Fas cell surface death receptor/Fas ligand genetic variants in gastric cancer patients: A case-control study

Background & objectives: Various studies have suggested a correlation between Fas cell surface death receptor/Fas ligand (FAS/FASL) variants and multiple types of cancers. The present study aimed to investigate the association between FAS-670A/G and FASL-844C/T and the synergistic effects of both variants on the risk of gastric cancer (GC) in the Kurdish population of west of Iran. Methods: This study was conducted by polymerase chain reaction-restriction fragment length polymorphism technique using MvaI and BsrDI restriction enzymes in 98 GC patients and 103 healthy control individuals. Results: According to the obtained results, a significant association (P=0.008) of FASL polymorphism among GC patients and the control group was detected. Furthermore, no significant differences were found in the FAS polymorphism frequencies between GC patients and the control group. Codominant and dominant models in FASL polymorphism showed significant protective effects against GC [odds ratio (OR)=0.307, 95% confidence interval (CI) (0.134-0.705), P=0.005; OR=0.205, 95% CI (0.058-0.718), P=0.013 and OR=0.295, 95% CI (0.129-0.673), P=0.004 for models of codominant CC vs. CT, codominant CC vs. TT and dominant, respectively]. Furthermore, the presence of both FAS-670G and FASL-844T alleles represented a significant protective effect against GC occurrence [OR=0.420, 95% CI (0.181-0.975), P=0.043]. Interpretation & conclusions: So far, we believe this is the first study, the results of which suggest that FASL gene variation and its synergistic effects with FAS gene could be associated with the risk of GC in the Kurdish population in the west of Iran

A bibliometria no GT 11 ­ Informação & Saúde ­ do Enancib / Bibliometrics in Enancib's WG 11 - Information & Health / La bibliometría en el GT 11 ­ Información & Salud ­ del Enancib

No Enancib (Encontro Nacional de Pesquisa em Ciência da Informação), o Grupo de Trabalho (GT)11 ­ Informação & Saúde, criado em 2011, é responsável pelo estudo das teorias, métodos, estruturas e processos informacionais em diferentes contextos da saúde. O objetivo deste artigo é apresentar trabalhos do GT 11 que apontam a bibliometria como seu aporte teórico-metodológico, de modo a conhecer algumas características de tal comunidade, ainda em bases quantitativas nesta etapa. Trata-se de uma pesquisa de abordagem descritiva e bibliométrica, com levantamento no Benancib (de 2011 a 2016) e nos anais dos Enancib (de 2017 a 2019). Para escolha dos termos, foi utilizado o Tesauro Brasileiro de Ciência da Informação. Encontraram-se 23 trabalhos, 40 autores, 60 palavras-chave e 385 referências. A vida média com base na obsolescência da literatura a partir de 2005 foi de 14 anos. Percebe-se que a bibliometria e os estudos métricos nos trabalhos do GT 11 são mencionados com frequência, o que poderia explicar as eventuais ausências de definição e discussão de tais métodos. Este estudo aponta a necessidade de combiná-lo com outras metodologias para contextualizar os indicadores apresentados.

In Enancib ­ Encontro Nacional de Pesquisa em Ciência da Informação (National information science research conference), the Workgroup (WG) 11 - Information & Health, created in 2011, is responsible for the study of information theories, methods, structures, and processes in different health contexts. This article aims to present works of the WG 11 that point out bibliometrics as its theoretical-methodological contribution, in order to know some characteristics of that community based on quantitative studies in this phase. The research has descriptive and bibliometric approach, based on a search in Benancib (from 2011 to 2016) and in the annals of Enancib (from 2017 to 2019). The Tesauro Brasileiro de Ciência da Informação (Brazilian Thesaurus of Information Science) was consulted to select the terms. Twenty-three papers, 40 authors, 60 keywords and 385 references were found. The average life based on literature obsolescence from 2005 was 14 years. We can see that bibliometrics and metric studies in the works of the WG 11 are often mentioned, which could explain the possible lack of definition and discussion of such methods. This study points out the need to combine it with other methodologies to contextualize the indicators presented.

En Enancib ­ Encontro Nacional de Pesquisa em Ciência da Informação (Reunión nacional de investigación en ciencias de la información), el Grupo de Trabajo 11 - Información y Salud, creado en 2011, es responsable del estudio de las teorías, métodos, estructuras y procesos de la información en diferentes contextos de la salud. Este artículo tiene como objetivo presentar trabajos del GT 11 que señalan a la bibliometría como su aporte teórico-metodológico, con el fin de conocer algunas características de esa comunidad, aun en basis quantitativa en esta etapa. La investigación tiene enfoque descriptivo y bibliométrico, basado en una búsqueda en Benancib (desde 2011 hasta 2016) y en los anales de Enancib (desde 2017 hasta 2019). Para seleccionar los términos se consultó al Tesauro Brasileiro de Ciência da Informação (Tesauro Brasileño de Ciencia de la Información). Se encontraron 23 artículos, 40 autores, 60 palabras clave y 385 referencias.La vida media basada en la obsolescencia de la literatura desde 2005 fue de 14 años. Se observa que la bibliometría y los estudios métricos en los trabajos del GT 11 se mencionan con frecuencia, lo que podría explicar la posible falta de definición y discusión de tales métodos. Este estudio señala la necesidad de combinarlo con otras metodologías para contextualizar los indicadores presentados.

