SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.

Genetic epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant disorder with febrile or afebrile seizures that exhibits phenotypic variability. Only a few variants in SCN1A have been previously characterized for GEFS+, in Latin American populations where studies on the genetic and phenotypic spectrum of GEFS+ are scarce. We evaluated members in two multi-generational Colombian Paisa families whose affected members present with classic GEFS+. Exome and Sanger sequencing were used to detect the causal variants in these families. In each of these families, we identified variants in SCN1A causing GEFS+ with incomplete penetrance. In Family 047, we identified a heterozygous variant (c.3530C > G; p.(Pro1177Arg)) that segregates with GEFS+ in 15 affected individuals. In Family 167, we identified a previously unreported variant (c.725A > G; p.(Gln242Arg)) that segregates with the disease in a family with four affected members. Both variants are located in a cytoplasmic loop region in SCN1A and based on our findings the variants are classified as pathogenic and likely pathogenic, respectively. Our results expand the genotypic and phenotypic spectrum associated with SCN1A variants and will aid in improving molecular diagnostics and counseling in Latin American and other populations.

Propuesta de un modelo de la ideación suicida en estudiantes de Medicina en Colombia: un estudio de simulación / Proposal for a Model of Suicidal Ideation in Medical Students in Colombia: A Simulation Study

RESUMEN La conducta suicida es un problema de salud pública mundial, y una población en la que se presentan altos índices de prevalencia es la de estudiantes de Medicina, especialmente en el componente de ideación. Diversos modelos han intentado explicarla, pero son pocos los estudios inferenciales en población colombiana. Los modelos de ecuaciones estructurales utilizados en ciencias sociales resultan apropiados para explicar este problema y su poder analítico permite realizar generalizaciones con cierto grado de precisión. Estos análisis requieren una gran cantidad de datos para una estimación robusta, lo que limita su utilidad cuando hay restricciones para acceder a los datos, como sucede actualmente a causa de la COVID-19, y una cuestión que destaca en estos modelos es la evaluación del ajuste. Mediante un conjunto de 1.200 datos simulados, se encontró un adecuado ajuste del modelo a los datos (x2 524) = 1.732, 300; p< 0, 001; CFI = 0,97; GFI0= 0,97; TLI = 0,97; RMSEA = 0,04 [0,042-0,046]; SRMR = 0,06) para los predictores depresión y carga percibida, cuyos análisis se realizaron en el programa JASP. Se discute el papel de la pertenencia frustrada, la conveniencia del instrumento para evaluarla y consideraciones de seguimiento, evaluación e intervención de la ideación suicida en estudiantes de Medicina. © 2020 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España, S.L.U. Todos los derechos reservados.

ABSTRACT Suicidal behavior is a global public health problem, and one population group with high prevalence rates is medical students, especially in the ideation component. Various models have tried to explain it, but there are few inferential studies in the Colombian population. The structural equation models used in controlled social sciences to explain this problem and their analytical power allow generalizations to be made with a certain degree of precision. These analyses require a large amount of data for robust estimation, which limits their usability when there are restrictions to access the data, as is the case today due to Covid-19, and a question that stands out in these models is the evaluation of the fit. Through a set of 1,200 simulated data, an appropriate model fit was found (x2 524) = 1.732, 300; p< 0, 001, CFI = 0.97, GFI = 0.97, TLI = 0.97, RMSEA = 0.04[0.042-0.046], SRMR = 0.06) for the predictors of depression and perceived burdensomeness, which were analyzed using the JASP pro-gram. The role of thwarted belongingness is discussed, as well as the appropriateness of the assessment instrument used to evaluate it an considerations regarding suicidal ideation monitoring, evaluation and intervention in medical students.

Proposal for a Model of Suicidal Ideation in Medical Students in Colombia: A Simulation Study.

Suicidal behaviour is a global public health problem, and one population group with high prevalence rates is medical students, especially in the ideation component. Various models have tried to explain it, but there are few inferential studies in the Colombian population. The structural equation models used in controlled social sciences to explain this problem and their analytical power allow generalisations to be made with a certain degree of precision. These analyses require a large amount of data for robust estimation, which limits their usability when there are restrictions to access the data, as is the case today due to Covid-19, and a question that stands out in these models is the evaluation of the fit. Through a set of 1,200 simulated data, an appropriate model fit was found (x5242 = 1.732,300, p < 0,001, CFI = 0.97, GFI = 0.97, TLI = 0.97, RMSEA = 0.04[0.042-o.046], SRMR = 0.06) for the predictors of depression and perceived burdensomeness, which were analysed using the JASP program. The role of thwarted belongingness is discussed, as well as the appropriateness of the assessment instrument used to evaluate it an considerations regarding suicidal ideation monitoring, evaluation and intervention in medical students.

