Incidence and risk factors for acute kidney injury associated to surgery for congenital heart disease / Incidencia y factores de riesgo de falla renal aguda asociados a la corrección quirúrgica de cardiopatías congénitas

Abstract Background: Acute kidney injury (AKI) occurs frequently after cardiac surgery for congenital heart disease and it has a great impact on patient´s prognosis. Objective: The aims of this study were to determine the incidence and risk factors for AKI in children undergoing cardiac surgery and its impact on mortality, duration of mechanical ventilation, ICU and total hospital length of stay. Methods: This was a historical cohort study of children 0 - 18 years of age who underwent cardiac surgery between 2012 and 2014. We used the Risk Adjustment for Congenital Heart Surgery-1 (RACHS) scale to evaluate risk of the surgery. AKI was defined in accordance to the Acute Kidney Injury Network (AKIN) criteria. Results: A total of 485 patients were included. AKI occurred in 89 (18.3%) patients during the study period. Risk factors for AKI were age < 2 years, cardiopulmonary bypass (CPB) time > 120 min and RACHS score > 3. AKI increased the mortality risk (OR: 5.82, 95% CI: 2.24-15.10) and the time in mechanical ventilation and ICU stay from 1 to 5 days and 6 to 12 days, respectively. Conclusions: Risk factors for AKI are younger age, higher RACHS score, and time of CPB greater than 120 minutes. AKI increases mortality, days on MV and ICU stay. In the present study AKIN scale allowed us to classify the severity of AKI and it correlated with prognosis after cardiac surgery.

Resumen Introducción: La insuficiencia renal aguda (IRA) ocurre frecuentemente después de las cirugías de cardiopatías congénitas e impacta el pronóstico del paciente. Objetivo: Determinar incidencia y factores de riesgo para IRA en niños sometidos a cirugía de cardiopatía congénita y su impacto en mortalidad, duración de ventilación mecánica, tiempo de hospitalización total y en Cuidados Intensivos (UCI). Métodos: Cohorte histórica de niños entre cero y 18 años sometidos a cirugía cardiaca entre 2012 y 2014. El riesgo de la cirugía fue calculado mediante la escala Risk Adjustment for Congenital Heart Surgery-1 (RACHS). La falla renal fue establecida de acuerdo a la escala de Acute Kidney Injury Network (AKIN). Resultados: Se incluyeron 485 pacientes. 89 pacientes (18.3%) desarrollaron IRA durante el postquirúrgico. Los factores de riesgo para IRA fueron edad < 2 años, tiempo de bypass cardiopulmonar > 120 minutos y escala de RACHS > 3. La ocurrencia de IRA aumento el tiempo de ventilación mecánica de 1 a 5 días, la estancia en UCI de 6 a 12 días y el riesgo de mortalidad (OR: 5.82, 95% IC: 2.24-15.10). Conclusiones: Los factores de riesgo para IRA fueron menor edad, mayor escala de RACHS y de tiempo de bypass. La ocurrencia de IRA aumentó la mortalidad, días en ventilación mecánica y estancia en UCI. En el presente estudio la escala de AKIN permitió clasificar la severidad de AKI y se correlaciono con el pronóstico después de cirugía de cardiopatía congénita.

Treinamento cardiorrespiratório e força dos músculos ventilatórios de idosas: ensaio controlado randomizado duplo cego / Cardiorespiratory training and ventilatory muscle strength in elderly women: double blind randomized controlled trial

A dinapenia da musculatura ventilatória relaciona-se com as complicações respiratórias pós-operatórias e aos óbitos de idosos submetidos a procedimentos cirúrgicos de etiologia toracoabdominal. Objetivo: Verificar o efeito crônico do treinamento cardiorrespiratório sobre a força dos músculos ventilatórios de idosas. Métodos: Amostra (n = 24) randomizada nos grupos: controle (n = 8), treinamento ventilatório (n = 7) e treinamento cardiorrespiratório (n = 9). O desfecho primário (PImáx e PEmáx) foi medido por um manovacuômetro digital MDV®300 (MDI/Brasil). Rodou-se a estatística descritiva (média e desvio padrão), seguida de uma ANOVA 3x3 e o testes post-hoc de Bonferroni, todos com significância de (P ≤ 0,05). Resultados: O teste Post Hoc atestou diferença estatisticamente significativa do grupo treinamento cardiorrespiratório no reteste 1 e 2 quando comparados ao teste inicial (PImáx; P = 0,000001 e P = 0,0000001 respectivamente) e (PEmáx; P = 0,000000 em ambas as comparações). Conclusão: O treinamento cardiorrespiratório proposto foi capaz de aumentar significativamente a PImáx, PEmáx, resistência aeróbica e a força de membros inferiores das participantes deste ECR. (AU)

Predictive equations for ventilatory muscle strength in the Brazilian population: a systematic review / Equações preditivas da força muscular ventilatória na população brasileira: uma revisão sistemática / Ecuaciones predictivas de la fuerza muscular respiratoria en la población brasileña: una revisión sistemática

ABSTRACT Maximal inspiratory and expiratory pressures (MIP and MEP) assess the strength index of the respiratory muscles. These measures are relevant to assess respiratory muscle strength and for clinical monitoring. This study evaluates papers that suggest predictive equations of MIP and MEP for the Brazilian population. We included studies that established prediction equations for MIP and MEP for the healthy Brazilian population, aged from 4 to 90 years old, both men and women and that had the maximum respiratory pressures measured in a sitting position. A search was carried out in March 2020 on MEDLINE, LILACS, Cochrane, SciELO, CINAHL, Web of Science, and SCOPUS databases, without date or language filters. The descriptors used were "muscle strength," "equations," "predictive respiratory muscles" and their respective synonyms. Out of the 3,920 studies found in databases, 963 were duplicates, 2,779 were excluded, 178 had their full texts analyzed, and only 9 met the inclusion criteria. The predictive equations of ventilatory muscle strength analyzed in this review used age, weight, and stature as variables. However, the studies showed methodological weaknesses, such as lack of cross-validation of the equation, exclusion of outliers, and lack of familiarization of MIP and MEP.