Potasio elevado, sin T picuda / High pot but no T

Introducción. La identificación y el tratamiento de pacientes con hiperpotasemia son necesarios para prevenir el desarrollo de arritmias. La pseudohiperpotasemia se debe más comúnmente a la hemólisis de la muestra y a menudo es reconocida por los laboratoristas que posteriormente informan los resultados de las pruebas con advertencias de precaución. Los autores presentan un caso de pseudohiperpotasemia en un paciente con leucemia linfocítica crónica. Reporte de caso: los factores técnicos y el método de transporte son una causa potencial de pseudohiperpotasemia. La pseudohiperpotasemia se ha asociado también con hiperleucoctosis, en poblaciones de pacientes con cáncer, más comúnmente en Leucemia linfocítica crónica en adultos, pero también con leucemia linfoblástica aguda en niños. Esto pone al paciente en riesgo de tratamientos innecesarios y potencialmente peligrosos. Conclusión: Los médicos deben considerar la pseudohiperpotasemia como la causa subyacente de los niveles elevados de potasio en pacientes con leucocitosis maligna que no presentan signos o síntomas de hiperpotasemia sistémica.

Introduction. The identification and treatment of patients with hyperkalemia is necessary to prevent the development of arrhythmias. Pseudohyperkalemia is most commonly due to specimen haemolysis and is often recognised by laboratory scientists who subsequently report test results with cautionary warnings. The authors present a case of pseudohyperkalemia in a patient with chronic lymphocytic leukaemia. Report case: the technical factors and method of transport are a potential cause of pseudohyperkalemia. Pseudohyperkalemia has been associated with hyperleukoctosis, in cancer patient populations, more commonly in CLL in adults, but also acute lymphoblastics leukemia in children. This places the patient at risk of unnecessary and potentially dangerous treatments. Conclusion: Physicians should consider pseudohyperkalemia as the underlying cause of elevated potassium levels in patients with malignant leucocytosis who do not have signs or symptom of systemic hyperkalemia.

Frecuencias genotípicas en Niños con Leucemia Linfoblástica Aguda en dos centros Oncológicos / Genotypic frequencies in Children with Acute Lymphoblastic Leukemia in two Oncology centers

Introducción: La leucemia linfoblásticaaguda (LLA) es una de las oncopatologías más frecuentes a nivel infantil, ocupando el primer lugar de los cincos tipos de cáncer con mayor incidencia en Ecuador. El objetivodel estudio fue determinar las frecuencias genotípicas y alélicas delos polimorfismos genéticos de MTHFR 677C>T (rs1801133) y MTHFR 1298A>C(rs1801131) en niños con leucemia linfoblástica aguda de SOLCA ­Loja y SOLCA ­Cuenca. Métodos:Es un estudio transversal, donde se evaluó a 160 pacientes pediátricosdiagnosticados con LLA. La detección de lospolimorfismos MTHFR 677C>T y 1298A>C se realizó mediante la técnica PCR entiempo real. El análisis estadístico descriptivo se desarrolló a través del software IBM SPSS (versión 22) y el programa bioinformático SNPStats. Resultados: Se determinóque las frecuencias genotípicas para el SNP MTHFR 677C>T fueron 25% C/C y 75%C/T con una frecuencia alélica del 38% para el alelo mutado (T). Para el SNP MTHFR1298 A>C se encontró una frecuencia genotípica de 2% A/A, 16% A/C y 82% C/C, entanto que su frecuencia alélica fue del 90% para el alelo mutado (C). No se encontróasociación genotípica ni alélica con ninguna de las variables intervinientes (p>0.05),así como tampoco se manifestó una correlación estadísticamente significativa de lospolimorfismos en mención y el tipo de riesgo de LLA. Conclusión:En la población estudiada con LLA, se evidenció para el SNP de MTHFR 677C>T una frecuencia genotípica del 75% para el heterocigoto C/T. Para el SNP MTHFR 1298A>C se encontró una frecuencia genotípica del 82% para el homocigoto mutado C/C. La distribución de la frecuencia alélica se mostró de la siguiente manera: para MTHFR 677C>T se obtuvo 38% para el alelo mutado T y en cuanto a MTHFR 1298 A>C, 90% correspondió para el alelo mutado C. En el análisis estadístico no se encontró asociación genotípica ni alélica con las variablesdemográficas y clínicas

Introduction:Acute lymphoblastic leukemia (ALL) is one of the most frequent oncopathologiesin childhood, occupying the first place of the five types of cancer with the highest incidence in Ecuador. The objective of the study was to determine the genotypic and allelic frequencies of the genetic polymorphisms of MTHFR 677C> T (rs1801133) and MTHFR 1298A> C (rs1801131) in children with acute lymphoblastic leukemia from SOLCA -Loja and SOLCA -Cuenca. Methods: It is a cross-sectional study, where 160 pediatric patients diagnosed with ALL were evaluated. The detection of MTHFR 677C> T and 1298A> C polymorphisms was performed using the real-time PCR technique. The descriptive statistical analysis was developed using the IBM SPSS software (version 22) and the SNPStats bioinformatics program. Results: It was determined that the genotype frequencies for the SNP MTHFR 677C> T were 25% C / C and 75% C / T with an allele frequency of 38% for the mutated allele (T). For the SNP MTHFR 1298 A> C, a genotype frequency of 2% A / A, 16% A / C and 82% C / C was found, while its allelic frequency was 90% for the mutated allele (C). No genotypic or allelic association was found with any of the intervening variables (p> 0.05), as well as no statistically significant correlation of the mentioned polymorphisms and the type of risk of ALL. Conclusion: In the population studied with ALL, a genotypic frequency of 75% was evidenced for the MTHFR 677C> T SNP for the heterozygous C / T. For the SNP MTHFR 1298A> C, a genotypic frequency of 82% was found for the homozygous mutated C / C. The allelic frequency distribution was shown as follows: for MTHFR 677C> T, 38% was obtained for the mutated allele T and for MTHFR 1298 A> C, 90% corresponded to the mutated allele C. In the statistical analysis No genotypic or allelic association was found with demographic and clinical variables

