LONP1 Variants Are Associated With Clinically Diverse Phenotypes
Clin Genet. 2025 Sep 10. doi: 10.1111/cge.70057. Online ahead of print. ABSTRACT LONP1 encodes a mitochondrial protease essential for protein quality control and metabolism. Variants …
paediatrics
Implementing a Resource-Light and Low-Code Large Language Model System for Information Extraction from Mammography Reports: A Pilot Study
J Imaging Inform Med. 2025 Sep 10. doi: 10.1007/s10278-025-01659-4. Online ahead of print. ABSTRACT Large language models (LLMs) have been successfully used for data extraction …
Parental Knowledge Gaps Negatively Impact Childhood Asthma Control in Tunisia
Indian J Pediatr. 2025 Sep 11. doi: 10.1007/s12098-025-05756-8. Online ahead of print. NO ABSTRACT PMID:40931266 | DOI:10.1007/s12098-025-05756-8
Interdisciplinary management of paediatric chronic and complex pain: the experience of a specialised outpatient clinic in Italy
Eur J Pediatr. 2025 Sep 11;184(10):608. doi: 10.1007/s00431-025-06451-8. ABSTRACT PURPOSE: This study aimed to describe the structure, patient characteristics, and preliminary clinical outcomes of a …
Advantages of TiRobot-assisted surgery in the treatment of osteoporotic thoracolumbar compression fractures: a meta-analysis based on multiple clinical indicators
J Robot Surg. 2025 Sep 10;19(1):589. doi: 10.1007/s11701-025-02776-6. ABSTRACT This study aims to systematically assess the therapeutic effectiveness of TiRobot-assisted percutaneous kyphoplasty or vertebroplasty in …
Patient Characteristics Associated with 30-Day Readmission to a Pediatric Cardiac Center
Pediatr Cardiol. 2025 Sep 10. doi: 10.1007/s00246-025-04015-z. Online ahead of print. ABSTRACT Patients with acquired and congenital heart disease (CHD) are at higher risk of …
CRISPR/Cas9-mediated editing of COQ4 in induced pluripotent stem cells: A model for investigating COQ4-associated human coenzyme Q10 deficiency
Stem Cell Res. 2025 Sep 1;88:103825. doi: 10.1016/j.scr.2025.103825. Online ahead of print. ABSTRACT Pathogenic variants in the gene COQ4 cause primary coenzyme Q10 deficiency, which …
Deep Learning-Based Pattern Recognition for Detecting Penile Abnormalities: Protocol for Developing a Mobile App for Circumcision Eligibility
JMIR Res Protoc. 2025 Sep 10;14:e65811. doi: 10.2196/65811. ABSTRACT BACKGROUND: Circumcision is a widely practiced procedure with cultural and medical significance. However, certain penile abnormalities-such …
Developing an Interprofessional Pediatric Rehabilitation Model of Care in Northern Cree First Nation Communities: Protocol for a Needs Assessment and Codeveloped Intervention With a Qualitative and Participatory Action Approach
JMIR Res Protoc. 2025 Sep 10;14:e69438. doi: 10.2196/69438. ABSTRACT BACKGROUND: In Canada, the Indigenous population is the youngest and fastest growing, yet ongoing health disparities …
Implementing Social Media Strategies in Community-Partnered HIV Research: Practical Considerations From 3 Ongoing Studies
JMIR Public Health Surveill. 2025 Sep 10;11:e73318. doi: 10.2196/73318. ABSTRACT BACKGROUND: In recent years, social media has emerged as a pivotal tool in implementation science …