Use of Sodium Channel Blockers in the Thr226Met Pathologic Variant of SCN1A: A Case Report.

The Thr226Met pathologic variant of the SCN1A gene has been associated with the clinical development of an early infantile developmental and epileptic encephalopathy (EIDEE) different from Dravet's syndrome. The electrophysiological mechanisms of the mutated channel lead to a paradoxical gain and loss of function. The use of sodium channel blockers (SCB) that counteract this gain of function has been described in previous studies and they can be safely administered to patients carrying mutations in other sodium channel subtypes without causing a worsening of seizures. We report the use of SCB in a child harboring the Thr226Met pathologic variant of SCN1A with early-onset pharmaco-resistant migrating seizures, as well as developmental delay. Lacosamide led to a dramatic reduction in seizure frequency; however, only a mild improvement in the epileptic activity depicted by electroencephalography (EEG) was achieved. The introduction of carbamazepine as an add-on therapy led to a notable reduction in epileptic activity via EEG and to an improvement in sensorimotor development. Despite the overall clinical improvement, the patient developed febrile seizures and a nonepileptic jerking of the right hand. In this case of EIDEE with the Thr226Met variant, we demonstrate a beneficial pharmacological intervention of SCB in contrast to findings described in current literature. Our report encourages the cautious use of SCB at early stages of the disease in patients carrying this pathologic variant.

A comparative analysis of biopolymer production by microbial and bioelectrochemical technologies.

Production of biopolymers from renewable carbon sources provides a path towards a circular economy. This review compares several existing and emerging approaches for polyhydroxyalkanoate (PHA) production from soluble organic and gaseous carbon sources and considers technologies based on pure and mixed microbial cultures. While bioplastics are most often produced from soluble sources of organic carbon, the use of carbon dioxide (CO2) as the carbon source for PHA production is emerging as a sustainable approach that combines CO2 sequestration with the production of a value-added product. Techno-economic analysis suggests that the emerging approach of CO2 conversion to carboxylic acids by microbial electrosynthesis followed by microbial PHA production could lead to a novel cost-efficient technology for production of green biopolymers.

[Respiratory physiotherapy in post-acute COVID-19 adult patients: Systematic review of literature]. / Fisioterapia respiratoria en pacientes adultos post-COVID-19: revisión sistemática de la literatura.

Background: Patients with SARS-CoV-2 present signs and symptoms that primarily involve the respiratory system. The sequelae result in impaired quality of life, pneumonia, dyspnea, fatigue, and joint pain. Objective: To sustain with scientific evidence the importance of respiratory physiotherapy and its effects on post-acute COVID-19 adult patients. Material and methods: A systematic review was conducted in four databases (Scopus, Web of Science, PubMed, and ScienceDirect). The searching period was carried out in February 2021 with a total of one 1229 potential studies. Finally, 5 studies that met the eligibility criteria were included: two clinical trials, two case reports and one cross-sectional study. The methodological quality of the articles was evaluated. Results: Respiratory muscle training, targeted breathing, and strength training provide significant data of improvement of functional performance. Evidence shows positive effects of respiratory physiotherapy in post-acute COVID-19 adult patients, since it increases resistance to exercise, it decreases fatigue, reduces dyspnea, improves functionality and quality of life. Conclusions: More future studies, such as randomized controlled trials, studies including lower age range groups, and individualized approaches, need to be developed.

Introducción: los pacientes con SARS-CoV-2 presentan signos y síntomas que involucran principalmente el sistema respiratorio. Las secuelas son consecuencia de un deterioro de la calidad de vida, neumonía, fatiga, disnea y dolor articular. Objetivo: tener el sustento científico que permita evidenciar la importancia de la fisioterapia respiratoria y sus efectos sobre los pacientes adultos post-COVID-19 de fase aguda. Material y métodos: se hizo una revisión sistemática de la literatura en cuatro bases de datos (Scopus, Web of Science, PubMed y ScienceDirect). La búsqueda fue realizada en febrero de 2021 con un total de 1229 estudios. Finalmente, se incluyeron cinco estudios que cumplieron con los criterios de elegibilidad: dos ensayos clínicos, dos reportes de caso y un estudio transversal. La calidad metodológica de las publicaciones fue evaluada. Resultados: el entrenamiento de la musculatura respiratoria, las respiraciones dirigidas y el fortalecimiento general dan datos significativos en la mejora de la funcionalidad. La evidencia demuestra que hay efectos positivos de la fisioterapia respiratoria en pacientes adultos post-COVID-19, pues aumenta la resistencia al ejercicio, disminuye la fatiga, se reduce la disnea, mejora la funcionalidad y la calidad de vida. Conclusiones: es necesario que se desarrollen más ensayos clínicos aleatorizados y estudios de grupos de menor rango de edad y con enfoques individualizados.