RESUMO As pressões respiratórias máximas (PImáx e PEmáx) avaliam o índice de força dos músculos respiratórios. Essas medidas são relevantes para a avaliação da força muscular respiratória e para o monitoramento clínico. O objetivo deste estudo foi avaliar os artigos que sugerem equações preditivas de PImáx e PEmáx para a população brasileira. Foram incluídos estudos que estabeleceram equações de predição para PImáx e PEmáx da população brasileira saudável, com idades entre 4 e 90 anos e de ambos os sexos, que mediam as pressões respiratórias máximas na posição sentada. Uma pesquisa foi realizada, em março de 2020, nas bases de dados MEDLINE, LILACS, Cochrane, SciELO, CINAHL, Web of Science e SCOPUS, sem filtros de tempo ou idioma. Os descritores utilizados foram "força muscular", "equações" e "músculos respiratórios preditivos", com seus respectivos sinônimos. Dos 3.920 estudos encontrados nas bases de dados, 963 eram duplicados e 2.779 foram excluídos, 178 tiveram seus textos analisados integralmente e apenas 9 atendiam aos critérios de inclusão. As variáveis utilizadas nas equações preditivas de força muscular ventilatória analisadas nesta revisão foram: idade, peso e estatura. No entanto, os estudos mostraram fragilidades metodológicas, como falta de validação cruzada da equação, exclusão de outliers e familiarização do PImáx e PEmáx.

RESUMEN Las presiones inspiratoria y espiratoria máximas (PImáx y PEmáx) evalúan el índice de fuerza muscular respiratoria. Estas medidas son importantes en la evaluación de la fuerza muscular respiratoria y el seguimiento clínico. El objetivo de este estudio fue evaluar los artículos proponen ecuaciones predictivas para PImáx y PEmáx a la población brasileña. Se incluyeron estudios que establecieron ecuaciones predictivas para PImáx y PEmáx a la población brasileña sana de ambos sexos, de entre 4 y 90 años de edad, y que miden las presiones respiratorias máximas en posición sentada. Se realizó, en marzo de 2020, una búsqueda en las bases de datos MEDLINE, LILACS, Cochrane, SciELO, CINAHL, Web of Science y SCOPUS, sin año de publicación específico ni idioma. Los descriptores utilizados fueron "fuerza muscular", "ecuaciones" y "músculos respiratorios predictivos" y sus respectivos sinónimos. De los 3.920 estudios encontrados, 963 eran duplicados y se excluyeron 2.779, así se analizaron 178 textos en su totalidad y solo 9 cumplieron con los criterios de inclusión. Las variables edad, peso y talla fueron las que habían sido utilizadas en las ecuaciones predictivas de fuerza muscular respiratoria analizadas por esta revisión. Sin embargo, los estudios apuntaron limitaciones metodológicas, como falta de validación cruzada de la ecuación, exclusión de outliers y familiaridad de la PImáx y PEmáx.

Aspectos relacionados com a positividade para a esquistossomose: estudo transversal em área de baixa prevalência em Alagoas, 2020 / Aspectos relacionados con la positividad para la esquistosomiasis: un estudio transversal en un área de baja prevalencia en Alagoas, Brasil, 2020 / Aspects related to positivity for schistosomiasis: a cross-sectional study in a low prevalence area in Alagoas, Brazil, 2020

Objetivo: Analisar aspectos relacionados com a positividade para esquistossomose em área de baixa prevalência, no Brasil. Métodos: Estudo transversal, realizado no primeiro semestre de 2020, quando foram analisadas a proporção de positividade, em função do número de lâminas de Kato-Katz, o desempenho diagnóstico do teste e a estimação da positividade a partir dos dados do Sistema de Informação do Programa de Vigilância e Controle da Esquistossomose (SISPCE). Resultados: Foram analisadas 2.088 lâminas de 348 indivíduos, sendo a proporção de positividade de 11,8%, 26,7% e 31,0% para 1, 4 e 6 lâminas analisadas, respectivamente. Houve concordância excelente (índice Kappa = 0,91) na comparação entre as leituras de 4 e 6 lâminas. Foi estimada subnotificação de 2,1 vezes nos dados do SISPCE. Conclusão: Ampliar o número de lâminas aumentou a positividade do Kato-Katz, o que pode contribuir para maximizar o controle da doença enquanto problema de Saúde Pública.

Objetivo: Analizar aspectos relacionados con la positividad para esquistosomiasis en área de baja prevalencia en Brasil. Métodos: Estudio transversal, realizado en el primer semestre de 2020, donde se analizó la proporción de positividad según el número de portaobjetos de Kato-Katz, el rendimiento diagnóstico de la prueba y la creación de un factor de estimación de positividad a partir de los datos del Sistema de Información del Programa de Vigilancia y Control de la Esquistosomiasis (SISPCE). Resultados: Se analizaron 2.088 láminas de 348 individuos, con proporción de positividad del 11,8%, 26,7% y 31,0% para 1, 4 y 6 láminas analizadas, respectivamente. Hubo una excelente concordancia (Kappa = 0,91) en la comparación entre la lectura de 4 y 6 láminas. Se estimó un subregistro de 2,1 veces en los datos del SISPCE. Conclusión: Aumentar el número de muestras aumentó la positividad de Kato-Katz, lo que puede contribuir a maximizar el control de la enfermedad como problema de Salud Pública.

Objective: To analyze aspects related to schistosomiasis positivity in an area of low prevalence in Brazil. Methods: This was a cross-sectional study, carried out in the first half of 2020, where we analyzed the proportion of positivity, according to the number of Kato-Katz slides, the diagnostic performance of the test and positivity estimates based on data from the Schistosomiasis Surveillance and Control Program Information System (SISPCE). Results: 2,088 slides from 348 individuals were analyzed, with proportion of positivity of 11.8%, 26.7% and 31.0% for 1, 4 and 6 slides analyzed, respectively. There was excellent agreement (Kappa = 0.91) between the readings of 4 and 6 slides. The SISPCE data was estimated to be underreported by up to 2.1 times. Conclusion: Increasing the number of slides increased Kato-Katz positivity, which can contribute to maximizing the control of the disease as a Public Health problem.

