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Dyskeratosis congenita (DC) is a telomeropathy presenting diagnostic and therapeutic challenges across multiple specialties; yet, subtle dermatological signs enable early detection, altering patient prognosis. A specific DC genetic sequencing was performed according to the clinical criteria of our patient in study. Subsequently, cross-checked information in the main genetic databases was carried out. Additionally, an extensive review of the literature was made to organize the main dermatological aspects in DC. We report a novel variant of DC. Additionally, we share 10 useful and practical messages for dermatologists and any specialist caring for this group of patients.
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Disceratose Congênita , Mutação de Sentido Incorreto , Telomerase , Humanos , Dermatologistas , Disceratose Congênita/genética , Disceratose Congênita/diagnóstico , Pele/patologia , Telomerase/genéticaRESUMO
Alzheimer's disease is the most common neurodegenerative disease, and its treatment is lacking. In this work, we tested Amylovis-201, a naphthalene-derived compound, as a possible therapeutic candidate for the treatment of AD. For this purpose, we performed three experiments. In the first and third experiment, animals received a bilateral administration of streptozotocin and, starting 24 h after injection, a daily dose of Amylovis-201 (orally), for 17 days or for the whole time of the experiment respectively (28 days), after which learning and memory, as well as the number of hippocampal dentate gyrus cells, were assessed. In the second experiment, healthy animals received a single dose of Amylovis-201, 10 min or 5 h after the learning section to assess whether this substance could promote specific mechanisms involved in memory trace formation. Our data show that, administration of a single dose of Amylovis-201, 10 min after the end of training, but not at 5 h, produces a prolongation in memory duration, probably because it modulates specific mechanisms involved in memory trace consolidation. Furthermore, daily administration of Amylovis-201 to animals with bilateral intracerebroventricular injection of STZ produces a reduction in the loss of the hippocampus dentate gyrus cells and an improvement in spatial memory, probably because Amylovis-201 can interact with some of the protein kinases of the insulin signaling cascade, also involved in neural plasticity, and thereby halt or reverse some of the effects of STZ. Taking to account these results, Amylovis-201 is a good candidate for the therapeutic treatment of AD.
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Doença de Alzheimer , Doenças Neurodegenerativas , Animais , Estreptozocina/farmacologia , Doenças Neurodegenerativas/metabolismo , Modelos Animais de Doenças , Hipocampo/metabolismo , Memória Espacial , Transtornos da Memória/metabolismo , Aprendizagem em LabirintoRESUMO
Purpose: The purpose of this study is to perform a systematic review of the scientific literature to compare single and double row techniques for rotator cuff tears in terms of functional, pain improvement and structural healing of the tendon. Methods: In order to carry out the research, a systematic selection of scientific articles has been made by consulting PubMed and The Cochrane Library databases. The articles included in the present study compare the single-row and double-row techniques, with publication date between 2016 and 2021. Results: Diverse results are observed in the UCLA, SST, Constant and ASES assessment scales and in the range of mobility, therefore, the superiority of one technique in terms of functional results is not established. The double row technique may show superiority in the strength variable, although there is a methodological variability in its measurement. The double-row technique may be related to more intense postoperative pain, while the single-row technique to residual shoulder pain. However, the variables strength and pain show non-homogeneous or coincident data. The superiority of the double row repair in the structural healing of the tendon and a lower re-tear rate than the single row technique is established with statistically significant results, being the most homogeneous and coincident studies.
Objetivos: El propósito de este estudio es realizar una revisión sistemática de la literatura científica para comparar las técnicas de hilera simple y doble para los desgarros del manguito de los rotadores en términos de curación funcional, del dolor y estructural del tendón. Métodos: Para llevar a cabo la investigación se ha realizado una selección sistemática de artículos científicos consultando las bases de datos PubMed y The Cochrane Library. Los artículos incluidos en el presente estudio comparan las técnicas de una y dos hileras, con fecha de publicación entre 2016 y 2021. Resultados: Se observan diversos resultados en las escalas de valoración UCLA, SST, Constant y ASES y en el rango de movilidad, por lo que no se establece la superioridad de una técnica en cuanto a resultados funcionales. La técnica de doble hilera puede mostrar superioridad en la variable fuerza, aunque existe una variabilidad metodológica en su medición. La técnica de doble hilera puede estar relacionada con un dolor postoperatorio más intenso, mientras que la técnica de hilera simple con dolor residual en el hombro. Sin embargo, las variables fuerza y ââdolor muestran datos no homogéneos o coincidentes. Se establece con resultados estadísticamente significativos, siendo los estudios más homogéneos y coincidentes, la superioridad de la reparación en doble hilera en la cicatrización estructural del tendón y una menor tasa de re-desgarro que la técnica de hilera simple.
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Lesões do Manguito Rotador , Ombro , Humanos , Estudos RetrospectivosRESUMO
OBJECTIVE: To study the potential role of ventricular volume (VV) estimation in the management of posthemorrhagic ventricular dilatation related to the need for ventriculoperitoneal (VP)-shunt insertion and 2-year neurodevelopmental outcome in infants born preterm. STUDY DESIGN: We included 59 patients from the Early vs Late Ventricular Intervention Study from 4 participating centers. VV was manually segmented in 209 3-dimensional ultrasound scans and estimated from 2-dimensional ultrasound linear measurements in a total of 1226 ultrasounds. We studied the association of both linear measurements and VV to the need for VP shunt and 2-year neurodevelopmental outcome in the overall cohort and in the 29 infants who needed insertion of a reservoir. We used general estimating equations to account for repeated measures per individual. RESULTS: Maximum pre-reservoir VV (ß coefficient = 0.185, P = .0001) and gestational age at birth (ß = -0.338; P = .0001) were related to the need for VP shunt. The estimated optimal single VV measurement cut point of 17 cm3 correctly classified 79.31% with an area under the curve of 0.76 (CI 95% 0.74-0.79). Maximum VV (ß = 0.027; P = .012) together with VP shunt insertion (ß = 3.773; P = .007) and gestational age (ß = -0.273; P = .0001) were related to cognitive outcome at 2 years. Maximum ventricular index and anterior horn width before reservoir insertion were independently associated with the need of VP shunt and the proposed threshold groups in the Early vs Late Ventricular Intervention Study trial were associated with long-term outcome. CONCLUSIONS: Pre-reservoir VV measurements were associated with the need for VP-shunt insertion and 2-year cognitive outcome among infants born preterm with posthemorrhagic ventricular dilatation. TRIAL REGISTRATION: ISRCTN43171322.
