Safety and efficacy of viltolarsen treatment in patients with Duchenne muscular dystrophy: A retrospective study with 3-year follow-up.

Background: Duchenne muscular dystrophy (DMD) is a hereditary neuromuscular disorder characterized by severe, progressive muscle wasting. Viltolarsen, a formulation consisting of exon 53-skipping antisense oligonucleotides of the dystrophin gene, has been indicated for some patients with DMD. However, reports describing the efficacy and safety of viltolarsen treatment in patients with DMD, particularly those comparing patients receiving viltolarsen with age- and time-period-matched controls, are limited.

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common.

Background: Targeted next generation sequence analyses in a cohort of 961 previously described patients with clinically suspected Duchene muscular dystrophy (DMD) revealed that 145/961 (15%) had variants in genes associated with other muscular dystrophies (OMDs).

Methods: NGS was carried out in DMD negative patients after deletion/duplication analysis followed by WES for No variant cases.

Results: The majority of patients with OMDs had autosomal recessive diseases that included Limb-Girdle Muscular Dystrophies (LGMDs), Bethlem, Ullrich congenital Myopathies and Emery-Driefuss muscular dystrophy.

Protective effect of maltol on pathological response of cardiomyocyte in dystrophic mice.

Heart diseases are a significant contributor to global morbidity and mortality, and despite their diverse and complex mechanisms, treatment options remain limited. Maltol, a natural compound with antioxidant and anti-inflammatory activities, exhibits potential for addressing this need. This study evaluates the cardioprotective effects of maltol in isoproterenol (ISO)-induced cardiac stress models and Duchenne muscular dystrophy (DMD).

First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser).

We present the first documented case of PURA syndrome in Colombia. This rare neurological disease results from mutations in the PURA gene located on chromosome 5, leading to haploinsufficiency of the PUR-α protein. This protein is essential for early brain development and neuronal function.

Single cell and TCR analysis of immune cells from AAV gene therapy-dosed Duchenne muscular dystrophy patients.

Clinical trials for Duchenne muscular dystrophy (DMD) are assessing the therapeutic efficacy of systemically delivered adeno-associated virus (AAV) carrying a modified transgene. High vector doses (>1E14 vg/kg) are needed to globally transduce skeletal muscles; however, such doses trigger immune-related adverse events. Mitigating these immune responses is crucial for widespread application of AAV-based therapies.

Identification of novel transcription factors regulated by H3K27 acetylation in myogenic differentiation of porcine skeletal muscle satellite cells.

H3K27 acetylation (H3K27ac) is crucial in muscle development as it regulates gene expression. Dysregulation of H3K27ac level has been linked to muscle-related diseases such as Duchenne muscular dystrophy, yet the mechanisms through which H3K27ac influences myogenic differentiation are not fully understood. Here, we utilized the SGC-CBP30 drug, a CBP/p300 bromodomain inhibitor, to reduce H3K27ac level and investigated its effect on myogenic differentiation of porcine skeletal muscle satellite cells.

Hypertrophic cardiomyopathy in Duchenne muscular dystrophy: a case series.

Duchenne muscular dystrophy is characterised by fibrofatty replacement of muscle, resulting in dilated cardiomyopathy. Hypertrophic cardiomyopathy affects 1:200-1:500 people and is characterised by asymmetric ventricular septal hypertrophy. To date, there have been two separately reported cases describing the combined pathology of these disorders.

Can Sniff Nasal Inspiratory Pressure be a guide in detecting of sleep-disordered breathing in children with Duchenne Muscular Dystrophy?

Purpose: Duchenne muscular dystrophy (DMD) is a severe, progressive condition characterized by muscle degeneration and weakness, significantly affecting respiratory function. This study aimed to evaluate the presence of sleep-disordered breathing (SDB) in children with DMD and investigate the relationships between sleep and respiratory function using spirometry, sniff nasal inspiratory pressure (SNIP), and polysomnography (PSG) along with capnography.

Research Question: Can low SNIP be a guide for detecting respiratory muscle involvement early and determining the right time to perform early PSG and capnography in DMD?

Study Design: Prospective, observational, cross-sectional study.

[EPIDEMIOLGY OF DUCHENNE MUSCULAR DYSTROPHY IN THE RUSSIAN FEDERATION].