Netrin-1 in Glioblastoma Neovascularization: The New Partner in Crime?

Glioblastoma (GBM) is the most aggressive and common primary tumor of the central nervous system. It is characterized by having an infiltrating growth and by the presence of an excessive and aberrant vasculature. Some of the mechanisms that promote this neovascularization are angiogenesis and the transdifferentiation of tumor cells into endothelial cells or pericytes. In all these processes, the release of extracellular microvesicles by tumor cells plays an important role. Tumor cell-derived extracellular microvesicles contain pro-angiogenic molecules such as VEGF, which promote the formation of blood vessels and the recruitment of pericytes that reinforce these structures. The present study summarizes and discusses recent data from different investigations suggesting that Netrin-1, a highly versatile protein recently postulated as a non-canonical angiogenic ligand, could participate in the promotion of neovascularization processes in GBM. The relevance of determining the angiogenic signaling pathways associated with the interaction of Netrin-1 with its receptors is posed. Furthermore, we speculate that this molecule could form part of the microvesicles that favor abnormal tumor vasculature. Based on the studies presented, this review proposes Netrin-1 as a novel biomarker for GBM progression and vascularization.

The Netrin-1-Neogenin-1 signaling axis controls neuroblastoma cell migration via integrin-ß1 and focal adhesion kinase activation.

Neuroblastoma is a highly metastatic tumor that emerges from neural crest cell progenitors. Focal Adhesion Kinase (FAK) is a regulator of cell migration that binds to the receptor Neogenin-1 and is upregulated in neuroblastoma. Here, we show that Netrin-1 ligand binding to Neogenin-1 leads to FAK autophosphorylation and integrin ß1 activation in a FAK dependent manner, thus promoting neuroblastoma cell migration. Moreover, Neogenin-1, which was detected in all tumor stages and was required for neuroblastoma cell migration, was found in a complex with integrin ß1, FAK, and Netrin-1. Importantly, Neogenin-1 promoted neuroblastoma metastases in an immunodeficient mouse model. Taken together, these data show that Neogenin-1 is a metastasis-promoting protein that associates with FAK, activates integrin ß1 and promotes neuroblastoma cell migration.

La mediación sanitaria en Chile / Medical mediation in the international context

Mediation can approximate opposing positions and reach agreements that offer viable solutions for the problems posed by parties. The favorable results, the statements of the professionals and the welfare of the parties who participate in it are some of the reasons for its growth. Its fields of action are diverse, creating a space where the protagonists solve their problems and transform their relationships without having to resort to lengthy and costly legal processes to reach valid agreements. Mediation allows to dejudicialize health care and improve the relationships that are created in all its services. Its implantation in health organizations will favor a more humanized attention by eliminating conflicts, thus elevating the quality and degree of well-being of all the professionals who participate.

[Medical mediation in the international context]. / La mediación sanitaria en Chile.

Mediation can approximate opposing positions and reach agreements that offer viable solutions for the problems posed by parties. The favorable results, the statements of the professionals and the welfare of the parties who participate in it are some of the reasons for its growth. Its fields of action are diverse, creating a space where the protagonists solve their problems and transform their relationships without having to resort to lengthy and costly legal processes to reach valid agreements. Mediation allows to dejudicialize health care and improve the relationships that are created in all its services. Its implantation in health organizations will favor a more humanized attention by eliminating conflicts, thus elevating the quality and degree of well-being of all the professionals who participate.

Proposal for a Model of Suicidal Ideation in Medical Students in Colombia: A Simulation Study. / Propuesta de un modelo de la ideación suicida en estudiantes de Medicina en Colombia: un estudio de simulación.

