RESUMEN INTRODUCCIÓN: El nacimiento por cesárea se encuentra en aumento en todo el mundo, con diferencias significativas entre regiones. El objetivo fue determinar la situación del porcentaje de cesárea en mujeres con parto en la provincia del Neuquén en 2000-2020, buscando diferencias entre subsectores, zonas sanitarias, localidades e instituciones de salud . MÉTODOS: Se analizaron las estadísticas del Sistema Informático Perinatal referentes a vía de parto, recién nacidos y mujeres con partos entre 2000 y 2020. Se realizó un análisis estratificado del porcentaje de cesáreas, describiendo medidas de tendencia central, de dispersión y velocidad promedio de incremento anual . RESULTADOS: Las características sociodemográficas de madres gestantes se han modificado, con un descenso del embarazo adolescente y un aumento de madres de más de 35 años. Se observó un mayor porcentaje de bajo peso al nacer en el subsector privado y una importante disminución de la tasa bruta de natalidad, con mayor descenso en el interior provincial. Se encontró un aumento sostenido, así como diferencias crecientes y muy significativas entre subsectores (y dentro de estos entre las distintas instituciones) . DISCUSIÓN: Existen diferencias muy significativas en los resultados si se comparan los diferentes subsectores e instituciones respecto al nacimiento por cesárea. Estos resultados son un aporte para la construcción de políticas acordes a la realidad epidemiológica de la provincia y de cada institución de salud.

ABSTRACT INTRODUCTION: Cesarean delivery is increasing all over the world, with significant differences between regions. The aim was to determine the cesarean section rate in women giving birth between 2000 and 2020 in Neuquén province, seeking for differences between sub-sectors, health zones, cities and health institutions . METHODS: Statistics from the Perinatal Information System were analyzed regarding type of delivery, newborns and women delivering between 2000 and 2020. A stratified analysis of the cesarean section rate was conducted, describing central tendency and dispersion measures, and the average annual rate of increase . RESULTS: Maternal sociodemographic characteristics have changed, with adolescent pregnancy decrease and a higher number of mothers older than 35 years of age. The percentage of low birth weight was higher in the private sub-sector, with a significant decrease of gross birth rate, mainly inside the province. There was a steady increase as well as growing and very significant differences between sub-sectors (and within them between the different institutions) . DISCUSSION: The results show very significant differences when comparing sub-sectors and institutions regarding cesarean birth, and contribute to building policies tailored to the epidemiological situation of the province and each health institution.

Abstract Flow cytometry is a technology that has helped to rapidly advance many diverse areas of science by allowing the simultaneous measurement of multiple characteristics of each of the individual particles or cells in a sample as they pass at high speed through an area illuminated by one or more lasers. The information obtained includes data on the size and internal complexity, as well as other parameters inherent to each of the particles present in the sample, which are captured by the equipment as light signals. The most common particles analyzed in flow cytometers are cells, so the expression of molecules on their surface and inside, viability, functionality, cell proliferation, DNA content, cytokine production and many others can be analyzed. These determinations can be carried out by using antibodies coupled to fluorochromes or by using molecules whose fluorescence depends on the characteristic to be evaluated. Some flow cytometers are also sorters, which means that the equipment can physically sort those cells that exhibit the characteristics of interest; in addition, it is feasible that once they have been purified, they can be used in subsequent experiments. This review focuses on the fundamentals of flow cytometry and its main applications, which offer a great window of opportunity in the veterinary field, both in research and in the clinic.

Resumen La citometría de flujo es una tecnología que ha favorecido el rápido avance de muchas y muy diversas áreas de la ciencia, ya que permite la medición simultánea de múltiples características de cada una de las partículas o células individuales que se encuentran en una muestra mientras pasan a gran velocidad a través de una zona iluminada por uno o varios láseres. La información obtenida incluye datos sobre el tamaño y la complejidad interna, así como otros parámetros inherentes a cada una de las partículas presentes en la muestra, los cuales son captados por el equipo como señales luminosas. Las partículas más comúnmente analizadas en los citómetros de flujo son células, así que puede analizarse la expresión de moléculas tanto en su superficie como en su interior, la viabilidad, la funcionalidad, la proliferación celular, el contenido de ADN y la producción de citocinas entre muchas otras. Estas determinaciones pueden realizarse gracias a la utilización de anticuerpos acoplados a fluorocromos o bien, al uso de moléculas cuya fluorescencia depende de la característica que se quiera evaluar. Algunos citómetros de flujo son además clasificadores (“sorters”), lo que implica que el equipo puede separar físicamente las células que presentan las características de interés y además, es factible que una vez que han sido purificadas, éstas puedan emplearse en posteriores experimentos. En esta revisión se concentran los fundamentos de la citometría de flujo y sus principales aplicaciones, las cuales ofrecen una gran ventana de oportunidad en el ámbito veterinario, tanto en investigación como en la clínica.