Distribution characteristics of polymorphism of miRNA-107 gene in Guangxi population and their association with serum lipid levels / 解剖学报

Objective To study the distribution characteristics of single nucleotide polymorphisms (SNP) of miR-107 gene rs2296616 C/T in Guangxi healthy population and comparison with that in different ethnic populations, and further to explore the correlation between rs2296616 C/T SNP and blood lipid level. Methods The polymorphisms of miR-107 gene rs2296616 C/T among 372 Chinese healthy individuals of Guangxi were detected by multiplex SNaPshot and DNA sequencing method, and the blood lipid-related indexes were detected by 7600 biochemical analyzer. The distribution of rs2296616 C/T polymorphism among different ethnic groups and the differences of blood lipid levels among different genotypes were compared by statistical method . Results MiR-107 gene rs2296616 C/T SNP contained TT(91. 1%), CT (8. 9%)genotypes and T(95. 6%), C(4. 4%)alleles in Guangxi healthy population. The frequencies of genotype and allele distribution of rs2296616 C/T were not significantly different among genders in Guangxi population(P>0. 05). However, there were significant differences in the genotype and allele frequency of miR-107 gene rs2296616 C/T in Guangxi healthy population compared with those of Europeans, Japanese, Africans, Mexicans and Indians published in HapMap(P 0. 05). When compared the blood lipid level among two genotypes in rs2296616 C/T, we found that the level of high density lipoprotein cholesterol(HDL-C) with TT genotype was significantly different from that of CT group (P < 0. 05) . Conclusion There are different degrees of variation in the polymorphisms of rs2296616 C / T of miR-107 gene between Guangxi people and other ethnic populations. The polymorphism of rs2296616 C / T locus is related to the level of HDL-C.

Effect of ABCB1 3435C>T transporter gene polymorphism on plasma efavirenz concentration in HIV-1 infected Thai adults

Objective: To investigate the influence of ABCB1 polymorphisms on the plasma level of efavirenz in Thai adult cases infected with HIV-1. Methods: A single nucleotide polymorphism of ABCB1 3435C>T (rs1045642) in the gene encoding ABCB1 was genotyped using real-time PCR-based alleles in 149 HIV-infected Thai adults receiving efavirenz treatment. Plasma concentrations of efavirenz were measured by high-performance liquid chromatography 12 hr after administration. The relationship between plasma efavirenz concentrations and ABCB1 3435C>T polymorphisms was analyzed. Results: Logistic regression analysis showed no significant predictors of high plasma efavirenz concentration in relation to age, gender, body weight, CD4 count and plasma HIV-1 RNA, blood biochemical parameters, antiretroviral duration or ABCB1 3435C>T polymorphisms, except for height (OR=0.902, 95% CI: 0.835-0.973) (PT was 0.446. The frequency of the heterozygous mutant ABCB1 3435C/ T was 53.02% (n=79), ABCB1 3435T/T homozygous mutant was 18.12% (n=27) and the wild type ABCB1 3435C/C genotype was 28.86% (n=43). The overall median plasma concentration of efavirenz in 149 HIV-infected Thai cases was 2.41 mg/L [IQR: (1.46-4.12) mg/L]. The plasma concentration of efavirenz was higher in cases with ABCB1 3435T/T homozygous mutant [2.73 mg/L, IQR: (2.02-4.19) mg/L] and ABCB1 3435C/T heterozygous mutant [2.29 mg/L, IQR: (1.41-4.28) mg/L] genotypes compared to the wild type ABCB1 3435C/C homozygous [2.1 mg/L, IQR: (1.37-3.53) mg/L]. However, there was no statistically significant difference in the efavirenz concentration between the different genotypes (P>0.05). Conclusions: There is no statistical significance for a tendency toward higher plasma efavirenz concentration in the ABCB1 3435T/T and ABCB1 3435C/T genotypes. No parameters of physiological characteristics in this study except for height were found to be predictors of high plasma efavirenz concentration in Thai HIV-1 infected cases.

Effect of ABCB1 3435C>T transporter gene polymorphism on plasma efavirenz concentration in HIV-1 infected Thai adults

