ABSTRACT
Hay-Wells syndrome is a rare genetic disorder caused by a heterozygous mutation in the TP63 gene that affects the development of ectodermal derivatives. While the exact prevalence of hearing loss in this condition is not well established, it has been suggested that approximately 50% of patients may present with varying degrees of hearing impairment. Here we present a case of a 6-year-old female patient diagnosed with Hay-Wells syndrome since birth who has been developing hearing loss predominantly on the right side for the past year. Considering the embryological origin of the external ear, an associated abnormality with the syndrome cannot be disregarded. Early recognition and diagnosis of this syndrome are crucial for appropriate management and potential interventions for hearing loss. Utilizing imaging methods can aid in demonstrating the characteristic alterations of the syndrome, which is important given its low incidence in the general population. This case report emphasizes the significance of prompt diagnosis, which is critical for implementing genetic counseling and effective disease prevention measures. We should be well-versed in the characteristic imaging findings that aid in early identification and genetic diagnosis of the disorder.
ABSTRACT
El Hospital Garrahan ha sido pionero en el diagnóstico molecular de patologías pediátricas en Argentina. Los avances tecnológicos de las últimas décadas en el área de la biología molecular, sentaron las bases para la optimización y ampliación del diagnóstico molecular a partir de la secuenciación masiva en paralelo de múltiples genes. El presente trabajo describe el proceso de implementación de los estudios de secuenciación de nueva generación y el desarrollo de la Unidad de Genómica en un hospital público pediátrico de alta complejidad, así como su impacto en las capacidades diagnósticas de enfermedades poco frecuentes de origen genético. La creación del Grupo Interdisciplinario de Estudios Genómicos constituyó la vía institucional para la toma de decisiones que implican la implementación de nuevos estudios genómicos y el establecimiento de prioridades diagnósticas, extendiendo la disponibilidad del diagnóstico molecular a más disciplinas. La Unidad de Genómica trabaja en diseñar las estrategias que permitan la mayor optimización de los recursos con los que cuenta el hospital, teniendo en cuenta el equipamiento disponible, las prioridades establecidas y la frecuencia de las distintas patologías. Se demuestra el salto significativo operado en nuestras capacidades diagnósticas, tanto en la variedad de enfermedades como en el número de genes analizados, habiendo estudiado a la fecha alrededor de 2.000 pacientes, muchos de los cuales ven de este modo finalizada su odisea diagnóstica. Los estudios de NGS se han convertido en una herramienta de la práctica diaria para la atención de un número importante de pacientes de nuestro hospital. Continuaremos trabajando para ampliar su aplicación a la mayor cantidad de patologías, a través de los mecanismos institucionales ya existentes (AU)
The Garrahan Hospital has been a pioneer in the molecular diagnosis of pediatric diseases in Argentina. The technological advances of the last decades in the area of molecular biology have laid the foundations for the optimization and expansion of molecular diagnostics through massive parallel sequencing of multiple genes. This study describes the process of implementation of next-generation sequencing studies and the development of the Genomics Unit in a public pediatric tertiary hospital, and its impact on the capacity to diagnose rare diseases of genetic origin. The creation of the Interdisciplinary Group of Genomic Studies constituted the institutional pathway for decision-making involving the implementation of new genomic studies and the establishment of diagnostic priorities, extending the availability of molecular diagnostics to additional disciplines. The Genomics Unit is working to design strategies that allow for optimization of the resources available to the hospital, taking into account the equipment available, the priorities established, and the frequency of the different diseases. It demonstrates the significant leap in our diagnostic capabilities, both in the variety of diseases and in the number of genes analyzed. To date, around 2,000 patients have been studies, many of whom have thus completed their diagnostic odyssey. NGS studies have become a tool in daily practice for the care of a significant number of patients in our hospital. We will continue working to expand its application to as many diseases as possible, through the existing institutional mechanisms (AU)
Subject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Genomics/instrumentation , Molecular Diagnostic Techniques/methods , High-Throughput Nucleotide Sequencing , Genomic Medicine/trends , Genetic Diseases, Inborn/diagnosis , Laboratories, Hospital , Hospitals, PediatricABSTRACT
Abstract The knowledge of ant assemblages that occurs in Conservation Units in the Atlantic Forest domain is a priority, considering the number of endemic species and the impacts that this biome has been suffering. The aim of this study was to evaluate ant assemblages in the Turvo State Park, which is the largest conservation unit in the State of Rio Grande do Sul and presents an important role on biodiversity protection. Two samplings were conducted in 2019, one in the summer (January) and the other in the spring (November and December), at five sites 2 km apart, with pitfall traps (soil and canopy), sardine baits, glucose, beating net, sweeping net and manual collection. We sampled 121 species in the summer and 120 in the spring, totaling 163 ant species. A total of 78 species (47.8%) occurred in both sampling seasons. The richest genera in the study were Camponotus (S = 30), Pheidole (S = 23) and Linepithema (S = 11). Seventeen species were recorded for the first time for Rio Grande do Sul state. The results indicate that this is one of the most species-rich assemblages of ants ever surveyed in a conservation unit in southern Brazil. The study highlights the importance of Conservation Units as protected environments against habitat loss for ant biodiversity. The results of this study contribute to myrmecofauna knowledge and serve as a basis for environmental impact studies, management plans and conservation of Atlantic Forest remnants.
