Cell transplantation-mediated dystrophin supplementation efficacy in Duchenne muscular dystrophy mouse motor function improvement demonstrated by enhanced skeletal muscle fatigue tolerance.

Background: Duchenne muscular dystrophy (DMD) is an incurable neuromuscular disease leading to progressive skeletal muscle weakness and fatigue. Cell transplantation in murine models has shown promise in supplementing the lack of the dystrophin protein in DMD muscles. However, the establishment of novel, long-term, relevant methods is needed to assess its efficiency on the DMD motor function.

Distribution of MRI-derived T2 values as a biomarker for in vivo rapid screening of phenotype severity in mdx mice.

Background: The pathology in Duchenne muscular dystrophy (DMD) is characterized by degenerating muscle fibers, inflammation, fibro-fatty infiltrate, and edema, and these pathological processes replace normal healthy muscle tissue. The mdx mouse model is one of the most commonly used preclinical models to study DMD. Mounting evidence has emerged illustrating that muscle disease progression varies considerably in mdx mice, with inter-animal differences as well as intra-muscular differences in pathology in individual mdx mice.

Disturbed Atrial Conduction in Patients with Duchenne Muscular Dystrophy.

Background: Duchenne muscular dystrophy (DMD)-related cardiomyopathy is associated with hemodynamic and conduction abnormalities and begins at an early age with subtle symptoms.

Methods: The study population included 55 patients with DMD and 54 healthy controls. We compared electrocardiogram (ECG), conventional echocardiography, and tissue Doppler imaging (TDI) assessments between patients with DMD and healthy controls.

The impact of genotype on age at loss of ambulation in individuals with Duchenne muscular dystrophy treated with corticosteroids: A single-center study of 555 patients.

Introduction/aims: Studies have demonstrated that certain genotypes in Duchenne muscular dystrophy (DMD) have milder or more severe phenotypes. These studies included individuals treated and not treated with corticosteroids and multiple sites with potentially varying standards of care. We aimed to assess genotype-phenotype correlations for age at loss of ambulation (LoA) in a large cohort of individuals with DMD treated with corticosteroids at one center.

Case Report: Acute myocarditis in a patient with Duchenne muscular dystrophy.

Background: Cardiovascular complications are the leading cause of death among individuals with Duchenne muscular dystrophy (DMD). However, due to the difficulty in evaluating individuals with inactive DMD, acute myocardial injury may be overlooked.

Case Presentation: An 11-year-old boy with DMD presented to the emergency department with a 5-day history of persistent nasal congestion, runny nose, and cough.

Frequent Unrecognized Vertebral Fractures Associated with Increased Body Fat Mass in Children and Adolescents with Duchenne Muscular Dystrophy.

Objective: Patients with Duchenne muscular dystrophy (DMD) have an increased risk of vertebral fractures (VFs). Ethnic variations may partly contribute to the fracture risk. This study aimed to demonstrate the VFs and body fat mass in Asian patients with DMD.

Wilkie's syndrome in a patient with Duchenne's muscular dystrophy: A Case Report.

Superior mesenteric artery syndrome, or Wilkie's syndrome, is one of the rarest gastrointestinal disorders known to medical science. It is characterized by the vascular clamp of the third portion of the duodenum, between the superior mesenteric artery and the aorta. It presents as an uncommon cause of upper intestinal obstruction.

Functional cardiac consequences of β-adrenergic stress-induced injury in a model of Duchenne muscular dystrophy.

Cardiomyopathy is the leading cause of death in Duchenne muscular dystrophy (DMD); however, in the mdx mouse model of DMD, the cardiac phenotype differs from that seen in DMD-associated cardiomyopathy. Although some have used pharmacologic stress to stimulate injury and enhance cardiac pathology in the mdx model, many methods lead to high mortality with variable cardiac outcomes, and do not recapitulate the structural and functional cardiac changes seen in human disease. Here, we describe a simple and effective method to enhance the cardiac phenotype model in mdx mice using advanced 2D and 4D high-frequency ultrasound to monitor cardiac dysfunction progression in vivo.

Evaluation of fatigue and fatigability in people with Duchenne muscular dystrophy using a dynamic arm support - a pilot study.

Background: Due to progressive muscle wasting and weakness in patients with Duchenne Muscular Dystrophy (DMD), physical fatigability increases, upper extremity function reduces, which negatively impacts quality of life. Assistive technology such as dynamic arm supports (DAS) may help reduce this fatigability. This study aims to assess whether the novel Yumen 'EXone' DAS can reduce upper extremity fatigue and fatigability in DMD patients and healthy controls (HC), both with and without the DAS.

Correction of exon 2, exon 2-9 and exons 8-9 duplications in DMD patient myogenic cells by a single CRISPR/Cas9 system.

Duchenne Muscular dystrophy (DMD), a yet-incurable X-linked recessive disorder that results in muscle wasting and loss of ambulation is due to mutations in the dystrophin gene. Exonic duplications of dystrophin gene are a common type of mutations found in DMD patients. In this study, we utilized a single guide RNA CRISPR strategy targeting intronic regions to delete the extra duplicated regions in patient myogenic cells carrying duplication of exon 2, exons 2-9, and exons 8-9 in the DMD gene.

Characterization of muscle growth and sarcomere branching in the striated musculature of .

Striated muscles are essential for locomotion and survival. Their function and structure are highly conserved across taxa. Muscles are highly plastic.

Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases.

Background: Duchenne Muscular Dystrophy (DMD) is an X-linked disorder caused by mutations in the DMD gene, with large deletions being the most common type of mutation. Inversions involving the DMD gene are a less frequent cause of the disorder, largely because they often evade detection by standard diagnostic methods such as multiplex ligation probe amplification (MLPA) and whole exome sequencing (WES).

Case Presentation: Our research identified two intrachromosomal inversions involving the dystrophin gene in two unrelated families through Long-read sequencing (LRS).

Relationship between growth and ambulation loss in Duchenne muscular dystrophy boys on steroids.

Background And Purpose: Treatment with glucocorticoids (GCs) is part of the standard of care in Duchenne muscular dystrophy, but excess weight gain and height stunting are common side-effects. It is still unclear how these growth-related side-effects affect motor function.

Methods: This retrospective cohort study utilized 2228 observations from 648 participants in the UK NorthStar database who had growth and ambulation data recorded between 2006 and 2020.

Author Correction: Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy.

[Image: see text]

The Vectorcardiogram Characteristic and Its Predictive Value for Reduced Left Ventricular Ejection Fraction of Children with Duchenne Muscular Dystrophy.

Background: The prognosis of Duchenne muscular dystrophy (DMD) is poor once it develops to the stage of cardiac impairment. Recent studies have demonstrated that electrocardiogram (ECG), which consists of general ECG and vectorcardiogram (VCG), retains an extremely powerful role in the assessment of patients with reduced left ventricular (LV) systolic dysfunction. However, data regarding VCG recordings in DMD and its prognostic value for reduced left ventricular ejection fraction (LVEF) of DMD have never been reported.