Validez y fiabilidad de la escala DASH

Introducción: La escala de discapacidades del brazo, el hombro y la mano se utiliza para evaluar los miembros superiores como unidad funcional. Este instrumento se encuentra certificado en diferentes idiomas y permite el estudio de diversas patologías especialmente osteomusculares. Objetivo: Consolidar procesos de validación realizados a la escala DASH en idioma español. Métodos: Se realizó una búsqueda bibliográfica en las bases de datos PubMed, Clinical Key, SciELO, Science Direct, Epistemonikos y Google. Se incluyeron los artículos publicados hasta el 31 de agosto de 2020 sin restringir la fecha de inicio. Desarrollo: En la revisión se incluyeron un total de siete estudios, seis de ellos validaron la versión completa de la escala DASH y uno la versión corta, a partir de los siguientes tipos de validación: contenido, de criterio, de constructo, longitudinal y convergente. Fue utilizada en pacientes con manejo quirúrgico, población con cáncer de mama, patologías osteomusculares y pacientes sanos. Esta escala permite evaluar la evolución y efectividad del tratamiento para determinar el impacto de la enfermedad sobre las estructuras y la función del miembro superior. Conclusión: Se recomienda el uso de la escala DASH para evaluar los miembros superiores porque ha evidenciado buenos resultados de validez y fiabilidad; además es un instrumento útil y de bajo costo que permite su implementación en países con escasos recursos o poca inversión en el sistema de salud.

Introduction: The scale of disabilities of the arm, shoulder and hand is used to evaluate the upper limbs as a functional unit. This instrument is certified in different languages and allows the study of various pathologies, especially musculoskeletal diseases. Objective: To consolidate validation processes implemented to the DASH scale in Spanish. Methods: A literature search was performed in the databases PubMed, Clinical Key, SciELO, Science Direct, Epistemonikos and Google. Articles published up to 31 August 2020 were included without restricting the start date. Development: A total of seven studies were included in the review, six of them validated the full version of the DASH scale and one the short version, based on the following types of validation: content, criterion, construct, longitudinal and convergent. It was used in patients with surgical management, population with breast cancer, musculoskeletal pathologies and healthy patients. This scale allows evaluating the evolution and effectiveness of the treatment to determine the impact of the disease on the structures and function of the upper limb. Conclusion: The use of the DASH scale is recommended to evaluate the upper limbs because it has shown good results of validity and reliability. It is also a useful and low-cost instrument that allows its implementation in countries with scarce resources or little investment in the health system.

Clinical-functional characterization of patients with spinal muscular atrophy in Central-Western Colombia / Caracterización clínica y funcional de pacientes con atrofia muscular espinal en el centro-occidente colombiano

Introduction: Spinal muscular atrophy is a rare genetic neurodegenerative disorder affecting the motor neurons of the anterior horn of the spinal cord, which results in muscle atrophy and weakness. In Colombia, few studies have been published on the pathology and none with functional analysis. Objective: To characterize clinically and functionally some cases of spinal muscular atrophy patients from Central-Western Colombia. Materials and methods: We conducted a cross-sectional descriptive study between 2007 and 2020 with patients clinically and molecularly diagnosed with spinal muscular atrophy who attended a care center. For the functional assessment we used the Hammersmith and Chop-Intend scales and the data were systematized with the Epi-Info, version 7.0 software. Results: We analyzed 14 patients (42.8 % men). The most prevalent spinal muscular atrophy was type II with 71.4 %. We found phenotypic variability in terms of functionality in some patients with type II spinal muscular atrophy, 37.5 % of whom reached gait. Survival was estimated at 28.6 years. Conclusions: The findings in the group of patients analyzed revealed that the scores of the revised and expanded Hammersmith scales correlated with the severity of SMA.