Suicidal behaviour is a global public health problem, and one population group with high prevalence rates is medical students, especially in the ideation component. Various models have tried to explain it, but there are few inferential studies in the Colombian population. The structural equation models used in controlled social sciences to explain this problem and their analytical power allow generalisations to be made with a certain degree of precision. These analyses require a large amount of data for robust estimation, which limits their usability when there are restrictions to access the data, as is the case today due to Covid-19, and a question that stands out in these models is the evaluation of the fit. Through a set of 1,200 simulated data, an appropriate model fit was found (x5242=1.732,300;p<0,001, CFI = 0.97, GFI = 0.97, TLI = 0.97, RMSEA = 0.04[0.042-0.046], SRMR = 0.06) for the predictors of depression and perceived burdensomeness, which were analysed using the JASP program. The role of thwarted belongingness is discussed, as well as the appropriateness of the assessment instrument used to evaluate it an considerations regarding suicidal ideation monitoring, evaluation and intervention in medical students.

El empowerment desde el emprendimiento social: el caso de los estudiantes del grado trabajo social / Empowerment from social entrepreneurship: the case of Social Work students / O empowerment a través do empreendedorismo social: o caso dos estudantes de ensino superior do Serviço Social

Resumen Introducción. El emprendimiento social está unido al Trabajo Social desde sus orígenes como respuesta creativa a las situaciones de malestar. El Objetivo es mostrar los resultados sobre la percepción que el alumnado tiene sobre la empatía, la creatividad y el emprendimiento social en Trabajo Social, así como las sinergias que se producen entre ellas, para empoderar el emprendimiento social como competencia transversal en los estudiantes del grado de Trabajo Social de la Universidad Complutense de Madrid durante el curso 2016/2017. Materiales y métodos. Se realizaron cuatro grupos de discusión con 33 alumnos de cuarto curso del grado de Trabajo Social con una media de edad de 22 años. El análisis de discurso se realizó con Nvivo©11, a partir de 8 preguntas relacionadas con cuatro dimensiones: empatía, creatividad, emprendimiento social y Trabajo Social. Resultados. La percepción que tiene el alumnado sobre el emprendimiento social en Trabajo Social es que es necesario, lo unen a la creatividad y la empatía como habilidades sociales claves que diferencian al Trabajo Social del resto de profesiones. Conclusiones. El emprendimiento social como competencia general que se ha de visualizar en las asignaturas específicas del grado de Trabajo Social. Así mismo, el aprendizaje del emprendimiento social en Trabajo Social ha de estar reforzado por la investigación en el área de intervención, que va a contribuir a la creación de alternativas reales de apertura e inclusión profesional; mejorándose el posicionamiento de Trabajo Social como disciplina académica y profesional.

Abstract Introduction: Social entrepreneurship is linked to social work from its origins as a creative response to situations of discomfort. Objective: Show the results of the perception that students have about empathy, creativity and social entrepreneurship in Social Work, as well as the synergies that occur among them, to empower social entrepreneurship as a transversal competence in students of fourth year of the Social Work degree at the Complutense University of Madrid during the 2016/2017 academic year. Materials and methods: Four discussion groups were held; the average age of the 33 participants is 22 years. The analysis was conducted with Nvivo © 11, from 8 questions related to four dimensions: empathy, creativity, social entrepreneurship and social work. Results: The perception of students about social entrepreneurship in social work is necessary and is intimately linked to creativity and empathy as key social skills that differentiate social work from the rest. Conclusions: Social entrepreneurship is a competence to be visualized in specific social work subjects, enhanced by applied research and its transformation into real alternatives for creation and professional inclusion, thus improving the positioning of social work as an academic and professional discipline.

Resumo Introdução. O empreendedorismo social está unido ao Serviço Social desde as suas origens como resposta criativa às situações preocupantes. O objetivo é mostrar os resultados sobre a percepção que os alunos tem sob a empatia, a criatividade e o empreendedorismo social no Serviço Social, assim como as sinergias que se produzem entre elas, para empoderar o empreendedorismo social como competência transversal nos estudantes do ensino superior do Serviço Social da Universidade Complutense de Madri durante o curso2016/2017. Materiais e métodos. Realizaram-se quatro turmas de discussão com 33 alunos do quarto curso do ensino superior do Serviço Social com uma média de idade de 22 anos. A análise do discurso realizou-se com Nvivo© 11, a partir de 8 perguntas relacionadas com quatro dimensões: empatia, criatividade, empreendedorismo social e Serviço Social. Resultados. A percepção que tem os alunos sob o empreendedorismo social no Serviço Social é necessário e está ligado à criatividade e a empatia como habilidades sociais chaves que diferenciam ao Serviço Social do resto das profissões. Conclusões. O empreendedorismo social como competência geral a ser visualizada nas áreas específicas do ensino superior do Serviço Social. Igualmente, o aprendido do empreendedorismo social no Serviço Social terá de estar reforçado pela pesquisa na área de intervenção, que vai contribuir à criação de alternativas reais de apertura e inclusão profissional; se melhorando no posicionamento do Serviço Social como disciplina académica e profissional.

