A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America

Background: Genetic counselling and testing for Lynch syndrome (LS) have recently been introduced in several Latin America countries. We aimed to characterize the clinical, molecular and mismatch repair (MMR) variants spectrum of patients with suspected LS in Latin America. Methods: Eleven LS hereditary cancer registries and 34 published LS databases were used to identify unrelated families that fulfilled the Amsterdam II (AMSII) criteria and/or the Bethesda guidelines or suggestive of a dominant colorectal (CRC) inheritance syndrome. Results: We performed a thorough investigation of 15 countries and identified 6 countries where germline genetic testing for LS is available and 3 countries where tumor testing is used in the LS diagnosis. The spectrum of pathogenic MMR variants included MLH1 up to 54%, MSH2 up to 43%, MSH6 up to 10%, PMS2 up to 3% and EPCAM up to 0.8%. The Latin America MMR spectrum is broad with a total of 220 different variants which 80% were private and 20% were recurrent. Frequent regions included exons 11 of MLH1 (15%), exon 3 and 7 of MSH2 (17 and 15%, respectively), exon 4 of MSH6 (65%), exons 11 and 13 of PMS2 (31% and 23%, respectively). Sixteen international founder variants in MLH1, MSH2 and MSH6 were identified and 41 (19%) variants have not previously been reported, thus representing novel genetic variants in the MMR genes. The AMSII criteria was the most used clinical criteria to identify pathogenic MMR carriers although microsatellite instability, immunohistochemistry and family history are still the primary methods in several countries where no genetic testing for LS is available yet. Conclusion: The Latin America LS pathogenic MMR variants spectrum included new variants, frequently altered genetic regions and potential founder effects, emphasizing the relevance implementing Lynch syndrome genetic testing and counseling in all of Latin America countries.Radium Hospital Foundation (Oslo, Norway) in the design of the study and collection, analysis, and interpretation of data and in writing the manuscript, Helse Sør-Øst (Norway) in the design of the study and collection, analysis, and interpretation of data and in writing the manuscript, the French Association Recherche contre le Cancer (ARC) in the analysis, and interpretation of data, the Groupement des Entreprises Françaises dans la Lutte contre le Cancer (Gefluc) in the analysis, and interpretation of data, the Association Nationale de la Recherche et de la Technologie (ANRT, CIFRE PhD fellowship to H.T.) in the analysis, and interpretation of data and by the OpenHealth Institute in the analysis, and interpretation of data. Barretos Cancer Hospital received financial support by FINEP-CT-INFRA (02/2010)info:eu-repo/semantics/publishedVersio

A list of land plants of Parque Nacional do Caparaó, Brazil, highlights the presence of sampling gaps within this protected area

Brazilian protected areas are essential for plant conservation in the Atlantic Forest domain, one of the 36 global biodiversity hotspots. A major challenge for improving conservation actions is to know the plant richness, protected by these areas. Online databases offer an accessible way to build plant species lists and to provide relevant information about biodiversity. A list of land plants of “Parque Nacional do Caparaó” (PNC) was previously built using online databases and published on the website "Catálogo de Plantas das Unidades de Conservação do Brasil." Here, we provide and discuss additional information about plant species richness, endemism and conservation in the PNC that could not be included in the List. We documented 1,791 species of land plants as occurring in PNC, of which 63 are cited as threatened (CR, EN or VU) by the Brazilian National Red List, seven as data deficient (DD) and five as priorities for conservation. Fifity-one species were possible new ocurrences for ES and MG states

Drug-induced anaphylaxis, elicitors, risk factors, and management in Latin America

Nonsteroidal anti-inflammatory drugs were the most frequent triggers of drug-induced anaphylaxis in Latín America, whereas antibiotics elicited faster onset and more scvere reactions. An improvement was observed in epinephrinc use and adherence to guidelines in the emergency department treatment of anaphylaxis in Latín America compared with our last report.Facultad de Ciencias Médica

