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Biallelic variants in AGRN with recurrent pregnancy losses in a family with a fetal akinesia deformation sequence.
Clin Dysmorphol
January 2025
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Introduction: Agrin, encoded by AGRN, plays a vital role in the acetylcholine receptor clustering pathway, and any defects in this pathway are known to cause congenital myasthenic syndrome (CMS) 8 in early childhood with variable fatigable muscle weakness. The most severe or lethal form of CMS manifests as a fetal akinesia deformation sequence (FADS). To date, only one family has been reported with an association of null variants in AGRN and a lethal FADS.
View Article and Find Full Text PDFPaternal alcohol exposure affected offspring mesenteric artery via ROS-Cacna1c and DNA hypomethylation.
J Hypertens
December 2024
Institute for Fetology, The First Affiliated Hospital of Soochow University, Jiangsu.
Background: Paternal preconception alcohol exposure affects fetal development; however, it is largely unknown about the influences on offspring vasculature and mechanisms.
Methods: Offspring born form paternal rats treated with alcohol or water before pregnant was raised until 3 months of age. Vessel tone of mesenteric arteries was detected using myograph system; whole-cell calcium channel current in smooth muscle cells was tested using patch-clamp; molecule expressions were detected with real-time PCR, western blotting, and Dihydroethidium (DHE); DNA methylations were determined using targeted bisulfate sequencing assay.
Transcriptional dynamics during karyogamy in rice zygotes.
Development
January 2025
Department of Biological Sciences, Tokyo Metropolitan University, Hachioji, Tokyo, Japan.
Upon fertilization, male and female nuclei fuse to form the zygotic nucleus in angiosperms. Karyogamy is considered to be essential for proper embryogenesis; however, the transcriptional dynamics during karyogamy in plant zygotes remain unclear. In this study, we performed a single-cell transcriptome analysis of rice zygotes at six early developmental stages (15 min, 30 min, 1 h, 2 h, 4 h, and 6 h after gamete fusion) to reveal gene expression profiles during karyogamy in plant zygotes.
View Article and Find Full Text PDFFactors affecting behaviors during complementary feeding in infants and children aged 6-24 months.
PLoS One
January 2025
Vitamince Nutrition Counseling, Maltepe/Istanbul, Turkey.
The process that begins around the 6th month of life and continues until the 24th month is called the complementary feeding period. During this period, infants and children start receiving foods that complement breast milk or formula for the first time. The psychosocial factors the infants and children encounter during this period may affect their growth and health in later life.
View Article and Find Full Text PDFUnderstanding the Impact of Obesity and Parental Blood Pressure in Identifying Optimal Hypertension Screening Group in Youth.
Cureus
November 2024
Department of Pediatrics, Sestre milosrdnice University Hospital Center, Zagreb, HRV.
Background The rising incidence of hypertension (HTN) in pediatric patients imposes the need for its timely recognition by finding the optimal screening population. The goal of our study was to explore the ambulatory blood pressure (BP) parameters in selected groups of obese children and adolescents with different obesity levels and quantify the impact of parental hypertension (PH) on their blood pressure (BP) values. Methods This retrospective study included 176 obese Caucasian patients, 94 (53.
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