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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 PDFInfluence of the metabolic control in patients with type 1 diabetes on their oral health status and the need for orthodontic treatment in a group of Spanish children (aged 6-12 years): a cross-sectional study.
BMC Oral Health
January 2025
Department of Surgery, Faculty of Medicine, University of Salamanca, Salamanca, Spain.
Background: The aim of this study was to analyze the influence of good metabolic control, based on glycosylated hemoglobin (HbA1c) levels, on oral health status and the need for orthodontic treatment in children.
Methods: This cross-sectional study was carried out at the Dental Clinic of the University of Salamanca (Spain) during the years 2020 and 2024. A total of 260 children with type 1 diabetes (aged between 6 and 12 years) participated.
Hydrocephalus, healing, and disrupted daily living: exploring maternal experiences at Queen Elizabeth Central Hospital in Blantyre, Malawi.
Malawi Med J
January 2025
Department of Health Systems and Policy, School of Global and Public Health, Kamuzu University of Health Sciences, Blantyre, Malawi.
Background: Each year, nearly 400,000 new cases of paediatric hydrocephalus are estimated to occur worldwide, and almost half of these cases are expected to affect children in Africa. At Queen Elizabeth Central Hospital (QECH), an urban tertiary hospital in Blantyre, Malawi, located in south-east Africa, around 200 children received neurosurgical treatment for hydrocephalus in 2023. These children require lifelong follow-up and care, which places significant demands on their caregivers.
View Article and Find Full Text PDFChildhood BMI trajectories and sociodemographic factors in an Italian pediatric population.
Sci Rep
January 2025
Unit of Biostatistics, Epidemiology and Public Health, Department of Cardio-Thoraco- Vascular Sciences and Public Health, University of Padua, Padua, Italy.
Childhood obesity is a growing global concern due to its long-term health consequences. Yet, more research relying on multiple time-point BMI measurements is warranted to gain further insight into obesity's temporal trends. We aimed to identify BMI trajectories in children aged 2-10 years and evaluate their association with sociodemographic factors.
View Article and Find Full Text PDFSupporting social justice through equity-based actions for a sustainable future in animal genetics (at the 39th International Society for Animal Genetics Conference).
Anim Genet
February 2025
College of Agriculture and Environmental Sciences, University of South Africa Science, Johannesburg, South Africa.
The 39th International Society for Animal Genetics conference (ISAG) was held for the first time in Africa under the theme 'Animal genetics for a sustainable future' in 2023. The conference convened scientists, policy makers, industry professionals, and students from interdisciplinary fields to share and discuss the latest developments in the space of animal genetics. Since its inception as a society, ISAG has sought to provide a platform advocating for a just and equitable future in animal genetics.
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