PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism.

Protein-activated kinases mediate spine morphogenesis and synaptic plasticity. PAK3 is part of the p21-activated kinases (PAKs) family of Ras-signaling serine/threonine kinases. Pathogenic variants in the X-linked gene PAK3 have been described in patients with neurodevelopmental syndromes.

Making the Case for an International Childhood Cancer Data Partnership.

Childhood cancers are a heterogeneous group of rare diseases, accounting for less than 2% of all cancers diagnosed worldwide. Most countries, therefore, do not have enough cases to provide robust information on epidemiology, treatment, and late effects, especially for rarer types of cancer. Thus, only through a concerted effort to share data internationally will we be able to answer research questions that could not otherwise be answered.

Unveiling the rural dichotomy: the dual impact of rurality on youth mental health.

Introduction: The geographic, cultural, social and economic milieu that impacts mental health in rural communities globally has been well documented. However, few studies have addressed how rural ecosystems impact specifically upon the mental health and wellbeing of young people. Furthermore, the limited explorations of factors contributing to poorer mental health outcomes in rural youth have primarily included adult voices.

Identifying Quality Improvement Targets After Pediatric Gastrostomy Tube Insertion: A NSQIP-Pediatric Pilot Study.

Background: Gastrostomy tube (GT) placement is one of the most common procedures performed by pediatric surgeons; however, no current national clinical data registry exists to assess GT-specific care processes and morbidity. The American College of Surgeons (ACS) National Surgical Quality Improvement Program-Pediatric (NSQIPPed) GT Pilot was created to provide participants with these data. This study aims to analyze these data to identify variability in perioperative practices and post-operative morbidity in pediatric GT operations and to provide targets for future quality improvement (QI) interventions.

The early-onset Alzheimer's disease MRI signature: a replication and extension analysis in early-stage AD.

Early-onset Alzheimer's disease (EOAD) is less investigated than the more common late-onset Alzheimer's disease (LOAD) despite its more aggressive course. A cortical signature of EOAD was recently proposed and may facilitate EOAD investigation. Here, we aimed to validate this proposed MRI biomarker of EOAD neurodegeneration in an Appalachian clinical cohort.