Resumo O conhecimento das assembleias de formigas que ocorrem em Unidades de Conservação no domínio Mata Atlântica é prioritário, considerando-se o número de espécies endêmicas e os impactos que este bioma vem sofrendo. O objetivo desse trabalho foi caracterizar a assembleia de formigas que ocorre no Parque Estadual do Turvo, a maior unidade de conservação do Rio Grande do Sul que se destaca pelo seu papel na proteção da biodiversidade da Mata Atlântica austral. Foram realizadas duas amostragens no ano de 2019, uma no verão (janeiro) e a outra na primavera (novembro e dezembro), em cinco pontos distantes 2 km entre si, com armadilhas pitfall (solo e dossel), iscas de sardinha, iscas de glicose, guarda-chuva entomológico, rede de varredura e coleta manual. A riqueza amostrada no verão foi de 121 e na primavera de 120, totalizando 163 espécies. Ao todo, 78 espécies (47,8%) ocorreram concomitantemente nas duas amostragens. Os gêneros mais ricos foram Camponotus (S=30), Pheidole (S=23) e Linepithema (S=11). Dezessete espécies foram registradas pela primeira vez para o estado do Rio Grande do Sul. Os resultados se constituem em uma das mais ricas assembleias de formigas já inventariadas em uma unidade de conservação na região sul do Brasil. O estudo destaca a importância das Unidades de Conservação como ambientes protegidos contra a perda de habitat para a biodiversidade de formigas. Os resultados deste estudo contribuem para o conhecimento da mirmecofauna e servem como base para estudos de impacto ambiental, planos de manejo e conservação de remanescentes da Mata Atlântica.
Subject(s)
Animals , Ants , Seasons , Brazil , Ecosystem , BiodiversityABSTRACT
The knowledge of ant assemblages that occurs in Conservation Units in the Atlantic Forest domain is a priority, considering the number of endemic species and the impacts that this biome has been suffering. The aim of this study was to evaluate ant assemblages in the Turvo State Park, which is the largest conservation unit in the State of Rio Grande do Sul and presents an important role on biodiversity protection. Two samplings were conducted in 2019, one in the summer (January) and the other in the spring (November and December), at five sites 2 km apart, with pitfall traps (soil and canopy), sardine baits, glucose, beating net, sweeping net and manual collection. We sampled 121 species in the summer and 120 in the spring, totaling 163 ant species. A total of 78 species (47.8%) occurred in both sampling seasons. The richest genera in the study were Camponotus (S = 30), Pheidole (S = 23) and Linepithema (S = 11). Seventeen species were recorded for the first time for Rio Grande do Sul state. The results indicate that this is one of the most species-rich assemblages of ants ever surveyed in a conservation unit in southern Brazil. The study highlights the importance of Conservation Units as protected environments against habitat loss for ant biodiversity. The results of this study contribute to myrmecofauna knowledge and serve as a basis for environmental impact studies, management plans and conservation of Atlantic Forest remnants.
O conhecimento das assembleias de formigas que ocorrem em Unidades de Conservação no domínio Mata Atlântica é prioritário, considerando-se o número de espécies endêmicas e os impactos que este bioma vem sofrendo. O objetivo desse trabalho foi caracterizar a assembleia de formigas que ocorre no Parque Estadual do Turvo, a maior unidade de conservação do Rio Grande do Sul que se destaca pelo seu papel na proteção da biodiversidade da Mata Atlântica austral. Foram realizadas duas amostragens no ano de 2019, uma no verão (janeiro) e a outra na primavera (novembro e dezembro), em cinco pontos distantes 2 km entre si, com armadilhas pitfall (solo e dossel), iscas de sardinha, iscas de glicose, guarda-chuva entomológico, rede de varredura e coleta manual. A riqueza amostrada no verão foi de 121 e na primavera de 120, totalizando 163 espécies. Ao todo, 78 espécies (47,8%) ocorreram concomitantemente nas duas amostragens. Os gêneros mais ricos foram Camponotus (S=30), Pheidole (S=23) e Linepithema (S=11). Dezessete espécies foram registradas pela primeira vez para o estado do Rio Grande do Sul. Os resultados se constituem em uma das mais ricas assembleias de formigas já inventariadas em uma unidade de conservação na região sul do Brasil. O estudo destaca a importância das Unidades de Conservação como ambientes protegidos contra a perda de habitat para a biodiversidade de formigas. Os resultados deste estudo contribuem para o conhecimento da mirmecofauna e servem como base para estudos de impacto ambiental, planos de manejo e conservação de remanescentes da Mata Atlântica.