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Hidrocefalia , Recém-Nascido Prematuro , Recém-Nascido , Humanos , Lactente , Dilatação , Hemorragia Cerebral/complicações , Hemorragia Cerebral/diagnóstico por imagem , Hemorragia Cerebral/cirurgia , Derivação Ventriculoperitoneal , Idade Gestacional , Hidrocefalia/cirurgia , Estudos RetrospectivosRESUMO
INTRODUCTION: Traumatic brain injury (TBI) entails chronic neurological symptoms and deficits, such as smell and taste impairment. In the general population, a prevalence of 13.5% for smell impairment, 17% for taste impairment, and 2.2% for both have been reported. Studies establishing prevalence of sensorial dysfunction in the U.S. general population showed that prevalence increased with age and was higher in ethnic minorities and men. To understand the mechanisms that lead to these deficits, the prevalence of sensory dysfunction was studied in the Veteran TBI population of the VA Caribbean Healthcare System (VACHS). The aims were to find the prevalence of sensorial dysfunction in smell and/or taste in TBI patients at the VACHS Polytrauma Clinic and its association with demographic characteristics and medical comorbidities. The hypothesis was that the prevalence of sensory dysfunction in smell and/or taste of VACHS Veterans (mostly Hispanics minority) with TBI will be higher than the one historically reported in the literature for the U.S. general population. MATERIALS AND METHODS: A retrospective record review was held at the VACHS Polytrauma Clinic from January 2018 to January 2020 (before coronavirus disease 2019 pandemic) to evaluate the prevalence of sensory dysfunction. Data on demographics and comorbidities in the electronic medical records, and the TBI Second-Level Evaluation note, that was previously completed by a physician from the Polytrauma Clinic at the VACHS to diagnose and characterized the TBI event, were reviewed. Data were summarized using descriptive statistics. To establish the relation among demographic characteristics and comorbidities with the prevalence of smell and/or taste sensory dysfunction, chi-square and Fisher's exact tests were used. RESULTS: A total of 81 records were reviewed. This corresponded to all the patients diagnosed with TBI in the VACHS Polytrauma Clinic from January 2018 to January 2020. The prevalence of sensory dysfunction in the studied population was 38.3%. Men tend to present a higher prevalence of smell and/or taste dysfunction (40.0%) in comparison with women (16.7%); however, the difference did not achieve statistical significance (P = .399). Hispanics had a relatively higher prevalence of sensory dysfunction than non-Hispanics, but this difference did not reach statistical significance (P = .210). Forty-nine subjects were combat Veterans (60.5%). There was a significant correlation regarding the combat status of the subjects (P = .014), where 24 of the 49 combat Veterans presented smell and/or taste dysfunction (49.0%). A marginal significance was observed for obesity; obese participants were less likely to have a significant smell and/or taste dysfunction (P = .053). CONCLUSION: The investigators found that the prevalence of sensory dysfunction in smell and/or taste in VACHS Veterans with TBI was 38.3% (n = 31). A significant association was found between smell and/or taste dysfunction and being a combat veteran (P = .018). A marginally significant association to obesity was also observed (P = .053). To the scientific community, the results will serve as a base for sensorial dysfunction and TBI research given that this prevalence, and the correlation to demographics and comorbidities, has not been fully established in the Veteran population.
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Lesões Encefálicas Traumáticas , COVID-19 , Traumatismo Múltiplo , Veteranos , Masculino , Humanos , Feminino , Estudos Retrospectivos , Olfato , Paladar , Prevalência , Lesões Encefálicas Traumáticas/complicações , Lesões Encefálicas Traumáticas/epidemiologia , Distúrbios do Paladar/epidemiologia , Distúrbios do Paladar/etiologia , ObesidadeRESUMO
Abstract Introduction: The Loxicha Region of Oaxaca, Mexico, has been historically important for the study of Nymphalidae, second in the Papilionoidea for species richness. Describing the diversity patterns of this butterfly clade in Loxicha can improve our understanding of the evolutionary history of the Sierra Madre del Sur, the Mexican Pacific slope, and Mexico in general. Objective: To describe the temporal and spatial patterns of Nymphalidae diversity along an elevational gradient (80-2 600 m), and to compare Loxicha's fauna with other regions in Mexico. Methods: We obtained 28 756 records from 21 sites in the Loxicha Region, representing seven years of sampling. We estimate and analyze the diversity, endemism, and distributional patterns for three elevational levels and five vegetation types. We estimated species composition and similarity with other regions of the Pacific and Atlantic slopes. Results: We identified 189 taxa, including species and subspecies, from 85 genera and ten subfamilies of Nymphalidae. Loxicha contains 46 % of the species in the family recognized for Mexico, including ten endemic species and 56 endemic subspecies. Cloud forest and low elevations were the most diverse habitats for this family. There is a clear divergence between the Atlantic and Pacific faunas, and the Sierra Madre del Sur has two faunal components. High-elevation sites in Oaxaca, and in the neighboring state of Guerrero, have a distinctive fauna, apparently isolated from low-elevation sites, revealing an archipelagic distribution for cloud forest Nymphalidae. Conclusions: The Loxicha Region is one of the richest areas for Nymphalidae in Mexico. Distribution on the Pacific slope is determined by geographical history and ecological conditions, including elevation. Nymphalidae can be used to test hypotheses of biogeographic regionalization in Mexico.
