Satisfaction of Online University Education during the COVID-19 Pandemic.

The rapid global spread of the coronavirus disease affected the education sector, which had to adapt its teaching methodology to an online scenario to curb the increase in infections. This study aimed to determine the satisfaction level of university students regarding the online education they received during the COVID-19 pandemic. A descriptive cross-sectional study was carried out with nursing degree students. Convenience sampling was used because of the accessibility of the sample, estimating 168 as the minimum sample size needed. The satisfaction level was measured using the "Questionnaire on Satisfaction of University Students with Online Training" (CUSAUF). The sample consisted of 215 participants. The overall level of satisfaction was high. Subject content and teaching methodology were the most highly rated aspects, while aspects related to lecturer-student communication and communication among students were rated the worst. The Cronbach's α for the satisfaction scale was 0.94, showing high internal consistency and reliability of the sample. Online education could be considered an alternative methodology for teaching learning modules or complementing face-to-face training in future training programs.

Characterization of cardiac involvement in children with LMNA-related muscular dystrophy.

Introduction: LMNA-related muscular dystrophy is a rare entity that produce "laminopathies" such as Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy type 1B (LGMD1B), and LMNA-related congenital muscular dystrophy (L-CMD). Heart failure, malignant arrhythmias, and sudden death may occur. No consensus exists on cardiovascular management in pediatric laminopathies. The aim was to perform an exhaustive cardiologic follow-up in pediatric patients diagnosed with LMNA-related muscular dystrophy. Methods: Baseline cardiac work-up consisted of clinical assessment, transthoracic Doppler echocardiography, 12-lead electrocardiogram, electrophysiological study, and implantation of a long-term implantable cardiac loop recorder (ILR). Results: We enrolled twenty-eight pediatric patients diagnosed with EDMD (13 patients), L-CMD (11 patients), LGMD1B (2 patients), and LMNA-related mild weakness (2 patients). Follow-up showed dilated cardiomyopathy (DCM) in six patients and malignant arrhythmias in five (four concomitant with DCM) detected by the ILR that required implantable cardioverter defibrillator (ICD) implantation. Malignant arrhythmias were detected in 20% of our cohort and early-onset EDMD showed worse cardiac prognosis. Discussion: Patients diagnosed with early-onset EDMD are at higher risk of DCM, while potentially life-threatening arrhythmias without DCM appear earlier in L-CMD patients. Early onset neurologic symptoms could be related with worse cardiac prognosis. Specific clinical guidelines for children are needed to prevent sudden death.

Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy.

BACKGROUND AND PURPOSE: Mos scales currently used to evaluate spinal muscular atrophy (SMA) patients have only been validated in children. The aim of this study was to assess the construct validity and responsiveness of several outcome measures in adult SMA patients. METHODS: Patients older than 15 years and followed up in five referral centres for at least 6 months, between October 2015 and August 2020, with a motor function scale score (Hammersmith Functional Motor Scale Expanded [HFMSE], Revised Upper Limb module [RULM]) were included. Bedside functional scales (Egen Klassification [EK2], Revised Amyotrophic Lateral Sclerosis Functional Rating Scale [ALSFRS-R]) were also collected when available. Spearman's rho correlations (rs) and Bangdiwala's concordance test (B) were used to evaluate the scales' construct validity. Monthly slopes of change were used to calculate their responsiveness of the scales. RESULTS: The study included 79 SMA patients, followed up for a mean of 16 months. All scales showed strong correlations with each other (rs > 0.70). A floor effect in motor function scales was found in the weakest patients (HFMSE < 5 and RULM < 10), and a ceiling effect was found in stronger patients (HFMSE > 60 and RULM > 35). The ALSFRS-R (B = 0.72) showed a strong ability to discriminate between walkers, sitters and non-sitters, and the HFMSE (B = 0.86) between walkers and sitters. The responsiveness was low overall, although in treated patients a moderate responsiveness was found for the ALSFRS-R and HFMSE in walkers (0.69 and 0.61, respectively) and for EK2 in sitters (0.65) and non-sitters (0.60). CONCLUSIONS: This study shows the validity and limitations of the scales most frequently used to assess adult SMA patients. Overall, bedside functional scales showed some advantages over motor scales, although all showed limited responsiveness.

Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' study.