Lipschütz ulcer and Epstein-Barr virus infection: a case report / Úlcera de Lipschütz e infecção pelo vírus Epstein-Barr: um relato de caso

Aims: Lipschütz ulcer (LU), also known as acute vulvar ulcer, is a rare cause of vulvar ulcerations of nonvenereal origin. Our aim is to alert about this manifestation of the disease and to prevent unnecessary treatment. Case description: we present a 15 years old female, without relevant family and past history, admitted in the emergency room with a painful vulvar ulcer, preceded by five days of fever and sore throat. On physical examination, she had enlarged, and erythematous tonsils and bilateral anterior cervical lymphadenopathy and the genital examination revealed vulvar oedema and a deep ulcer with necrotic plaques in labium minus. The exclusion of transmitted sexual disease led to a diagnosis of Lipschütz ulcer. She started symptomatic treatment, oral antibiotic and corticoid therapy. She was discharged from the hospital after 6 days of admission and returned to a consult one month later when it was observed an almost complete resolution of the lesions. No recurrences occurred until 3 months. Conclusion: LU is a misdiagnosed pathology, probably because doctors, in general, are not familiarized with that, and since the diagnosis is made by exclusion. Infectious, such as Epstein-Barr Virus infections, are proposed etiologies.

Objetivo: a úlcera de Lipschütz, ou úlcera vulvar aguda, é uma causa rara de ulceração de origem não venérea. O nosso objetivo é alertar para essa manifestação da doença e prevenir tratamentos desnecessários. Descrição: adolescente, sexo feminino, 15 anos, sem história pessoal ou antecedentes familiares de relevo. Recorreu ao Serviço de Urgência por febre e odinofagia, com cinco dias de evolução, associada a uma úlcera vulvar dolorosa, que surgiu no próprio dia. O exame clínico revelou amígdalas hipertrofiadas e eritematosas, linfadenopatia cervical anterior, e o exame ginecológico apresentou edema da vulva e uma úlcera profunda, com placas necróticas nos lábios menores. A exclusão de uma doença sexualmente transmissível levou ao diagnóstico de úlcera de Lipschütz. Ficou internada no Serviço de Pediatria e iniciou tratamento sintomático, antibioterapia por sobreinfeção da úlcera e corticoterapia tópica. Teve alta após seis dias de hospitalização e foi reavaliada em consulta um mês depois, com resolução completa do caso. Não apresentou recorrência da úlcera até aos três meses seguintes. Conclusão: a úlcera de Lipschütz é uma doença subdiagnosticada, muito provavelmente porque os médicos não estão familiarizados com ela e por ser um diagnóstico de exclusão. A infeção pelo vírus Epstein-Barr é uma das etiologias propostas.

Use of Phanerochaete Chrysosporium in a Semibatch Reactor for Removal of Indigo Carmine from Synthetic Textile Wastewater

Abstract The textile industry demonstrates a polluting potential from the planting of cotton to the release of wastewater. The presence of dyes in water bodies decreases the passage of sun rays and directly affects the photosynthetic organisms and the ecosystem. Fungi have potential in the treatment of wastewater containing dyes with complex organic structures due to enzymes that they produce. This study evaluated the use of Phanerochaete chrisosporium in the treatment of synthetic effluent from textile industry containing indigo carmine (20 mg/L). The fungus was immobilized in a semibatch reactor. Glucose was the cosubstrate employed in the experiment and it was used in the system at 1g/L at the beginning of the process and 0.5 g /L after 24 hours of reaction. Average dye removal was 84±10% and chemical oxygen demand removal was 79±14%. For nitrogen compounds, the removal efficiencies were 87±11%, 81±11% and 91±9% for ammonia, nitrite and nitrate, respectively. The pH of the medium remained in the acidic range (2.57 to 5.00) throughout the process, with the lowest values recorded in the effluent of each cycle, justified by the release of organic acids from fungi metabolism. There was contamination of the medium by bacteria (710,000 CFU/mL), but the colonies count showed a predominance of fungi (1,365,000 CFU/mL). With the use of the semibatch system after reading of glucose it was observed that the efficiency of dye removal evolved from 72±17% to 84±10%, producing a final effluent with 3.35±1.99 mg/L of indigo, which proves that treatment configuration analyzed is satisfactory for dye removal.

Design, synthesis, and evaluation of Bothrops venom serine protease peptidic inhibitors

In Central and South America, snakebite envenomation is mainly caused by Bothrops spp. snakes, whose venoms feature significant biochemical richness, including serine proteases. The available bothropic antivenoms are efficient in avoiding fatalities, but do not completely neutralize venom serine proteases, which are co-responsible for some disorders observed during envenomation. Methods: In order to search for tools to improve the antivenom's, 6-mer peptides were designed based on a specific substrate for Bothrops jararaca venom serine proteases, and then synthesized, with the intention to selectively inhibit these enzymes. Results: Using batroxobin as a snake venom serine protease model, two structurally similar inhibitor peptides were identified. When tested on B. jararaca venom, one of the new inhibitors displayed a good potential to inhibit the activity of the venom serine proteases. These inhibitors do not affect human serine proteases as human factor Xa and thrombin, due to their selectivity. Conclusion: Our study identified two small peptides able to inhibit bothropic serine proteases, but not human ones, can be used as tools to enhance knowledge of the venom composition and function. Moreover, one promising peptide (pepC) was identified that can be explored in the search for improving Bothrops spp. envenomation treatment.(AU)

New epidemiological profile of schistosomiasis from an area of low prevalence in Brazil

Abstract INTRODUCTION: Schistosomiasis, caused by infection from Schistosoma mansoni, is a disease that represents an important public health problem for Brazil, especially for states in the Northeast region. Thus, the aim of this study is to present a new epidemiological profile for the disease in a municipality with low prevalence in the state of Alagoas, Brazil. METHODS: A cross-sectional study was conducted through a coproparasitological and malacological survey. A structured questionnaire was applied to the study participants to survey possible risk factors and a spatial analysis (kernel density) was used to measure the risk of infection. RESULTS: Of the 347 participants, 106 (30.5%) were infected by Schistosoma mansoni, most of them from the urban area of the municipality (68.9%; 73/106). A 3-fold risk of infection was found for individuals living in the urban area and a risk of 2.15 times for self-declared farmers. Biomphalaria glabrata and B. straminea were the species found in the municipality, but no animals were diagnosed as infected by the parasite. Spatial analysis showed a random distribution of vectors and human cases of the disease, and the formation of two clusters of human cases in the urban area was seen. CONCLUSIONS: A new epidemiological profile for schistosomiasis from S. mansoni infection was presented in a municipality of low endemicity: a high proportion of positive individuals in the urban area; presence of snails without positive diagnosis for S. mansoni infection; random distribution of vectors and human cases; and absence of association between classical risk factors and human infection.