Introducción. La atrofia muscular espinal es una enfermedad neurodegenerativa huérfana de origen genético que afecta las neuronas motoras del asta anterior de la médula espinal, y produce atrofia y debilidad muscular. En Colombia, son pocos los estudios publicados sobre la enfermedad y no hay ninguno con análisis funcional. Objetivo. Caracterizar clínica y funcionalmente una serie de casos de atrofia muscular espinal del centro-occidente colombiano. Materiales y métodos. Se hizo un estudio descriptivo transversal, entre el 2007 y el 2020, de pacientes con diagnóstico clínico y molecular de atrofia muscular espinal que consultaron en el centro de atención. La evaluación funcional se realizó con las escalas Hammersmith y Chop Intend. En la sistematización de los datos, se empleó el programa Epi-Info, versión 7.0. Resultados. Se analizaron 14 pacientes: 8 mujeres y 6 hombres. La atrofia muscular espinal más prevalente fue la de tipo II, la cual se presentó en 10 casos. Se encontró variabilidad fenotípica en términos de funcionalidad en algunos pacientes con atrofia muscular espinal de tipo II, cinco de los cuales lograron alcanzar la marcha. La estimación de la supervivencia fue de 28,6 años. Conclusiones. Los hallazgos en el grupo de pacientes analizados evidenciaron que los puntajes de la escala de Hammersmith revisada y expandida, concordaron con la gravedad de la enfermedad.

Caracterización clínica y funcional de pacientes con atrofia muscular espinal en el centro-occidente colombiano / Clinical-functional characterization of patients with spinal muscular atrophy in Central-Western Colombia

Introducción. La atrofia muscular espinal es una enfermedad neurodegenerativa huérfana de origen genético que afecta las neuronas motoras del asta anterior de la médula espinal, y produce atrofia y debilidad muscular. En Colombia, son pocos los estudios publicados sobre la enfermedad y no hay ninguno con análisis funcional. Objetivo. Caracterizar clínica y funcionalmente una serie de casos de atrofia muscular espinal del centro-occidente colombiano. Materiales y métodos. Se hizo un estudio descriptivo transversal, entre el 2007 y el 2020, de pacientes con diagnóstico clínico y molecular de atrofia muscular espinal que consultaron en el centro de atención. La evaluación funcional se realizó con las escalas Hammersmith y Chop Intend. En la sistematización de los datos, se empleó el programa Epi-Info, versión 7.0. Resultados. Se analizaron 14 pacientes: 8 mujeres y 6 hombres. La atrofia muscular espinal más prevalente fue la de tipo II, la cual se presentó en 10 casos. Se encontró variabilidad fenotípica en términos de funcionalidad en algunos pacientes con atrofia muscular espinal de tipo II, cinco de los cuales lograron alcanzar la marcha. La estimación de la supervivencia fue de 28,6 años. Conclusiones. Los hallazgos en el grupo de pacientes analizados evidenciaron que los puntajes de la escala de Hammersmith revisada y expandida, concordaron con la gravedad de la enfermedad.

Introduction: Spinal muscular atrophy is a rare genetic neurodegenerative disorder affecting the motor neurons of the anterior horn of the spinal cord, which results in muscle atrophy and weakness. In Colombia, few studies have been published on the pathology and none with functional analysis. Objective: To characterize clinically and functionally some cases of spinal muscular atrophy patients from Central-Western Colombia. Materials and methods: We conducted a cross-sectional descriptive study between 2007 and 2020 with patients clinically and molecularly diagnosed with spinal muscular atrophy who attended a care center. For the functional assessment we used the Hammersmith and Chop-Intend scales and the data were systematized with the Epi-Info, version 7.0 software. Results: We analyzed 14 patients (42.8 % men). The most prevalent spinal muscular atrophy was type II with 71.4 %. We found phenotypic variability in terms of functionality in some patients with type II spinal muscular atrophy, 37.5 % of whom reached gait. Survival was estimated at 28.6 years. Conclusions: The findings in the group of patients analyzed revealed that the scores of the revised and expanded Hammersmith scales correlated with the severity of SMA.