Subject(s)
Animals , Environmental Biomarkers , Ecological Equilibrium/analysis , Ants/classificationABSTRACT
Abstract The knowledge of ant assemblages that occurs in Conservation Units in the Atlantic Forest domain is a priority, considering the number of endemic species and the impacts that this biome has been suffering. The aim of this study was to evaluate ant assemblages in the Turvo State Park, which is the largest conservation unit in the State of Rio Grande do Sul and presents an important role on biodiversity protection. Two samplings were conducted in 2019, one in the summer (January) and the other in the spring (November and December), at five sites 2 km apart, with pitfall traps (soil and canopy), sardine baits, glucose, beating net, sweeping net and manual collection. We sampled 121 species in the summer and 120 in the spring, totaling 163 ant species. A total of 78 species (47.8%) occurred in both sampling seasons. The richest genera in the study were Camponotus (S = 30), Pheidole (S = 23) and Linepithema (S = 11). Seventeen species were recorded for the first time for Rio Grande do Sul state. The results indicate that this is one of the most species-rich assemblages of ants ever surveyed in a conservation unit in southern Brazil. The study highlights the importance of Conservation Units as protected environments against habitat loss for ant biodiversity. The results of this study contribute to myrmecofauna knowledge and serve as a basis for environmental impact studies, management plans and conservation of Atlantic Forest remnants.
Resumo O conhecimento das assembleias de formigas que ocorrem em Unidades de Conservação no domínio Mata Atlântica é prioritário, considerando-se o número de espécies endêmicas e os impactos que este bioma vem sofrendo. O objetivo desse trabalho foi caracterizar a assembleia de formigas que ocorre no Parque Estadual do Turvo, a maior unidade de conservação do Rio Grande do Sul que se destaca pelo seu papel na proteção da biodiversidade da Mata Atlântica austral. Foram realizadas duas amostragens no ano de 2019, uma no verão (janeiro) e a outra na primavera (novembro e dezembro), em cinco pontos distantes 2 km entre si, com armadilhas pitfall (solo e dossel), iscas de sardinha, iscas de glicose, guarda-chuva entomológico, rede de varredura e coleta manual. A riqueza amostrada no verão foi de 121 e na primavera de 120, totalizando 163 espécies. Ao todo, 78 espécies (47,8%) ocorreram concomitantemente nas duas amostragens. Os gêneros mais ricos foram Camponotus (S=30), Pheidole (S=23) e Linepithema (S=11). Dezessete espécies foram registradas pela primeira vez para o estado do Rio Grande do Sul. Os resultados se constituem em uma das mais ricas assembleias de formigas já inventariadas em uma unidade de conservação na região sul do Brasil. O estudo destaca a importância das Unidades de Conservação como ambientes protegidos contra a perda de habitat para a biodiversidade de formigas. Os resultados deste estudo contribuem para o conhecimento da mirmecofauna e servem como base para estudos de impacto ambiental, planos de manejo e conservação de remanescentes da Mata Atlântica.
ABSTRACT
RESUMEN Varios factores intervienen en la calidad de los alimentos, como los físicos, químicos, nutricionales, sensoriales y microbiológicos. Este último es importante, ya que, afecta las propiedades organolépticas del producto terminado y, además, puede ocasionar riesgos de salud pública asociados a peligros microbiológicos. Colombia es un país rico en gastronomía, incluyendo alimentos fermentados de elaboración artesanal (AFEA), los cuales son una alternativa actual para sistemas agroalimentarios que buscan alimentos más naturales. El objetivo de este estudio fue evaluar los criterios microbiológicos en AFEA y el cumplimiento de requisitos sanitarios para sensibilizar a productores de bebidas artesanales y revalorizar los productos. Se tomaron en cuenta 11 productores artesanales de Masato, Champús y Almidón agrio de yuca en zonas rurales del país, que voluntariamente aceptaron participar. Se midieron los parámetros de pH, humedad, sólidos solubles y recuentos microbiológicos. Con estos resultados, se pudo calcular el porcentaje de conformidad de los alimentos, de los cuales el 36 % de productos evaluados fueron aptos para el consumo. Se incumplieron los límites establecidos para Escherichia coli, Staphylococcus aureus, Bacillus cereus y Salmonella sp. Los análisis fisicoquímicos mostraron que el Masato y el Champús aportan condiciones abióticas para el crecimiento microbiano. Además, los productores Almidón agrio de yuca tuvieron mayor valoración en el cumplimiento de requisitos sanitarios y menor cumplimiento que los productores de Champús. Los análisis realizados indican que la mayoría de los alimentos incumplieron los límites permitidos por lo cual se debe capacitar a los productores en buenas prácticas de manufactura.
