Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.

Collagen type VI regulates TGFβ bioavailability in skeletal muscle.

Collagen VI-related disorders (-RDs) are a group of rare muscular dystrophies caused by pathogenic variants in collagen VI genes (, and ). Collagen type VI is a heterotrimeric, microfibrillar component of the muscle extracellular matrix (ECM), predominantly secreted by resident fibroadipogenic precursor cells in skeletal muscle. The absence or mislocalizatoion of collagen VI in the ECM underlies the non-cell autonomous dysfunction and dystrophic changes in skeletal muscle with an as of yet elusive direct mechanistic link between the ECM and myofiber dysfunction.

Survey of Resources in Behavioral Sleep Medicine Across the Department of Defense, Defense Health Agency.

Introduction: Insomnia affects approximately 40% of active duty service members and adversely affects health, readiness, and safety. The VA/DoD Clinical Practice Guideline for the management of insomnia recommends cognitive-behavioral treatment of insomnia (CBTI) or its abbreviated version (brief behavioral treatment of insomnia [BBTI]) as the first-line insomnia treatment. The goal of this study was to assess CBTI/BBTI resources at MTFs, perceived facilitators and barriers for CBTI/BBTI, and gaps in these treatments across the Defense Health Agency.

Digital CBTI hubs as a treatment augmentation strategy in military clinics: study protocol for a pragmatic randomized clinical trial.

Background: Chronic insomnia is the most prevalent sleep disorder among military service members, and it compromises readiness, performance, and physical and mental health. Cognitive behavioral treatment for insomnia (CBTI) is the standard of care for the treatment of insomnia recommended by the VA/DoD Clinical Practice Guideline, the American Academy of Sleep Medicine, and the American College of Physicians. CBTI is highly effective but has limited scalability.

The use of telemedicine for the diagnosis and treatment of sleep disorders: an American Academy of Sleep Medicine update.

The COVID-19 pandemic led to widespread use of telemedicine and highlighted its importance in improving access to sleep care and advocating for sleep health. This update incorporates the lessons learned from such widespread utilization of telehealth to build on the American Academy of Sleep Medicine's 2015 position paper on the use of telemedicine for diagnosing and treating sleep disorders. Important key factors in this update include an emphasis on quality and value, privacy and safety, health advocacy through sleep telemedicine, and future directions.