SUMMARY: One of the structures of greatest interest in the maxillofacial region is the mandibular canal, where its preservation optimizes the success of clinical procedures. Due to its disposition inside the mandible, in vivo visualization requires the use of radiographic techniques, among which the Cone Beam CT (CBCT) stands out. The objective of this work is to compare the visualization of the human mandibular canal by means of CBCT images with different observers and radiation programs. Using images generated with CBCT in dry mandibles with different acquisition programs, coronal slices were obtained in the anterior, middle and posterior sectors of the mandibular canal, with a total of 240 measurements, which included two voxel sizes and two doses different radiation sources. Each of the images was evaluated by a Dentist, an Anatomy Master's degree and a specialist in Oral & Maxillofacial Radiology. Percentages of visualization according to observer were obtained for each image acquisition program. The Cochran Q test yielded differences between the observers (p <0.05) and the McNemar test defined these dissimilarities between the specialist and the other observers, but not between the latter. The Yates and Mann-Whitney U tests did not show statistical differences according to the acquisition program (p> 0.05). The degree of expertise of the observer influences the visualization and its precision. In turn, using an image acquisition program with a different voxel/radiation dose not affect the visualization, since it depends on the anatomy of the structure itself. A protocol with less radiation could be used in patients complying with the ALARA (“As Low As Reasonably Achievable”) premise.

RESUMEN: Una de las estructuras de mayor interés en la región maxilofacial es el canal mandibular, donde su preservación optimiza el éxito de los procedimientos clínicos. Por su disposición al interior de la mandíbula, la visualización in vivo requiere el uso de técnicas radiográficas, entre las que destaca el Cone Beam CT (CBCT). El objetivo de este trabajo es comparar la visualización del canal mandibular humano mediante imágenes en CBCT con distintos observadores y programas de radiación. Mediante imágenes generadas con CBCT en mandíbulas secas con distintos programas de adquisición, se obtuvieron cortes coronales en los sectores anterior, medio y posterior del canal mandibular, con un total 240 mediciones, las que incluyeron dos tamaños de voxel y dos dosis de radiación distintos. Cada una de las imágenes fue evaluada por un Cirujano Dentista, Máster en Anatomía y Especialista en radiología Máxilofacial. Se obtuvieron porcentajes de visualización según observador para cada programa de adquisición de imágenes. La prueba de Q de Cochran arrojó diferencias entre los observadores (p<0,05) y la prueba de McNemar definió dichas disimilitudes entre el especialista y los otros observadores, no así entre éstos últimos. Las pruebas de Yates y U de Mann-Whitney no otorgaron diferencias estadísticas según el programa de adquisición (p>0,05). El grado de experticia del observador influye en la visualización y su precisión. A su vez, utilizar un programa de adquisición de imagen con distinto voxel y/o dosis no afecta a la visualización, siendo esta dependiente de la anatomía propia de la estructura. Podría utilizarse un protocolo con menor radiación para el usuario cumpliendo con la premisa ALARA (As Low As Reasonably Achievable).

Abstract In swine production systems, one of the critical points that must be strictly attended to is the health of the pigs. Health is a structural component of animal welfare and reflects an optimal state of the animals, which has a direct impact on a higher productive performance and better development conditions. Infectious diseases are one of the greatest threats to the health of pigs and can cause losses of up to 100 % of production; therefore, it requires constant attention and continuous monitoring by the veterinarian and producers, in perfect coordination with the official health authorities. Currently, the implementation of best practices in the production chain is of interest to both producers and consumers. The control of infectious diseases requires collaboration between the various actors in the environment and must be considered a public good, since their negative repercussions can range from the local to the global level. This review will address the main infectious diseases that endanger swine health, their impact, the main contributions made by the National Institute for Research in Forestry, Agriculture and Livestock (INIFAP) in its 35 years of life, mainly at the National Center for Disciplinary Research in Animal Health and Safety (CENID-SAI), formerly known as the emblematic CENID-Microbiología or Palo Alto.