The role of high mobility proteins (HMGB1) in systemic lupus erythematosus / Papel de las proteínas de alta movilidad (HMGB1) en el lupus eritematoso sistémico

ABSTRACT Introduction: The high mobility group box 1 proteins (HMGB1) are non-histone nuclear proteins reported to be present at high levels in some autoimmune diseases, such as systemic lupus erythematosus (SLE). Likewise, in contrast to healthy individuals, patients with SLE have a higher prevalence of anti-HMGB1 antibodies, and these levels have also been associated with heightened disease activity. This article will discuss the involvement of these proteins in immunology, and review the evidence supporting their clinical importance in SLE. Materials and methods: A narrative review was conducted based on a search of the literature up to October 2018, of articles describing the function, structure, prevalence and importance of HMGB1 in different manifestations of SLE. Articles focusing on the presence of HMGB1 and/or its antibodies in patients with SLE or other autoimmune diseases were also reviewed. Results: A total of 69 articles were found. These articles were the foundation to define the structure and functions of HMBG1, including its role as a cytokine released by immune cells in inflammatory processes and necrosis. Additionally, a description of its functions in phagocytosis and NETosis - that have an impact on autoimmune diseases, primarily in SLE - was included. Conclusion: HMGB1 proteins and anti-HMGB1 antibodies are elevated in the serum of patients with SLE, in contrast with healthy individuals or non-severe presentations of the disease; this suggests that they may play a role as a biomarker of disease activity.

RESUMEN Introducción: Las high mobility group box 1 protein (HMGB1, «proteínas de alta movilidad del grupo 1¼) son proteínas nucleares no histonas cuyos niveles se han documentado elevados en ciertas enfermedades autoinmunes, como el lupus eritematoso sistémico (LES). Igualmente, los pacientes con LES presentan una mayor prevalencia de anticuerpos anti-HMGB1 comparados con individuos sanos, al mismo tiempo que se han relacionado sus niveles con una mayor actividad de la enfermedad. En este artículo se revisará la participación de estas proteínas en la inmunología y se abordará la evidencia que sustenta su importancia clínica en el LES. Materiales y métodos: Se realizó una revisión narrativa basada en la búsqueda de la literatura hasta octubre de 2018, de artículos que describieran la función, estructura, prevalencia e importancia de las HMGB1 en diferentes manifestaciones del LES, así como artículos que hayan estudiado la presencia de las HMGB1 o sus anticuerpos en pacientes con LES u otras enfermedades autoinmunes. Resultados: Se encontraron un total de 69 artículos. Con base en ellos definimos la estructura y funciones de las HMBG1, incluyendo su papel como citocina liberada por células inmunes en procesos inflamatorios y en necrosis. Adicionalmente, describimos sus funciones en la fagocitosis y NETosis, que genera implicaciones en enfermedades autoinmunes, principalmente en el LES. Conclusión: Las proteínas HMGB1 y los anticuerpos anti-HMGB1 se encuentran elevados en suero de pacientes con LES comparados con individuos sanos o con formas no severas de la enfermedad, evidenciando que estas pueden comportarse como un biomarcador de actividad de la enfermedad.

Mortalidad de dientes permanentes y sus principales causas en usuarios de Unidades Comunitarias de Salud Familiar en los municipios de Mizata, Ilobasco y San Pedro Masahuat. El Salvador, 2016 / Mortality of permanent teeth and its main causes in users of Community Family Health Units in the municipalities of Mizata, Ilobasco and San Pedro Masahuat. El Salvador, 2016

Objetivo: Determinar la mortalidad de dientes permanentes y sus principales causas en usuarios atendidos en las Unidades Comunitarias de Salud Familiar (UCSF) en los municipios de Mizata, Ilobasco y San Pedro Masahuat, El Salvador, 2016. Metodología: Se evaluó una muestra de 1,054 usuarios de las UCSF Mizata, Ilobasco y Las Isletas ubicadas en los departamentos de La Libertad, Cabañas y La Paz respectivamente, con edades de 7 a más de 60 años. Es un estudio descriptivo, observacional y transversal, que determinó la mortalidad de dientes permanentes con sus principales causas de pérdida y factores sociodemográficos; los datos se recolectaron en el año 2016; se utilizó el programa SPSS (PASW Statistics 18) para el vaciado, análisis e interpretación de los resultados. Resultados: La mortalidad dental fue de 64.32% siendo la principal causa de extracción la caries dental (86.62%); el municipio de Ilobasco presentó mayor índice de pérdida por caries (90.63%). Conclusiones: Se determinó como principal causa de mortalidad dental la caries dental, seguida por la enfermedad periodontal. La población más afectada fue de 60 años o más; las mujeres presentaron mayor índice de prevalencia de pérdida y los hombres mayor índice de incidencia. Las personas con grado de escolaridad secundaria residentes en zona rural, con oficio o trabajo informal y de viviendas con piso de cemento son los usuarios que pierden más dientes. Las primeras molares inferiores fueron los dientes mayormente extraídos.

