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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
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 PDFA meta-core outcome set for stillbirth prevention and bereavement care following stillbirth in LMIC.
BMJ Glob Health
January 2025
Centre for Biostatistics, The University of Manchester, Manchester Academic Health Science Centre, Manchester, UK
Study Objective: Stillbirth is burdensome in low-income and middle-income countries (LMICs), especially in sub-Saharan Africa and South Asia. Currently, there are two core outcome sets (COS) for stillbirth (prevention and bereavement care), but these were developed with limited reflection of the needs of parents in an LMIC setting. To address this gap, the objective of this study was to establish consensus on the most important outcomes for stillbirth prevention and bereavement care following stillbirth in sub-Saharan Africa and South Asia.
View Article and Find Full Text PDFA fatal case of accidental asphyxia following nitrous oxide inhalation and alcohol consumption.
Forensic Sci Med Pathol
January 2025
Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
Nitrous oxide (NO) abuse is becoming increasingly popular worldwide. Moreover, the use of NO combined with other substances, such as alcohol, is also common. Accidental deaths associated with NO abuse are rare in forensic practice, with most fatal cases involving continuous inhalation equipment or exposure in a confined space.
View Article and Find Full Text PDFPostnatal experiences of teenage mothers in selected communities in Central Region, Ghana: a phenomenological study.
BMC Public Health
January 2025
Department of Population and Health, College of Humanities and Legal Studies, University of Cape Coast, Cape Coast, Ghana.
Background: Teenage childbirth is an issue of social and public health concern in Ghana, with high prevalence in some regions, including the Central Region. There is a dire need to understand the experiences of teenagers beyond pregnancies to facilitate comprehensive sexual and reproductive health information and service provision. We explored the postnatal experiences of teenage mothers in five communities in the Central Region of Ghana.
View Article and Find Full Text PDFThis study investigated two cases. Case 1 involves a 53-year-old man who suffered from sleep apnea syndrome at age 48. Moreover, he was involved in a rear-end collision while driving and was admitted to the hospital at age.
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