An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation.

Myotonic dystrophy type 1 (DM1) is a progressive, non-treatable, multi-systemic disorder. To investigate the contribution of epigenetics to the complexity of DM1, we compared DNA methylation profiles of four annotated CpG islands (CpGis) in the DMPK locus and neighbouring genes, in distinct DM1 tissues and derived cells, representing six DM1 subtypes, by bisulphite sequencing. In blood, we found no differences in CpGi 74, 43 and 36 in DNA methylation profile. In contrast, a CTCF1 DNA methylation gradient was found with 100% methylation in congenital cases, 50% in childhood cases and 13% in juvenile cases. CTCF1 methylation correlated to disease severity and CTG expansion size. Notably, 50% of CTCF1 methylated cases showed methylation in the CTCF2 regions. Additionally, methylation was associated with maternal transmission. Interestingly, the evaluation of seven families showed that unmethylated mothers passed on an expansion of the CTG repeat, whereas the methylated mothers transmitted a contraction. The analysis of patient-derived cells showed that DNA methylation profiles were highly preserved, validating their use as faithful DM1 cellular models. Importantly, the comparison of DNA methylation levels of distinct DM1 tissues revealed a novel muscle-specific epigenetic signature with methylation of the CTCF1 region accompanied by demethylation of CpGi 43, a region containing an alternative DMPK promoter, which may decrease the canonical promoter activity. Altogether, our results showed a distinct DNA methylation profile across DM1 tissues and uncovered a novel and dual epigenetic signature in DM1 muscle samples, providing novel insights into the epigenetic changes associated with DM1.

Impacto de brote por Covid-19 en las causas de egresos hospitalarios a nivel nacional por enfermedades del sistema nervioso central en población pediátrica durante el primer año de pandemia en Chile / Impact of Covid-19 outbreak in the causes of hospital discharges at national level due to central nervous system diseases in pediatric population during the first year of pandemic in Chile

INTRODUCCIÓN: La pandemia por Covid-19 ha generado cambios en la atención de salud nacional, observándose en este período cambios en las causas de egresos hospitalarios (EH). OBJETIVO: Analizar el impacto del brote de Covid-19 en las causas de EH por enfermedades del Sistema Nervioso Central (ESNC) en población pediátrica durante el primer año de pandemia. MÉTODO: Estudio transversal. Análisis de base de datos del Departamento de Estadística e Información en Salud en pacientes de 0 a 18 años, comparando años 2019 y 2020. RESULTADOS: En 2020 se redujeron EH por ESNC en un 39% comparado con 2019. Disminuyeron principalmente los EH por secuelas de enfermedades inflamatorias SNC, parálisis cerebral, migraña y paraplejia/cuadriplejia, aumentando los EH por isquemia cerebral transitoria, enfermedades desmielinizantes SNC y polineuropatía inflamatoria. El número EH por ESNC mensual se correlacionó con el número de casos Covid-19 (rho -0.774, p0.003) y con la movilidad mensual del país (rho 0.928, p 0.001). CONCLUSIONES: El impacto del brote Covid-19 se asoció con reducción de EH por ESNC, disminuyeron EH por patologías crónicas y aumentaron causas agudas.

INTRODUCTION: The Covid-19 pandemic has been associated with modifications in national health care, with changes in causes of hospital discharges (HD) in this period. OBJECTIVE: To analyze the impact of the Covid-19 outbreak on causes of HD due to Central Nervous System Diseases (CNSD) in pediatric population during the first year of pandemic. METHOD: Cross-sectional study. Analysis of database of the Department of Statistics and Health Information in patients aged 0 to 18 years, comparing 2019 and 2020. RESULTS: In 2020, HD due to CNSD were reduced in 39% compared to 2019. HD causes that mainly decreased were inflammatory CNS disease sequelae, cerebral palsy, migraine and paraplegia/cuadriplegia. The HD that increased were transient cerebral ischemia, CNS demyelinating diseases and inflammatory polyneuropathy. The monthly HD due to CNSD number was correlated with the number of Covid-19 cases (rho -0.774, p0.003) and with the country's monthly mobility (rho 0.928, p 0.001). CONCLUSIONS: Covid-19 pandemic was associated with a reduction in HD due to CNSD, with decrease of EH due to chronic pathologies and increase of acute diseases

Los niños, niñas y adolescentes como prosumidores de podcast sobre sus derechos / Children and adolescents as podcast prosumers about their rights

Webinar N° 98 realizado el 7 de diciembre de 2021, El Organismo andino de salud convenio Hipolito Unanue presenta los resultados del estudio orientado a la evaluación de los cambios y aprendizajes identificados por los niños, niñas y adolescentes prosumidores participantes en los podcasts Pandemic Tips, Los niños, niñas y adolescentes tenemos la palabra, vota por la niñez realizados como estrategia de participación social y digital.

Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome.

GMPPB mutations cause congenital myasthenic syndromes (CMS) overlapping with muscular dystrophy. Treatment with pyridostigmine has been reported to be effective in those patients. Nevertheless, results of functional motor assessments to determine its precise impact on the short and long term were not available. We describe the response to treatment with pyridostigmine in three siblings with GMPPB-related CMS using functional motor scales performed regularly over a period of 40 months. The beneficial effect of the treatment was outstanding within the first hours, with all the scales showing a dramatic increase in only two days. This remarkable improvement remained steady during 12 months but a moderate decrease was subsequently detected in two of the three patients. Despite this decline in the scores of the scales at the end of follow up, the functional motor status of the patients was still significantly better than it was before starting treatment. The introduction of pyridostigmine at an early age of the disease in one of the patients, before the onset of scoliosis, may have had a protective effect on it.