The Netrin-4/Laminin γ1/Neogenin-1 complex mediates migration in SK-N-SH neuroblastoma cells.

Neuroblastoma (NB) is the most common pediatric extracranial solid tumor. It arises during development of the sympathetic nervous system. Netrin-4 (NTN4), a laminin-related protein, has been proposed as a key factor to target NB metastasis, although there is controversy about its function. Here, we show that NTN4 is broadly expressed in tumor, stroma and blood vessels of NB patient samples. Furthermore, NTN4 was shown to act as a cell adhesion molecule required for the migration induced by Neogenin-1 (NEO1) in SK-N-SH neuroblastoma cells. Therefore, we propose that NTN4, by forming a ternary complex with Laminin γ1 (LMγ1) and NEO1, acts as an essential extracellular matrix component, which induces the migration of SK-N-SH cells.

The Netrin-4/ Neogenin-1 axis promotes neuroblastoma cell survival and migration.

Neogenin-1 (NEO1) is a transmembrane receptor involved in axonal guidance, angiogenesis, neuronal cell migration and cell death, during both embryonic development and adult homeostasis. It has been described as a dependence receptor, because it promotes cell death in the absence of its ligands (Netrin and Repulsive Guidance Molecule (RGM) families) and cell survival when they are present. Although NEO1 and its ligands are involved in tumor progression, their precise role in tumor cell survival and migration remain unclear. Public databases contain extensive information regarding the expression of NEO1 and its ligands Netrin-1 (NTN1) and Netrin-4 (NTN4) in primary neuroblastoma (NB) tumors. Analysis of this data revealed that patients with high expression levels of both NEO1 and NTN4 have a poor survival rate. Accordingly, our analyses in NB cell lines with different genetic backgrounds revealed that knocking-down NEO1 reduces cell migration, whereas silencing of endogenous NTN4 induced cell death. Conversely, overexpression of NEO1 resulted in higher cell migration in the presence of NTN4, and increased apoptosis in the absence of ligand. Increased apoptosis was prevented when utilizing physiological concentrations of exogenous Netrin-4. Likewise, cell death induced after NTN4 knock-down was rescued when NEO1 was transiently silenced, thus revealing an important role for NEO1 in NB cell survival. In vivo analysis, using the chicken embryo chorioallantoic membrane (CAM) model, showed that NEO1 and endogenous NTN4 are involved in tumor extravasation and metastasis. Our data collectively demonstrate that endogenous NTN4/NEO1 maintain NB growth via both pro-survival and pro-migratory molecular signaling.

[Dyslipidemias in school-age chilean children: prevalence and associated factors]. / DISLIPIDEMIAS EN ESCOLARES CHILENOS: PREVALENCIA Y FACTORES ASOCIADOS.

INTRODUCTION: Dyslipidemias are a key cardiovascular risk factor, and are increased since early childhood. The objective of this study was to describe the prevalence, characteristics of dyslipidemias and associated factors in a population of Chilean children. METHODS: Cross-sectional study done in school-age children from Santiago, Chile (2009-2011). Parents answered questions about family medical history and children answered questions about physical activity. Anthropometry was performed and in a blood sample (12 hours fast) lipid profile, glycemia and insulinemia were measured. RESULTS: We recruited 2900 euglycemic children, 11.4 ± 0.97 years old, 52% girls. According to BMI, 22.5% were overweight and 15,3% had obesity. Considering recommended cut-off points for lipids, 69.3% were in acceptable range, 19.2% at risk and 11.5% at high cardiovascular risk. In total, 32% of the population had any clinical form of dyslipidemia: Isolated hypertriglyceridemia (9.4%), low HDL-C (7.6%), isolated hypercholesterolemia (4.9%), atherogenic dyslipidemia (6.24%) and mixed dyslipidemia (3.9%). Except for isolated hypercholesterolemia, dyslipidemias were more frequent in girls (globally 36.2% vs. 27.4%, p<0.0001). Low HDL-C was associated with sedentary lifestyle. In multiple logistic regression analysis, nutritional status was the most important associated factor, with less influence of age, sex, central obesity, insulin resistance and history of parental cardiovascular risk factors. CONCLUSIONS: In this population of Chilean school-age children, we found a high prevalence of dyslipidemia, and the principal determinant was weight excess.

