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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 PDFThe Explo'Santé mixed methods protocol: an interventional research school health promotion project in France.
Arch Public Health
January 2025
Laboratory Health Systemic Process (P2S), Research Unit, UR4129, University Claude Bernard Lyon 1, University of Lyon, 11 rue Guillaume Paradin, Lyon, 69008, France.
Background: According to WHO, "noncommunicable diseases (NCDs) kill 41 million people" annually, as the primary cause of death globally. WHO's Global Action Plan for the prevention and control of NCDs 2013-2020 (extended) tackles this issue and its implications regarding inequalities between countries and populations. Based on combined behavioural, environmental and policy approaches, health promotion aims to reduce health inequities and address health determinants through 3 strategies: education, prevention and protection.
View Article and Find Full Text PDFInvestigating impact of consulting midwives on maternal rights charter on perception of respectful maternity care and postpartum blues among postpartum women: a quasi-experimental study.
BMC Med Ethics
January 2025
Department of Midwifery, Nursing and Midwifery Faculty, Bushehr University of Medical Sciences, Bushehr, Iran.
Introduction: Despite the existing reports on mistreatment and disrespectful maternal care, few studies have investigated interventions to mitigate this issue. The present study aims to assess the impact of consulting midwives on maternal rights charter on perception of respectful maternity care and postpartum blues among postpartum women in two hospitals in southern Iran.
Methodology: This quasi-experimental study was conducted on 437 postpartum women (217 mothers before the intervention and 220 mothers after the intervention) and 44 midwives working in the maternity ward of two hospitals affiliated to Bushehr University of Medical Sciences in 2023-2024.
CT-sensitized nanoprobe for effective early diagnosis and treatment of pulmonary fibrosis.
J Nanobiotechnology
January 2025
Nurturing Center of Jiangsu Province for State Laboratory of AI Imaging & Interventional Radiology; Basic Medicine Research and Innovation Center of Ministry of Education, Medical School of Southeast University, 87 Dingjiaqiao, Nanjing, 210009, China.
Early diagnosis is critical for providing a timely window for effective therapy in pulmonary fibrosis (PF); however, achieving this remains a significant challenge. The distinct honeycombing patterns observed in computed tomography (CT) for the primary diagnosis of PF are typically only visible in patients with moderate to severe disease, often leading to missed opportunities for early intervention. In this study, we developed a nanoprobe designed to accumulate at fibroblastic foci and loaded with the CT sensitizer iodide to enable effective early diagnosis of PF.
View Article and Find Full Text PDFEvaluation of undergraduate forensic medicine education in Nepal: a critical analysis using Schwab's five commonplaces and Schubert's curriculum images.
BMC Med Educ
January 2025
Department of Forensic Medicine, Karnali Academy of Health Sciences, Chandannath, Jumla, 21200, Nepal.
Following the establishment of Nepal's first medical college in 1972, forensic medicine was introduced in 1978. To date, 25 medical colleges in the country have included forensic medicine as a compulsory subject in the undergraduate medical curriculum. Although this subject has been introduced into the medical curriculum, the outcome is unsatisfactory, as reflected by the poor medico-legal reports prepared by newly graduated medical students.
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