ABSTRACT Several factors intervene in the quality of the food, such as physical, chemical, nutritional, sensory, and microbiological. The latter is important as it affects the sensory properties of the finished product, and it can also cause public health risks associated with microbiological hazards. Colombia is a country rich in gastronomy, including artisanal fermented foods (AFEA), which are a current alternative for agri-food systems seeking for more natural foods. The objective of this study was to evaluate the microbiological criteria in AFEA and its compliance with the sanitary requirements to raise the awareness among crafted beverages producers and revalue the products. Eleven artisan producers of masato, champús and sour cassava starch in rural areas of the country, who voluntarily agreed to participate, were considered. The parameters of pH, humidity, soluble solids, and microbiological counts were measured. With these results, it was possible to calculate the compliance rate of the food, from which 36% of the products evaluated were fit for consumption. The limits established for Escherichia coli, Staphylococcus aureus, Bacillus cereus and Salmonella spp were breached. Physicochemical analysis showed that Masato and Champús provide abiotic conditions for microbial growth. In addition, the Sour cassava starch producers had higher compliance ratings regarding sanitary requirements but lower compliance ratings than champús producers. The performed analysis indicates that most of the food did not comply with the permitted limits, which is why producers must be trained in good manufacturing practices.
ABSTRACT
Resumen: Se hace una revisión narrativa del desarrollo y evolución hasta el momento de las copas de doble movilidad enfocada en sus aciertos, fallas y enseñanzas. Se mencionan las herramientas con las cuales contamos para prevenir y en su caso, tratar la luxación protésica de cadera y los principales problemas que presentan. El principal objetivo de esta publicación es hacer reflexiones y comentarios en cuanto a lo que debemos estar atentos ante un mundo de diseños que actualmente existen en el mercado con una diversidad de diseños, materiales, aleaciones, tipos de polietileno, etc. Se analizan los problemas que enfrentan algunos modelos para obtener una fijación estable a largo plazo, el problema que posiblemente representan los diferentes modelos contemporáneos de doble movilidad y sus resultados clínicos. Se discuten y comentan los puntos anteriores y se establecen conclusiones y recomendaciones.
Abstract: A narrative review of the development and evolution to date of the double mobility cups is made, focusing on their successes, failures and teachings. The tools with which we have to prevent and treat prosthetic hip dislocation and the main problems are mentioned. The main objective of this publication is to make reflections and comments about what we should be attentive to in a world of designs that currently exist in the market with a diversity of designs, materials, alloys, types of polyethylene, etc. Some models are found to obtain a stable long-term fixation, the problem that potentially represents the different contemporary models of double mobility and their clinical results. The previous points are discussed and commented and conclusions and recommendations were reached.
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Resumen: Ésta es la segunda de dos partes de la Historia y Desarrollo de la Artroplastía de Cadera. En esta parte se hace una revisión histórica del desarrollo de la artroplastía contemporánea de la cadera, dando continuidad a la primera, donde se analizaron los cuatro primeros períodos. Esta quinta etapa corresponde a la revisión de su última etapa que comprende desde 1970 hasta el momento actual. También se hacen comentarios acerca de nuestras actitudes en el presente y la ruta que vislumbramos hacia el futuro.
Abstract: This is the second of two parts of the history and development of hip arthroplasty. In this part, a historical review of the development of contemporary hip alloarthroplasty is made. The purpose of this part is to give continuity to the first one where the first four periods were analyzed. This fifth part corresponds to the revision of its last stage that includes from 1970 to the present time. Comments are also made about our attitudes in the present and the route we envision towards the future.
