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Sample records for gen mthfr gestaciones

  1. Búsqueda de selección en el polimorfismo 677C>T (c.665C>T) del gen de la metilentetrahidrofolato reductasa (MTHFR) en una población Colombiana

    Riaño Moreno, Julián Camilo

    2014-01-01

    Se realizó un estudio genético – poblacional en dos grupos etarios de población colombiana con la finalidad de evaluar las diferencias genéticas relacionadas con el polimorfismo MTHFR 677CT en busca de eventos genéticos que soporten la persistencia de este polimorfismo en la especie humana debido que este ha sido asociado con múltiples enfermedades. De esta manera se genotipificaron los individuos, se analizaron los genotipos, frecuencias alélicas y se realizaron diferentes pruebas genéticas...

  2. Área Clínica: Estudio Bioquímico y Genético de la Enfermedad Troboblástica Gestacional.

    Antonio J. Bermúdez

    2006-03-01

    La presente investigación de enfoque multidisciplinario, presenta los resultados del estudio realizado en las ciudades de Bogotá y Zipaquirá donde se discuten aspectos socioculturales, clínicos, genéticos, bioquímicos y epidemiológicos de la mola hidatidiforme y las condiciones para su diagnóstico preciso...

  3. Terapia nutricional no diabetes gestacional

    Padilha,Patricia de Carvalho; Sena,Ana Beatriz; Nogueira,Jamile Lima; Araújo,Roberta Pimenta da Silva; Alves,Priscila Dutra; Accioly,Elizabeth; Saunders,Cláudia

    2010-01-01

    Trata-se de uma revisão da literatura científica sobre a terapia nutricional no Diabetes Mellitus Gestacional, sem restrição de data e com fontes primárias indexadas nas bases de dados SciELO, PubMed, Medline. Os resultados desta revisão apontam a intervenção nutricional como uma importante aliada no controle do Diabetes Mellitus Gestacional, trazendo potenciais benefícios à saúde materno-fetal. Na avaliação do estado nutricional materno devem ser empregados os indicadores antropométricos, di...

  4. Sexualidad en el periodo gestacional

    García Romero, María

    2014-01-01

    Escasos son los estudios que investigan la actividad sexual durante el período gestacional, y que plantean posibles soluciones para paliar los problemas y/o mejorar los conocimientos que tengan los futuros padres. Se trata de una etapa en las que se producen una serie de cambios biopsicosociales que repercutirán en sus vidas y, por lo tanto, en su sexualidad. OBJETIVO: Identificar los cambios y/o problemas más frecuentes que presenta la mujer embarazada respecto a su sexuali...

  5. Is MTHFR polymorphism a risk factor for Alzheimer's disease like APOE? Polimorfismo da MTHFR é um fator de risco para demência de Alzheimer como APOE?

    Liana Lisboa Fernandez

    2005-03-01

    controle. DNA foi isolado de leucócitos periféricos extraídos de sangue venoso anticoagulado. Genótipos de APOE e MTHFR foram realizados por amplificação de DNA e digestão. As freqüências dos genótipos da APOE e MTHFR foram submetidas ao teste do chi-quadrado corrigido pelo teste de Fisher; os genótipos da APOE, ao teste do chi-quadrado com tendência linear e as freqüências da MTHFR mutante e DA à análise estratificada corrigida pelo método de Mantel-Haenszel. RESULTADOS: Houve diferença significativa entre APOE4 e APOE2 nos grupos (p=0,002. O odds ratio aumentou exponencialmente com o aumento do número de alelo E4 (teste chi2 com tendência linear. Nenhuma diferença significativa foi detectada nos genótipos da MTHFR em ambos grupos caso e controle. CONCLUSÃO: O alelo APOE4 é um fator de risco e demonstrou efeito dose-dependente enquanto o alelo E2 conferiu proteção para DA. A mutação da MTHFR não teve correlação dom DA.

  6. Association between methylenetetrahydrofolate reductase (MTHFR ...

    Association between methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism and risk of ischemic stroke in North Indian population: A hospital based case–control study. Amit Kumar, Shubham Misra, Anjali Hazarika, Pradeep Kumar, Ram Sagar, Abhishek Pathak, Kamalesh Chakravarty, Kameshwar ...

  7. Prevalence of methylenetetrahydrofolate reductase ( MTHFR ) and ...

    Methylenetetrahydrofolate reductase (MTHFR) and Cytosolic serine hydroxymethyltransferase (cSHMT) are enzymes involve in folate regulation in human. The C to T transition of the cSHMT and MTHFR genes at the 1420 as well as 677 nucleotides both carries TT genotype respectively. These enzymes have direct and ...

  8. TIROTOXICOSIS GESTACIONAL: PATOLOGIA CON RIESGO VITAL

    Valdés R.,Enrique; Pilasi M.,Carlos; Núñez U.,Tatiana

    2003-01-01

    Se presenta un caso clínico con diagnóstico final de Tirotoxicosis gestacional que debuta con una complicación excepcional, insuficiencia cardíaca congestiva e hipertensión pulmonar severa. Se presenta la experiencia del Hospital Clínico de la Universidad de Chile, proponiendo que su diagnóstico y tratamiento oportunos son la base del pronóstico de esta patología de riesgo vital para el binomio madre-hijo

  9. La diabetes gestacional y las mujeres (Gestational Diabetes and Women)

    Este podcast sobre la salud de las mujeres se concentra en la diabetes gestacional para ayudar a educar a las mujeres que habrían recibido el diagnóstico de esta enfermedad ahora o en el pasado. La diabetes gestacional es una afección que puede llevar a complicaciones en el embarazo.

  10. Enfermedad hipertensiva gestacional, algunos factores de riesgo

    Karen Luz Torres Rojas

    2015-11-01

    Full Text Available Se realizó un estudio descriptivo de corte transversal, con el objetivo de describir  algunos factores de riesgo asociados a la Enfermedad Hipertensiva Gestacional (EHG, en la Clínica Comoro, del distrito  Dili,  en el período comprendido del 1 de junio de 2006 al 31 de mayo de 2007.  La muestra quedó constituida por 99 embarazadas  con diagnóstico  de hipertensión gestacional. Las variables estudiadas fueron: edad, paridad, factores de riesgo (antecedentes  familiares de  hipertensión arterial,  pielonefritis, obesidad, antecedentes de eclampsia, alcoholismo y tabaquismo, enfermedades crónicas asociadas y formas clínicas presentadas.  La EHG se presentó con más frecuencia en las pacientes del grupo de edad de 35 años y más, seguido por el grupo de 15-19 años. La nuliparidad predominó en las gestantes estudiadas. El factor de riesgo más frecuente fue el antecedente familiar de hipertensión arterial. La forma clínica que prevaleció fue la pre eclampsia-eclampsia.

  11. Mthfr gene ablation enhances susceptibility to arsenic prenatal toxicity

    Wlodarczyk, Bogdan J.; Zhu, Huiping; Finnell, Richard H.

    2014-01-01

    Background: In utero exposure to arsenic is known to adversely affect reproductive outcomes. Evidence of arsenic teratogenicity varies widely and depends on individual genotypic differences in sensitivity to As. In this study, we investigated the potential interaction between 5,10-methylenetetrahydrofolate reductase (Mthfr) genotype and arsenic embryotoxicity using the Mthfr knockout mouse model. Methods: Pregnant dams were treated with sodium arsenate, and reproductive outcomes including: implantation, resorption, congenital malformation and fetal birth weight were recorded at E18.5. Results: When the dams in Mthfr +/− × Mthfr +/− matings were treated with 7.2 mg/kg As, the resorption rate increased to 43.4%, from a background frequency of 7.2%. The As treatment also induced external malformations (40.9%) and significantly lowered the average fetal birth weight among fetuses, without any obvious toxic effect on the dam. When comparing the pregnancy outcomes resulting from different mating scenarios (Mthfr +/+ × Mthfr +/− , Mthfr +/− × Mthfr +/− and Mthfr −/− × Mthfr+/− ) and arsenic exposure; the resorption rate showed a linear relationship with the number of null alleles (0, 1 or 2) in the Mthfr dams. Fetuses from nullizygous dams had the highest rate of external malformations (43%) and lowest average birth weight. When comparing the outcomes of reciprocal matings (nullizygote × wild-type versus wild-type × nullizygote) after As treatment, the null dams showed significantly higher rates of resorptions and malformations, along with lower fetal birth weights. Conclusions: Maternal genotype contributes to the sensitivity of As embryotoxicity in the Mthfr mouse model. The fetal genotype, however, does not appear to affect the reproductive outcome after in utero As exposure. - Highlights: • An interaction between Mthfr genotype and arsenic embryotoxicity is presented. • Maternal Mthfr genotype contributes to the sensitivity of As

  12. Enfermedad trofoblástica gestacional

    Ariel Labrada Salas

    2014-09-01

    Full Text Available Se presenta un caso con enfermedad trofoblástica gestacional de diagnóstico tardío, que debutó con manifestaciones respiratorias, producidas por metástasis pulmonares. Los datos se obtuvieron de la historia clínica de la paciente y, además, se revisó la literatura. Se trata de una paciente de 23 años de edad, con antecedentes de dos abortos espontáneos recientes, que ingresó por manifestaciones clínicas y radiológicas sugestivas de neumonía de la comunidad, con derrame pleural paraneumónico, siendo tratada con antibióticos de amplio espectro sin respuesta adecuada. Después del ingreso apareció dolor en hipogastrio y se le realizó un ultrasonograma ginecológico, que mostró quistes de ovario bilaterales, y una laparoscopía que informó quiste de ovario con compromiso vascular, por lo que se le practicó histerectomía total. Se determinaron niveles elevados de gonadotropina coriónica humana en sangre. En la tomografía axial computarizada de pulmón se observaron imágenes nodulares en ambos campos pulmonares, de aspecto metastásico. El estudio citológico del líquido pleural fue positivo de células neoplásicas. Se planteó el diagnostico de enfermedad trofoblástica con metástasis pulmonares y se inició quimioterapia con metotrexato, con respuesta favorable

  13. inherited thrombophilia and recurrent pregnancy loss Trombofilias heredadas y pérdida gestacional recurrente

    Angela Patricia Cadavid Jaramillo

    2002-03-01

    Full Text Available One of the causes of recurrent pregnancy loss is thrombophilia, defined as a tendency to thrombosis or hypercoagulability, with various clinical manifestations dependent on the vascular region affected by the absence of blood flow. Thrombophilias can be classified as inherited or acquired, according to the nature of their cause. The former are factor V Leiden, the prothrombin G20210A, the methilenetetrahydrofolate reductase C677T, deficiencies of the natural anticoagulants antithrombin III, protein C and protein S, dysfibrinogens and homocystinuria. The group of acquired thrombophilias includes antiphospholipid syndrome, activated protein C resistance without alterations in the gene of factor V and mild or moderate hyperhomocysteinemia. This article reviews several recent studies looking for association between different thrombophilias and recurrent pregnancy loss. Also diagnostic, prophylactic and therapeutic recommendations are included, for women with thrombophilia and pregnancy loss Una de las causas de pérdida gestacional recurrente es la trombofilia, que se define como una tendencia a la trombosis o hipercoagulabilidad, con variabilidad en las manifestaciones clínicas dependiente de la región vascular afectada por la ausencia de flujo sanguíneo. Las trombofilias se pueden clasificar como heredadas y adquiridas de acuerdo con la naturaleza de su causa. Entre las trombofilias heredadas están el factor V Leiden, la protrombina G20210A, la metilentetrahidrofolato reductasa C677T, las deficiencias de los anticoagulantes naturales antitrombina III, proteína C y proteína S, las disfibrinogenemias y la homocistinuria. En el grupo de las trombofilias adquiridas se encuentran el síndrome antifosfolípido, la resistencia a la proteína C activada sin alteraciones en el gen del factor V y la hiperhomocisteinemia leve o moderada. Este artículo es una revisión de la literatura de estudios recientes que han buscado la asociación entre las

  14. Mthfr gene ablation enhances susceptibility to arsenic prenatal toxicity

    Wlodarczyk, Bogdan J., E-mail: bwlodarczyk@austin.utexas.edu; Zhu, Huiping; Finnell, Richard H.

    2014-02-15

    Background: In utero exposure to arsenic is known to adversely affect reproductive outcomes. Evidence of arsenic teratogenicity varies widely and depends on individual genotypic differences in sensitivity to As. In this study, we investigated the potential interaction between 5,10-methylenetetrahydrofolate reductase (Mthfr) genotype and arsenic embryotoxicity using the Mthfr knockout mouse model. Methods: Pregnant dams were treated with sodium arsenate, and reproductive outcomes including: implantation, resorption, congenital malformation and fetal birth weight were recorded at E18.5. Results: When the dams in Mthfr{sup +/−} × Mthfr{sup +/−} matings were treated with 7.2 mg/kg As, the resorption rate increased to 43.4%, from a background frequency of 7.2%. The As treatment also induced external malformations (40.9%) and significantly lowered the average fetal birth weight among fetuses, without any obvious toxic effect on the dam. When comparing the pregnancy outcomes resulting from different mating scenarios (Mthfr{sup +/+} × Mthfr{sup +/−}, Mthfr{sup +/−} × Mthfr{sup +/−} and Mthfr{sup −/−} × {sup Mthfr+/−}) and arsenic exposure; the resorption rate showed a linear relationship with the number of null alleles (0, 1 or 2) in the Mthfr dams. Fetuses from nullizygous dams had the highest rate of external malformations (43%) and lowest average birth weight. When comparing the outcomes of reciprocal matings (nullizygote × wild-type versus wild-type × nullizygote) after As treatment, the null dams showed significantly higher rates of resorptions and malformations, along with lower fetal birth weights. Conclusions: Maternal genotype contributes to the sensitivity of As embryotoxicity in the Mthfr mouse model. The fetal genotype, however, does not appear to affect the reproductive outcome after in utero As exposure. - Highlights: • An interaction between Mthfr genotype and arsenic embryotoxicity is presented. • Maternal Mthfr genotype

  15. Null association of maternal MTHFR A1298C polymorphism with ...

    Background: Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme of folate/homocysteine pathway and is essential for DNA synthesis and methylation. MTHFR gene polymorphisms have been reported as risk factors for congenital defects and several metabolic and neurological disorders. Several studies ...

  16. Maternal MTHFR gene polymorphisms and the risk of Down ...

    Estimation of maternal plasma homocysteine (Hyc): methionine (Met) ratio and lymphocyte methotrexate (MTX) cytotoxicity to assess the occurrence of MTHFR 677C → T mutation. Results: The MTHFR 677C → T polymorphism is more prevalent among mothers of infant with DS compared with the controls, with an odd ratio ...

  17. Two methylenetetrahydrofolate reductase gene (MTHFR) polymorphisms, schizophrenia and bipolar disorder

    Jönsson, Erik G; Larsson, Kristina; Vares, Maria

    2008-01-01

    disorder. In a replication attempt the MTHFR C677T and A1298C SNPs were analyzed in three Scandinavian schizophrenia case-control samples. In addition, Norwegian patients with bipolar disorder were investigated. There were no statistically significant allele or genotype case-control differences....... The present Scandinavian results do not verify previous associations between the putative functional MTHFR gene polymorphisms and schizophrenia or bipolar disorder. However, when combined with previous studies in meta-analyses there is still evidence for association between the MTHFR C677T polymorphism......Recent meta-analyses of the methylenetetrahydrofolate reductase gene (MTHFR) have suggested association between two of its functional single gene polymorphisms (SNPs; C677T and A1298C) and schizophrenia. Studies have also suggested association between MTHFR C677T and A1298C variation and bipolar...

  18. Toxoplasmose gestacional: uma revisão da literatura

    Patrícia Micheli Tabile

    2015-07-01

    Full Text Available Justificativa e objetivos. A toxoplasmose é uma doença infecciosa causada pelo parasita Toxoplasma gondiie apresenta elevadas taxas de transmissão vertical, podendo chegar a 65% no terceiro trimestre de gestação. O foco principal foi revisar o diagnóstico e manejo da toxoplasmose gestacional, destacando a importância do rastreio na gestação com solicitação de sorologias precocemente durante o pré-natal. Conteúdo. As principais formas de contrair a toxoplasmose gestacional são a ingestão de carnes mal cozidas e verduras mal lavadas e, ainda, o contato direto ou indireto com oocistos presentes nas fezes de gatos. O diagnóstico da toxoplasmose gestacional é feito através da pesquisa de anticorpos específicos das classes IgG e IgM contra Toxoplasma gondii em amostras de soro e o rastreamento é obrigatório durante o pré-natal. Apesar disso, essa doença apresenta alta prevalência no Brasil, com 60 mil novos casos ao ano, sendo considerado um grave problema de saúde pública. O tratamento varia de acordo com o período gestacional e baseia-se na administração de espiramicina, podendo ou não ser alternado sulfadiazina, pirimetamina e ácido fólinico, tendo como objetivo diminuir as sequelas para o recém nascido. Conclusão: Assim, entende se que para o diagnóstico das infecções agudas a triagem sorológica é amais indicada e para tratamento, uma vez detectada a soroconversão na grávida, deve ser imediatamente iniciada terapêutica com espiramicina. Descritores: Toxoplasma. Toxoplasmose congênita. Doenças transmissíveis. Transmissão vertical de doença infecciosa. Cuidado pré-natal.

  19. Fetal MTHFR C677T polymorphism confers no susceptibility to ...

    ... DS risk (OR = 1.66; 95% CI = 1.22–2.25; p = 0.001). Less heterogeneity (I2 = 48.31), so fixed effect model was used. In conclusion, present meta-analysis suggests that MTHFR C677T polymorphism of fetus is not risk factor for DS. Keywords: Down syndrome, MTHFR, C677T, Polymorphism, Meta-analysis, Homocysteine ...

  20. Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age of onset in schizophrenia

    Vares, Maria; Saetre, Peter; Deng, Hong

    2010-01-01

    = 820) diagnosed with schizophrenia, schizoaffective disorder, and schizophreniform disorder were investigated. Two functional MTHFR single nucleotide polymorphisms (SNPs; rs1801131 and rs1801133) were genotyped and the effect of MTHFR polymorphisms on the age of onset was examined with survival...

  1. Terapia nutricional no diabetes gestacional Nutritional therapy in gestational diabetes

    Patricia de Carvalho Padilha

    2010-02-01

    Full Text Available Trata-se de uma revisão da literatura científica sobre a terapia nutricional no Diabetes Mellitus Gestacional, sem restrição de data e com fontes primárias indexadas nas bases de dados SciELO, PubMed, Medline. Os resultados desta revisão apontam a intervenção nutricional como uma importante aliada no controle do Diabetes Mellitus Gestacional, trazendo potenciais benefícios à saúde materno-fetal. Na avaliação do estado nutricional materno devem ser empregados os indicadores antropométricos, dietéticos, bioquímicos, clínicos e funcional. Neste sentido, a avaliação dietética deve ser detalhada, com atenção para o fracionamento e composição das refeições, e grupos de alimentos presentes. No planejamento nutricional a distribuição de macronutrientes em relação ao consumo energético diário deve ser 45-65% de carboidratos, 15-20% de proteínas e 20-35% de lipídeos. Quanto a recomendação dos edulcorantes, são liberados para gestantes acesulfame K, aspartame, neotame, sacarina e sucralose. A atividade física também deve fazer parte da estratégia de tratamento do Diabetes Mellitus Gestacional, embora o impacto do exercício nas complicações neonatais ainda mereça ser rigorosamente testado. Ademais, estudos associam a habilidade de aconselhamento nutricional com a melhorara na adesão ao cuidado nutricional. Diante desses achados, para sucesso no controle do DMG são necessários: a participação da equipe inter e multidisciplinar, o cuidado pré-natal precoce, com assistência nutricional oportuna e a garantia da assistência de qualidade ao longo da gestação.This is a scientific literature review about nutritional therapy in gestational diabetes mellitus, without date restriction and using the SciELO, PubMed and Medline databases. The results of this review show that nutritional intervention is an important tool for managing gestational diabetes mellitus, and potentially benefits the mother's and fetal health

  2. Pequenos para idade gestacional: fator de risco para mortalidade neonatal

    Almeida Márcia Furquim de

    1998-01-01

    Full Text Available OBJETIVO: Estudar as variáveis contempladas na Declaração de Nascimento (DN como possíveis fatores de risco para nascimentos pequenos para a idade gestacional (PIG e o retardo de crescimento intra-uterino como fator de risco para a mortalidade neonatal. MATERIAL E MÉTODO: As variáveis existentes na DN foram obtidas diretamente de prontuários hospitalares. Os dados referem-se a uma coorte de nascimentos obtida por meio da vinculação das declarações de nascimento e óbito, correspondendo a 2.251 nascimentos vivos hospitalares, de mães residentes, ocorridos no Município de Santo André, Região Metropolitana de São Paulo, no período de l/1 a 30/6/1992, e aos óbitos neonatais verificados nessa coorte. RESULTADOS: Obteve-se a proporção de 4,3% de nascimentos PIG, significativamente maior entre os recém-nascidos de pré-termo e pós-termo, entre os nascimentos cujas mães tinham mais de 35 anos de idade e grau de instrução inferior ao primeiro grau completo. Os recém-nascidos PIG apresentam maior risco de morte neonatal que aqueles que não apresentavam sinais de retardo de crescimento intra-uterino. CONCLUSÕES: Em áreas com menor freqüência de baixo peso ao nascer, é importante investigar a presença de retardo de crescimento intra-uterino entre os nascimentos prematuros e não apenas nos nascimentos de termo. O registro da data da última menstruação (ou da idade gestacional em semanas não agregadas na DN facilitaria a detecção de PIGs na população de recém-nascidos.

  3. Doença trofoblástica gestacional recorrente

    Belfort Paulo

    2003-01-01

    Full Text Available OBJETIVO: estudar a freqüência da neoplasia trofoblástica gestacional recorrente e analisar se a evolução e o desfecho do episódio de repetição acarretam agravado risco, assim de invasão como de malignização, e se há necessidade de maior número de ciclos de quimioterapia e regimes mais agressivos. MÉTODOS: vinte e nove pacientes com mola hidatiforme recorrente foram acompanhadas e eventualmente tratadas no Centro de Neoplasia Trofoblástica Gestacional da 33ª Enfermaria da Santa Casa da Misericórdia do Rio de Janeiro, entre 1960 e 2001, representando incidência de 1,2% (29/2262. Foram revisados os prontuários médicos para determinar a idade das pacientes, o número de gravidezes, paridade, apresentação clínica e quimioterapia, caso tenha sido realizada. Um total de cinqüenta e oito episódios de neoplasia trofoblástica ocorreram nas 29 pacientes. Todos os casos tiveram comprovação histopatológica. Os cálculos estatísticos foram feitos mediante o teste de chi superscript two com correção de Yates e analisados pelo programa Epi-Info 2000, versão Windows, elaborado pelo Centro de Controle de Doenças de Atlanta, EUA. RESULTADOS: ocorreu mola invasora ou coriocarcinoma, no primeiro evento molar, em apenas uma paciente (1/29 - 3,4%; invasão ou malignização, entretanto, manifestou-se no segundo evento em sete pacientes (7/29 - 24,1% [RR: 8,9; IC 95% 1,5-41; p<0,05]. CONCLUSÃO: a gravidez molar recorrente cursa com agravamento histológico e aumento na incidência de seqüela trofoblástica proliferativa, exigindo quimioterapia mais freqüente e agressiva para induzir remissão.

  4. Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash.

    Crushell, Ellen

    2012-09-01

    We report on the case of a 2-year-old girl recently diagnosed with Methylenetetrahydrofolate reductase (MTHFR) deficiency who originally presented in the neonatal period with a distinctive rash. At 11 weeks of age she developed seizures, she had acquired microcephaly and developmental delay. The rash deteriorated dramatically following commencement of phenobarbitone; both rash and seizures abated following empiric introduction of pyridoxine and folinic acid as treatment of possible vitamin responsive seizures. We postulate that phenobarbitone in combination with MTHFR deficiency may have caused her rash to deteriorate and subsequent folinic acid was helpful in treating the rash and preventing further acute neurological decline as commonly associated with this condition.

  5. Maternal MTHFR polymorphisms and risk of spontaneous abortion Polimorfismos maternos MTHFR y riesgo de aborto espontáneo

    María del Rosario Rodríguez-Guillén

    2009-02-01

    Full Text Available OBJECTIVE: To asses the association between intake of folate and B vitamins and the incidence of spontaneous abortion (SA according to the maternal methylenetetrahydrofolate reductase (MTHFR polymorphisms (677 C>T and 1298 A>C. MATERIAL AND METHODS: We conducted a nested case-control study within a perinatal cohort of women recruited in the state of Morelos, Mexico. Twenty-three women with SA were compared to 74 women whose pregnancy survived beyond week 20th. Intake of folate and B vitamins respectively, was estimated using a validated food frequency questionnaire. Maternal MTHFR polymorphisms were determined by PCR-RFLP and serum homocysteine levels by HPLC. RESULTS: Carriers of MTHFR 677TT and 1298AC genotypes respectively showed an increased risk of SA (OR 677TT vs. CC/CT=5.0; 95% CI: 1.2, 20.9 and OR 1298 AC vs. AA=5.5; 95% CI: 1.1, 26.6. CONCLUSIONS: Our results support the role of MTHFR polymorphisms as a risk factor for SA, regardless of dietary intake of B vitamins.OBJETIVO: Evaluar la asociación entre aborto espontáneo (AE y el consumo dietético de vitaminas B en mujeres mexicanas portadoras de los polimorfismos de la metilentetrahidrofolato reductasa (MTHFR (677 C>T y 1298 A>C. MATERIAL Y MÉTODOS: Mediante un diseño de casos y controles anidados en una cohorte, se comparó la ingesta dietética materna de vitaminas B y folato, los polimorfismos maternos de la MTHFR y la concentración sérica de homocisteina de 23 casos de AE ( 20 semanas. RESULTADOS: Las portadoras de los genotipos MTHFR 677TT y 1298AC presentaron un incremento significativo en el riesgo de AE (RM 677TT vs. CC/CT=5.0; IC 95%: 1.2, 20.9 RM 1298 AC vs. AA=5.5; IC95%: 1.1, 26.6, respectivamente. CONCLUSIONES: Nuestros resultados apoyan el papel de la mutación de la MTHFR como posible factor de riesgo para el AE, independientemente del consumo de vitaminas B.

  6. Do the MTHFR gene polymorphism and Down syndrome pregnancy ...

    Background: Down syndrome, the most common trisomy 21 arises from abnormal chromosomal segregation. The etiology includes genetic and acquired factors. The main genetic factor that is well appreciated for onset of Down syndrome pregnancy is MTHFR gene polymorphism. But till date, no final conclusion has arrived ...

  7. COMT and MTHFR polymorphisms interaction on cognition in schizophrenia: an exploratory study.

    Kontis, Dimitrios; Theochari, Eirini; Fryssira, Helen; Kleisas, Spyridon; Sofocleous, Christalena; Andreopoulou, Angeliki; Kalogerakou, Stamatina; Gazi, Anthia; Boniatsi, Lucia; Chaidemenos, Alexandros; Tsaltas, Eleftheria

    2013-03-14

    The investigation of the catechol-O-methyltransferase (COMT-[rs4680]) and methylenetetrahydrofolate reductase (MTHFR-[rs1801133]) polymorphisms' interaction might shed light into the pathogenetic mechanisms of the cognitive dysfunction in schizophrenia. In an exploratory study, we hypothesized that the MTHFR 677T allele which has been related to a hypoactive MTHFR enzyme would augment the unfavorable effects of COMT Val158 homozygosity which has been associated with COMT enzyme hyperfunction. 90 schizophrenia patients and 55 healthy volunteers were assessed on psychomotor speed, pattern and spatial recognition memory (SRM), spatial working memory (SWM), attentional flexibility and planning (Stockings of Cambridge-SOC). IQ scores in a random subgroup of patients were also measured. A significant COMT×MTHFR interaction on SWM (p=0.048) and planning (p=0.026) was revealed in both groups. Among COMT-Val/Val participants, MTHFR-C/C made more SWM errors (p=0.033) and solved fewer SOC problems (p=0.025) than MTHFR-T carriers. In patients, there was a significant COMT×MTHFR interaction on full scale IQ (p=0.035): among COMT-Met carriers, MTHFR-T carriers performed significantly worse than MTHFR-C/C (p=0.021), which was driven by a COMT×MTHFR interaction involving performance IQ (p=0.047). In conclusion, COMT and MTHFR polymorphisms interacted on cognition, suggesting that the MTHFR enzyme activity might moderate the effects of the COMT enzyme. In contrast to our initial hypothesis, the MTHFR T-allele attenuated the cognitive effects of COMT Val homozygosity. In this preliminary study, we propose that dopaminergic and intracellular methylation mechanisms could interact on cognitive deficits in schizophrenia. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  8. Association of MTHFR gene polymorphisms with breast cancer survival

    Martin, Damali N; Boersma, Brenda J; Howe, Tiffany M; Goodman, Julie E; Mechanic, Leah E; Chanock, Stephen J; Ambs, Stefan

    2006-01-01

    Two functional single nucleotide polymorphisms (SNPs) in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C, lead to decreased enzyme activity and affect chemosensitivity of tumor cells. We investigated whether these MTHFR SNPs were associated with breast cancer survival in African-American and Caucasian women. African-American (n = 143) and Caucasian (n = 105) women, who had incident breast cancer with surgery, were recruited between 1993 and 2003 from the greater Baltimore area, Maryland, USA. Kaplan-Meier survival and multivariate Cox proportional hazards regression analyses were used to examine the relationship between MTHFR SNPs and disease-specific survival. We observed opposite effects of the MTHFR polymorphisms A1298C and C677T on breast cancer survival. Carriers of the variant allele at codon 1298 (A/C or C/C) had reduced survival when compared to homozygous carriers of the common A allele [Hazard ratio (HR) = 2.05; 95% confidence interval (CI), 1.05–4.00]. In contrast, breast cancer patients with the variant allele at codon 677 (C/T or T/T) had improved survival, albeit not statistically significant, when compared to individuals with the common C/C genotype (HR = 0.65; 95% CI, 0.31–1.35). The effects were stronger in patients with estrogen receptor-negative tumors (HR = 2.70; 95% CI, 1.17–6.23 for A/C or C/C versus A/A at codon 1298; HR = 0.36; 95% CI, 0.12–1.04 for C/T or T/T versus C/C at codon 677). Interactions between the two MTHFR genotypes and race/ethnicity on breast cancer survival were also observed (A1298C, p interaction = 0.088; C677T, p interaction = 0.026). We found that the MTHFR SNPs, C677T and A1298C, were associated with breast cancer survival. The variant alleles had opposite effects on disease outcome in the study population. Race/ethnicity modified the association between the two SNPs and breast cancer survival

  9. Vitamina A e diabetes gestacional Vitamin A and gestational diabetes

    Larissa Queiroz de Lira

    2010-01-01

    Full Text Available O diabetes mellitus (DM, patologia de caráter crônico e evolutivo, atualmente apresenta configuração de epidemia mundial. O diabetes gestacional, condição associada tanto à resistência à insulina quanto à diminuição da função das células-β, também caracteriza-se pela elevada incidência em diversas populações e grupos étnicos. Recentemente têm sido constatadas fortes evidências para o comprometimento dos níveis de retinol de gestantes com DM em resposta à evolução dessa patologia. Essa condição torna as gestantes diabéticas mais propensas a apresentar estado bioquímico marginal ou deficiente em vitamina A quando comparadas com as de gestação saudável. Dessa maneira, tendo conhecimento sobre o papel fisiológico da vitamina A e as consequências do DM na gestação, esta revisão visa esclarecer o impacto da instalação do DM sobre os níveis de retinol dessas gestantes, bem como, as consequências que o estado de deficiência em vitamina A poderá causar para essas mulheres e para seus lactantes.Diabetes mellitus (DM a pathology with chronic evolution, has now acquired a connotation of global epidemic. Gestational diabetes, a condition associated with insulin resistance and decreased β-cells function is also characterized by a high incidence in different populations and ethnic groups. Recently strong evidence has been found for involvement of retinol levels of pregnant women with DM due to the pathology’s evolution. This condition makes these diabetics prone to have a marginal biochemical profile or a vitamin A deficiency when compared to those of healthy pregnant women. Therefore, with an awareness of the physiological role of vitamin A and consequences of diabetes during pregnancy, this review intends to clarify the impact of DM on retinol levels of these pregnant women and the consequences that vitamin A deficiency may cause to these women and their infants.

  10. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

    Huemer, Martina; Mulder-Bleile, Regina; Burda, Patricie; Froese, D. Sean; Suormala, Terttu; Ben Zeev, Bruria; Chinnery, Patrick F.; Dionisi-Vici, Carlo; Dobbelaere, Dries; Gokcay, Gulden; Demirkol, Muebeccel; Haeberle, Johannes; Lossos, Alexander; Mengel, Eugen; Morris, Andrew A.; Niezen-Koning, Klary E.; Plecko, Barbara; Parini, Rossella; Rokicki, Dariusz; Schiff, Manuel; Schimmel, Mareike; Sewell, Adrian C.; Sperl, Wolfgang; Spiekerkoetter, Ute; Steinmann, Beat; Taddeucci, Grazia; Trejo-Gabriel-Galan, Jose M.; Trefz, Friedrich; Tsuji, Megumi; Antonia Vilaseca, Maria; von Kleist-Retzow, Juergen-Christoph; Walker, Valerie; Zeman, Jiri; Baumgartner, Matthias R.; Fowler, Brian

    Background Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn defect disturbing the remethylation of homocysteine to methionine ( Methods Clinical, biochemical and treatment data was obtained from physicians by using a questionnaire. MTHFR activity was measured in primary

  11. MTHFR Gene C677T Polymorphism in Autism Spectrum Disorders

    Elif Funda Sener

    2014-01-01

    Full Text Available Aim. Autism is a subgroup of autism spectrum disorders, classified as a heterogeneous neurodevelopmental disorder and symptoms occur in the first three years of life. The etiology of autism is largely unknown, but it has been accepted that genetic and environmental factors may both be responsible for the disease. Recent studies have revealed that the genes involved in the folate/homocysteine pathway may be risk factors for autistic children. In particular, C677T polymorphism in the MTHFR gene as a possible risk factor for autism is still controversial. We aimed to investigate the possible effect of C677T polymorphism in a Turkish cohort. Methods. Autism patients were diagnosed by child psychiatrists according to DSM-IV and DSM-V criteria. A total of 98 children diagnosed as autistic and 70 age and sex-matched children who are nonautistic were tested for C677T polymorphism. This polymorphism was studied by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP methods. Results. MTHFR 677T-allele frequency was found to be higher in autistic children compared with nonautistic children (29% versus 24%, but it was not found statistically significant. Conclusions. We conclude that other MTHFR polymorphisms such as A1298C or other folate/homocysteine pathway genes may be studied to show their possible role in autism.

  12. GenBank

    U.S. Department of Health & Human Services — GenBank is the NIH genetic sequence database, an annotated collection of all publicly available DNA sequences. GenBank is designed to provide and encourage access...

  13. Sífilis gestacional: enfermedad de interés en salud pública, Córdoba-Colombia, 2015

    Concepción Amador Ahumada; Mónica Hanna Lavalle; Marilyn Villadiego Chamorro

    2017-01-01

    Introducción: Córdoba notificó en 2010, 240 casos de sífilis gestacional e inició una agresiva estrategia para controlar esta enfermedad de interés en salud pública; este estudio realizó un comparativo del comportamiento de sífilis gestacional. Materiales y Métodos: Estudio descriptivo, retrospectivo. Se analizó la información contenida en 97 casos de sífilis gestacional confirmados durante las primeras 15 semanas epidemiológicas de 2012 a 2015. Resultados: El grupo etario más afectado fue de...