Introducción: Las dislipidemias son un factor de riesgo cardiovascular clave, en aumento ya desde la niñez. El objetivo de este estudio fue describir la prevalencia, tipo de dislipidemias y factores asociados, en una población de niños chilenos. Métodos: Estudio transversal en escolares de Santiago de Chile (2009-2011). Se realizó antropometría, encuesta de antecedentes familiares a los padres y de actividad física a los niños. En muestra sanguínea de ayunas se midió perfil lipídico, glicemia e insulinemia. Resultados: Se reclutaron 2900 escolares de 11,42±0,97 años de edad, 52% mujeres, todos euglicémicos. Según IMC, 22,5% tenía sobrepeso y 15,3% obesidad. Al considerar los límites recomendados para cada lípido, 69,3% se encontraba en rango aceptable, 19,2% en riesgo y 11,5% en alto riesgo cardiovascular. En total, 32% de la población presentó alguna forma clínica de dislipidemia: Hipertrigliceridemia aislada (9,4%), Bajo C-HDL (7,6%), Hipercolesterolemia aislada (4,9%), Dislipidemia aterogénica (6,24%) y Dislipidemia mixta (3,9%). Excepto la hipercolesterolemia aislada, las demás dislipidemias fueron más frecuentes en las niñas (36,2% vs. 27,4%, p.

Rasgos morfológicos y métricos dentales coronales de premolares superiores e inferiores en escolares de tres instituciones educativas de Cali, Colombia / Morphologics and metric dental crown traits of upper and lower premolars in scholars of Cali, Colombia

El objetivo de este trabajo fue determinar la frecuencia y variabilidad de doce rasgos morfológicos dentales coronales y de dos rasgos métricos dentales coronales en los primeros y segundos premolares superiores (UP1/UP2) e inferiores (LP1/LP2) de 112 modelos de yeso obtenidos de una muestra de jóvenes escolares del municipio de Santiago de Cali. Se trata de un estudio descriptivo transversal cuantitativo que evaluó doce rasgos morfológicos dentales coronales mediante los sistemas ASUDAS (Arizona State University Dental Anthropology System): cresta accesoria mesial, cresta accesoria distal y premolar tricúspide; Higa et al.: tubérculos intersticiales mesial y distal; van Reenen et al.: hipostilo, surco vestibular, cresta central, surco meso-lingual y surco disto-lingual; Hillson: número de cúspides linguales y patrón cuspideo. Y dos rasgos métricos dentales coronales, los dißmetros mesio-distal mediante el método de Moorrees et al. y vestíbulo-palatino (lingual) mediante el de Kieser et al. La frecuencia de los rasgos morfológicos y las dimensiones dentales evidencia que los primeros premolares cuentan con una morfología mucho mas simplificada y dimensiones menores (caninización; mientras que los segundos son mucho mas caracterizados y de mayor tamaño (molarización). La frecuencia de los rasgos morfológicos es ambigua, no presentan dimorfismo sexual y cuentan con bilateralidad en su expresión, a excepción del surco meso-lingual. La correspondencia entre los primeros y segundos premolares superiores e inferiores varía en cada rasgo. Las dimensiones dentales presentan bilateralidad y dimorfismo sexual a excepción de los segundos premolares inferiores. El dendograma obtenido sugiere que la muestra consiste en mestizos con características caucasoides, de fuerte influencia negroide y conservación mongoloide.

The objective is determining the frequency and variability, sexual dimorph, bilateral asymmetry and correspondence between twelve non-metric dental traits and two metric dental traits on the first and second upper and lower premolars in dental casts from 110 subjects from a Colombian racially mixed population. In this descriptive and quantitative study, frequency and variability of twelve non-metric dental crown traits were observed, through the ASUDAS (mesial and distal accessory crest and tricuspid premolar), Higa et al. (mesial and distal interstitial tubercle), van Reenen et al. (hypostile, bucal furrow, transverse ridge, meso-lingual furrow and disto-lingual furrow; and Hillson (lingual cusp number and groove pattern). The frequency of the metric and non-metric dental traits demonstrates that the first premolars present a minor dimensions and simplified morphology (caninization); whereas the second premolars ones are many characterized and of major size (molarization). The frequency of the non-metric dental traits is ambiguous; they do not present sexual dimorphism and present bilateral symmetry, with the exception of the meso-lingual furrow. The correspondence between the first and second upper and lower premolars changes in every trait. The dental dimensions present bilateral symmetry and sexual dimorphism with the exception of the second lower premolars. The dendogram suggests that the sample consists in mixed population with Caucasoid characteristics, negroid influence and mongoloid conservation.

