The physiological mean concentrations of T3, T4 an TSH in 150 healthy children aged from 1 month to 2 years of life decreased gradually with age. The statistically significant difference was observed only in T3 levels between the first and second year of life. The remaining parameters did not show statistically significant differences.
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Orphanet J Rare Dis
January 2025
Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Purpose: Severe combined immunodeficiency (SCID) is a set of rare monogenic inherited diseases that together represent the most severe form of the primary immunodeficiency disease phenotype. Preimplantation genetic testing for monogenic defects (PGT-M) is an effective reproductive technology strategy to prevent disease-causing gene mutations from being transmitted to offspring. The aim of this study was to report the use of PGT-M strategy based on karyomapping in four families to avoid the birth of SCID children.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
January 2025
School of Medicine, The International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University, Shanghai, 200030, China.
Background: Intrahepatic cholestasis of pregnancy (ICP) is the most common liver disorder associated with pregnancy and is usually diagnosed based on high serum bile acid. However, the pathogenesis of ICP is unclear. Ferroptosis has been reported as an iron-dependent mechanism of cell death.
View Article and Find Full Text PDFBMC Public Health
January 2025
Department of Pediatrics, Faculty of Medicine, University of MalayaUniversiti Malaya, Kuala Lumpur, Wilayah Persekutuan Kuala Lumpur, 50603, Malaysia.
Background: Effective and feasible large-scale interventions are urgently needed to reverse the current rise in childhood obesity. The objective of this study was to evaluate the efficacy of a multicomponent intervention program, MyBFF@school, on anthropometric indices and body composition metrics among overweight and obese adolescent schoolchildren in Malaysia.
Methods: This is a cluster randomized controlled trial which involved schoolchildren aged 13, 14 and 16 years old from 15 out of 415 government secondary schools in central Peninsular Malaysia which were randomly assigned into six intervention (N = 579 schoolchildren) and nine control (N = 462 schoolchildren).
Commun Med (Lond)
January 2025
Department of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA.
Background: Multiple sulfatase deficiency (MSD) is an exceptionally rare neurodegenerative disorder due to the absence or deficiency of 17 known cellular sulfatases. The activation of all these cellular sulfatases is dependent on the presence of the formylglycine-generating enzyme, which is encoded by the SUMF1 gene. Disease-causing homozygous or compound heterozygous variants in SUMF1 result in MSD.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Psychiatry and Behavioral Sciences, School of Medicine, Stanford University, 401 Quarry Road, Stanford, CA, 94305, USA.
Background: Intermittent hypoxia, a consequence of sleep-disordered breathing (SDB), may contribute to an increased risk of cognitive decline. However, the association between SDB and cognition remains highly variable.
Methods: Fifty-two community-dwelling healthy older adults (28 women) were recruited.
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