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.

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.