paediatrics
paediatrics

Genome-wide epigenetic signatures facilitated the variant classification of PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders

Genet Med. 2024 May 17:101167. doi: 10.1016/j.gim.2024.101167. Online ahead of print. ABSTRACT PURPOSE: Rare genetic variants in the PURA gene cause PURA-related neurodevelopmental disorder (PURA-NDD), …

In Reply: Letter to the Editor Regarding Health-related Quality of Life in Idiopathic Toe Walkers: A Multicenter Prospective Cross-sectional Study

J Pediatr Orthop. 2024 May 20. doi: 10.1097/BPO.0000000000002717. Online ahead of print. NO ABSTRACT PMID:38770679 | DOI:10.1097/BPO.0000000000002717

Elbow Flexor Release Combined With Selective Neurectomy of Musculocutaneous Nerve for Spastic Elbow Flexion Deformity in Children and Adolescents

J Pediatr Orthop. 2024 May 21. doi: 10.1097/BPO.0000000000002729. Online ahead of print. ABSTRACT BACKGROUND: Spasticity of the elbow flexors causes a dynamic and/or static elbow …

Serum vitamin D levels in children with vernal keratoconjunctivitis – A study from a tertiary care pediatric hospital of North India

Indian J Ophthalmol. 2024 May 20. doi: 10.4103/IJO.IJO_773_23. Online ahead of print. ABSTRACT BACKGROUND: To study the levels of vitamin D serum levels in children …

Changes in health-related quality of life during transition to adult healthcare: an international prospective cohort study

Arch Dis Child. 2024 May 20:archdischild-2024-327017. doi: 10.1136/archdischild-2024-327017. Online ahead of print. ABSTRACT OBJECTIVE: To study changes in health-related quality of life (HRQoL) in adolescents …