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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.
Likes and Hashtags: Exploring the Potential Relationship Between Social Media use and the Emotional Wellbeing of Oncology Professionals.
Pediatr Blood Cancer
January 2025
Lifespan Cancer Institute and Legorreta Cancer Center at Brown University, Providence, Rhode Island, USA.
Purpose: To explore the potential relationship between social media (SoMe) and burnout or overall wellbeing within the field of oncology.
Design: A cross-sectional study of adult and pediatric oncology professionals conducted using an anonymous electronic survey. The survey was disseminated through the Children's Oncology Group (COG) and the SWOG Cancer Research Network (SWOG) member listservs.
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.
Hematopoietic stem cell transplantation in inborn errors of metabolism-a retrospective analysis on behalf of the pediatric disease working party from the Brazilian Society of Bone Marrow Transplantation and Cellular Therapy.
Bone Marrow Transplant
January 2025
Instituto de Pesquisa Pelé Pequeno Príncipe/Faculdades Pequeno Príncipe, Curitiba, Brazil.
Hematopoietic stem cell transplantation (HSCT) is an established treatment for selected patients with inborn errors of metabolism. In this first report from the PDWP-SBTMO, we included 105 patients transplanted between 1988 and 2021 across six Brazilian HSCT centers. The most prevalent diseases were X-linked adrenoleukodystrophy (n = 61) and mucopolysaccharidosis (type I n = 20; type II n = 10), with a median age at HSCT of 8.
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