Resumen Introducción: La Región Loxicha de Oaxaca, México, ha sido históricamente importante para el estudio de Nymphalidae, segunda en riqueza de especies en Papilionoidea. Describir los patrones de diversidad de este taxón de mariposas en Loxicha puede mejorar nuestra comprensión de la historia evolutiva de la Sierra Madre del Sur, la vertiente del Pacífico mexicano y México en general. Objetivo: Describir los patrones temporales y espaciales de la diversidad de Nymphalidae a lo largo de un gradiente altitudinal (80-2 600 m), y comparar la fauna de Loxicha con otras regiones de México. Métodos: Obtuvimos 28 756 registros de 21 sitios de la Región Loxicha, que representan siete años de muestreo. Estimamos y analizamos la diversidad, el endemismo y los patrones de distribución para tres niveles altitudinales y cinco tipos de vegetación. Estimamos la composición de especies y la similitud con otras regiones de las vertientes del Pacífico y Atlántico de México. Resultados: Identificamos 189 taxones, incluyendo especies y subespecies, de 85 géneros y diez subfamilias de Nymphalidae. Loxicha contiene 46 % de las especies de la familia reconocidas para México, incluidas diez especies endémicas y 56 subespecies endémicas. El bosque mesófilo y las elevaciones bajas fueron los hábitats más diversos para esta familia. Existe una clara divergencia entre las faunas del Atlántico y del Pacífico, y la Sierra Madre del Sur tiene dos componentes faunísticos. Los sitios de elevaciones altas en Oaxaca, y en el estado vecino de Guerrero, tienen una fauna distintiva, aparentemente aislada de los sitios de elevaciones bajas, lo que revela una distribución archipelágica para los Nymphalidae del bosque mesófilo. Conclusiones: La Región Loxicha es una de las zonas más diversas para Nymphalidae en México. La distribución en la vertiente del Pacífico está determinada por la historia geográfica y las condiciones ecológicas, incluida la elevación. Nymphalidae puede usarse para probar hipótesis de regionalización biogeográfica en México.
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Animais , Lepidópteros/classificação , MéxicoRESUMO
Hydrogels are a very useful type of polymeric material in several economic sectors, acquiring great importance due to their potential applications; however, this type of material, similarly to all polymers, is susceptible to degradation, which must be studied to improve its use. In this sense, the present work shows the degradation phenomena of commercial hydrogels based on potassium and sodium polyacrylate caused by the intrinsic content of different types of potable waters and aqueous solutions. In this way, a methodology for the analysis of this type of phenomenon is presented, facilitating the understanding of this type of degradation phenomenon. In this context, the hydrogels were characterized through swelling and FTIR to verify their performance and their structural changes. Likewise, the waters and wastewaters used for the swelling process were characterized by turbidity, pH, hardness, metals, total dissolved solids, electrical conductivity, DLS, Z-potential, and UV-vis to determine the changes generated in the types of waters caused by polymeric degradation and which are the most relevant variables in the degradation of the studied materials. The results obtained suggest a polymeric degradation reducing the swelling capacity and the useful life of the hydrogel; in addition, significant physicochemical changes such as the emergence of polymeric nanoparticles are observed in some types of analyzed waters.
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Resumen: Introducción: Las infecciones nosocomiales constituyen uno de los principales problemas sanitarios a nivel mundial. Una de las más frecuentes es la infección del tracto urinario, cuya frecuencia reportada en Uruguay fue de 9,8% en unidades de Cuidados Intensivos al año 2013. El objetivo fue determinar la prevalencia de infecciones urinarias nosocomiales en salas de cuidados moderados de un hospital universitario, conocer los factores de riesgo asociados a las mismas y el perfil microbiológico de los microorganismos causales. Metodología: Estudio de corte transversal, en salas de cuidados moderados de un hospital terciario y universitario de Montevideo, desde el 1 de agosto de 2017 hasta el 31 de julio de 2018. Se incluyeron pacientes que cumplieron criterios diagnósticos de infección urinaria nosocomial, con urocultivo compatible obtenido luego de 3 días del ingreso. Se completó la recolección de variables mediante entrevista con el paciente y revisión de historia clínica. Resultados: La prevalencia de infección urinaria nosocomial fue de 1,08% en el período de estudio. La mediana de edad fue 62,5 años y 52,3% eran de sexo masculino. La mediana de internación fue de 15 días, la mayoría en salas de Medicina Interna. El 93,2% presentó al menos un factor de riesgo, destacando la exposición a catéter urinario en el 68,3%. El 52,3% de los casos presentó infección urinaria asociada a catéter. El total de los aislamientos microbiológicos fue bacteriano, 84% de bacterias Gram negativas. Klebsiella pneumoniae fue el más prevalente (39,2%), seguido de Escherichia coli (34,2%). Las bacterias Gram positivas correspondieron en su totalidad a Enterococcus spp. Las bacterias Gram negativas mostraron tasas de resistencia mayores al 20% para múltiples antibióticos de varias categorías y 42,1% presentó betalactamasa de espectro extendido. Conclusiones: Las infecciones urinarias nosocomiales en cuidados moderados se presentaron en pacientes con internación prolongada y múltiples comorbilidades. Destaca la exposición a catéter urinario, con un elevado porcentaje de infecciones asociadas al mismo. Los microorganismos causales fueron altamente resistentes a múltiples antibióticos.