  14. SÍFILIS GESTACIONAL: ENFERMEDAD DE INTERÉS EN SALUD PÚBLICA, CÓRDOBA-COLOMBIA, 2015

    Ahumada, Concepción Amador; Lavalle, Mónica Hanna; Chamorro, Marilyn Villadiego

    2017-01-01

    RESUMEN Introducción: Córdoba notificó en 2010, 240 casos de sífilis gestacional e inició una agresiva estrategia para controlar esta enfermedad de interés en salud pública; este estudio realizó un comparativo del comportamiento de sífilis gestacional. Materiales y Métodos: Estudio descriptivo, retrospectivo. Se analizó la información contenida en 97 casos de sífilis gestacional confirmados durante las primeras 15 semanas epidemiológicas de 2012 a 2015. Resultados: El grupo etario más af...

  15. Methylenetetrahydrofolate reductase (MTHFR) genotype, smoking habit, metastasis and oral cancer in Taiwan.

    Tsai, Chia-Wen; Hsu, Chia-Fang; Tsai, Ming-Hsui; Tsou, Yung-An; Hua, Chun-Hung; Chang, Wen-Shin; Lin, Cheng-Chieh; Bau, Da-Tian

    2011-06-01

    The aim of this study was to evaluate the association and interaction of genotypic polymorphism in methylenetetrahydrofolate reductase (MTHFR) with smoking habits and oral cancer in Taiwan. Two well-known polymorphic variants of MTHFR, C677T (rs1801133) and A1298C (rs1801131), were analyzed in association with oral cancer risk, and their joint effects with individual smoking habits on oral cancer risk are discussed. In total, 620 oral cancer patients and 620 non-cancer controls in central Taiwan were recruited and genotyped. The MTHFR C677T genotype, but not the A1298C, was differently distributed between the oral cancer and control groups. The T allele of MTHFR C677T was significantly more frequently found in controls than in oral cancer patients. Joint effects of smoking and MTHFR C677T genotype significantly affected oral cancer susceptibility. The MTHFR C677T CT and TT genotypes in association with smoking conferred lower odds ratios of 0.66 and 0.54 (95% confidence interval=0.49-0.82 and 0.39-0.86), respectively. Those patients with MTHFR C677T CT and TT genotypes also had a lower risk of oral cancer metastasis. MTHFR C677T genotype may have joint effects with smoking on oral carcinogenesis, and may be a useful biomarker for prediction and prognosis of oral cancer.

  16. Prevalence of MTHFR gene polymorphisms (C677T and A1298C) among Tamilians.

    Angeline, T; Jeyaraj, Nirmala; Granito, Selena; Tsongalis, Gregory J

    2004-10-01

    We have investigated the incidence of the C677T and A1298C methylene tetrahydrofolate reductase (MTHFR) gene single nucleotide polymorphisms (SNPs) in the South Indian Tamil Nadu population with a total number of 72 individuals. The MTHFR genotyping was performed using the polymerase chain reaction followed by restriction enzyme analysis. Homozygosity for the MTHFR A1298C SNP was detected in 15.3% (11/72) of the individuals tested, and 47.2% (34/72) were heterozygous for this SNP. Homozygosity for the C677T MTHFR SNP was detected in 1.38%(1/72), and the frequency of the C677T heterozygotes was 18.1%(13/72). When we analyzed the combined frequency of the two SNPs, the frequency of double heterozygosity was19.6%, and the frequency of double homozygosity was completely absent among the study group. The 'C' allele frequency for MTHFR A1298C was 0.389, and the 'T' allele frequency for C677T mutation was 0.104. Out of the 72 individuals included in the study, 52 were acute myocardial infarction (AMI) patients and 20 were healthy individuals with no documented history of heart disease. The results of this study indicate that the MTHFR A1298C SNP is more prevalent among the Tamilians when compared to the MTHFR C677T SNP, suggesting a possible role of MTHFR A1298C in the pathogenesis of heart diseases.

  17. Role of MTHFR A1298C gene polymorphism in the etiology of ...

    Various studies have performed to evaluate the role of MTHFR A1298C gene polymorphism to the risk of prostate cancer and the results were inconclusive and inconsistent. A meta-analysis of published case-control studies, up to December 2014, was performed to investigate the association between MTHFR A1298C gene ...

  18. Nacimiento de niños pequeños para la edad gestacional

    Mónica Elena Couceiro

    2017-05-01

    Full Text Available Señor editor: Ya que la prevalencia de niños pequeños para la edad gestacional (PEG es casi siempre inversamente proporcional al grado de desarrollo socioeconómico,aquí se presentan resultados de una investigación sobre todos los recién nacidos (40 454 entre 2002 y 2009 enel Hospital Público Materno Infantil de la provincia de Salta, al norte de Argentina, una de las zonas menos desarrolladas del país. En el último decenio nacieron, en promedio,30 000 niños al año: 68% en el sector público y 47% en este hospital. El objetivo fue determinar la influencia de factores preconcepcionales, concepcionales y del proceso de atención a madres residentes en el municipio capital en el peso para la edad gestacional de sus hijos...

  19. Mulheres com diabete melito gestacional : conhecendo a doença e convivendo com ela

    Joice Moreira Schmalfuss

    2011-01-01

    O diabete melito gestacional é um grupo de doenças metabólicas que pode afetar qualquer mulher e, quando não controlado, causar consequências graves para o binômio mãe/bebê. Trata-se de uma pesquisa qualitativa, do tipo descritivoexploratório, que analisou o que as mulheres com diabete melito gestacional conhecem sobre a doença e como elas convivem com essa condição. O estudo foi realizado em um hospital universitário do município de Porto Alegre/RS, por meio de entrevistas com 25 gestantes d...

  20. Maternal MTHFR polymorphisms and risk of spontaneous abortion Polimorfismos maternos MTHFR y riesgo de aborto espontáneo

    María del Rosario Rodríguez-Guillén; Luisa Torres-Sánchez; Jia Chen; Marcia Galván-Portillo; Julia Blanco-Muñoz; Miriam Aracely Anaya; Irma Silva-Zolezzi; María A Hernández-Valero; Lizbeth López-Carrillo

    2009-01-01

    OBJECTIVE: To asses the association between intake of folate and B vitamins and the incidence of spontaneous abortion (SA) according to the maternal methylenetetrahydrofolate reductase (MTHFR) polymorphisms (677 C>T and 1298 A>C). MATERIAL AND METHODS: We conducted a nested case-control study within a perinatal cohort of women recruited in the state of Morelos, Mexico. Twenty-three women with SA were compared to 74 women whose pregnancy survived beyond week 20th. Intake of folate and B vitami...

  1. GenBank

    Benson, Dennis A.; Karsch-Mizrachi, Ilene; Lipman, David J.; Ostell, James; Rapp, Barbara A.; Wheeler, David L.

    2002-01-01

    The GenBank sequence database incorporates publicly available DNA sequences of more than 105 000 different organisms, primarily through direct submission of sequence data from individual laboratories and large-scale sequencing projects. Most submissions are made using the BankIt (web) or Sequin programs and accession numbers are assigned by GenBank staff upon receipt. Data exchange with the EMBL Data Library and the DNA Data Bank of Japan helps ensure comprehensive worldwide coverage. GenBank...

  2. Lack of association between the MTHFR (C677T) polymorphism and atopic disease

    Thuesen, Betina Heinsbaek; Husemoen, Lise Lotte Nystrup; Fenger, Mogens

    2009-01-01

    -tetrahydrofolate reductase (MTHFR)-gene, a well-known marker of impaired folate metabolism. OBJECTIVES: The aim of this study was to investigate the association between the MTHFR (C677T) polymorphism and different outcome variables of asthma and atopic disease. METHODS: This study was a population-based study of 1189...... and symptoms of allergy and asthma. In addition, participants were genotyped for the MTHFR (C677T) polymorphism. RESULTS: None of the examined outcomes were significantly associated with the MTHFR (C677T) polymorphism. CONCLUSIONS: The results of this study using detailed objective markers of atopic disease do......BACKGROUND: Impaired folate metabolism has been suggested as a potential risk factor for the development of asthma and atopic disease. However, there have been conflicting reports on the potential association between atopic disease and a common polymorphism of the methylene...

  3. Interactive effect of MTHFR and ADRA2A gene polymorphisms on pathogenesis of schizophrenia

    Lochman, J.; Plesník, J.; Janout, V.; Povová, J.; Míšek, Ivan; Dvořáková, D.; Šerý, Omar

    2013-01-01

    Roč. 34, č. 8 (2013), s. 792-797 ISSN 0172-780X Institutional support: RVO:67985904 Keywords : MTHFR * COMT * ADRA2A * schizophrenia Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 0.935, year: 2013

  4. NUTRIGENOMIC ANALYSIS OF C677T MUTATION OF MTHFR GENE IN SLOVAK POPULATION

    Jozef Bulla

    2011-04-01

    Full Text Available Total of 124 individuals originated from Slovak Republic has been nutrignomically analysed. Analysis was focused to mutation C677T of MTHFR gene detection and analysis of mutant genotypes frequency. Observed frequency of allele 677C was 0.6998 and allelic frequency of mutant variant 677T was 0.3992. Genotype frequency of mutant heterozygotes with 71% activity of MTHFR enzyme was 0,391 and mutant homozygotes with 33% MTHFR enzyme activity was 0.153. Result shows 64% of Slovak has decreased activity of enzyme MTHFR, and 14.3% of Slovak has predisposition to cancer, cardio vascular diseases, loss of fertility and many others complications according to improper nutrition, low folic acid and B12 vitamin intake.  doi:10.5219/136

  5. Association of MTHFR polymorphisms with nsCL/P in Chinese ...

    Xianrong Xu

    2016-04-26

    Apr 26, 2016 ... Aim: In this study, we aim to investigate the association between the polymorphism in MTHFR .... DNA extraction, library preparation, and sequencing. Genomic ..... comparative study in Mexican, West African, and European.

  6. Genetic variants in 3'-UTRs of MTHFR in the pregnancies complicated with preeclampsia and bioinformatics analysis.

    Mohammadpour-Gharehbagh, Abbas; Salimi, Saeedeh; Keshavarzi, Farshid; Saeidian, Foozieh; Mousavi, Mahdieh; Teimoori, Batool; Esmaeilipour, Maryam; Mokhtari, Mojgan

    2018-01-01

    Preeclampsia (PE) as a pregnancy-specific disorder is the major cause of mortality and morbidity of mothers and fetuses. This study attempts to investigate the possible association between the 2572C>A (rs4846049) and 4869C>G (rs1537514) polymorphisms in the 3'- untranslated region of MTHFR gene and the risk of PE. A total of 198 patients diagnosed with PE and 171 unrelated, age matched healthy pregnant women, were recruited for this case-control study. The MTHFR 2572C>A and 4869C>G genotyping was performed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The CG genotype of MTHFR 4869C>G was associated with decreased risk of PE, and this genotype was found to be a protective factor for PE susceptibility. There was no significant difference in the genotypes of MTHFR 2572C>A polymorphism between PE patients and control group. The frequency of combined AC/CG genotypes of MTHFR 2572C>A and 4869C>G polymorphisms were less frequent in PE patients and were associated with a lower risk of PE. The C-G and A-G haplotypes of MTHFR 2572C>A and 4869C>G polymorphisms were significantly lower in PE patients. In conclusion, the CG genotype of MTHFR 4869C>G polymorphism was associated with a lower risk of PE. No association was found between MTHFR 2572C>A polymorphism and PE. © 2017 Wiley Periodicals, Inc.

  7. Genetic variations in MTHFR and esophageal squamous cell carcinoma susceptibility in Chinese Han population.

    Tang, Weifeng; Zhang, Sheng; Qiu, Hao; Wang, Lixin; Sun, Bin; Yin, Jun; Gu, Haiyong

    2014-05-01

    Esophageal cancer is the sixth most common cancer worldwide. Esophageal squamous cell carcinoma (ESCC) is a fatal malignancy associated with low 5-year survival rate. The aim of this study was to assess the association between methylenetetrahydrofolate reductase (MTHFR) tagging single nucleotide polymorphisms (SNPs) rs1801133 C>T, rs3753584 A>G, rs4845882 G>A, rs4846048 A>G and rs9651118 T>C genotypes and ESCC susceptibility in a hospital-based case-control study. We conducted genotyping analyses for these five SNPs with 629 ESCC cases and 686 controls in a Chinese Han population. Ligation detection reaction method was used to identify genotypes of these MTHFR SNPs. Our results demonstrated that MTHFR rs1801133 C>T was associated with the risk of ESCC; however, MTHFR rs4845882 G>A and rs4846048 A>G SNPs were associated with the decreased risk of ESCC, and MTHFR rs3753584 A>G and rs9651118 T>C SNPs were not associated with ESCC risk. Our findings suggests that MTHFR rs1801133 C>T, rs4845882 G>A and rs4846048 A>G SNPs may be genetic modifiers for developing ESCC in Chinese Han population.

  8. Evaluation of Factor V Leiden, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C gene polymorphisms in retinopathy of prematurity in a Turkish cohort.

    Aydin, Hatip; Gunay, Murat; Celik, Gokhan; Gunay, Betul Onal; Aydin, Umeyye Taka; Karaman, Ali

    2016-12-01

    To assess Factor V Leiden (FVL) (rs6025), Prothrombin G20210A (rs1799963), MTHFR C677T (rs1801133), and MTHFR A1298C (rs1801131) gene mutations as risk factors in the development of retinopathy of prematurity (ROP). A total of 105 children were included in this cross-sectional study. Patients were divided into two groups. The study group consisted of 55 infants with a history of ROP and the control group comprised 50 healthy infants with term birth. All subjects were screened for the presence of certain mutations (FVL, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C) by Real-Time PCR at 1 year of age. The mean gestational age (GA) and birth weight (BW) of the study group were, 28.65 ± 2.85 weeks and 1171 ± 385.74 g, respectively. There were no significant differences of genotype and allele frequency of Prothrombin G20210A, MTHFR A1298C and MTHFR C677T between the study and control groups (p > 0.05). Eight children (14.5 %) had heterozygous and one child (1.8%) had homozygous FVL mutation in the study group. One child (2%) in the control group had heterozygous FVL mutation. There was statistically significant differences of FVL allele and genotype frequencies between the groups (p < 0.05). The prevalence of FVL polymorphism (16.3 %) was higher in ROP patients than control subjects in this Turkish cohort. We suggest a possible association of FVL mutation with ROP at the end of the study.

  9. Comportamento de lactentes nascidos a termo pequenos para a idade gestacional no primeiro trimestre da vida

    Mello,Bernadete Balanin A.; Gonçalves,Vanda M. Gimenes; Souza,Elisabete Abib P.

    2004-01-01

    O objetivo foi comparar o comportamento de lactentes nascidos a termo com peso adequado (AIG) a lactantes pequenos para a idade gestacional (PIG), no primeiro trimestre de vida. A amostra foi de 20 lactentes, avaliados no 1º, 2º e 3º meses. Foram utilizadas as Escalas Bayley de Desenvolvimento Infantil - II, com ênfase na Escala de Classificação do Comportamento (ECC). Houve diferença significativa entre os grupos no 2º mês, com maior número de lactentes PIG classificados como alterados na EC...

  10. Vínculo prenatal: la importancia de los estilos vinculares en el cuidado gestacional

    Villa González, Isabel Cristina; Giraldo Vásquez, Isabel Cristina; Ramírez Velásquez, María Adelaida; Orozco Henao, Gabriela; Blanco Carmona, Lina Marcela

    2016-01-01

    El presente artículo de revisión busca identificar antecedentes yaproximaciones teóricas contemporáneas sobre el tema del ‘vínculoafectivo’ o ‘estilo vincular personal’ y su relación con el ‘vínculo prenatal’que establecen las mujeres en estado de embarazo con sus bebésen gestación. Así mismo, identificar aspectos relevantes sobre esta relacióny los cuidados de la salud gestacional, que sirvan de sustento ala innovación pedagógica de las acciones en salud. Es un estudio cualitativode investig...

  11. Concepções Sobre Morte e Luto: Experiência Feminina Sobre a Perda Gestacional

    Lemos, Luana Freitas Simões; Cunha, Ana Cristina Barros da

    2015-01-01

    Resumo A morte do filho antes do nascimento ou óbito fetal representa, geralmente, grande perda para pais e familiares constituindo acontecimento traumatizante, lembrado e temido em uma próxima gestação. A involução da gestação coloca em suspenso os sonhos, as esperanças, as expectativas e as esperas existenciais que os pais normalmente depositam no nascimento da criança. Diante disso, nosso objetivo foi estudar como mulheres vivenciam e enfrentam a situação de perda gestacional, com base na ...

  12. Análisis espacial de la anemia gestacional en el Perú, 2015

    Akram Hernández-Vásquez

    Full Text Available Objetivos. Establecer las prevalencias regionales e identificar conglomerados distritales con altas prevalencias deanemia en gestantes atendidas en los establecimientos de salud públicos del Perú en el 2015. Materiales y métodos. Se realizó un estudio ecológico de datos de gestantes con anemia, registrados en el Sistema de Información del Estado Nutricional (SIEN, que fueron atendidas en 7703 establecimientos públicos de salud durante el 2015. Se calcularon prevalencias de anemia gestacional regionales y distritales. Mediante el índice de Moran se identificaron conglomerados distritales con alta prevalencia de anemia gestacional. Resultados. Se recolectó información de 311 521 gestantes, distribuidas en 1638 distritos del Perú. La prevalencia nacional de anemia fue de 24,2% (IC 95%: 24,0-24,3 y 30,5% en el área rural vs. 22,0% en el área urbana. Las regiones de Huancavelica (45,5%; IC 95%: 44,2-46,7, Puno (42,8%; IC 95%: 41,9-43,7, Pasco (38,5%; IC 95%: 36,9-40,0, Cusco (36,0%; IC 95%: 35,3-36,8 y Apurímac (32,0%; IC 95%: 30,8-33,1 tuvieron las mayores prevalencias de anemia. El índice local de Moran identificó 202 distritos (12,3% (44 urbanos y 158 rurales de alta prioridad (alto-alto o hot spots situados en Ancash, Apurímac, Arequipa, Ayacucho, Cajamarca, Cusco, Huancavelica, Huánuco, Junín, La Libertad, Lima, Pasco y Puno, que muestran conglomerados distritales con altas prevalencias. Conclusiones. La anemia gestacional en Perú concentra sus mayores prevalencias en las áreas rural y sur de la sierra. Los conglomerados distritales con altas prevalencias de anemia gestacional coinciden con las zonas de alta prevalencia regional.

  13. Análisis espacial de la anemia gestacional en el Perú, 2015

    Hernández-Vásquez, Akram; Azañedo, Diego; Antiporta, Daniel A; Cortés, Sandra

    2017-01-01

    Objetivos. Establecer las prevalencias regionales e identificar conglomerados distritales con altas prevalencias deanemia en gestantes atendidas en los establecimientos de salud públicos del Perú en el 2015. Materiales y métodos. Se realizó un estudio ecológico de datos de gestantes con anemia, registrados en el Sistema de Información del Estado Nutricional (SIEN), que fueron atendidas en 7703 establecimientos públicos de salud durante el 2015. Se calcularon prevalencias de anemia gestacional...

  14. Diabetes gestacional riesgo de desarrollar diabetes mellitus y factores de riesgo cardiovascular a medio plazo /

    Albareda i Riera, Maria Mercè

    2002-01-01

    Descripció del recurs: 17 abril 2002 Títol obtingut de la portada digitalitzada A pesar de que el concepto de diabetes gestacional (DMG) como lo entendemos actualmente data de 1979, las primeras referencias que nos constan son del siglo XIX (Bennewitz 1824, Duncan 1882), y antes de 1979 ya se hab'an publicado estudios de cribaje, diagnóstico y mortalidad perinatal (Hoet 1954, Wilkerson 1957, O'Sullivan y Mahan 1964, Pedersen 1967, Mestman 1971). En la actualidad, la DMG se define como l...

  15. Ejercicio y prevención de obesidad y diabetes mellitus gestacional

    Márquez A,Jorge Jaime; García V,Victoria; Ardila C,Ricardo

    2012-01-01

    La obesidad y la diabetes tipo 2 están aumentando a nivel mundial y generan gran morbilidad y mortalidad, y afectan al paciente, la familia y al sistema de salud. Los niveles bajos de actividad física están contribuyendo con la epidemia de obesidad y diabetes tipo 2 en mujeres en edad fértil. La mayoría de las mujeres siguen el sedentarismo o suspende el ejercicio cuando se dan cuenta del embarazo, lo cual predispone al desarrollo de diabetes gestacional y a ganancia excesiva de peso durante ...

  16. Las grasas en la dieta materna, edad gestacional y peso al nacer

    Rodríguez Enríquez, Yanik; Pita Rodríguez, Gisela; González, Isabel Martín; Ferret Martínez, Ana; Puentes Márquez, Ileana

    2004-01-01

    Las grasas en la dieta materna tienen funciones determinantes en el desarrollo de un embarazo normal, en la estructuración de un adecuado flujo útero-placentario, la formación de membranas celulares, el crecimiento intrauterino del feto y el desarrollo del sistema nervioso central. El objetivo de este trabajo fue medir la relación entre la composición de ácidos grasos en la dieta materna atendiendo a la edad gestacional y el peso al nacer de los recién nacidos. Se realizó un estudio transvers...

  17. Diabetes gestacional na perspectiva de mulheres grávidas hospitalizadas

    Araújo, Márcio Flávio Moura; Pessoa, Sarah Maria Fraxe; Damasceno, Marta Maria Coelho; Zanetti, Maria Lúcia

    2013-01-01

    Estudo qualitativo fenomenológico, que teve como objetivo compreender o significado das experiências vivenciadas por mulheres com diabetes mellitus gestacional. Participaram 12 pacientes internadas em uma maternidade de Fortaleza-CE, Brasil, que manifestaram seus sentimentos e percepções por meio de entrevista aberta e desenhos. O material empírico foi transcrito na íntegra e, posteriormente, organizado e analisado pelo método fenomenológico. Os resultados evidenciaram dois temas: (1) Vivenci...

  18. Candidiasis sistémica en un feto de 12 semanas de edad gestacional

    Sánchez Baracaldo, Lilia María; Müller, Edith Ángel

    2011-01-01

    Presentamos el caso de un feto de 12 semanas de cdad gestacional en el cual el estudio de anatomia patológica documento un proceso sistémico por Candida con compromiso de la piel y los pulmones. Llamamos la atencton sobre la posibilidad que tiene el feto de adquirir este tipo de lnfección durante el embarazo, ya que las vulvovaginitis por Candida son frecuentes durante este periodo. Igualmente destacamos la importancia del examen anatomopatclógico que nos permitió lIegar al diagnóstico de est...

  19. Postural control of small for gestational age infants born at term Controle postural de lactentes nascidos a termo pequenos para a idade gestacional

    D Campos

    2007-02-01

    Full Text Available OBJECTIVE: This study compared the postural control of small (SGA and appropriate (AGA for gestational age infants born at term, at the ages of 3, 6, 9 and 12 months. METHOD: This was a cohort study of infants born at term, with birth weight less than the 10th percentile for the SGA group and between the 10th and 90th percentiles for the AGA group. Infants with genetic syndromes, malformations, congenital infections and internment in neonatal intensive care unit were excluded. The evaluation instrument was the Alberta Infant Motor Scale. RESULTS: Comparison of the SGA and AGA groups did not show any significant differences (p>0.05 at the assessment times. However, the postural control of the SGA group was influenced by the gestational age (r=-0.83; p= 0.006 and 5th minute Apgar (r= 0.79; p= 0.01 in the 3rd month, and by maternal occupation (r= 0.67; p= 0.01 in the 6th month. CONCLUSION: It was concluded that the postural control was similar in the groups. However, the postural control of the SGA group was influenced by biological and environmental factors.OBJETIVO: Este estudo teve por objetivo comparar o controle postural de lactentes nascidos a termo, pequenos (PIG e adequados para a idade gestacional (AIG nos 3º, 6º, 9º e 12º meses. MÉTODO: Estudo longitudinal de lactentes nascidos a termo, com peso de nascimento menor que o percentil 10 para o grupo PIG e entre o percentil 10 e 90 para o grupo AIG. Síndromes genéticas, más-formações, infecções congênitas e internados em unidade de terapia intensiva neonatal foram excluídos. O instrumento de avaliação foi Alberta Infant Motor Scale. RESULTADOS: A comparação do grupo PIG e AIG não mostrou diferença significativa (p> 0,05 nos meses avaliados. Entretanto, o controle postural do grupo PIG foi influenciado pela idade gestacional (r= -0,83/p= 0,006 e Apgar de 5' (r= 0,79/p= 0,01 no 3º mês; e pela ocupação materna (r= 0,67/p= 0,01 no 6º mês. CONCLUSÃO: Concluiu-se que o

  20. Tratamiento de la sifilis gestacional y prevencion de la sifilis congenita en un hospital de iii nivel. bogota, colombia.

    Rubio Romero, Jorge Andrés

    2013-01-01

    RESUMENObjetivo: evaluar el cumplimiento de las recomendaciones del Centro de Control de Enfermedades (CDC) para el tratamiento en casos intrahospitalarios de sífilis gestacional y congénita. Metodología: estudio retrospectivo basado en registros de notificación e historias clínicas de gestantes y neonatos de un hospital terciario público de Bogotá entre  enero 1 y Octubre 31 de 2010. Se describen las variables demográficas de las mujeres con diagnóstico de sífilis gestacional y sus hijos, el...

  1. GenBank

    Benson, Dennis A.; Karsch-Mizrachi, Ilene; Lipman, David J.; Ostell, James; Wheeler, David L.

    2006-01-01

    GenBank (R) is a comprehensive database that contains publicly available nucleotide sequences for more than 240 000 named organisms, obtained primarily through submissions from individual laboratories and batch submissions from large-scale sequencing projects. Most submissions are made using the web-based BankIt or standalone Sequin programs and accession numbers are assigned by GenBank staff upon receipt. Daily data exchange with the EMBL Data Library in Europe and the DNA Data Bank of Japan...

  2. GenBank

    Benson, Dennis A.; Karsch-Mizrachi, Ilene; Lipman, David J.; Ostell, James; Sayers, Eric W.

    2008-01-01

    GenBank? is a comprehensive database that contains publicly available nucleotide sequences for more than 300 000 organisms named at the genus level or lower, obtained primarily through submissions from individual laboratories and batch submissions from large-scale sequencing projects. Most submissions are made using the web-based BankIt or standalone Sequin programs, and accession numbers are assigned by GenBank? staff upon receipt. Daily data exchange with the European Molecular Biology Labo...

  3. GenBank

    Benson, Dennis A.; Cavanaugh, Mark; Clark, Karen; Karsch-Mizrachi, Ilene; Lipman, David J.; Ostell, James; Sayers, Eric W.

    2012-01-01

    GenBank? (http://www.ncbi.nlm.nih.gov) is a comprehensive database that contains publicly available nucleotide sequences for almost 260 000 formally described species. These sequences are obtained primarily through submissions from individual laboratories and batch submissions from large-scale sequencing projects, including whole-genome shotgun (WGS) and environmental sampling projects. Most submissions are made using the web-based BankIt or standalone Sequin programs, and GenBank staff assig...

  4. Diabetes gestacional na perspectiva de mulheres grávidas hospitalizadas

    Márcio Flávio Moura Araújo

    Full Text Available Estudo qualitativo fenomenológico, que teve como objetivo compreender o significado das experiências vivenciadas por mulheres com diabetes mellitus gestacional. Participaram 12 pacientes internadas em uma maternidade de Fortaleza-CE, Brasil, que manifestaram seus sentimentos e percepções por meio de entrevista aberta e desenhos. O material empírico foi transcrito na íntegra e, posteriormente, organizado e analisado pelo método fenomenológico. Os resultados evidenciaram dois temas: (1 Vivenciando experiências que trazem felicidade e bem-estar e (2 Vivenciando experiências que provocam sofrimento. Este estudo fenomenológico, ao possibilitar apreender a experiência das mulheres com diabetes mellitus gestacional, contribui para o planejamento e a implementação de programas de intervenção baseados em um modelo de saúde participativo, com vistas a priorizar os aspectos subjetivos envolvidos na gravidez de risco.

  5. Diabetes gestacional na perspectiva de mulheres grávidas hospitalizadas

    Márcio Flávio Moura Araújo

    2013-04-01

    Full Text Available Estudo qualitativo fenomenológico, que teve como objetivo compreender o significado das experiências vivenciadas por mulheres com diabetes mellitus gestacional. Participaram 12 pacientes internadas em uma maternidade de Fortaleza-CE, Brasil, que manifestaram seus sentimentos e percepções por meio de entrevista aberta e desenhos. O material empírico foi transcrito na íntegra e, posteriormente, organizado e analisado pelo método fenomenológico. Os resultados evidenciaram dois temas: (1 Vivenciando experiências que trazem felicidade e bem-estar e (2 Vivenciando experiências que provocam sofrimento. Este estudo fenomenológico, ao possibilitar apreender a experiência das mulheres com diabetes mellitus gestacional, contribui para o planejamento e a implementação de programas de intervenção baseados em um modelo de saúde participativo, com vistas a priorizar os aspectos subjetivos envolvidos na gravidez de risco.

  6. Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR is associated with ADHD in myelomeningocele patients.

    Catherine J Spellicy

    Full Text Available The objective of this study was to examine the relation between the 5, 10-methylenetetrahydrofolate reductase (MTHFR gene and behaviors related to attention- deficit/hyperactivity disorder (ADHD in individuals with myelomeningocele. The rationale for the study was twofold: folate metabolizing genes, (e.g. MTHFR, are important not only in the etiology of neural tube defects but are also critical to cognitive function; and individuals with myelomeningocele have an elevated incidence of ADHD. Here, we tested 478 individuals with myelomeningocele for attention-deficit hyperactivity disorder behavior using the Swanson Nolan Achenbach Pelham-IV ADHD rating scale. Myelomeningocele participants in this group for whom DNAs were available were genotyped for seven single nucleotide polymorphisms (SNPs in the MTHFR gene. The SNPs were evaluated for an association with manifestation of the ADHD phenotype in children with myelomeningocele. The data show that 28.7% of myelomeningocele participants exhibit rating scale elevations consistent with ADHD; of these 70.1% had scores consistent with the predominantly inattentive subtype. In addition, we also show a positive association between the SNP rs4846049 in the 3'-untranslated region of the MTHFR gene and the attention-deficit hyperactivity disorder phenotype in myelomeningocele participants. These results lend further support to the finding that behavior related to ADHD is more prevalent in patients with myelomeningocele than in the general population. These data also indicate the potential importance of the MTHFR gene in the etiology of the ADHD phenotype.

  7. MTHFR 677TT genotype and disease risk: is there a modulating role for B-vitamins?

    Reilly, R; McNulty, H; Pentieva, K; Strain, J J; Ward, M

    2014-02-01

    Methylenetetrahydrofolate reductase (MTHFR) is a critical folate-metabolising enzyme which requires riboflavin as its co-factor. A common polymorphism (677C→T) in the MTHFR gene results in reduced MTHFR activity in vivo which in turn leads to impaired folate metabolism and elevated homocysteine concentrations. Homozygosity for this polymorphism (TT genotype) is associated with an increased risk of a number of conditions including heart disease and stroke, but there is considerable variability in the extent of excess risk in various reports. The present review will explore the evidence which supports a role for this polymorphism as a risk factor for a number of adverse health outcomes, and the potential modulating roles for B-vitamins in alleviating disease risk. The evidence is convincing in the case which links this polymorphism with hypertension and hypertensive disorders of pregnancy, particularly preeclampsia. Furthermore, elevated blood pressure was found to be highly responsive to riboflavin intervention specifically in individuals with the MTHFR 677TT genotype. Future intervention studies targeted at these genetically predisposed individuals are required to further investigate this novel gene-nutrient interaction. This polymorphism has also been associated with an increased risk of neural tube defects (NTD) and other adverse pregnancy outcomes; however, the evidence in this area has been inconsistent. Preliminary evidence has suggested that there may be a much greater need for women with the MTHFR 677TT genotype to adhere to the specific recommendation of commencing folic acid prior to conception for the prevention of NTD, but this requires further investigation.

  8. C677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian population.

    Romero-Sánchez, Consuelo; Gómez-Gutierrez, Alberto; Gómez, Piedad Elena; Casas-Gomez, Maria Consuelo; Briceño, Ignacio

    2015-01-01

    Abnormal levels of the enzyme methylenetetrahydrofolate reductase (MTHFR) are associated with an increased risk of both cardiovascular and cerebrovascular disease and higher concentrations of homocysteine. Abnormal levels are also related to birth defects, pregnancy complications, cancer and toxicity to methotrexate (MTX). Polymorphisms of MTHFR affect the activity of the enzyme. Genetic associations have been related to treatment efficacy. To establish the frequency of the C> T polymorphism at nucleotide 677 of the MTHFR gene in a group of Colombian individuals. Data from pharmacogenetic microarrays that include MTX sensibility-associated polymorphisms were retrospectively collected (Pathway Genomics(®)). The frequency of the C> T MTHFR rs1801133 marker polymorphism was analyzed. Microarray data from 68 men and 84 women were analyzed. Comparisons of genotype C/C vs. C/T and T/T were statistically significantly different (p= 0.00, p= 0.026, respectively), as were C/T and T / T (p= 0.0001). Results for the C/C and C/T genotypes in a Colombian population are similar to other previously studied groups of healthy subjects. Subjects from our population might be at risk of developing diseases associated with MTHFR polymorphisms and might present toxicity and adverse effects if treated with MTX, which suggests the need to evaluate therapeutic alternatives based on individual pharmacogenetic studies.

  9. C677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian population

    Gómez-Gutierrez, Alberto; Gómez, Piedad Elena; Casas-Gomez, Maria Consuelo; Briceño, Ignacio

    2015-01-01

    Introduction: Abnormal levels of the enzyme methylenetetrahydrofolate reductase (MTHFR) are associated with an increased risk of both cardiovascular and cerebrovascular disease and higher concentrations of homocysteine. Abnormal levels are also related to birth defects, pregnancy complications, cancer and toxicity to methotrexate (MTX). Polymorphisms of MTHFR affect the activity of the enzyme. Genetic associations have been related to treatment efficacy. Objective: To establish the frequency of the C> T polymorphism at nucleotide 677 of the MTHFR gene in a group of Colombian individuals. Methods: Data from pharmacogenetic microarrays that include MTX sensibility-associated polymorphisms were retrospectively collected (Pathway Genomics®). The frequency of the C> T MTHFR rs1801133 marker polymorphism was analyzed. Results: Microarray data from 68 men and 84 women were analyzed. Comparisons of genotype C/C vs. C/T and T/T were statistically significantly different (p= 0.00, p= 0.026, respectively), as were C/T and T / T (p= 0.0001). Conclusions: Results for the C/C and C/T genotypes in a Colombian population are similar to other previously studied groups of healthy subjects. Subjects from our population might be at risk of developing diseases associated with MTHFR polymorphisms and might present toxicity and adverse effects if treated with MTX, which suggests the need to evaluate therapeutic alternatives based on individual pharmacogenetic studies. PMID:26309343

  10. Meta-Prediction of MTHFR Gene Polymorphisms and Air Pollution on the Risk of Hypertensive Disorders in Pregnancy Worldwide.

