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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 PDFThe parental care-seeking behavior of children with osteogenesis imperfecta based on the Anderson's model: a qualitative study.
BMC Nurs
January 2025
Department of Orthopedic, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Objective: This study aims to analyze the medical-seeking behavior of Osteogenesis Imperfecta(OI) children in Southwest China, summarize and analyze the issues in their medical process, and propose corresponding improvement strategies.
Methods: A phenomenological study involving semi-structured interviews with 20 OI caregivers at a tertiary centre for children from March to August 2021 was analyzed thematically, following Anderson's model.
Results: We identified eight themes in the data: 1)Regional disparities of OI management, 2)Big economic burden, 3)High-risk population, 4)Lack of health education, 5)Multiple treatments,6)Strict treatment indications,7)Disappointing therapeutic outcomes,8)Effective or ineffective treatment results.
The impact of universal mental health screening on stigma in primary schools.
Child Adolesc Psychiatry Ment Health
January 2025
Black Dog Institute, University of New South Wales, Sydney, NSW, Australia.
Background: Primary school students struggling with mental health are less likely than high school students to access mental health care, due to barriers such as mental health stigma and low mental health literacy among children and parents. The near universal reach of schools offers a potential avenue to increase access to mental health care through early identification. The potential risks of this approach also need to be understood.
View Article and Find Full Text PDFDevelopment and psychometric evaluation of the Brief Parenting Questionnaire.
BMC Psychol
January 2025
Department of Research and Development, War Child Alliance, Amsterdam, The Netherlands.
Background: There is a paucity of brief self-report parenting measures validated for use in low- and middle-income countries (LMICs). We developed the Brief Parenting Questionnaire (BPQ), a 24-item self-report measure for use with parents of children ages 3-12.
Objective: We describe the development and evaluation of the psychometric properties of the BPQ, which was designed to include two subscales: warm and responsive parenting (WRP) and harsh parenting (HP).
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