Osteogénesis imperfecta: hallazgos clínicos y epidemiológicos en una serie de pacientes pediátricos / Osteogenesis imperfect: clinical and epidemiological findings in a series of pediatric patients

Resumen Introducción: La osteogénesis imperfecta (OI) es el trastorno óseo hereditario más común, con una incidencia de 1 en 10,000 a 25,000 nacimientos. Este trastorno está causado principalmente por mutaciones de los genes que codifican las cadenas del colágeno tipo I. En la mayoría de los casos, se presenta un patrón de herencia autosómico dominante. La OI se caracteriza principalmente por un aumento en la fragilidad ósea que da lugar a fracturas frecuentes que producen dolor, deformidad y discapacidad asociada con otras alteraciones. El objetivo del estudio fue exponer las características clínicas y epidemiológicas de una serie de pacientes pediátricos con diagnóstico de OI evaluados en la Universidad de Los Andes. Métodos: El presente trabajo consiste en el análisis de una serie de 37 casos pediátricos con diagnóstico de OI, de acuerdo a la clasificación clínica y radiológica de Sillence, evaluados en la consulta de la Unidad de Genética Médica de la Universidad de Los Andes, entre enero de 2006 y diciembre de 2018. Resultados: La OI tipo I fue la de presentación más frecuente, con 31 pacientes (83.78%). El fémur fue el hueso más afectado de manera conjunta. Las escleras azules fueron el hallazgo adicional más frecuente, en 32 pacientes (86.49%). Conclusiones: La OI representa el principal motivo de consulta por alteraciones en el sistema esquelético en la Unidad de Genética Médica de la Universidad de Los Andes. Ante la amplia forma clínica de presentación, la evaluación debe ser individual e interdisciplinaria. A través de un estudio más profundo se podrá brindar el oportuno asesoramiento genético familiar.

Abstract Background: Osteogenesis imperfecta (OI) is the most common hereditary bone disorder with an incidence of one in 10,000-25,000 births. It is caused mainly by mutations in the genes that code for Type I collagen chains. In most cases, it shows an autosomal dominant inheritance pattern. OI is characterized by an increase in bone fragility that leads to frequent fractures, which cause pain, deformity and disability associated with other alterations. The objective of this study was to present the clinical and epidemiological characteristics of a series of pediatric patients diagnosed with OI evaluated at the University of Los Andes. Methods: A series of 37 pediatric cases with diagnosis of OI according to the clinical and radiological classification of sillence is analyzed, which were evaluated in the medical genetics unit of the University of Los Andes consultation between January 2006 and December 2018. Results: Type I was the most frequent OI type, with 31 patients (83.78%). Additionally, the femur was the most affected bone. Blue scleras were the most frequent additional finding in 32 patients (86.49%). Conclusions: OI represents the main reason for consultation of alterations in the skeletal system in the medical genetics unit of the University of Los Andes. Given the broad clinical presentation, the evaluation must be individual and interdisciplinary. Further study will provide timely family genetic counseling.

Cateterização gástrica em recém-nascidos prematuros: análise de prevalência das técnicas de mensuração / Gastric tube insertion in preterm infants: prevalence analysis of measurement techniques / Cateterización gástrica en neonatos prematuros: análisis de prevalencia de las técnicas de medición

Objetivo: identificar a prevalência das técnicas de mensuração para inserção de cateter gástrico em recém-nascidos prematuros utilizadas pela equipe de enfermagem da unidade de terapia intensiva neonatal. Método: trata-se de uma pesquisa de corte transversal, realizada entre maio e agosto de 2018, em um hospital universitário da cidade do Rio de Janeiro, que contou com a participação de 52 profissionais, e a coleta de dados foi efetuada através do autopreenchimento de questionários pelos participantes do estudo. Foi utilizada estatística descritiva para a análise de dados. O estudo passou por aprovação de Comitê de Ética em Pesquisa. Resultados: foram encontradas seis técnicas distintas, que variaram de acordo com a via de inserção, oral e nasal. Metade delas não foi descrita na literatura. Conclusão: as técnicas mais prevalentes foram CEX (comissura labial-orelhaxifoide), NEX (nariz-orelha-xifoide) e ENX (orelha-nariz-xifoide), no entanto nenhuma delas foi validada para neonatologia, devido à escassez de pesquisas voltadas para os recém-nascidos

Objective: to identify the prevalence of measurement techniques used by the neonatal intensive care unit nursing team for gastric tube insertion in preterm newborns. Method: in this cross-sectional study, carried out between May and August 2018 at a university hospital in Rio de Janeiro City, the participants were 52 health professionals. Data were collected by selfcompleted questionnaire and analyzed using descriptive statistics. The study was approved by the research ethics committee. Results: six different techniques were found, which varied by route of insertion (oral or nasal). Half of these have not been described in the literature. Conclusion: the most prevalent techniques were CEX (labial commissure-earlobe-xiphoid), NEX (nose-earlobe-xiphoid) and ENX (earlobe-nose-xiphoid). However, none has been validated for neonatology due to the lack of research directed to newborns.

Objetivo: identificar la prevalencia de las técnicas de medición para inserción de catéter gástrico en neonatos prematuros utilizadas por el equipo de enfermería de la unidad de terapia intensiva neonatal. Método: se trata de una investigación de corte transversal, realizada entre mayo y agosto de 2018, en un hospital universitario de la ciudad de Río de Janeiro, que contó con la participación de 52 profesionales. La recolección de datos se efectuó a través del autollenado de cuestionarios por los participantes del estudio. Se utilizó estadística descriptiva para el análisis de datos. El estudio pasó por la aprobación del Comité de Ética en Investigación. Resultados: se encontraron seis técnicas distintas, que variaron de acuerdo con la vía de inserción, oral y nasal. La mitad de ellas no se encuentra en la literatura médica. Conclusión: las técnicas más prevalentes fueron CEX (comisura labial-oreja-xifoides), NEX (nariz-oreja-xifoides) y ENX (oreja-nariz-xifoides), sin embargo ninguna de ellas fue validada para neonatología, debido a la escasez de investigaciones volcadas hacia los neonatos.