    Yang, Ya-Ling; Yang, Hsiao-Ling; Shiao, S Pamela K

    2018-02-13

    Hypertensive disorders in pregnancy (HDP) are devastating health hazards for both women and children. Both methylenetetrahydrofolate reductase ( MTHFR ) gene polymorphisms and air pollution can affect health status and result in increased risk of HDP for women. The major objective of this study was to investigate the effect of MTHFR polymorphisms, air pollution, and their interaction on the risk of HDP by using meta-predictive analytics. We searched various databases comprehensively to access all available studies conducted for various ethnic populations from countries worldwide, from 1997 to 2017. Seventy-one studies with 8064 cases and 13,232 controls for MTHFR C677T and 11 studies with 1425 cases and 1859 controls for MTHFR A1298C were included. MTHFR C677T homozygous TT (risk ratio (RR) = 1.28, p worldwide. Additionally, in countries with higher air pollution levels, the pregnant women with wild-type CC MTHFR 677 had a protection effect against HDP ( p = 0.014), whereas, the homozygous TT of MTHFR C677T polymorphism was a risk genotype for developing HDP. Air pollution level is an environmental factor interacting with increased MTHFR C677T polymorphisms, impacting the susceptibility of HDP for women.

  11. Sífilis gestacional: enfermedad de interés en salud pública, Córdoba-Colombia, 2015

    Concepción Amador Ahumada

    2017-01-01

    Cómo citar este artículo: Amador C, Hanna M, Villadiego M. Sífilis gestacional: enfermedad de interés en salud pública, Córdoba-Colombia, 2015.Rev Cuid. 2017; 8(1: 1449-58. http://dx.doi.org/10.15649/cuidarte.v8i1.350

  12. Análise Comparativa de Testes Diagnósticos para Diabete Gestacional

    Katz Leila

    2002-01-01

    Full Text Available Objetivos: avaliar os resultados maternos e perinatais de pacientes submetidas à curva glicêmica com 100 g de glicose, de acordo com três diferentes critérios diagnósticos. Métodos: realizou-se estudo do tipo corte transversal, incluindo 210 pacientes assistidas no Instituto Materno-Infantil de Pernambuco (IMIP, submetidas durante a gravidez ao teste oral de tolerância à glicose 100 g (TOTG, com gestação única, sem história de diabete ou intolerância aos carboidratos prévia à gestação e cujo parto foi assistido no IMIP. Estas foram classificadas nos grupos: controles, pacientes com hiperglicemia leve, diabete gestacional (DG de acordo com os critérios de Bertini, de Carpenter e Coustan e do "National Diabetes Data Group" (NDDG. Analisaram-se esses grupos, buscando-se associação entre a classificação das pacientes nos grupos e a presença de pré-eclâmpsia, recém-nascidos grandes para a idade gestacional (GIG e freqüência de cesarianas e natimortos, comparando-se ainda as médias de peso ao nascer. Resultados: a freqüência de DG de acordo com os critérios de Bertini, de Carpenter e Coustan e do NDDG foi de 48,1, 18,1, e 9%, respectivamente, ao passo que a freqüência de hiperglicemia leve foi de 10,5%. A idade das pacientes aumentou progressivamente de acordo com o maior grau de intolerância aos carboidratos. Os grupos não diferiram quanto à freqüência de GIG, cesarianas, natimortos e médias de peso ao nascer. Verificou-se aumento significativo da incidência de pré-eclâmpsia em pacientes com hiperglicemia e DG por Carpenter e Coustan, mas não nos outros grupos. Conclusões: a prevalência de diabete gestacional encontrada variou entre 9 e 48%, de acordo com os diversos critérios, mas não se observaram diferenças significativas nos resultados maternos e perinatais entre os grupos. Critérios muito rígidos de diagnóstico podem levar a diagnóstico excessivo, sem melhora subseqüente do progn

  13. The clinical impact of MTHFR polymorphism on the vascular complications of sickle cell disease

    F. Moreira Neto

    2006-10-01

    Full Text Available Sickle cell disease (SCD is one of the most common inherited diseases in the world and the patients present notorious clinical heterogeneity. It is known that patients with SCD present activation of the blood coagulation and fibrinolytic systems, especially during vaso-occlusive crises, but also during the steady state of the disease. We determined if the presence of the factor V gene G1691A mutation (factor V Leiden, the prothrombin gene G20210A variant, and methylenetetrahydrofolate reductase (MTHFR C677T polymorphism may be risk factors for vascular complications in individuals with SCD. We studied 53 patients with SCD (60% being women, 29 with SS (sickle cell anemia; 28 years, range: 13-52 years and 24 with SC (sickle-hemoglobin C disease; 38.5 years, range: 17-72 years hemoglobinopathy. Factor V Leiden, MTHFR C677T polymorphism, and prothrombin G20210A variant were identified by PCR followed by further digestion of the PCR product with specific endonucleases. The following vascular complications were recorded: stroke, retinopathy, acute thoracic syndrome, and X-ray-documented avascular necrosis. Only one patient was heterozygous for factor V Leiden (1.8% and there was no prothrombin G20210A variant. MTHFR 677TT polymorphism was detected in 1 patient (1.8% and the heterozygous form 677TC was observed in 18 patients (34%, 9 with SS and 9 with SC disease, a prevalence similar to that reported by others. No association was detected between the presence of the MTHFR 677T allele and other genetic modulation factors, such as alpha-thalassemia, ß-globin gene haplotype and fetal hemoglobin. The presence of the MTHFR 677T allele was associated with the occurrence of vascular complications in SCD, although this association was not significant when each complication was considered separately. In conclusion, MTHFR C677T polymorphism might be a risk factor for vascular complications in SCD.

  14. Evaluation of High Resolution Melting for MTHFR C677T Genotyping in Congenital Heart Disease.

    Ying Wang

    Full Text Available High resolution melting (HRM is a simple, flexible and low-cost mutation screening technique. The methylenetetrahydrofolate reductase (MTHFR gene encoding a critical enzyme, potentially affects susceptibility to some congenital defects like congenital heart disease (CHD. We evaluate the performance of HRM for genotyping of the MTHFR gene C677T locus in CHD cases and healthy controls of Chinese Han population.A total of 315 blood samples from 147 CHD patients (male72, female 75 and 168 healthy controls (male 92, female 76 were enrolled in the study. HRM was utilized to genotype MTHFR C677T locus of all the samples. The results were compared to that of PCR-RFLP and Sanger sequencing. The association of the MTHFR C677T genotypes and the risk of CHD was analyzed using odds ratio with their 95% confidence interval (CIs from unconditional logistic regression.All the samples were successfully genotyped by HRM within 1 hour and 30 minutes while at least 6 hours were needed for PCR-RFLP and sequencing. The genotypes of MTHFR C677T CC, CT, and TT were 9.52%, 49.66%, and 40.82% in CHD group but 29.17%, 50% and 20.83% in control group, which were identical using both methods of HRM and PCR-RFLP, demonstrating the sensitivity and specificity of HRM were all 100%.MTHFR C677T is a potential risk factor for CHD in our local residents of Shandong province in China. HRM is a fast, sensitive, specific and reliable method for clinical application of genotyping.

  15. Riboflavin, MTHFR genotype and blood pressure: A personalized approach to prevention and treatment of hypertension.

    McNulty, Helene; Strain, J J; Hughes, Catherine F; Ward, Mary

    2017-02-01

    Hypertension is the leading risk factor contributing to mortality worldwide, primarily from cardiovascular disease (CVD), while effective treatment of hypertension is proven to reduce CVD events. Along with the well recognized nutrition and lifestyle determinants, genetic factors are implicated in the development and progression of hypertension. In recent years genome-wide association studies have identified a region near the gene encoding the folate-metabolizing enzyme methylenetetrahydrofolate reductase (MTHFR) among eight loci associated with blood pressure. Epidemiological studies, which provide a separate line of evidence to link this gene with blood pressure, show that the 677C→T polymorphism in MTHFR increases the risk of hypertension by 24-87% and CVD by up to 40%, albeit with a large geographical variation in the extent of excess disease risk suggestive of a gene-environment interaction. Emerging evidence indicates that the relevant environmental factor may be riboflavin, the MTHFR co-factor, via a novel and genotype-specific effect on blood pressure. Randomized trials conducted in hypertensive patients (with and without overt CVD) pre-screened for this polymorphism show that targeted riboflavin supplementation in homozygous individuals (MTHFR 677TT genotype) lowers systolic blood pressure by 6 to 13 mmHg, independently of the effect of antihypertensive drugs. The latest evidence, that the blood pressure phenotype associated with this polymorphism is modifiable by riboflavin, has important clinical and public health implications. For hypertensive patients, riboflavin supplementation can offer a non-drug treatment to effectively lower blood pressure in those identified with the MTHFR 677TT genotype. For sub-populations worldwide with this genotype, better riboflavin status may prevent or delay the development of high blood pressure. Thus riboflavin, targeted at those homozygous for a common polymorphism in MTHFR, may offer a personalized treatment or

  16. Analysis of MTHFR, CBS, Glutathione, Taurine, and Hydrogen Sulfide Levels in Retinas of Hyperhomocysteinemic Mice.

    Cui, Xuezhi; Navneet, Soumya; Wang, Jing; Roon, Penny; Chen, Wei; Xian, Ming; Smith, Sylvia B

    2017-04-01

    Hyperhomocysteinemia (Hhcy) is implicated in certain retinal neurovascular diseases, although whether it is causative remains uncertain. In isolated ganglion cells (GCs), mild Hhcy induces profound death, whereas retinal phenotypes in Hhcy mice caused by mutations in remethylation (methylene tetrahydrofolatereductase [Mthfr+/-]) or transsulfuration pathways (cystathionine β-synthase [Cbs+/-]) demonstrate mild GC loss and mild vasculopathy. The current work investigated compensation in vivo of one pathway for the other, and, because the transsulfuration pathway yields cysteine necessary for formation of glutathione (GSH), taurine, and hydrogen sulfide (H2S), they were analyzed also. Retinas isolated from wild-type (WT), Mthfr+/-, and Cbs+/- mice (12 and 22 weeks) were analyzed for methylene tetrahydrofolate reductase (MTHFR), cystathionine-β-synthase (CBS), and cystathionase (CTH) RNA/protein levels. Retinas were evaluated for levels of reduced:oxidized GSH (GSH:GSSG), Slc7a11 (xCT), taurine, taurine transporter (TAUT), and H2S. Aside from decreased CBS RNA/protein levels in Cbs+/- retinas, there were minimal alterations in remethylation/transsulfuration pathways in the two mutant mice strains. Glutathione and taurine levels in Mthfr+/- and Cbs+/- retinas were similar to WT, which may be due to robust levels of xCT and TAUT in mutant retinas. Interestingly, levels of H2S were markedly increased in retinas of Mthfr+/- and Cbs+/- mice compared with WT. Ganglion cell loss and vasculopathy observed in Mthfr+/- and Cbs+/- mouse retinas may be milder than expected, not because of compensatory increases of enzymes in remethylation/transsulfuration pathways, but because downstream transsulfuration pathway products GSH, taurine, and H2S are maintained at robust levels. Elevation of H2S is particularly intriguing owing to neuroprotective properties reported for this gasotransmitter.

  17. Diabetes gestacional - Otimização do controlo materno e morbilidade neonatal

    Mimoso, Maria Gabriela

    2018-01-01

    Introdução - A diabetes gestacional (DG) é uma das complicações médicas mais frequentes na gravidez. O diagnóstico mais precoce e o rigor do controlo metabólico é fundamental para diminuir a morbilidade perinatal.A hiperglicémia materna ao induzir hiperglicémia fetal e consequente hiperinsulinismo, é responsável pela maioria das complicações do feto e no recém-nascido (RN).Objetivo - Avaliar a evolução da morbilidade neonatal de filhos de mães com DG explorando as possíveis correlações entre ...

  18. Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age of onset in schizophrenia

    Vares, Maria; Saetre, Peter; Deng, Hong

    2010-01-01

    analysis. In an attempt to replicate the findings from the Scandinavian sample, the association between rs1801133 and age at onset was also analyzed in Chinese high-risk families, with two or more affected siblings (n = 243). Among the Scandinavian patients the functional MTHFR SNP rs1801133 (C677T...... 677T allele showed earlier age at onset than siblings being homozygous for the wild-type allele (P = 0.008). The MTHFR C677T polymorphism may play a role as a modifying factor for age of onset in schizophrenia....

  19. Prevalencia del déficit de vitamina B12 en mayores de 60 años hospitalizados. Estudio del polimorfismo C677T de la enzima 5-10 MTHFR en pacientes con déficit de vitamina B12

    Alonso Ortiz, María Belén

    2014-01-01

    Programa de doctorado: Avances en Medicina Interna. [ES] El déficit de Vitamina B12 es frecuente en los pacientes mayores. Sin embargo, son escasos los trabajos realizados en el ámbito hospitalario. Este déficit se asocia frecuentemente con elevación de la homocisteína plasmática, conocido factor de riesgo cardiovascular. Además la mutación C677T del gen de la enzima MTHFR se relaciona con hiperhomocistenemia, que puede coexistir con déficit de Vitamina B12, cuya frecuencia y consecuencias...

  20. DETEKSI GEN-GEN PENYANDI FAKTOR VIRULENSI PADA BAKTERI VIBRIO

    Ince Ayu Khairani Kadriah

    2011-04-01

    menggunakan isolat bakteri yang diisolasi dari budidaya udang windu di berbagai daerah di Sulawesi Selatan dan Jawa. Pada penelitian ini digunakan primer spesifik untuk mendeteksi gen-gen virulen toxR gene, hemolysin (vvh gene, dan GyrB gene dengan metode PCR. Dari 35 isolat yang diisolasi, 20 isolat terdeteksi memiliki gen virulensi dan 8 di antaranya memiliki dua gen virulen. Spesies bakteri yang memiliki gen virulen adalah: V.harveyi, V. parahaemolyticus, V. mimicus, dan V. campbelli

  1. Simultaneous Downregulation of MTHFR and COMT in Switchgrass Affects Plant Performance and Induces Lesion-Mimic Cell Death

    Sijia Liu

    2017-06-01

    Full Text Available Switchgrass (Panicum virgatum has been developed into a model lignocellulosic bioenergy crop. Downregulation of caffeic acid O-methyltransferase (COMT, a key enzyme in lignin biosynthesis, has been shown to alter lignification and increase biofuel yield in switchgrass. Methylenetetrahydrofolate reductase (MTHFR mediates C1 metabolism and provides methyl units consumed by COMT. It was predicted that co-silencing of MTHFR and COMT would impact lignification even more than either of the single genes. However, our results showed that strong downregulation of MTHFR in a COMT-deficient background led to altered plant growth and development, but no significant change in lignin content or composition was found when compared with COMT plants. Another unexpected finding was that the double MTHFR/COMT downregulated plants showed a novel lesion-mimic leaf phenotype. Molecular analyses revealed that the lesion-mimic phenotype was caused by the synergistic effect of MTHFR and COMT genes, with MTHFR playing a predominant role. Microarray analysis showed significant induction of genes related to oxidative and defense responses. The results demonstrated the lack of additive effects of MTHFR and COMT on lignification. Furthermore, this research revealed an unexpected role of the two genes in the modulation of lesion-mimic cell death as well as their synergistic effects on agronomic performance.

  2. Simultaneous Downregulation of MTHFR and COMT in Switchgrass Affects Plant Performance and Induces Lesion-Mimic Cell Death.

    Liu, Sijia; Fu, Chunxiang; Gou, Jiqing; Sun, Liang; Huhman, David; Zhang, Yunwei; Wang, Zeng-Yu

    2017-01-01

    Switchgrass ( Panicum virgatum ) has been developed into a model lignocellulosic bioenergy crop. Downregulation of caffeic acid O -methyltransferase (COMT), a key enzyme in lignin biosynthesis, has been shown to alter lignification and increase biofuel yield in switchgrass. Methylenetetrahydrofolate reductase (MTHFR) mediates C1 metabolism and provides methyl units consumed by COMT. It was predicted that co-silencing of MTHFR and COMT would impact lignification even more than either of the single genes. However, our results showed that strong downregulation of MTHFR in a COMT -deficient background led to altered plant growth and development, but no significant change in lignin content or composition was found when compared with COMT plants. Another unexpected finding was that the double MTHFR/COMT downregulated plants showed a novel lesion-mimic leaf phenotype. Molecular analyses revealed that the lesion-mimic phenotype was caused by the synergistic effect of MTHFR and COMT genes, with MTHFR playing a predominant role. Microarray analysis showed significant induction of genes related to oxidative and defense responses. The results demonstrated the lack of additive effects of MTHFR and COMT on lignification. Furthermore, this research revealed an unexpected role of the two genes in the modulation of lesion-mimic cell death as well as their synergistic effects on agronomic performance.

  3. MTHFR gene C677T and A1298C variants are associated with FMF risk in a Turkish cohort.

    Nursal, Ayse Feyda; Kaya, Süheyla; Sezer, Ozlem; Karakus, Nevin; Yigit, Serbulent

    2018-02-01

    Methylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme in homocysteine (Hcy) metabolism. We aimed to evaluate a possible relationship between MTHFR gene C677T (rs 1801133), A1298C (rs 1801131) variants and susceptibility to FMF in a Turkish cohort. This case-control study included 198 Turkish FMF patients and 100 healthy subjects as controls. MTHFR C677T and A1298C were analyzed by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) methods. The genotype distribution and allele frequency of the MTHFR C677T were statistically different between the patients and the control group (P=.006, P=.001, respectively). The frequency of the TT genotype and T allele of MTHFR C677T was significantly higher in the patients than in the controls. The genotype distribution of MTHFR A1298C variant did not show any statistically significant difference between the patients and the controls (P›.05). The patients had statistically different frequencies in allele C of MTHFR A1298C variant compared with the control (P=.032). We also examined the risk associated with inheriting the combined genotypes for the two MTHFR variants. According to these results, individuals who were CC homozygous at C677T locus and AA homozygous at A1298C locus have a lower risk of developing FMF (P=.002). Individuals who were TT homozygous at C677T locus and AC heterozygous at A1298C locus have higher risk of developing FMF (P=.033). Our findings clearly showed there was an association the MTHFR C677T/A1298C variants and susceptibility to FMF in the Turkish sample. © 2017 Wiley Periodicals, Inc.

  4. Meta-Prediction of MTHFR Gene Polymorphisms and Air Pollution on the Risk of Hypertensive Disorders in Pregnancy Worldwide

    Ya-Ling Yang

    2018-02-01

    Full Text Available Hypertensive disorders in pregnancy (HDP are devastating health hazards for both women and children. Both methylenetetrahydrofolate reductase (MTHFR gene polymorphisms and air pollution can affect health status and result in increased risk of HDP for women. The major objective of this study was to investigate the effect of MTHFR polymorphisms, air pollution, and their interaction on the risk of HDP by using meta-predictive analytics. We searched various databases comprehensively to access all available studies conducted for various ethnic populations from countries worldwide, from 1997 to 2017. Seventy-one studies with 8064 cases and 13,232 controls for MTHFR C677T and 11 studies with 1425 cases and 1859 controls for MTHFR A1298C were included. MTHFR C677T homozygous TT (risk ratio (RR = 1.28, p < 0.0001 and CT plus TT (RR = 1.07, p = 0.0002 were the risk genotypes, while wild-type CC played a protective role (RR = 0.94, p = 0.0017 for HDP. The meta-predictive analysis found that the percentage of MTHFR C677T TT plus CT (p = 0.044 and CT (p = 0.043 genotypes in the HDP case group were significantly increased with elevated levels of air pollution worldwide. Additionally, in countries with higher air pollution levels, the pregnant women with wild-type CC MTHFR 677 had a protection effect against HDP (p = 0.014, whereas, the homozygous TT of MTHFR C677T polymorphism was a risk genotype for developing HDP. Air pollution level is an environmental factor interacting with increased MTHFR C677T polymorphisms, impacting the susceptibility of HDP for women.

  5. Serum Homocysteine, Vitamin B12, Folic Acid Levels and Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphism in Vitiligo

    Yasar, Ali; Gunduz, Kamer; Onur, Ece; Calkan, Mehmet

    2012-01-01

    The aim of this study was to determine serum vitamin B12, folic acid and homocysteine (Hcy) levels as well as MTHFR (C677, A1298C) gene polymorphisms in patients with vitiligo, and to compare the results with healthy controls. Forty patients with vitiligo and 40 age and sex matched healthy subjects were studied. Serum vitamin B12 and folate levels were determined by enzyme-linked immunosorbent assay. Plasma Hcy levels and MTHFR polymorphisms were determined by chemiluminescence and real time PCR methods, respectively. Mean serum vitamin B12 and Hcy levels were not significantly different while folic acid levels were significantly lower in the control group. There was no significant relationship between disease activity and vitamin B12, folic acid and homocystein levels. No significant difference in C677T gene polymorphism was detected. Heterozygote A1298C gene polymorphism in the patient group was statistically higher than the control group. There was no significant relationship between MTHFR gene polymorphisms and vitamin B12, folic acid and homocysteine levels. In conclusion, vitamin B12, folate and Hcy levels are not altered in vitiligo and MTHFR gene mutations (C677T and A1298C) do not seem to create susceptibility for vitiligo. PMID:22846211

  6. Serum Homocysteine, Vitamin B12, Folic Acid Levels and Methylenetetrahydrofolate Reductase (MTHFR Gene Polymorphism in Vitiligo

    Ali Yasar

    2012-01-01

    Full Text Available The aim of this study was to determine serum vitamin B12, folic acid and homocysteine (Hcy levels as well as MTHFR (C677, A1298C gene polymorphisms in patients with vitiligo, and to compare the results with healthy controls. Forty patients with vitiligo and 40 age and sex matched healthy subjects were studied. Serum vitamin B12 and folate levels were determined by enzyme-linked immunosorbent assay. Plasma Hcy levels and MTHFR polymorphisms were determined by chemiluminescence and real time PCR methods, respectively. Mean serum vitamin B12 and Hcy levels were not significantly different while folic acid levels were significantly lower in the control group. There was no significant relationship between disease activity and vitamin B12, folic acid and homocystein levels. No significant difference in C677T gene polymorphism was detected. Heterozygote A1298C gene polymorphism in the patient group was statistically higher than the control group. There was no significant relationship between MTHFR gene polymorphisms and vitamin B12, folic acid and homocysteine levels. In conclusion, vitamin B12, folate and Hcy levels are not altered in vitiligo and MTHFR gene mutations (C677T and A1298C do not seem to create susceptibility for vitiligo.

  7. Analysis of the MTHFR C677T variant with migraine phenotypes

    Haupt Larisa M

    2010-07-01

    Full Text Available Abstract Background The methylenetetrahydrofolate reductase (MTHFR gene variant C677T has been implicated as a genetic risk factor in migraine susceptibility, particularly in Migraine with Aura. Migraine, with and without aura (MA and MO have many diagnostic characteristics in common. It is postulated that migraine symptomatic characteristics might themselves be influenced by MTHFR. Here we analysed the clinical profile, migraine symptoms, triggers and treatments of 267 migraineurs previously genotyped for the MTHFR C677T variant. The chi-square test was used to analyse all potential relationships between genotype and migraine clinical variables. Regression analyses were performed to assess the association of C677T with all migraine clinical variables after adjusting for gender. Findings The homozygous TT genotype was significantly associated with MA (P P = 0.002. While the CT genotype was significantly associated with physical activity discomfort (P P = 0.002. Females with the TT genotype were significantly associated with unilateral head pain (P P P = 0.002, and the use of natural remedy for migraine treatment (P = 0.003. Conversely, male migraineurs with the TT genotype experienced higher incidences of bilateral head pain (63% vs 34% and were less likely to use a natural remedy as a migraine treatment compared to female migraineurs (5% vs 20%. Conclusions MTHFR genotype is associated with specific clinical variables of migraine including unilateral head pain, physical activity discomfort and stress.

  8. MTHFR polymorphisms and 5-FU-based adjuvant chemotherapy in colorectal cancer

    Afzal, Shoaib; Jensen, S; Vainer, B

    2009-01-01

    Methylenetetrahydrofolate reductase is a pivotal enzyme in folate metabolism and 5-fluorouracil (5-FU) cytotoxicity. Two common single-nucleotide polymorphisms (SNPs), MTHFR 677C>T (rs1801133) and 1298A>C (rs1801131), reduce enzyme activity. Initially, these SNPs were claimed to predict clinical...

  9. Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk

    Holmes, Michael V; Newcombe, Paul; Hubacek, Jaroslav A

    2011-01-01

    The MTHFR 677C→T polymorphism has been associated with raised homocysteine concentration and increased risk of stroke. A previous overview showed that the effects were greatest in regions with low dietary folate consumption, but differentiation between the effect of folate and small-study bias wa...

  10. Recém-nascido pequeno para a idade gestacional: repercussão nas habilidades motoras finas Pequeño para la edad gestacional: repercusión en las habilidades motoras finas Small-for-gestational-age newborn infant: repercussion on fine motor skills

    Amabile Vessoni Arias

    2011-03-01

    Full Text Available OBJETIVO: Comparar as habilidades motoras finas de lactentes nascidos a termo pequenos para a idade gestacional (PIG com as habilidades dos nascidos adequados para a idade gestacional (AIG no terceiro mês de vida. MÉTODOS: Realizou-se um estudo observacional de corte transversal. Avaliaram-se 67 lactentes (21 PIG e 46 AIG no terceiro mês de vida. Portadores de síndromes genéticas, malformações congênitas, infecções congênitas e aqueles que necessitaram de unidade de terapia intensiva neonatal foram excluídos. As Escalas Bayley II de Desenvolvimento Infantil foram utilizadas, com ênfase nos itens que avaliam as habilidades motoras finas. RESULTADOS: Não se observaram diferenças entre os grupos na escala motora (p=0,21 e mental (p=0,45 no terceiro mês de vida. No item "Alcança o Aro Suspenso", houve diferença significativa (teste Exato de Fisher; p=0,02, demonstrando maior frequência de execução para o grupo PIG no terceiro mês de vida. CONCLUSÕES: Supõe-se que a diferença encontrada no item "Alcança o Aro Suspenso" possa ser atribuída à grande ocorrência de movimentos dos braços observada no grupo PIG e não a uma condição melhor de desenvolvimento desse grupo.OBJETIVO: Comparar las habilidades motoras finas de lactantes nacidos a término pequeños para la edad gestacional (PEG con adecuados para la edad gestacional (AEG en el 3er mes de vida. MÉTODOS: Se realizó un estudio observacional de corte transversal. Se evaluaron a 67 lactantes (21 PEG y 46 AEG en el 3er mes de vida. Síndromes genéticos, malformaciones congénitas, infecciones congénitas y aquellos que necesitaron de unidad de terapia intensiva neonatal fueron excluidos. Las Escalas Bayley II y de Desarrollo Infantil fueron utilizadas, con énfasis en los ítems que evalúan las habilidades motoras finas. RESULTADOS: No se observaron diferencias entre los grupos en la escala motora (p=0,21 y mental (p=0,45 en el 3er mes de vida. En el ítem "alcanza

  11. GenBank.

    Benson, D; Lipman, D J; Ostell, J

    1993-01-01

    The GenBank sequence database has undergone an expansion in data coverage, annotation content and the development of new services for the scientific community. In addition to nucleotide sequences, data from the major protein sequence and structural databases, and from U.S. and European patents is now included in an integrated system. MEDLINE abstracts from published articles describing the sequences provide an important new source of biological annotation for sequence entries. In addition to ...

  12. Preditores de sucesso da metformina no tratamento do diabetes mellitus gestacional

    Jean Carl Silva

    2013-06-01

    Full Text Available OBJETIVOS: identificar características maternas relacionadas à falha no tratamento do diabetes mellitus gestacional (DMG com metformina. MÉTODOS: estudo retrospectivo observacional (julho/2008-setembro/ 2010, com 104 gestantes com DMG que necessitaram de terapêutica complementar a dietoterapia e utilizaram metformina. Dividiram-se em dois grupos: sucesso terapêutico (n=82, onde a droga foi mantida até o parto; outro com falha terapêutica (n=22 onde a droga foi substituída por insulina. Variáveis maternas estudadas: idade, número de partos, ganho de peso na gestação, glicemia de jejum (GJ e 2h no OGTT75g, idade gestacional de diagnóstico de DMG (IGDMG. Variáveis do recém nascido: incidência de RNs GIG e hipoglicemia neonatal. Foram comparadas as características clínico-metabólicas maternas e os resultados perinatais, o nível de significância utilizado foi de 5%. RESULTADOS: apresentaram diferença na IGDMG (27,5 vs 24,3 semanas; p=0,02, no índice de massa corporal (IMC (27,5 vs 31,6 kg/m²; p=0,01, e GJ no OGTT75g (91,5 vs 108 mg/dL; p=0,02, nos grupos de sucesso e falha respectivamente. A falha terapêutica aumentou o índice ponderal dos RNs (2,8 vs 3 g/cm³; p=0,05, incidência de RNs GIG (4,9 vs 22,7%; p=0,02 e hipoglicemia neonatal (6,1 vs 18,2%; p=0,04. Os dados dos RNs foram objetivos secundários. CONCLUSÕES: o diagnóstico precoce, o maior IMC e maior GJ OGTT75g estiveram mais relacionados a falha terapêutica.

  13. High folic acid consumption leads to pseudo-MTHFR deficiency, altered lipid metabolism, and liver injury in mice12345

    Christensen, Karen E; Mikael, Leonie G; Leung, Kit-Yi; Lévesque, Nancy; Deng, Liyuan; Wu, Qing; Malysheva, Olga V; Best, Ana; Caudill, Marie A; Greene, Nicholas DE

    2015-01-01

    Background: Increased consumption of folic acid is prevalent, leading to concerns about negative consequences. The effects of folic acid on the liver, the primary organ for folate metabolism, are largely unknown. Methylenetetrahydrofolate reductase (MTHFR) provides methyl donors for S-adenosylmethionine (SAM) synthesis and methylation reactions. Objective: Our goal was to investigate the impact of high folic acid intake on liver disease and methyl metabolism. Design: Folic acid–supplemented diet (FASD, 10-fold higher than recommended) and control diet were fed to male Mthfr+/+ and Mthfr+/− mice for 6 mo to assess gene-nutrient interactions. Liver pathology, folate and choline metabolites, and gene expression in folate and lipid pathways were examined. Results: Liver and spleen weights were higher and hematologic profiles were altered in FASD-fed mice. Liver histology revealed unusually large, degenerating cells in FASD Mthfr+/− mice, consistent with nonalcoholic fatty liver disease. High folic acid inhibited MTHFR activity in vitro, and MTHFR protein was reduced in FASD-fed mice. 5-Methyltetrahydrofolate, SAM, and SAM/S-adenosylhomocysteine ratios were lower in FASD and Mthfr+/− livers. Choline metabolites, including phosphatidylcholine, were reduced due to genotype and/or diet in an attempt to restore methylation capacity through choline/betaine-dependent SAM synthesis. Expression changes in genes of one-carbon and lipid metabolism were particularly significant in FASD Mthfr+/− mice. The latter changes, which included higher nuclear sterol regulatory element-binding protein 1, higher Srepb2 messenger RNA (mRNA), lower farnesoid X receptor (Nr1h4) mRNA, and lower Cyp7a1 mRNA, would lead to greater lipogenesis and reduced cholesterol catabolism into bile. Conclusions: We suggest that high folic acid consumption reduces MTHFR protein and activity levels, creating a pseudo-MTHFR deficiency. This deficiency results in hepatocyte degeneration, suggesting a 2

  14. High folic acid consumption leads to pseudo-MTHFR deficiency, altered lipid metabolism, and liver injury in mice.

    Christensen, Karen E; Mikael, Leonie G; Leung, Kit-Yi; Lévesque, Nancy; Deng, Liyuan; Wu, Qing; Malysheva, Olga V; Best, Ana; Caudill, Marie A; Greene, Nicholas D E; Rozen, Rima

    2015-03-01

    Increased consumption of folic acid is prevalent, leading to concerns about negative consequences. The effects of folic acid on the liver, the primary organ for folate metabolism, are largely unknown. Methylenetetrahydrofolate reductase (MTHFR) provides methyl donors for S-adenosylmethionine (SAM) synthesis and methylation reactions. Our goal was to investigate the impact of high folic acid intake on liver disease and methyl metabolism. Folic acid-supplemented diet (FASD, 10-fold higher than recommended) and control diet were fed to male Mthfr(+/+) and Mthfr(+/-) mice for 6 mo to assess gene-nutrient interactions. Liver pathology, folate and choline metabolites, and gene expression in folate and lipid pathways were examined. Liver and spleen weights were higher and hematologic profiles were altered in FASD-fed mice. Liver histology revealed unusually large, degenerating cells in FASD Mthfr(+/-) mice, consistent with nonalcoholic fatty liver disease. High folic acid inhibited MTHFR activity in vitro, and MTHFR protein was reduced in FASD-fed mice. 5-Methyltetrahydrofolate, SAM, and SAM/S-adenosylhomocysteine ratios were lower in FASD and Mthfr(+/-) livers. Choline metabolites, including phosphatidylcholine, were reduced due to genotype and/or diet in an attempt to restore methylation capacity through choline/betaine-dependent SAM synthesis. Expression changes in genes of one-carbon and lipid metabolism were particularly significant in FASD Mthfr(+/-) mice. The latter changes, which included higher nuclear sterol regulatory element-binding protein 1, higher Srepb2 messenger RNA (mRNA), lower farnesoid X receptor (Nr1h4) mRNA, and lower Cyp7a1 mRNA, would lead to greater lipogenesis and reduced cholesterol catabolism into bile. We suggest that high folic acid consumption reduces MTHFR protein and activity levels, creating a pseudo-MTHFR deficiency. This deficiency results in hepatocyte degeneration, suggesting a 2-hit mechanism whereby mutant hepatocytes cannot

  15. Comportamiento de la diabetes gestacional en el embarazo en la adolescencia Behaviour of gestational diabetes during pregnancy in adolescence

    Gertrudis Rimbao Torres

    2007-09-01

    Full Text Available Se realizó un estudio observacional analítico de tipo caso-control de las 113 adolescentes que parieron en el período comprendido desde el 1ro. de enero de 2006 hasta el 1ro. de junio del propio año, en el Hospital Ginecoobstétrico Universitario “América Arias”, con el objetivo de determinar la frecuencia de la diabetes gestacional y su relación con algunas variables maternas y neonatales en el embarazo en la adolescencia. Se analizaron las variables siguientes: presencia de diabetes gestacional, índice de masa corporal, presencia de hipertensión arterial inducida por el embarazo, tipo de parto, y peso y apgar del recién nacido. Se demostró que la frecuencia de la diabetes gestacional en las adolescentes fue baja (2,7 %. El principal factor de riesgo para el desarrollo de la diabetes gestacional a estas edades fue el exceso de peso al inicio del embarazo (15,7 %. La hipertensión inducida por el embarazo no se asoció con la diabetes gestacional. El mayor número de pacientes tuvo un parto transpelviano (74,3 %. La macrosomía fetal no fue un hallazgo frecuente en ninguno de los 2 grupos, mientras que el bajo peso al nacer lo fue algo más. El apgar bajo al nacer al minuto y a los 5 minutos fue, en general, un hallazgo muy infrecuente.An analytical observation study was conducted of case-control type of 113 adolescent gave birth from January 1 2006 to June 1 2006 in “America Arias” Gynecoly-Obstetrics Hospital to determine frequency of gestational diabetes and its relationship with some maternal and neonatal variables during pregnancy in adolescence. Following variables were analyzed: gestational diabetes, body mass index, presence of pregnancy-induced high blood pressure, type of labor, and weight and Apgar score of newborn. It was possible to demonstrate a low frequency of gestational diabetes in adolescents (2.7 %. Main risk factor for development of gestational diabetes at these ages was an overweight at onset of pregnancy

  16. Importancia de la detección de factores de riesgo para diabetes mellitus gestacional

    Carmen Neri Fernández Pombo

    Full Text Available Objetivo principal: Determinar el riesgo de padecer Diabetes Mellitus Gestacional (DMG en base a la relación de los factores de riesgo para DMG con el diagnóstico. Metodología: Estudio descriptivo realizado en una muestra de 444 gestantes durante febrero y mayo de 2013. Los datos recogidos fueron tratados con el programa SPSS. Valor significativo de p<0,05. Resultados principales: Se describió una prevalencia de DMG del 11,3%, presentando el 28,0% dos o más factores de riesgo, el 42,0% un factor de riesgo y el 30,0% ningún factor de riesgo (p< 0,001. El riesgo de padecer DMG en las gestantes con dos o más factores de riesgo fue del 3,7 (IC95% 1,7-8,4 y del 2,3 (IC95% 1,1-4,7 para aquellas con un factor de riesgo. Conclusión principal: Detectar los factores de riesgo para DMG ayudaría a reducir las complicaciones asociadas a esta patología.

