Duchenne muscular dystrophy respiratory profiles from real world registry data.

Introduction: Understanding real-world profiles from neuromuscular databases is helpful for optimizing clinical care and planning research studies. The Canadian Neuromuscular Disease Registry (CNDR) has respiratory data from a population of boys with Duchenne Muscular Dystrophy (DMD).

Objectives: To describe cross-sectional respiratory profiles from a national DMD real-world dataset.

Duchenne Muscular Dystrophy Fatigue Trajectories.

Introduction: Children with Duchenne muscular dystrophy (DMD) are at risk of experiencing fatigue that negatively impacts their health-related quality of life (HRQoL). This study aimed to assess the association between fatigue and HRQoL, by examining fatigue trajectories over 48 weeks, and assessing factors associated with these fatigue trajectories.

Methods: The study sample consisted of 173 DMD subjects enrolled in a 48-week-long phase 2 clinical trial (NCT00592553) for a novel therapeutic who were between the ages of 5 and 16 years.

The discovery of the DNA methylation episignature for Duchenne muscular dystrophy.

Duchenne Muscular Dystrophy (DMD) is an X-linked recessive neuromuscular disorder characterized by progressive muscle weakness due to loss of function mutations in the dystrophin gene. Variation in clinical presentation, the rate of disease progression, and treatment responsiveness have been observed amongst DMD patients, suggesting that factors beyond the loss of dystrophin may contribute to DMD pathophysiology. Epigenetic mechanisms are becoming recognized as important factors implicated in the etiology and progression of various diseases.

Amblyopia risk factors among pediatric patients in a hospital-based setting using photoscreening.

Purpose: The aim of our study was to determine the prevalence of amblyopia risk factors in children visiting the American University of Beirut Medical Center (AUBMC) using automated vision screening.

Methods: This was a hospital-based screening of 1102 children aged between 2 and 6 years. Vision screening was performed using PlusoptiX S12 over 2 years (2018-2020).

High-Dose Levetiracetam for Neonatal Seizures: A Retrospective Review.

Background: Neonatal seizures are frequently encountered in the neonatal intensive care unit and may be associated with serious long-term neurological sequelae. Response to treatment continues to be modest, and treatment guidelines remain unclear. The use of levetiracetam has been on the rise in the past several years due to its favorable safety profile in the face of limited data on its efficacy and optimal dosing regimens.