Mosaicismo de trisomía 13 / Trisomy 13 mosaicism

Resumen Introducción: La trisomía 13 es una alteración cromosómica con una incidencia de 1 en 10,000 a 20,000 nacimientos. Puede ocurrir de forma completa, parcial o en mosaicismo. Este último caso ocurre cuando, en un individuo, un porcentaje de células son trisómicas para el cromosoma 13 mientras que el resto son euploides, y corresponde solamente al 5% de todos los casos. Los pacientes que padecen trisomía 13 presentan una expresividad variable, que va desde malformaciones graves con muerte temprana (fenotipo similar a la forma completa y más frecuente) hasta un desarrollo normal y pocos hallazgos dismórficos. Casos clínicos: Se presentan los hallazgos clínicos y citogenéticos de dos casos nuevos de mosaicismo de trisomía 13. Conclusiones: Se resalta la importancia del diagnóstico prenatal, los hallazgos clínicos y la evaluación médica interdisciplinaria, así como un asesoramiento genético oportuno.

Abstract Background: Trisomy 13 is a chromosomal alteration with an incidence of 1 in 10,000 to 20,000 births. It can occur completely, partially or in mosaicism; the latter occurs when a percentage of cells are trisomic for chromosome 13, while the rest are euploid in an individual and corresponds to only 5% of all cases. Patients with trisomy 13 present a wide variable expressivity, ranging from severe malformations with early death (phenotype similar to the complete form and more frequent), to normal development and few dysmorphic findings. Case reports: The clinical and cytogenetic findings of two new cases of trisomy 13 mosaicism are described. Conclusions: The importance of prenatal diagnosis, clinical findings, and interdisciplinary medical evaluation is highlighted, as well as an appropriate genetic counseling.

Síndrome de Wolf-Hirschhorn: Descripción de cinco casos caracterizados por microarrays de polimorfismos de nucleótido único / Wolf-Hirschhorn syndrome: Description of five cases characterized by means of single nucleotide polymorphism microarrays

El síndrome de Wolf-Hirschhorn es una entidad polimalformativa debida a la microdeleción en la región distal del brazo corto del cromosoma 4 (4p16.3), el cual produce una serie de manifestaciones clínicas, que pueden variar dependiendo del tipo y tamaño del defecto genético en este síndrome de genes contiguos. Se presentan cinco pacientes, tres de ellos de sexo femenino, todos con los hallazgos clínicos primordiales, con rasgo facial característico de "apariencia en casco de guerrero griego", retraso en el crecimiento y del desarrollo psicomotor. Además de la deleción parcial en la región distal del brazo corto del cromosoma 4, en dos pacientes, se encontraron alteraciones genéticas adicionales, mediante el uso de microarrays de polimorfismos de nucleótido único. Se resaltan las características clínicas del síndrome de Wolf-Hirschhorn con la finalidad de orientar el diagnóstico, brindar una atención médica interdisciplinaria y, a través de su confirmación, brindar un adecuado asesoramiento genético familiar.

Wolf-Hirschhorn syndrome is a polymalformative entity due to the microdeletion in the distal region of the short arm of chromosome 4 (4p16.3), which produces a series of clinical manifestations that can vary depending on the type and size of the genetic defect in this contiguous gene syndrome. Five patients are presented, three of them female, all with the primary clinical findings, characterized by "Greek warrior helmet appearance" facial feature, growth retardation and psychomotor development delay. In addition to the partial deletion in the distal region of the short arm of chromosome 4, two additional genetic alterations were found in two patients, through the use of single nucleotide polymorphism arrays. The clinical characteristics of Wolf-Hirschhorn syndrome are highlighted in order to guide the diagnosis, provide interdisciplinary medical care and, through its confirmation, provide adequate family genetic counseling.

Hallazgos clínicos, bioquímicos y moleculares de la acidemia propiónica / Clinical, biochemical and molecular findings of propionic acidemia

La acidemia propiónica es un trastorno infrecuente con patrón de herencia autosómico recesivo causado por la deficiencia de la enzima mitocondrial propionil-CoA carboxilasa, que convierte el propionil-CoA a D-metilmalonil-CoA. Se expone el caso de un recién nacido masculino con signos de dificultad respiratoria, vómitos y cansancio durante la alimentación. Presentó acidosis metabólica, cuerpos cetónicos en el suero y la orina positivos, hiperamonemia, anemia, trombocitopenia e hipoproteinemia. El estudio bioquímico por cromatografía de gases acoplada a espectrometría de masas en la muestra de orina fue sugestivo de acidemia propiónica. El estudio molecular en el gen PCCA encontró las mutaciones c.893A>G (p.K298R) en el padre y c.937C>T (p.R313X) en la madre. Existe la necesidad de establecer el diagnóstico de esta entidad infrecuente para implementar las medidas terapéuticas disponibles y aportar el oportuno asesoramiento genético.

Propionic acidemia is an infrequent disorder with an autosomal recessive inheritance pattern caused by the deficiency of the mitochondrial enzyme propionyl-CoA carboxylase that converts propionyl-CoA to D-methylmalonyl-CoA. We present the case of a male newborn who showed signs of respiratory distress, vomiting and tiredness during feeding. He presented metabolic acidosis, positive serum and urine ketone bodies, hyperammonemia, anemia, thrombocytopenia and hypoproteinemia. The biochemical study by gas chromatography coupled to mass spectrometry in a urine sample was suggestive of propionic acidemia. The molecular study in the PCCA gene found the mutations c.893A>G (p.K298R) in the father and c.937C> T (p.R313X) in the mother. There is a need to establish the diagnosis of this infrequent entity to implement the therapeutic measures available and provide the appropriate genetic counseling.

