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| http://dx.doi.org/10.1001/jamanetworkopen.2023.33467 | DOI Listing |
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Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.
Mol Genet Genomic Med
February 2025
Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.
Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures.
Methods And Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in the FUCA1 gene.
Factors associated with statural growth in pediatric kidney transplant recipients with focus on metabolic acidosis.
Pediatr Nephrol
January 2025
CERTAIN Research Network, Heidelberg, Germany.
Background: We investigated factors associated with post-transplant growth in pediatric kidney transplant (KTx) recipients with a focus on plasma bicarbonate (HCO3) and estimated the effect of alkali treatment on growth.
Methods: In this study of the CERTAIN Registry, data were collected up to 5 years post-transplant. Generalized Additive Mixed Models were applied to assess the association between post-transplant growth and covariates.
Pediatric primary cutaneous CD4+ small/medium T-cell lymphoproliferative disorder: A retrospective analysis and review of the literature.
J Am Acad Dermatol
January 2025
Department of Dermatology, Columbia University Irving Medical Center, New York, NY. Electronic address:
APOE4, Alzheimer's and Periodontal Disease: A scoping review.
Ageing Res Rev
January 2025
Biomedical Research Institute of Lleida Dr. Pifarré Foundation (IRBLLEIDA) - Neuroscience Area - University Hospital Arnau de Vilanova (HUAV) - Department of Medical Basic Sciences, University of Lleida (UdL), Lleida, Spain. Electronic address:
Objective: the ε4 allele of the apolipoprotein E gene (APOE4) is recognized as the primary genetic risk factor for Alzheimer's disease (AD) and has been associated with chronic inflammatory conditions, such as periodontal disease (PD). PD has been identified as having a potentiating effect that favors the development and progression of AD. This scoping review investigates the potential relationship between PD and AD through APOE4 METHODS: the Joanna Briggs Institute methodology was used.
View Article and Find Full Text PDFUsing Laboratory Test Results for Surveillance During a New Outbreak of Acute Hepatitis in 3-Week- to 5-Year-Old Children in the United Kingdom, the Netherlands, Ireland, and Curaçao: Observational Cohort Study.
JMIR Public Health Surveill
December 2024
Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom.
Background: In March 2022, a concerning rise in cases of unexplained pediatric hepatitis was reported in multiple countries. Cases were defined as acute hepatitis with serum transaminases >500 U/L (aspartate transaminase [AST] or alanine transaminase [ALT]) in children aged 16 years or younger. We explored a simple federated data analytics method to search for evidence of unreported cases using routinely held data.
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