Accurately estimating breast cancer survival in Spain: cross-matching local cancer registries with the National Death Index / Estimación precisa de la supervivencia de cáncer de mama en España: emparejamiento de los registros locales de cáncer con el Índice Nacional de Defunciones

OBJECTIVES: To assess the impact of using data from the National Death Index (NDI) of Spain to estimate breast cancer survival rates among residents of Girona and Zaragoza diagnosed in 1995-1999. METHODS: This was an observational, longitudinal epidemiologic study, using two population- based cancer registries. Data collected were of female residents of Girona or Zaragoza who had been diagnosed with breast cancer in 1995-1999. Observed and relative 5-year survival rates were estimated, first using the information available from the Girona and Zaragoza cancer registries, and then with the inclusion of NDI data. The 5-year relative survival rate and corresponding 95 percent Confidence Intervals were estimated using the Hakulinen method. The Kaplan-Maier method and Log Rank test were used to compare survival curves. RESULTS: No statistically significant difference in survival curves was observed in Girona for the data obtained before and after cross-matching with the NDI. However, there was a significant difference in Zaragoza. A comparison of the relative survival rates of each of the two registries before NDI cross-matching showed differences of 3.9 percent (5-year) and 16.1 percent (10-year) between the two, whereas after the cross-match, the difference was only 0.5 percent (5-year) and 1.2 percent (10-year). CONCLUSIONS: In Spain it is imperative that there be systematic use of NDI data to supplement cancer registries, so that comparisons of relative survival rates between registries can be improved.

OBJETIVO: Evaluar el efecto de utilizar los datos del Índice Nacional de Defunciones (IND) de España para estimar las tasas de supervivencia de cáncer de mama en las mujeres residentes en Girona y Zaragoza que recibieron el diagnóstico de cáncer de mama en 1995-1999. MÉTODOS: Se realizó un estudio epidemiológico observacional y longitudinal basado en el empleo de los registros de cáncer de mujeres residentes en Girona y Zaragoza que habían recibido el diagnóstico de cáncer de mama en 1995-1999. Se estimaron las tasas de supervivencias observada y relativa a 5 años, primero según la información disponible en los registros de cáncer de Girona y Zaragoza y luego con la inclusión de los datos del IND. Se calcularon las tasas de supervivencia relativa a 5 años y sus correspondientes intervalos de confianza de 95 por ciento por el método de Hakulinen. Las curvas de supervivencia se compararon por el método de Kaplan-Maier y la prueba de rangos logarítmicos. RESULTADOS: No se encontraron diferencias estadísticamente significativas entre las curvas de supervivencia de Girona antes y después de emparejar lo datos locales con los del IND; sin embargo, hubo diferencias significativas entre las curvas de Zaragoza. Al comparar las tasas de supervivencia relativa de cada uno de los registros antes de emparejarlos con los datos del IND se encontraron diferencias de 3,9 por ciento (a 5 años) y 16,1 por ciento (a 10 años), mientras que después del emparejamiento, la diferencia entre ellas fue solamente de 0,5 por ciento (a 5 años) y 1,2 por ciento (a 10 años). CONCLUSIONES: En España es imperativo el empleo sistemático de los datos del IND para complementar los registros de cáncer de manera de mejorar las comparaciones de las tasas de supervivencia relativa cuando se utilizan diferentes registros.

Un estudio psicométrico del Hurlbert Index of Sexual Assertiveness en mujeres hispanas / A psychometric study of the Hurlbert Index of Sexual Assertiveness in Hispanic women

La asertividad sexual constituye un factor determinante de la salud sexual que requiere en su evaluación de instrumentos con adecuadas garantías científicas. En este estudio instrumental se analizan algunas propiedades psicométricas del Hurlbert Index of Sexual Assertiveness (HISA) en dos muestras de mujeres hispanas (230 españolas y 300 salvadoreñas) de la población general, con edades comprendidas entre 17 y 70 años, que mantenían una relación de pareja heterosexual desde al menos tres meses. Los resultados encontrados indican que el LUSA constituye una medida unidimensional de la asertividad sexual, presentando una estructura factorial muy similar en ambas muestras y valores de consistencia interna en torno a 0,90, lo que evidencia su estabilidad transcultural. Además, las puntuaciones del LUSA correlacionaron de forma significativa con erotofilia y autostima, lo que aporta indicios sobre la validez de las medidas de la versión española de este instrumento. Se discute la relevancia del LUSA en la evaluación de la asertividad sexual en población hispana.