Simulation of the spatial distribution of the acoustic pressure in sonochemical reactors with numerical methods: a review.

Numerical methods for the calculation of the acoustic field inside sonoreactors have rapidly emerged in the last 15 years. This paper summarizes some of the most important works on this topic presented in the past, along with the diverse numerical works that have been published since then, reviewing the state of the art from a qualitative point of view. In this sense, we illustrate and discuss some of the models recently developed by the scientific community to deal with some of the complex events that take place in a sonochemical reactor such as the vibration of the reactor walls and the nonlinear phenomena inherent to the presence of ultrasonic cavitation. In addition, we point out some of the upcoming challenges that must be addressed in order to develop a reliable tool for the proper designing of efficient sonoreactors and the scale-up of sonochemical processes.

Frequency effects on the surface coverage of nitrophenyl films ultrasonically grafted onto indium tin oxide.

The covalent attachment of various organic molecules on conductive supports including indium tin oxide (ITO) using diazonium chemistry has been known for many years. A commonly used method to achieve this is the electrochemical reduction of diazonium compounds leading to radicals, followed by binding of the radicals to the support. In the present report, an alternative method using ultrasound at different frequencies (20, 582, 863, and 1142 kHz) to induce the surface grafting of nitrobenzene diazonium onto an ITO surface is described. It is shown that the grafting on ITO is more efficient in the lower ultrasonic frequency range that is ascribed to changes in the balance between the physical and chemical effects of cavitation with frequency. Both the physical and chemical effects of cavitation play important roles at all frequencies, but at high ultrasound frequencies, the physical effects are relatively small. At 20 kHz, the physical component, including mass transport, is larger than at higher frequencies, and mechanisms based on these observations have been proposed. Ultrasonic grafting has an advantage over electrografting in that it may provide more control over surface coverage, thus it is suggested that the ultrasonic method is used where the surface concentration of the organic layer must be controlled.

20 kHz sonoelectrochemical degradation of perchloroethylene in sodium sulfate aqueous media: influence of the operational variables in batch mode.

A preliminary study of the 20 kHz sonoelectrochemical degradation of perchloroethylene in aqueous sodium sulfate has been carried out using controlled current density degradation sonoelectrolyses in batch mode. An important improvement in the viability of the sonochemical process is achieved when the electrochemistry is implemented, but the improvement of the electrochemical treatment is lower when the 20 kHz ultrasound field is simultaneously used. A fractional conversion of 100% and degradation efficiency around 55% are obtained independently of the ultrasound power used. The current efficiency is also enhanced compared to the electrochemical treatment and a higher speciation is also detected; the main volatile compounds produced in the electrochemical and sonochemical treatment, trichloroethylene and dichloroethylene, are not only totally degraded, but also at shorter times than in the sonochemical or electrochemical treatments.

Current topics on sonoelectrochemistry.

Sonoelectrochemistry is undergoing a reemerging activity in the last years with an increasing number of papers appearing in a wide range of peer review journals. Applied studies which cover environmental treatments, synthesis or characterization of nanostructures, polymeric materials synthesis, analytical procedures, films preparations, membrane preparations among other interesting applications have been reviewed. The revised fundamental analyses trying to elucidate the mechanism of the interactions between the ultrasound and electrical fields, are focused on test electrochemical processes, on the use of unconventional solvents and combination with other techniques. After the review of the achievements and faults of sonoelectrochemistry, future research lines are suggested.

Sonoelectrochemical synthesis of nanoparticles.

This article reviews the nanomaterials that have been prepared to date by pulsed sonoelectrochemistry. The majority of nanomaterials produced by this method are pure metals such as silver, palladium, platinum, zinc, nickel and gold, but more recently the syntheses have been extended to include the preparation of nanosized metallic alloys and metal oxide semiconductors. A major advantage of this methodology is that the shape andsize of the nanoparticles can be adjusted by varying the operating parameters which include ultrasonic power, current density, deposition potential and the ultrasonic vs electrochemical pulse times. Together with these, it is also possible to adjust the pH, temperature and composition of the electrolyte in the sonoelectrochemistry cell.

Sonopotential: a new concept in electrochemistry.

The application of ultrasound to a solution in contact with a semiconductor working electrode leads to a change in its open circuit potential, that is, to the appearance of a sonopotential sensitive to both ultrasonic power and solution composition.

Electrochemical degradation of perchloroethylene in aqueous media: an approach to different strategies.

An approaching study to the electrochemical degradation of perchloroethylene (PCE) in water has been carried out using controlled current density degradation electrolyses. The different electrochemical strategies to degrade perchloroethylene in aqueous media (i.e. cathodic, anodic and dual treatments) have been checked using divided and undivided configurations. The influence of the initial concentration, pH and current density on the general behavior of the system has been studied, and special attention was paid to the nature of the byproducts formed and to the analysis of the closed mass balance at the end of the reaction. Results from several analytical techniques have been compared. Undivided configuration provides the best results in these experimental conditions, with degradation percentages higher than 50% and with only 6% of the initial perchloroethylene concentration remaining in the system.