Objective: To determine the mortality of permanent teeth and its main causes in users treated in the Family Health Community Centers (FHCC) in the municipalities of Mizata, Ilobasco and San Pedro Masahuat, El Salvador, 2016. Methodology: It was evaluated a sample of 1,054 users of the Mizata, Ilobasco and Las Isletas FHCC located in the departments of La Libertad, Cabañas and La Paz respectively, with ages from 7 to more than 60 years old. It is a descriptive, observational and transversal study, that determined the mortality of permanent teeth with its main causes of loss and sociodemographic factors; data was collected in 2016; the SPSS program (PASW Statistic 18) was used to empty, analyze and interpret the results. Results: The dental mortality was of 64.32% being tooth decay the main cause of extraction (86.62%); the municipality of Ilobasco presented a higher rate of tooth loss due to caries (90.63%). Conclusions: Dental caries was the main cause of dental mortality, followed by periodontal disease. The most affected population was the 60 years or older group; women presented higher prevalence rate of dental loss and men higher incidence rate. People with secondary level of education residing in rural area, with an occupation or informal work and with houses with concrete floor, are the users who lose more teeth. The first permanent lower molars were the teeth mostly extracted.

Distinct localization and modulation of Cav1.2 and Cav1.3 L-type Ca2+ channels in mouse sinoatrial node.

Dysregulation of L-type Ca(2+) currents in sinoatrial nodal (SAN) cells causes cardiac arrhythmia. Both Ca(v)1.2 and Ca(v)1.3 channels mediate sinoatrial L-type currents. Whether these channels exhibit differences in modulation and localization, which could affect their contribution to pacemaking, is unknown. In this study, we characterized voltage-dependent facilitation (VDF) and subcellular localization of Ca(v)1.2 and Ca(v)1.3 channels in mouse SAN cells and determined how these properties of Ca(v)1.3 affect sinoatrial pacemaking in a mathematical model. Whole cell Ba(2+) currents were recorded from SAN cells from mice carrying a point mutation that renders Ca(v)1.2 channels relatively insensitive to dihydropyridine antagonists. The Ca(v)1.2-mediated current was isolated in the presence of nimodipine (1 µm), which was subtracted from the total current to yield the Ca(v)1.3 component. With strong depolarizations (+80 mV), Ca(v)1.2 underwent significantly stronger inactivation than Ca(v)1.3. VDF of Ca(v)1.3 was evident during recovery from inactivation at a time when Ca(v)1.2 remained inactivated. By immunofluorescence, Ca(v)1.3 colocalized with ryanodine receptors in sarcomeric structures while Ca(v)1.2 was largely restricted to the delimiting plasma membrane. Ca(v)1.3 VDF enhanced recovery of pacemaker activity after pauses and positively regulated pacemaking during slow heart rate in a numerical model of mouse SAN automaticity, including preferential coupling of Ca(v)1.3 to ryanodine receptor-mediated Ca(2+) release. We conclude that strong VDF and colocalization with ryanodine receptors in mouse SAN cells are unique properties that may underlie a specific role for Ca(v)1.3 in opposing abnormal slowing of heart rate.

Ca2+/calmodulin-dependent protein kinase II-based regulation of voltage-gated Na+ channel in cardiac disease.