Fisioterapia respiratoria en pacientes adultos post-COVID-19: revisión sistemática de la literatura / Respiratory physiotherapy in post-acute COVID-19 adult patients: Systematic review of literature

Introducción: los pacientes con SARS-CoV-2 presentan signos y síntomas que involucran principalmente el sistema respiratorio. Las secuelas son consecuencia de un deterioro de la calidad de vida, neumonía, fatiga, disnea y dolor articular. Objetivo: tener el sustento científico que permita evidenciar la importancia de la fisioterapia respiratoria y sus efectos sobre los pacientes adultos post-COVID-19 de fase aguda. Material y métodos: se hizo una revisión sistemática de la literatura en cuatro bases de datos (Scopus, Web of Science, PubMed y ScienceDirect). La búsqueda fue realizada en febrero de 2021 con un total de 1229 estudios. Finalmente, se incluyeron cinco estudios que cumplieron con los criterios de elegibilidad: dos ensayos clínicos, dos reportes de caso y un estudio transversal. La calidad metodológica de las publicaciones fue evaluada. Resultados: el entrenamiento de la musculatura respiratoria, las respiraciones dirigidas y el fortalecimiento general dan datos significativos en la mejora de la funcionalidad. La evidencia demuestra que hay efectos positivos de la fisioterapia respiratoria en pacientes adultos post-COVID-19, pues aumenta la resistencia al ejercicio, disminuye la fatiga, se reduce la disnea, mejora la funcionalidad y la calidad de vida. Conclusiones: es necesario que se desarrollen más ensayos clínicos aleatorizados y estudios de grupos de menor rango de edad y con enfoques individualizados.

Background: Patients with SARS-CoV-2 present signs and symptoms that primarily involve the respiratory system. The sequelae result in impaired quality of life, pneumonia, dyspnea, fatigue, and joint pain.

Development of Laterality and Bimanual Interference of Fine Motor Movements in Childhood and Adolescence.

Drawing and handwriting are fine motor skills acquired during childhood. We analyzed the development of laterality by comparing the performance of the dominant with the nondominant hand and the effect of bimanual interference in kinematic hand movement parameters (speed, automation, variability, and pressure). Healthy subjects (n = 187, 6-18 years) performed drawing tasks with both hands on a digitizing tablet followed by performance in the presence of an interfering task of the nondominant hand. Age correlated positively with speed, automation, and pressure, and negatively with variability for both hands. As task complexity increased, differences between both hands were less pronounced. Playing an instrument had a positive effect on the nondominant hand. Speed and automation showed a strong association with lateralization. Bimanual interference was associated with an increase of speed and variability. Maturation of hand laterality and the extent of bimanual interference in fine motor tasks are age-dependent processes.

The Perception of Spontaneous and Volitional Laughter Across 21 Societies.

Laughter is a nonverbal vocalization occurring in every known culture, ubiquitous across all forms of human social interaction. Here, we examined whether listeners around the world, irrespective of their own native language and culture, can distinguish between spontaneous laughter and volitional laughter-laugh types likely generated by different vocal-production systems. Using a set of 36 recorded laughs produced by female English speakers in tests involving 884 participants from 21 societies across six regions of the world, we asked listeners to determine whether each laugh was real or fake, and listeners differentiated between the two laugh types with an accuracy of 56% to 69%. Acoustic analysis revealed that sound features associated with arousal in vocal production predicted listeners' judgments fairly uniformly across societies. These results demonstrate high consistency across cultures in laughter judgments, underscoring the potential importance of nonverbal vocal communicative phenomena in human affiliation and cooperation.