BACKGROUND AND PURPOSE: The aim was to assess the safety and efficacy of nusinersen in adult 5q spinal muscular atrophy (SMA) patients. METHODS: Patients older than 15 years and followed for at least 6 months with one motor scale (Hammersmith Functional Motor Scale Expanded, HFMSE; Revised Upper Limb Module, RULM) in five referral centers were included. The clinical and patients' global impression of change (CGI-C and PGI-C) were recorded in treated patients at the last visit. Functional scales (Egen Klassification, EK2; Revised Amyotrophic Lateral Sclerosis Functional Rating Scale, ALSFRS-R) and the percentage predicted forced vital capacity were collected when available. RESULTS: Seventy-nine SMA patients (39 treated with nusinersen) were included. Compared with untreated patients, treated patients showed a significant improvement of 2 points (±0.46) in RULM (p < 0.001) after 6 months. After a mean follow-up of 16 months, nusinersen treatment was associated with a significant improvement in HFMSE (odds ratio [OR] 1.15, p = 0.006), the 6-min walk test (OR = 1.07, p < 0.001) and the EK2 (OR = 0.81, p = 0.001). Compared with untreated patients, more treated patients experienced clinically meaningful improvements in all scales, but these differences were statistically significant only for RULM (p = 0.033), ALSFRS-R (p = 0.005) and EK2 (p < 0.001). According to the CGI-C and PGI-C, 64.1% and 61.5% of treated patients improved with treatment. Being a non-sitter was associated with less response to treatment, whilst a longer time of treatment was associated with better response. Most treated patients (77%) presented at least one adverse event, mostly mild. CONCLUSIONS: Nusinersen treatment is associated with some improvements in adult SMA patients. Most severely affected patients with complex spines are probably those with the most unfavorable risk-benefit ratio.

[Advances in the treatment of Duchenne muscular dystrophy]. / Avances en el tratamiento de la distrofia de Duchenne.

Duchenne muscular dystrophy is a genetically determined disease, linked to the X chromosome, c haracterized clinically by producing progressive muscle weakness, with an incidence of 1 per 3500-6000 males born. It is caused by the mutation of the DMD gene, which encodes dystrophin, a sub-sarcolemmal protein essential for structural muscle stability. The genetic defects in the DMD gene are divided into: deletions (65%) duplications (5.10%) and point mutations (10-15%). At present there is no curative treatment, the only drug that has been shown to modify the natural history of the disease (independently of the genetic mutation) are corticosteroids, currently indicated in early stages of the disease. In relation to clinical trials, in the last ten years, has experienced great advances in the field of therapeutic options, divided into two major therapeutic targets: 1) the area of gene therapies and 2) trying to reverse or block the pathophysiological processes of the disease, such as inflammation, fibrosis, muscle regeneration, etc. It is likely that an effective treatment for Duchenne muscular dystrophy requires combinations of therapies that address both the primary defect and its secondary pathophysiological consequences.

La distrofia muscular de Duchenne es una enfermedad genéticamente determinada, ligada al cromosoma X y caracterizada clínicamente por producir debilidad muscular progresiva, con una incidencia de 1 por cada 3500-6000 varones nacidos. Es causada por la mutaciones en el gen DMD, el cual codifica la distrofina, una proteína sub-sarcolémica esencial para la estabilidad estructural del músculo. Los defectos genéticos en el gen DMD, se dividen en: deleciones (65%) duplicaciones (5-10%) y mutaciones puntuales (10-15%). Actualmente no se dispone de tratamiento curativo, el único fármaco que ha demostrado modificar la historia natural de la enfermedad (independientemente de la mutación genética) son los corticoides, los cuales están indicados en estadios tempranos de la enfermedad. En relación a los ensayos clínicos, en los últimos diez años se han experimentado grandes avances en el campo de las opciones terapéuticas, divididos en dos grandes dianas terapéuticas: 1) el área de las terapias génicas y 2) tratar de revertir o bloquear los procesos fisiopatológicos de la enfermedad, tales como inflamación, fibrosis, regeneración muscular, etc. Es probable que un tratamiento eficaz para la distrofia muscular de Duchenne requiera combinaciones que se apliquen tanto al defecto primario como las consecuencias fisiopatológicas secundarias.

[Diagnosis and treatment of congenital myopaties]. / Diagnóstico y tratamiento de las miopatías congénitas.

Important advances have been made in the field of congenital myopathies in recent years, forcing clinicians to constantly review and update this group of diseases. The increasing identification of new genes and phenotypes associated with already known genes has been possible to a great extent thanks to the development accomplished in next generation sequencing techniques, which are increasingly accessible. Knowing better the phenotypic spectrum of these entities allows to establish a phenotype/genotype correlation in some subgroups. The best understanding of the pathophysiology and natural history of these diseases are fundamental to design new therapies. The first clinical trials in the field of gene therapy are already a reality and are showing positive results, creating a new expectation for patients, families and specialists, which will be reflected in the need to adapt the protocols of care, diagnosis and treatment of some of these entities. It is essential that pediatric neurologists, pediatricians, physiotherapists and other professionals involved in the care of these patients are informed and updated on the advances in this group of diseases.

Existen importantes avances en el campo de las miopatías congénitas en los últimos años que obligan a la revisión y actualización constante de este grupo de enfermedades. La identificación creciente de nuevos genes y fenotipos asociados a genes ya conocidos, fue posible en gran medida gracias al avance de las técnicas de secuenciación de nueva generación, cada vez más accesibles. El conocer mejor el espectro fenotípico de estas entidades, permite establecer una correlación fenotipo/genotipo en algunos subgrupos. La mejor compresión de la fisiopatología e historia natural de estas enfermedades, son fundamentales para el desarrollo de nuevas terapias. Los primeros ensayos clínicos en el campo de la terapia génica ya son una realidad y están mostrando resultados positivos, creando una nueva expectativa en paciente, familiares y especialistas, lo que se verá reflejado en la necesidad de adaptar los protocolos de atención, diagnóstico y tratamiento de algunas de estas entidades. Es fundamental que los neuropediatras, pediatras, fisioterapeutas y otros profesionales involucrados en el cuidado de estos pacientes, estén informados y actualizados de los avances en este grupo de enfermedades.