Optimasi Portofolio Resiko Menggunakan Model Markowitz MVO Dikaitkan dengan Keterbatasan Manusia dalam Memprediksi Masa Depan dalam Perspektif Al-Qur`an

Risk portfolio on modern finance has become increasingly technical, requiring the use of sophisticated mathematical tools in both research and practice. Since companies cannot insure themselves completely against risk, as human incompetence in predicting the future precisely that written in Al-Quran surah Luqman verse 34, they have to manage it to yield an optimal portfolio. The objective here is to minimize the variance among all portfolios, or alternatively, to maximize expected return among all portfolios that has at least a certain expected return. Furthermore, this study focuses on optimizing risk portfolio so called Markowitz MVO (Mean-Variance Optimization). Some theoretical frameworks for analysis are arithmetic mean, geometric mean, variance, covariance, linear programming, and quadratic programming. Moreover, finding a minimum variance portfolio produces a convex quadratic programming, that is minimizing the objective function ðð¥with constraintsð ð 𥠥 ðandð´ð¥ = ð. The outcome of this research is the solution of optimal risk portofolio in some investments that could be finished smoothly using MATLAB R2007b software together with its graphic analysis

Search for supersymmetry in events with one lepton and multiple jets in proton-proton collisions at root s=13 TeV

Peer reviewe

Search for anomalous couplings in boosted WW/WZ -> l nu q(q)over-bar production in proton-proton collisions at root s=8TeV

Peer reviewe

Familial Breast Cancer in Costa Rica: An Initial Approach

Cancer is a worldwide problem because of its high rates of incidence and associated mortality. By 2000, more than 6.2 million people died from this illness worldwide. Among all types of cancer, breast cancer is one of the most studied. Each year, one million new cases are diagnosed around the world. We can classify breast cancer into two main kinds: sporadic cases and those which are a product of inherited genetic alterations. Approximately 5-10% of breast cancer cases are the result of inherited mutations, or alterations in breast cancer susceptibility genes, BRCA1 and BRCA2. Like other countries, Costa Rica possesses high rates of incidence and mortality for breast cancer. According to the "Registro Nacional de Tumores" (National Office of Tumor Records), in 2000 breast cancer had the highest rate of incidence and in 2002 it had the highest rate of mortality in comparison to other types of cancer. For this reason and the generalized lack of knowledge in the field we conducted an epidemiological research on breast cancer patients from Hospital San Juan de Dios, San José, Costa Rica, to find families with a history of breast cancer, and to determine the occurrence of familial cases within the population studied. So far, we have found 23 families, within which we discovered very informative cases that have rendered the identification of a pattern of inheritance. These findings allow us to announce that in Costa Rica there are several cases of inherited breast cancer and that we need more research is needed to improve the prevention, control, and treatment of this disease. Rev. Biol. Trop. 52(3): 531-536. Epub 2004 Dic 15.El cáncer es un problema a nivel mundial porque posee altas tasas de incidencia y mortalidad. Para el año 2000 más de 6.2 millones de personas murieron a causa de esta enfermedad. El cáncer de mama es uno de los tipos de cáncer más estudiados en el mundo por las mismas razones. Cada año, se diagnostican más de un millón de casos nuevos de cáncer de mama alrededor del mundo. Podemos clasificar al cáncer de mama en dos tipos principales: los casos esporádicos y los que son producto de alteraciones genéticas heredables. De todos los casos que son diagnosticados en la población, aproximadamente de un 5 a un 10 % son resultado de mutaciones heredadas o alteraciones en los genes de susceptibilidad BRCA1 y BRCA2. Como en otros países, Costa Rica posee altas tasas de incidencia y mortalidad para el cáncer de mama. Según el Registro Nacional de Tumores para el año 2000 el cáncer de mama tuvo la tasa de incidencia más alta y para el 2002 alcanzó la tasa de mortalidad más alta en comparación con otros tipos de cáncer. Por esta razón y por la falta de conocimiento existente decidimos realizar un estudio epidemiológico de los pacientes con cáncer de mama del Hospital San Juan de Dios para encontrar familias con un historial de cáncer de mama y determinar la existencia de casos de cáncer de mama familiares en esta población. Hemos encontrado 23 familias dentro de las cuales hayamos casos informativos que nos han permitido identificar un patrón de herencia. Estos hallazgos nos permiten afirmar que en Costa Rica se dan casos de cáncer de mama heredados y que necesitamos más investigación para mejorar el tratamiento de los pacientes que sufren de cáncer de mama