Resumen En los sistemas de producción porcina, uno de los puntos críticos que deben ser atendidos con estricto rigor, es la salud de los cerdos. La salud, es un componente estructural del bienestar animal y refleja un estado óptimo de los animales, lo que repercute directamente en un mayor desempeño productivo y mejores condiciones de desarrollo. Uno de los eslabones más frágiles de la salud de los cerdos, es la presencia de enfermedades infecciosas más importantes, las cuales pueden representar pérdidas hasta del 100 % de la producción, por lo cual, debe ser un tema de atención constante, y continuamente vigilado por el Médico Veterinario Zootecnista y los productores, en perfecta coordinación con las autoridades sanitarias oficiales. En la actualidad, la implementación de mejores prácticas en la cadena productiva es de interés para productores y consumidores. El control de las enfermedades infecciosas debe ser un tema de colaboración entre los diferentes actores del entorno y ser considerado un bien público, ya que las repercusiones negativas, pueden ser desde el nivel local hasta mundial. En la presente revisión, se abordará la temática relacionada con las principales enfermedades infecciosas que ponen en riesgo la salud porcina, el impacto, las principales aportaciones realizadas por el Instituto Nacional de Investigaciones Forestales, Agrícolas y Pecuarias (INIFAP) en sus 35 años de vida, específicamente en el Centro Nacional de Investigación Disciplinaria en Salud Animal e Inocuidad (CENID-SAI), anteriormente conocido como el emblemático CENID-Microbiología o Palo Alto.

SUMMARY: The mandibular canal is a structure of special interest, considering that its preservation during clinical procedures is vital. Given its location inside the bone, in vivo studies including X-rays and Cone Beam CT (CBCT) analysis are among the techniques required for an evaluation. The aim of this paper is to compare biometrics of the human mandibular canal from an anatomic dissection, with the morphometry of images obtained with CBCT. In this study, 216 measurements were obtained from cross sections carried out in the anterior, middle and posterior sectors of the mandibular canal in dry jaws, through CBCT images. Linear measurements of the mandibular canal were carried out using radiopaque markers that were arranged with respect to the outlying walls that correspond to the alveolar/residual, basal, internal and external corticals. The vertical and transverse diameters of the canal was measured, along with the distances between the alveolar/residual and basal cortex, and between the internal and external corticals. The average values of each of the linear measurements were obtained, both of the biometrics in the dry jaw and the morphometry performed in the CBCT. Then the statistical differences of each measurement (L1-L6 and D1-D2) between both techniques were determined, using the Pearson correlation test, where a very high positive correlation was obtained (p ›0.987). Additionally, it was determined that measurements are not affected by the sector of the analyzed channel (p ›0.987). The measurements made L1-L6 and D1-D2, no significant differences were found between the biometrics with respect to the morphometry measurements made in the CBCT images. Measures L4 and L5 are those that offer the lowest percentage differences with other research, due to lower absorption of the corticals involved.

RESUMEN: El canal mandibular es una estructura de especial interés considerando que es vital su preservación durante actos clínicos. Por encontrarse al interior del hueso requiere un estudio in vivo mediante el uso rayos X, involucrando técnicas entre las que destaca la TC Cone Beam (TCCB). El objetivo de este trabajo es comparar la biometría del canal mandibular humano obtenida en la disección anatómica con la morfometría de las imágenes generadas en TCCB. A partir de cortes coronales realizados en los sectores anterior, medio y posterior del canal mandibular en mandíbulas secas, y mediante imágenes generadas en la TCCB, se obtuvieron 216 mediciones en cada una de técnicas aplicadas. Las mediciones lineales del canal mandibular se efectuaron utilizando marcadores radiopacos que fueron dispuestos en relación a las paredes vecinas que corresponden a las corticales alveolar/residual, basal, interna y externa. Se midió el diámetro vertical y transversal del canal, junto con las distancias entre la cortical alveolar/residual y basal, y entre la cortical interna y externa. Se obtuvieron los valores promedio de cada una de las mediciones lineales, tanto de la biometría en la mandíbula seca como de la morfometría realizada en la TCCB. Luego se determinó las diferencias estadísticas de cada medición (L1-L6 y D1-D2) entre ambas técnicas, utilizando la prueba de correlación de Pearson, donde se obtuvo una correlación positiva muy alta (p›0,987). Adicionalmente se determinó que las mediciones no se ven afectadas por el sector del canal analizado (p›0,987). En las mediciones realizadas L1-L6 y D1-D2, no se encontraron diferencias significativas entre la biometría con respecto a las medidas de morfometría hechas en las imágenes de la TCCB. Las medidas L4 y L5 son las que ofrecen menor diferencias porcentuales con otras investigaciones, debido a una menor absorción de las corticales involucradas.

