Performance fatigability in adults with spinal muscular atrophy treated long-term with nusinersen.

Introduction/aims: Persons with spinal muscular atrophy (pwSMA) report progressive muscle weakness but also reduced endurance when performing repetitive tasks in daily life, referred to as "performance fatigability" (PF). Data regarding the effects of the new disease-modifying drugs on PF are scarce. Thus, our main objective was to examine PF in adult ambulatory pwSMA treated long-term with nusinersen.

Internal Herniation of the Transverse Colon and Stricture of the Gastric Body: A Case Report.

Internal herniation is a protrusion of the bowel limited to the abdominal cavity. This pathology is rare and difficult to diagnose due to a wide array of symptoms that may manifest. Internal hernias have the potential to affect surrounding organs such as the stomach and adjacent bowel due to the compressive force of the protruding bowel.

Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach.

Background: Glutamatergic synapse dysfunction is believed to underlie the development of Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) in many individuals. However, identification of genetic markers that contribute to synaptic dysfunction in these individuals is notoriously difficult. Based on genomic analysis, structural modeling, and functional data, we recently established the involvement of the TRIO-RAC1 pathway in ASD and ID.

Risdiplam improves subjective swallowing quality in non-ambulatory adult patients with 5q-spinal muscular atrophy despite advanced motor impairment.

Background: 5q-associated spinal muscular atrophy (SMA) is characterized by the progressive loss of motor neurons with consecutive weakness and atrophy of the limb, respiratory, and bulbar muscles. While trunk and limb motor function improve or stabilize in adults with SMA under nusinersen and risdiplam treatment, the efficacy on bulbar function in this age group of patients remains uncertain. However, it is important to assess bulbar dysfunction, which frequently occurs in the disease course and is associated with increased morbidity and mortality.

Investigating Sex Differences in Rates and Correlates of Food Addiction Status in Women and Men with PTSD.

Background: Food addiction (FA) is a dysregulated eating pattern characterized by difficulties in controlling the intake of certain foods. There is an overlap in physical and mental health correlates of FA and post-traumatic stress disorder (PTSD). The purpose of this study was to examine sex differences in the rates of positive FA status in individuals with threshold/subthreshold PTSD, and to examine sex differences in the physical and mental health correlates of FA.