Objective: To investigate the influence of ABCB1 polymorphisms on the plasma level of efavirenz in Thai adult cases infected with HIV-1. Methods: A single nucleotide polymorphism of ABCB1 3435C>T (rs1045642) in the gene encoding ABCB1 was genotyped using real-time PCR-based alleles in 149 HIV-infected Thai adults receiving efavirenz treatment. Plasma concentrations of efavirenz were measured by high-performance liquid chromatography 12 hr after administration. The relationship between plasma efavirenz concentrations and ABCB1 3435C>T polymorphisms was analyzed. Results: Logistic regression analysis showed no significant predictors of high plasma efavirenz concentration in relation to age, gender, body weight, CD4 count and plasma HIV-1 RNA, blood biochemical parameters, antiretroviral duration or ABCB1 3435C>T polymorphisms, except for height (OR=0.902, 95% CI: 0.835-0.973) (PT was 0.446. The frequency of the heterozygous mutant ABCB1 3435C/ T was 53.02% (n=79), ABCB1 3435T/T homozygous mutant was 18.12% (n=27) and the wild type ABCB1 3435C/C genotype was 28.86% (n=43). The overall median plasma concentration of efavirenz in 149 HIV-infected Thai cases was 2.41 mg/L [IQR: (1.46-4.12) mg/L]. The plasma concentration of efavirenz was higher in cases with ABCB1 3435T/T homozygous mutant [2.73 mg/L, IQR: (2.02-4.19) mg/L] and ABCB1 3435C/T heterozygous mutant [2.29 mg/L, IQR: (1.41-4.28) mg/L] genotypes compared to the wild type ABCB1 3435C/C homozygous [2.1 mg/L, IQR: (1.37-3.53) mg/L]. However, there was no statistically significant difference in the efavirenz concentration between the different genotypes (P>0.05). Conclusions: There is no statistical significance for a tendency toward higher plasma efavirenz concentration in the ABCB1 3435T/T and ABCB1 3435C/T genotypes. No parameters of physiological characteristics in this study except for height were found to be predictors of high plasma efavirenz concentration in Thai HIV-1 infected cases.

Perfil genômico da síndrome do xeroderma pigmentoso no Brasil: avaliação de alterações germinativas e somáticas / Genomic profile of xeroderma pigmentosum syndrome in Brazil: assessment of germline and somatic alterations

A síndrome do Xeroderma Pigmentoso (XP) ocorre frente à herança monogênica e bialélica de variantes germinativas patogênicas de perda ou redução de função em genes das vias de reparo por excisão de nucleotídeos ou síntese translesão. Consequentemente, é estabelecida deficiência na correção de lesões induzidas, principalmente por radiação ultravioleta, favorecendo alta sensibilidade à radiação solar e risco aumentado para o desenvolvimento de múltiplas lesões cutâneas pré-malignas e malignas. Visto que a heterogeneidade na manifestação clínica da síndrome é uma questão em discussão na literatura, para investigar este aspecto propusemos avaliar o perfil de variantes germinativas e variantes somáticas de tumores cutâneos e não cutâneos de indivíduos portadores de XP. Foi realizado o sequenciamento de alto desempenho utilizando a plataforma NextSeq (Illumina) para avaliar as regiões codificantes de 114 genes selecionados pela sua relevância em desordens dermatológicas, tumorigênese e fisiologia cutânea e resposta de dano ao DNA. Seis pacientes com fenótipo clínico da síndrome do XP e portadores de variantes germinativas clinicamente relevantes nos genes XPC ou POLH/XPV foram avaliados no estudo. Variantes germinativas de significado incerto foram identificadas, em heterozigose, no DNA de leucócito de cinco dos seis pacientes avaliados ocorrendo nos genes DNAH11, PCDHB3, RGS22, SLC27A5, TTN e UGT2B10 e nenhuma das variantes identificadas apresentou perda de heterozigose do alelo selvagem nos tecidos tumorais. O polimorfismo de risco para carcinoma basocelular de pele (CBC) rs3769823[A] no gene CASP8 não foi identificado em apenas um caso do estudo, o qual desenvolveu o menor número de tumores. O polimorfismo de risco rs1126809[A] no gene TYR foi detectado apenas no caso que apresentou o maior número de CBC. Amostras de DNA de nove CBCs de tecido armazenado em parafina e duas amostras de tumor gástrico de uma mesma peça cirúrgica, de tecido armazenado em parafina e congelado a fresco, foram avaliadas de forma pareada com o DNA de leucócito correspondente, para pesquisa de variantes somáticas. Variantes somáticas não foram identificadas na amostra de CBC da paciente XP-C com fenótipo menos agressivo da síndrome. O total de 235 variantes missense e 29 variantes de perda de função foram identificadas em 71 genes para sete amostras de CBC, mínimo de 11 e máximo de 127 variantes por amostra, com 85,2% destas apresentando frequência alélica ≥20%. Com exceção de um CBC, mais de 95% das variantes somáticas identificadas representam alterações tipicamente fotoinduzidas (C:G>T:A e G:C>T:A). Embora pacientes XP acumulem maior número de mutações devido deficiência no mecanismo de reparo, não observamos carga mutacional diferente do observado em CBCs esporádicos. Vinte e sete genes apresentaram variantes somáticas em mais de uma amostra de CBC. Nenhum gene foi compartilhado entre as sete amostras de CBC. Entre os genes alterados em maior número de tumores estão incluídos genes drivers de CBC (LATS1, NOTCH2, PTCH1, PTPN14 e TP53), bem como genes não clássicos na carcinogênese do CBC (APC, FLG e TTN). Uma variante driver em SMO foi recorrente em três CBCs de um mesmo paciente. Duas variantes somáticas foram identificadas no tumor gástrico de tecido congelado a fresco ocorrendo nos genes GLI3 e RB1, não sendo as mesmas detectadas no tecido armazenado em parafina. Nesse trabalho, ressalta-se a heterogeneidade na manifestação clínica da síndrome do XP e a identificação de dois polimorfismos de risco, bem como destaca-se o papel central das vias Sonic Hedgehog e Hippo na carcinogênese do CBC de pacientes XP (AU)