  17. Crise tireotóxica associada à doença trofoblástica gestacional

    Carlos Eduardo David de Almeida

    2011-10-01

    Full Text Available JUSTIFICATIVA E OBJETIVOS: A gonadotrofina coriônica humana (HCG e o hormônio tireotrófico (TSH apresentam analogia entre suas estruturas, assim como seus receptores. Os altos níveis de HCG encontrados nas doenças trofoblásticas gestacionais podem induzir um quadro de hipertireoidismo secundário. O objetivo deste relato é apresentar um caso em que a administração de contraste iodado precipitou um quadro de crise tireotóxica. RELATO DO CASO: Paciente com mola hidatiforme completa foi admitida no centro cirúrgico com sangramento vaginal intenso após realização de tomografia com contraste iodado. Durante indução anestésica, paciente apresentou quadro compatível com crise tireotóxica. CONCLUSÕES: A incidência de quadros graves associados à doença trofoblástica gestacional tende a diminuir com seu diagnóstico precoce. Ainda que isso aconteça, o anestesiologista deve estar atento à possibilidade de crise tireotóxica nesses pacientes.

  18. Curva dos valores normais de peso fetal estimado por ultra-sonografia segundo a idade gestacional

    José Guilherme Cecatti

    Full Text Available Este trabalho teve por objetivo avaliar a evolução do peso fetal estimado em gestações normais de 20 a 42 semanas. Quanto ao desenho e métodos empregados na pesquisa, realizou-se estudo descritivo de um universo constituído por 2.874 gestantes normais da cidade de Campinas, efetuando-se exame ultra-sonográfico obstétrico de rotina com medida da biometria fetal e utilizando-se, para o cálculo do peso fetal, a fórmula de Hadlock et al. (1991. Calcularam-se os valores dos percentis 10, 50 e 90 do peso fetal, por idade gestacional, com construção de curva posteriormente alisada mediante ajuste polinomial de 2º grau. Como resultado, obteve-se que o valor do percentil 50 foi de 368 gramas na 20ª semana, 1.512 gramas na 30ª semana, atingindo 3.417 gramas na 42ª semana. Constatou-se ter havido ganho médio de 200 gramas de peso por semana, de 27 a 38 semanas, a partir de quando o incremento diminuiu. Concluiu-se que a disponibilidade de curva brasileira do peso fetal estimado normal permitirá o diagnóstico pré-natal de seus desvios pela ultra-sonografia.

  19. SHMT1 1420 and MTHFR 677 variants are associated with rectal but not colon cancer

    Komlósi, Viktor; Müller, Judit; Tóth, Béla; Ottó, Szabolcs; Kásler, Miklós; Kralovánszky, Judit; Budai, Barna; Hitre, Erika; Pap, Éva; Adleff, Vilmos; Réti, Andrea; Székely, Éva; Bíró, Anna; Rudnai, Péter; Schoket, Bernadette

    2010-01-01

    Association between rectal or colon cancer risk and serine hydroxymethyltransferase 1 (SHMT1) C1420T or methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms was assessed. The serum total homocysteine (HCY), marker of folate metabolism was also investigated. The SHMT1 and MTHFR genotypes were determined by real-time PCR and PCR-RFLP, respectively in 476 patients with rectal, 479 patients with colon cancer and in 461 and 478, respective controls matched for age and sex. Homocysteine levels were determined by HPLC kit. The association between polymorphisms and cancer risk was evaluated by logistic regression analysis adjusted for age, sex and body mass index. The population stratification bias was also estimated. There was no association of genotypes or diplotypes with colon cancer. The rectal cancer risk was significantly lower for SHMT1 TT (OR = 0.57, 95% confidence interval (CI) 0.36-0.89) and higher for MTHFR CT genotypes (OR = 1.4, 95%CI 1.06-1.84). A gene-dosage effect was observed for SHMT1 with progressively decreasing risk with increasing number of T allele (p = 0.014). The stratified analysis according to age and sex revealed that the association is mainly present in the younger (< 60 years) or male subgroup. As expected from genotype analysis, the SHMT1 T allele/MTHFR CC diplotype was associated with reduced rectal cancer risk (OR 0.56, 95%CI 0.42-0.77 vs all other diplotypes together). The above results are unlikely to suffer from population stratification bias. In controls HCY was influenced by SHMT1 polymorphism, while in patients it was affected only by Dukes' stage. In patients with Dukes' stage C or D HCY can be considered as a tumor marker only in case of SHMT1 1420CC genotypes. A protective effect of SHMT1 1420T allele or SHMT1 1420 T allele/MTHFR 677 CC diplotype against rectal but not colon cancer risk was demonstrated. The presence of SHMT1 1420 T allele significantly increases the HCY levels in controls but not in patients

  20. Pequenos para idade gestacional: fator de risco para mortalidade neonatal Small for gestational age

    Márcia Furquim de Almeida

    1998-06-01

    Full Text Available OBJETIVO: Estudar as variáveis contempladas na Declaração de Nascimento (DN como possíveis fatores de risco para nascimentos pequenos para a idade gestacional (PIG e o retardo de crescimento intra-uterino como fator de risco para a mortalidade neonatal. MATERIAL E MÉTODO: As variáveis existentes na DN foram obtidas diretamente de prontuários hospitalares. Os dados referem-se a uma coorte de nascimentos obtida por meio da vinculação das declarações de nascimento e óbito, correspondendo a 2.251 nascimentos vivos hospitalares, de mães residentes, ocorridos no Município de Santo André, Região Metropolitana de São Paulo, no período de l/1 a 30/6/1992, e aos óbitos neonatais verificados nessa coorte. RESULTADOS: Obteve-se a proporção de 4,3% de nascimentos PIG, significativamente maior entre os recém-nascidos de pré-termo e pós-termo, entre os nascimentos cujas mães tinham mais de 35 anos de idade e grau de instrução inferior ao primeiro grau completo. Os recém-nascidos PIG apresentam maior risco de morte neonatal que aqueles que não apresentavam sinais de retardo de crescimento intra-uterino. CONCLUSÕES: Em áreas com menor freqüência de baixo peso ao nascer, é importante investigar a presença de retardo de crescimento intra-uterino entre os nascimentos prematuros e não apenas nos nascimentos de termo. O registro da data da última menstruação (ou da idade gestacional em semanas não agregadas na DN facilitaria a detecção de PIGs na população de recém-nascidos.INTRODUCTION: Variables of birth certificates were analysed as risk factors of SGA (Small for Gestational Age infantis, and with a view to discovering if retarded intra-uterine growth was a risk factor neonatal mortality. MATERIAL AND METHOD: Data were obtained directly from 11 hospital medical records. A cohort of 2.251 hospital live births was obtained. Linkage of the death and birth certificates was undertaken to identify the neonatal deaths. The

  1. Association analysis of COMT/MTHFR polymorphisms and major depressive disorder in Chinese Han population.

    Shen, Xinhua; Wu, Yanfeng; Guan, Tiefeng; Wang, Xiaoquan; Qian, Mincai; Lin, Min; Shen, Zhongxia; Sun, Jushui; Zhong, Hua; Yang, Jianhong; Li, Liang; Yuan, Yonggui

    2014-06-01

    In several previous biochemical and genetic studies, the Val158Met polymorphism of the gene encoding catechol-O-methyltransferase (COMT) and the C677T polymorphism of Methylenetetrahydrofolate reductase (MTHFR) have been suggested to be involved in the pathogenesis as well as the treatment response of major depressive disorder (MDD), but the results have been inconsistent. In this study, we investigate the association of COMT/MTHFR and their interactions with MDD and antidepressant response in Chinese Han population. Three hundred and sixty eight depressed patients who met DSM-IV criteria for MDD were recruited for the study. Two hundred and nineteen normal controls were recruited from the local community. Patients and normal controls were genotyped for the functional COMT val158met and MTHFR C677T polymorphisms. Patients were characterized for clinical response to antidepressant treatment as measured by intra-individual changes of Hamilton Depression (HAMD-17) scores over 6 weeks. The T allele (OR=1.81; CI95%=1.40-2.34, Pdepressed individuals than among controls (OR=1.52, CI95%=1.04-2.21, P=0.02). There is disequilibrium in age and sex between case and control groups. Though we control the two variables in the statistic analysis, to be more accurate, we need to increase sample size in further study. Individuals with the genotype COMT Met/Val and MTHFR C/T have more probability of suffering from MDD. However, there is no association between gene polymorphism and treatment response. Copyright © 2014 Elsevier B.V. All rights reserved.

  2. Riboflavin status, MTHFR genotype and blood pressure: current evidence and implications for personalised nutrition.

    McAuley, E; McNulty, H; Hughes, C; Strain, J J; Ward, M

    2016-08-01

    Clinical deficiency of the B-vitamin riboflavin (vitamin B2) is largely confined to developing countries; however accumulating evidence indicates that suboptimal riboflavin status is a widespread problem across the developed world. Few international data are available on riboflavin status as measured by the functional biomarker, erythrocyte glutathione reductase activation coefficient, considered to be the gold standard index. One important role of riboflavin in the form of flavin dinucleotide is as a co-factor for the folate-metabolising enzyme methylenetetrahydrofolate reductase (MTHFR). Homozygosity for the common C677T polymorphism in MTHFR, affecting over 10 % of the UK and Irish populations and up to 32 % of other populations worldwide, has been associated with an increased risk of CVD, and more recently with hypertension. This review will explore available studies reporting riboflavin status worldwide, the interaction of riboflavin with the MTHFR C677T polymorphism and the potential role of riboflavin in personalised nutrition. Evidence is accumulating for a novel role of riboflavin as an important modulator of blood pressure (BP) specifically in individuals with the MTHFR 677TT genotype, with results from a number of recent randomised controlled trials demonstrating that riboflavin supplementation can significantly reduce systolic BP by 5-13 mmHg in these genetically at risk adults. Studies are however required to investigate the BP-lowering effect of riboflavin in different populations and in response to doses higher than 1·6 mg/d. Furthermore, work focusing on the translation of this research to health professionals and patients is also required.

  3. Impacto do diabetes mellitus gestacional sobre a massa placentária humana

    Cleiton Jonei Reginatto

    2016-05-01

    Full Text Available Introdução: O diabetes mellitus gestacional (DMG é uma alteração patológica do metabolismo energético materno desencadeado pela incapacidade da gestante produzir quantidades suficientes de insulina para compensar a intolerância à glicose desencadeada pela ação do hormônio lactogênio placentário (HPL. Tendo em vista que os níveis plasmáticos do HPL são proporcionais à massa da placenta e que eles são máximos próximo ao período em que a placenta adquire seu maior tamanho e período que a hiperglicemia se manifesta na gestante com DMG, é possível inferir que talvez exista correlação entre a massa placentária e essa doença. Objetivo: Avaliar se existe correlação entre o DMG e a massa placentária. Métodos: Pesquisa descritiva, transversal e com abordagem quantitativa, que foi realizada em um hospital público de Santa Catarina, Brasil. A pesquisa incluiu 20 mulheres grávidas, 10 com e 10 sem DMG, que concordaram em participar do estudo. Resultados: A média das massas das placentas do Grupo Controle foi de 505,63±12,18 g, enquanto a do grupo com DMG foi de 561,00 ±14,25 g. Conclusão: Este estudo sugere que a massa placentária das gestantes com DMG é significativamente maior do que a massa das placentas das gestantes hígidas.

  4. Diabetes gestacional na perspectiva de mulheres grávidas hospitalizadas Diabetes gestacional desde la perspectiva de mujeres embarazadas hospitalizadas Gestational diabetes from the perspective of hospitalized pregnant women

    Márcio Flávio Moura Araújo; Sarah Maria Fraxe Pessoa; Marta Maria Coelho Damasceno; Maria Lúcia Zanetti

    2013-01-01

    Estudo qualitativo fenomenológico, que teve como objetivo compreender o significado das experiências vivenciadas por mulheres com diabetes mellitus gestacional. Participaram 12 pacientes internadas em uma maternidade de Fortaleza-CE, Brasil, que manifestaram seus sentimentos e percepções por meio de entrevista aberta e desenhos. O material empírico foi transcrito na íntegra e, posteriormente, organizado e analisado pelo método fenomenológico. Os resultados evidenciaram dois temas: (1) Vivenci...

  5. Association between MTHFR polymorphisms and acute myeloid leukemia risk: a meta-analysis.

    Yu-Tao Qin

    Full Text Available Previous observational studies investigating the association between methylenetetrahydrofolate reductase (MTHFR polymorphisms and acute myeloid leukemia risk (AML have yielded inconsistent results. The aim of this study is to derive a more precise estimation of the association between MTHFR (C677T and A1298C polymorphisms and acute myeloid leukemia risk. PubMed and Embase databases were systematically searched to identify relevant studies from their inception to August 2013. Odds ratios (ORs with 95% confidence intervals (CIs were the metric of choice. Thirteen studies were selected for C677T polymorphism (1838 cases and 5318 controls and 9 studies (1335 patients and 4295 controls for A1298C polymorphism. Overall, pooled results showed that C677T polymorphism was not significant associated with AML risk(OR, 0.98-1.04; 95% CI, 0.86-0.92 to 1.09-1.25. Similar results were observed for the A1298C polymorphism and in subgroup analysis. All comparisons revealed no substantial heterogeneity nor did we detect evidence of publication bias. In summary, this meta-analysis provides evidence that MTHFR polymorphisms were not associated with AML risk. Further investigations are needed to offer better insight into the role of these polymorphisms in AML carcinogenesis.

  6. Maternal MTHFR polymorphism (677 C-T) and risk of Down's syndrome child: meta-analysis.

    Kaur, Amandeep; Kaur, Anupam

    2016-09-01

    Methylenetetrahydrofolate reductase (MTHFR) is the most important gene that participates in folate metabolism. Presence of valine instead of alanine at position 677 and elevated levels of homocystein causes DNA hypomethylation which in turn favours nondisjunction. In this study, we conducted a meta-analysis to establish link between maternal single-nucleotide polymorphism (SNP) and birth of Down's syndrome (DS) child. A total of 37 case-control studies were selected for analysis including our own, in which we investigated 110 cases and 111 control mothers. Overall, the result of meta-analysis showed significant risk of DS affected by the presence of maternal SNP (MTHFR 677 C-T OR = 0.816, 95% CI = 0.741-0.900, P <0.0001). Heterogeneity of high magnitude was observed among the studies. The chi-square value suggested a highly significant association between homozygous mutant TT genotype and birth of DS child (χ² = 23.63, P = 0.000). Genetic models suggested that 'T' allele possesses high risk for DS whether present in dominant (OR = 1.23, 95% CI = 1.13-1.34); codominant (OR = 1.17, 95% CI = 1.10-1.25) or recessive (OR = 1.21, 95% CI = 1.05-1.38) form. The analysis from all 37 studies combined together suggested that MTHFR 677 C-T is a major risk factor for DS birth.

  7. MTHFR C667T polymorphism association with male infertility risk in pakistan

    Naz, M.; Siddiqui, R.T.

    2012-01-01

    The methylenetetrahydrofolate reductase (MTHFR) gene is one of the main regulatory enzymes involved in folate metabolism, DNA synthesis and remethylation reactions. The objective of this study was to analyze the distribution of the MTHFR C677T variants using PCR-Restriction Fragment Length Polymorphism (RFLP) in a cross sectional study consisting of 160 infertile men including azoospermia, oligospermia, severe-oligospermia and normospermia infertile subjects compared to 90 ancestry-matched fertile normozoospermic controls. The genotype CT of C677T was highly significant frequency in controls and all infertility groups (28.75%; OR 1.983; 95% CI 1.117-3.522; P 0.012; chi-square 6.262) while TT homozygous variant is present statistically significant frequency in controls and azoospermic subjects and severe-oligozoospermic subjects with (P 0.065; chi-square 3.406 in azoosprimic) and ( P 0.071; chi-square 3.267 in severe-oligospermic). The prevalence of C677T genotypes TT between azoospermic and severeoligozoospermic patients and controls was almost similar 6.67% and 7.4% respectively but high as compared to controls (1.11%). In conclusion, this analysis supports that the MTHFR C677T polymorphism acts as a genetic mutation risk factor and is capable of causing male infertility susceptibility in Pakistani population. (author)

  8. A retrospective comparative exploratory study on two Methylentetrahydrofolate Reductase (MTHFR) polymorphisms in esophagogastric cancer: the A1298C MTHFR polymorphism is an independent prognostic factor only in neoadjuvantly treated gastric cancer patients

    Blank, Susanne; Kumar, Rajiv; Ott, Katja; Rachakonda, Sivaramakrishna; Keller, Gisela; Weichert, Wilko; Lordick, Florian; Langer, Rupert; Springfeld, Christoph; Bruckner, Thomas; Becker, Karen

    2014-01-01

    Methylentetrahydrofolate reductase (MTHFR) plays a major role in folate metabolism and consequently could be an important factor for the efficacy of a treatment with 5-fluorouracil. Our aim was to evaluate the prognostic and predictive value of two well characterized constitutional MTHFR gene polymorphisms for primarily resected and neoadjuvantly treated esophagogastric adenocarcinomas. 569 patients from two centers were analyzed (gastric cancer: 218, carcinoma of the esophagogastric junction (AEG II, III): 208 and esophagus (AEG I): 143). 369 patients received neoadjuvant chemotherapy followed by surgery, 200 patients were resected without preoperative treatment. The MTHFR C677T and A1298C polymorphisms were determined in DNA from peripheral blood lymphozytes. Associations with prognosis, response and clinicopathological factors were analyzed retrospectively within a prospective database (chi-square, log-rank, cox regression). Only the MTHFR A1298C polymorphisms had prognostic relevance in neoadjuvantly treated patients but it was not a predictor for response to neoadjuvant chemotherapy. The AC genotype of the MTHFR A1298C polymorphisms was significantly associated with worse outcome (p = 0.02, HR 1.47 (1.06-2.04). If neoadjuvantly treated patients were analyzed based on their tumor localization, the AC genotype of the MTHFR A1298C polymorphisms was a significant negative prognostic factor in patients with gastric cancer according to UICC 6 th edition (gastric cancer including AEG type II, III: HR 2.0, 95% CI 1.3-2.0, p = 0.001) and 7 th edition (gastric cancer without AEG II, III: HR 2.8, 95% CI 1.5-5.7, p = 0.003), not for AEG I. For both definitions of gastric cancer the AC genotype was confirmed as an independent negative prognostic factor in cox regression analysis. In primarily resected patients neither the MTHFR A1298C nor the MTHFR C677T polymorphisms had prognostic impact. The MTHFR A1298C polymorphisms was an independent prognostic factor in patients

  9. Alterações do desenvolvimento de crianças prematuras nascidas de mães com malária no periodo gestacional

    Simões, Maria da Conceição Ribeiro

    2012-01-01

    Objetivo : O estudo buscou avaliar as alterações no desenvolvimento de crianças prematuras nascidas de mães com malária no periodo gestacional, em Porto Velho, Rondônia. O objetivo principal é descrever as alterações encontradas nessas crianças aplicando um teste preditivo para alterações no desenvolvimento e compará-las à um grupo controle de crianças prematuras nascidas de mães que não apresentaram malária no periodo gestacional. Métodos : Por ser um estudo do tipo transvers...

  10. MTHFR methylation moderates the impact of smoking on DNA methylation at AHRR for African American young adults.

    Beach, Steven R H; Lei, Man Kit; Ong, Mei Ling; Brody, Gene H; Dogan, Meeshanthini V; Philibert, Robert A

    2017-09-01

    Smoking has been shown to have a large, reliable, and rapid effect on demethylation of AHRR, particularly at cg05575921, suggesting that methylation may be used as an index of cigarette consumption. Because the availability of methyl donors may also influence the degree of demethylation in response to smoking, factors that affect the activity of methylene tetrahydrofolate reductase (MTHFR), a key regulator of methyl group availability, may be of interest. In the current investigation, we examined the extent to which individual differences in methylation of MTHFR moderated the association between smoking and demethylation at cg05575921 as well as at other loci on AHRR associated with a main effect of smoking. Using a discovery sample (AIM, N = 293), and a confirmatory sample (SHAPE, N = 368) of young adult African Americans, degree of methylation of loci in the first exon of MTHFR was associated with amplification of the association between smoking and AHRR demethylation at cg05575921. However, genetic variation at a commonly studied MTHFR variant, C677T, did not influence cg05575921 methylation. The significant interaction between MTHFR methylation and the smoking-induced response at cg05575921 suggests a role for individual differences in methyl cycle regulation in understanding the effects of cigarette consumption on genome wide DNA methylation. © 2017 Wiley Periodicals, Inc.

  11. The maternal homocysteine pathway is influenced by riboflavin intake and MTHFR polymorphisms without affecting the risk of orofacial clefts in the offspring.

    Vujkovic, M.; Steegers, E.A.P.; Meurs, J. van; Yazdanpanah, N.; Rooij, I.A.L.M. van; Uitterlinden, A.G.; Steegers-Theunissen, R.P.M.

    2010-01-01

    BACKGROUND/OBJECTIVES: Riboflavin is a cofactor for the 5,10-methylenetetrahydrofolate reductase (MTHFR) enzyme involved in the homocysteine pathway. The aim of this study was to investigate the effects of maternal riboflavin intake and two MTHFR polymorphisms (677C>T; Ala222Val and 1298A>C;

  12. Pulmonary and Cerebral Infarcts Due to Secondary Thrombosis Risk of a Genetic Mutation: Life-threating Methylentetrahydrofolate Reductase (MTHFR Deficiency with Early Onset

    Ianosi Edith Simona

    2016-06-01

    Full Text Available Methylentetrahydrofolate reductase (MTHFR is a key enzymatic component of the folate cycle, converting 5,10-methylentetrahydrofolate into 5-methylentetrahydrofolate. Severe MTHFR deficiency is a rare recessive disease leading to major hyperhomocysteinemia, homocystinuria, and progressive neurological distress within the two first decades of life.

  13. Effects of MTHFR and MS gene polymorphisms on baseline blood pressure and Benazepril effectiveness in Chinese hypertensive patients.

    Jiang, S; Yu, Y; Venners, S A; Zhang, Y; Xing, H; Wang, X; Xu, X

    2011-03-01

    The development of essential hypertension (EH) and inter-individual differences in response to antihypertensive treatment may partly result from genetic heterogeneity. In this study, we conducted an investigation of the combined effects of 5, 10-methylenetetrahydrofolate reductase (MTHFR) C677T and methionine synthase (MS) A2756G polymorphisms on baseline blood pressure (BP) and BP response to antihypertensive Benazepril treatment in 823 Chinese hypertensive patients with a fixed daily dosage of 10 mg for 15 consecutive days. When MTHFR C677T and MS A2756G polymorphisms were modelled together with adjustment for important covariates, only MTHFR C677T was associated with baseline systolic BP (SBP) (β (s.e.)=2.84 (1.10), P=0.0096) or baseline diastolic BP (DBP) (β (s.e.)=2.19 (0.65), P=0.0008). Modelled together with adjustment for important covariates, MTHFR C677T and MS A2756G polymorphisms were both independently associated with increased DBP response (baseline minus post-treatment) to Benazepril treatment (C677T: β (s.e.)=1.58 (0.76), P=0.038; A2756G: β (s.e.)=2.14 (0.89), P=0.016). Neither polymorphism was associated with SBP response to Benazepril treatment. There were no significant interactions or effect modification between MTHFR C677T and MS A2756G gene polymorphisms in models of baseline SBP, baseline DBP or DBP response to Benazepril treatment. Our results suggest that the effects of MTHFR C677T and MS A2756G gene polymorphisms may have pivotal roles in the aetiology of EH and BP response to Benazepril treatment.

  14. MTHFR polymorphisms C677T and A1298C and associations with IVF outcomes in Brazilian women.

    D'Elia, Priscila Queiroz; dos Santos, Aline Amaro; Bianco, Bianca; Barbosa, Caio Parente; Christofolini, Denise Maria; Aoki, Tsutomu

    2014-06-01

    The aim of this study was to investigate the association between MTHFR gene polymorphisms and IVF outcomes in Brazilian women undergoing assisted reproduction treatment. A prospective study was conducted in the Human Reproduction Department at the ABC University School of Medicine and the Ideia Fertility Institute between December 2010 and April 2012. The patient population was 82 women undergoing assisted reproduction cycles. The MTHFR polymorphisms C677T and A1298C were evaluated and compared with laboratory results and pregnancy rates. The C677T variant was associated with proportions of mature (P=0.006) and immature (P=0.003) oocytes whereas the A1298C variant was associated with number of oocytes retrieved (P=0.044). The polymorphisms, whether alone or in combination, were not associated with normal fertilization, good-quality embryo or clinical pregnancy rates. This study suggests that the number and maturity of oocytes retrieved may be related to the MTHFR polymorphisms C677T and A1298C. It is believed that folate has a crucial function in human reproduction and that folate deficiency can compromise the function of the metabolic pathways it is involved in, leading to an accumulation of homocysteine. The gene MTHFR encodes the 5-MTHFR enzyme, which is involved in folate metabolism, and C677T/A1298C polymorphisms of this gene are related to decreased enzyme activity and consequent changes in homocysteine concentration. Folate deficiency and hyperhomocysteinaemia can also compromise fertility and lead to pregnancy complications by affecting the development of oocytes, preparation of endometrial receptivity, implantation of the embryo and pregnancy. In folliculogenesis, hyperhomocysteinaemia can activate apoptosis, leading to follicular atresia and affecting the maturity of oocytes and the quality of embryos cultured in vitro. This study was performed to investigate the association between MTHFR polymorphisms and IVF outcomes in women undergoing assisted

  15. Impacto do diabetes gestacional nos desfechos neonatais: uma coorte retrospectiva = Impact of gestational diabetes on neonatal outcomes: a retrospective cohort study

    Amaral, Augusto Radünz do

    2015-01-01

    Conclusões: Na amostra estudada, os riscos de prematuridade, peso do recém-nascido excessivo para a idade gestacional e hipoglicemia foram maiores nos recém-nascidos de gestantes com DMG diagnosticada pelos critérios da IADPSG

  16. MTHFR Gene and Serum Folate Interaction on Serum Homocysteine Lowering: Prospect for Precision Folic Acid Treatment.

    Huang, Xiao; Qin, Xianhui; Yang, Wenbin; Liu, Lishun; Jiang, Chongfei; Zhang, Xianglin; Jiang, Shanqun; Bao, Huihui; Su, Hai; Li, Ping; He, Mingli; Song, Yun; Zhao, Min; Yin, Delu; Wang, Yu; Zhang, Yan; Li, Jianping; Yang, Renqang; Wu, Yanqing; Hong, Kui; Wu, Qinhua; Chen, Yundai; Sun, Ningling; Li, Xiaoying; Tang, Genfu; Wang, Binyan; Cai, Yefeng; Hou, Fan Fan; Huo, Yong; Wang, Hong; Wang, Xiaobin; Cheng, Xiaoshu

    2018-03-01

    This post hoc analysis of the CSPPT (China Stroke Primary Prevention Trial) assessed the individual variation in total homocysteine (tHcy)-lowering response after an average 4.5 years of 0.8 mg daily folic acid therapy in Chinese hypertensive adults and evaluated effect modification by methylenetetrahydrofolate reductase ( MTHFR ) C677T genotypes and serum folate levels. This analysis included 16 413 participants from the CSPPT, who were randomly assigned to 2 double-blind treatment groups: either 10-mg enalapril+0.8-mg folic acid or 10-mg enalapril, daily and had individual measurements of serum folate and tHcy levels at baseline and exit visits and MTHFR C677T genotypes. Mean baseline tHcy levels were comparable between the 2 treatment groups (14.5±8.5 versus 14.4±8.1 μmol/L; P =0.561). After 4.5 years of treatment, mean tHcy levels were reduced to 12.7±6.1 μmol/L in the enalapril+folic acid group, but almost stayed the same in the enalapril group (14.4±7.9 μmol/L, group difference: 1.61 μmol/L; 11% reduction). More importantly, tHcy lowering varied by MTHFR genotypes and serum folate levels. Compared with CC and CT genotypes, participants with the TT genotype had a more prominent L-shaped curve between tHcy and serum folate levels and required higher folate levels (at least 15 ng/mL) to eliminate the differences in tHcy by genotypes. Compared with CC or CT, tHcy in the TT group manifested a heightened L-shaped curve from low to high folate levels, but this difference in tHcy by genotype was eliminated when plasma folate levels reach ≈15 ng/mL or higher. Our data raised the prospect to tailor folic acid therapy according to individual MTHFR C677T genotype and folate status. URL: http://www.clinicaltrials.gov. Unique identifier: NCT00794885. © 2018 American Heart Association, Inc.

  17. Factores de riesgo para el neonato pequeño para la edad gestacional en un hospital de Lima, Perú

    J. Eduardo Tejeda-Mariaca

    Full Text Available Objetivos. Identificar factores de riesgo para neonatos a término pequeños para la edad gestacional. Materiales y métodos. Cohorte retrospectiva que utilizó datos del Sistema Informático Materno Perinatal del Hospital María Auxiliadora de Lima, del período 2000 a 2010. Se evaluó la edad materna, paridad, nivel educativo, estado civil, índice de masa corporal pregestacional, número de controles prenatales, presencia de patologías como preeclampsia, eclampsia, infección urinaria y diabetes gestacional como factores de riesgo en pequeños para edad gestacional. El peso para la edad gestacional fue calculado sobre la base de percentiles peruanos. Se calcularon los riesgos relativos crudos (RR y ajustados (RRa con sus intervalos de confianza al 95% usando modelos lineales generalizados log binomial. Resultados. Se incluyeron 64 670 gestantes. La incidencia de pequeños para la edad gestacional fue 7,2%. La preeclampsia (RRa 2,0; IC 95%: 1,86-2,15, eclampsia (RRa 3,22; IC 95%: 2,38-4,35, bajo peso materno (RRa 1,38; IC 95%: 1,23-1,54, nuliparidad (RRa 1,32; IC 95%: 1,23-1,42, edad ≥35 años (RRa 1,16; IC 95%: 1,04-1,29, tener controles prenatales de 0 a 2 (RRa 1,43; IC 95%: 1,32-1,55 y 3 a 5 (RRa 1,22; IC 95%: 1,14-1,32 fueron factores de riesgo para ser pequeños para la edad gestacional. Conclusiones. Es necesario identificar a las gestantes con factores de riesgo como los encontrados para disminuir la condición de pequeños para la edad gestacional. Se debe actuar poniendo énfasis en factores modificables, tales como la frecuencia de sus controles prenatales

  18. Diabetes gestacional na perspectiva de mulheres grávidas hospitalizadas Diabetes gestacional desde la perspectiva de mujeres embarazadas hospitalizadas Gestational diabetes from the perspective of hospitalized pregnant women

    Márcio Flávio Moura Araújo

    2013-04-01

    Full Text Available Estudo qualitativo fenomenológico, que teve como objetivo compreender o significado das experiências vivenciadas por mulheres com diabetes mellitus gestacional. Participaram 12 pacientes internadas em uma maternidade de Fortaleza-CE, Brasil, que manifestaram seus sentimentos e percepções por meio de entrevista aberta e desenhos. O material empírico foi transcrito na íntegra e, posteriormente, organizado e analisado pelo método fenomenológico. Os resultados evidenciaram dois temas: (1 Vivenciando experiências que trazem felicidade e bem-estar e (2 Vivenciando experiências que provocam sofrimento. Este estudo fenomenológico, ao possibilitar apreender a experiência das mulheres com diabetes mellitus gestacional, contribui para o planejamento e a implementação de programas de intervenção baseados em um modelo de saúde participativo, com vistas a priorizar os aspectos subjetivos envolvidos na gravidez de risco.Estudio fenomenológico cualitativo que objetivó comprender el significado de las experiencias vividas por las mujeres con diabetes mellitus gestacional. Los participantes fueron 12 pacientes ingresadas en un hospital de maternidad en la ciudad de Fortaleza, estado del Ceará, Brasil, que expresaran sus sentimientos y percepciones a través de entrevistas abiertas y dibujos. El material empírico fue transcrito completamente y luego organizado y analizado por el método fenomenológico. Los resultados revelaron dos temas: (1 Viviendo experiencias que traen felicidad y bienestar y (2 Viviendo experiencias que causan sufrimiento. Este estudio fenomenológico, que mostró la experiencia de las mujeres con diabetes mellitus gestacional, contribuye a la planificación y ejecución de programas de intervención basados en un modelo participativo de la salud, con el fin de dar prioridad a los aspectos subjetivos que intervienen en embarazos de riesgo.This phenomenological qualitative study aimed to understand the meaning of the

  19. Percentiles de peso al nacer por edad gestacional en gemelos peruanos Birth weight percentiles for Peruvian twins, according to gestational age and sex

    Manuel Ticona Rendón

    2006-09-01

    Full Text Available gestacional y sexo, hemos realizado un estudio descriptivo, transversal y prospectivo que abarca los años entre 1992 y 2004. Fueron estudiados 282 gemelos vivos, sin factores de riesgo para retardo del crecimiento, procedentes de Tacná, Perú. Se calcularon promedios, desviación estándar y percentiles 10, 50 y 90 de peso por sexo y edad gestacional comprendida entre las 32 y 41 semanas. Se compararon los percentiles y los promedios entre uno y otro sexo y con estudios realizados en Noruega, Australia y Japón, considerando significativo cuando p < 0,05. El promedio de peso al nacer fue de 2 677 g ± 507 en el caso de los varones y de 2 615 g ± 461, en el caso de las niñas, sin diferencias significativas. La moda de la edad gestacional fue de 38 semanas y las diferencias en la mediana del peso al nacer según sexo fueron de 110 g. El pico de peso al nacer para los gemelos fue de 39 semanas y a partir de este los promedios declinaron. El promedio de peso al nacer de los gemelos varones fue más alto que el de las hembras y no se observaron diferencias significativas en ninguna edad gestacional. No se apreciaron diferencias entre los promedios de peso de gemelos peruanos y noruegos, de uno u otro sexo, sin embargo se registraron diferencias altamente significativas al compararlos con los de Australia y Japón, respecto a los cuales los promedios peruanos fueron mayores. Las curvas producidas como resultado del estudio proveen percentiles de peso al nacer para gemelos, según edad gestacional y sexo, que pueden ser utilizados por clínicos e investigadores peruanos.