Abstract: Introduction: Nosocomial infections are one of the main health problems worldwide. One of the most frequent is urinary tract infection, whose frequency reported in Uruguay was 9.8% in Intensive Care Units in 2013. The objective was to determine the prevalence of nosocomial urinary tract infections in moderate care wards of a universitary hospital, know the risk factors associated with them and the microbiological profile of the causal microorganisms. Methodology: Cross-sectional study, in moderate care wards of a tertiary and universitary hospital in Montevideo, from August 1, 2017 to July 31, 2018. Patients who met diagnostic criteria for nosocomial urinary tract infection were included, with compatible urine culture obtained after 3 days of admission. Variables collection was made through an interview with the patient and a review of the clinical history. Results: The prevalence of nosocomial urinary tract infection was 1.08% during the study period. The median age was 62.5 years and 52.3% were male. The median hospital stay was 15 days, most of them in Internal Medicine wards. 93.2% presented at least one risk factor, highlighting exposure to urinary catheter in 68.3%. 52.3% of the cases presented catheter-associated urinary tract infection. The total of the microbiological isolates was bacterial, 84% of Gram negative bacteria. Klebsiella pneumoniae was the most prevalent (39.2%), followed by Escherichia coli (34.2%). The Gram-positive bacteria corresponded entirely to Enterococcus spp. Gram-negative bacteria showed resistance rates greater than 20% for multiple antibiotics from various categories and 42.1% had extended-spectrum beta-lactamase. Conclusions: Nosocomial urinary tract infections in moderate care occur in patients with prolonged hospitalization and multiple comorbidities. Exposure to urinary catheter stands out, with a high percentage of infections associated with it. The causative microorganisms were highly resistant to multiple antibiotics.
Resumo: Introdução: As infecções hospitalares são um dos principais problemas sanitários a nível mundial. Uma das mais frequentes é a infecção do trato urinário, cuja frequência relatada no Uruguai foi de 9,8% nas Unidades de Terapia Intensiva em 2013. O objetivo foi determinar a prevalência de infecções do trato urinário hospitalares em enfermarias de cuidados moderados de um hospital universitário, conhecer os fatores de risco associados e o perfil microbiológico dos microrganismos causadores. Metodologia: Estudo de corte transversal, em salas de cuidados moderados de um hospital terciário e universitário de Montevidéu, de 1º de agosto de 2017 a 31 de julho de 2018. Foram incluídos pacientes que preencheram os critérios diagnósticos para infecção do trato urinário hospitalar, com urocultura compatível obtida após 3 dias de admissão. A coleta de variáveis foi completada por meio de entrevista com o paciente e revisão da história clínica. Resultados: A prevalência de infecção urinária hospitalar foi de 1,08% no período estudado. A média de idade foi de 62,5 anos e 52,3% eram do sexo masculino. A média de permanência hospitalar foi de 15 dias, a maioria em enfermarias de Clínica Médica. O 93,2% apresentaram pelo menos um fator de risco, destacando-se a exposição ao cateter urinário em 68,3%. O 52,3% dos casos apresentaram infecção do trato urinário associada ao cateter. O total de isolados microbiológicos foi bacteriano, 84% de bactérias Gram-negativas. Klebsiella pneumoniae foi a mais prevalente (39,2%), seguida de Escherichia coli (34,2%). As bactérias Gram-positivas corresponderam inteiramente a Enterococcus spp . As bactérias Gram-negativas apresentaram taxas de resistência superiores a 20% para vários antibióticos de várias categorias e 42,1% apresentaram betalactamasa de espectro estendido. Conclusões: Infecções do trato urinário hospitalares em cuidados moderados ocorreram em pacientes com internação prolongada e múltiplas comorbidades. Destaca-se a exposição ao cateter urinário, com alto percentual de infecções associadas a ele. Os microrganismos causadores foram altamente resistentes a múltiplos antibióticos.
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RESUMEN La incidencia de tumores epiteliales ginecológicos y su diagnóstico en etapas avanzadas ocasionan daños físicos, impactan en la salud reproductiva y producen afectaciones psicológicas en las mujeres. Reducir el tiempo de su detección constituye un gran reto para la Salud Pública. El conocimiento y validación de diversos métodos enzimáticos de estudio, aplicados a la patología tumoral, permitirá la integración de cada resultado al entramado de reacciones, mecanismos de reconocimiento molecular y celular, así como de las vías de señalización, útiles para la comprensión de la enfermedad y sus mecanismos diagnósticos y terapéuticos. La determinación de la actividad de las enzimas metalo-óxidorreductasas en suero es una tentativa para la implementación de biomarcadores líquidos para el diagnóstico temprano y el pronóstico de tumores ginecológicos. El objetivo del presente trabajo es la recopilación de información actualizada acerca de los biomarcadores enzimáticos para la predicción, diagnóstico y seguimiento de los tumores epiteliales ginecológicos.
ABSTRACT The incidence of gynecological epithelial tumors and their diagnosis in advanced stages cause physical damage, impact on reproductive health and produce psychological effects in women. Reducing the time of its detection constitutes a great challenge for public health. The knowledge and validation of various enzymatic study methods, applied to tumor pathology, will allow the integration of each result into the network of reactions, molecular and cellular recognition mechanisms, as well as signaling pathways, useful for understanding the disease and its diagnostic and therapeutic mechanisms. The determination of the activity of metallo-oxidoreductases enzymes in serum is an attempt to implement liquid biomarkers for the early diagnosis and prognosis of gynecological tumors. The aim of the research is the compilation of updated information about enzyme biomarkers for the prediction, diagnosis and follow-up of gynecological epithelial tumors.