BACKGROUND: Human gene variants affecting ion channel biophysical activity and/or membrane localization are linked to potentially fatal cardiac arrhythmias. However, the mechanism for many human arrhythmia variants remains undefined despite more than a decade of investigation. Posttranslational modulation of membrane proteins is essential for normal cardiac function. Importantly, aberrant myocyte signaling has been linked to defects in cardiac ion channel posttranslational modifications and disease. We recently identified a novel pathway for posttranslational regulation of the primary cardiac voltage-gated Na(+) channel (Na(v)1.5) by Ca(2+)/calmodulin-dependent protein kinase II (CaMKII). However, a role for this pathway in cardiac disease has not been evaluated. METHODS AND RESULTS: We evaluated the role of CaMKII-dependent phosphorylation in human genetic and acquired disease. We report an unexpected link between a short motif in the Na(v)1.5 DI-DII loop, recently shown to be critical for CaMKII-dependent phosphorylation, and Na(v)1.5 function in monogenic arrhythmia and common heart disease. Experiments in heterologous cells and primary ventricular cardiomyocytes demonstrate that the human arrhythmia susceptibility variants (A572D and Q573E) alter CaMKII-dependent regulation of Na(v)1.5, resulting in abnormal channel activity and cell excitability. In silico analysis reveals that these variants functionally mimic the phosphorylated channel, resulting in increased susceptibility to arrhythmia-triggering afterdepolarizations. Finally, we report that this same motif is aberrantly regulated in a large-animal model of acquired heart disease and in failing human myocardium. CONCLUSIONS: We identify the mechanism for 2 human arrhythmia variants that affect Na(v)1.5 channel activity through direct effects on channel posttranslational modification. We propose that the CaMKII phosphorylation motif in the Na(v)1.5 DI-DII cytoplasmic loop is a critical nodal point for proarrhythmic changes to Na(v)1.5 in congenital and acquired cardiac disease.

Importância atribuída aos conteúdos abordados da ficha de acompanhamento dos cuidados para a promoção da saúde da criança na consulta de puericultura por familiares de crianças menores de um ano, na Zona Leste de São Paulo / Importace attibuted to the content covered in a formulary of attendance for the child health promotion in consultation with childcare by parents of children under 1 year of UBS East Zone of São Paulo

Objetivos: caracterizar a ocorrência dos cuidados familiares a crianças menores de 1 ano, segundo a Ficha de acompanhamento dos cuidados para a promoção da saúde da criança e identificar a importância atribuída pelos familiares de crianças menores de 1 ano à inserção dos conteúdos da ficha nas consultas de puericultura. Método: estudo quantitativo, descritivo e exploratório, realizado em uma UBS na Zona Leste da cidade de São Paulo. Participaram do estudo 96 familiares de crianças menores de 1 ano pertencentes à amostra sorteada. Dados coletados por entrevistas, com instrumento baseado na Ficha de acompanhamento dos cuidados para a promoção da saúde da criança. Parte dos familiares respondeu a perguntas abertas adicionais, justificando suas respostas. Realizou-se análise descritiva dos dados mediante frequências absolutas e relativas. As respostas às perguntas abertas foram submetidas à análise temática de conteúdo, obtendo-se categorias empíricas. Resultados: como responsável, observou-se predominância de mães, a maioria era casada, tinha entre 20 e 29 anos e não exercia atividade remunerada, 86,5% tinham menos de 8 anos de estudo. A maioria tinha apenas um filho e uma gestação. Todas tinham realizado acompanhamento pré-natal, 96,9% das crianças ficavam no domicílio. A maioria das moradias era de alvenaria, o chefe da família é o pai para 67,7% dos entrevistados. A escolaridade do chefe apresenta-se mais elevada do que a das mães e todos os chefes exerciam atividade remunerada. Quase a totalidade dos familiares afirmou que a chegada da criança foi bem aceita pela família, e a maioria considerou importante incluir essa questão na consulta de saúde da criança. A maioria das crianças recebia o alimento recomendado.Quanto aos aspectos afetivos, 90% das respostas foram positivas em relação às questões do instrumento, sendo este o considerado mais importante na consulta de puericultura para 90,6% dos respondentes, 94,8% consideraram importante a realização cuidados de higiene diária, acima de 90% afirmaram que também consideram importante a inclusão desse tema na consulta, e quase todas reconhecem como importante para a criança ter um bom acompanhamento de saúde. A maioria das famílias consegue reconhecer quando a criança precisa de algum tratamento, leva a criança ao serviço de saúde e garante o tratamento proposto; a cobertura vacinal é de 99%; 86 responsáveis consideram importante o profissional realizar perguntas referentes ao tema saúde. Todos afirmam que aproveitam os momentos de cuidados para brincar, conversar com o bebê. Como justificativa, 21,4% relatam que criança que brinca cresce saudável. Mais de 90% conseguem manter o bebê fora de perigo. Todas as famílias conseguem proporcionar momentos agradáveis para a criança, oferecendo carinho, afeto, atividades estimulantes. Proporcionam rotina organizada e mantêm a criança em uma rede social segura. Sentem dificuldades em dar limites às crianças. Quase a totalidade das justificativas apontam para o entendimento pelo profissional como elemento norteador da conduta para o bom cuidado da criança. Conclusão: a maioria dos familiares realiza o cuidado, mesmo que alguns deles não sejam compreendidos como fundamentais para o desenvolvimento infantil. A maioria não tem o conhecimento dos benefícios causados pelo cuidado. Percebem a importância de serem realizados os cuidados propostos pela ficha de acompanhamento.

