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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 PDFParental Acceptance of Moderate Sedation and Associated Techniques for Behavior Management in Saudi Arabia: A Cross-Sectional Study.
Patient Prefer Adherence
January 2025
Department of Pediatric Dentistry and Orthodontics, College of Dentistry, King Saud University, Riyadh, Saudi Arabia.
Purpose: This study aimed to evaluate the acceptance of moderate sedation (MS) as a behavior guidance technique (BGT) method among Saudi parents, and also assess their acceptance of other BGTs, including parental separation, papoose board (PB), and nitrous oxide (NO), used in conjunction with MS.
Patients And Methods: This cross-sectional study was conducted at the Dental University Hospital, King Saud University, Riyadh, Saudi Arabia. It involved Saudi parents of children aged 3-5 years undergoing dental treatment with MS, alongside additional BGTs such as parental separation, PB, and NO.
Adverse childhood experiences, sleep quality/duration and later-life lower extremity function among older adults in China: evidence from CHARLS.
BMC Psychol
January 2025
College of Physical Education, Shandong Normal University, Jinan, 250358, China.
Objective: This study aimed to explore the relationship between adverse childhood experiences (ACEs), sleep, and lower extremity function in older adults using a nationally representative cohort.
Methods: This study included 4,439 participants aged 60 years or older (mean age: 67.2 ± 5.
Protocol for visual-acoustic intervention with service delivery in-person and via telepractice (VISIT) non-inferiority trial for residual speech sound disorder.
BMC Pediatr
January 2025
Department of Applied Statistics, Social Science, and the Humanities, New York University, New York, New York, USA.
Background: Residual speech sound disorder (RSSD) is a high-prevalence condition that negatively impacts social and academic participation. Telepractice service delivery has the potential to expand access to technology-enhanced intervention methods that can help remediate RSSD, but it is not known whether remote service delivery is associated with a reduction in the efficacy of these methods. This project will systematically measure the outcomes of visual-acoustic biofeedback intervention when delivered in-person or online.
View Article and Find Full Text PDFFirst-Attempt Success in Ultrasound-Guided vs Standard Peripheral Intravenous Catheter Insertion: The EPIC Superiority Randomized Clinical Trial.
JAMA Pediatr
January 2025
Vascular Assessment and Management Service, Department of Anaesthesia and Pain, Queensland Children's Hospital, Children's Health Queensland Hospital and Health Service, Queensland, Australia.
Importance: Pediatric peripheral intravenous catheter (PIVC) insertion can be difficult and time-consuming, frequently requiring multiple insertion attempts and often resulting in increased anxiety, distress, and treatment avoidance among children and their families. Ultrasound-guided PIVC insertion is a superior alternative to standard technique (palpation and visualization) in high-risk patients.
Objective: To compare first-time insertion success of PIVCs inserted with ultrasound guidance compared with standard technique (palpation and visualization) across all risk categories in the general pediatric hospital population.
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