Genomic Landscape of Chromosome X Factor VIII: From Hemophilia A in Males to Risk Variants in Females.

Background: Variants within factor VIII (F8) are associated with sex-linked hemophilia A and thrombosis, with gene therapy approaches being available for pathogenic variants. Many variants within F8 remain variants of uncertain significance (VUS) or are under-explored as to their connections to phenotypic outcomes.

Methods: We assessed data on F8 expression while screening the UniProt, ClinVar, Geno2MP, and gnomAD databases for F8 missense variants; these collectively represent the sequencing of more than a million individuals.

Risk factors for abusive head trauma in the pediatric population.

Objective: Abusive head trauma (AHT) is the leading cause of death from physical child abuse in children younger than 5 years of age in the United States. The mortality rate among patients with AHT is 25%, and the recurrence rate of child abuse rises to 35% when there is a lack of intervention. Thus, identifying child abuse is crucial yet especially challenging for infants and toddlers as they are preverbal.

Disney to Pixar Transition Causing Epilepsy: A Case Report of Reflex Epilepsy.

This case report describes a rare instance of reflex seizures in a 4-year-old boy with a complex medical history, including total anomalous pulmonary venous connection and developmental disabilities. The patient experienced seizures triggered exclusively by a specific visual stimulus: the transition scene from the Disney castle to the Pixar lamp in Disney-Pixar movies. Video electroencephalography (EEG) revealed biparasagittal rhythmic delta waves and diffuse slowing, suggesting parietal involvement and complex cortical processing.

SARS-CoV-2 Genotyping Highlights the Challenges in Spike Protein Drift Independent of Other Essential Proteins.

As of 2024, SARS-CoV-2 continues to propagate and drift as an endemic virus, impacting healthcare for years. The largest sequencing initiative for any species was initiated to combat the virus, tracking changes over time at a full virus base-pair resolution. The SARS-CoV-2 sequencing represents a unique opportunity to understand selective pressures and viral evolution but requires cross-disciplinary approaches from epidemiology to functional protein biology.