  20. Esotropia do adulto durante o período gestacional: relato de caso Adult esotropia during pregnancy: case report

    Luciana Negrão Frota de Almeida

    2007-02-01

    Full Text Available Os autores relatam o caso de uma paciente que apresentou quadro reincidente de esotropia aguda e diplopia durante o período gestacional. Não havia história de trauma ou qualquer alteração sistêmica, excetuando-se a gravidez. Tratamento oclusivo alternado foi instituído, e após o parto houve remissão espontânea dos sinais e sintomas.The authors report a case of a female patient who presented, for the second time, diplopia and acute esotropia during pregnancy. There was no trauma involved neither was systemic disease. The patient was treated with conventional occlusion, and, soon after delivery, the squint was resolved.

  1. Asociación entre el antecedente de nacido grande para la edad gestacional y el desarrollo de síndrome metabólico a lo largo de la vida: Revisión de la literatura

    Ivana Nieto

    2016-06-01

    Full Text Available El síndrome metabólico se caracteriza por la presencia de obesidad abdominal, triglicéridos séricoselevados, HDL bajo, tensión arterial alta y glicemia en ayunas alta. Se ha asociado el desarrollo de síndromemetabólico a lo largo de la vida con el antecedente de haber nacido grande para la edad gestacional(GEG. Existe amplia evidencia del impacto negativo sobre la salud y calidad de vida de la poblaciónque desarrolla síndrome metabólico. En esta revisión, se describe la asociación entre el antecedente dehaber nacido GEG y el desarrollo de síndrome metabólico a lo largo de la vida, a partir de la mediciónde diferentes parámetros antropométricos (índice de masa corporal –IMC–, perímetro abdominal, peso ytalla y biomarcadores séricos (Factor de necrosis tumoral Alfa-TNF alfa-, Homeostasis Model AssessmentIndex –HOMA IR–, perfil lipídico, leptina y adiponectina en alguna etapa de la vida de personas conantecedente de haber nacido GEG comparadas con aquellas nacidas con peso adecuado para la edadgestacional (PAEG. Se concluye que tanto los parámetros antropométricos como los biomarcadoresmencionados, presentan diferencias significativas entre los pacientes con antecedente de haber nacidoGEG y los nacidos PAEG. Se requiere además ahondar en otros parámetros diferentes a los mencionados,como la tensión arterial y predisponentes genéticos con estudios que permitan mayor tiempo deseguimiento para establecer una asociación más contundente entre el antecedente de haber nacido GEGy el desarrollo de síndrome metabólico posterior.

  2. PERFIL DE MÃES E RECÉM-NASCIDOS NA PRESENÇA DO DIABETES MELLITUS GESTACIONAL

    Maria Ivoneide Veríssimo de Oliveira

    2009-01-01

    Full Text Available Estudio cuantitativo con el objetivo de identificar el perfil de madres y recién nacidos (RNs en presencia de diabetes mellitus gestacional (DMG, en una maternidad escuela de Fortaleza-Ceará/2006. La muestra englobó 51 mujeres y sus recién nacidos. En relación a la madre, los resultados mostraron 60,7% con más de 30 años; 15,6% con hipertensión arterial y 29,5% con infección urinaria; 89,2% se sometió a parto cesáreo; 35,3% presentó historia familiar de diabetes; 21,5% tuvo parto prematuro; 35,2%, aborto anterior y 82,3% recibió acompañamiento médico durante el período prenatal. En cuanto a los RNs, 23,5% mamó en la primera hora de vida; 33,3% manifestó molestias respiratorias; 9,8% hipoglucemia; 25,5%, peso >4.000g; 47,0% ictericia; 5,9%, malformación fetal y 25,4%, sin otros problemas, fue encaminada al alojamiento conjunto. Ante esta situación, se señala la necesidad de que las mujeres con diabetes mellitus gestacional sean encaminadas a centros capacitados para que tengan asistencia adecuada, que garanta un acompañamiento apropiado al binomio madre-hijo.

  3. Does the MTHFR A1298C Polymorphism Modulate the Cardiorespiratory Response to Training?

    Cięszczyk, Paweł; Zarębska, Aleksandra; Jastrzębski, Zbigniew; Sawczyn, Michał; Kozakiewicz-Drobnik, Izabela; Leońska-Duniec, Agata; Kaczmarczyk, Mariusz; Maciejewska-Skrendo, Agnieszka; Żmijewski, Piotr; Trybek, Grzegorz; Smółka, Wojciech; Pilch, Jan; Leźnicka, Katarzyna; Lulińska-Kuklik, Ewelina; Sawczuk, Marek; Massidda, Myosotis

    2016-12-01

    The 5,10-methylenetetrahydrofolate reductase gene (MTHFR) A1298C polymorphic variant is a candidate to explain the individual differences in trainability and response to exercise training. Therefore, the aim of the study was to verify whether the A1298C polymorphism influenced the aerobic and anaerobic performance as well as body and mass composition in young Polish women following low-high impact aerobic exercise training. Two hundred and one women aged 21 ± 1 years (range 19-24) were included in the study. All of them completed a 12-week exercise training program and were measured for selected somatic features, aerobic capacity and cardiorespiratory fitness indices as well as peak anaerobic power and anaerobic capacity, before and after the intervention. A mixed 2 x 2 ANOVA for 20 dependent variables grouped in three categories was conducted. No significant interaction of the genotype with training for body mass and body composition variables was observed. Although, there were three significant genotype x training interactions for maximal oxygen uptake variables, regardless of body mass i.e.: for VO2max (p < 0.05), HRmax (p < 0.0001) and HRAT/HRmax (p < 0.0001). Significantly greater improvement in VO2max was gained by the CC+AC group compared to the AA genotype group. The present results support the hypothesis that individual differences in trainability are at least in part determined by the genetic component and MTHFR A1298C seems to be one of the many polymorphisms involved.

  4. MTHFR C677T genotype and cardiovascular risk in a general population without mandatory folic acid fortification

    Husemoen, Lise Lotte N; Skaaby, Tea; Jørgensen, Torben

    2014-01-01

    Meta-analyses have suggested an effect of MTHFR C677T genotype (rs1801133), a proxy for blood total homocysteine, on cardiovascular disease (CVD) in populations with low population dietary folate. The aim was to examine the association and effect modification by serum folate and vitamin B12 levels...

  5. Spectrum of MTHFR gene SNPs C677T and A1298C: a study among 23 population groups of India.

    Saraswathy, Kallur Nava; Asghar, Mohammad; Samtani, Ratika; Murry, Benrithung; Mondal, Prakash Ranjan; Ghosh, Pradeep Kumar; Sachdeva, Mohinder Pal

    2012-04-01

    Elevated homocysteine is a risk factor for many complex disorders. The role of methylenetetrahydrofolate reductase (MTHFR) gene in methylation of homocysteine makes it one of the most important candidate genes for these disorders. Considering the heterogeneity in its distribution in world populations, we screened MTHFR C677T and A1298C single nucleotide polymorphisms in a total of 23 Indian caste, tribal and religious population groups from five geographical regions of India and belonging to four major linguistic groups. The frequencies of MTHFR 677T and 1298C alleles were found to be 10.08 and 20.66%, respectively. MTHFR homozygous genotype 677TT was absent in eight population groups and homozygous 1298CC was absent in two population groups. 677T allele was found to be highest among north Indian populations with Indo-European tongue and 1298C was high among Dravidian-speaking tribes of east India and south India. The less common mutant haplotype 677T-1298C was observed among seven population groups and overall the frequency of this haplotype was 0.008, which is similar to that of African populations. cis configuration of 677T and 1298C was 0.94%. However, we could not find any individual with four mutant alleles which supports the earlier observation that presence of more than two mutant alleles may decrease the viability of foetus and possibly be a selective disadvantage in the population.

  6. Association of Polymorphisms in BDNF, MTHFR, and Genes Involved in the Dopaminergic Pathway with Memory in a Healthy Chinese Population

    Yeh, Ting-Kuang; Hu, Chung-Yi; Yeh, Ting-Chi; Lin, Pei-Jung; Wu, Chung-Hsin; Lee, Po-Lei; Chang, Chun-Yen

    2012-01-01

    The contribution of genetic factors to the memory is widely acknowledged. Research suggests that these factors include genes involved in the dopaminergic pathway, as well as the genes for brain-derived neurotrophic factor (BDNF) and methylenetetrahydrofolate reductase (MTHFR). The activity of the products of these genes is affected by single…

  7. Are effects of MTHFR (C677T) genotype on BMD confined to women with low folate and riboflavin intake?

    Abrahamsen, B.; Madsen, Jonna Skov; Tofteng, Charlotte L.

    2005-01-01

    by vitamin B supplementation. We have, therefore, reviewed baseline food record data from our original study to determine if BMD and fracture associations with the MTHFR genotype depended on the intake of folate, riboflavin, or other members of the vitamin B complex, associated with homocysteine metabolism...

  8. The relationship between MTHFR gene polymorphisms, plasma homocysteine levels and diabetic retinopathy in type 2 diabetes mellitus

    孙家忠; 徐焱成; 朱宜莲; 鲁红云; 邓浩华; 范幼筠; 孙苏欣; 张颖

    2003-01-01

    Objective To evaluate the role of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and plasma homocysteine levels in patients with type 2 diabetes mellitus and diabetic retinopathy (DR). Methods Total of 208 patients with type 2 diabetes mellitus and 57 controls were recruited into the study. MTHFR genetic C677T polymorphisms were determined by PCR-RFLP. Plasma total homocysteine levels were measured using high-performance liquid chromatography (HPLC) with fluorescence detection. Results The frequencies of MTHFR TT homogeneous type, CT heterogeneous type and allele T (28.18%, 41.82%, 49.09%) were significantly higher in the type 2 diabetes mellitus with diabetic retinopathy group than those without retinopathy (18.37%, 29.59%, 33.16%) and those of controls (17.54%, 28.07%, 31.58%). The presence of the T allele appeared to have a strong association with the development of diabetic retinopathy. The odds ratio was 1.94 with a 95% confidence interval of 1.31-2.88. Moreover, plasma homocysteine levels were remarkably higher in patients with TT or CT genotype than in patients with the CC genotype. Conclusion MTHFR gene C677T mutation associated with a predisposition to increased plasma homocysteine levels may be considered as a genetic risk factor for diabetic microangiopathy (such as DR) in Chinese patients with type 2 diabetes mellitus.

  9. Effects of Italian Mediterranean organic diet vs. low-protein diet in nephropathic patients according to MTHFR genotypes.

    Di Daniele, Nicola; Di Renzo, Laura; Noce, Annalisa; Iacopino, Leonardo; Ferraro, Pietro Manuel; Rizzo, Mariagiovanna; Sarlo, Francesca; Domino, Emidio; De Lorenzo, Antonino

    2014-10-01

    Several reports associate an Italian-style Mediterranean diet (IMD) with lower risk of cardiovascular disease and morbidity. The present study aimed to explore the effects of an Italian Mediterranean organic diet (IMOD) versus low-protein diet (LPD) in chronic kidney disease (CKD) patients, according to patients' carrier status for the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism. A total of 40 male patients with CKD and stable renal function (Kidney Disease Outcomes Quality Initiative stages 2 and 3) were classified according to MTHFR polymorphism as carrier T(+) or non carrier T(-). At the time of enrolment (T0) patients' diet consisted of LPD; they were then administered IMD for 14 days (T1), thereupon IMOD for 14 days (T2). Patients underwent a complete medical history, body composition assessment and biochemical analysis. Baseline homocysteine levels were on average 8.24 mol/l higher (95 % confidence interval 6.47, 10.00) among T(+) than T(-) and the difference was statistically significant (p < 0.001). We found a significant interaction between MTHFR status and the effect of both the IMD and IMOD on homocysteine levels compared to LPD (p for interaction <0.001). Both the IMD and IMOD resulted in significant variations of anthropometric and laboratory measurements. IMD and IMOD diets could represent a viable alternative to LPD in CKD patients on conservative therapy. The effect of these diets seems to be influenced by MTHFR genotypes.

  10. High folic acid consumption leads to pseudo-MTHFR deficiency, altered lipid metabolism, and liver injury in mice.

    Christensen, K. E.; Mikael, L. G.; Leung, K. Y.; Lévesque, N.; Deng, L.; Wu, Q.; Malysheva, O. V.; Best, A.; Caudill, M. A.; Greene, N. D.; Rozen, R.

    2015-01-01

    Increased consumption of folic acid is prevalent, leading to concerns about negative consequences. The effects of folic acid on the liver, the primary organ for folate metabolism, are largely unknown. Methylenetetrahydrofolate reductase (MTHFR) provides methyl donors for S-adenosylmethionine (SAM) synthesis and methylation reactions.

  11. Effects of Common Polymorphisms in the MTHFR and ACE Genes on Diabetic Peripheral Neuropathy Progression: a Meta-Analysis.

    Wu, Shuai; Han, Yan; Hu, Qiang; Zhang, Xiaojie; Cui, Guangcheng; Li, Zezhi; Guan, Yangtai

    2017-05-01

    Diabetic peripheral neuropathy (DPN) is a microvascular complication of diabetes mellitus. The aim of this meta-analysis was to evaluate the effects of methylenetetrahydrofolate reductase (MTHFR) 677 C>T and ACE I/D polymorphisms in the development of DPN. We systematically reviewed published studies on MTHFR 677 C>T and ACE I/D polymorphisms and DPN found in various types of electronic databases. Strengthening the Reporting of Observational studies in Epidemiology (STROBE) quality score systems were used to determine the quality of the articles selected for inclusion. Odds ratios (ORs) and its corresponding 95 % confidence interval (95 % CI) were calculated. We used STATA statistical software (version 12.0, Stata Corporation, College Station, TX, USA) to deal with statistical data. Our results indicated an association of ACE D>I mutation (OR = 1.43, 95 % CI 1.12-1.83, P = 0.004) and MTHFR 677 C>T mutation (OR = 1.43, 95 % CI 1.08-1.90, P = 0.014) with DPN under the allele model, and similar results were also found under the dominant model (all P T polymorphism may be the main risk factor for DPN in Turkey under four genetic models. ACE D>I mutation was correlated with DPN in Japanese and Pakistani populations in the majority of groups. The relationships of MTHFR 677 C>T and ACE I/D polymorphisms with DPN patients presented in this meta-analyses support the view that the MTHFR and ACE genes might play an important role in the development of DPN.

  12. FutureGen Project Report

    Cabe, Jim; Elliott, Mike

    2010-09-30

    This report summarizes the comprehensive siting, permitting, engineering, design, and costing activities completed by the FutureGen Industrial Alliance, the Department of Energy, and associated supporting subcontractors to develop a first of a kind near zero emissions integrated gasification combined cycle power plant and carbon capture and storage project (IGCC-CCS). With the goal to design, build, and reliably operate the first IGCC-CCS facility, FutureGen would have been the lowest emitting pulverized coal power plant in the world, while providing a timely and relevant basis for coal combustion power plants deploying carbon capture in the future. The content of this report summarizes key findings and results of applicable project evaluations; modeling, design, and engineering assessments; cost estimate reports; and schedule and risk mitigation from initiation of the FutureGen project through final flow sheet analyses including capital and operating reports completed under DOE award DE-FE0000587. This project report necessarily builds upon previously completed siting, design, and development work executed under DOE award DE-FC26- 06NT4207 which included the siting process; environmental permitting, compliance, and mitigation under the National Environmental Policy Act; and development of conceptual and design basis documentation for the FutureGen plant. For completeness, the report includes as attachments the siting and design basis documents, as well as the source documentation for the following: • Site evaluation and selection process and environmental characterization • Underground Injection Control (UIC) Permit Application including well design and subsurface modeling • FutureGen IGCC-CCS Design Basis Document • Process evaluations and technology selection via Illinois Clean Coal Review Board Technical Report • Process flow diagrams and heat/material balance for slurry-fed gasifier configuration • Process flow diagrams and heat/material balance

  13. Algoritmos genéticos locales

    García-Martínez, Carlos; Lozano, Manuel

    2007-01-01

    Los Algoritmos Genéticos Locales son procedimientos que iterativamente re nan soluciones dadas. Su diferencia con procedimientos de mejora iterativa clásicos reside en el uso de operadores genéticos para realizar el re namiento. En este estudio presentamos un nuevo Algoritmo Genético Local Binario basado en un Algoritmo Genético Estacionario. Hemos comparado el Algoritmo Genético Local Binario con otros procedimientos de mejora iterativa de la literatura. Los res...

  14. Methylenetetrahydrofolate reductase genotypes and predisposition to atherothrombotic disease; evidence that all three MTHFR C677T genotypes confer different levels of risk.

    Kluijtmans, L.A.J.; Whitehead, A.S.

    2001-01-01

    AIMS: Elevated plasma homocysteine is an independent risk factor for atherothrombotic disease. Individuals homozygous for the methylenetetrahydrofolate reductase (MTHFR) 677C allele exclusively accumulate 5methyltetrahydrofolate, the methyl donor for homocysteine remethylation, in their red blood

  15. Associations of Polymorphisms in MTHFR Gene with the Risk of Age-Related Cataract in Chinese Han Population: A Genotype-Phenotype Analysis.

    Xue-bin Wang

    Full Text Available Homocysteine (Hcy is a potential risk factor for age-related cataract (ARC. Methylenetetrahydrofolate reductase (MTHFR is the key enzyme for Hcy metabolism, and variants of MTHFR may affect MTHFR enzyme activity. This study mainly evaluated the associations between variants in MTHFR gene, plasma MTHFR enzyme activity, total Hcy (tHcy levels and ARC risk in Chinese population. Four single nucleotide polymorphisms (SNPs in MTHFR gene were genotyped using the high-resolution melting (HRM method in 502 ARC patients (mean age, 70.2 [SD, 9.0], 46.0% male and 890 healthy controls (mean age, 67.1 [SD, 11.1], 47.6% male. The plasma MTHFR activity, folic acid (FA, vitamins B12 and B6 levels were detected by enzyme-linked immunosorbent assays (ELISA. The plasma tHcy levels were measured by an automated enzymatic assay. After the Bonferroni correction, the minor allele T of SNP rs1801133 showed a significant association with an increased risk of overall ARC (OR = 1.26, P = 0.003. Consistent association was also found between SNP rs1801133 and cortical ARC risk (OR = 1.44, P = 0.003. Haplotype analyses revealed an adverse effect of the haplotype "C-A-T-C" (alleles in order of SNPs rs3737967, rs1801131, rs1801133 and rs9651118 on ARC risk (OR = 1.55, P = 0.003. Moreover, in a joint analysis of SNPs rs9651118 and rs1801133, subjects with two unfavorable genotypes had a 1.76-fold increased risk of ARC compared with the reference group, and a statistically significant dose-response trend (Ptrend = 0.001 was also observed. Further, in healthy controls and patients with cortical ARC, the allele T of SNP rs1801133 and the increasing number of unfavorable genotypes were significantly correlated with decreased MTHFR activity as well as increased tHcy levels. However, there was no significant association between FA, vitamins B12, B6 levels and MTHFR variants. Our data indicated that variants in MTHFR gene might individually and jointly influence susceptibility to ARC

  16. GenLab, Laboratorio Virtual de Genética

    Fidel Ramírez

    2000-07-01

    Full Text Available GenLab es el nombre que tiene el software diseñado por nosotros, en el cual se modela el proceso meiótico y la fecundación en organismos diploides. El objetivo de esta aplicación es ilustrar el resultado de un cruce determinado, tratando de ser lo más ajustados a la realidad. La modelación de la reproducción sexual se realiza internamente y el GenLab se limita a presentar los resultados según el número de descendencia seleccionado para un cruce específico, esto significa que se puede escoger una gran cantidad de características para los parentales y se puede estudiar la frecuencia de estos en la descendencia. El modelo cuenta con base de datos donde están almacenados algunos de los locus de Drosophila melanogaster junto con su ubicación en centimorgans 1. EI propósito de este modelo es servir como herramienta pedagógica  y didáctica tanto en universidades como en colegios, facilitando el aprendizaje de algunos principios básicos de la genética, por lo cual puede ser usado si se cuenta con una conexión a Internet y un navegador visitando http://biologia.unal.edu.co/fidel.

  17. Taxonomic dissection of the genus Micrococcus: Kocuria gen. nov., Nesterenkonia gen. nov., Kytococcus gen. nov., Dermacoccus gen. nov., and Micrococcus Cohn 1872 gen. emend.

    Stackebrandt, E; Koch, C; Gvozdiak, O; Schumann, P

    1995-10-01

    The results of a phylogenetic and chemotaxonomic analysis of the genus Micrococcus indicated that it is significantly heterogeneous. Except for Micrococcus lylae, no species groups phylogenetically with the type species of the genus, Micrococcus luteus. The other members of the genus form three separate phylogenetic lines which on the basis of chemotaxonomic properties can be assigned to four genera. These genera are the genus Kocuria gen. nov. for Micrococcus roseus, Micrococcus varians, and Micrococcus kristinae, described as Kocuria rosea comb. nov., Kocuria varians comb. nov., and Kocuria kristinae comb. nov., respectively; the genus Nesterenkonia gen. nov. for Micrococcus halobius, described as Nesterenkonia halobia comb. nov.; the genus Nesterenkonia gen. nov. for Micrococcus halobius, described as Nesterenkonia halobia comb. nov.; the genus Dermacoccus gen. nov. for Micrococcus nishinomiyaensis, described as Dermacoccus nishinomiyaensis comb. nov.; and the genus Kytocossus gen. nov. for Micrococcus sedentarius, described as Kytococcus sedentarius comb. nov. M. luteus and M. lylae, which are closely related phylogenetically but differ in some chemotaxonomic properties, are the only species that remain in the genus Micrococcus Cohn 1872. An emended description of the genus Micrococcus is given [corrected].

  18. Estado nutricional materno, ganho de peso gestacional e peso ao nascer Maternal nutritional status, gestational weight gain and birth weight

    Adriana Suely de Oliveira Melo

    2007-06-01

    Full Text Available INTRODUÇÃO: Tanto o estado nutricional materno como o ganho de peso gestacional vem sendo estudado em relação ao papel determinante que desempenham sobre o crescimento fetal e o peso ao nascer. O peso inadequado ao nascer é uma das grandes preocupações da saúde pública devido ao aumento da morbimortalidade no primeiro ano de vida e ao maior risco de desenvolver doenças na vida adulta, tais como a síndrome metabólica, nos casos de baixo peso, e diabetes e obesidade, nos casos de macrossomia. O objetivo deste trabalho foi descrever uma coorte de gestantes, classificando-as de acordo com o estado nutricional inicial, o ganho ponderal gestacional, a resistência nas artérias uterinas e o peso dos recém-nascidos. MÉTODOS: foi acompanhada, a cada quatro semanas gestacionais, uma coorte de 115 gestantes atendidas pelo Programa de Saúde da Família do município de Campina Grande, PB. O estado nutricional inicial foi determinado através do índice de massa corporal (kg/m² para a idade gestacional, e as gestantes classificadas de acordo com os critérios de Atalah. Na 20ª semana, foi estudada a resistência das artérias uterinas, através da dopplervelocimetria. RESULTADOS: o estado nutricional inicial mostrou uma alta prevalência de sobrepeso e obesidade (27%, e uma prevalência significante de desnutrição (23%. Um alto percentual de gestantes ganhou peso excessivo tanto no segundo (44% como no terceiro trimestre (45%. A distribuição do peso ao nascer, indicou uma incidência de 10% de baixo peso e de 9% de macrossomia. Observou-se ainda, uma alta prevalência de incisuras nas artérias uterinas.INTRODUCTION: Maternal nutritional status and gestational weight gain have been addressed because of their importance to fetal growth and birth weight. Inadequate birth weight is a major concern to public health given it has been associated with increasing morbidity-mortality during the first year of life and with increased risks of

  19. Indicadores de risco de morbimortalidade em recém-nascidos de mães que desenvolveram Diabetes mellitus gestacional

    Iris Rolim Silva, Assíria

    2002-01-01

    88 GRÁVIDAS COM DIABETES GESTACIONAL E SEUS RECÉM-NASCIDOS FORAM ESTUDADOS NA MATERNIDADE DO HOSPITAL BARÃO DE LUCENA, QUE É CENTRO DE REFERÊNCIA EM GRAVIDEZ DE ALTO RISCO NO PERÍODO COMPREENDIDO ENTRE JANEIRO DE 1996 A DEZEMBRO DE 1999. O OBJETIVO DO ESTUDADO FOI IDENTIFOCAR QUAIS OS FATORES DE RISCO MATERNOS QUE PODERIAM PREDISPOR AO APARECIMENTO DE MORBIDADES NEONATAIS MAIS COMUNS. AS MORBIDADES NEONATAIS CONSIDERADAS FORAM PREMATURIDADE, MACROSSOMIA, HIPOGLICEMIA, HIPOCALCEMIA, POLICITEMI...

  20. Correlation Between C677T and A1298C Mutations on the MTHFR Gene With Plasma Homocysteine Levels and Venous Thrombosis in Pregnant Women at Risk of Thrombosis

    Kazem Ghaffari

    2015-12-01

    Full Text Available Background: Deep venous thrombosis (DVT is a common disease with a high morbidity, mortality and increase in miscarriages. Objectives: The purpose of this study was to assessment the correlation between C677T and A1298C mutations on the methylenetetrahydrofolate reductase (MTHFR gene with total plasma homocysteine levels and deep venous thrombosis in pregnant women at risk of thrombosis. Patients and Methods: In this case-control study, 120 pregnant women with risk of DVT and 100 pregnant women without risk of DVT were included in the study. Assay for identification of MTHFR mutations was carried out by PCR-RFLP. Total plasma homocysteine was measured by ELISA method. Results: Homozygous (MM mutations of MTHFR C677T and A1298C were not associated with DVT in pregnant women with and without DVT, respectively. Plasma homocysteine levels were significantly higher in pregnant women with DVT (18.3 ± 5.9 μmol/L than in the pregnant women without DVT (8.9 ± 6.4 μmol/L in C677T and A1298C mutations on the MTHFR gene, respectively (P = 0.021. Conclusions: Our results showed that MTHFR C677T and MTHFR A1289C polymorphisms are not connected with total plasma homocysteine levels in pregnant women with and without DVT. Also, plasma homocysteine levels were significantly higher in pregnant women with DVT.

  1. A study on genetic mutations within the human methylenetetrahydrofolate reductase (MTHFR) gene in cases of colorectal carcinoma in Egypt

    Abdel Menem, H.A.

    2009-01-01

    Methylenetetrahydrofolate reductase (MTHFR) is the enzyme responsible for the reduction of methylenetetrahydrofolate, a key single-carbon donor in nucleotide synthesis and the methylation of DNA. In this pilot study we investigated two common polymorphisms in the MTHFR gene 677C→T and 1298A→C and their association with enhanced risk of colorectal cancer (CRC) in a sample of egyptian individuals. Venous blood samples were withdrawn from 35 cases of CRC and 68 healthy controls . Specimens from colonic and rectal carcinoma tissues in addition to cancer free tissues were obtained from all cases. Polymorphisms was studied by RFLP analysis and confirmed by SSCP analysis using hot SSCP (∼ 1200 Ci/m mol α d ATP S35) and cold SSCP. Frequencies of MTHFR677T and 1298C alleles were significantly higher among cases of CRC tumor tissues (50 % and 56 %, respectively) than germ line alleles in CRC patients (33 % and 41 %, respectively) and healthy controls (21 % and 35 %, respectively). Heterozygous and homozygous polymorphism frequencies of MTHFR at positions 677 and 1298 in carcinoma tissues were always the highest. At position 677TT and CT genotype frequencies were 17 % and 66 % with an odds ratio (OR) of 11(95 % confidence interval (CI) 2.39-50.59) and OR 8.34 (95 % CI 2.97-23.92), respectively, in carcinoma tissues. While in the germ line of patients the genotype frequencies of 677TT and CT were 6 % and 54 % with OR 1.57 (95 % CI 0.26-9.51) and 2.99 (95 % CI 1.25-7-12), respectively, compared to control (6 % and 29 %, respectively). The combined genotype MTHFR1298 CC+AC frequencies were 86 % with OR 3.71(95 % CI 1.28-10.78) in carcinoma tissues, 69 % with OR 1.35(95 % CI 0.57-3.21) in germ line of patients and 62 % in controls. The combined genotype 677CT plus any of the following genotypes 1298 AA, AC or CC enhanced risk of CRC, when comparing germ line DNA polymorphism of patients versus peripheral blood DNA of control subjects OR 4.5(95 % CI 0.94-21.56), OR 3.12 (95

  2. Associations between Methylenetetrahydrofolate Reductase (MTHFR Polymorphisms and Non-Alcoholic Fatty Liver Disease (NAFLD Risk: A Meta-Analysis.

    Man-Yi Sun

    Full Text Available C677T and A1298C are the most common allelic variants of Methylenetetrahydrofolate Reductase (MTHFR gene. The association between MTHFR polymorphisms and the occurrence of non-alcoholic fatty liver disease (NAFLD remains controversial. This study was thus performed to examine whether MTHFR mutations are associated with the susceptibility to NAFLD.A first meta-analysis on the association between the MTHFR polymorphisms and NAFLD risks was carried out via Review Manager 5.0 and Stata/SE 12.0 software. The on-line databases, such as PubMed, EMBASE, CENTRAL, WOS, Scopus and EBSCOhost (updated to April 1st, 2016, were searched for eligible case-control studies. The odd radio (OR, 95% confidence interval (CI and P value were calculated through Mantel-Haenszel statistics under random- or fixed-effect model.Eight articles (785 cases and 1188 controls contributed data to the current meta-analysis. For C677T, increased NAFLD risks were observed in case group under homozygote model (T/T vs C/C, OR = 1.49, 95% CI = 1.03~2.15, P = 0.04 and recessive model (T/T vs C/C+C/T, OR = 1.42, 95% CI = 1.07~1.88, P = 0.02, but not the other genetics models, compared with control group. For A1298C, significantly increased NAFLD risks were detected in allele model (C vs A, OR = 1.53, 95% CI = 1.13~2.07, P = 0.006, homozygote model (C/C vs A/A, OR = 2.81, 95% CI = 1.63~4.85, P = 0.0002, dominant model (A/C+C/C vs A/A, OR = 1.60, 95% CI = 1.06~2.41, P = 0.03 and recessive model (C/C vs A/A+A/C, OR = 2.08, 95% CI = 1.45~3.00, P<0.0001, but not heterozygote model.T/T genotype of MTHFR C677T polymorphism and C/C genotype of MTHFR A1298C are more likely to be associated with the susceptibility to NAFLD.

  3. Associations between Methylenetetrahydrofolate Reductase (MTHFR) Polymorphisms and Non-Alcoholic Fatty Liver Disease (NAFLD) Risk: A Meta-Analysis

    Sun, Man-Yi; Zhang, Li; Shi, Song-Li; Lin, Jing-Na

    2016-01-01

    Background C677T and A1298C are the most common allelic variants of Methylenetetrahydrofolate Reductase (MTHFR) gene. The association between MTHFR polymorphisms and the occurrence of non-alcoholic fatty liver disease (NAFLD) remains controversial. This study was thus performed to examine whether MTHFR mutations are associated with the susceptibility to NAFLD. Methods A first meta-analysis on the association between the MTHFR polymorphisms and NAFLD risks was carried out via Review Manager 5.0 and Stata/SE 12.0 software. The on-line databases, such as PubMed, EMBASE, CENTRAL, WOS, Scopus and EBSCOhost (updated to April 1st, 2016), were searched for eligible case-control studies. The odd radio (OR), 95% confidence interval (CI) and P value were calculated through Mantel-Haenszel statistics under random- or fixed-effect model. Results Eight articles (785 cases and 1188 controls) contributed data to the current meta-analysis. For C677T, increased NAFLD risks were observed in case group under homozygote model (T/T vs C/C, OR = 1.49, 95% CI = 1.03~2.15, P = 0.04) and recessive model (T/T vs C/C+C/T, OR = 1.42, 95% CI = 1.07~1.88, P = 0.02), but not the other genetics models, compared with control group. For A1298C, significantly increased NAFLD risks were detected in allele model (C vs A, OR = 1.53, 95% CI = 1.13~2.07, P = 0.006), homozygote model (C/C vs A/A, OR = 2.81, 95% CI = 1.63~4.85, P = 0.0002), dominant model (A/C+C/C vs A/A, OR = 1.60, 95% CI = 1.06~2.41, P = 0.03) and recessive model (C/C vs A/A+A/C, OR = 2.08, 95% CI = 1.45~3.00, P<0.0001), but not heterozygote model. Conclusion T/T genotype of MTHFR C677T polymorphism and C/C genotype of MTHFR A1298C are more likely to be associated with the susceptibility to NAFLD. PMID:27128842

  4. Disfunção sexual: Avaliação de mulheres durante o terceiro trimestre gestacional

    Ana Eliza Rios de Araújo Mathias

    2015-08-01

    Full Text Available Introdução: Disfunção sexual (DS é caracterizada pela falta, excesso, desconforto e/ou dor no desenvolvimento do ciclo da resposta sexual, se manifestando de forma persistente ou recorrente. Objetivo: Determinar a prevalência das disfunções sexuais femininas em gestantes de baixo risco no terceiro trimestre e verificar sua associação com fatores de risco. Métodos: É um estudo transversal composto por 102 gestantes de baixo risco durante o terceiro trimestre gestacional e com vida sexual ativa, que estiveram em acompanhamento nos postos de saúde das cidades de Petrolina (PE e Juazeiro (BA entre setembro de 2013 e março de 2014. Para isso, utilizou-se uma ficha de dados pessoais, com características sociodemográficas e clínicas e o questionário Female Sexual Function Index (FSFI. Foram calculadas prevalências e possíveis associações por meio do teste do χ2. Em todas as análises foi adotado o nível de significância de p˂0,05. Intervalos de confiança (IC95%, quando determinados, foram exatos. Resultados: Do total da amostra, 45,1% apresentaram disfunção sexual com taxa média de função sexual feminina de 26,15. Os menores escores de domínios foram em desejo e excitação. Ocorreu ainda associação de disfunção sexual com paridade. Conclusão: O presente estudo evidenciou uma taxa moderada de mulheres com disfunção sexual no terceiro trimestre gestacional, mostrando uma diminuição significativa em todos os domínios do FSFI. Além disso, constatou-se diferença estatisticamente significativa na associação de disfunção sexual com a variável paridade. Contudo, não foi encontrada diferença significativa na disfunção sexual com a variável idade, índice de massa corpórea, escolaridade e renda familiar.

  5. Does the MTHFR A1298C Polymorphism Modulate the Cardiorespiratory Response to Training?

    Cięszczyk Paweł

    2016-12-01

    Full Text Available The 5,10-methylenetetrahydrofolate reductase gene (MTHFR A1298C polymorphic variant is a candidate to explain the individual differences in trainability and response to exercise training. Therefore, the aim of the study was to verify whether the A1298C polymorphism influenced the aerobic and anaerobic performance as well as body and mass composition in young Polish women following low-high impact aerobic exercise training. Two hundred and one women aged 21 ± 1 years (range 19–24 were included in the study. All of them completed a 12-week exercise training program and were measured for selected somatic features, aerobic capacity and cardiorespiratory fitness indices as well as peak anaerobic power and anaerobic capacity, before and after the intervention. A mixed 2 x 2 ANOVA for 20 dependent variables grouped in three categories was conducted. No significant interaction of the genotype with training for body mass and body composition variables was observed. Although, there were three significant genotype x training interactions for maximal oxygen uptake variables, regardless of body mass i.e.: for VO2max (p < 0.05, HRmax (p < 0.0001 and HRAT/HRmax (p < 0.0001. Significantly greater improvement in VO2max was gained by the CC+AC group compared to the AA genotype group. The present results support the hypothesis that individual differences in trainability are at least in part determined by the genetic component and MTHFR A1298C seems to be one of the many polymorphisms involved.

