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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 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.
Implementation Determinants of PrEP and Behavioral Health Treatment Referral among HIV Test Counselors.
AIDS Behav
January 2025
Department of Public Health Sciences, University of Miami School of Medicine, Miami, FL, USA.
Pre-exposure prophylaxis (PrEP), an effective biomedical prevention intervention, is not sufficiently reaching populations experiencing high HIV incidence. Behavioral health (BH) treatment addressing mental health and substance use similarly requires increased reach to HIV-affected populations. HIV testing is an opportunity to refer individuals to PrEP and BH treatment.
View Article and Find Full Text PDFMedical management pathways for Cushing's disease in pituitary tumors centers of excellence (PTCOEs).
Pituitary
January 2025
Division of Endocrinology, Santiago de Compostela University and Ciber OBN, Santiago, Spain.
Purpose: A recent update of consensus guidelines for the management of Cushing's disease (CD) included indications for medical therapy. However, there is limited evidence regarding their implementation in clinical practice. This study aimed to evaluate current medical therapy approaches by expert pituitary centers through an audit conducted to validate the criteria of Pituitary Tumors Centers of Excellence (PTCOEs) and provide an initial standard of medical care for CD.
View Article and Find Full Text PDFDimensional structure of the Brief Illness Perception Questionnaire and Association with adverse childhood experiences in patients with an implantable cardioverter-defibrillator.
Sci Rep
January 2025
Department of Consultation-Liaison-Psychiatry and Psychosomatic Medicine, University Hospital Zurich, University of Zurich, 8091, Zurich, Switzerland.
Illness perceptions (IP), as measured by the Brief Illness Perception Questionnaire (BIPQ), and adverse childhood experiences (ACE) have been shown to affect the physical and psychological well-being in different patient populations. However, little is known about IP and ACE in patients with an implantable cardioverter-defibrillator (ICD). Our objectives were to investigate the dimensional structure and to evaluate correlates of the BIPQ in ICD patients.
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