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Unbalanced long-chain fatty acid beta-oxidation in newborns with cystic fibrosis and congenital hypothyroidism.
Mol Genet Metab Rep
March 2025
Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Background: Immediately after birth, adaptation to the extrauterine environment includes an upregulation of fatty acid catabolism. Cystic fibrosis and untreated hypothyroidism exert a life-long impact on fatty acid metabolism, but their influence during this transitional period is unknown. Children and adults with cystic fibrosis exhibit unbalanced fatty acid composition, most prominently a relative deficit of linoleic acid.
View Article and Find Full Text PDFFrom movement to mind: Early fine motor skills are associated with cognitive performance at school age in very preterm infants.
Early Hum Dev
January 2025
Department of Neonatology, Máxima Medical Center, Veldhoven, Noord-Brabant, the Netherlands.
Background: Although preterm birth is associated with deficits in both motor and cognitive functioning, the association between early motor skills and cognitive outcomes at a later age remains underexplored.
Aim: To evaluate associations between motor skills at age 5.5 and cognitive functioning at age 8.
Sox10 is required for systemic initiation of bone mineralization.
Development
January 2025
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Heterozygous variants in SOX10 cause congenital syndromes affecting pigmentation, digestion, hearing, and neural development, primarily attributable to failed differentiation or loss of non-skeletal neural crest derivatives. We report here an additional novel requirement for Sox10 in bone mineralization. Neither crest- nor mesoderm-derived bones initiate mineralization on time in zebrafish sox10 mutants, despite normal osteoblast differentiation and matrix production.
View Article and Find Full Text PDFIntraoperative cardiac arrest in patients undergoing congenital cardiac surgery.
JTCVS Open
December 2024
Division of Cardiovascular Anesthesia, Department of Anesthesiology, Perioperative and Pain Medicine, Texas Children's Hospital, Houston, Tex.
Objective: To describe intraoperative cardiac arrest in patients undergoing congenital heart surgery.
Methods: The Society of Thoracic Surgeons Congenital Heart Surgery Database was queried. Predictors of intraoperative cardiac arrest were assessed using univariate and multivariable analyses.
Cleft palate, congenital heart disease, and developmental delay involving heterozygous mutations found in the patient with attention deficit hyperactivity disorder: a case report.
Front Pediatr
December 2024
Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education (MOE), Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
This case is the first reported patient with a gene mutation who primarily exhibits pronounced inattention as the main manifestation and is diagnosed with ADHD, requiring methylphenidate treatment. It is characterized by unique clinical features that set it apart from previously reported cases with mutations in the gene. Here, we report a female child with a diagnosis of ADHD and comorbidities.
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