Impact of genetic test interpretation on a missense variant in Cohen syndrome.

Introduction: Cohen syndrome (CS) is an early-onset pediatric neurodevelopmental disorder characterized by postnatal microcephaly and intellectual disability. An accurate diagnosis for individuals with CS is crucial, particularly for their caretakers and future prospects. CS is predominantly caused by rare homozygous or compound heterozygous pathogenic variants in the vacuolar protein sorting-associated 13B () gene, which disrupt protein translation and lead to a loss of function (LoF) of the encoded VPS13B protein.

Real-Time Neurophysiological and Subjective Indices of Cognitive Engagement in High-Speed Flight.

Introduction: Managing cognitive demand is critical for aviation safety. Yet, accurately assessing pilot workload during complex flight maneuvers remains challenging. This study evaluated an integrated methodology combining real-time cognitive engagement indicators to provide a comprehensive assessment and assess the reliability of physiological and subjective measures for monitoring operator state.

Permanent cilia loss during cerebellar granule cell neurogenesis involves withdrawal of cilia maintenance and centriole capping.

Brain neurons utilize the primary cilium as a privileged compartment to detect and respond to extracellular ligands such as Sonic hedgehog (SHH). However, cilia in cerebellar granule cell (GC) neurons disassemble during differentiation through ultrastructurally unique intermediates, a process we refer to as cilia deconstruction. In addition, mature neurons do not reciliate despite having docked centrioles.

Radiographic and Patient-Reported Outcomes for First Tarsometatarsal Arthrodesis Using an Intramedullary Nail for Hallux Valgus Deformity A Consecutive Case Series.

Background: First tarsometatarsal (TMT) arthrodesis is one of the most common procedures performed each year for the correction of hallux valgus deformity, and nonunion rates for first TMT arthrodesis are commonly reported to be between 4% and 15%. The purpose of this study was to evaluate the effectiveness of an intramedullary nail system in patients requiring first TMT arthrodesis.

Methods: An ambispective, multisurgeon, consecutive case series was conducted, in which retrospective and prospective collection of patient-reported outcome measure (PROM) and radiologic data were conducted.