Meyer Children's Hospital

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy

Abstract Objective The polygenic risk score (PRS) for individuals with genetic generalized epilepsy (GGE) quantifies the common risk variants in genes identified in genome‐wide association studies. We hypothesized that the phenotype of GGE patients differs based on their GGE PRS....

Efficacy and safety of fenfluramine in Dravet syndrome: The impact of patient clinical characteristics

Abstract Objective To assess the efficacy and safety of fenfluramine in patients with Dravet syndrome (DS) stratified by age, number of previously attempted antiseizure medications (ASMs), and SCN1A pathogenic variant status. Methods In this post hoc analysis, data from three ran...

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring. While a...

Cross-cultural adaptation and validation of the Localised Scleroderma Quality of Life Instrument (LoSQI): an international study

Juvenile localised scleroderma (jLS) is a rare disease which impacts negatively on health-related quality of life (HRQoL). We aimed to undertake the cross-cultural adaptation and validation of a novel disease-specific HRQoL measure, the Localised Scleroderma Quality of Life Instr...

Susceptibility haplotypes in non-cystic fibrosis newborns with elevated immunoreactive trypsinogen

Cystic fibrosis (CF) represents the most prevalent life-threatening autosomal recessive disorder in Europe, primarily affecting the respiratory tract, exocrine pancreatic function, and lipid metabolism. Immunoreactive trypsinogen (IRT) quantification constitutes the first-tier te...

Ultrasonography-Guided Long Peripheral Catheters: Real-World Outcomes in Hospitalized Children

OBJECTIVE: Despite being the most common vascular access devices in pediatric settings, short peripheral catheters (SPCs) frequently result in difficult insertion, limited dwell time, and multiple replacements. Ultrasonography-guided long peripheral catheters (LPCs) may improve c...