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ABSTRACT Introduction: Isokinetics is a tool commonly used in professional soccer. There is ongoing debate among researchers as to the isokinetic reference values a player should have. Objectives: To determine the absolute peak torque (PT) and average work of professional soccer players in relation to their positions on the field, and to establish the reference values for these variables. Methods: Purposeful sampling was used to select 289 professional soccer players. The sample included 32 goalkeepers, 100 defenders, 98 midfielders, and 59 strikers. The participants were measured preseason. The players were asked to perform a 10-minute warm-up on an exercise bike, and then to perform 5 repetitions at low speed, 10 at medium speed, and 25 at high speed, with 30 to 40-s of rest between each set of repetitions. The contraction method was concentric-concentric in a dynamometer Isomed 2000. Results: The average age, weight, and height of the players was 21.9 years, 74.3 kilograms, and 1.8 meters, respectively. The goalkeepers presented higher PT at the 3 measured speeds, and the higher average work at 180°/s and 240°/s in relation to defenders and midfielders. The strikers presented higher average work at 240°/s in relation to midfielders, and higher PT in relation to the defenders and midfielders. Absolute values were shown and reference values were established. Conclusions: The goalkeepers and strikers were the players that showed the greatest differences in their favor in relation to the other positions. The peak torque values and average work were described in relation to the player's position on the field. This study resulted in the creation of a tool for health professionals working with professional soccer players, providing reference values for these players in relation to their position on the field that can be used as benchmarks, by health professionals, to optimize soccer players' performance. Level of evidence II, Prospective comparative study.
RESUMEN Introducción: La evaluación isocinética es una herramienta de uso común en el fútbol profesional. Sigue existiendo debate entre los investigadores sobre los valores isocinéticos de referencia que debe tener un jugador. Objetivos: Determinar el torque máximo (TM) y el trabajo promedio de los futbolistas profesionales en relación a sus posiciones en el campo y establecer los valores de referencia para estas variables. MÉTODOS: Se seleccionó una muestra subjetiva de 289 futbolistas profesionales. Se incluyeron 32 porteros, 100 defensas, 98 centrocampistas y 59 delanteros. Los participantes fueron examinados en la pretemporada. Se solicitó a los participantes que realizaran un calentamiento de 10 minutos en bicicleta estática y luego realizar 5 repeticiones a baja velocidad, 10 a velocidad media y 25 a alta velocidad con 30 a 40 segundos de descanso entre cada serie de repeticiones. El método de contracción fue concéntrico-concéntrico en dinamómetro Isomed 2000. Resultados: La edad, el peso y la altura promedios de los jugadores fue de 21,9 años, 74,3 kilogramos y 1,8 metros, respectivamente. Los porteros presentaron TM más elevado en las 3 velocidades medidas y un mayor trabajo promedio a 180°/s y 240°/s en relación a defensas y centrocampistas. Los delanteros presentaron un mayor trabajo promedio a 240°/s en relación con los centrocampistas y TM más elevado en relación a defensas y centrocampistas. Se mostraron los valores absolutos y se establecieron los valores de referencia. Conclusiones: Los porteros y delanteros fueron los que mostraron mayores diferencias a su favor en relación al resto. Los valores de torque máximo y el trabajo promedio fueron descritos en relación a la posición del jugador en el campo. Los resultados del presente estudio son una herramienta para los profesionales de la salud que trabajan con futbolistas profesionales y proporcionó valores de referencia para estos futbolistas en lo que respecta a su posición que pueden utilizarse como referencia para optimizar el rendimiento. Nivel de evidencia II, Estudio comparativo retrospectivo.
RESUMO Introdução: A isocinética é uma ferramenta comum usada no futebol profissional. Entre os pesquisadores, há um debate contínuo sobre os valores isocinéticos de referência que um jogador deve ter. Objetivos: Determinar o pico de torque (PT) absoluto e o trabalho médio de jogadores de futebol profissional com relação às posições em campo e estabelecer os valores de referência para essas variáveis. MÉTODOS: Foi selecionada uma amostra subjetiva de 289 jogadores de futebol profissional. A amostra incluiu 32 goleiros, 100 zagueiros, 98 meio-campistas e 59 atacantes. Os participantes foram testados na pré-temporada. Os participantes foram solicitados a realizar aquecimento de 10 minutos em bicicleta ergométrica e, a seguir, realizar cinco repetições em baixa velocidade, 10 em velocidade média e 25 em alta velocidade com 30 a 40 segundos de descanso entre cada série de repetições. O método de contração foi concêntrico-concêntrico em um dinamômetro Isomed 2000. Resultados: A média de idade, peso e estatura dos jogadores foi de 21,9 anos, 74,3 quilos e 1,8 metros, respectivamente. Os goleiros apresentaram maior PT nas três velocidades medidas e maior média de trabalho a 180°/s e 240°/s com relação aos zagueiros e meio-campistas. Os atacantes tiveram maior trabalho médio a 240°/s com relação aos meio-campistas e maior PT com relação aos zagueiros e meio-campistas. Os valores absolutos foram mostrados e os valores de referência foram estabelecidos. Conclusões: Os goleiros e atacantes apresentaram as maiores diferenças a seu favor com relação às demais posições. Os valores de pico de torque e trabalho médio foram descritos com relação à posição do jogador em campo. Este estudo resultou na criação de uma ferramenta para profissionais de saúde que atuam com jogadores de futebol profissional e forneceu valores de referência para esses jogadores com relação à posição em campo que podem ser usados como referência para otimizar o desempenho dos jogadores de futebol. Nível de evidência II, Estudo retrospectivo comparativo.
