paediatrics
paediatrics

Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing

Hum Genomics. 2025 Jan 6;19(1):1. doi: 10.1186/s40246-024-00709-2. ABSTRACT BACKGROUND: Congenital anomalies (CAs) encompass a wide spectrum of structural and functional abnormalities during fetal development, commonly …

Perioperative infections as a prognostic risk factor in hepatocellular carcinoma and cholangiocellular carcinoma: a comparative analysis

World J Surg Oncol. 2025 Jan 7;23(1):9. doi: 10.1186/s12957-024-03651-8. ABSTRACT BACKGROUND: Hepatocellular Carcinoma (HCC) and cholangiocellular adenocarcinoma (CCA) are the most common primary liver tumors …

To intubate or to resuscitate: the effect of simulation-based training on advanced airway management during simulated paediatric resuscitations

Adv Simul (Lond). 2025 Jan 6;10(1):1. doi: 10.1186/s41077-024-00326-y. ABSTRACT BACKGROUND: We aimed to measure the effect of a 2-day structured paediatric simulation-based training (SBT) on …

Prevalence and Antimicrobial Resistance Trends among Lower Respiratory Tract Pathogens in Crete, Greece, 2017-2022

Infect Chemother. 2024 Dec;56(4):492-501. doi: 10.3947/ic.2024.0060. ABSTRACT BACKGROUND: Lower respiratory tract infections (LRTIs) are the most common infections in humans accounting for significant morbidity and …

Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol

Orphanet J Rare Dis. 2025 Jan 6;20(1):2. doi: 10.1186/s13023-024-03495-1. ABSTRACT BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting multiple organ systems, …

Developing an Evidence- and Theory-Informed Mother-Daughter mHealth Intervention Prototype Targeting Physical Activity in Preteen Girls of Low Socioeconomic Position: Multiphase Co-Design Study

JMIR Pediatr Parent. 2025 Jan 6;8:e62795. doi: 10.2196/62795. ABSTRACT BACKGROUND: Preteen girls of lower socioeconomic position are at increased risk of physical inactivity. Parental support, …

Examining the Emotional and Physical Health Impact in Users of Open-Source Automated Insulin Delivery and Sources of Support: Qualitative Analysis of Patient Narratives

J Med Internet Res. 2025 Jan 6;27:e48406. doi: 10.2196/48406. ABSTRACT BACKGROUND: Although commercially developed automated insulin delivery (AID) systems have recently been approved and become …