Background And Purpose: Duchenne muscular dystrophy (DMD) is the most frequent skeletal muscle myopathy. Nearly all patients develop cardiomyopathy in their second decade of life. The purpose of this study was to evaluate the frequency, cause, and outcome of stroke in a German cohort of patients with DMD.
Methods: Retrospective analysis of medical records of 54 DMD patients, who lived in a regional facility for handicapped people (Wichernhaus Altdorf, Germany) between 1963 and 2013.
Results: Fifty-four DMD patients were followed up for 7.4 years on average. Mean age at admission and discharge from the long-term care facility or death were 11.4 and 18.8 years, respectively. Covering a total observation period of 400 patient-years, we identified 4 DMD patients with juvenile arterial ischemic strokes. Off-label systemic thrombolysis in 2 patients resulted in a nearly complete regression of stroke-related symptoms, but 1 patient died of septic pneumonia and cardiac failure 24 days after thrombolysis therapy. In the other 2 patients, who had their ischemic strokes in 1994 and 1998, severe infarction-related symptoms persisted, and 1 patient died 13 days later. DMD-associated cardiomyopathy without evidence of atrial fibrillation was the only risk factor for ischemic stroke in all patients.
Conclusions: This study indicates an increased risk for ischemic strokes in DMD patients. Regular cardiological assessment of all DMD patients is mandatory to evaluate the individual risk profile for cardioembolic events and to adapt therapeutic strategies.
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http://dx.doi.org/10.1161/STROKEAHA.116.013678 | DOI Listing |
BMC Public Health
January 2025
Scientific Direction, IRCSS INRCA, Ancona, Italy.
Background: eHealth Literacy (eHL) is a set of competencies and skills encompassing the knowledge, comfort and perceived ability to identify, evaluate and apply electronic health information to health problems. Given its role in the appropriate use of health technologies, ensuring equitable access to health information and improving patient outcomes, this study aims to systematically retrieve, qualitatively and quantitative pool and critically appraise available experimental evidence on the effectiveness of eHL interventions across different population groups.
Methods: Following the PRISMA guidelines, we conducted a systematic review in PubMed/Medline, Scopus, Web of Science, Embase, Cochrane Library and ClinicalTrials.
Drug Saf
January 2025
Department of Public Health Pharmacy and Management, Sefako Makgatho Health Sciences University, Pretoria, South Africa.
Introduction: The COVID-19 pandemic accelerated new vaccine development. Limited safety data necessitated robust global safety surveillance to accurately identify and promptly communicate potential safety issues. The African Union Smart Safety Surveillance (AU-3S) program established the Joint Signal Management (JSM) group to support identification of potential vaccine safety concerns in five pilot countries (Ethiopia, Ghana, Kenya, Nigeria, South Africa), accounting for approximately 35% of the African population.
View Article and Find Full Text PDFNature
January 2025
Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.
Personalized antisense oligonucleotides (ASOs) have achieved positive results in the treatment of rare genetic disease. As clinical sequencing technologies continue to advance, the ability to identify patients with rare disease harbouring pathogenic genetic variants amenable to this therapeutic strategy will probably improve. Here we describe a scalable platform for generating patient-derived cellular models and demonstrate that these personalized models can be used for preclinical evaluation of patient-specific ASOs.
View Article and Find Full Text PDFFront Vet Sci
January 2025
Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX, United States.
Duchenne muscular dystrophy (DMD) is an X-linked muscle disease with weakness, loss of ambulation, and premature death. DMD patients have reduced bone health, including decreased femur length (FL), density, and fractures. The mouse model has paradoxically greater FL, density, and strength, positively correlating with muscle mass.
View Article and Find Full Text PDFFront Cell Dev Biol
January 2025
Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, Netherlands.
Muscle repair and regeneration are complex processes. In Duchenne muscular dystrophy (DMD), these processes are disrupted by the loss of functional dystrophin, a key part of the transmembrane dystrophin-associated glycoprotein complex that stabilizes myofibers, indirectly leading to progressive muscle wasting, subsequent loss of ambulation, respiratory and cardiac insufficiency, and premature death. As part of the DMD pathology, histone deacetylase (HDAC) activity is constitutively increased, leading to epigenetic changes and inhibition of muscle regeneration factors, chronic inflammation, fibrosis, and adipogenesis.
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