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Early in 2020, an unexpected and hazardous situation occurred threatening and challenging all of humankind. A new coronavirus called SARS-CoV-2 was first identified in Wuhan, China, and its related disease, called COVID-19, has induced one of the most dangerous crises at a global level since World War II. The ultra-fast transmission rate of the virus and the high mortality rate led the World Health Organization (WHO) to officially declare the situation a pandemic. Governments, for their part, were forced to implement unprecedented mobility restrictions and cease a large part of their economic activities. These facts triggered multiple reactions from people who expressed their feelings mainly through social networks (like Twitter), using them as vectors of information and opinion. In this paper, a study carried out in different Spanish speaking countries (Chile, Mexico, Peru, and Spain) is presented, which addresses the manner in which the evolution of the pandemic outbreak has affected the emotions expressed by individuals on Twitter over the last 13 months (from March 2020 to March 2021). We used a total of 3 million tweets to achieve this task. We made use of a well-known framework called EmoWeb to capture the dynamic variation in the sentimental value of pandemic-related words. The results reflect to what degree the pandemic and its derived problems have influenced and affected the population of the selected countries in different ways. The outcomes also illustrate the evolution over time of opinions published on Twitter regarding several topics related to COVID-19.
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COVID-19 , Mídias Sociais , Chile , China/epidemiologia , Emoções , Humanos , México , Pandemias , Peru/epidemiologia , SARS-CoV-2 , EspanhaRESUMO
OBJECTIVE: To develop and test the Neonatal Encephalopathy-Rating Scale (NE-RS), a new rating scale to grade the severity of neonatal encephalopathy (NE) within the first 6 hours after birth. STUDY DESIGN: A 3-phase process was conducted: (1) design of a comprehensive scale that would be specific, sensitive, brief, and unsophisticated; (2) evaluation in a cohort of infants with neonatal encephalopathy and healthy controls; and (3) validation with brain magnetic resonance imaging findings and outcome at 2 years of age. RESULTS: We evaluated the NE-RS in 54 infants with NE and 28 healthy infants. The NE-RS had excellent internal consistency (Cronbach alpha coefficient: 0.93 [95% CI 0.86-0.94]) and reliability (intraclass correlation coefficient in the NE cohort 0.996 [95% CI 0.993-0.998; P < .001]). Alertness, posture, motor response, and spontaneous activity were the top discriminators for degrees of NE. The cut-off value for mild vs moderate NE was 8 points (area under the curve [AUC] 0.99, 95% CI 0.85-1.00) and for moderate vs severe NE, 30 points (AUC 0.93, 95% CI 0.81-0.99). The NE-RS was significantly correlated with the magnetic resonance imaging score (Spearman Rho 0.77, P < .001) and discriminated infants who had an adverse outcome (AUC 0.91, 95% CI 0.83-0.99, sensitivity 0.82, specificity 0.81, positive predictive value 0.87, negative predictive value 0.74). CONCLUSIONS: The NE-RS is reliable and performs well in reflecting the severity of NE within the first 6 hours after birth. This tool could be useful when assessing clinical criteria for therapeutic hypothermia in NE.
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Encefalopatias/diagnóstico , Doenças do Recém-Nascido/diagnóstico , Índice de Gravidade de Doença , Encéfalo/diagnóstico por imagem , Estudos de Casos e Controles , Estudos de Coortes , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
Background: Pimenta dioica is a native tree of Central America, Southern Mexico, and the Caribbean used in traditional medicine. It grows in wet forests in the Guatemalan departments of Petén and Izabal. Since the plant is not being economically exploited in Guatemala, this study was aimed at determining the composition of the essential oil of P. dioica leaves and fruits and the antibacterial activity of the leaves in order to evaluate its possible use in health products. The essential oils of fruits and leaves are used as rubefacient, anti-inflammatory, carminative, antioxidant, and antiflatulent in different countries. Fruits and leaves of P. dioica from Izabal Department were collected in April 2014 and extracted by hydrodistillation method. The oils were analyzed by gas chromatography coupled with mass spectrometry (GC/MS). Yields of 1.02 ± 0.11% for dried leaves and 1.51 ± 0.26% for fruits were obtained. Eugenol was the main component (65.9-71.4%). The leaf oil showed growth inhibition against two Gram-positive and two Gram-negative bacteria. The authors consider that the tree's leaves can be evaluated as a source of ingredients for antiseptic products, and that it is important to evaluate other types of properties such as anti-inflammatory activity.
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OBJECTIVE: To compare the effect of intervention at low vs high threshold of ventriculomegaly in preterm infants with posthemorrhagic ventricular dilatation on death or severe neurodevelopmental disability. STUDY DESIGN: This multicenter randomized controlled trial reviewed lumbar punctures initiated after either a low threshold (ventricular index of >p97 and anterior horn width of >6 mm) or high threshold (ventricular index of >p97 + 4 mm and anterior horn width of >10 mm). The composite adverse outcome was defined as death or cerebral palsy or Bayley composite cognitive/motor scores <-2 SDs at 24 months corrected age. RESULTS: Outcomes were assessed in 113 of 126 infants. The composite adverse outcome was seen in 20 of 58 infants (35%) in the low threshold group and 28 of 55 (51%) in the high threshold (P = .07). The low threshold intervention was associated with a decreased risk of an adverse outcome after correcting for gestational age, severity of intraventricular hemorrhage, and cerebellar hemorrhage (aOR, 0.24; 95% CI, 0.07-0.87; P = .03). Infants with a favorable outcome had a smaller fronto-occipital horn ratio (crude mean difference, -0.06; 95% CI, -0.09 to -0.03; P < .001) at term-equivalent age. Infants in the low threshold group with a ventriculoperitoneal shunt, had cognitive and motor scores similar to those without (P = .3 for both), whereas in the high threshold group those with a ventriculoperitoneal shunt had significantly lower scores than those without a ventriculoperitoneal shunt (P = .01 and P = .004, respectively). CONCLUSIONS: In a post hoc analysis, earlier intervention was associated with a lower odds of death or severe neurodevelopmental disability in preterm infants with progressive posthemorrhagic ventricular dilatation. TRIAL REGISTRATION: ISRCTN43171322.