RESUMEN La familia Rallidae, ampliamente distribuida, tiene una alta proporción de especies amenazadas e información limitada sobre su biología reproductiva. La subespecie endémica y amenazada de la tingua moteada, Porphyriops melanops bogotensis, constituye un grupo aislado de Colombia con poca información sobre su reproducción y desarrollo. Describimos la biología reproductiva y el desarrollo de los pollos de P. m. bogotensis, aportando información novedosa y útil para su conservación. El estudio se hizo en la sabana de Bogotá, Colombia entre 2016 y 2019. Semanalmente hicimos recorridos en busca de nidos para su descripción y seguimiento. Se incubaron artificialmente catorce huevos; los polluelos fueron criados en cautiverio, haciendo seguimiento de su crecimiento y cambio de plumaje hasta terminar su desarrollo. Las aves anidaron durante todo el año; el número de huevos varió entre tres y seis, con un período de incubación de 18-20 días. Se alcanzó el tamaño definitivo alrededor de los 55 días, con diferencias significativas entre sexos. El color definitivo del pico se adquiere a los 75 días mientras que el color del iris y plumaje adulto se alcanza entre los días 150 y 165. En términos generales la reproducción y desarrollo de P. m. bogotensis concuerda con lo descrito para otros miembros de la familia Rallidae. Los detalles del cambio en coloración de la subespecie durante su desarrollo permiten determinar la edad de individuos silvestres.

ABSTRACT The Rallidae is a widely distributed family in the planet, with a high proportion of endangered species and limited information on reproductive biology. Porphyriops melanops bogotensis is an endangered and isolated endemic Colombian subspecies and no detailed information about its breeding biology and nestling development. We describe the breeding biology of P. m. bogotensis and the development of the nestlings, thus providing novel information that may help its conservation. The study was done in the Bogotá area highland plateau between 2016 and 2019. We surveyed the area weekly in search of nests for description and monitoring. We artificially incubated fourteen eggs; these chicks were raised in captivity until completely developed while measuring growth and taking notes on color changes. The birds nested all year long; clutch size varied between three and six eggs, with an incubation period of 18-20 days. The rails reached their definite size by day 55, with significant differences between sexes. The beak acquired the final color by day 75, while adult eye and plumage color were reached between 150 and 165 days after hatching. In general terms reproductive behavior and development of P. m. bogotensis are like what is known for other members of the Rallidae. The detailed description of coloration change of the subspecies during its development allows precise age determination of individuals in the wild.

Abstract: In this paper we present new data of sites with engraved rock art in the Curi-Leuvú basin, north of Neuquén Province, Argentina, and discuss them through the archaeological models proposed for the region at different spatial scales. In this way, we integrate the rock art evidence within the general approaches on the use of space in northern Neuquén, and propose a contextualization of rock art production through a comparative analysis with the previously known sites for the high basin of the Neuquén River and the southeast end of the Maule region in Chile. The initial results show that, although they structured their rock art production in a particular way, the human groups that inhabited the Curi-Leuvú Basin during the Late Holocene actively participated in a regional dynamics of production and circulation of shared visual codes and information in the northwest of Neuquén.

Resumen: En este trabajo se presentan nuevos datos de sitios con grabados rupestres de la Cuenca del Curi-Leuvú, norte de la provincia de Neuquén, Argentina, y se los discute a partir de los modelos arqueológicos propuestos para la región en diferentes escalas espaciales. De este modo, integramos la evidencia rupestre dentro de los planteos generales sobre el uso del espacio en el norte de Neuquén, como también avanzamos hacia la contextualización de la producción rupestre por medio de un análisis comparativo con los motivos presentes en sitios conocidos para la cuenca alta del Río Neuquén y el extremo sudeste de la región del Maule, en Chile. Los resultados muestran que los grupos humanos que habitaron la Cuenca del Curi-Leuvú durante el Holoceno Tardío, si bien estructuraron su producción rupestre de forma particular, participaron activamente de una dinámica regional de producción y circulación de códigos visuales e información compartida en el noroeste de Neuquén.