Comparative evaluation of the quality of Papanicolaou staining at different intervals of fixation times using 96% ethyl alcohol / Avaliação comparativa da qualidade da coloração de Papanicolaou em diferentes tempos de fixação em álcool etílico a 96%

ABSTRACT Introduction: Fixation of cytological smears consists of immediate immersion in appropriate fixative, in order to preserve cellular morphological characteristics, it is essential for the microscopic examination and diagnostic interpretation. Objective: To evaluate the influence of fixation times on the morphological and staining characteristics of samples fixed in ethanol and stained by the Papanicolaou method. Method: Experimental, quantitative and qualitative research was carried out on 99 samples of the jugal mucosa scrapings from 33 participants, fixed in 96% ethyl alcohol in three different times. Group A: 15 minutes; group B: 30 minutes; group C: seven days. The quality of staining was categorized in Optimal, Good, Regular and Poor, with subsequent recategorization at optimal and non-optimal. To verify the association among the groups and the categories, Fisher's exact test was performed, with significance level of 0.05. Results: From the 99 stained slides, 19 were discarded due to acellularity, remaining 80 slides. From these, 28 in group A, 26 in group B and 26 in group C were evaluated. In Group A, optimal quality was found in 60.7% (n = 17), good in 28.6% (n = 8), regular in 10.7% (n = 3) and poor in 0% (n = 0). In group B optimal was found in 61.5% (n = 16), good in 30.8% (n = 8), regular in 7.7% (n = 2) and poor in 0% (n = 0). In group C, optimal was found in 92.3% (n = 24), good in 7.7% (n = 2), regular in 0% (n = 0) and poor in 0% (n = 0). In the three groups, there was no representation of the Poor category. Conclusion: The results suggest that there is a significant difference in the staining quality (p-value = 0.01) according to the fixation time.

RESUMEN Introducción: La fijación de extensiones citológicas consiste en la inmersión inmediata en fijador adecuado para preservar la morfología celular, siendo esencial para el análisis microscópico y la interpretación diagnóstica. Objetivo: Evaluar la influencia de los tiempos de fijación en las características morfológicasy de tinción de muestras fijadas con metanoly tenidas con el método de Papanicolaou. Método: Se realizó una investigación experimental, cuantitativa y cualitativa de 99 muestras de raspado de la mucosa yugal de 33 participantes, fijadas con etanol al 96% en tres tiempos distintos. Grupo A: 15 minutos; grupo B: 30 minutos; grupo C: 7 días. La calidad de la tinción fue categorizada en óptima, buena, regular y mala, con posterior reclasificación en óptima y no óptima. Para determinar la asociación entre los grupos y las categorias, se realizó la prueba exacta de Fisher, con un nivel de significación del 0,05. Resultado: De las 99 muestras tenidas, 19 fueron desechadas por acelularidad, quedando 80 para ser analizadas. De estas muestras, 28 fueron evaluadas en el grupo A, 26 en el grupo B y 26 en el grupo C. En el grupo A, hemos encontrado calidad óptima - 60,7% (n =17); buena - 28,6% (n = 8); regular -10,7% (n = 3) y mala - 0% (n = 0). En el grupo B, óptima - 61,5% (n = 16); buena - 30,8% (n = 8); regular - 7,7% (n = 2); y mala - 0% (n = 0). En el grupo C, óptima - 92,3% (n = 24); buena - 7,7% (n = 2); regular - 0% (n = 0) y mala - 0% (n = 0). En los tres grupos no hubo representación en la categoria mala. Conclusión: Los resultados sugieren que hay diferencia significativa en la calidad de la tinción (p = 0,01) de acuerdo con el tiempo de fijación.

RESUMO Introdução: A fixação dos esfregaços citológicos consiste na imersão imediata em fixador adequado para preservar as características morfológicas celulares, sendo essencial para a análise microscópica e a interpretação diagnóstica. Objetivo: Avaliar a influência dos tempos de fixação nas características morfológicas e tintoriais de amostras fixadas em álcool etílico e coradas pelo método de Papanicolaou. Método: Realizou-se pesquisa experimental, quantitativa e qualitativa de 99 amostras de raspado da mucosa jugal de 33participantes, fixadas em álcool etílico 96% em três tempos diferentes. Grupo A: 15 minutos; grupo B: 30 minutos; grupo C: sete dias. A qualidade da coloração foi categorizada em ótima, boa, regular e ruim, com posterior recategorização em ótimo e não ótimo. Para verificar a associação entre os grupos e as categorias, realizou-se teste exato de Fisher, com nível de significância de 0,05. Resultado: Das 99 lâminas coradas, 19 foram desprezadas por acelularidade, restando 80 lâminas para serem analisadas. Destas, foram avaliadas 28 no grupo A, 26 no grupo B e 26 no grupo C. No grupo A, foi encontrada qualidade ótima - 60,7% (n = 17); boa - 28,6% (n = 8); regular - 10,7% (n = 3) e ruim - 0% (n = 0). No grupo B, ótima - 61,5% (n = 16); boa - 30,8% (n = 8); regular - 7,7% (n = 2); e ruim - 0% (n = 0). E no Grupo C, ótima - 92,3% (n = 24); boa - 7,7% (n = 2); regular - 0% (n = 0); e ruim - 0% (n = 0). Nos três grupos não houve representação na categoria ruim. Conclusão: Os resultados sugerem que há diferença significativa na qualidade da coloração (p = 0,01) de acordo com o tempo de fixação.

The effects of hydrogymnastics on functional autonomy in elderly women: a meta-analysis

Aim: To Verify the effects of hydrogymnastics on functional autonomy in elderly women. Method: In November 2018, a systematic review of the literature was performed in the databases MEDLINE, SciELO, LILACS, PEDro, Cochrane, Web of Science, SPORTDiscus, SCOPUS e CINAHL. Two independent researchers selected randomized clinical trials, which evaluated the effects of hydrogymnastics over healthy elderly women performance on functional tests performance on functional tests. From each study they selected the number of participants in both experimental and control groups (EG and CG), age, intervention protocol, mean and standard deviation before and after the intervention for the following variables: legs and biceps muscular strength, posterior muscle chain extensibility, and agility - all of which compose the functional autonomy on Rikli and Jones test. We analyzed the methodological quality and the risk of bias through the Jadad Scale and the Cochrane tool respectively. We performed the data analysis through the random effects model and the mean difference between CG and EG. The analysis of the publication bias was done with Egger Test. Results: We found a total of 887 studies in the aforementioned databases, and five randomized clinical trials were included in the present meta-analysis. In spite of the evidence level is very low, the hydrogymnastics promoted an increase in agility and leg muscle strength in elderly women.(AU)

