Paediatrics
Paediatrics

A de Novo 2q23.1-2q23.3 duplication in a neonate with anemia, thrombocytopenia, and hypospadias: clinical and genomic characterization

Mol Cytogenet. 2025 Dec 4. doi: 10.1186/s13039-025-00741-4. Online ahead of print. ABSTRACT BACKGROUND: Copy number variations (CNVs) of uncertain significance (VUS) are increasingly identified through …

The clinical and cost effectiveness of a conservative treatment pathway compared to appendicectomy in children with uncomplicated acute appendicitis: study protocol for a randomised controlled multi-centre open-label parallel-group non-inferiority trial (CONTRACT 2 trial) in the United Kingdom (UK)

Trials. 2025 Dec 4. doi: 10.1186/s13063-025-09282-y. Online ahead of print. ABSTRACT BACKGROUND: Currently, the most frequently used treatment for acute appendicitis in children in the …

Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group

Orphanet J Rare Dis. 2025 Dec 5. doi: 10.1186/s13023-025-04158-5. Online ahead of print. ABSTRACT BACKGROUND: Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive ultrarare …

Comparative effectiveness of advanced radiotherapy techniques for brain cancers: A systematic review with an emphasis on dosimetric variability

Phys Med. 2025 Dec 3;140:105682. doi: 10.1016/j.ejmp.2025.105682. Online ahead of print. ABSTRACT BACKGROUND: Central nervous system (CNS) cancers pose a significant burden on global health. …

Osteogenic biodegradable plates for cranioplasty in 6 patients across different age groups: clinical failure of promising concept? Patient series

J Neurosurg Case Lessons. 2025 Nov 24;10(21):CASE25570. doi: 10.3171/CASE25570. Print 2025 Nov 24. ABSTRACT BACKGROUND: Reconstruction of cranial bone defects after craniotomy remains a contemporary …