Assuntos
Hemorragia Cerebral/complicações , Hemorragia Cerebral/cirurgia , Ventrículos Cerebrais/patologia , Doenças do Prematuro/cirurgia , Transtornos do Neurodesenvolvimento/epidemiologia , Tempo para o Tratamento , Hemorragia Cerebral/psicologia , Pré-Escolar , Estudos de Coortes , Dilatação Patológica , Feminino , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/psicologia , Masculino , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/prevenção & controle , Punção Espinal , Derivação VentriculoperitonealRESUMO
Resumen Se analizó un resultado con alteración cromosómica tomado de una base de datos conformada por un total de 4755 muestras de líquido amniótico extraídos mediante amniocentesis con indicación de su médico tratante, riesgo sérico y edad materna avanzada. En este reporte se presenta la detección de un mosaico de trisomía 21 en líquido amniótico, mediante la técnica de Banda G donde se analizaron 20 metafases. Los resultados obtenidos documentan una composición cromosómica 47, XY+21 y 46, XY con una relación 9:11 respecto a las metafases analizadas, confirmándose así el diagnóstico del Síndrome de Down secundario a mosaico.
Abstract A result with chromosomal alteration was analyzed from a database consisting of a total of 4755 samples of amniotic fluid extracted by amniocentesis with indication of the attending physician, serum risk and advanced maternal age. This report presents the detection of a mosaicism of trisomy 21 in amniotic fluid, using G- Banding where 20 metaphases were analyzed. The results obtained document a chromosomal composition 47, XY + 21 and 46, XY with a 9:11 ratio with respect to the metaphases analyzed, confirming the diagnosis of Down syndrome secondary to mosaicism.
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Síndrome de Down , Amniocentese , Líquido Amniótico , MosaicismoRESUMO
Resumen El diagnóstico de enfermedad de Still del adulto requiere la exclusión de cuadros infecciosos, tumorales y autoinmunes. Sin embargo, un proceso neoplásico poco expresivo clínicamente y en las pruebas complementarias puede pasar desapercibido al diagnóstico o comenzar con posterioridad, habiéndose descrito numerosos casos de enfermedad de Still asociada a tumores. Presentamos el caso de una paciente de 84 años con diagnóstico previo de enfermedad de Still del adulto, que desarrolló un tumor gástrico de evolución fatal 2 años después del diagnóstico del cuadro reumatológico.
Abstract The diagnosis of Adult-onset Still's disease (AOSD) requires the exclusion of infectious, malignant, and autoimmune diseases. However, a poorly symptomatic neoplastic process can easily be overlooked, or even onset later during the course of the disease. Therefore, numerous cases of Adult-onset Still's disease associated with malignancy have been reported. The case is reported of an 84-year old woman with previous diagnosis of AOSD who developed a gastric tumour with fatal outcome 2 years after the diagnosis of her rheumatic disease.
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Humanos , Feminino , Idoso de 80 Anos ou mais , Neoplasias Gástricas , Doença de Still de Início Tardio , Doenças Autoimunes , Diagnóstico , NeoplasiasRESUMO
The pleiotropic actions of interleukin-2 (IL-2) are essential for regulation of immune responses and maintenance of immune tolerance. The IL-2 receptor (IL-2R) is composed of IL-2Rα, IL-2Rß, and IL-2Rγ subunits, with defects in IL-2Rα and IL-2Rγ and their downstream signaling effectors resulting in known primary immunodeficiency disorders. Here, we report the first human defect in IL-2Rß, occurring in two infant siblings with a homozygous IL2RB mutation in the WSXWS motif, manifesting as multisystem autoimmunity and susceptibility to CMV infection. The hypomorphic mutation results in diminished IL-2Rß surface expression and dysregulated IL-2/15 signaling, with an anticipated reduction in regulatory T cells. However, in contrast to the IL-2Rß-/- animal model, which lacks NK cells, these siblings demonstrate an expansion of NK cells, particularly the CD56bright subset, and a lack of terminally differentiated NK cells. Thus, the early-onset autoimmunity and immunodeficiency are linked to functional deficits arising from altered IL-2Rß expression and signaling in T and NK cells.