  6. Methylenetetrahydrofolate Reductase (MTHFR) (C677T and A1298C) Polymorphisms and Vascular Complications in Patients with Type 2 Diabetes.

    Fekih-Mrissa, Najiba; Mrad, Meriem; Ibrahim, Hazard; Akremi, Imen; Sayeh, Aicha; Jaidane, Amel; Ouertani, Haroun; Zidi, Borni; Gritli, Nasreddine

    2017-08-01

    To assess whether 2 polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C, are risk factors for vascular complications in Tunisian patients with type 2 diabetes mellitus. The MTHFR polymorphisms were genotyped, and plasma homocysteine levels were evaluated in 160 Tunisian patients with type 2 diabetes mellitus. Prevalence of the 2 heterozygous polymorphisms of the thermolabile MTHFR gene (CT and AC) was encountered more commonly in patients with diabetes mellitus than in the healthy controls (phomocysteine (Hcy) levels than the control subjects; however, there was no statistical difference in plasma Hcy values between carriers of mutant genotypes (CT/TT for C677T and AC/CC for A1298C) and wild types (CC and AA) in patients with diabetes. Retinopathy was found to be a vascular complication in patients with either the 677CT or the 1298(AC+CC) genotype more commonly than in those with the wild-type genotypes (p=0.003; OR=3.2, 95% CI, 1.4 to 7.4; p<10 -3 ; OR=5.9, 95% CI, 2.7 to 13). Only patients who carry the A1298C mutation (AC+CC) are at risk for at least 1 complication (p=0.002). Double heterozygous mutants were at the greatest risk for retinopathy and for suffering at least 1 complication (p<10 -3 ). Studies involving a larger study population and various ethnic groups are required before ruling out the role of MTHFR gene in type 2 diabetes mellitus and in vascular complications. Copyright © 2017 Diabetes Canada. Published by Elsevier Inc. All rights reserved.

  7. Prediction of Methotrexate Clinical Response in Portuguese Rheumatoid Arthritis Patients: Implication of MTHFR rs1801133 and ATIC rs4673993 Polymorphisms

    Lima, Aurea; Monteiro, Joaquim; Bernardes, Miguel; Sousa, Hugo; Azevedo, Rita; Seabra, Vitor; Medeiros, Rui

    2014-01-01

    Objective. Methotrexate (MTX), the most used drug in rheumatoid arthritis (RA) treatment, showing variability in clinical response, is often associated with genetic polymorphisms. This study aimed to elucidate the role of methylenetetrahydrofolate reductase (MTHFR) C677T and aminoimidazole carboxamide adenosine ribonucleotide transformylase (ATIC) T675C polymorphisms and clinicopathological variables in clinical response to MTX in Portuguese RA patients. Methods. Study included 233 RA patients treated with MTX for at least six months. MTHFR C677T and ATIC T675C polymorphisms were genotyped and clinicopathological variables were collected. Statistical analyses were performed and binary logistic regression method adjusted to possible confounding variables. Results. Multivariate analyses demonstrated that MTHFR 677TT (OR = 4.63; P = 0.013) and ATIC 675T carriers (OR = 5.16; P = 0.013) were associated with over 4-fold increased risk for nonresponse. For clinicopathological variables, noncurrent smokers (OR = 7.98; P = 0.001), patients positive to anti-cyclic citrullinated peptide (OR = 3.53; P = 0.004) and antinuclear antibodies (OR = 2.28; P = 0.045), with higher health assessment questionnaire score (OR = 2.42; P = 0.007), and nonsteroidal anti-inflammatory drug users (OR = 2.77; P = 0.018) were also associated with nonresponse. Contrarily, subcutaneous administration route (OR = 0.11; P < 0.001) was associated with response. Conclusion. Our study suggests that MTHFR C677T and ATIC T675C genotyping combined with clinicopathological data may help to identify patients whom will not benefit from MTX treatment and, therefore, assist clinicians in personalizing RA treatment. PMID:24967362

  8. MTHFR Gene C677T Mutation and ACE Gene I/D Polymorphism in Turkish Patients with Osteoarthritis

    Ahmet Inanir

    2013-01-01

    Full Text Available Osteoarthritis is a degenerative joint disorder resulting in destruction of articular cartilage, osteophyte formation, and subchondral bone sclerosis. In recent years, numerous genetic factors have been identified and implicated in osteoarthritis. The aim of the current study was to examine the influence of methylenetetrahydrofolate reductase (MTHFR gene C677T mutation and angiotensin converting enzyme (ACE gene insertion/deletion (I/D variations on the risk of osteoarthritis.

  9. The MTHFR 677TT genotype and folate intake interact to lower global leukocyte DNA methylation in young Mexican American women.

    Axume, Juan; Smith, Steven S; Pogribny, Igor P; Moriarty, David J.; Caudill., Marie A.

    2007-01-01

    DNA methylation is an epigenetic feature that is associated with X chromosome inactivation, genomic imprinting, transcriptional silencing of genes and genomic stability. Folate provides a labile source of methyl groups which may be used for cellular methylation reactions including DNA methylation. The methylenetetrahydrofolate reductase (MTHFR) 677C→T variant is an important determinant of folate nutriture and may influence DNA methylation. This study sought to assess the influence of the MTH...

  10. Aberrant DNA methylation associated with MTHFR C677T genetic polymorphism in cutaneous squamous cell carcinoma in renal transplant patients.

    Laing, M E

    2010-08-01

    Changes in genomic DNA methylation associated with cancer include global DNA hypomethylation and gene-specific hyper- or hypomethylation. We have previously identified a genetic variant in the MTHFR gene involved in the methylation pathway which confers risk for the development of squamous cell carcinoma (SCC) in renal transplant patients. This genetic variant has also been discovered to confer SCC risk in nontransplant patients with low folate status.

  11. Association of MTHFR and PPARγ2 gene polymorphisms in relation to type 2 diabetes mellitus cases among north Indian population.

    Raza, Syed Tasleem; Abbas, Shania; Ahmed, Faisal; Fatima, Jalees; Zaidi, Zeashan Haider; Mahdi, Farzana

    2012-12-15

    Type 2 diabetes mellitus is a multifactorial and polygenic disease, which is considered as a major life threatening problem all over the world. There has been a worldwide effort in the identification of susceptibility genes for type 2 diabetes mellitus and its complications. At present, adequate data is not available dealing with MTHFR (rs1801133) and PPARγ2 (rs1801282) gene polymorphisms and its association with type 2 diabetes mellitus cases among north Indian populations. Thus, we conceived the need for further studies to investigate MTHFR and PPARγ2 gene polymorphisms and their susceptibility to type 2 diabetes mellitus in north Indian population. In this study, a total 175 subjects including 87 type 2 diabetes mellitus cases and 88 controls were enrolled. MTHFR and PPARγ2 gene polymorphisms in the cases and controls were evaluated by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). The MTHFR gene CC, CT, TT genotype frequencies obtained were 40%, 43%, and 17% in type 2 diabetes mellitus cases and 56%, 29%, and 15% in healthy controls respectively. The OR for CC was 0.54 (95%CI 0.29-0.98, P=0.041, χ(2)=4.18, power=0.98), for CT 1.76 (95%CI 0.94-3.30, P=0.07, χ(2)=3.2, power=0.96), and for TT 1.2 (95%CI 0.53-2.70, P=0.66, χ(2)=0.198, power=0.76). The PPARγ2 gene GG CG, CC genotype frequencies obtained were 28%, 41%, and 31% in cases and 40%, 39%, and 21% in healthy controls respectively. OR for GG was 0.58 (95%CI 0.30-1.09, P=0.08, χ(2)=2.9, power=0.96), for CG 1.12 (95%CI 0.61-2.05, P=0.71, χ(2)=0.137, power=0.778), and for CC 1.63 (95%CI 0.82-3.23, P=0.156, χ(2)=2.01, power=0.92). It might be recommended that MTHFR CC genotype seems to be a good marker for the early identification of population at risk of type 2 diabetes mellitus. While we have detected significant difference in allelic frequencies of PPARγ2 C (Proline) and G (Alanine), but at genotypic level significant difference was not detected in this case

  12. Algoritmos genéticos

    José Jesús Martínez Páez

    1998-10-01

    Full Text Available Esta técnica se basa en el concepto de evolución a través de selección de los mejores individuos, y de los operadores genéticos de selección, reproducción y mutación. Se trata entonces, de definir un espacio de soluciones para el problema que se quiere solucionar, en una cadena de bits. A esto se le conoce como la codificación del cromosoma, donde cada bit, denominado gen  tiene cierto significado especial. Inicialmente el algoritmo genera al azar muchas de estas cadenas o seres, es decir, una población, que luego confronta can un ambiente, que es el problema solucionar o función que se quiere optimizar. De esta confrontación  o evaluación a que se somete cada ser. Se obtiene información sobre cómo se comporto cada uno. A través de métodos aleatorios, pero con probabilidad de selección proporcional a su comportamiento, es decir, a mejor comportamiento mayor probabilidad, se selecciona una nueva población de seres supuestamente mejores que la generación anterior.

  13. Association between ACE (rs4646994), FABP2 (rs1799883), MTHFR (rs1801133), FTO (rs9939609) Genes Polymorphism and Type 2 Diabetes with Dyslipidemia.

    Raza, Syed Tasleem; Abbas, Shania; Siddiqi, Zeba; Mahdi, Farzana

    2017-01-01

    Diabetic dyslipidemia is one of the leading causes of coronary artery disease (CAD) death. Genetic and environmental factors play an important role in the development of type 2 diabetes mellitus (T2DM) and dyslipidemia. The present study was aimed to investigate the association of ACE (rs4646994), FABP2 (rs1799883), MTHFR (rs1801133) and FTO (rs9939609) genes polymorphism in T2DM with dyslipidemia. Totally, 559 subjects including 221 T2DM cases with dyslipidemia, 158 T2DM without dyslipidemia and 180 controls were enrolled. ACE genes polymorphism was evaluated by polymerase chain reaction (PCR), while MTHFR , FABP2 , FTO genes polymorphisms were evaluated by PCR and restriction fragment length polymorphism (RFLP). Significant association of ACE and MTHFR genes polymorphisms were found in both group of cases [T2DM with dyslipidemia (Pgenes polymorphisms were significantly associated with T2DM without dyslipidemia (P=0.038, and P= 0.019, respectively). This study concludes that ACE , FABP2 , FTO and MTHFR genes are associated with T2DM. Additionally, it also seems that ACE and MTHFR genes might be further associated with the development of dyslipidemia in T2DM cases.

  14. Individual and combined effects of ApoE and MTHFR 677C/T polymorphisms on cognitive performance in Spanish adolescents: the AVENA study.

    Ruiz, Jonatan R; Castillo, Ruth; Labayen, Idoia; Moreno, Luis A; Fuentes, Miguel García; Lamuño, Domingo González; Alvarez Granda, Jesus L; Lucia, Alejandro; Ortega, Francisco B

    2010-06-01

    To examine the individual and combined associations of ApoE and MTHFR 677C/T polymorphisms with cognitive performance in adolescents. The study comprised 412 Spanish adolescents (13 to 18.5 years of age). Cognitive performance (verbal, numeric and reasoning abilities, and an overall score) was measured by the Spanish-version of the SRA-Test of Educational-Ability. We observed no differences in the cognitive performance study variables in adolescents carrying or not carrying the ApoE epsilon4 variant. Adolescents without the MTHFR 677TT genotype had significantly better cognitive performance than their TT peers. The analysis of the combined effect of these polymorphisms revealed that those individuals carrying both the ApoE epsilon4 variant and the MTHFR 677TT genotype had significantly worse cognitive performance than their peers with other genotype combinations. These findings were independent of sex, age pubertal status, socioeconomic status, physical activity, and skipping breakfast. The results of the present study suggest that the ApoE epsilon4 alone is not associated with cognitive performance in adolescents. Individuals with the MTHFR 677TT genotype had slightly impaired cognitive performance, whereas we observed a combined effect of both the ApoE epsilon4 variant and the MTHFR 677TT genotype on cognitive performance. More research is needed in larger population samples to corroborate our findings. Copyright 2010 Mosby, Inc. All rights reserved.

  15. Fatores relacionados à presença de recém-nascidos grandes para a idade gestacional em gestantes com diabetes mellitus gestacional Factors related to the presence of large for gestational age newborns in pregnant women with gestational diabetes mellitus

    Jean Carl Silva

    2009-01-01

    Full Text Available OBJETIVO: avaliar os fatores relacionados à presença de recém-nascidos grandes para a idade gestacional nas gestantes com diabetes mellitus gestacional. MÉTODOS: no período de janeiro de 2004 a julho de 2006, foram selecionadas, retrospectivamente, 157 gestantes que apresentavam diabete mellitus gestacional e estavam em acompanhamento. Esse grupo foi dividido em dois subgrupos: um com recém-nascidos de peso adequado para a idade gestacional (n=136 e outro com recém-nascidos grandes para a idade gestacional (n=21. Foram comparadas as características maternas nos dois grupos. Para a análise da hipótese de igualdade entre a média dos dois grupos, utilizou-se o teste t de Student. E para que se testasse a homogeneidade dos grupos em relação às proporções, foi utilizado o teste do χ2. RESULTADOS: os grupos não apresentaram diferença significativa quanto à idade materna, índice de massa corporal, ganho de peso durante a gestação, número de gestações anteriores, glicemia de jejum no teste oral de tolerância à glicose após a ingestão de 75 g (TOTG 75 g, idade gestacional no momento do parto, valores glicêmicos durante o tratamento e o tipo de tratamento utilizado (p>0,05. No grupo com recém-nascidos grandes para a idade gestacional, observou-se valor de glicemia de duas horas no TOTG 75 g maior (p=0,02, a idade gestacional de início de tratamento maior (p=0,02, e um número menor de consultas realizadas no serviço (pPURPOSE: to evaluate factors related to the presence of neonatal macrosomia in pregnant women with gestational diabetes mellitus. METHODS: 157 pregnant women presenting gestational diabetes mellitus in follow-up were retrospectively selected from January 2004 to July 2006. This group has been divided into two subgroups: one with newborns with weight in accordance with the gestational age (n=136 and another with macrosomic newborns (n=21. Maternal characteristics have been compared between the groups. The t

  16. Recién nacidos pequeños para la edad gestacional: sensibilidad del diagnóstico y su resultado

    Díaz, Lucía; Cóppola, Francisco; Vargas, Diego; Quiñones, Patricia

    2014-01-01

    OBJETIVODeterminar la sensibilidad en el diagnóstico clínico-ecográfico de pequeños para la edad gestacional (PEG) y valorar el impacto del diagnóstico prenatal en la tasa de cesáreas y los resultados neonatales (Apgar y gasometría).MATERIAL Y MÉTODOEstudio descriptivo-analítico retrospectivo.RESULTADOSDe 4548 nacidos vivos, se detectó un total de 379 PEG; 99 casos (26%) tenían diagnóstico previo de RCIU. Los resultados neonatales de depresión, acidosis y Apgar bajo no fueron diferentes en el...

  17. Situación actual de la diabetes gestacional en el Área I de la Región de Murcia

    Lifante Pedrola, Zoila María

    2015-01-01

    INTRODUCCIÓN: La diabetes mellitus gestacional (DMG) es una alteración de la glucosa que se manifiesta durante el embarazo. El impacto de la DMG afecta tanto a la salud del feto como de la madre. Las mujeres con DMG tienen un riesgo siete veces mayor de desarrollar diabetes mellitus tipo 2, y lo hacen a una edad temprana, lo que incrementa su riesgo de desarrollar complicaciones asociadas a esta enfermedad. Estas mujeres son idóneas como objeto de intervenciones en cuanto a estilo de vida par...

  18. Influencia de la diabetes gestacional en el desarrollo psicomotor y la regulación de los ritmos circadianos durante el primer año de vida

    Zornoza Moreno, Matilde

    2014-01-01

    OBJETIVOS El objetivo general se centró en conocer si el neurodesarrollo y la regulación de los ritmos circadianos de los niños pueden estar influidos por la presencia de diabetes gestacional materna (GDM). Se plantearon como objetivos secundarios: Evaluar si los sensores utilizados en adultos para el registro de temperatura periférica y actividad son útiles en la medición de los estos mismos ritmos circadianos durante el primer año de vida y determinar si existe relación entre la madurac...

  19. Hipoglicemiantes orales para el tratamiento de la diabetes mellitus gestacional: Revisión sistemática de la literatura

    Pavlovic B,Milenko; Carvajal C,Jorge

    2013-01-01

    Antecedentes: La diabetes mellitus gestacional (DMG) se asocia a mayor riesgo materno y perinatal. El manejo habitual de ésta patología es la dieta, el ejercicio y la insulina. Los hipoglicemiantes orales (HGO) son una terapia emergente para el tratamiento de la DMG. Objetivos: Realizar una revisión sistemática de toda la evidencia tipo I disponible acerca del uso de HGO para tratamiento de DMG y realizar un metaanálisis de los resultados maternos y perinatales significativos. Resultados: Die...

  20. Genève Reconnaissante

    2001-01-01

    Robert Cailliau (centre), with Geneva's Mayor Alain Vaissade (left) and Jean Erhardt, Secretary General of the Administrative Council of Geneva (right). Geneva recognised the contribution of two CERN people to the reputation of the city last Tuesday when Mayor Alain Vaissade presented the Genève Reconaissante Medal to Tim Berners-Lee and Robert Cailliau. Berners-Lee, who was not able to be present in person, invented the World Wide Web at CERN just over a decade ago, while Cailliau was his first collaborator. Quoting Cailliau, Vaissade said that whilst there is no doubt that something like the Web would have appeared sooner or later, the fact that it happened at CERN, in Geneva, was no accident. Both the Laboratory and the city are places where people from around the world meet and work in harmony.

  1. The maternal homocysteine pathway is influenced by riboflavin intake and MTHFR polymorphisms without affecting the risk of orofacial clefts in the offspring.

    Vujkovic, M; Steegers, E A; van Meurs, J; Yazdanpanah, N; van Rooij, I A; Uitterlinden, A G; Steegers-Theunissen, R P

    2010-03-01

    Riboflavin is a cofactor for the 5,10-methylenetetrahydrofolate reductase (MTHFR) enzyme involved in the homocysteine pathway. The aim of this study was to investigate the effects of maternal riboflavin intake and two MTHFR polymorphisms (677C>T; Ala222Val and 1298A>C; Glu429Ala substitutions) on the biomarkers of the homocysteine pathway, and investigate the risk of having offspring with an orofacial cleft (OFC). In a case-control study design, dietary riboflavin intake and the MTHFR 677C>T and 1298A>C polymorphisms were evaluated in 123 OFC and 108 control mothers by using food frequency questionnaires and blood samples. Homocysteine (tHcy), folate and vitamin B12 concentrations in blood were analyzed in 70 cases and 68 controls. Linear and logistic regression analyses were applied. At 14 months postpartum riboflavin intake and MTHFR 677C>T and 1298A>C genotypes were not significantly different between cases and controls. The 677TT genotype showed lower folate concentrations compared to C-allele carriers with a mean difference of 2.8 nmol/l in serum and 174 nmol/l in red blood cell (both P's=0.01). Every mg per day increase of dietary riboflavin intake was positively associated with increase in vitamin B12 concentration by 52.1% (Priboflavin-adjusted MTHFR 677TT and 1298CC genotypes showed a trend toward an increasing risk for OFC, adjusted odds ratio 1.7 (confidence interval (95% CI), 0.7-4.5) and 1.6 (95% CI, 0.7-4.2), respectively. Maternal riboflavin intake is significantly associated with biomarkers of the homocysteine pathway, with the strongest effects in MTHFR 677TT homozygotes. The maternal risk of having OFC offspring, however, is not associated with dietary riboflavin intake.

  2. High dietary folate in pregnant mice leads to pseudo-MTHFR deficiency and altered methyl metabolism, with embryonic growth delay and short-term memory impairment in offspring.

    Bahous, Renata H; Jadavji, Nafisa M; Deng, Liyuan; Cosín-Tomás, Marta; Lu, Jessica; Malysheva, Olga; Leung, Kit-Yi; Ho, Ming-Kai; Pallàs, Mercè; Kaliman, Perla; Greene, Nicholas D E; Bedell, Barry J; Caudill, Marie A; Rozen, Rima

    2017-03-01

    Methylenetetrahydrofolate reductase (MTHFR) generates methyltetrahydrofolate for methylation reactions. Severe MTHFR deficiency results in homocystinuria and neurologic impairment. Mild MTHFR deficiency (677C > T polymorphism) increases risk for complex traits, including neuropsychiatric disorders. Although low dietary folate impacts brain development, recent concerns have focused on high folate intake following food fortification and increased vitamin use. Our goal was to determine whether high dietary folate during pregnancy affects brain development in murine offspring. Female mice were placed on control diet (CD) or folic acid-supplemented diet (FASD) throughout mating, pregnancy and lactation. Three-week-old male pups were evaluated for motor and cognitive function. Tissues from E17.5 embryos, pups and dams were collected for choline/methyl metabolite measurements, immunoblotting or gene expression of relevant enzymes. Brains were examined for morphology of hippocampus and cortex. Pups of FASD mothers displayed short-term memory impairment, decreased hippocampal size and decreased thickness of the dentate gyrus. MTHFR protein levels were reduced in FASD pup livers, with lower concentrations of phosphocholine and glycerophosphocholine in liver and hippocampus, respectively. FASD pup brains showed evidence of altered acetylcholine availability and Dnmt3a mRNA was reduced in cortex and hippocampus. E17.5 embryos and placentas from FASD dams were smaller. MTHFR protein and mRNA were reduced in embryonic liver, with lower concentrations of choline, betaine and phosphocholine. Embryonic brain displayed altered development of cortical layers. In summary, high folate intake during pregnancy leads to pseudo-MTHFR deficiency, disturbed choline/methyl metabolism, embryonic growth delay and memory impairment in offspring. These findings highlight the unintended negative consequences of supplemental folic acid. © The Author 2017. Published by Oxford University Press.

  3. La preeclampsia y la hipertensión gestacional como factores de riesgo para el desarrollo del estado de prehipertensión y de hipertensión arterial a las doce semanas posparto. Un estudio descriptivo prospectivo

    Bernardo Agudelo Jaramillo; Joaquín Guillermo Gómez Dávila; Samuel Eduardo Gélvez Téllez; Elkin Darío Cuartas Arias

    2008-01-01

    OBJETIVO: explorar si la preeclampsia y la hipertensión gestacional son factores de riesgo para los estados prehipertensivo e hipertensivo a las doce semanas posparto. DISEÑO: estudio descriptivo prospectivo de pacientes del área metropolitana del valle de Aburrá, hospitalizadas por preeclampsia o hipertensión gestacional, a quienes se les atendió el parto en el Hospital Universitario San Vicente de Paúl de Medellín, Colombia, y se les hizo seguimiento hasta las doce semanas posparto. MÉTODO:...

  4. Prevalencia de los genotipos fimA II y fimA IV de Porphyromonas gingivalis en un grupo de mujeres mexicanas con diabetes gestacional en la región centro de México

    García-Reyna,Roberto Arturo; Terrones Saldivar,María del Carmen; Malacara-Rosas,Angélica María; Zaragoza-Velásquez,Nicolás; Rosas-Cabral,Alejandro; Gutiérrez Campos,Rafael

    2014-01-01

    La diabetes gestacional (DG) es una de las complicaciones médicas que más frecuentemente afectan a las mujeres embarazadas; algunos autores reportan una prevalencia entre el 9,7 y el 13,9%. La DG puede ser causa de efectos adversos como: nacimiento pretérmino, macrosomia, nacimiento por cesárea, hiperbilirrubinemia, hipertensión gestacional, así como la predisposición de desarrollar posteriormente diabetes mellitus tipo 2 y síndrome metabólico. La literatura señala la asociación entre los mic...

  5. Acompanhamento sistematizado da hiperbilirrubinemia em recém-nascidos com 35 a 37 semanas de idade gestacional

    Elizabete Punaro

    2011-08-01

    Full Text Available OBJETIVOS: Identificar os resultados do acompanhamento da bilirrubinemia na primeira semana de vida em uma coorte de recém-nascidos (RNs de 35(0/7 a 37(6/7 semanas de idade gestacional e estabelecer fatores de risco para reinternação para fototerapia pós-alta hospitalar (bilirrubinemia total > 18 mg/dL. MÉTODOS: Estudo de coorte retrospectivo em hospital público universitário. Os recém-nascidos tiveram acompanhamento da bilirrubina total plasmática ou transcutânea pré- e pós-alta da enfermaria de alojamento conjunto para avaliação da necessidade de fototerapia. Foi empregada uma abordagem sistematizada, utilizando-se os percentis de risco de uma curva de referência. RESULTADOS: Foram estudados 392 RNs. Uma consulta ambulatorial foi necessária em 61,7% dos RNs. Tiveram valores máximos de bilirrubinemia total > 20 mg/dL 34 RNs (8,7%, e três RNs (0,8% apresentaram bilirrubinemia total entre 25-30 mg/dL. Fototerapia foi indicada após alta em 74 RNs (18,9%. Os fatores de risco foram a perda de peso do nascimento até o primeiro retorno e os percentis à alta acima do P40. A bilirrubinemia total à alta acima do P95 foi associada ao maior risco de reinternação [RR = 49,5 (6,6-370,3]. A perda de peso até o primeiro retorno foi o único preditor clínico independente [RR = 1,16 (1,04-1,17]. CONCLUSÃO: A abordagem sistematizada da bilirrubinemia na 1ª semana foi efetiva na prevenção de hiperbilirrubinemias perigosas. O suporte à amamentação e a alta hospitalar após a estabilização da perda de peso podem ser medidas preventivas da reinternação por hiperbilirrubinemia

  6. Changes in lifestyle and total homocysteine in relation to MTHFR (C677T) genotype: the Inter99 study

    Husemoen, LL; Thomsen, TF; Fenger, M

    2006-01-01

    BACKGROUND: Reduction in total homocysteine (tHcy) may be clinically relevant in the prevention of cardiovascular disease (CVD) in the general population. OBJECTIVE: To examine the effects of changes in various lifestyle habits and lifestyle related biological CVD risk markers on changes in t...... intervention and re-examination after one year. RESULTS: None of the studied lifestyle changes-- smoking, physical activity, dietary habits, and coffee, tea, and alcohol consumption-- was significantly associated with changes in tHcy, either overall, or in any of the MTHFR genotype subgroups. In addition...

  7. Association of ADRA2A and MTHFR gene polymorphisms with weight loss following antipsychotic switching to aripiprazole or ziprasidone.

    Roffeei, Siti Norsyuhada; Reynolds, Gavin P; Zainal, Nor Zuraida; Said, Mas Ayu; Hatim, Ahmad; Aida, Syarinaz Ahmad; Mohamed, Zahurin

    2014-01-01

    Various genetic polymorphisms have been reported to be associated with antipsychotic-induced weight gain. In this study, we aimed to determine whether risk polymorphisms in 12 candidate genes are associated with reduction in body mass index (BMI) of patients following switching of antipsychotics to aripiprazole or ziprasidone. We recruited 115 schizophrenia patients with metabolic abnormalities and who have been on at least 1 year treatment with other antipsychotics; they were then switched to either aripiprazole or ziprasidone. They were genotyped, and their BMI monitored for 6 months. Significant associations with reduction in BMI at 6 months following switching were found in two of these genes: with rs1800544 of the ADRA2A gene (CC + CG [-0.32 ± 1.41 kg/m²] vs GG [-1.04 ± 1.63 kg/m²], p = 0.013) and with rs1801131 of the MTHFR gene (AA [-0.36 ± 1.53] vs AC + CC [-1.07 ± 1.53], p = 0.015). The study data indicated that carriage of the ADRA2A rs1800544 GG genotype and the MTHFR rs1801131 C allele are associated with BMI reduction in this population following switching of antipsychotics to aripiprazole and ziprasidone. Copyright © 2013 John Wiley & Sons, Ltd.

  8. The Genetic Diversity and Structure of Linkage Disequilibrium of the MTHFR Gene in Populations of Northern Eurasia.

    Trifonova, E A; Eremina, E R; Urnov, F D; Stepanov, V A

    2012-01-01

    The structure of the haplotypes and linkage disequilibrium (LD) of the methylenetetrahydrofolate reductase gene (MTHFR) in 9 population groups from Northern Eurasia and populations of the international HapMap project was investigated in the present study. The data suggest that the architecture of LD in the human genome is largely determined by the evolutionary history of populations; however, the results of phylogenetic and haplotype analyses seems to suggest that in fact there may be a common "old" mechanism for the formation of certain patterns of LD. Variability in the structure of LD and the level of diversity of MTHFRhaplotypes cause a certain set of tagSNPs with an established prognostic significance for each population. In our opinion, the results obtained in the present study are of considerable interest for understanding multiple genetic phenomena: namely, the association of interpopulation differences in the patterns of LD with structures possessing a genetic susceptibility to complex diseases, and the functional significance of the pleiotropicMTHFR gene effect. Summarizing the results of this study, a conclusion can be made that the genetic variability analysis with emphasis on the structure of LD in human populations is a powerful tool that can make a significant contribution to such areas of biomedical science as human evolutionary biology, functional genomics, genetics of complex diseases, and pharmacogenomics.

  9. Folate Intake, MTHFR Polymorphisms, and the Risk of Colorectal Cancer: A Systematic Review and Meta-Analysis

    Kennedy, D. A.; Stern, S. J.; Matok, I.; Moretti, M. E.; Sarkar, M.; Webber, T. A.; Koren, G.; Kennedy, D. A.; Koren, G.; Stern, S. J.; Koren, G.

    2012-01-01

    Background. The objective was to determine whether relationships exist between the methylene-tetrahydrofolate reductase (Mthf) polymorphisms and risk of colorectal cancer (CRC) and examine whether the risk is modified by level of folate intake. Methods. MEDLINE, Embase, and SCOPUS were searched to May 2012 using the terms “folic acid,” “folate,” “colorectal cancer,” “methylenetetrahydrofolate reductase,” “MTHFR.” Observational studies were included which (1) assessed the risk of CRC for each polymorphism and/or (2) had defined levels of folate intake for each polymorphism and assessed the risk of CRC. Results. From 910 references, 67 studies met our criteria; hand searching yielded 10 studies. The summary risk estimate comparing the 677CT versus CC genotype was 1.02 (95% CI 0.95-1.10) and for 677TT versus CC was 0.88 (95% CI 0.80-0.96) both with heterogeneity. The summary risk estimates for A1298C polymorphisms suggested no reduced risk. The summary risk estimate for high versus low total folate for the 677CC genotype was 0.70 (95% CI 0.56-0.89) and the 677TT genotype 0.63 (95% CI 0.41-0.97). Conclusion. These results suggest that the 677TT genotype is associated with a reduced risk of developing CRC, under conditions of high total folate intake, and this associated risk remains reduced for both MTHFR 677 CC and TT genotypes.

  10. The effect of the MTHFR C677T mutation on athletic performance and the homocysteine level of soccer players and sedentary individuals

    Dinç Nurten

    2016-06-01

    Full Text Available This study investigated athletic performance and homocysteine (Hcy levels in relation to the methylenetetrahydrofolate reductase (MTHFR C677T mutation and explored the relationship between this mutation and other cardiac risk factors in soccer players and sedentary individuals. The study groups consisted of randomly selected soccer players (n=48 from the Turkish Super and Major League and sedentary male students (n=48 aged 18-27. Anthropometric variables, aerobic and anaerobic thresholds were measured, furthermore, biochemical assays were performed. The level of HDL cholesterol, LDL cholesterol, triglyceride, Hcy, folate, vitamin B12, hemogram and MTHFR C677T was investigated. The results showed that there was a statistical difference between the two groups in terms of body mass, body fat, the BMI, the aerobic threshold heart rate (ATHR, aerobic threshold velocity (ATVL and anaerobic threshold velocity (ANTVL. The soccer players were found to have lower levels of triglyceride, total cholesterol and LDL cholesterol, and higher levels of folate than the sedentary participants. The analysis of the alleles of the MTHFR C677T polymorphism showed that the participants that carried TT genotypes had a lower level of vitamin B12 and folate, and a higher level of Hcy than the participants carrying CC and CT genotypes. In conclusion, the baseline homocysteine and cardiovascular fitness levels of healthy young males with the TT genotypes of the MTHFR C677T genotype were found to strongly correlate with their levels of Hcy.

  11. Prevalence of MTHFR C677T and MS A2756G polymorphisms in major depressive disorder, and their impact on response to fluoxetine treatment

    To examine the prevalence of the C677T polymorphism of the methylene tetrahydrofolate reductase (MTHFR) gene and the A2756G polymorphism of methionine synthase (MS), and their impact on antidepressant response. We screened 224 subjects (52% female, mean age 39 +/- 11 years) with SCID-diagnosed major...

  12. Association of homocysteine and methylene tetrahydrofolate reductase (MTHFR C677T) gene polymorphism with coronary artery disease (CAD) in the population of North India

    2010-01-01

    The implications of the methylene tetrahydrofolate reductase (MTHFR) gene and the level of homocysteine in the pathogenesis of coronary artery disease (CAD) have been extensively studied in various ethnic groups. Our aim was to discover the association of MTHFR (C677T) polymorphism and homocysteine level with CAD in north Indian subjects. The study group consisted of 329 angiographically proven CAD patients, and 331 age and sex matched healthy individuals as controls. MTHFR (C677T) gene polymorphism was detected based on the polymerase chain reaction and restriction digestion with HinfI. Total homocysteine plasma concentration was measured using immunoassay. T allele frequency was found to be significantly higher in patients than in the control group. We found significantly elevated levels of mean homocysteine in the patient group when compared to the control group (p = 0.00). Traditional risk factors such as diabetes, hypertension, smoking habits, a positive family history and lipid profiles (triglyceride, total cholesterol, HDL-cholesterol, LDL-cholesterol, VLDL-cholesterol), were found significantly associated through univariate analysis. Furthermore, multivariable logistics regression analysis revealed that CAD is significantly and variably associated with diabetes, hypertension, smoking, triglycerides and HDL-cholesterol. Our findings showed that MTHFR C677T polymorphism and homocysteine levels were associated with coronary artery disease in the selected population. PMID:21637473

  13. Association of neural tube defects in children of mothers with MTHFR 677TT genotype and abnormal carbohydrate metabolism risk: a case-control study.

    Cadenas-Benitez, N M; Yanes-Sosa, F; Gonzalez-Meneses, A; Cerrillos, L; Acosta, D; Praena-Fernandez, J M; Neth, O; Gomez de Terreros, I; Ybot-González, P

    2014-03-26

    Abnormalities in maternal folate and carbohydrate metabolism have both been shown to induce neural tube defects (NTD) in humans and animal models. However, the relationship between these two factors in the development of NTDs remains unclear. Data from mothers of children with spina bifida seen at the Unidad de Espina Bífida del Hospital Infantil Virgen del Rocío (case group) were compared to mothers of healthy children with no NTD (control group) who were randomly selected from patients seen at the outpatient ward in the same hospital. There were 25 individuals in the case group and 41 in the control group. Analysis of genotypes for the methylenetetrahydrofolate reductase (MTHFR) 677CT polymorphism in women with or without risk factors for abnormal carbohydrate metabolism revealed that mothers who were homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism were more likely to have offspring with spina bifida and high levels of homocysteine, compared to the control group. The increased incidence of NTDs in mothers homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism stresses the need for careful metabolic screening in pregnant women, and, if necessary, determination of the MTHFR 677CT genotype in those mothers at risk of developing abnormal carbohydrate metabolism.