The Xeroderma Pigmentosum (XP) syndrome occurs on base of biallelic inheritance of pathogenic germline variants of loss of function or function reduction in genes that plays role in nucleotide excision repair and translesion synthesis. Consequently, patients are deficient in correct DNA lesions mainly induced by ultraviolet radiation, present high sensitivity to solar radiation and increased risk for the development of multiple premalignant and malignant skin lesions. Since the heterogeneity in the clinical manifestation is under constantly discussion in the literature, to investigate it we proposed to explore the profile of germline variants and somatic variants in skin and non-skin tumors from XP patients. High-performance sequencing using the NextSeq (Illumina) platform was performed to assess the coding regions of 114 genes selected for their relevance in dermatological disorders, skin carcinogenesis, cutaneous physiology and DNA damage response. Six patients with clinical phenotype of XP syndrome and carriers of clinically relevant germline variants in the XPC or POLH/XPV genes were evaluated in the study. Heterozygous germline variants of uncertain significance were identified in the leukocyte DNA from five of the six patients occurring in DNAH11, PCDHB3, RGS22, SLC27A5, TTN and UGT2B10 genes. None of the identified variants showed loss of heterozygosity of the wild allele in tumor tissues. The CASP8 risk polymorphism for basal cell carcinoma of the skin (BCC) rs3769823[A] was not identified in only one case of the study which developed the minor number of tumors. The TYR risk polymorphism rs1126809[A] was detected only in the case with the highest number of BCC. Somatic variants were investigated in DNA from nine samples of BCCs (tissue stored in paraffin) and two samples of gastric tumor from the same surgical (tissue stored in paraffin and fresh frozen), all paired with the corresponding leukocyte DNA. Somatic variants were not identified in the BCC sample of XP-C patient with a less aggressive syndrome phenotype. A total of 235 missense variants and 29 loss of function variants were identified in 71 genes for seven BCC samples. A minimum of 11 and a maximum of 127 variants per sample were detected, with 85.2% showing an allelic frequency ≥20%. Except for one BCC, more than 95% of the identified somatic variants represented typically photoinduced mutations (C:G>T:A and G:C>T:A). Although XP patients accumulate a greater number of mutations due to deficiency in the repair mechanism, we did not observe different mutational load compared with sporadic BCCs. Twenty-seven genes showed somatic variants in more than one BCC sample. Genes shared between the seven BCC samples were not found. Among the altered genes in a greater number of tumors, it was identified BCC driver genes (LATS1, NOTCH2, PTCH1, PTPN14 and TP53), as well as genes non-classical for BCC carcinogenesis (APC, FLG and TTN). A driver variant in SMO was recurrent in three BCCs from the same patient. Two somatic variants in GLI3 and RB1 genes were identified occurring only in the fresh frozen tissue of gastric tumor, not in the tissue stored in paraffin. In this work, the heterogeneous clinical manifestation of XP syndrome is highlighted, as well as the identification of two risk polymorphisms. In addition, this work emphasizes the central role of the Sonic Hedgehog and Hippo pathways in BCC carcinogenesis of XP patients.

Análise em gênero, educação e tecnologias nas preferências e percepção de adolescentes em acesso à Internet / Analysing gender, education and technologies regarding adolescents preferences and perception while accessing the Internet / Análisis en género, educación y tecnologías en las preferencias y percepción de adolescentes en acceso a Internet

Em análise de correlação do uso intensivo da Internet em computadores, notebooks, tablets, celulares, constatou-se não existir relação considerável entre usar intensamente a Internet e ser homem ou mulher. Entretanto, nas respostas sobre acesso de conteúdo, apareceu diferença significativa entre os gêneros. Em geral, chamou atenção o fato de mulheres adolescentes acessarem mais sobre beleza e menos sobre tecnologia em frequências de valores proporcionalmente inversos aos masculinos. Ao mesmo tempo acessam mais a Internet para estudar. Sob a leitura de Bourdieu, tentamos explicar essa diferença, embora não tenha sido possível apontar o caminho percorrido pelos adolescentes para chegar às preferências com base nos dados disponíveis. Contudo, questionados sobre quem lida melhor com tecnologias, a expressão das opiniões mostrou-se contraditória, diante das percepções do preconceito. Houve indicativo de autopercepção feminina negativa nessas respostas que pode explicar a fuga das mulheres da área de Ciência e Tecnologia. Em última instância, abre-se caminhos para educadores e pesquisadores pensar essa reprodução de estrutura social, baseada em gênero, manifesta nas escolhas dos sujeitos ao usar a Internet.(AU)

In analysis of the correlation of the intensive use of the Internet in computers, laptops, tablets, cell phones, it was verified that there was no relation between using the Internet intensely and being male or female. However, in the responses on content access, there was a significant difference between the genders. Overall, adolescent females access more beauty content and less technology in frequencies with values inversely proportional to that of males of the same age but more girls access the Internet to study. Under Bourdieu's reading, we tried to explain this difference, although it was not possible to point out the path taken by adolescents to arrive at preferences based on the available data. However, when we question about who is best at dealing with technologies, the expression of opinions has been contradictory to perceptions of prejudice. There was indicative of negative female self-perception in these responses that may explain the escape of women from the area of STEM area. Ultimately, there is a way for educators and researchers to think about this reproduction of gender-based social structure manifested in the subjects' choices when using the Internet.(AU)

