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A case report of -related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review.
Front Pediatr
December 2024
Department of Pediatric Neurology, Guiyang Maternal and Child Health Care Hospital, Guiyang, China.
Recently, mutations have been identified in six genes (, , , , and ) encoding proteins in the Glycosyl phosphatidylinositol(GPI)-anchor-synthesis pathway in individuals with hyperphosphatasia with impaired intellectual development syndrome(HPMRS). Reports involving the rare pathogenic gene, post-GPI attachment to proteins 2 () are quite limited. In this study, we reported two patients with variants related neurodevelopmental disorders from Asian population.
View Article and Find Full Text PDFThe Role of hCG and Histamine in Emesis Gravidarum and Use of a Chewing Gum Containing Vitamin C as a Treatment Option: A Double-Blinded, Randomized, Controlled Trial.
J Clin Med
August 2024
Division of Obstetrics and Feto-Maternal Medicine, Department of Obstetrics and Gynecology, Medical University of Vienna, A-1090 Vienna, Austria.
Nausea and vomiting in pregnancy (NVP), or emesis gravidarum, is a frequent complication of early gestation with unclear causes, suspected to involve genetic, hormonal, and gastrointestinal factors. Our study investigated the association of human chorionic gonadotropin (hCG), histamine, diamine oxidase (DAO), thyroxine and pyridoxine and the severity of NVP symptoms and assessed the efficacy of a vitamin C-containing chewing gum as a potential NVP treatment. In this prospective, double-blinded, randomized, controlled trial, 111 participants were assigned to receive vitamin C-containing chewing gum, placebo gum, or no treatment at two follow-ups during early pregnancy.
View Article and Find Full Text PDFThe injection of maternal B complex vitamin during the transition period: The impact on performance, thyroid hormones levels and immunological parameters in the Sannen goats and their kids, as well as the faeces status of newborn kids.
Vet Med Sci
September 2024
Faculty of Veterinary Medicine, Islamic Azad University, Babol Branch, Babol, Iran.
Background: It is proven that B vitamins through promote a wide range of metabolic pathways in animals as cofactors improve animal performance.
Objectives: This study was conducted to investigate the impacts of maternal B complex vitamin injection on performance and plasma parameters in goats and their offspring, as well as the faeces status of newborn kids.
Methods: In this research, the pregnant goats (3 years old) were randomly divided into two groups: the control group (without B complex vitamin injection) and the B complex vitamin group (5 mL B complex vitamin injection per animal).
One-carbon metabolite supplementation increases vitamin B12, folate, and methionine cycle metabolites in beef heifers and fetuses in an energy dependent manner at day 63 of gestation.
J Anim Sci
January 2024
Department of Animal Sciences, North Dakota State University, Fargo, ND 58108, USA.
One-carbon metabolites (OCM) are metabolites and cofactors which include folate, vitamin B12, methionine, and choline that support methylation reactions. The objectives of this study were to investigate the effects of moderate changes in maternal body weight gain in combination with OCM supplementation during the first 63 d of gestation in beef cattle on (1) B12 and folate concentrations in maternal serum (2) folate cycle intermediates in maternal and fetal liver, allantoic fluid (ALF), and amniotic fluid (AMF) and (3) metabolites involved in one-carbon metabolism and related metabolic pathways in maternal and fetal liver. Heifers were either intake restricted (RES) and fed to lose 0.
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