Hallazgos clínicos y epidemiológicos en la neurofibromatosis tipo 1 y el complejo esclerosis tuberosa en una serie de pacientes pediátricos / Clinical and epidemiological findings in neurofibromatosis type 1 and tuberous sclerosis complex in a series of pediatric patients

Resumen: Introducción: La neurofibromatosis tipo 1 (NF1) es una entidad genética con una incidencia de 1 entre 2,500 a 3,500 nacimientos. Por su parte, el complejo esclerosis tuberosa (CET) presenta una incidencia de 1 entre 6,000 a 10,000 nacimientos. Ambas entidades neurocutáneas cursan con un patrón de herencia autosómico dominante, expresividad variable y la morbimortalidad se encuentra asociada a complicaciones multisistémicas. El objetivo de este trabajo fue exponer las características clínicas y epidemiológicas de una serie de pacientes pediátricos con diagnóstico de NF1 y CET atendidos en la Unidad de Genética Médica de la Universidad de Los Andes. Métodos: Este trabajo corresponde a una serie de casos de pacientes menores de 16 años atendidos en un período de 11 años, que cumplan con los criterios diagnósticos de NF1 y CET según los consensos para cada entidad. Resultados: Se estudiaron 89 pacientes, 73 con NF1 y 16 con CET. Presentaron dos criterios para NF1, 58 (79.45%) pacientes, y las máculas café con leche fueron las más frecuentes y presentes en todos los casos; 10 pacientes (62.50 %) presentaron dos criterios mayores para el CET, y las máculas hipocrómicas estuvieron igualmente presentes en todos los casos. Conclusiones: Este estudio muestra la forma de presentación clínica de las dos entidades neurocutáneas más frecuentes. Se discuten los criterios diagnósticos con el objeto de identificarlos a edades más tempranas y poder brindar una evaluación médica interdisciplinaria, tratamiento y un oportuno asesoramiento genético familiar.

Abstract: Background: Neurofibromatosis type 1 (NF1) is a genetic entity with an incidence of 1 in 2,500 to 3,500 births. Tuberous sclerosis complex (TSC) has an incidence between 1 in 6,000 to 10,000 births. Both neurocutaneous entities present an autosomal dominant inheritance pattern, variable expressivity and their morbidity and mortality is associated with multisystemic complications. The aim of this study was to present the clinical and epidemiological characteristics of a series of pediatric patients diagnosed with NF1 and TSC, who were treated in the Medical Genetics Unit of the Universidad of Los Andes. Methods: This work corresponds to a series of cases of patients under 16 years of age served in a period of 11 years, who met the diagnostic criteria of NF1 and CET according to the consensus for each entity. Results: We studied 89 patients, 73 with NF1 and 16 with TSC. 58 (79.45%) of the patients presented two criteria for NF1, with café-au-lait macules being the most frequent and present in all cases. 10 (62.50%) of the patients presented two major criteria for TSC; hypochromic macules were equally present in all cases. Conclusions: This study shows the clinical presentation of the two most frequent neurocutaneous entities. Diagnostic criteria are discussed in order to perform them at younger ages and to provide an interdisciplinary medical evaluation, treatment and timely family genetic counseling.

Performance in the Deep Squat Test and musculoskeletal injuries: a systematic review / O desempenho no Teste de Agachamento Profundo e lesões musculoesqueléticas: uma revisão sistemática

Abstract Introduction: The Deep Squat Test has been applied in pre-season evaluations of sports teams and in military courses to predict the risk of musculoskeletal injuries. Objective: To evaluate the association of DS performance and the risk of musculoskeletal injuries. Methods: In this systematic review, a search without language or time filters was carried out in MEDLINE, SciELO, SCOPUS, SPORTDiscuss, CINAHL and BVS databases with the following title words: injury prediction, injury risk and deep squat in December 2016. Participants' profile, sample size, classification of musculoskeletal injuries, follow-up time, study design and results were extracted from the studies. Bias risk analysis was performed with the Newcastle-Ottawa Scale. Results: Five studies were included, using different analyzes, whose results varied. Odds ratio ranged from 1.21 to 2.59 (95% CI = 1.01 - 3.28); relative risk was 1.68 (95% CI = 1.50 - 1.87), sensitivity from 3 to 24%, specificity from 90 to 99%, PPV from 42 to 63%, NPV from 72 to 75% and AUC from 51 to 58%. Conclusion: The DS can be a test whose presence of movement dysfunctions is a predictor of the risk of musculoskeletal injuries in individuals who practice physical exercises. However, due to the methodological limitations presented, caution is suggested when interpreting such results. PROSPERO registration: CRD4201706922.

Resumo Introdução: O Teste de Agachamento Profundo (TAP) tem sido utilizado em avaliações pré-temporada de equipes esportivas e em cursos militares para classificar o risco de lesões musculoesqueléticas. Objetivo: Avaliar a associação do desempenho no TAP e o risco de lesões musculoesqueléticas. Métodos: Nesta revisão sistemática, uma pesquisa sem filtros de linguagem ou de tempo foi realizada nas bases de dados MEDLINE, SciELO, SCOPUS, SPORTDdiscuss, CINAHL e BVS com as seguintes palavras-título: predição de lesões, risco de lesão e agachamento profundo em dezembro de 2016. Perfil dos participantes, tamanho da amostra, classificação das lesões musculoesqueléticas, tempo de seguimento, desenho do estudo e os resultados foram extraídos dos estudos. A análise do risco de viés foi realizada com a Escala Newcastle-Ottawa. Resultados: Foram incluídos cinco estudos, utilizando diferentes análises, cujos resultados variaram. O odds ratio variou de 1,21 a 2,59 (IC 95% = 1,01-3,28); O risco relativo foi de 1,68 (IC 95% = 1,50 - 1,87), sensibilidade de 3 a 24%, especificidade de 90 a 99%, VPP de 42 a 63%, VPN de 72 a 75% e AUC de 51 a 58%. Conclusão: O TAP pode ser um teste cuja presença de disfunções de movimento é um preditor do risco de lesões musculoesqueléticas em indivíduos que praticam exercícios físicos. No entanto, devido às limitações metodológicas apresentadas, sugere-se cautela ao interpretar esses resultados. Registro PROSPERO: CRD4201706922.

