate services to be flexible and responsive.
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