Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Purpose: We sought to delineate a multisystem disorder caused by recessive cysteine-rich with epidermal growth factor-like domains 1 (CRELD1) gene variants.

Methods: The impact of CRELD1 variants was characterized through an international collaboration utilizing next-generation DNA sequencing, gene knockdown, and protein overexpression in Xenopus tropicalis, and in vitro analysis of patient immune cells.

Results: Biallelic variants in CRELD1 were found in 18 participants from 14 families.

The Impact of COVID-19 on Families With Pediatric Muscular Dystrophy Patients.

The coronavirus disease 2019 (COVID-19) pandemic resulted in unprecedented changes in daily activities and healthcare services. In the United States, stay-at-home orders and social distancing measures were put, and school closures impacted many students. The psychological impact of the COVID-19 pandemic has been shown to have wide-ranging and long-term effects.

Comparison of antibody response to two different mRNA Covid-19 vaccines in patients on hemodialysis.

Introduction: In hemodialysis patients, coronavirus disease 2019 is associated with high morbidity and mortality. Aim of the study was to evaluate the antibody level against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in patients treated with two different mRNA-based vaccines, in a multicenter survey.

Patients And Methods: Since April 2020, in the 5 participating Centers, periodic screening of all patients with PCR testing has been performed every 2 weeks.

Collective Statement Regarding Patient Access to Approved Therapies from the Center Directors of Parent Project Muscular Dystrophy's Certified Duchenne Care Centers.

The dystrophinopathies (Duchenne [DMD] and Becker muscular dystrophy) are progressive diseases that until recently had no specific treatments. New FDA pathways to drug approval in rare diseases have resulted in a dramatic increase in the number of treatment trials for DMD and recently, two approved drugs. Health insurance policies for DMD products have been constructed with limited input from neuromuscular specialists directly involved in patient care and without patient input.

Mitochondrial Membrane Protein-Associated Neurodegeneration Mimicking Juvenile Amyotrophic Lateral Sclerosis.

Background: Mitochondrial membrane protein associated neurodegeneration (MPAN) is the third most common subtype of neurodegeneration with brain iron accumulation (NBIA) and caused by mutations of the orphan gene C19ORF12 encoding a transmembrane mitochondrial protein. Like other NBIA disorders, the hallmark of neuropathology is iron deposition in the basal ganglia, but the clinical presentation is highly variable.

Methods: We present the relevant clinical history, neurological examination, electrophysiological and neuroimaging tests of a currently ten-year-old girl.

Impact of Co-management at the Primary-Subspecialty Care Interface on Follow-up and Referral Patterns for Patients With Concussion.

Background: Co-management is a collaborative care model that consists of structured tools to define and document care delivered by 2 or more providers. We evaluated the impact of implementing co-management at the interface between pediatric primary care providers (PCPs) and subspecialists.

Methods: Participating PCPs (n = 9) were trained on management of concussion using the co-management tools.

Management of juvenile myasthenia gravis.

Juvenile myasthenia gravis is an uncommon autoimmune disorder. Its management is not standardized. Juvenile myasthenia gravis is pathophysiologically similar to myasthenia gravis in adults.