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Case report: Clinical and genetic characterization of a novel variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings.
Front Psychiatry
December 2024
Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Background: Pathogenic variants in are associated with pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by epileptic seizures, unresponsiveness to standard antiseizure medications (ASM), and a response only to pyridoxine. Here, we report two patients (from a consanguineous family) with neonatal seizures and developmental delay.
Case Presentation: Patient 1 (a 13-year-old girl) was born normally at term.
A comparison of two systems for group housing of gestating sows - effects on productivity, removal, and treatments.
Porcine Health Manag
January 2025
Department of Animal Health and Antimicrobial Strategies, National Veterinary Institute (SVA), Uppsala, 751 89, Sweden.
Background: Group housing of sows has been extensively studied since the EU banned gestation crating. Well-managed group-housing promotes sow welfare, but the impact varies based on factors such as feeding, group characteristics, and environmental features. Adequate floor space, particularly directly post-mixing, is crucial for social interactions, natural behaviours, and to reduce injuries caused by aggression.
View Article and Find Full Text PDFLong-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol.
Orphanet J Rare Dis
January 2025
Division of Pediatric Epileptology, Department of Pediatrics I, Medical Faculty of Heidelberg, Heidelberg University, Heidelberg, Germany.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting multiple organ systems, with a prevalence of 1:6,760-1:13,520 live births in Germany. On the molecular level, TSC is caused by heterozygous loss-of-function variants in either of the genes TSC1 or TSC2, encoding the Tuberin-Hamartin complex, which acts as a critical upstream suppressor of the mammalian target of rapamycin (mTOR), a key signaling pathway controlling cellular growth and metabolism. Despite the therapeutic success of mTOR inhibition in treating TSC-associated manifestations, studies with mTOR inhibitors in children with TSC above two years of age have failed to demonstrate beneficial effects on disease-related neuropsychological deficits.
View Article and Find Full Text PDFImpact of an Antenatal Family-based Behavioral Treatment with a Nutrition and Exercise Lifestyle Intervention Program on Infant Weight-for-length at Birth.
Int J Behav Med
January 2025
R. Samuel McLaughlin Foundation- Exercise and Pregnancy Laboratory, Western University, London, ON, Canada.
Background: World Health Organization (WHO) growth standards, including weight-for-length, are used to monitor infant size. Excessive infant weight-for-length at or above the 85th percentile is a risk for childhood overweight. Although antenatal interventions like the nutrition and exercise lifestyle intervention program (NELIP) have successfully prevented excessive gestational weight gain, strategies to improve the intervention remain of interest.
View Article and Find Full Text PDFQuality improvement on reducing neonatal mortality through intensive Clinical Mentorship Intervention: a case study in Biak Regional Hospital, Papua-Indonesia.
BMJ Open Qual
January 2025
Universitas Gadjah Mada, Yogyakarta, Daerah Istimewa Yogyakarta, Indonesia.
Background: The neonatal mortality rate in Papua Province of Indonesia is unacceptably high. To address the issue, the Ministry of Health and UNICEF Indonesia initiated a hospital mentoring programme from 2014 to 2016 to improve the quality of care and health workers' capacity to provide neonatal care. This study aimed to assess the impact of hospital mentoring on neonatal mortality.
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