A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome.

Cholinergic receptor nicotinic epsilon (CHRNE) subunit mutations cause postsynaptic type of congenital myasthenic syndrome either as a primary acetylcholine-receptor deficiency or abnormal channel kinetics in the receptor. We report a novel homozygous variant (c.322C > T, p.Pro108Ser) in the epsilon subunit causing primary acetylcholine-receptor deficiency in two siblings. Two siblings presented with fatigable weakness. Both siblings had whole exome sequencing showing a homozygous variant (c.322C > T, p.Pro108Ser) of unknown significance in the epsilon subunit. Electromyography/nerve conduction study with repetitive nerve stimulation on one sibling showed a defect in neuromuscular junction transmission. Pseudoephedrine and fluoxetine for suspected slow-channel congenital myasthenic syndrome yielded no improvement. A trial of pyridostigmine led to clinical improvement. Given the clinical presentation, consanguinity, homozygous genetic variant, and response to pyridostigmine, we rationalize the homozygous variant (c.322C > T, p.Pro108Ser) in cholinergic receptor nicotinic epsilon subunit causes the primary acetylcholine-receptor deficiency congenital myasthenic syndrome.

Use of Complementary and Alternative Medicine in Children with Neuromuscular Disorders Followed at Penn State Health Pediatric Muscular Dystrophy Association Care Center Clinic.

The exact prevalence of complementary and alternative medicine (CAM) use is not known in pediatric patients with neuromuscular diseases followed by any of the 150 Muscular Dystrophy Association (MDA) Care Center Clinics nationwide. This study describes the prevalence and variety of CAM usage in this population, while also assessing the prevalence of caregiver disclosure of CAM use and caregiver perception of provider support for CAM. Fifty-two caregivers of pediatric patients seen at Penn State Health's Pediatric MDA Care Center Clinic completed our online survey. Overall, 19.2% of caregivers reported CAM use by their child. Less than half of caregivers reported discussing CAM use with their child's neurologist (41.5%); however, a majority of respondents reported interest in using CAM for their child in the future (52.8%). Understanding the prevalence of CAM usage and disclosure in pediatric MDA clinics may facilitate safer use of CAM in this community.

Distress tolerance among emergency department patients in acute pain: Associations with substance use treatment.

Managing acute pain in individuals with a history of substance use disorders (SUD) is complex. Distress tolerance (DT) (e.g., the ability to handle uncomfortable sensations) may serve as an ideal non-pharmacological intervention target in this population. Among 293 emergency department (ED) patients seeking treatment for pain (Mage  = 41; 42% Female; 43% Black), we examined rates of SUD treatment and DT, whether an objective DT task is feasible to conduct in the ED, and relationships between DT and SUD. Patients completed a self-report DT survey, an objective DT task, and brief surveys of pain, drug use, current or past SUD treatment, and depression/anxiety. Average DT was 18.50 (SD = 9.4) out of 50; patients with past or current SUD treatment (n = 43; 14.7%) reported lower DT than patients with no SUD treatment history (n = 250; 85.3%). Controlling for demographics, depression/anxiety, and pain severity, lower subjective DT (adjusted odds ratio [aOR] = 1.05) and objective DT (aOR = 1.02) was associated a current or past history or SUD treatment. Assessing subjective and objective DT in ED patients with acute pain is feasible; interventions aimed at boosting DT may improve outcomes among patients with acute pain and SUD.