Sexual assertiveness is a crucial factor in sexual health which requires instruments with adequate scientific guarantees for its assessment. In this instrumental study some of the psychometric properties of Hurlbert Index of Sexual Assertiveness (HISA) were analyzed in two samples of Hispanic women (230 Spanish and 300 Salvadorian) from the general population, with ages between 17 and 70 years old, who maintained a relationship with a heterosexual partner for at least three months. The results indicate that HISA is a one-dimensional measure of sexual assertiveness which presents very similar factorial structure in both samples, and internal consistency values around 0.90 which makes evident its transcultural stability. Additionally, the punctuations from HISA correlate significantly with erotophilia and self-esteem which indicates the validity of the measures of the Spanish version of the instrument. The relevance of HISA in assessment of sexual assertiveness in Hispanic population is discussed.

Epigenetic alterations in human brain tumors in a Brazilian population

Aberrant methylation of CpG islands located in promoter regions represents one of the major mechanisms for silencing cancer-related genes in tumor cells. We determined the frequency of aberrant CpG island methylation for several tumor-associated genes: DAPK, MGMT, p14ARF, p16INK4a, TP73, RB1 and TIMP-3 in 55 brain tumors, consisting of 26 neuroepithelial tumors, 6 peripheral nerve tumors, 13 meningeal tumors and 10 metastatic brain tumors. Aberrant methylation of at least one of the seven genes studied was detected in 83.6 percent of the cases. The frequencies of aberrant methylation were: 40 percent for p14ARF, 38.2 percent for MGMT, 30.9 percent for, p16INK4a, 14.6 percent for TP73 and for TIMP-3, 12.7 percent for DAPK and 1.8 percent for RB1. These data suggest that the hypermethylation observed in the genes p14ARF, MGMT and p16INK4a is a very important event in the formation or progression of brain tumors, since the inactivation of these genes directly interferes with the cell cycle or DNA repair. The altered methylation rate of the other genes has already been reported to be related to tumorigenesis, but the low methylation rate of RB1 found in tumors in our sample is different from that so far reported in the literature, suggesting that perhaps hypermethylation of the promoter is not the main event in the inactivation of this gene. Our results suggest that hypermethylation of the promoter region is a very common event in nervous system tumors.

Operación de Fontan: resultados inmediatos y a mediano plazo con anastomosis cavopulmonar total / Fontan procedure: early and mid-term results wiht total cavopulmonary anastomosis

Background: During the last five years, 65 patients with univentricular heart have been treated surgically in our institution, according to a protocol of staged operations that have been previously reported. Aim: To evaluate the early and mid-term outcome of those patients that have completed their staging protocol by means of a Fontan procedure. Patients and Methods: Between April 1996 and June 2001, 23 patients (age 16 to 223 months) underwent a Fontan procedure, 15 with an intracardiac lateral tunnel technique and 8 with an extracardiac conduit. A retrospective review of their clinical, surgical, echocardiographic, angiographic and hemodynamic data was performed, trying to identify risk factors for both mortality and functional capacity (FC). Follow up was complete in all survivors. Results: Three patients died early after surgery (13.04 percent). Excessive pulmonary blood flow was a risk factor for early death (p= 0.03). One patient died at 14 months. Follow up was 29.9 months (1-63). For those who survived the operation, five years survival was 93.3 percent. The majority of patients are in FC I or II, with no related risk factors. Conclusions: Our current results are comparable with those of larger series. Patients reach good FC and mid-term survival, irrespective of type of single ventricle or the surgical strategy

Artritis reumatoide juvenil: Recomendaciones preliminares para la utilizacion de bloqueadores del factor de necrosis tumoral / Juvenil rheumatoid arthritis

En este artículo hacemos una revisión extensa sobre la artritis reumatoide juvenil (ARJ), su curso clínico, el impacto de la enfermedad, las clases funcionales, el tratamiento, el pronóstico y la utilización de agentes biológicos. Se hacen las recomendaciones preliminares para la utilización de bloqueadores del factor de necrosis tumoral