ABSTRACT
Resumen: Se hace una revisión histórica del desarrollo de la artroplastía de cadera. El trabajo se dividió en cinco etapas: la bioartroplástica, la pre-aloartroplástica, la del desarrollo temprano de la aloartroplastía endoprotésica, la etapa de transición y la de la aloartroplastía contemporánea. Se localizó la historia documental más importante en relación con los hechos que marcaron hitos en su desarrollo desde finales del siglo XIX hasta la actualidad. La finalidad de este manuscrito fue hacer una reflexión analizando cuáles han sido sus aciertos, sus fallas y las lecciones que nos ha dejado. Asimismo, se consideró trascendente no sólo repasar su desarrollo histórico, sino también ubicarnos en el presente y hacia dónde debemos dirigir nuestros esfuerzos para seguir innovando este recurso terapéutico, aprovechando las lecciones del pasado, las actitudes del presente y la ruta hacia el futuro. Dada la extensión del manuscrito, se dividió en partes. En esta primera parte se revisará desde la etapa bioartroplástica hasta la artroplástica actual.
Abstract: A historical review of the development of hip arthroplasty is made. The work was divided into five stages: bioarthroplastic, pre-alloarthroplastic, early development of endoprosthetic alloarthroplasty, transitional stage and contemporary alloarthroplasty. The most important documentary history was located in relation to the events that marked milestones in its development from the end of the 19th century to the present time. The purpose of this manuscript was to make a reflective analysis analyzing what have been its successes, its failures and the lessons it has left us. Likewise, it was considered transcendent not only to review its historical development, but also to locate ourselves in the present and towards where we should direct our efforts to continue innovating this therapeutic resource, taking advantage of the lessons of the past and the attitudes of the present and the route to the future. Given the length of the manuscript, it was divided into parts. In this first part, we will review from the bioarthroplastic stage to the current arthroplastic stage.
ABSTRACT
Resumen: Procesos cognitivos tales como pensamientos negativos son importantes moduladores de la experiencia de dolor. El Inventario de Pensamientos Negativos en Respuesta al Dolor (INTRP) es una herramienta que permite evaluar los pensamientos automáticos negativos asociados a la experiencia dolorosa. El presente trabajo se enfoca en la validación del INTRP en población argentina. Se testearon varios modelos previos, llegando al mejor ajuste el modelo de cinco factores: 1) autoverbalizaciones negativas, 2) pensamientos negativos de apoyo social, 3) pensamientos de discapacidad, 5) pensamientos de falta de control y 5) pensamientos de autoinculpación. Este modelo posee la misma estructura factorial que la hallada en la versión española, el cual posee un nivel mayor de especificidad en la detección de cogniciones asociadas al dolor. Se puede concluir que el INTRP es una herramienta confiable para su uso en el ámbito clínico que permita enfocar la terapia psicológica de argentinos con cefaleas.
Abstract: Cognitive processes such as negative thoughts are important modulators of the pain experience. The Inventory of Negative Thoughts in Response to Pain (INTRP) is a tool that allows evaluating negative automatic thoughts associated with the painful experience. The present work focuses on the validation of the INTRP in the Argentine population. Several previous models were tested, reaching the best fit of the five-factor model: 1) negative self-verbalizations, 2) negative thoughts of social support, 3) thoughts of disability, 5) thoughts of lack of control and 5) thoughts of self-blame. This model has the same factor structure as that found in the Spanish version, which has a higher level of specificity in detecting cognitions associated with pain. It can be concluded that the INTRP is a reliable tool for use in the clinical setting that allows to focus the psychological therapy of Argentines with headaches.
Subject(s)
Humans , Male , Female , Adolescent , Adult , Young Adult , Argentina , Validation StudyABSTRACT
Resumen: Introducción: Un mal control metabólico en pacientes con Diabetes Mellitus tipo 1 (DM1) se asocia a complica ciones a corto y largo plazo. Los adolescentes con Diabetes tipo 1 presentan peor control metabólico comparado con pacientes de otros grupos etarios. Escasos estudios han demostrado una asociación entre síntomas depresivos de las madres con el control metabólico de sus hijos adolescente. Objetivo: Evaluar la asociación entre síntomas depresivos maternos y control metabólico de adolescentes con DM1. Sujetos y Método: Estudio observacional transversal realizado en adolescentes, edades 10 a 18 años, con diagnóstico de DM1 de más de un año de evolución y sus madres. Se aplicó test de Beck II, cuestionario de depresión infantil, cuestionario SALUFAM y cuestionario de datos sociodemográficos. Se realizó hemoglobina glicosilada capilar, como marcador de control metabólico. Resultados: Se estudiaron 86 parejas (madre-hijo adolescente), adolescentes de edad media 14.04 años y 5.95 años de evolución de DM1. El 25.6% (n 22) de las madres presentó síntomas depresivos, asociándose a peor control metabólico en sus hijos (HbA1c: 7.66% y 8.91%, p < 0.001). El 17.9% de adolescentes presentó síntomas depresivos, no asociándose a síntomas depresivos maternos ni a peor control metabólico. Los síntomas depresivos maternos se asociaron a menor nivel educacional materno y pater no, mayor número de hijos en la familia, presencia de otros hermanos con enfermedades crónicas y a mayor vulnerabilidad en salud (SALUFAM). Conclusiones: La presencia de síntomas depresivos maternos se asocia a peor control metabólico en el adolescente con DM1, siendo fundamental un enfoque multidisciplinario familiar para obtener mejores resultados metabólicos en los adolescentes.
