Fetal motor bursts were recorded in pregnant women at 11-18, 20-24 and 30-32 weeks of pregnancy. It was stated that spontaneous motor activity in human fetus is similar to autogenic periodic motor excitation observed in other species of vertebrates, i.e. presence of the main rest-activity circles with a period near 1 minute, the existence of rhythmic components with 6-8-second intervals during active phases and decreasing of quantity of excitation bursts with age.
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Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFCureus
December 2024
Pediatrics, Carol Davila University of Medicine and Pharmacy, Bucharest, ROU.
Extreme prematurity involves a series of complications that a multidisciplinary team should manage. Taking into account the risks related to premature newborns, such as maternal-fetal infections, intrauterine growth restriction, and certain comorbidities associated with young gestational age, our objective is to highlight the importance of a multidisciplinary team in approaching cases with an unfavorable prognosis. This is a case report of an extremely preterm newborn who came from a high-risk pregnancy and needed long-term hospitalization in the Neonatal Intensive Care Unit (NICU) and mechanical ventilation.
View Article and Find Full Text PDFChildren (Basel)
January 2025
Department of Pediatrics, Division of Pediatric Endocrinology, Izmir Faculty of Medicine, University of Health Sciences, 35210 Izmir, Turkey.
Molecular, genetic, and technological advances have led to increased knowledge regarding neonatal thyroid hormone metabolism disorders. Maternal and fetal hypothyroidism, which can cause psychomotor dysfunction syndromes or low IQ levels, can lead to brain damage, reduced fetal growth and incidental fetal death. The treatment of congenital hypothyroidism detected by screening programs performed during the neonatal period provides normalization of growth, IQ levels, and the physical, mental, and motor development of infants.
View Article and Find Full Text PDFBiomedicines
December 2024
School of Health Sciences, IMU University, Kuala Lumpur 57000, Malaysia.
Background/objectives: (ALS), or Lou Gehrig's disease, is a debilitating, incurable neurodegenerative disorder characterised by motor neuron death in the spinal cord, brainstem, and motor cortex. With an incidence rate of about 4.42 cases per 100,000 people annually, ALS severely impacts motor function and quality of life, causing progressive muscle atrophy, spasticity, paralysis, and eventually death.
View Article and Find Full Text PDFFront Pharmacol
January 2025
Department of Fetal Medicine, The First Affiliated Hospital of Jinan University, Guangzhou, China.
Onasemnogene Abeparvovec (Zolgensma) is a gene therapy for the treatment of Spinal Muscular Atrophy (SMA) with improved motor neuron function and the potential for a singular treatment. Information on its adverse drug reactions is mainly from clinical trials and real-world studies with extensive sample sizes are lacking. In this study, we analyzed the U.
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