Objectives: to characterize the occurrence of the family care for children under one year, according to the Formulary of attendance for the child health promotion (Ficha de acompanhamento dos cuidados para promoção da saúde da criança) and identify the importance attached by parents of children younger than one year to the inclusion of the contents of the form in consultations of childcare. Method: quantitative, descriptive and exploratory study, held in a UBS situated in the East Zone of São Paulo city. The study included 96 families with children under one year. The informations were collected through interviews with an instrument based on the Formulary of attendance for the child health promotion. Part of the families answered additional open questions, justifying their answers. We conducted a descriptive analysis of the informations by absolute and relative frequencies. The answers to the open questions were submitted to thematic analysis of the content, obtaining empirical categories. Results: as responsibles, there is some predominance of mothers, most of them were married, and had between 20 and 29 years old, and were not wage earners, 86.5% had studied less than eight years. Most had only one son and a single pregnancy. All participants had undergone prenatal care. 96.9% of the children lived in a house. Most of the houses were built by masonry, the head of the family is the father to 67.7% of respondents. The schooling of the head of the family tends to be higher than the mothers and all heads of family were employed.Almost all of the relatives said that the arrival of the child was well accepted by the family, and most considered important to include this matter on the children consultations. Most of the children received the recommended food. About the affective aspects, 90% have positive answers to questions from the instrument, which is considered important for 90.6% of respondents. 94.8% realized daily hygiene care and more than 90% said they considered important to include this topic in the consultation, and almost all recognize as important for children to have good health monitoring. Most families can recognize when a child needs some treatment, take the child to the health service and ensures the proposed treatment. Vaccination is assured for 99%, 86 of the responsibles considered important that the professional this kind of information conducting questions. All participants say that make the most of the opportunity enjoy of care to play and talk to the baby. As justification, 21.4% reported that child who plays, grows healthy. More than 90% can keep the baby out of danger. All families can provide a nice time for children, offering love, affection and stimulating activities. They affirm to provide an organized routine, and keep the child in a safe social network. Some of them have difficulty on setting limits to the children. Almost all of the justifications understand that the knowledge of the professional makes difference for a good child care. Conclusion: the majority of the families accomplishes the care, even if some of them are not understood as fundamental to the child development. Most have no knowledge of the benefits of taking care. They realize the importance of the care proposed on the formulary of this study.

A ß(IV)-spectrin/CaMKII signaling complex is essential for membrane excitability in mice.

Ion channel function is fundamental to the existence of life. In metazoans, the coordinate activities of voltage-gated Na(+) channels underlie cellular excitability and control neuronal communication, cardiac excitation-contraction coupling, and skeletal muscle function. However, despite decades of research and linkage of Na(+) channel dysfunction with arrhythmia, epilepsy, and myotonia, little progress has been made toward understanding the fundamental processes that regulate this family of proteins. Here, we have identified ß(IV)-spectrin as a multifunctional regulatory platform for Na(+) channels in mice. We found that ß(IV)-spectrin targeted critical structural and regulatory proteins to excitable membranes in the heart and brain. Animal models harboring mutant ß(IV)-spectrin alleles displayed aberrant cellular excitability and whole animal physiology. Moreover, we identified a regulatory mechanism for Na(+) channels, via direct phosphorylation by ß(IV)-spectrin-targeted calcium/calmodulin-dependent kinase II (CaMKII). Collectively, our data define an unexpected but indispensable molecular platform that determines membrane excitability in the mouse heart and brain.