Abstract: Introduction: Poor metabolic control in patients with Type 1 Diabetes Mellitus (T1DM) is associated with short- and long-term complications. Adolescents with T1DM present poorer metabolic control than patients of other age groups. Few studies have shown an association between mothers with depressive symptoms and the metabolic control of their adolescent children. Objective: To evaluate the associa tion between maternal depressive symptoms and metabolic control of their adolescents with T1DM. Subjects and Method: Cross-sectional observational study carried out with adolescents aged between 10 and 18 years, with T1DM diagnosis of at least 1 year ago and their mothers. The Beck Depression Inventory-II and the SALUFAM questionnaire were applied, and sociodemographic data were co llected. Glycosylated hemoglobin from capillary blood was used as a marker of metabolic control. Results: 86 couples (mother-adolescent children) were studied. The average age of the adolescents was 14.04 years and the average evolution time of T1DM was 5.95 years. 27.325.6% of mothers had depressive symptoms, which was associated with worse metabolic control of their children (HbA1c of 7.66% and 8.91%, p-value <0.001). 17.9% of adolescents had depressive symptoms, which was not associated with maternal depressive symptoms or worse metabolic control. Maternal depressive symptoms were also associated with lower maternal and paternal educational levels, high number of children in the family, presence of other siblings with chronic illnesses, and high health vulnera bility (SALUFAM). Conclusions: The mother's depressive symptoms can be associated with worst metabolic control in T1MD adolescents. It is fundamental a multidisciplinary family approach to get better metabolic controls in T1DM adolescents.
Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Middle Aged , Glycated Hemoglobin/metabolism , Depression/psychology , Diabetes Mellitus, Type 1/psychology , Diabetes Mellitus, Type 1/blood , Mother-Child Relations/psychology , Mothers/psychology , Psychiatric Status Rating Scales , Biomarkers/blood , Cross-Sectional Studies , Depression/diagnosis , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 1/diagnosisABSTRACT
resumen está disponible en el texto completo
Abstract: Introduction: It is essential that orthopaedic resident physicians be highly proficient in all aspects, considering the balance between supply, demand, need and context. Fundamental to identify the capacity and quality installed for their training in Mexico. Material and methods: Observational Study, transverse, non-probabilistic sampling-conglomerates, in two phases. The instrument has 8 domains, 57 variables and 4,867 items. 60 graduate professors of 20 states, 50 hospital sites, 22 university programs. Results: 1,038 years of experience (collective intelligence), 17 years of experience/teacher (01 to 50 years). Identified: acute pathology 30 (2 to 90%), chronic pathology 30 (5 to 96%), patients ˂ 15 years, 10 (3 to 30%), patients between 15 and 65 years, 47 (2 to 78%), patients ˃ 65 years, 20 (2 to 60%), number of beds/seat 20 (2 to 510), number of clinics 3 (1 to 48), number of surgical procedures/headquarters per year at the national level, was 960 (50 to 24,650). The national average per resident doctor is 362 surgeries/year with 1,450 surgical times/year. Conclusions: The needs and resources for the training of physicians specializing in orthopedics/traumatology are highly heterogeneous, so it should be adapted to the epidemiological needs of the region of influence, in an area of epidemiological transition. 62.2% expressed not having or have bad academic and scientific infrastructure at its headquarters, more than 50% without rotation overseas and ˃ 90% without regular scientific production.