RESUMO Introdução: A doença de Huntington (DH), causada por uma repetição CAG expandida no HTT, não possui tratamento e biomarcadores são necessários para futuros ensaios clínicos. Objetivo: Nosso objetivo foi verificar se os níveis de carnitina livre e aminoácidos de cadeia ramificada se comportam como potenciais biomarcadores na DH. Métodos: Portadores sintomáticos e assintomáticos e controles foram recrutados. Idade, sexo, índice de massa corporal (IMC), idade de início, duração da doença, escores UHDRS e trato CAG expandido foram obtidos; valina, leucina, isoleucina e carnitina livre foram medidas. Foram realizadas análises basal e longitudinal. Resultados: Setenta e quatro portadores sintomáticos, 20 portadores assintomáticos e 22 não portadores foram incluídos. No início do estudo, os níveis de valina estavam reduzidos em portadores de DH sintomáticos e assintomáticos quando comparados aos não portadores. Não foram observadas diferenças nos níveis de carnitina livre ou isoleucina + leucina entre os grupos. O IMC dos indivíduos sintomáticos foi menor que o dos não portadores. Níveis de valina correlacionaram-se com o IMC. Avaliação de acompanhamento foi realizada em 43 indivíduos sintomáticos. A pontuação do escore motor total da UHDRS aumentou 4,8 pontos/ano em média. Não foram observadas reduções significativas no IMC ou na valina, enquanto os níveis de carnitina livre e isoleucina+leucina aumentaram. Conclusões: Embora os níveis de valina tenham sido menores nos portadores de DH e estivessem relacionados às perdas de IMC observadas em indivíduos pré-sintomáticos, nenhum desses metabólitos parece ser biomarcador para a DH.

ABSTRACT Background: Huntington’s disease (HD), caused by an expanded CAG repeat at HTT, has no treatment, and biomarkers are needed for future clinical trials. Objective: The objective of this study was to verify if free carnitine and branched chain amino acids levels behave as potential biomarkers in HD. Methods: Symptomatic and asymptomatic HD carriers and controls were recruited. Age, sex, body mass index (BMI), age of onset, disease duration, UHDRS scores, and expanded CAG tract were obtained; valine, leucine, isoleucine, and free carnitine were measured. Baseline and longitudinal analysis were performed. Results: Seventy-four symptomatic carriers, 20 asymptomatic carriers, and 22 non-carriers were included. At baseline, valine levels were reduced in symptomatic and asymptomatic HD carriers when compared to non-carriers. No difference in free carnitine or isoleucine+leucine levels were observed between groups. BMI of symptomatic individuals was lower than those of non-carriers. Valine levels correlated with BMI. Follow-up evaluation was performed in 43 symptomatic individuals. UHDRS total motor score increased 4.8 points/year on average. No significant reductions in BMI or valine were observed, whereas free carnitine and isoleucine+leucine levels increased. Conclusions: Although valine levels were lower in HD carriers and were related to BMI losses observed in pre-symptomatic individuals, none of these metabolites seem to be biomarkers for HD.

Abstract In Brazil, the population in general has little knowledge about genetic risks, as well as regarding the role and importance of the Cancer Genetic Counseling (CGC). The goal of this study was to evaluate cancer-related worry and cancer risk perception during CGC sessions in Brazilian women at-risk for hereditary breast cancer. This study was performed in 264 individuals seeking CGC for hereditary breast cancer. Both cancer-affected and unaffected individuals were included. As results, individuals with and without cancer reported different motivations for seeking CGC and undergoing genetic testing. A correlation was observed between age at the first CGC session and age at which the closest relative was diagnosed with cancer. Multivariate analysis showed that educational level, cancer risk discussion within the family, and number of deaths by cancer among first-degree relatives influenced positively the cancer risk perception. In conclusion, the results of this study indicate that cancer-related worry and cancer risk perception are significant aspects of morbidity in individuals seeking CGC, whether they are cancer-affected or unaffected. CGC has an important role in health education and cancer prevention for its potential of promoting an accurate perception of the risk.