  14. Dietary intake of folate and riboflavin, MTHFR C677T Genotype, and colorectal adenoma risk: a Dutch case-control study

    Donk, van den M.; Buijsse, G.M.; Berg, van den S.W.; Ocké, M.C.; Harryvan, J.L.; Nagengast, F.M.; Kok, F.J.; Kampman, E.

    2005-01-01

    We investigated the associations between dietary intake of folate and vitamin B2, MTHFR C677T genotype, and colorectal adenomas in a Dutch case-control study. Data of cases with at least one histologically confirmed colorectal adenoma (n = 768) and controls with no history of any type of colorectal

  15. Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers

    Jakubowska, A; Rozkrut, D; Antoniou, A

    2012-01-01

    The variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. Two genes of special interest are prohibitin (PHB) and methylene-tetrahydrofolate reductase (MTHFR), both of which are important either directly or...

  16. Association between methylenetetrahydrofolate reductase (MTHFR C677T gene polymorphism and risk of ischemic stroke in North Indian population: A hospital based case–control study

    Amit Kumar

    2016-10-01

    Conclusion: Findings of the present study suggest that MTHFR C677T gene polymorphism might be a risk factor of IS mainly for SVD subtypes of IS in North Indian population. Further large prospective studies are required to confirm these findings.

  17. Nutritional Genetics: The Case of Alcohol and the MTHFR C677T Polymorphism in relation to homocysteine in a Black South African Population

    Nienaber-Rousseau, C.; Pisa, P.T.; Venster, C.S.; Ellis, S.M.; Kruger, A.; Moss, S.; Boonstra, A.; Towers, G.W.

    2013-01-01

    Background/Aims: It is unknown whether the effect of alcohol consumption on homocysteine (Hcy) is modulated by the methylenetetrahydrofolate reductase (MTHFR) C677T. We explored this hypothesized effect by analyzing cross-sectional data of 1,827 black South Africans. Methods: Total Hcy

  18. The relationship between the C677T polymorphism of the MTHFR gene and serum levels of luteinizing hormone in males with erectile dysfunction

    Šerý, Omar; Šrámková, T.; Klempová, J.; Šťastný, F.; Lochman, J.; Khan, N. A.

    2012-01-01

    Roč. 33, č. 5 (2012), s. 101-106 ISSN 0172-780X Grant - others:GA ČR(CZ) GP309/09/P361 Program:GP Institutional support: RVO:67985904 Keywords : MTHFR * C677T polymorphism * follicle-stimulating hormone Subject RIV: FB - Endocrinology, Diabetology, Metabolism, Nutrition Impact factor: 0.932, year: 2012

  19. Homocysteine and the C677T Gene Polymorphism of Its Key Metabolic Enzyme MTHFR Are Risk Factors of Early Renal Damage in Hypertension in a Chinese Han Population.

    Yun, Lin; Xu, Rui; Li, Guohua; Yao, Yucai; Li, Jiamin; Cong, Dehong; Xu, Xingshun; Zhang, Lihua

    2015-12-01

    The combined hyperhomocysteinemia condition is a feature of the Chinese hypertensive population. This study used the case-control method to investigate the association between plasma homocysteine and the C677T gene polymorphism of its key metabolic enzyme, 5, 10-methylenetetrahydrofolate reductase (MTHFR), and early renal damage in a hypertensive Chinese Han population.A total of 379 adult essential hypertensive patients were selected as the study subjects. The personal information, clinical indicators, and the C677T gene polymorphism of MTHFR were texted. This study used the urine microalbumin/urine creatinine ratio (UACR) as a grouping basis: the hypertension without renal damage group (NRD group) and the hypertension combined with early renal damage group (ERD group).Early renal damage in the Chinese hypertensive population was associated with body weight, systolic pressure, diastolic pressure, urea nitrogen, serum creatinine, cystatin C, uric acid, aldosterone, and glomerular filtration rate. The homocysteine level and the UACR in the TT genotype group were higher than those in the CC genotype group. The binary logistic regression analysis results showed that after sex and age were adjusted, the MTHFR C677T gene polymorphism was correlated with early renal damage in hypertension in both the recessive model and in the additive model.Plasma homocysteine and the C677T gene polymorphism of its key metabolic enzyme MTHFR might be independent risk factors of early renal damage in the hypertensive Chinese Han population.

  20. MTHFR C677T polymorphism, homocysteine and B-vitamins status in a sample of Chinese and Malay subjects in Universiti Putra Malaysia.

    Choo, S C; Loh, S P; Khor, G L; Sabariah, M N; Rozita, R

    2011-08-01

    Methylenetetrahydrofolate reductase (MTHFR) C677T is involved in folate and homocysteine metabolism. Disruption in the activity of this enzyme will alter their levels in the body. This study assessed MTHFR C677T polymorphism and its relationship with serum homocysteine and B-vitamins levels in a sample of Chinese and Malays subjects in UPM, Serdang. One hundred subjects were randomly selected from among the university population. Folate, vitamin B12, B6, and homocysteine levels were determined using MBA, ECLIA, and HPLC, respectively. PCR coupled with HinfI digestion was used for detection of MTHFR C677T polymorphism. The frequency of T allele was higher in the Chinese subjects (0.40) compared to the Malay (0.14). Folate, vitamin B12 and B6 levels were highest in the wild genotype in both ethnic groups. Subjects with heterozygous and homozygous genotype showed the highest homocysteine levels. The serum folate and homocysteine were mainly affected by homozygous genotype. MTHFR C677T polymorphism plays an important role in influencing the folate and homocysteine metabolism.

  1. Childhood Abuse Experiences and the COMT and MTHFR Genetic Variants Associated With Male Sexual Orientation in the Han Chinese Populations: A Case-Control Study.

    Qin, Jia-Bi; Zhao, Guang-Lu; Wang, Feng; Cai, Yu-Mao; Lan, Li-Na; Yang, Lin; Feng, Tie-Jian

    2018-01-01

    Although it is widely acknowledged that genetic and environmental factors are involved in the development of male homosexuality, the causes are not fully understood. To explore the association and interaction of childhood abuse experiences and genetic variants of the catechol-O-methyltransferase (COMT) and methylenetetrahydrofolate reductase (MTHFR) genes with the development of male homosexuality. A case-control study of 537 exclusively homosexual men and 583 exclusively heterosexual men was conducted, with data collected from March 2013 to August 2015. Data were analyzed using χ 2 tests and logistic regression models. Sociodemographic characteristics, childhood abuse experiences, and polymorphisms of COMT at rs4680, rs4818, and rs6267 and MTHFR at rs1801133. More frequent occurrence of physical (adjusted odds ratio [aOR] = 1.78), emotional (aOR = 2.07), and sexual (aOR = 2.53) abuse during childhood was significantly associated with the development of male homosexuality. The polymorphisms of MTHFR at rs1801133 and COMT at rs4818 also were significantly associated with the development of male homosexuality in the homozygote comparisons (T/T vs C/C at rs1801133, aOR = 1.68; G/G vs C/C at rs4818, aOR = 1.75). In addition, significant interaction effects between childhood abuse experiences and the COMT and MTHFR genetic variants on the development of male homosexuality were found. This is the first time that an association of childhood abuse, COMT and MTHFR genetic variants, and their interactions with development of male homosexuality was exhaustively explored, which could help provide new insight into the etiology of male homosexuality. Because homosexual men are a relatively obscure population, it was impossible to select the study participants by random sampling, which could lead to selection bias. In addition, because this was a case-control study, recall bias was inevitable, and we could not verify causality. Childhood abuse and the COMT and MTHFR genetic

  2. Unleashing Gen Y: Marketing Mars to Millennials

    Leahy, Bart D.; Hidalgo, Loretta; Kloberdanz, Cassie

    2007-01-01

    Space advocates need to engage Generation Y (born 1977-1999).This outreach is necessary to recruit the next generation of scientists and engineers to explore Mars. Space advocates in the non-profit, private, and government sectors need to use a combination of technical communication, marketing, and politics, to develop messages that resonate with Gen Y. Until now, space messages have been generated by and for college-educated white males; Gen Y is much more diverse, including as much as one third minorities. Young women, too, need to be reached. My research has shown that messages emphasizing technology, fun, humor, and opportunity are the best means of reaching the Gen Y audience of 60 million (US population is 300 million). The important things space advocates must avoid are talking down to this generation, making false promises, or expecting them to "wait their turn" before they can participate. This is the MTV generation! We need to find ways of engaging Gen Y now to build a future where human beings can live and work on the planet Mars. In addition to the messages themselves, advocates need to keep up with Gen Y' s social networking and use of iPods, cell phones, and the Internet. NASA and space advocacy groups can use these tools for "viral marketing," where young people share targeted space-related information via cell phones or the Internet because they like it. Overall, Gen Y is a socially dynamic and media-savvy group; advocates' space messages need to be sincere, creative, and placed in locations where Gen Y lives. Mars messages must be memorable!

  3. [677T mutation of the MTHFR gene in adenomas and colorectal cancer in a population sample from the Northeastern Mexico. Preliminary results].

    Delgado-Enciso, I; Martínez-Garza, S G; Rojas-Martínez, A; Ortiz-López, R; Bosques-Padilla, F; Calderón-Garcidueñas, A L; Zárate-Gómez, M; Barrera-Saldaña, H A

    2001-01-01

    Adequate intake of folates has been associated to low prevalence of colon cancer. Methylenetetrahydrofolate reductase enzyme (MTHFR) plays an important role in folate metabolism. The role of the 677 mutation at the MTHFR gene in the risk for colorectal cancer remains controversial. A recent report established that this mutation has a high prevalence in the healthy Mexican population. To analyze the prevalence of 677T MTHFR mutation in patients with colorectal cancer and controls without chronic gastrointestinal disorders. Seventy-four colorectal cancer, 32 adenomas and 110 normal samples were analyzed. Patients and controls were matched for sex and age. For each sample, DNA isolation, PCR, and mutation detection by restriction enzyme digestion were performed to determine the allele at the 677 position in the MTHFR gene. Genotype 677C/677C was found in 18.7, 20.3, and 30.9% in adenomas, cancer lesions and controls, respectively. Frequencies of the 677C/677T genotype were 59.4, 56.7, and 47.3%, in adenomas, cancer lesions, and controls, respectively. Genotype 677T/677T was found in 21.9, 23.0, and 21.8% in adenomas, cancer lesions, and controls, respectively. The odds ratio between genotypes carrying the mutation (T/T and C/T) and normal genotype (CC) was 1.81 (IC 95% 0.97-3.3), chi 2 = 3.5, p = 0.06. Our results showed that persons who carry the 677T mutation at MTHFR locus have a tendency for an increased risk for colorectal cancer. This study supports the basic concept that low levels of folic acid contribute with the colorectal cancer pathogenesis. Our lack of statistic significance may be due to reduced sample size.

  4. Plasma Homocysteine, Serum Folic Acid, Serum Vitamin B12, Serum Vitamin B6, MTHFR, and Risk of Normal-Tension Glaucoma.

    Li, Jinmiao; Xu, Fan; Zeng, Rui; Gong, Haijun; Lan, Yuqing

    2016-02-01

    This meta-analysis aims to comprehensively evaluate the association between total homocysteine (tHcy) levels, serum folic acid, vitamin B12, vitamin B6 levels, methylenetetrahydrofolate reductase (MTHFR) C677T genotype, and risk of normal-tension glaucoma (NTG). A systematic search of the EMBASE and PubMed databases was performed to evaluate plasma tHcy levels, serum folic acid, B vitamins' mean difference, and odds ratios of MTHFR C677T genotype between cases and controls. A total of 7 studies including 458 cases and 555 controls meeting the inclusion criteria were involved in this meta-analysis. There were 4 studies for tHcy (149 cases and 148 controls), 2 studies for vitamin B6, vitamin B12, and folate (90 cases and 82 controls), and 4 studies for MTHFR (343 cases and 449 controls). Overall, the mean plasma tHcy levels, serum folic acids, vitamin B12, and vitamin B6 levels were 1.16 μmol/L [95% confidence interval (CI), -0.13, 2.45], -0.62 μmol/L (95% CI, -1.98, 0.74), 5.81 μmol/L (95% CI, -3.53, 15.14), and -16.79 μmol/L (95% CI, -86.09, 52.51). MTHFR TT genotype was found to be unrelated to NTG risk (odds ratio=1.08; 95% CI, 0.69, 1.69). NTG is not associated with elevated plasma tHcy, serum folic acid, serum vitamin B12, serum vitamin B6, and MTHFR C677T genotype.

  5. Prenatal exposure to maternal depressed mood and the MTHFR C677T variant affect SLC6A4 methylation in infants at birth.

    Angela M Devlin

    2010-08-01

    Full Text Available Prenatal and early postnatal exposure to maternal depression may "program" childhood behavior via epigenetic processes such as DNA methylation. Methylenetetrahydro-folate reductase (MTHFR is an important enzyme in the generation of methyl groups for DNA methylation. The common MTHFR C677T variant is associated with depression in men and non-pregnant women, and with global changes in DNA methylation. This study investigated the effect of maternal MTHFR C677T genotype on antenatal maternal mood, and their impact on the gene-specific methylation in pregnant women and their newborn infants. The methylation status of SLC6A4, which encodes the transmembrane serotonin transporter, and BDNF, which encodes brain derived neurotrophic factor, were assessed because of their potential role in behaviour.Depressed mood was assessed by the Edinburgh Postnatal Depression Scale (EPDS and the Hamilton Rating Scale for Depression (HAM-D in women (n = 82, all taking folate during the 2(nd and 3(rd trimesters of pregnancy. The methylation status of SLC6A4 and BDNF were assessed in 3rd trimester maternal peripheral leukocytes and in umbilical cord leukocytes collected from their infants at birth. Women with the MTHFR 677TT genotype had greater 2(nd trimester depressed mood (p<0.05. Increased 2(nd trimester maternal depressed mood (EPDS scores was associated with decreased maternal and infant SLC6A4 promoter methylation (p<0.05, but had no effect on BDNF promoter methylation.These findings show that the MTHFR C677T variant is associated with greater depressed mood during pregnancy. We further showed that prenatal exposure to maternal depressed mood affects gene-specific DNA methylation patterns. These findings support the concept that alterations in epigenetic processes may contribute to developmental programming of behaviour by maternal depression.

  6. Sodium arsenite alters cell cycle and MTHFR, MT1/2, and c-Myc protein levels in MCF-7 cells

    Ruiz-Ramos, Ruben; Lopez-Carrillo, Lizbeth; Albores, Arnulfo; Hernandez-Ramirez, Raul U.; Cebrian, Mariano E.

    2009-01-01

    There is limited available information on the effects of arsenic on enzymes participating in the folate cycle. Therefore, our aim was to evaluate the effects of sodium arsenite on the protein levels of methylenetetrahydrofolate reductase (MTHFR) and dihydrofolate reductase (DHFR) and its further relationship with the expression MT1/2 and c-myc in MCF-7 cells. Arsenite treatment (0-10 μM) for 4 h decreased MTHFR levels in a concentration-dependent fashion without significant effects on DHFR. The effects on MTHFR were observed at arsenite concentrations not significantly affecting cell viability. We also observed an increase in S-phase recruitment at all concentrations probed. Lower concentrations (< 5 μM) induced cell proliferation, showing a high proportion of BrdU-stained cells, indicating a higher DNA synthesis rate. However, higher concentrations (≥ 5 μM) or longer treatment periods induced apoptosis. Arsenite also induced dose-dependent increases in MT1/2 and c-Myc protein levels. The levels of MTHFR were inversely correlated to MT1/2 and c-Myc overexpression and increased S-phase recruitment. Our findings indicate that breast epithelial cells are responsive to arsenite and suggest that exposure may pose a risk for breast cancer. The reductions in MTHFR protein levels contribute to understand the mechanisms underlying the induction of genes influencing growth regulation, such as c-myc and MT1/2. However, further research is needed to ascertain if the effects here reported following short-time and high-dose exposure are relevant for human populations chronically exposed to low arsenic concentrations.

  7. Prueba de tolerancia oral a la glucosa modificada en puérperas como diagnóstico retrospectivo de diabetes gestacional

    Joel Cárdenas

    2004-03-01

    Full Text Available Objetivo: Determinar la relación entre la prueba de tolerancia oral a la glucosa (PTOG en puérperas con macrosomia fetal y plantearla como método de diagnóstico retrospectivo para diabetes gestacional. Diseño de estudio: Estudio clínico, de corte transversal, analítico, casos y controles. Material y Métodos: Estudio de 142 puérperas, 71 con recién nacidos macrosómicos y 71 con recién nacidos con pesos en percentiles de la normalidad. Se realizó una PTOG modificada de dos horas (basal, 1h y 2 h, con 100 g de glucosa, entre las primeras 8 y 48 horas posparto (positivo si [glicemia 2h - basal] + [glicemia 1h - basal] 110 mg/dL. Se utilizó el SPSS 10,0 para crear la base de datos y realizar el análisis estadístico: análisis univariado, bivariado para evaluar la hipótesis, y finalmente un análisis multivariado. Resultados: La PTOG anormal resultó un factor de riesgo para macrosomia fetal, con un odds ratio ajustado de 5,9; IC95% 2,6-13,4. Se encontró asociación entre antecedente de macrosomia fetal, odds ratio 15,7; IC95% 1,9-123,6 y control prenatal odds ratio 5,7; IC95% 1,2-26,8. Conclusión: Existe relación entre la PTOG en puérperas y macrosomia fetal, que puede ser usada como prueba diagnóstica retrospectiva de diabetes gestacional.

  8. Adherencia de los profesionales al protocolo de manejo y red de apoyo familiar de sífilis gestacional y congénita

    Luz Myriam Tobón-Borrero

    2014-12-01

    Full Text Available Objetivo: Determinar la adherencia de los profesionales médicos y de enfermería al protocolo de sífilis congénita y gestacional implementado por el Ministerio de la Protección Social. Materiales y Métodos: Estudio descriptivo longitudinal con una población de 215 gestantes y una muestra de 11 gestantes diagnosticadas con sífilis gestacional en 10 municipios de un departamento en Colombia entre febrero y abril de 2013. Se utilizaron como instrumentos el Familiograma, Faces III (Olson, Lista de chequeo protocolo. Medidas de tendencia central. Participación voluntaria bajo consentimiento informado. Resultados: la media poblacional es de 20 años, baja escolaridad, amas de casa, en unión libre, todas afiliadas a seguridad social. El 60% corresponde a familias nucleares, faces III: 50% familias equilibradas, 30% moderadas y 20% extremas. Protocolo: Una gestante no tuvo control prenatal, el 54,5% no registran factores de riesgo, 60,3% diagnosticadas en tercer trimestre, 36,3% de recién nacidos con sífilis congénita, no se registra seguimiento serológico, no hay registro educativo a la paciente ni a la pareja, no hay valoración de genitales ni piel en examen físico de las gestantes, atención a RN incompleta, tratamiento suministrado adecuado. Conclusiones: Predominio de las familias nucleares y equilibradas, con capacidad de aprender de las crisis. No hay adherencia total al protocolo, no hay seguimiento por parte de los profesionales que brindan atención y cuidado a la usuaria. Se evidencia falta de educación continua en el tema al profesional de enfermería como líder del proceso en la región.

  9. Algoritmos para genómica comparativa

    Figueiras, Vasco da Rocha

    2010-01-01

    Com o surgimento da Genómica e da Proteómica, a Bioinformática conduziu a alguns dos avanços científicos mais relevantes do século XX. A Unidade de Investigação e Desenvolvimento do Biocant, parque biotecnológico de Cantanhede, assume actualmente o papel de motor no desenvolvimento da Genómica. O Biocant possui um importante sequenciador de larga escala que permite armazenar um elevado número de genomas, nomeadamente, genomas de bactérias. O estudo proposto reflecte a necessidade do Bio...

  10. Folate intake, alcohol consumption, and the methylenetetrahydrofolate reductase (MTHFR C677T gene polymorphism: influence on prostate cancer risk and interactions

    Lindsay C Kobayashi

    2012-08-01

    Full Text Available Purpose: Folate is essential to DNA methylation and synthesis and may have a complex dualistic role in prostate cancer. Alcohol use may increase risk and epigenetic factors may interact with lifestyle exposures. We aimed to characterize the independent and joint effects of folate intake, alcohol consumption, and the MTHFR C677T gene polymorphism on prostate cancer risk, while accounting for intakes of vitamins B2, B6, B12, methionine, total energy, and confounders.Methods: A case-control study was conducted at Kingston General Hospital of 80 incident primary prostate cancer cases and 334 urology clinic controls, all with normal age-specific PSA levels (to exclude latent prostate cancers. Participants completed a questionnaire on folate and alcohol intakes and potential confounders prior to knowledge of diagnosis, eliminating recall bias, and blood was drawn for MTHFR genotyping. Joint effects of exposures were assessed using unconditional logistic regression and significance of multiplicative and additive interactions using general linear models.Results: Folate, vitamins B2, B6, B12, methionine, and the CT and TT genotypes were not associated with prostate cancer risk. The highest tertile of lifetime alcohol consumption was associated with increased risk (OR=2.08; 95% CI: 1.12-3.86. Consumption of >5 alcoholic drinks/week was associated with increased prostate cancer risk among men with low folate intake (OR=2.38; 95% CI: 1.01-5.57 and higher risk among those with the CC MTHFR genotype (OR=4.43; 95% CI: 1.15-17.05. Increased risk was also apparent for weekly alcohol consumption when accounting for the multiplicative interaction between folate intake and MTHFR C677T genotype (OR=3.22; 95% CI: 1.36-7.59.Conclusion: Alcohol consumption is associated with increased prostate cancer risk, and this association is stronger among men with low folate intake, with the CC MTHFR genotype, and when accounting for the joint effect of folate intake and MTHFR C

  11. Folate intake, alcohol consumption, and the methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism: influence on prostate cancer risk and interactions

    Kobayashi, Lindsay C.; Limburg, Heather; Miao, Qun; Woolcott, Christy; Bedard, Leanne L.; Massey, Thomas E.; Aronson, Kristan J.

    2012-01-01

    Purpose: Folate is essential to DNA methylation and synthesis and may have a complex dualistic role in prostate cancer. Alcohol use may increase risk and epigenetic factors may interact with lifestyle exposures. We aimed to characterize the independent and joint effects of folate intake, alcohol consumption, and the MTHFR C677T gene polymorphism on prostate cancer risk, while accounting for intakes of vitamins B 2 , B 6 , B 12 , methionine, total energy, and confounders. Methods: A case-control study was conducted at Kingston General Hospital of 80 incident primary prostate cancer cases and 334 urology clinic controls, all with normal age-specific PSA levels (to exclude latent prostate cancers). Participants completed a questionnaire on folate and alcohol intakes and potential confounders prior to knowledge of diagnosis, eliminating recall bias, and blood was drawn for MTHFR genotyping. Joint effects of exposures were assessed using unconditional logistic regression and significance of multiplicative and additive interactions using general linear models. Results: Folate, vitamins B 2 , B 6 , B 12 , methionine, and the CT and TT genotypes were not associated with prostate cancer risk. The highest tertile of lifetime alcohol consumption was associated with increased risk (OR = 2.08; 95% CI: 1.12–3.86). Consumption of >5 alcoholic drinks per week was associated with increased prostate cancer risk among men with low folate intake (OR = 2.38; 95% CI: 1.01–5.57), and higher risk among those with the CC MTHFR genotype (OR = 4.43; 95% CI: 1.15–17.05). Increased risk was also apparent for average weekly alcohol consumption when accounting for the multiplicative interaction between folate intake and MTHFR C677T genotype (OR = 3.22; 95% CI: 1.36–7.59). Conclusion: Alcohol consumption is associated with increased prostate cancer risk, and this association is stronger among men with low folate intake, with the CC MTHFR genotype, and when accounting for the joint effect

  12. Plasminogen activator inhibitor-1 4G/5G and the MTHFR 677C/T polymorphisms and susceptibility to polycystic ovary syndrome: a meta-analysis.

    Lee, Young Ho; Song, Gwan Gyu

    2014-04-01

    The aim of this study was to explore whether the plasminogen activator inhibitor-1 (PAI-1) 4G/5G and the methylenetetrahydrofolate reductase (MTHFR) 677C/T polymorphisms are associated with susceptibility to polycystic ovary syndrome (PCOS). Meta-analyses were conducted to determine the association between the PAI-1 4G/5G and MTHFR 677C/T polymorphisms and PCOS using: (1) allele contrast (2) homozygote contrast, (3) recessive, and (4) dominant models. For meta-analysis, nine studies of the PAI-1 4G/5G polymorphism with 2384 subjects (PCOS, 1615; controls, 769) and eight studies of the MTHFR 677C/T polymorphism with 1270 study subjects were included. Meta-analysis of all study subjects showed no association between PCOS and the PAI-1 4G allele (OR=0.949, 95% CI=0.671-1.343, p=0.767). Stratification by ethnicity, however, indicated a significant association between the PAI-1 4G allele and PCOS in Turkish and Asian populations (OR=0.776, 95% CI=0.602-0.999, p=0.049; OR=1.749, 95% CI=1.297-2.359, p=2.5×10(-5) respectively). In addition, meta-analysis indicated an association between PCOS and the PAI-1 4G4G+4G5G genotype in Europeans (OR=1.406, 95% CI=1.025-1.928, p=0.035). However, meta-analysis of all study subjects showed no association between PCOS and the MTHFR 677T allele (OR=0.998, 95% CI=0.762-1.307, p=0.989), including Europeans (OR=0.806, 95% CI=0.610-1.063, p=0.126). Meta-analysis showed no association between PCOS and the MTHFR 677C/T polymorphism using homozygote contrast, and recessive and dominant models. In conclusion, meta-analysis suggests the PAI-1 4G/5G polymorphism is associated with susceptibility to PCOS in European, Turkish, and Asian populations, but the MTHFR 677C/T polymorphism is not associated with susceptibility to PCOS in Europeans. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  13. Preserving Accuracy in GenBank

    Bidartondo, M.I.; Bruns, T. D.; Blackwell, M.

    2008-01-01

    GenBank, the public repository for nucleotide and protein sequences, is a critical resource for molecular biology, evolutionary biology, and ecology. While some attention has been drawn to sequence errors (1), common annotation errors also reduce the value of this database. In fact, for organisms...

  14. Teleport Generation 3 (Teleport Gen 3)

    2016-03-01

    for high- throughput multi-band and multimedia connectivity from deployed locations to DISN and DoD Information Network (DoDIN) information sources and...2016 Major Automated Information System Annual Report Teleport Generation 3 (Teleport Gen 3) Defense Acquisition Management Information Retrieval...Program Information 4 Responsible Office 4 References 4 Program Description 5 Business Case 6 Program Status 8 Schedule 9

  15. Divergência genética entre genótipos de frangos tipo caipira

    R. C. Veloso

    2015-10-01

    Full Text Available RESUMOObjetivou-se com este trabalho verificar a divergência genética entre sete genótipos de frangos tipo caipira da linhagem Redbro utilizando as características de desempenho por meio de técnicas de análise multivariada. Foram utilizados 840 pintos de um dia, machos, distribuídos em delineamento inteiramente ao acaso, dos seguintes genótipos: Caboclo, Carijó, Colorpak, Gigante Negro, Pesadão Vermelho, Pescoço Pelado e Tricolor. Após a consistência dos dados, foram avaliadas as seguintes variáveis: ganho em peso médio diário, consumo de ração médio diário e conversão alimentar, para os períodos: 1 a 28, 1 a 56, 1 a 70 e 1 a 84 dias de idade; peso corporal ao nascimento, aos 28, 56, 70 e aos 84 dias de idade. O desempenho dos genótipos foi avaliado por meio da análise de variância multivariada e da função discriminante linear de Fisher, usando os testes do maior autovalor de Roy e da união-interseção de Roy para as comparações múltiplas. O estudo da divergência genética foi feito por meio da análise por variáveis canônicas e pelo método de otimização de Tocher. Os genótipos Caboclo e Gigante Negro apresentaram médias canônicas diferentes dos demais genótipos. As duas primeiras variáveis canônicas explicaram 97,41% da variação entre os genótipos. A divergência genética entre os genótipos avaliados permitiu a formação de quatro grupos com os seguintes genótipos: grupo 1 - Colorpak; grupo 2 - Pesadão Vermelho e Pescoço Pelado; grupo 3 - Carijó e Tricolor; e grupo 4 - Caboclo e Gigante Negro.

  16. Next Gen One Portal Usability Evaluation

    Cross, E. V., III; Perera, J. S.; Hanson, A. M.; English, K.; Vu, L.; Amonette, W.

    2018-01-01

    Each exercise device on the International Space Station (ISS) has a unique, customized software system interface with unique layouts / hierarchy, and operational principles that require significant crew training. Furthermore, the software programs are not adaptable and provide no real-time feedback or motivation to enhance the exercise experience and/or prevent injuries. Additionally, the graphical user interfaces (GUI) of these systems present information through multiple layers resulting in difficulty navigating to the desired screens and functions. These limitations of current exercise device GUI's lead to increased crew time spent on initiating, loading, performing exercises, logging data and exiting the system. To address these limitations a Next Generation One Portal (NextGen One Portal) Crew Countermeasure System (CMS) was developed, which utilizes the latest industry guidelines in GUI designs to provide an intuitive ease of use approach (i.e., 80% of the functionality gained within 5-10 minutes of initial use without/limited formal training required). This is accomplished by providing a consistent interface using common software to reduce crew training, increase efficiency & user satisfaction while also reducing development & maintenance costs. Results from the usability evaluations showed the NextGen One Portal UI having greater efficiency, learnability, memorability, usability and overall user experience than the current Advanced Resistive Exercise Device (ARED) UI used by astronauts on ISS. Specifically, the design of the One-Portal UI as an app interface similar to those found on the Apple and Google's App Store, assisted many of the participants in grasping the concepts of the interface with minimum training. Although the NextGen One-Portal UI was shown to be an overall better interface, observations by the test facilitators noted specific exercise tasks appeared to have a significant impact on the NextGen One-Portal UI efficiency. Future updates to

  17. Effect of lifestyle factors on plasma total homocysteine concentrations in relation to MTHFR(C677T) genotype. Inter99 (7)

    Husemoen, L L N; Thomsen, T F; Fenger, M

    2004-01-01

    a Fluorescent Polarization Immuno Assay. MTHFR-genotype was determined by PCR and RFLP analysis. Information about lifestyle factors was obtained from a self-administered questionnaire. RESULTS: Daily smoking, less healthy dietary habits, and coffee drinking were associated with elevated tHcy concentrations...... independent of other determinants. Wine consumption was related to tHcy in a J-shaped manner, whereas beer consumption was negatively associated with tHcy after multiple adjustments. Interaction was observed between smoking status and MTHFR-genotype, smoking status and sex, and beer consumption and age....... The effect of smoking was more pronounced in persons with the TT genotype and in women. The effect of beer consumption was more pronounced at younger than at older ages. CONCLUSIONS: Smoking status, dietary habits, coffee intake, wine, and beer consumption were major lifestyle determinants of tHcy. Changes...

  18. Effect of lifestyle factors on plasma total homocysteine concentrations in relation to MTHFR(C677T) genotype. Inter99 (7)

    Husemoen, L L N; Thomsen, T F; Fenger, M

    2004-01-01

    a Fluorescent Polarization Immuno Assay. MTHFR-genotype was determined by PCR and RFLP analysis. Information about lifestyle factors was obtained from a self-administered questionnaire. RESULTS: Daily smoking, less healthy dietary habits, and coffee drinking were associated with elevated tHcy concentrations......OBJECTIVE: To examine the associations between various lifestyle factors--smoking habits, physical activity, dietary habits, coffee, tea, and alcohol consumption--and homocysteine (tHcy) in relation to MTHFR(C677T) genotype. DESIGN: Cross-sectional population-based study. SETTING: Residents....... The effect of smoking was more pronounced in persons with the TT genotype and in women. The effect of beer consumption was more pronounced at younger than at older ages. CONCLUSIONS: Smoking status, dietary habits, coffee intake, wine, and beer consumption were major lifestyle determinants of tHcy. Changes...

  19. Changes in lifestyle, biological risk factors and total homocysteine in relation to MTHFR C677T genotype: a 5-year follow-up study

    Husemoen, L L N; Linneberg, A; Fenger, M

    2009-01-01

    to increased tHcy in cross-sectional studies. In addition, the methylenetetrahydrofolate reductase (MTHFR) C677T gene variant is an important determinant of elevated tHcy. The main objective of the study was to examine the effect of changes in biological risk factors and lifestyle on tHcy in relation to MTHFR......, physical activity, smoking status, coffee, tea, total alcohol or wine consumption. An inverse relationship was observed between changes in tHcy and changes in the intake of beer in TT individuals but not in CC/CT individuals (P (interaction)=0.01). In addition, changes in tHcy were positively associated......BACKGROUND/OBJECTIVES: Total homocysteine (tHcy) has been associated with increased risk of several diseases in the general population. It is not clear whether these associations are causal. A less healthy lifestyle as well as a less favorable biological risk factor profile have been related...

