Month: <span>August 2024</span>
Month: August 2024

Technical note: durable resolution of hydrocephalus after ultrasound-guided percutaneous fenestration of giant suprasellar arachnoid cyst in a neonate

Childs Nerv Syst. 2024 Aug 14. doi: 10.1007/s00381-024-06560-z. Online ahead of print. ABSTRACT Arachnoid cysts are relatively common, but rarely require intervention. While most arachnoid …

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules

Genet Med. 2024 Aug 10:101241. doi: 10.1016/j.gim.2024.101241. Online ahead of print. ABSTRACT PURPOSE: Pathogenic LZTR1 variants cause schwannomatosis and dominant/recessive Noonan syndrome (NS). We aim …

Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for adult screening

Genet Med. 2024 Aug 10:101240. doi: 10.1016/j.gim.2024.101240. Online ahead of print. ABSTRACT INTRODUCTION: As population-based screening programs to identify genetic conditions in adults using genomic …

The Coronavirus Disease 2019 Pandemic and Time to Diagnosis for Childhood Pulmonary Diseases: Outcomes of a Tertiary Care Center

Turk Arch Pediatr. 2024 Jul 1;59(4):370-374. doi: 10.5152/TurkArchPediatr.2024.23158. ABSTRACT Coronavirus disease 2019 pandemic caused many changes in the social behaviors of individuals and the provision …

Fenfluramine treatment in pediatric patients with Dravet syndrome reduces seizure burden and overall healthcare costs: A retrospective and observational real-world study

Epilepsia Open. 2024 Aug 14. doi: 10.1002/epi4.13029. Online ahead of print. ABSTRACT OBJECTIVES: Dravet syndrome is a developmental and epileptic encephalopathy characterized by early onset …