Azo Dye Mineralization by Phanerochaete Chysosporium in a Sequencing Bath Reactor

ABSTRACT The mineralization of the azo dye congo red by the fungi Phanerochaete chrysosporium was studied in two sequential batch bioreactors (R1 and R2), operated in cycles of 48 h (step I) and 24 h (step II). In step I, glucose concentration was 1 g.L-1 in both reactors and in step II, 1 g.L-1 of glucose was maintained in R1, but R2 received no addition of glucose. In step I, the average dye removal efficiencies were 76 ± 29 % (R1) and 53 ± 15% (R2), while in step II the averages recorded for dye removal for R1 and R2 were 84 ± 15 and 70 ± 28%, respectively. The rates of dye removal were 0.04 h-1 in R1 and 0.03 h-1 in R2 in step I. Higher rates were obtained in step II, 0,07 h-1 and 0,02 h-1 for R1 and R2, respectively. The highest dye removal occurred in R1 and, in R2, the residual dye was further removed. Laccase was the oxidised at higher amount, in step I was 54 μmol.min-1 for R1 and 38 μmolmin-1 for R2. The proposed treatment system was very effective in removing the azo dye, however the mineralization may not be complete and some by-products may have been formed, according to spectrofotometric analysis, were the peak corresponding to benzene, 220 nm, persisted.

Estudio dínico y molecular en una familia con displasia cleidocraneal / Clinical and molecular study in a family with cleidocranial dysplasia

La displasia cleidocraneal es una displasia ósea infrecuente con patrón de herencia autosómico dominante, que se caracteriza por presentar talla baja, fontanelas amplias, hipoplasia mediofacial, ausencia o hipoplasia de clavículas y alteraciones orodentales. Es producida por mutaciones en el gen RUNX2 localizado en 6p21.1. Se presentan dos adolescentes masculinos (primos hermanos) con displasia cleidocraneal, los cuales mostraron mutación heterocigota, cambio de sentido (c.674G>A, p.R225Q) en el gen RUNX2, caracterizados por presentar fenotipo grave, como ausencia de clavículas, pero con variación en el retardo en el cierre de fontanelas, alteraciones dentales (anomalías en forma y número) y escoliosis, por lo que se demuestra la variación intrafamiliar en estos pacientes con el mismo genotipo.

Cleidocranial dysplasia is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface hypoplasia, absence or hypoplasia of clavicles and orodental alterations. This is produced by mutations in the RUNX2 gene located at 6p21.1. We report two male adolescents (cousins), with cleidocranial dysplasia who presented a heterozygous missense mutation (c.674G> A, p.R225Q) in the RUNX2 gene, characterized by severe phenotype, such as absent clavicles, but with variation in the delayed fontanel closure, dental abnormalities (anomalies in shape and number) and scoliosis, thus demonstrating intrafamilial variation in these patients with the same genotype.

Identificação do paciente em neonatologia para assistência segura / The importance of newborn identification to the delivery of safe patient care / Identificación del paciente en neonatología para asistencia segura

Estudo transversal, observacional, documental, abordagem quantitativa, realizado numa Unidade Neonatal de um Hospital Universitário do Rio de Janeiro, no período de maio e agosto de 2016. Analisou a identificação de pacientes neonatos por meio de pulseira. Foram realizadas 200 observações; constatou-se que em 155 (77,5%), os neonatos apresentavam pulseiras de identificação. Quanto à localização, 91 (58,7%) delas estavam em tornozelos ou punhos; quanto à legibilidade dos descritores, 76 (83,5%) apresentavam-se em conformidade. Em 46 (89,3%) observações não houve checagem da pulseira antes da entrega do neonato ao familiar, assim como não houve a checagem antes da realização de procedimentos em 45 (88,3%) casos. Não houve registros em prontuários quanto à presença da pulseira em 174 (87%) casos, e localização em 179 (89,5%). Concluiu-se que a unidade investigada apresenta falhas relacionadas ao processo de identificação de seus pacientes, indicando que a implementação de estratégias para assistência segura é necessária e urgente (AU).

A cross-sectional, observational and documentary study with a quantitative approach, performed at a Neonatal Unit of a University Hospital of Rio de Janeiro, from May to August 2016. Identification of neonatal patients through the use of bands was assessed. For this purpose, 200 observations were made. It was found that 155 (77.5%) newborn infants had identification bands. As for the place, 91 (58.7%) of the bands were around the ankles or wrists of the infants. Regarding the legibility of the information on the ID bands, this requirement was met in the ID bands of 76 (83.5%) newborn infants. In 46 (89.3%) observations, the ID band was not checked before the newborn was handed to a parent, nor was it checked prior to procedures in 45 (88.3%) of the cases. The patients' medical records included no information regarding identification bands in 174 (87%) cases, and its place in 179 (89.5%) of the cases. It was concluded that the referred neonatal unit failed to provide appropriate identification of the patients, and the implementation of strategies for improving safe care is urgently needed (AU).

Estudio transversal, observacional, documental, de abordaje cuantitativo, realizado en una Unidad Neonatal de un Hospital Universitario de Rio de Janeiro, en el periodo de mayo y agosto de 2016. Se analizó la identificación de pacientes neonatos por medio de pulsera. Se realizaron 200 observaciones, donde se constató que en 155 (77,5%) de los casos, los neonatos presentaban pulseras de identificación. Acerca de la localización, 91 (58,7%) de ellas estaban en tobillos o muñecas; en cuanto a la legibilidad de los descriptores, 76 (83,5%) se presentaban de acuerdo con el deseable. No hubo chequeo de la pulsera en 46 (89,3%) observaciones antes de entregar el neonato al familiar. Tampoco hubo chequeo antes de la realización de procedimientos en 45 (88,3%) casos. No hubo registros en prontuarios acerca de la presencia de la pulsera en 174 (87%) casos, y localización en 179 (89,5%). Se concluye que la unidad investigada apunta fallas referentes al proceso de identificación de sus pacientes, indicando que la implementación de estrategias para asistencia segura es necesaria y urgente (AU).