En un análisis de correlación del uso intensivo de Internet en computadoras, ordenadores portátiles, tabletas, celulares, se constató que no existe relación considerable entre usar intensamente la Internet y ser hombre o mujer. Sin embargo, en las respuestas sobre acceso de contenido, apareció una diferencia significativa entre los géneros. En general, llamó la atención del hecho de que las mujeres adolescentes acceden más sobre belleza y menos sobre tecnología en frecuencias de valores proporcionalmente inversas a los masculinos. Al mismo tiempo acceden más a Internet para estudiar. Bajo la lectura de Bourdieu, intentamos explicar esta diferencia, aunque no fue posible apuntar el camino recorrido por los adolescentes para llegar a las preferencias con base en los datos disponibles. Sin embargo, cuestionados sobre quién maneja mejor con tecnologías, la expresión de las opiniones se mostró contradictoria ante las percepciones del prejuicio. Hubo indicativo de autopercepción femenina negativa en esas respuestas que puede explicar la fuga de las mujeres del área de Ciencia y Tecnología. En última instancia, se abren caminos para educadores e investigadores pensar esa reproducción de estructura social, basada en género, manifiesta en las elecciones de los sujetos al usar la Internet.(AU)

A volatilidade da agenda de políticas de C& T no Brasil / La volatilidad de la agenda de políticas de C& T en Brasil / The volatility of S& T policy agenda in Brazil

Resumo Foi na década de 1950 que o Brasil incluiu explicitamente o item Ciência e Tecnologia (C&T) na agenda política em nível federal. As crises internacionais da década de 1970, entretanto, interromperam o avanço dos investimentos públicos nessa área, que acabaram sendo retomados nos anos 2000 com políticas industriais baseadas em concepções sistêmicas de inovação, a partir de um cenário de relativa estabilização macroeconômica. Contudo, a recente crise financeira internacional e a incapacidade dos governos de manter a estabilidade macroeconômica têm restringido a ação de políticas de C&T. O objetivo deste artigo é resgatar a trajetória da agenda das políticas de C&T no Brasil, considerando a dependência de caminhos institucionais que têm retardado a construção de um modelo de desenvolvimento de longo prazo.

Resumen: A partir de los años 1950 políticas explícitas de C&T fueron incorporadas a la agenda de los gobiernos federales en Brasil. Las crisis internacionales de la década de 1970 interrumpieron las inversiones públicas en el área. En los años 2000, una relativa estabilización macroeconómica llevó a retomar las políticas industriales basadas en concepciones sistémicas de innovación. Con todo, la reciente crisis financiera internacional y la incapacidad de los gobiernos para mantener la estabilidad macroeconómica han restringido la acción de las políticas de C&T. El objetivo de este artículo es rescatar la trayectoria de la agenda de las políticas de C&T en Brasil, a partir de los caminos de dependencia institucional que han retardado la construcción de un modelo de desarrollo de largo plazo.

Abstract In the 1950s, Brazil first made science and technology (S&T) an explicit item on its federal policy agenda. The international crises of 1970s interrupted the expansion of public investment in the area. Following 2000, relative macroeconomic stability brought back industrial policies based on systemic approaches to innovation. However, S&T policies initiatives have been overcome by the ongoing macroeconomic crisis and the governments' incapability to maintain the macroeconomic stability. This paper discusses Brazil's S&T policy track record, taking into account institutional path dependence that has held back the orchestration of a long term development model.

Estudio dínico y molecular en una familia con displasia ectodermica hipohidrotica autosomica dominante / Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia

La displasia ectodérmica hipohidrótica (DEH) es una entidad infrecuente caracterizada por deficiencia en el desarrollo de estructuras derivadas del ectodermo y es causada por mutaciones en los genes EDA, EDAR o EDARADD, que pueden exhibir hallazgos clínicos similares, debido a una vía de señalización común. Las mutaciones en el gen EDA causan la DEH ligada al X, que es la forma más frecuente. Por su parte, las mutaciones en los genes EDAR y EDARADD causan la DEH con patrón de herencia autosómica dominante y recesiva. Los hallazgos clínicos más resaltantes son hipodoncia, hipotricosis e hipohidrosis, que pueden llevar a episodios de hipertermia. Se presentan los hallazgos clínicos en un niño con DEH con patrón de herencia autosómica dominante, cuyo análisis molecular demostró mutación heterocigótica c.1072C>T (p.Arg358X) en el gen EDAR, y se discuten los diferentes aspectos clínicos encontrados en esta mutación en los casos descritos en la literatura.

Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C>T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed.

An Analysis of Blood Utilization for Stem Cell Transplant Patients in a Tertiary Care Hospital

BACKGROUND AND OBJECTIVE: Haematopoietic stem cell transplant is a potentially curative treatment option in various benign and malignant haematological diseases. Patients undergoing stem cell transplant procedure require blood transfusion on a daily basis. Currently, there is paucity of data from developing countries on transfusion practices. This audit was undertaken to determine the consumption of packed red blood cells (PRBCs) transfusion in the bone marrow transplant unit of the Aga Khan University Hospital. SUBJECTS AND METHODS: A retrospective audit was conducted for packed red cell transfusion ordering practice over a period from June 2014~June 2015. All consecutive patients, admitted for stem cell transplant procedure for various underlying diseases were included. Outcome measures used in this study were (i) cross match to transfusion (C: T) ratio and (ii) transfusion trigger. RESULTS: During the study period, n=25 patients underwent haematopoietic stem cell transplant. There were n=19 males and n=6 females. One patient was less than 15 years of age while rests were adults. Median age±SD was 26.5±14.5 years (12~54 years). The underlying diagnosis included Aplastic anemia (n=8), Thalassemia major (n=3), Multiple Myeloma (n=4), Acute leukemia (n=5), Hodgkin’s lymphoma (n=4), PRCA (n=1). Grand total consumption of PRBCs during the study period was 204 while 258 products were crossmatch. The C:T ratio was 1.26. The transfusion trigger was Hb level of less than 8 gms/dl. CONCLUSION: The results of our BMT unit indicate that the C:T ratio and transfusion trigger is comparable to the international benchmark.