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Subunidade beta de Receptor de Interleucina-2/genética , Células Matadoras Naturais/imunologia , Mutação/genética , Linfócitos T/imunologia , Autoimunidade/genética , Compartimento Celular , Proliferação de Células/genética , Infecções por Citomegalovirus/genética , Infecções por Citomegalovirus/imunologia , Homozigoto , Humanos , Imunofenotipagem , Interleucina-15/metabolismo , Interleucina-2/metabolismo , Subunidade beta de Receptor de Interleucina-2/química , Modelos Moleculares , Fenótipo , Irmãos , Transdução de Sinais , Resultado do TratamentoRESUMO
OBJECTIVE: To compare the effect of early and late intervention for posthemorrhagic ventricular dilatation on additional brain injury and ventricular volume using term-equivalent age-MRI. STUDY DESIGN: In the Early vs Late Ventricular Intervention Study (ELVIS) trial, 126 preterm infants ≤34 weeks of gestation with posthemorrhagic ventricular dilatation were randomized to low-threshold (ventricular index >p97 and anterior horn width >6 mm) or high-threshold (ventricular index >p97 + 4 mm and anterior horn width >10 mm) groups. In 88 of those (80%) with a term-equivalent age-MRI, the Kidokoro Global Brain Abnormality Score and the frontal and occipital horn ratio were measured. Automatic segmentation was used for volumetric analysis. RESULTS: The total Kidokoro score of the infants in the low-threshold group (n = 44) was lower than in the high-threshold group (n = 44; median, 8 [IQR, 5-12] vs median 12 [IQR, 9-17], respectively; P < .001). More infants in the low-threshold group had a normal or mildly increased score vs more infants in the high-threshold group with a moderately or severely increased score (46% vs 11% and 89% vs 54%, respectively; P = .002). The frontal and occipital horn ratio was lower in the low-threshold group (median, 0.42 [IQR, 0.34-0.63]) than the high-threshold group (median 0.48 [IQR, 0.37-0.68], respectively; P = .001). Ventricular cerebrospinal fluid volumes could be calculated in 47 infants and were smaller in the low-threshold group (P = .03). CONCLUSIONS: More brain injury and larger ventricular volumes were demonstrated in the high vs the low-threshold group. These results support the positive effects of early intervention for posthemorrhagic ventricular dilatation. TRIAL REGISTRATION: ISRCTN43171322.
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Lesões Encefálicas/fisiopatologia , Encéfalo/patologia , Ventrículos Cerebrais/fisiopatologia , Derivações do Líquido Cefalorraquidiano , Hemorragias Intracranianas/fisiopatologia , Encéfalo/diagnóstico por imagem , Lesões Encefálicas/diagnóstico por imagem , Hemorragia Cerebral/diagnóstico por imagem , Hemorragia Cerebral/cirurgia , Ventrículos Cerebrais/diagnóstico por imagem , Líquido Cefalorraquidiano , Dilatação , Feminino , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/cirurgia , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/diagnóstico por imagem , Doenças do Prematuro/fisiopatologia , Doenças do Prematuro/cirurgia , Hemorragias Intracranianas/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Substância Branca/diagnóstico por imagemRESUMO
RESUMEN El síndrome de Cogan (SC) es una enfermedad inflamatoria crónica, caracterizada por queratitis intersticial y síntomas vestíbulo-auditivos similares al síndrome de Meniere, acompañado o no de vasculitis sistémica. Es una enfermedad poco frecuente y su diagnóstico es difícil y a menudo tardío, lo que aumenta el riesgo de secuelas como pérdida visual o cofosis. Además, su tratamiento no está bien establecido y se basa en reportes de casos donde se ha observado la eficacia de fármacos como la ciclofosfamida, anti-TNF o tocilizumab. Presentamos un caso de SC sin respuesta a metotrexato, ciclofosfamida ni anti-TNF, y respuesta parcial a tocilizumab.
ABSTRACT Cogan's syndrome is a chronic inflammatory disease typified by interstitial keratitis and Meniere-like auditory involvement, and it can be accompanied by systemic vasculitis. It's a rare disease and its diagnosis is difficult and often late, which increases the risk of sequelae, such as visual loss or deafness. In addition, its treatment is not well-established and is based on case reports that have observed efficacy of drugs such as cyclophosphamide, anti-TNF or tocilizumab. A case of Cogan's syndrome is presented that did not respond to methotrexate, cyclophosphamide, or anti-TNF, but with a partial response to tocilizumab.
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Humanos , Masculino , Pessoa de Meia-Idade , Síndrome de Cogan , Sinais e Sintomas , Vasculite , Preparações Farmacêuticas , Doenças RarasRESUMO
Resumen Los avances en las técnicas de citogenética han permitido detectar con mayor precisión alteraciones cromosómicas tanto estructurales como de número. La amniocentesis genética es una prueba invasiva que se realiza entre la semana 16 y 20 de gestación que nos permite detectar distintas alteraciones cromosómicas. Presentamos un caso de una paciente que se le realizó a las 18 semanas de gestación la amniocentesis por edad materna avanzada (39 años), evidenciándose en el cariotipo una inversión pericéntrica del cromosoma 5. Se procedió a realizar cariotipos a los padres, ambos normales. De acuerdo con este resultado a la paciente se le realizó ecosonogramas para detectar si el feto presentaba malformaciones y se realizó asesoramiento genético. A continuación, se hizo evaluación del recién nacido y seguimiento durante 4 años para evaluar fenotipo y desarrollo neurológico. Como se comentará, el cromosoma 5 codifica para muchos genes y es responsable de muchas patologías, de las cuales este paciente no presentó ninguna.
Abstract Advances in cytogenetic techniques have made it possible to, more accurately, detect both structural and number chromosomal alterations. Genetic amniocentesis is an invasive test that is performed between week 16 and 20 of gestation that allows us to detect chromosomal alterations. We present a case of a patient who underwent amniocentesis by advanced maternal age (39 years) at 18 weeks of gestation, showing a pericentric inversion of chromosome 5 in the karyotype and proceeded to perform karyotypes of the parents, both normal. According to this result, the patient was screened for fetal malformations and genetic counseling. Newborn evaluation and 4-year follow-up to assess phenotype and neurological development. As discussed, chromosome 5 codes for many genes and is responsible for many pathologies that this patient did not present.