Abstract Huntington’s disease (HD) is due to dominant expansions of the CAG repeat of the HTT gene. Meiotic instability of the (CAG)n might impact the disorder frequency. We report on HD minimal prevalence in Rio Grande do Sul (RS) state, Brazil, and on intergenerational instability of the (CAG)n in HD families. Symptomatic and at-risk subjects from 179 HD families were ascertained between 2013 and 2016. Clinical, molecular and family history data were obtained. Expanded (CAG)n length differences between parent and child (delta-expanded-(CAG)n) were calculated. Effect of parental age on the (CAG)n instability upon transmission was inferred by correlating delta-expanded-(CAG)n between siblings to their age differences. HD minimal prevalence in RS state was estimated as 1.85:100,000 inhabitants. Alleles with (CAG)27-35 were found on 21/384 non-disease associated chromosomes (5.5%); among 253 expanded alleles, four (1.6%) were within reduced penetrance range with (CAG)36-39. In 32 direct transmissions, mean instability was larger among paternal than maternal transmissions. In direct transmissions and in 51 sibling pairs, parental age at the time of child birth were not correlated with delta-expanded-(CAG)n. Briefly, HD prevalence in RS state was lower than those reported for European populations. Expanded (CAG)n transmissions were unstable and not associated to parental age.

ABSTRACT: The current study aimed to describe the massive mortality of farmed Nile tilapia Oreochromis niloticus associated with the monogenean Gyrodactylus cichlidarum from the northwestern Mexican Pacific coast. The ectoparasite was identified using measurements of the hard parts and compared with previous literature. Approximately 20,000 tilapias were subjected to subsequent losses over a three day period, a total of 2% of the initial seed stocked died due to the presence of this gyrodactylid parasite. The presence of the monogenean was the principal cause for chemical treatments. There is no doubt that infections by parasites have major consequences for species of small fish in culture and must consequently be considered as a fundamental factor within any system of aquaculture. A histo-pathological examination of the gills of fish showed the presence of the monogenean attached to the fi laments was causing hyperplasia. The fish showed no signs of bacteria or virus infection. This study reports for the first time the occurrence of massive mortality caused by this monogenean in a tilapia fish farm in the Mexican Pacific and also extends their known geographical distribution.

In this paper, a series of data on archaeological studies carried out in Isla Victoria, Nahuel Huapi National Park, is presented, including unpublished work produced by one of the authors (A. H.) more than 30 years ago, as well as new projects in the area. To date, 30 archaeological sites have been documented on the Island. The excavation of the PT1 site is described and an initial characterization of the recovered materials made. Two occupation events were detected: an initial one ca. 2000 BP, and a late one after ca. 640 BP. Finally, these data are discussed in the context of the available regional information for the last 2000 years BP.

En este trabajo se presentan datos sobre los estudios arqueológicos desarrollados en la Isla Victoria, Parque Nacional Nahuel Huapi. Se incluyen los datos inéditos generados por uno de los autores (A. H.) hace más de 30 años en el marco de los nuevos proyectos y la revisita a los sitios. Hasta el momento, se documentaron 30 sitios arqueológicos en la isla. Se describe la excavación del sitio Puerto Tranquilo 1 (PT1) y se presentan los materiales recuperados y los análisis realizados. Los resultados muestran dos periodos diferenciables en la ocupación del espacio insular, uno inicial, hacia el 2000 AP, y otro tardío, pos 640 AP. Finalmente, se discuten estos datos en relación con la información regional disponible para el Holoceno tardío.

Abstract Cafe-au-lait maculae (CALM) are frequently observed in humans, and usually are present as a solitary spot. Multiple CALMs are present in a smaller fraction of the population and are usually associated with other congenital anomalies as part of many syndromes. Most of these syndromes carry an increased risk of cancer development. Previous studies have indicated that minor congenital anomalies may be more prevalent in children with cancer. We investigated the prevalence of CALMs in two samples of Brazilian patients with childhood solid tumors, totaling 307 individuals. Additionally, 176 school children without diagnosis of cancer, or of a cancer predisposing syndrome, were investigated for the presence of CALMs. The prevalence of solitary CALM was similar in both study groups (18% and 19%) and also in the group of children without cancer. Multiple CALMs were more frequently observed in one of the study groups (Z = 2.1). However, when both groups were analyzed together, the significance disappeared (Z = 1.5). The additional morphological abnormalities in children with multiple CALMs were analyzed and compared to the findings observed in the literature. The nosologic entities associated with CALMs are reviewed.