Diagnóstico y tratamiento de las miopatías congénitas / Diagnosis and treatment of congenital myopaties

Existen importantes avances en el campo de las miopatías congénitas en los últimos años que obligan a la revisión y actualización constante de este grupo de enfermedades. La identificación creciente de nuevos genes y fenotipos asociados a genes ya conocidos, fue posible en gran medida gracias al avance de las técnicas de secuenciación de nueva generación, cada vez más accesibles. El conocer mejor el espectro fenotípico de estas entidades, permite establecer una correlación fenotipo/genotipo en algunos subgrupos. La mejor compresión de la fisiopatología e historia natural de estas enfermedades, son fundamentales para el desarrollo de nuevas terapias. Los primeros ensayos clínicos en el campo de la terapia génica ya son una realidad y están mostrando resultados positivos, creando una nueva expectativa en paciente, familiares y especialistas, lo que se verá reflejado en la necesidad de adaptar los protocolos de atención, diagnóstico y tratamiento de algunas de estas entidades. Es fundamental que los neuropediatras, pediatras, fisioterapeutas y otros profesionales involucrados en el cuidado de estos pacientes, estén informados y actualizados de los avances en este grupo de enfermedades.

Important advances have been made in the field of congenital myopathies in recent years, forcing clinicians to constantly review and update this group of diseases. The increasing identification of new genes and phenotypes associated with already known genes has been possible to a great extent thanks to the development accomplished in next generation sequencing techniques, which are increasingly accessible. Knowing better the phenotypic spectrum of these entities allows to establish a phenotype/genotype correlation in some subgroups. The best understanding of the pathophysiology and natural history of these diseases are fundamental to design new therapies. The first clinical trials in the field of gene therapy are already a reality and are showing positive results, creating a new expectation for patients, families and specialists, which will be reflected in the need to adapt the protocols of care, diagnosis and treatment of some of these entities. It is essential that pediatric neurologists, pediatricians, physiotherapists and other professionals involved in the care of these patients are informed and updated on the advances in this group of diseases.

Avances en el tratamiento de la distrofia de Duchenne / Advances in the treatment of Duchenne muscular dystrophy

La distrofia muscular de Duchenne es una enfermedad genéticamente determinada, ligada al cromosoma X y caracterizada clínicamente por producir debilidad muscular progresiva, con una incidencia de 1 por cada 3500-6000 varones nacidos. Es causada por la mutaciones en el gen DMD, el cual codifica la distrofina, una proteína sub-sarcolémica esencial para la estabilidad estructural del músculo. Los defectos genéticos en el gen DMD, se dividen en: deleciones (65%) duplicaciones (5-10%) y mutaciones puntuales (10-15%). Actualmente no se dispone de tratamiento curativo, el único fármaco que ha demostrado modificar la historia natural de la enfermedad (independientemente de la mutación genética) son los corticoides, los cuales están indicados en estadios tempranos de la enfermedad. En relación a los ensayos clínicos, en los últimos diez años se han experimentado grandes avances en el campo de las opciones terapéuticas, divididos en dos grandes dianas terapéuticas: 1) el área de las terapias génicas y 2) tratar de revertir o bloquear los procesos fisiopatológicos de la enfermedad, tales como inflamación, fibrosis, regeneración muscular, etc. Es probable que un tratamiento eficaz para la distrofia muscular de Duchenne requiera combinaciones que se apliquen tanto al defecto primario como las consecuencias fisiopatológicas secundarias.

Duchenne muscular dystrophy is a genetically determined disease, linked to the X chromosome, c haracterized clinically by producing progressive muscle weakness, with an incidence of 1 per 3500-6000 males born. It is caused by the mutation of the DMD gene, which encodes dystrophin, a sub-sarcolemmal protein essential for structural muscle stability. The genetic defects in the DMD gene are divided into: deletions (65%) duplications (5.10%) and point mutations (10-15%). At present there is no curative treatment, the only drug that has been shown to modify the natural history of the disease (independently of the genetic mutation) are corticosteroids, currently indicated in early stages of the disease. In relation to clinical trials, in the last ten years, has experienced great advances in the field of therapeutic options, divided into two major therapeutic targets: 1) the area of gene therapies and 2) trying to reverse or block the pathophysiological processes of the disease, such as inflammation, fibrosis, muscle regeneration, etc. It is likely that an effective treatment for Duchenne muscular dystrophy requires combinations of therapies that address both the primary defect and its secondary pathophysiological consequences.