Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1683156 | PMC |
Publication Analysis
Top Keywords
Similar Publications
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 PDFParents' awareness towards preventive and interceptive orthodontic treatment.
BMC Res Notes
January 2025
King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.
Objectives: This study aims to assess the awareness and acceptance of preventive and interceptive orthodontic treatment among Saudi perents.
Methods: The study used a 29-question questionnaire, covering parents' demographic data, parents' awareness of malocclusion and habits, and parents' acceptance of treatment. It included visuals of different malocclusions, normal occlusion, and specific habits.
Simulation-based training program effect on pediatric nurses' knowledge and performance regarding heel-prick during newborn blood screening test.
BMC Nurs
January 2025
Faculty of Applied Medical Sciences in Alnamas, University of Bisha, 255, Al Nakhil, Al-Namas, 67714, Saudi Arabia.
Background: One of the best ways to impart important skills to trainees is through simulation-based training, which is more reliable than the conventional clinical examination method. It is used in pediatric nursing training to allow nurses to practice and improve their clinical and conversational skills during an actual child encounter. A heel-prick is a complex psychomotor task that requires skill and knowledge from the pediatric nurse performing the procedure while applying for the National Newborn Screening Program.
View Article and Find Full Text PDFSilicosis prevalence and related issues in India: a scoping review.
J Occup Med Toxicol
January 2025
Indian Council of Medical Research-National Institute for Implementation Research on Non-Communicable Diseases, Jodhpur, 342005, India.
Background: Silicosis remains a major occupational health challenge in India. This review systematically examines the prevalence, risk factors, regional differences, and diagnostic tools specific to India's high-risk industries. Additionally, it assesses policy gaps and offers insights from diverse clinical and qualitative studies, aiming to inform targeted public health interventions and support the development of effective occupational health policies.
View Article and Find Full Text PDFEmergence and polyclonal dissemination of NDM-5/OXA-181 carbapenemase-producing Escherichia coli in the French Indian Ocean territories.
Ann Clin Microbiol Antimicrob
January 2025
Laboratoire de Bactériologie, CHU Félix Guyon, Allée des Topazes, 97400, Saint-Denis, La Réunion, France.
Aim: Located in the Southwest Indian Ocean area (SIOA), the two French overseas territories (FOTs) of Reunion and Mayotte islands are heavily impacted by antimicrobial resistance. The aim of this study was to investigate all cases of NDM-5 and OXA-181 carbapenemase-producing Escherichia coli (CPEc) in these two FOTs between 2015 and 2020, to better understand the regional spread of these last-line treatment resistant bacteria.
Methods: All E.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!