Subject(s)
Humans , Orthopedics , Orthopedic Procedures , Internship and Residency , Surveys and Questionnaires , MexicoABSTRACT
A suplementação proteico-energética (SPE) é uma estratégia adequada à bovinocultura de corte no período seco do ano, embora sua adoção equivocada possa comprometer seu benefício/custo. O objetivo deste estudo foi avaliar o desempenho de novilhas Nelore em pastagem diferida de Urochloa decumbens sob dois períodos de SPE, e realizar análise econômica desses sistemas de produção. O experimento foi conduzido sob delineamento inteiramente ao acaso, com 147 e 55 dias de SPE (sistemas 1 e 2, respectivamente), de 21/06 a 15/11/2016, com 16 e 20 novilhas nos sistemas 1 e 2, respectivamente. Os dados de desempenho foram analisados utilizando-se o PROC MIXED do SAS®, e as médias comparadas por PDIFF (P<0,05). Os pesos médios foram semelhantes (P>0,05) entre os sistemas de produção nas pesagens de 21/06, 12/07, 02/08, 23/08 e 15/11/2016. Os valores presentes líquidos foram positivos sob a taxa anual de desconto de 4%, sendo viáveis financeiramente. Por apresentarem taxa interna de retorno superior à taxa mínima de atratividade, os sistemas foram atrativos para investimento. Foi obtido balanço econômico positivo de R$ 25,26/animal para substituição do sistema 1 pelo sistema 2. A redução de 92 dias na SPE proporciona desempenho semelhante entre novilhas e maior eficiência econômica do sistema de produção.(AU)
Protein-energy supplementation (SPE) is an adequate strategy for beef cattle during drought season of the year, although the wrong adoption might compromise its cost/benefit ratio. The aim of this study was to evaluate Nellore heifers' performance under SPE periods and to draw economic analysis of production systems. The experiment was conducted under a completely randomized design, with two systems: 147 and 55 days of SPE (Systems 1 and 2), from 06/21/2016 to 11/15/2016, with 16 and 20 heifers to Systems 1 and 2, respectively. Performance data were analyzed by SAS® PROC MIXED and means compared by PDIFF (P< 0.05). The weight means were similar between the production systems (P> 0.05) at weighing of 06/21, 07/12, 08/02, 08/23 and 11/15/2016. The net present values were positive under annual discount rate of 4%, being financially viable. By presenting internal return rate higher than the minimum attractiveness rate, the systems were attractive for investment. Positive economic balance was obtained of R$ 25.26/animal to replace System 1 by 2. The reduction of 92 days in SPE provides similar performance between Nellore heifers and greater economic efficiency of the production system.(AU)
Subject(s)
Animals , Female , Cattle , Dietary Proteins/administration & dosage , Pasture/analysis , Diet/veterinary , Animal Feed/analysis , Animal Nutritional Physiological PhenomenaABSTRACT
Resumen: Actualmente contamos con diversos métodos de laboratorio para el diagnóstico de las infecciones periprotésicas, algunos ampliamente probados y otros en estudio. Han aparecido nuevos biomarcadores después del Consenso de Filadelfia, por tal motivo, nos planteamos hacer una revisión acerca de qué hay de nuevo para su diagnóstico después del Consenso y cuáles podrían ser los más útiles para el trabajo clínico diario. Material y métodos: Se revisaron artículos publicados entre 2013-2017 en cinco revistas de alto impacto. Las variables fueron: tipo de biomarcador, cifras de corte, sensibilidad, especificidad, valor predictivo positivo, valor predictivo negativo, área bajo la curva, razón de momios diagnósticos y cocientes de probabilidad positivos y negativos. Se calificó nivel de evidencia. Resultados: Los resultados se agruparon en Tablas. Se encontraron 54 artículos, de los cuales 31 no se ajustaban a los criterios de inclusión y fueron excluidos; sólo se incluyeron 23. Se encontraron 19 biomarcadores, cinco de los cuales no habían sido reportados hasta antes de 2013: La α defensina sinovial 1, la β defensina humana 3, el lactato sinovial y los receptores tipo Toll 1 y Toll 6. Conclusión: Los biomarcadores que ofrecen mayor utilidad clínica para el diagnóstico de IAP son: la proteína C reactiva, la esterasa leucocitaria, la interleucina-6, la interleucina-1β, la α-defensina y la interleucina-17. Detectamos cinco nuevos marcadores. Los estudios analizados muestran heterogeneidad en sensibilidad, especificidad y en sus cifras de corte. En la mayoría no usan aplicaciones estadísticas avanzadas que los harían más confiables.
Abstract: We now have a great variety of laboratory diagnostic tools, for the detection of PJI, some of them widely used and others under study. After the Philadelphia Consensus, they have emerged some new biomarkers. Because of that, we consider useful to review which new biomarkers we have for the diagnosis of PJI after the Consensus and which of them could be more useful in daily clinic work. Material and methods: We searched for articles published from 2013 to 2017 in 5 high impact journals. The analized variables were: biomarker type, cutoff value, sensitivity, specificity, positive predictive value, negative predictive value, area under the curve, positive likelihood ratio, negative likelihood ratio, diagnostic odds ratio. We value their evidence level. Results: Results were grouped in Tables. They were found 54 articles, 31 of them didn't meet the inclusion criteria so they were excluded; 23 studies were included in the revision. We found a total of 19 biomarkers studies, 5 of them weren't reported before 2013: Sinovial α defensin 1, human β defensin-3, sinovial lactate and Toll-like receptors 1 and 6. Conclusion: Of all the markers reviewed for the diagnosis of PJI, C reactive protein, esterase test strip, interleukin-6, interleukin-1 β, α defensin and interleukin-17 show the highest diagnostic utility. We found 5 new markers. The articles studies show high heterogeneity in their reported sensitivity, specificity and cutoff values. In most of them were not used advanced statistical tools which could make them more reliable.