Detecting affiliation in colaughter across 24 societies.

Laughter is a nonverbal vocal expression that often communicates positive affect and cooperative intent in humans. Temporally coincident laughter occurring within groups is a potentially rich cue of affiliation to overhearers. We examined listeners' judgments of affiliation based on brief, decontextualized instances of colaughter between either established friends or recently acquainted strangers. In a sample of 966 participants from 24 societies, people reliably distinguished friends from strangers with an accuracy of 53-67%. Acoustic analyses of the individual laughter segments revealed that, across cultures, listeners' judgments were consistently predicted by voicing dynamics, suggesting perceptual sensitivity to emotionally triggered spontaneous production. Colaughter affords rapid and accurate appraisals of affiliation that transcend cultural and linguistic boundaries, and may constitute a universal means of signaling cooperative relationships.

Análisis de contenido y lingüística computacional: su rapidez, confiabilidad y perspectivas / Content analysis and computational linguistics: its quickness, reliability and perspectives

El análisis de contenido es una técnica que convierte las respuestas abiertas de entrevistas en categorías. Este proceso es de gran utilidad dado que define las categorías de un estudio sobre la base de la percepción de la muestra, evitando la imposición de categorías creadas por el investigador. Sin embargo, este tipo de análisis conlleva un alto costo de tiempo, recursos y personal especializado. Programas como el ATLAS.ti o el NVivo no constituyen una solución eficaz ni eficiente. Los nuevos programas basados en lingüística computacional ofrecen un escenario diferente, dado que el programa "entiende e interpreta" las categorías. Para comprobar su eficacia y eficiencia se compara un análisis de contenido hecho por expertos con el análisis utilizando el programa SPSS Text Analytics for Surveys (TA). Se concluye que bajo la supervisión de un investigador especializado, siguiendo ciertos pasos de afinamiento de la extracción, el TA permite un ahorro de tiempo importante, una mayor confiabilidad y abre las posibilidades para análisis cualitativos con muestras grandes

Content analysis is a technique that converts open-ended responses into categories. This process is of great value since it defines the categories of a study based on the perception of the sample, avoiding imposed categories created by the researcher. However, this type of analysis involves extensive use of time, resources, and expertise. Programs such as ATLAS.ti or NVivo do not constitute an effective nor efficient solution. New software based on computational linguistics offers a different scenario, as it allows the "understanding and interpretation" of categories. In order to prove its effectiveness and efficiency, content analysis made by experts is compared with analysis using SPSS Text Analytics for Surveys (TA). We conclude that under the supervision of a specialized researcher, TA allows for an important time saving, increased reliability, and opens up possibilities for qualitative analysis of large samples

[Summarized real clinical cases use to learn clinical aptitude]. / Resúmenes clínicos problematizados para el aprendizaje de la clínica.

OBJECTIVE: to evaluate clinical skills indicators (CSI) with summarized real clinical cases (SRCC) by two generations of pregraduates interns. METHODS: with a descriptive survey design 430 SRCC were elaborated according to the CSI: risk factors, clinical diagnosis, laboratory and x-ray diagnosis, commission and omission iatrogenesis procedures, therapeutics, nosology and peer critical medical actions. An evaluation scale for the clinical cases included: a relationship with the clinical experience, and the CSI selected. The final evaluation was considered as adequate or inadequate and was performed independently by three medical social service students. RESULTS: except for family medicine, the SRCC were related to the clinical experience of the students. A 62 % of the total was considered as adequate. The CSI assessed were related to risk factors (18 %), clinical diagnosis (32 %), omission and commission iatrogenesis (9 %), laboratory and x-ray diagnosis resources (16 %), therapeutics (17 %), nosology (9 %) and a critical to peer medical actions (3 %). CONCLUSIONS: the SRCC patients studied from different points of view by the interns included the CSI. Therefore, this action is advisable for the improvement of the patients' clinical approach.