Diagnostic Value of Postmortem CT Angiography in Coronary Atherosclerosis / 法医学杂志

Objective T o explore the application value of postm ortem com puted tom ography (C T ) an-giography on diagnosis of coronary atherosclerotic stenosis degree. Methods B ased on the previous ex-perim ental results, the postm ortem C T angiography device of hum an isolated heart w as im proved. D iffer-ent coronary atherosclerotic stenosis degree of sudden death cases w as selected. B efore the cardiac anatom y, hearts w ere rem oved out com pletely and C T angiography w as perform ed im m ediately. T he C T angiography results w ere com pared w ith histopathological findings. M eanw hile, the advantages and disad-vantages of the angiography device before and after im provem ent w ere com pared. Results T he im proved angiography device of isolated heart could get better im aging results. T he postm ortem C T angiography results had high consistency w ith the histopathological findings on diagnosis of coronary atherosclerotic stenosis degree. A nd the coronary artery lesions could be revealed m ore objectively and vividly by 3D reconstruction technology. H ow ever, C T angiography could only be used to exam ine the pathological changes of blood vessels, w hich m ight have som e lim itations on the diagnosis of cause of death. Con-clusion Postm ortem C T angiography can be used as an additional m ethod for the conventional autopsy in the cases of coronary atherosclerosis.

The association between the polymorphisms in the IL-4-590C/T gene and children asthma disease:a Meta analysis / 重庆医学

Objective To investigate the relationship between polymorphism of IL-4-590C/T and susceptibility of asthma.Methods The case-control articles reporting the relationship between IL-4-590C/T polymorphism and susceptibility of asthma were collected by China National Knowledge Infrastructure,WanFang data,VIP citation databases,Pubmed,Baidu Scholar,time limits are retrieved from the building a database to January 2016.The Meta-analysis software RevMan5.0 and Stata 12.0 was applied for heterogeneity test and pooled OR calculation.Results Seven case-control studies were selected,including 1 167 cases in the asthma group and 1 101 cases in the control group.Meta-analysis showed that both-590C/T polymorphisms genotypes were significantly associated with asthma,five kinds of senotypes OR(95％ CI) were CT+CC vs.TT[0.7 (0.57-0.85)],CC vs.CT+ TT [0.56(0.43-0.72)],CC vs.TT[0.46(0.33-0.64)],CC vs.CT[0.64(0.48-0.85)],C vs.T[0.45(0.27-0.77)].From subgroup analysis,genotype CC vs.CT+TT[0.50(0.35-0.72)],CC vs.TT[0.50(0.27-0.95)],CT vs.TT[0.61(0.41-0.92)],C vs.T[0.47 (0.23-0.95)] with risk correlated in Asian children asthma(P value is 0.01,0.04,0.02,0.03).Genotype CC vs.CT+TT[0.63(0.44-0.90)],CC vs.TT[0.49(0.25-0.96)],CC vs.CT[0.67(0.45-0.98)] also indicated a significant correlation between-590C/T polymorphisms of IL-4 and asthma in non-Asian children(P value is 0.01,0.04,0.04).Conclusion Current evidence suggests that the-590C/T polymorphism of IL-4 gene is associated with children asthma.

A cross-sectional study to assess any possible linkage of C/T polymorphism in CYP17A1 gene with insulin resistance in non-obese women with polycystic ovarian syndrome.

Background & objectives: Insulin resistance (IR) is a major confounding factor in polycystic ovarian syndrome (PCOS) irrespective of obesity. Its exact mechanism remains elusive till now. C/T polymorphism in the -34 promoter region of the CYP17 gene is inconsistently attributed to elucidate the mechanism of IR and its link to hyperandrogenemia in obese PCOS patients. In the present study we aimed to evaluate any association of this polymorphism with IR in non-obese women with PCOS. Methods: Polymorphism study was performed by restriction fragment length polymorphism (RFLP) analysis of the Msp A1 digest of the PCR product of the target gene in 75 PCOS cases against 73 age and BMI matched control women. Serum testosterone, BMI and HOMA-IR (homeostatic model of assessment-insulin resistance) were analyzed by standard techniques. A realistic cut-off value for the HOMA-IR was obtained through receiver operating characteristic (ROC) curve for exploring any possible link between IR and T/C polymorphism in the case group. Results: Significant increases in serum testosterone and HOMA-IR values were observed among the case group (P<0.001) without any significant elevation in BMI and FBG compared to controls. Cut-off value for IR in the PCOS patients was 1.40 against a maximum sensitivity of 0.83 and a minimum false positivity of 0.13. The analysis revealed an inconclusive link between the C/T polymorphic distribution and insulin resistant case subjects. Interpretation & conclusions: The results showed that CYP17A1 gene was not conclusively linked to either IR or its associated increased androgen secretion in non-obese women with PCOS. We propose that an increased sensitivity of insulin on the ovarian cells may be the predominant reason for the clinical effects and symptoms of androgen excess observed in non-obese PCOS patients in our region.

Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder caused by mutations in the NOTCH3 gene, located on chromosome 19p13. NOTCH3 encodes a transmembrane receptor which plays a role in cellular differentiation and cell cycle regulation. CASE REPORT: A 71-year-old female showing headache and memory impairment, familial history of stroke and having a missense mutation from proline to serine at codon 167 in the exon 4 on NOTCH3 gene. Five family members revealed the same mutation (c.499C>T), who presented migrainous headache and stroke. In this study, we have uncovered a novel NOTCH3 mutation at the nucleotide position 499 (c.499C>T; p.P167S) in a family with CADASIL. CONCLUSIONS: We suggested a missense mutation of proline to serine at codon 167 in exon 4 of the NOTCH3 gene, which resulted in the substitution of cytosine to thymine (c.499C>T) resulting migraine, stroke and vascular cognitive impairment.