Familial Breast Cancer in Costa Rica: An Initial Approach

Cancer is a worldwide problem because of its high rates of incidence and associated mortality. By 2000, more than 6.2 million people died from this illness worldwide. Among all types of cancer, breast cancer is one of the most studied. Each year, one million new cases are diagnosed around the world. We can classify breast cancer into two main kinds: sporadic cases and those which are a product of inherited genetic alterations. Approximately 5-10% of breast cancer cases are the result of inherited mutations, or alterations in breast cancer susceptibility genes, BRCA1 and BRCA2. Like other countries, Costa Rica possesses high rates of incidence and mortality for breast cancer. According to the “Registro Nacional de Tumores” (National Office of Tumor Records), in 2000 breast cancer had the highest rate of incidence and in 2002 it had the highest rate of mortality in comparison to other types of cancer. For this reason and the generalized lack of knowledge in the field we conducted an epidemiological research on breast cancer patients from Hospital San Juan de Dios, San José, Costa Rica, to find families with a history of breast cancer, and to determine the occurrence of familial cases within the population studied. So far, we have found 23 families, within which we discovered very informative cases that have rendered the identification of a pattern of inheritance. These findings allow us to announce that in Costa Rica there are several cases of inherited breast cancer and that we need more research is needed to improve the prevention, control, and treatment of this disease.El cáncer es un problema a nivel mundial porque posee altas tasas de incidencia y mortalidad. Para el año 2000 más de 6.2 millones de personas murieron a causa de esta enfermedad. El cáncer de mama es uno de los tipos de cáncer más estudiados en el mundo por las mismas razones. Cada año, se diagnostican más de un millón de casos nuevos de cáncer de mama alrededor del mundo. Podemos clasificar al cáncer de mama en dos tipos principales: los casos esporádicos y los que son producto de alteraciones genéticas heredables. De todos los casos que son diagnosticados en la población, aproximadamente de un 5 a un 10 % son resultado de mutaciones heredadas o alteraciones en los genes de susceptibilidad BRCA1 y BRCA2. Como en otros países, Costa Rica posee altas tasas de incidencia y mortalidad para el cáncer de mama. Según el Registro Nacional de Tumores para el año 2000 el cáncer de mama tuvo la tasa de incidencia más alta y para el 2002 alcanzó la tasa de mortalidad más alta en comparación con otros tipos de cáncer. Por esta razón y por la falta de conocimiento existente decidimos realizar un estudio epidemiológico de los pacientes con cáncer de mama del Hospital San Juan de Dios para encontrar familias con un historial de cáncer de mama y determinar la existencia de casos de cáncer de mama familiares en esta población. Hemos encontrado 23 familias dentro de las cuales hayamos casos informativos que nos han permitido identificar un patrón de herencia. Estos hallazgos nos permiten afirmar que en Costa Rica se dan casos de cáncer de mama heredados y que necesitamos más investigación para mejorar el tratamiento de los pacientes que sufren de cáncer de mama

Expression Profiling of Virulence and Pathogenicity Genes of Xanthomonas axonopodis pv. citri

DNA macroarrays of 279 genes of Xanthomonas axonopodis pv. citri potentially associated with pathogenicity and virulence were used to compare the transcriptional alterations of this bacterium in response to two synthetic media. Data analysis indicated that 31 genes were up-regulated by synthetic medium XVM2, while only 7 genes were repressed. The results suggest that XVM2 could be used as an in vitro system to identify candidate genes involved in pathogenesis of X. axonopodis pv. citri