Knowledge of the epidemiology of Duchenne muscular dystrophy is advisable for planning measures to improve the diagnosis and treatment of this disease. Purpose: to study the epidemic situation of Duchenne muscular dystrophy, as well as the average age of its diagnosis in the Russian Federation. The problem of accuracy of statistical estimates is due to heterogeneous diagnostic criteria.

Macrophages producing chondroitin sulfate proteoglycan-4 induce neuro-cardiac junction impairment in Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is caused by the absence of the full form of the dystrophin protein, which is essential for maintaining the structural integrity of muscle cells, including those in the heart and respiratory system. Despite progress in understanding the molecular mechanisms associated with DMD, myocardial insufficiency persists as the primary cause of mortality, and existing therapeutic strategies remain limited. This study investigates the hypothesis that a dysregulation of the biological communication between infiltrating macrophages (MPs) and neurocardiac junctions exists in dystrophic cardiac tissue.

Genotype and corticosteroid treatment are distinctively associated with gray matter characteristics in patients with Duchenne muscular dystrophy.

This study investigated if structural variation in specific gray matter areas is associated with corticosteroid treatment or genotype, and if cerebral morphological variations are related to neuropsychological and behavioral outcomes. The CAT12 toolbox in SPM was used for MRI segmentations, assessing subcortical structures, cortical thickness, gyrification, and sulci depths for DMD patients (n = 40; 9-18 years) and age-matched controls (n = 40). Comparisons were made between DMD vs.

Angiopoietin 1 Attenuates Dysregulated Angiogenesis in the Gastrocnemius of DMD Mice.

Duchenne muscular dystrophy (DMD) is a degenerative neuromuscular disease caused by a lack of functional dystrophin. Ang 1 paracrine signalling maintains the endothelial barrier of blood vessels, preventing plasma leakage. Chronic inflammation, a consequence of DMD, causes endothelial barrier dysfunction in skeletal muscle.

A Review of Muscular Dystrophies.

Muscular dystrophy encompasses a group of genetic conditions with progressive muscle damage and weakness. Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders that affect the production of the protein dystrophin. Emery-Dreifuss muscular dystrophy (EDMD) is typically an X-linked-recessive disorder involving the gene that codes for emerin.

Unexpected Findings of Duchenne Muscular Dystrophy in Prenatal Screening of Chromosome Abnormality Based on Cell-Free Fetal DNA.

Objective:  This study aims to assess the feasibility of detecting and diagnosing Duchenne muscular dystrophy (DMD) during prenatal screening for chromosome abnormalities using cell-free fetal DNA extracted from peripheral blood samples of pregnant women.

Study Design:  Two pregnant women identified as high risk through noninvasive prenatal testing (NIPT) underwent amniocentesis to obtain fetal cells. Subsequent fetal chromosomal karyotyping was conducted, and genomic DNA from fetal cells was extracted for copy number variation sequencing (CNV-Seq) analysis, complemented by multiplex ligation-dependent probe amplification (MLPA) to detect deletions or duplications within the DMD gene.

Yearly motor function changes in patients with Duchenne muscular dystrophy, including a COVID-19 behavioral restriction period.

[Purpose] This study aimed to assess the motor function status of ambulatory patients with Duchenne muscular dystrophy in 2020, which included a 3-month period of behavioral restriction due to the coronavirus disease of 2019 (COVID-19) pandemic, in comparison to the previous 2 years. [Participants and Methods] A retrospective analysis was conducted on 12 patients (children with mean age: 9.58 ± 3.

Complex glycerol kinase deficiency: A case report.

Glycerol kinase deficiency is a rare X-linked genetic disorder, which may be associated with adrenal hypoplasia congenita and Duchenne muscular dystrophy. Here we describe a complex pediatric case of adrenal insufficiency with persistent hyponatremia and hyperkalemia despite an adequate management with corticosteroids, hypertriglyceridemia since birth, and chronic malnutrition in nutritional recovery. No cases have been reported in the Argentine literature, which increases the relevance of this case in pediatric clinical practice due to its unusual presentation.

Effect of Electroacupuncture on Disease Progression in Duchenne Muscular Dystrophy: A Case Report.

Background: Duchenne Muscular Dystrophy (DMD) is an X-linked chromosomal recessive disorder, characterized by the progressive loss of muscle function and mass. Male individuals affected by this condition often live into their late teens or early twenties and are confined to wheelchairs. Since there is currently no treatment for DMD, complementary and alternative medicines have become more widely used to help patients manage their condition and enhance their quality of life.