Estudio clínico y molecular en un escolar con displasia ectodérmica hipohidrótica ligada al X / Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia

Las displasias ectodérmicas comprenden más de 200 entidades clínicamente distintivas, las cuales afectan, al menos, dos estructuras derivadas del ectodermo, que incluyen la piel, el pelo, las unas, los dientes, las glándulas sudoríparas y sebáceas. La displasia ectodérmica hipohidrótica ligada al X es el tipo más frecuente y es causada por mutación del gen EDA, que codifica la ectodisplasina-A. Su frecuencia es menor de 1 en 100000 individuos y se caracteriza clínicamente por presentar hipodoncia, hipohidrosis, hipotricosis y alteraciones oculares. Se expone el caso de un escolar evaluado de forma multidisciplinaria con diagnóstico clínico y molecular de displasia ectodérmica hipohidrótica ligada al X con mutación tipo cambio de sentido c.1133C>,T, p.T378M, en el gen EDA.

Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. X-linked hypohidrotic ectodermal dysplasia is the most common type and is caused by mutation of the EDA gene that encodes Ectodysplasin-A. It occurs in less than 1 in 100 000 individuals and is clinically characterized by hypodontia, hypohidrosis, hypotrichosis, and eye dis orders. We present a child evaluated in a multidisciplinary manner with clinical and molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia with type missense mutation c.1133C> T; p.T378M in EDA gene.

Clopidogrel resistance and ABCB1 (3435C >T) gene polymorphism: a meta analysis / 中国药学杂志

OBJECTIVE: To investigate the association between clopidogrel resistance (CR) with 3435C >T site polymorphism of ABCB1 gene. METHODS: The published articles were searched in the Pubmed, Science direct, Wiley online library, Web of Science, CNKI, CDDB database, and VIP. Search and sort out the article which is clopidogrel-resistance/clopidogrel-efficacy(CE) study about the relationship between CR and 3435C > T site polymorphism of ABCB1 gene, also combined with manually retrieving the references and similar results in the attached documents. The range of searching time was all from inception to June 25, 2014. RevMan5.0 software was used to conduct the Meta-analysis and other statistic analysis. RESULTS Six articles were included in our research. It showed that the total number of CR is 2 619, and the total number of CE is 2 799. While the result showed that there exist significant correlations between ABCB1 3435C >T loci polymorphism and CR in the allele gene model, dominant gene model, co-dominant gene model (CC/CT) and super-dominant gene model; the allele gene model, OR = 1.27, 95% CI (1.13, 1.42); dominant gene model, OR = 1.42, 95% CI (1.22, 1.65); co-dominant gene model (CC/CT), OR = 1.43, 95% CI (1.20, 1.69); super-dominant gene model, OR = 1.30, 95% CI(1.11, 1.52). The further race subgroup analysis showed that there possess significant relevance between ABCB1 3435C >T loci polymorphism and CR in Asia (P T loci polymorphism among European; but CR relates to the ABCB1 3435C > T loci polymorphism among Asian.

Relation between Body Height and Combined Length of Manubrium and Mesosternum of Sternum Measured by CT-VRT in Southwest Han Population / 法医学杂志

Objective To establish the linear regression equation between body height and com bined length of manubrium and mesosternum of sternum m easured by CTvolum e rendering technique (CT-VRT) in southw est H an population. Methods One hundred and sixty subjects, including 80 m ales and 80 fem ales w ere selected from southw est H an population for routine CT-VRT(reconstruction thickness 1 m m ) ex-am ination. The lengths of both manubrium and mesosternum w ere recorded, and the com bined length of manubrium and mesosternum was equal to the algebraic sum of them . The sex-specific linear regression equations between the com bined length of manubrium and mesosternum and the real body height of each subject w ere deduced. Results The sex-specific sim ple linear regression equations between the com bined length of manubrium and mesosternum (x3) and body height (y) w ere established (m ale:y=135.000+2.118x3 and fem ale:y=120.790+2.808x3).Both equations show ed statisticalsignificance (P<0.05) w ith a 100% predictive accuracy. Conclusion CT-VRTis an effective m ethod for m easurem ent of the index of sternum . The com bined length of manubrium and mesosternum from CT-VRTcan be used for body height estim ation in southw est H an population.

MTHFR 677 C/T polymorphism-new ideas about depressive disorder treatment / 中国药理学通报

It has been confirmed that genetic factor plays an im-portant role in the pathogenesis of depression. MTHFR is one of the key enzymes in folate and homocysteine ( Hcy ) metabolism which participates in Alzheimer’ s disease, depression and other mental illnesses. MTHFR-677C/T polymorphism causes the de-crease of enzyme activity and heat resistance, which will lead to lower folate and elevated plasmal Hcy concentration. All of these results put together will cause the central neuronal damage and microvascular damage and affect the synthesis of central neuro-transmitter and methylation of biogenic amines and phospholipids in the central nervous system, which will eventually induce vari-ous mental illnesses like depression, etc. This article reviews the research advancement in the relationship between MTHFR-677C/T polymorphism and depression in recent years on the basis of MTHFR gene mutation and function, lack of folic acid, elevated plasma homocysteine levels and the MTHFR-C677T polymor-phism. Based on which we hope to bring new ideas about treat-ment of depression.