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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.
Sedoanalgesia with dexmedetomidine in daily anesthesia practices: a prospective randomized controlled trial.
BMC Anesthesiol
January 2025
Department of Anesthesiology and Reanimation, Faculty of Medicine, Van Yüzüncü Yıl University, Van, Turkey.
Background: Patient safety is important in daily anesthesia practices, and providing deep anesthesia is difficult. Current debates on the optimal anesthetic agents highlight the need for safer alternatives. This study was justified by the need for safer and more effective anesthetic protocols for outpatient hysteroscopic procedures, particularly those conducted outside the operating room.
View Article and Find Full Text PDFComparison of NoSAS score with STOP-Bang and Berlin scores in predicting difficult airway.
BMC Anesthesiol
January 2025
Department of Anesthesiology and Reanimation, Faculty of Medicine, Suleyman Demirel University, Operating Room, Floor:1, Cunur, Isparta, 32260, Turkey.
Background: This study aimed to compare the effectiveness of the NoSAS, STOP-Bang, and Berlin scoring systems, which are utilized to predict obstructive sleep apnea syndrome (OSAS), in forecasting difficult airway management. Additionally, the study sought to determine which of these scoring systems is the most practical and effective for this purpose.
Methods: Following the ethics committee approval, preoperative NoSAS, STOP-Bang, and Berlin scores were calculated for 420 patients aged 18 years and older who were scheduled for tracheal intubation.
ESR Essentials: imaging of common paediatric pulmonary diseases-practice recommendations by the European Society of Paediatric Radiology.
Eur Radiol
January 2025
Departments of Radiology and Nuclear Medicine, Erasmus MC - Sophia Children's Hospital, Rotterdam, the Netherlands.
Chest imaging in children presents unique challenges due to varying requirements across age groups. For chest radiographs, achieving optimal images often involves careful positioning and immobilisation techniques. Antero-posterior projections are easier to obtain in younger children, while lateral decubitus radiographs are sometimes used when expiratory images are difficult to obtain and for free air exclusion.
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