Sex differences in MAGEL2 gene promoter methylation in high functioning autism - trends from a pilot study using nanopore Cas9 targeted long read sequencing.

Background: MAGEL2 is an autism susceptibility gene whose deficiency has been associated with autism-related behaviors in animal models and in syndromic human autism spectrum disorders (ASDs) such as Schaaf-Yang syndrome, but has not been studied in the broader autism spectrum. Given the capabilities of long-read sequencing technologies, this pilot study used a targeted nanopore sequencing approach to simultaneously examine MAGEL2 DNA sequence and methylation in adults with high-functioning autism (HFA) compared to neurotypical controls (NC).

Methods: Using DNA extracted from peripheral blood, Cas9-targeted nanopore DNA sequencing was used to analyze MAGEL2, including its entire regulatory construct (chr15:23639316-23651466), for sequence variation and 5-methyl-cytosine (5mC) modification in a cohort of adults with HFA compared to sex- and age-matched NC.

Comprehensive assessment and progression of health status during neurorehabilitation in survivors of critical illness: a prospective cohort study.

Background: Critical illness survivors frequently suffer from long-term impairments, often described as post-intensive care syndrome (PICS). PICS encompasses physical, cognitive, and mental impairments. Additionally, the term intensive care unit (ICU)-acquired weakness (ICUAW) was coined for muscle weakness after critical illness.

Clinical phenotype and management of sound-induced pain: Insights from adults with pain hyperacusis.

Pain hyperacusis, also known as noxacusis, causes physical pain in response to sounds that do not bother most people. How sound causes excruciating pain that can last for weeks or months is not well understood, resulting in a lack of effective treatments. To gain insight into the underlying mechanisms of the condition, 32 adults attended a virtual focus group to describe their sound-induced pain.

Stimulation of the withdrawal reflex in gait training after stroke: A systematic review and meta-analysis.

Background: After a stroke many people experience hemiparesis, resulting in walking difficulties which affects independence, mobility, and participation in activities of daily living. Activating the nociceptive withdrawal reflex (NWR) during gait training aims to support the initiation and facilitation of the swing phase of the paretic leg. The aim of this review is to investigate the orthotic and therapeutic effects of a NWR stimulation intervention to improve gait in patients after a stroke.