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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.
Medical 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 PDFEffectiveness and safety of adalimumab biosimilar in patients with inflammatory bowel disease.
Farm Hosp
January 2025
Servicio de Farmacia, Hospital Universitario La Plana, Castellón, España.
Background: Adalimumab biosimilar MSB11022 (Idacio®) has been approved for the same indications as its originator (Humira®), based on findings from clinical trials in plaque psoriasis. Data on its efficacy and safety in inflammatory bowel disease, however, are scarce.
Methods: Retrospective, observational study of 44 patients with inflammatory bowel disease: 30 were treated with originator adalimumab, five were directly started on MSB11022, and nine switched from originator to biosimilar adalimumab.
Nursing Care of the Patient With Epidural Analgesia.
Pain Manag Nurs
January 2025
Independent Consultant, Wilmington, NC.
Purpose: Although nurses frequently are responsible to care for and ensure safety of patients receiving epidural analgesia resources to guide them in this care are difficult to locate and not inclusive of all aspects of such care. The purpose of this manuscript is to provide a comprehensive resource to provide information for nurses when caring for patients receiving analgesia via an epidural catheter.
Methods: Literature and guidelines were reviewed to determine current standards of practice and guidance regarding care of patients receiving epidural analgesia.
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