We have described the frequency of common muscular dystrophies in Mexico.

Non-invasive biological indicators of the absence/presence or progress of the disease that could be used to support diagnosis and to evaluate the effectiveness of treatment are of utmost importance in Duchenne Muscular Dystrophy (DMD). This neuromuscular disorder affects male children, causing weakness and disability, whereas female relatives are at risk of being carriers of the disease. A biomarker with both high sensitivity and specificity for accurate prediction is preferred. Until now creatine kinase (CK) levels have been used for DMD diagnosis but these fail to assess disease progression. Herein we examined the potential applicability of serum levels of matrix metalloproteinase 9 (MMP-9) and matrix metalloproteinase 2 (MMP-2), tissue inhibitor of metalloproteinases 1 (TIMP-1), myostatin (GDF-8) and follistatin (FSTN) as non-invasive biomarkers to distinguish between DMD steroid naïve patients and healthy controls of similar age and also for carrier detection. Our data suggest that serum levels of MMP-9, GDF-8 and FSTN are useful to discriminate DMD from controls (p < 0.05), to correlate with some neuromuscular assessments for DMD, and also to differentiate between Becker muscular dystrophy (BMD) and Limb-girdle muscular dystrophy (LGMD) patients. In DMD individuals under steroid treatment, GDF-8 levels increased as FSTN levels decreased, resembling the proportions of these proteins in healthy controls and also the baseline ratio of patients without steroids. GDF-8 and FSTN serum levels were also useful for carrier detection (p < 0.05). Longitudinal studies with larger cohorts are necessary to confirm that these molecules correlate with disease progression. The biomarkers presented herein could potentially outperform CK levels for carrier detection and also harbor potential for monitoring disease progression.

DMD is a rare disorder characterized by progressive muscle degeneration and premature death. Therapy development is delayed by difficulties to monitor efficacy non‐invasively in clinical trials. In this study, we used RNA‐sequencing to describe the pathophysiological changes in skeletal muscle of 3 dystrophic mouse models. We show how dystrophic changes in muscle are reflected in blood by analyzing paired muscle and blood samples. Analysis of repeated blood measurements followed the dystrophic signature at five equally spaced time points over a period of seven months. Treatment with two antisense drugs harboring different levels of dystrophin recovery identified genes associated with safety and efficacy. Evaluation of the blood gene expression in a cohort of DMD patients enabled the comparison between preclinical models and patients, and the identification of genes associated with physical performance, treatment with corticosteroids and body measures. The presented results provide evidence that blood RNA‐sequencing can serve as a tool to evaluate disease progression in dystrophic mice and patients, as well as to monitor response to (dystrophin‐restoring) therapies in preclinical drug development and in clinical trials.

Background: The development of skills, behaviors and attitudes regarding patient safety is of utmost importance for promoting safety culture for the next generation of health professionals. This study describes our experience of implementing a course on patient safety and quality improvement for fourth year medical students in Mexico during the COVID-19 outbreak. The course comprised essential knowledge based on the patient safety curriculum provided by the WHO. We also explored perceptions and attitudes of students regarding patient safety. Methods: Fourth year medical students completed a questionnaire regarding knowledge, skills, and attitudes on patient safety and quality improvement in medical care. The questionnaire was voluntarily answered online prior to and after the course. Results: In total, 213 students completed the questionnaires. Most students were able to understand medical error, recognize failure and the nature of causation, perform root-cause analysis, and appreciate the role of patient safety interventions. Conversely, a disapproving perspective prevailed among students concerning the preventability of medical errors, utility of reporting systems, just culture and infrastructure (p < 0.05). Conclusion: We found students had a positive perspective concerning learning quality in healthcare and patient safety during our course; nevertheless, their perception of the usefulness of reporting systems to prevent future adverse events and prevent medical errors is uncomplimentary. Medical education should promote error reporting and just culture to change the current perception of medical students.