Subject(s)
Humans , Biomarkers/analysis , Prosthesis-Related Infections/diagnosis , Synovial Fluid , alpha-Defensins/analysis , ConsensusABSTRACT
Clinical case: a girl of 7 ½ years who consulted for early pubarche without thelark, with a percentile size of 75 for a genetic target size in the 10th percentile, overweight with a 90th percentile BMI, and normal blood pressure. The biochemical study showed high levels of androgens: testosterone: 7.2 ng/dL, androstenedione of 5.1 ng / ml, 17OHP: 15 ng / dL with low normal DHEAS (0.26 ug/ml), Plasma Renin Activity normal low: 0.22 ng/mL/h. Initial imaging study showed a bone age of 10 years 6 months and normal abdominal and pelvic ultrasound. Molecular study showed no pathogenic variants in the CYP21A2 gene (21 Hydroxylase). With a probable diagnosis of non-classical congenital adrenal hyperplasia (HSRNC) and no known mutation, he started treatment with hydrocortisone (12 mg/m2). At 8.7 years, pubertal development begins and braking begins with LHRH analogues, which are administered for 18 months. Despite the treatment, signs of virilization and elevation of androgens (testosterone up to 130 ng/ml) are progressively accentuated, which do not diminish when trying different corticosteroid schemes. MRI of the abdomen and pelvis shows the normal adrenal glands and a solid nodular image of 2.1 x 1.6 cm in the right ovary (Figure 2), later demonstrated with pelvic ultrasound (Figure 2). Right laparoscopic oophorectomy was performed, whose biopsy demonstrated a Leydig cell tumor. One month after surgery, all androgenic levels were normalized, so the gradual suspension of corticosteroids began. Conclusion: Although HSRNC is the most frequent pathological cause of early pubarche, when it is associated with progressive clinical and biochemical hyperandrogenism despite adequate treatment and without pathogenic variants in the CYP21A2 gene, even with high levels of 17OHP, other causes should be considered, specifically, androgen producing tumors.
Caso clínico: niña de 7½ años que consulta por pubarquia precoz sin telarquia, con talla en percentil 75 para una talla objetivo genético en percentil 10, sobrepeso con IMC percentil 90 y presión arterial normal. El estudio bioquímico mostró niveles elevados de andrógenos: testosterona: 7,2 ng/dL, androstenediona de 5,1 ng/ml, 17OHP: 15 ng/dL con DHEAS normal baja (0,26 ug/ml), Actividad de Renina Plasmática normal baja: 0.22 ng/ mL/h. Estudio de imágenes inicial mostró una edad ósea de 10 años 6 meses y ecografía abdominal y pelviana normales. Estudio molecular no mostró variantes patogénicas en el gen CYP21A2 (21 Hidroxilasa). Con diagnosticó probable de hiperplasia suprarrenal congénita no clásica (HSRNC) y sin mutación conocida,inició el tratamiento con hidrocortisona (12 mg/m2). A los 8.7 años comienza desarrollo puberal y se inicia frenación con análogos de LHRH, los cuales se administran por 18 meses. A pesar del tratamiento se acentúan progresivamente los signos de virilización y hayelevación de los andrógenos (testosterona hasta 130 ng/ml), que no disminuyen intentando diferentes esquemas de corticoides. Se realiza RM de abdomen y pelvis que muestra las glándulas suprarrenales normales y una imagen nodular sólida de 2.1 x 1.6 cm en el ovario derecho (Figura 2), demostrada posteriormente con Ecografía pelviana (Figura 2). Se realiza ooforectomía derecha por vía laparoscópica, cuya biopsia demostró un tumor de células de Leydig. Un mes después de la cirugía, se normalizan todos los niveles androgénicos por lo que se inició la suspensión gradual de los corticoides. Conclusión: Aunque la HSRNC es la causa patológica más frecuente de la pubarquia precoz, cuando se asocia con un hiperandrogenismo clínico y bioquímico progresivo a pesar de un tratamiento adecuado y sin variantes patógenicas en el gen CYP21A2, incluso con niveles elevados de 17OHP, otras causas deben ser consideradas, específicamente tumores productores de andrógenos.