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Nonketotic hyperglycinemia (NKH), also known as glycine encephalopathy, is a rare inherited neurometabolic disorder caused by a deficiency in the glycine cleavage enzyme system (GCS), leading to the pathological accumulation of glycine in blood and cerebrospinal fluid (CSF). This case report details a neonate presenting with central apnea, profound hypotonia, and refractory seizures, alongside prenatal findings of polyhydramnios and hiccup-like fetal movements, all strongly suggestive of severe NKH. Diagnostic evaluation confirmed markedly elevated glycine levels in serum and CSF, with a CSF-to-plasma glycine ratio exceeding 0.
View Article and Find Full Text PDFEthylenediamine assist preparation of carbon dots with novel biomass for highly sensitive detection of levodopa.
RSC Adv
January 2025
Key Laboratory of Tropical Biological Resources of Ministry of Education, School of Pharmaceutical Sciences, Collaborative Innovation Center of One Health, Hainan University Haikou 570228 China
Levodopa (l-Dopa), a precursor drug for dopamine has been widely used to treat Parkinson's disease. However, excess accumulation of l-Dopa in the body may cause movement disorders and uncontrollable emotions. Therefore, it is vital to monitor l-Dopa levels in patients.
View Article and Find Full Text PDFAutomated approach for fetal and maternal health management using light gradient boosting model with SHAP explainable AI.
Front Public Health
January 2025
Department of Information and Communication Engineering, Yeungnam University, Gyeongsan, Republic of Korea.
Fetal health holds paramount importance in prenatal care and obstetrics, as it directly impacts the wellbeing of mother and fetus. Monitoring fetal health through pregnancy is crucial for identifying and addressing potential risks and complications that may arise. Early detection of abnormalities and deviations in fetal health can facilitate timely interventions to mitigate risks and improve outcomes for the mother and fetus.
View Article and Find Full Text PDFIs it possible for parents to endure a stillbirth? Initial experiences, perceptions and strategies: individual in-depth interviews in Sweden 2021-2023.
BMC Pregnancy Childbirth
January 2025
Department of Women's and Children's Health, Uppsala University, Uppsala, 751 85, Sweden.
Background: Stillbirth occurs at a rate of 3.0 per thousand in Sweden. However, few studies have focused on the initial experiences of parents facing a stillbirth.
View Article and Find Full Text PDFAt First Sight: Fetal Eye Movements Reveal a Preference for Face-Like Configurations From 26 Weeks of Gestation.
Dev Sci
March 2025
Manibus Lab, Department of Psychology, University of Turin, Turin, Italy.
Previous research indicates that both adults and newborns show enhanced electrophysiological and behavioral responses to schematic face-like configurations (FCs-three dots composing a downward-pointing triangle), as compared to the inverted configurations (ICs). Even fetuses, when exposed to light stimuli projected through the uterine wall, preferentially orient their heads toward FCs rather than ICs. However, when this effect emerges along the third trimester of pregnancy and in relation to the maturation of which brain structures is still unknown.
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