Abstract Approximately 5-10% of breast cancers are caused by germline mutations in high penetrance predisposition genes. Among these, BRCA1 and BRCA2, which are associated with the Hereditary Breast and Ovarian Cancer (HBOC) syndrome, are the most frequently affected genes. Recent studies confirm that gene rearrangements, especially in BRCA1, are responsible for a significant proportion of mutations in certain populations. In this study we determined the prevalence of BRCA rearrangements in 145 unrelated Brazilian individuals at risk for HBOC syndrome who had not been previously tested for BRCA mutations. Using Multiplex Ligation-dependent Probe Amplification (MLPA) and a specific PCR-based protocol to identify a Portuguese founder BRCA2 mutation, we identified two (1,4%) individuals with germline BRCA1 rearrangements (c.547+240_5193+178del and c.4675+467_5075-990del) and three probands with the c.156_157insAlu founder BRCA2 rearrangement. Furthermore, two families with false positive MLPA results were shown to carry a deleterious point mutation at the probe binding site. This study comprises the largest Brazilian series of HBOC families tested for BRCA1 and BRCA2 rearrangements to date and includes patients from three regions of the country. The overall observed rearrangement frequency of 3.44% indicates that rearrangements are relatively uncommon in the admixed population of Brazil.

El trauma cardiaco constituye una de las primeras causas de mortalidad en la población general. Requiere alto índice de sospecha en trauma cerrado severo, mecanismo de desaceleración y en presencia de signos indirectos como: equimosis, huella del volante o del cinturón en el tórax anterior. Las lesiones incluyen: conmoción cardiaca, ruptura cardiaca, lesión cardiaca indirecta como la trombosis coronaria aguda, lesión aórtica, lesión del pericardio y herniación cardiaca. Entre las manifestaciones clínicas están: la angina refractaria a nitratos, el dolor pleurítico, la hipotensión arterial, la taquicardia, la ingurgitación yugular que aumenta con la inspiración, el galope por tercer ruido, el frote pericárdico, los soplos de reciente aparición, los estertores crepitantes por edema pulmonar. El electrocardiograma es el primer eslabón en el algoritmo diagnóstico con hallazgos como: la taquicardia sinusal, los complejos ventriculares prematuros, la fibrilación auricular, el bloqueo de rama derecha y los bloqueos auriculoventriculares. La radiografía de tórax ayuda a descartar lesiones adicionales óseas y pulmonares. La troponina I tiene un valor predictivo negativo del 93% para el trauma cardiaco, otras enzimas como la creatina quinasa total y la creatina quinasa fracción MB son menos específicas. El ecocardiograma está indicado en caso de hipotensión persistente, electrocardiograma con alteraciones o falla cardiaca aguda. El tratamiento incluye la estabilización inicial y un manejo específico de las lesiones. Entre las complicaciones se incluyen: el taponamiento cardiaco, la contusión miocárdica, el síndrome coronario agudo, las arritmias cardíacas y la lesión aórtica. El pronóstico se determina en mayor medida por los signos vitales al ingreso y la presencia de paro cardiaco durante el abordaje inicial.

Cardiac trauma is one of the primary causes of death amongst general population. It requires a high degree of suspicion of severe blunt trauma, deceleration mechanism and presence of indirect signs, such as ecchymosis and steering wheel or seatbelt marks in the anterior chest wall. Injuries include: cardiac concussion, heart rupture, indirect cardiac injury, such as acute coronary thrombosis, aortic injury, pericardial injury and cardiac herniation. The clinical signs and symptoms include: angina refractory to nitrates, pleuritic pain, hypotension, tachycardia, jugular venous distention that increases on inspiration, S3 gallop, pericardial rub, new murmur or crepitant rales due to pulmonary edema. The electrocardiogram is the first link in the diagnostic algorithm leading to findings such as sinus tachycardia, premature ventricular complexes, atrial fibrillation, right bundle branch block and atrioventricular block. Chest X-rays help to rule out other pulmonary or bone injuries. Troponin I has a negative predictive value of 93% for cardiac trauma; other less specific cardiac enzymes are creatine kinase and creatine kinase-MB. Echocardiogram is indicated in presence of persistent hypotension, abnormal ECG results or acute heart failure. The treatment includes initial stabilization and specific management of the injuries. Some complications may include: cardiac tamponade, myocardial contusion, acute coronary syndrome, cardiac arrhythmias and aortic injury. The prognosis of the patient depends on the vital signs at the time of arrival at the emergency department and the presence of cardiac arrest during the initial approach.