  20. Alterações morfológicas placentárias de recém-nascidos pequenos para a idade gestacional Changes in placental morphology of small for gestational age newborns

    Lúcio H. Oliveira

    2002-09-01

    Full Text Available Objetivo: verificar a morfologia placentária de recém-nascidos a termo pequenos para a idade gestacional, tendo como hipótese a existência mais freqüente de alterações placentárias em recém-nascidos pequenos para a idade gestacional do que em adequados para a idade gestacional. Métodos: realizou-se estudo transversal, na maternidade Terezinha de Jesus, em Juiz de Fora, MG, no período compreendido entre fevereiro e novembro de 1996, no qual foram coletados dados referentes a cinqüenta recém-nascidos a termo, estimados como pequenos para a idade gestacional. Como grupo controle, foram incluídos recém-nascidos a termo, estimados como adequados para a idade gestacional, randomizados na proporção de um controle para cada caso. Dos 100 recém-nascidos participantes do estudo, foram obtidas as placentas, cordão umbilical e membranas, que foram examinados no Laboratório de Histologia e Embriologia do Departamento de Morfologia da UFJF e no Departamento de Anatomia Patológica e Medicina Legal da UFMG. As mães foram entrevistadas, e os recém-nascidos avaliados quanto à idade gestacional, peso, comprimento e perímetro cefálico. Resultados: as placentas dos recém-nascidos pequenos para a idade gestacional apresentaram maior incidência de corioamnionite, infarto placentário, deposição perivilosa extensa de fibrina e vilosite crônica em focos múltiplos de localização parabasal, além de mostrarem menor peso e menores diâmetros em relação às placentas do grupo de recém-nascidos adequados para a idade gestacional (p Objective: to verify changes in placental morphology of small for gestational age newborns, considering that the occurrence of placental alterations is more frequent in small for gestational age (SGA infants than in appropriate for gestational age (AGA infants. Methods: fifty SGA newborns were included in a cross-sectional study, which involved gross anatomy and light microscopy of placenta, membranes and

  1. MTHFR and MTRR genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from the Czech Republic

    Pardini, Barbara; Kumar, R.; Naccarati, Alessio; Prasad, R. B.; Försti, A.; Poláková, Veronika; Vodičková, Ludmila; Novotný, J.; Hemminki, K.; Vodička, Pavel

    2011-01-01

    Roč. 721, č. 1 (2011), s. 74-80 ISSN 1383-5718 R&D Projects: GA ČR GP305/09/P194; GA ČR GAP304/10/1286; GA MZd NS10230 Institutional research plan: CEZ:AV0Z50390512 Keywords : Colorectal cancer risk * MTHFR * MTRR Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.035, year: 2011

  2. Influence of Nitrous Oxide Anesthesia, B-Vitamins, and MTHFR gene polymorphisms on Perioperative Cardiac Events: The Vitamins in Nitrous Oxide (VINO) Randomized Trial

    Nagele, Peter; Brown, Frank; Francis, Amber; Scott, Mitchell G.; Gage, Brian F.; Miller, J. Philip

    2013-01-01

    Background Nitrous oxide causes an acute increase in plasma homocysteine that is more pronounced in patients with the MTHFR C677T or A1298C gene variant. In this randomized controlled trial we sought to determine if patients carrying the MTHFR C677T or A1298C variant had a higher risk for perioperative cardiac events after nitrous oxide anesthesia and if this risk could be mitigated by B-vitamins. Methods We randomized adult patients with cardiac risk factors undergoing noncardiac surgery to receive nitrous oxide plus intravenous B-vitamins before and after surgery or to nitrous oxide and placebo. Serial cardiac biomarkers and 12-lead electrocardiograms were obtained. The primary study endpoint was the incidence of myocardial injury, as defined by cardiac troponin I elevation within the first 72 hours after surgery. Results A total of 500 patients completed the trial. Patients who were homozygous for either MTHFR C677T or A1298C gene variant (n= 98; 19.6%) had no increased rate of postoperative cardiac troponin I elevation compared to wild-type and heterozygous patients (11.2% vs. 14.0%; relative risk 0.96, 95% CI 0.85 to 1.07, p=0.48). B-vitamins blunted the rise in homocysteine, but had no effect on cardiac troponin I elevation compared to patients receiving placebo (13.2% vs. 13.6%; relative risk 1.02, 95% CI 0.78 to 1.32, p=0.91). Conclusions Neither MTHFR C677T and A1298C gene variant nor acute homocysteine increase are associated with perioperative cardiac troponin elevation after nitrousoxide anesthesia. B-vitamins blunt nitrous oxide-induced homocysteine increase but have no effect on cardiac troponin elevation. PMID:23856660

  3. Influence of nitrous oxide anesthesia, B-vitamins, and MTHFR gene polymorphisms on perioperative cardiac events: the vitamins in nitrous oxide (VINO) randomized trial.

    Nagele, Peter; Brown, Frank; Francis, Amber; Scott, Mitchell G; Gage, Brian F; Miller, J Philip

    2013-07-01

    Nitrous oxide causes an acute increase in plasma homocysteine that is more pronounced in patients with the methylenetetrahydrofolate reductase (MTHFR) C677T or A1298C gene variant. In this randomized controlled trial, the authors sought to determine whether patients carrying the MTHFR C677T or A1298C variant had a higher risk for perioperative cardiac events after nitrous oxide anesthesia and whether this risk could be mitigated by B-vitamins. The authors randomized adult patients with cardiac risk factors undergoing noncardiac surgery, to receive nitrous oxide plus intravenous B-vitamins before and after surgery, or to nitrous oxide and placebo. Serial cardiac biomarkers and 12-lead electrocardiograms were obtained. The primary study endpoint was the incidence of myocardial injury, as defined by cardiac troponin I increase within the first 72 h after surgery. A total of 500 patients completed the trial. Patients who were homozygous for either MTHFR C677T, or A1298C gene variant (n=98; 19.6%) had no increased rate of postoperative cardiac troponin I increase compared with wild-type and heterozygous patients (11.2 vs. 14.0%; relative risk 0.96; 95% CI, 0.85-1.07; P=0.48). B-vitamins blunted the rise in homocysteine, but had no effect on cardiac troponin I increase compared with patients receiving placebo (13.2 vs. 13.6%; relative risk 1.02; 95% CI 0.78 to 1.32; P=0.91). Neither MTHFR C677T and A1298C gene variant, nor acute homocysteine increase are associated with perioperative cardiac troponin increase after nitrous oxide anesthesia. B-vitamins blunt nitrous oxide-induced homocysteine increase but have no effect on cardiac troponin I increase.

  4. Additive Interaction of MTHFR C677T and MTRR A66G Polymorphisms with Being Overweight/Obesity on the Risk of Type 2 Diabetes

    Xueyuan Zhi

    2016-12-01

    Full Text Available Although both methylenetetrahydrofolate reductase (MTHFR C677T and methionine synthase reductase (MTRR A66G polymorphisms have been associated with type 2 diabetes (T2D, their interactions with being overweight/obesity on T2D risk remain unclear. To evaluate the associations of the two polymorphisms with T2D and their interactions with being overweight/obesity on T2D risk, a case-control study of 180 T2D patients and 350 healthy controls was conducted in northern China. Additive interaction was estimated using relative excess risk due to interaction (RERI, attributable proportion due to interaction (AP and synergy index (S. After adjustments for age and gender, borderline significant associations of the MTHFR C677T and MTRR A66G polymorphisms with T2D were observed under recessive (OR = 1.43, 95% CI: 0.98–2.10 and dominant (OR = 1.43, 95% CI: 1.00–2.06 models, respectively. There was a significant interaction between the MTHFR 677TT genotype and being overweight/obesity on T2D risk (AP = 0.404, 95% CI: 0.047–0.761, in addition to the MTRR 66AG/GG genotypes (RERI = 1.703, 95% CI: 0.401–3.004; AP = 0.528, 95% CI: 0.223–0.834. Our findings suggest that individuals with the MTHFR 677TT or MTRR 66AG/GG genotypes are more susceptible to the detrimental effect of being overweight/obesity on T2D. Further large-scale studies are still needed to confirm our findings.

  5. Gen IV Materials Handbook Implementation Plan

    Rittenhouse, P.; Ren, W.

    2005-01-01

    A Gen IV Materials Handbook is being developed to provide an authoritative single source of highly qualified structural materials information and materials properties data for use in design and analyses of all Generation IV Reactor Systems. The Handbook will be responsive to the needs expressed by all of the principal government, national laboratory, and private company stakeholders of Gen IV Reactor Systems. The Gen IV Materials Handbook Implementation Plan provided here addresses the purpose, rationale, attributes, and benefits of the Handbook and will detail its content, format, quality assurance, applicability, and access. Structural materials, both metallic and ceramic, for all Gen IV reactor types currently supported by the Department of Energy (DOE) will be included in the Gen IV Materials Handbook. However, initial emphasis will be on materials for the Very High Temperature Reactor (VHTR). Descriptive information (e.g., chemical composition and applicable technical specifications and codes) will be provided for each material along with an extensive presentation of mechanical and physical property data including consideration of temperature, irradiation, environment, etc. effects on properties. Access to the Gen IV Materials Handbook will be internet-based with appropriate levels of control. Information and data in the Handbook will be configured to allow search by material classes, specific materials, specific information or property class, specific property, data parameters, and individual data points identified with materials parameters, test conditions, and data source. Details on all of these as well as proposed applicability and consideration of data quality classes are provided in the Implementation Plan. Website development for the Handbook is divided into six phases including (1) detailed product analysis and specification, (2) simulation and design, (3) implementation and testing, (4) product release, (5) project/product evaluation, and (6) product

  6. Nutrição precoce de neonatos prematuros estáveis e pequenos para a idade gestacional: um ensaio clínico randomizado

    Shmuel Arnon

    2013-08-01

    Full Text Available OBJETIVO: Examinar o efeito da nutrição precoce sobre o tempo para atingir a nutrição completa em neonatos prematuros (PIG estáveis pequenos para a idade gestacional. MÉTODO: Os neonatos prematuros com idade gestacional inferior a 37 semanas e peso ao nascer inferior a 10% foram alocados aleatoriamente para um regime de nutrição precoce (nas primeiras 24 horas de vida ou tardia (após as primeiras 24 horas de vida. Todos os neonatos apresentaram uma evidência intrauterina de fluxo diastólico reverso ou ausente. Os neonatos incapazes de iniciar uma nutrição precoce foram excluídos. O tempo para a alimentação completa, a progressão da nutrição e morbidez correspondente foram comparados. A eletrogastrografia (EGG foi utilizada para mensurar a motilidade gástrica pré e pós-prandial no segundo e no sétimo dias após o início da nutrição. RESULTADOS: Foram incluídos 60 neonatos no estudo, sendo 30 em cada grupo. Os neonatos incluídos no regime de nutrição precoce atingiram a nutrição enteral completa antes dos neonatos do grupo de controle (98±80-157 em comparação a 172±1 23-261 horas de idade, respectivamente; p = 0,004 e recebiam alta hospitalar antes (p = 0,04. Nenhuma enterocolite necrosante (ECN foi comprovada em ambos os grupos de estudo. A motilidade gástrica melhorou no sétimo dia após o início da nutrição em ambos os grupos de estudo, sem diferença entre eles. CONCLUSÕES: Os neonatos prematuros PIG estáveis em regime de nutrição precoce atingiram alimentação enteral completa e receberam alta hospitalar significativamente antes que aqueles em regime de nutrição tardio, sem morbidez excedente.

  7. Human MTHFR-G1793A transition may be a protective mutation against male infertility: a genetic association study and in silico analysis.

    Karimian, Mohammad; Hosseinzadeh Colagar, Abasalt

    2018-06-01

    In this paper, we evaluate the association of the human methylenetetrahydrofolate reductase (MTHFR)-G1793A transition with male infertility using a case-control study, a meta-analysis and an in silico analysis. In the case-control study, 308 blood samples (169 infertile and 139 fertile men) were collected. MTHFR-G1793A genotyping was performed by PCR-RFLP. The study revealed a significant protective association between the GA genotype (OR: 0.3737, 95%CI: 0.1874-0.7452, p = 0.0052) and A allele (OR: 0.4266, 95%CI: 0.2267-0.8030, p = 0.0083) with male infertility. Meta-analysis showed that the G1793A transition might be a protective mutation against male infertility in both A vs. G (OR: 0.608, 95%CI: 0.466-0.792, p silico-analysis revealed that although G1793A could not make fundamental changes in the function and structure of MTHFR, it could modify the structure of the mRNA (Distance =0.1809, p = 0.1095; p < 0.2 is significant). The results suggest that G1793A substitution might be a protective genetic factor against male infertility. However, further case-control studies are required to provide a more robust conclusion.

  8. MTHFR and HFE, but not preproghrelin and LBP, polymorphisms as risk factors for all-cause end-stage renal disease development.

    Bloudíčková, S; Kuthanová, L; Hubáček, J A

    2014-01-01

    End-stage renal disease (ESRD) is a serious health problem worldwide. The high prevalence of cardiovascular diseases and chronic inflammation remains a major cause of morbidity and mortality in haemodialysed patients. Beside some external factors, genetic predisposition both to renal failure and poor prognosis has been assumed. We have collected a total of 1,014 haemodialysed patients and 2,559 unrelated healthy Caucasians. Single-nucleotide polymorphisms (SNPs) in genes for preproghrelin (GHRL), lipopolysaccharide-binding protein (LBP), HFE and MTHFR were genotyped. In the group of patients, significantly more carriers presented the MTHFR T667T (P = 0.002) and HFE Asp63Asp (P = 0.001) and Cys282Cys (P = 0.01) genotypes. The frequencies of individual SNPs within GHRL and LBP genes did not differ between the patients and controls. The trends in genotype frequencies did not differ between the subgroups of patients with different time on haemodialysis. Common variants in MTHFR and HFE could be a risk factor for all-cause ESRD development, but are not predictors for the survival on haemodialysis.

  9. MTHFR C677T and MTR A2756G polymorphisms and the homocysteine lowering efficacy of different doses of folic acid in hypertensive Chinese adults

    Qin Xianhui

    2012-01-01

    Full Text Available Abstract Background This study aimed to investigate if the homocysteine-lowering efficacy of two commonly used physiological doses (0.4 mg/d and 0.8 mg/d of folic acid (FA can be modified by individual methylenetetrahydrofolate reductase (MTHFR C677T and/or methionine synthase (MTR A2756G polymorphisms in hypertensive Chinese adults. Methods A total of 480 subjects with mild or moderate essential hypertension were randomly assigned to three treatment groups: 1 enalapril only (10 mg, control group; 2 enalapril-FA tablet [10:0.4 mg (10 mg enalapril combined with 0.4 mg of FA, low FA group]; and 3 enalapril-FA tablet (10:0.8 mg, high FA group, once daily for 8 weeks. Results After 4 or 8 weeks of treatment, homocysteine concentrations were reduced across all genotypes and FA dosage groups, except in subjects with MTR 2756AG /GG genotype in the low FA group at week 4. However, compared to subjects with MTHFR 677CC genotype, homocysteine concentrations remained higher in subjects with CT or TT genotype in the low FA group (P P P = 0.005, but not in the low FA group (CC 9.9% vs. TT 11.2%, P = 0.989. Conclusions This study demonstrated that MTHFR C677T polymorphism can not only affect homocysteine concentration at baseline and post-FA treatment, but also can modify therapeutic responses to various dosages of FA supplementation.

  10. Genética humana e sociedade

    Rosa, Vivian Leyser da

    2000-01-01

    Tese (doutorado) - Universidade Federal de Santa Catarina, Centro de Ciências da Educação. Análise do campo de estudos sobre o entendimento público da ciência, distinguindo os modelos de deficit cognitivo e interativo, bem como suas implicações na esfera educacional. Estudo do panorama dos avanços atuais da genética humana, do ponto de vista científico, ético e social. Análise de aspectos relativos ao ensino de genética humana nos cursos de graduação da área da saúde, em nove Universidades...

  11. Targeted NextGen Capabilities for 2025

    2011-11-01

    increased arrival capacity to single runways by reducing longitudinal wake separation standards for Instrument Flight Rules ( IFR ) operations under certain...b. ABSTRACT unclassified c. THIS PAGE unclassified Standard Form 298 (Rev. 8-98) Prescribed by ANSI Std Z39-18 Targeted NextGen Capabilities...The examples cited are not intended to cover every aircraft and every flight. In some instances, the available capabilities for 2025 will not be

  12. Experiencia y percepciones de la diabetes gestacional y su automanejo en un grupo de mujeres multíparas con sobrepeso

    Mayra Chávez-Courtois

    2014-06-01

    Full Text Available La diabetes mellitus gestacional (DMG es un problema de salud pública en México, cuya primer línea de tratamiento es la dietoterapia. Se requieren habilidades de automanejo para el control de la enfermedad. En este trabajo se estudiaron cinco mujeres con DMG, quienes manifestaron su percepción de riesgo de la presencia de la DMG y vivencias en algunas prácticas del autocuidado. Se obtuvieron datos sociodemográficos; se realizaron entrevistas en profundidad, las cuales se analizaron con el paquete Atlas ti V.5. Los resultados demuestran que las mujeres están conscientes del papel que juega la alimentación y la actividad física en mejorar el control de su enfermedad, además de los riesgos perinatales a los que se asocia la DMG. El cumplimiento de las recomendaciones dietéticas en su mayoría fue parcial, pero se demuestran cambios positivos y graduales en el estilo de vida. Las percepciones desde las emociones que les produce la DMG, fue factor clave para que llevaran a cabo la dieta. En conclusión, el tratamiento médico y dietético influye en el comportamiento cultural alimentario de las mujeres con DMG. Los profesionales de la salud deben tomar en cuenta los determinantes socioculturales al diseñar e implementar estrategias de tratamiento.

  13. Avaliação do perfil e dos cuidados no pré-natal de mulheres com diabetes mellitus gestacional

    Francisca Adriele Vieira Neta

    2014-01-01

    Full Text Available El objetivo fue identificar el perfil sociodemográfico, clínico y obstétrico, así como la atención prenatal de mujeres con diabetes mellitus gestacional. Estudio transversal, con 50 mujeres, en una maternidad pública de Fortaleza, CE, Brasil, de noviembre 2012 a septiembre 2013. Se constató edad promedia de 31,34 años, atención prenatal temprana en el primer trimestre (76,0%, parto abdominal (63,6% y tratamiento no farmacológico (78,0%. Las patologías asociadas fueron hipertensión arterial (18,0%, ruptura prematura de membranas (16,0% y desprendimiento precoz de la placenta (16,0%. En 18.0%, la glucosa no fue evaluada en la admisión hospitalaria, así como la comprobación de la presión arterial 2,0%; 8,0% no tenían la evaluación de la auscultación de los batimientos del corazón del feto y 4,0% de la altura uterina. Estos resultados señalan la necesidad de intervenciones que garanticen a la embarazada con diabetes mellitus asistencia adecuada, previniendo complicaciones al binomio madre e hijo.

  14. MTHFR deficiency or reduced intake of folate or choline in pregnant mice results in impaired short-term memory and increased apoptosis in the hippocampus of wild-type offspring.

    Jadavji, N M; Deng, L; Malysheva, O; Caudill, M A; Rozen, R

    2015-08-06

    Genetic or nutritional disturbances in one-carbon metabolism, with associated hyperhomocysteinemia, can result in complex disorders including pregnancy complications and neuropsychiatric diseases. In earlier work, we showed that mice with a complete deficiency of methylenetetrahydrofolate reductase (MTHFR), a critical enzyme in folate and homocysteine metabolism, had cognitive impairment with disturbances in choline metabolism. Maternal demands for folate and choline are increased during pregnancy and deficiencies of these nutrients result in several negative outcomes including increased resorption and delayed development. The goal of this study was to investigate the behavioral and neurobiological impact of a maternal genetic deficiency in MTHFR or maternal nutritional deficiency of folate or choline during pregnancy on 3-week-old Mthfr(+/+) offspring. Mthfr(+/+) and Mthfr(+/-) females were placed on control diets (CD); and Mthfr(+/+) females were placed on folate-deficient diets (FD) or choline-deficient diets (ChDD) throughout pregnancy and lactation until their offspring were 3weeks of age. Short-term memory was assessed in offspring, and hippocampal tissue was evaluated for morphological changes, apoptosis, proliferation and choline metabolism. Maternal MTHFR deficiency resulted in short-term memory impairment in offspring. These dams had elevated levels of plasma homocysteine when compared with wild-type dams. There were no differences in plasma homocysteine in offspring. Increased apoptosis and proliferation was observed in the hippocampus of offspring from Mthfr(+/-) mothers. In the maternal FD and ChDD study, offspring also showed short-term memory impairment with increased apoptosis in the hippocampus; increased neurogenesis was observed in ChDD offspring. Choline acetyltransferase protein was increased in the offspring hippocampus of both dietary groups and betaine was decreased in the hippocampus of FD offspring. Our results reveal short-term memory

  15. Market share scenarios for Gen-DIII and gen-IV reactors in Europe

    Roelofs, F.; Heek, A. V.; Durpel, L. V. D.

    2008-01-01

    Nuclear energy is back on the agenda worldwide in order to meet growing energy demand and especially the growth in electricity demand. Many objectives direct to an increased use of nuclear energy, i.e. minimising energy costs, reducing climate change effects and others. In the light of the potential renewed growth of nuclear energy, the public demands a clear view on what nuclear energy may contribute towards meeting these objectives and especially how nuclear energy may address some socio-political obstructions with respect to economics, radioactive waste, safety and proliferation of fissile materials. To address these questions, the future nuclear reactor park mix in Europe has been analysed applying an integrated dynamic process modelling technique. Various market share scenarios for nuclear energy are derived including sub-variants with regard to the intra-nuclear options. In the analyses, it is assumed that different types of new reactors may be built, taking into account the introduction date of considered Gen-Ill (i.e. EPR) and Gen-IV (i.e. SCWR, HTR, FR) reactors, and the economic evaluation of the complete fuel cycle. The assessment was undertaken using the DANESS code (Dynamic Analysis of Nuclear Energy System Strategies). The analyses show that given the considered realistic nuclear energy demand and given a limited number of available Gen-III and Gen-IV reactor types, the future European nuclear park will exist of combinations of Gen-III and Gen-IV reactors. This mix will always consist of a set of reactor types each having its specific strengths. The analyses also highlight the triggers influencing the choice between different nuclear energy deployment scenarios. (authors)

  16. Recommendations and Requirements for GenCade Simluations

    2014-08-01

    will report whether or not GenCade is enabled. If GenCade is disabled , the user will need a new license that includes GenCade...any depth but usually are not deeper than the seaward edge of the surf - zone. In the same way that some shorelines are less desirable for use in...Conference, 1919–1937. ASCE. Wang, P., N. C. Kraus, and R. A. Davis. 1998. Total rate of longshore sediment transport in the surf zone: Field

  17. [Homocysteine levels and polymorphisms of MTHFR and CBS genes in Colombian patients with superficial and deep venous thrombosis].

    Ayala, Claudia; García, Reggie; Cruz, Edith; Prieto, Karol; Bermúdez, Marta

    2010-01-01

    Thrombosis develops when the hemostatic system is incorrectly activated due to the unbalance between procoagulant, anticoagulant and fibrinolytic mechanisms allowing the formation of a clot within a blood vessel. The risk factors of this pathology can be acquired or can be genetic. To analyze in a Colombian population with diagnosis of venous thrombosis, lipid profile, glucose and homocystein levels, to calculate the alleles and genotypic frequencies of polymorphisms c.699 C>T, c.1080 C>T, c.844ins68 of the cystathionine ß synthase and the c.677 C>T of the methylenetetrahydrofolate reductase (MTHFR) genes. Thirty three patients and their controls were studied. The biochemical test was carried out by colorimetric methods and immunoassay. In this survey we used the restriction fragments longitude polymorphism (RLFP) technique to identify the polymorphisms mentioned. The association study was performed through the chi square test. We confirmed that gene alterations increase risk for pathology; we found statistically significant differences in the group with hypercholesterolemia in presence of the polymorphism c.699 C>T in the CBS gene, showing a protective effect in the individuals carrying this genetic variation. Likewise, we found a statistical trend for an eventual protective effect of the CBS c.844ins68 polymorphism to venous thrombotic disease. There were not any statistically significant differences in homocystein levels between cases and controls; nevertheless, the variability in the plasma concentrations was greater in the group of cases.

  18. O impacto da genética na asma infantil

    Pinto,Leonardo A.; Stein,Renato T.; Kabesch,Michael

    2008-01-01

    OBJETIVO: Apresentar os resultados dos estudos mais importantes e recentes sobre a genética da asma. Estes dados devem auxiliar os clínicos gerais a compreender o impacto da genética sobre este distúrbio complexo e como os genes e polimorfismos influenciam a asma e a atopia. FONTES DOS DADOS: Os dados foram coletados do banco de dados MEDLINE. Os estudos de associação genética foram selecionados do Genetic Association Database, um repositório de estudos de associação genética de doenças e dis...

  19. Aconselhamento genético Genetic counseling

    João Monteiro de Pina-Neto

    2008-08-01

    Full Text Available OBJETIVO: Esta revisão sobre aconselhamento genético (AG teve o objetivo de mostrar os conceitos atuais e os princípios filosóficos e éticos aceitos na grande maioria dos países e recomendados pela Organização Mundial da Saúde, as fases do processo, seus resultados e o impacto psicológico de uma doença genética em uma família. FONTES DOS DADOS: Os conceitos apresentados são baseados em uma síntese histórica da literatura sobre AG desde a década de 1930 até o momento atual, sendo que os artigos citados representam os principais trabalhos publicados e que hoje fundamentam a teoria e a prática do AG. SÍNTESE DOS DADOS: O AG modernamente é definido como um processo de comunicação que trata dos problemas humanos relacionados à ocorrência de uma doença genética em uma família. É fundamental que os profissionais da saúde conheçam os aspectos psicológicos desencadeados pela doença genética e como estes aspectos podem ser manejados. Vivemos ainda na genética humana e médica uma fase de predomínio dos aspectos técnicos e científicos e de pouca ênfase no estudo das reações emocionais e dos processos de adaptação das pessoas a estas doenças, o que leva ao baixo entendimento dos clientes sobre os fatos ocorridos, com conseqüências negativas sobre a vida familiar e para a sociedade. CONCLUSÕES: Conclui-se pela necessidade de que as famílias com doenças genéticas sejam encaminhadas para AG e que os profissionais desta área invistam mais na humanização do atendimento, desenvolvendo mais as técnicas do AG psicológico não-diretivo.OBJECTIVE: The objective of this review of genetic counseling (GC is to describe the current concepts and philosophical and ethical principles accepted by the great majority of countries and recommended by the World Health Organization, the stages of the process, its results and the psychological impact that a genetic disease has on a family. SOURCES: The concepts presented are

  20. TidGen Power System Commercialization Project

    Sauer, Christopher R. [President & CEO; McEntee, Jarlath [VP Engineering & CTO

    2013-12-30

    ORPC Maine, LLC, a wholly-owned subsidiary of Ocean Renewable Power Company, LLC (collectively ORPC), submits this Final Technical Report for the TidGen® Power System Commercialization Project (Project), partially funded by the U.S. Department of Energy (DE-EE0003647). The Project was built and operated in compliance with the Federal Energy Regulatory Commission (FERC) pilot project license (P-12711) and other permits and approvals needed for the Project. This report documents the methodologies, activities and results of the various phases of the Project, including design, engineering, procurement, assembly, installation, operation, licensing, environmental monitoring, retrieval, maintenance and repair. The Project represents a significant achievement for the renewable energy portfolio of the U.S. in general, and for the U.S. marine hydrokinetic (MHK) industry in particular. The stated Project goal was to advance, demonstrate and accelerate deployment and commercialization of ORPC’s tidal-current based hydrokinetic power generation system, including the energy extraction and conversion technology, associated power electronics, and interconnection equipment capable of reliably delivering electricity to the domestic power grid. ORPC achieved this goal by designing, building and operating the TidGen® Power System in 2012 and becoming the first federally licensed hydrokinetic tidal energy project to deliver electricity to a power grid under a power purchase agreement in North America. Located in Cobscook Bay between Eastport and Lubec, Maine, the TidGen® Power System was connected to the Bangor Hydro Electric utility grid at an on-shore station in North Lubec on September 13, 2012. ORPC obtained a FERC pilot project license for the Project on February 12, 2012 and the first Maine Department of Environmental Protection General Permit issued for a tidal energy project on January 31, 2012. In addition, ORPC entered into a 20-year agreement with Bangor Hydro Electric

  1. Gen IV Materials Handbook Functionalities and Operation

    Ren, Weiju

    2009-01-01

    This document is prepared for navigation and operation of the Gen IV Materials Handbook, with architecture description and new user access initiation instructions. Development rationale and history of the Handbook is summarized. The major development aspects, architecture, and design principles of the Handbook are briefly introduced to provide an overview of its past evolution and future prospects. Detailed instructions are given with examples for navigating the constructed Handbook components and using the main functionalities. Procedures are provided in a step-by-step fashion for Data Upload Managers to upload reports and data files, as well as for new users to initiate Handbook access.

  2. Gen IV. Technical and economical aspects

    Kaluzny, Y.; Legee, F.

    2010-01-01

    In this presentation author deals with development of nuclear reactor type of Generation IV. He concluded that: - Nuclear energy is competitive with regards to the other generation sources; Its competitiveness also increases with CO 2 cost. Considering the nuclear cost breakdown of LWR reactors, it turns out that the uranium is currently not in the range of a threshold for FBR deployment; - The global balance of uranium supply and demand and also innovation required to fulfil GEN IV objectives would probably imply the emergence of fast reactor competitiveness after the turn of the mid-century; - We shall need fast reactors in the coming decade.

  3. Gen IV Materials Handbook Functionalities and Operation

    Ren, Weiju [ORNL

    2009-12-01

    This document is prepared for navigation and operation of the Gen IV Materials Handbook, with architecture description and new user access initiation instructions. Development rationale and history of the Handbook is summarized. The major development aspects, architecture, and design principles of the Handbook are briefly introduced to provide an overview of its past evolution and future prospects. Detailed instructions are given with examples for navigating the constructed Handbook components and using the main functionalities. Procedures are provided in a step-by-step fashion for Data Upload Managers to upload reports and data files, as well as for new users to initiate Handbook access.

  4. Comparação entre dois testes de rastreamento do diabetes gestacional e o resultado perinatal Comparison between two gestational diabetes screening tests and the perinatal outcome

    Wilson Ayach

    2010-05-01

    Full Text Available OBJETIVO: comparar dois testes de rastreamento para diabetes e seus resultados com o resultado da gestação. MÉTODOS: no total, 279 pacientes foram submetidas a dois testes de rastreamento do diabetes gestacional - associação glicemia de jejum e fatores de risco (GJ + FR e o teste de tolerância à glicose simplificado (TTG50g. O rastreamento pela associação GJ + FR caracterizou-se pela dosagem da glicemia de jejum e anamnese para identificação dos fatores de risco na primeira consulta de pré-natal. O TTG50g foi realizado entre a 24ª e a 28ª semana de gestação e caracterizou-se pela dosagem das glicemias plasmáticas em jejum e uma hora após a sobrecarga oral com 50 g de glicose. Os resultados, positivo e negativo, foram relacionados ao resultado da gestação. Foram consideradas variáveis dependentes: via de parto, idade gestacional, peso e índice ponderal ao nascimento, índices de Apgar PURPOSE: to compare two screening tests for diabetes and their results to pregnancy outcomes. METHODS: in total, 279 pregnant women were submitted to two screening tests for gestational diabetes - fasting glycemia plus risk factors (FG + RF and to the simplified glucose tolerance test (GTT50g. Screening by FG + RF consisted of the determination of fasting glycemia and anamnesis for the identification of risk factors on the occasion of the first prenatal visit. The GTT50g was performed between the 24th and the 28th week of pregnancy and consisted of the determination of plasma glycemia under fasting conditions and one hour after an oral overload with 50 g glucose. Positive and negative results were compared to pregnancy outcome. The dependent variables were: type of delivery, gestational age, weight and ponderal index at birth, Apgar indexes <7 in the 1st and 5th minutes, need for admission to the Intensive Care Unit (ICU, duration of hospitalization, and neonatal death. Data were analyzed statistically through the Students t-test, and the level

  5. Prevalência e fatores associados ao ganho de peso gestacional excessivo em unidades de saúde do sudoeste da Bahia

    Elma Izze da Silva Magalhães

    2015-12-01

    Full Text Available RESUMO: Objetivo: Determinar a prevalência do ganho de peso semanal excessivo em gestantes e verificar a associação com fatores demográficos, socioeconômicos, obstétricos, antropométricos e comportamentais. Metodologia: Trata-se de um estudo transversal realizado com 328 gestantes assistidas em todas as unidades de saúde da zona urbana de Vitória da Conquista, Bahia. Os dados foram coletados no período de maio de 2010 a junho de 2011. O ganho de peso semanal foi avaliado de acordo com as recomendações atuais do Institute of Medicine (IOM. A associação entre os fatores em estudo e o ganho de peso semanal excessivo foi verificada nas gestantes, no segundo e terceiro trimestres, por meio da análise de regressão de Poisson com variância robusta. Resultados: A prevalência de ganho de peso semanal excessivo nas gestantes do segundo e terceiro trimestres foi de 42,5%. Os fatores determinantes do ganho ponderal semanal excessivo foram: renda familiar < 1 salário mínimo (RP: 2,65; IC95% 1,18 - 4,83 e estado nutricional pré-gestacional sobrepeso/obesidade (RP: 1,33; IC95% 1,01 - 1,75. Conclusão: Os resultados do estudo reforçam a importância do monitoramento do ganho de peso durante a gestação. A avaliação do ganho de peso semanal possibilita a realização de intervenções precoces visando a prevenção do ganho de peso total excessivo e suas consequências para a mãe e para a criança.

  6. Efecto de la ganancia de peso gestacional en la madre y el neonato The effect of gestational weight gain on maternal and neonatal outcomes

    Abraham Zonana-Nacach

    2010-06-01

    Full Text Available OBJETIVO: Evaluar el efecto de la ganancia de peso gestacional (GPG en la madre y el neonato. MATERIAL Y MÉTODOS: Se incluyeron 1 000 mujeres en puerperio inmediato atendidas en el Hospital de Ginecología del Instituto Mexicano del Seguro Social, en Tijuana, Baja California, México. Se consideró una GPG óptima si en las mujeres con bajo peso, peso normal, sobrepeso u obesidad previo al embarazo, la GPG fue OBJECTIVE: To evaluate the effects of gestational weight gain (GWG on maternal and neonatal outcomes. MATERIALS AND METHODS: During 2009, women in the immediate puerperium were assessed at the Gynecology and Obstetrics Hospital in Tijuana, Baja California, Mexico. GWG was considered optimal when < 18 kg, < 16 kg, < 11.5 kg and <9 kg for women who, before pregnancy, were underweight, normal weight, overweight and obese, respectively. RESULTS: A total of 38% of women gained more than the recommended weight during pregnancy Women with normal weight previous to pregnancy who exceeded gestational weight-gain recommendations had a risk of oligo/polyhydramnios (OR 2.1, CI 95% 1.04-4.2 and cesarean delivery; overweight women previous to pregnancy had an increased risk of preeclampsia (OR 2.2 CI 95% I.I-4.6 and newborn macrosomia (OR 2.5, CI 95% 1.1-5.6; and obese women had a risk of newborn macrosomía (OR 6.6 IC 95% I.8-23. Pre-pregnancy weight was more greatly associated with gestational diabetes than gestational weight gain. CONCLUSIONS: Women whose weight gain during pregnancy is outside of the recommended ranges had an increased risk of adverse obstetric and neonatal outcomes.

  7. Fatores de risco para doença trofoblástica gestacional persistente Risk factors for persistent gestational trophoblastic disease

    Daniel Guimarães Tiezzi

    2005-06-01

    Full Text Available OBJETIVOS: avaliar o impacto dos fatores de riscos na evolução para doença trofoblástica gestacional persistente (DTGP e selecionar grupos de pacientes para seguimento intensivo e os que poderiam se beneficiar de quimioterapia profilática. MÉTODOS: foram incluídas prospectivamente 214 pacientes com diagnóstico de mola hidatiforme completa (MHC submetidas a esvaziamento uterino no período de 1980 a 2001. Todas as pacientes foram seguidas semanalmente com avaliação clínica e dosagem de bHCG. Consideramos como DTGP as pacientes que necessitaram tratamento adicional além do esvaziamento uterino para a resolução do caso. Foram analisados parâmetros epidemiológicos (idade, antecedentes obstétricos, raça e tipagem sanguínea bem como indicadores de volume e agressividade da doença (volume uterino, presença de cistos teca-luteínicos e dosagem sérica de betaHCG. Os diversos fatores de risco foram avaliados isoladamente e em conjunto, sendo o risco expresso em odds ratio (OR. RESULTADOS: dentre os fatores epidemiológicos e características pessoais apenas a ausência do fator Rh foi significante (com OR de 2,3. Todos os sinais indicativos de hiperplasia do trofoblasto, representados pela altura uterina maior que a esperada para a idade gestacional, o volume uterino estimado pela ultra-sonografia, a presença de cistos teca-luteínicos e a dosagem sérica elevada de bHCG, estiveram associados ao risco de DTGP. A presença de pelo menos um destes achados mostrou sensibilidade de 82% e valor preditivo positivo de 35,1% (OR 4,8. A regressão logística identificou os parâmetros altura uterina maior que o esperado para a idade gestacional e os níveis séricos de betaHCG como fatores de risco para DTGP com OR de 4,1 e 5,5, respectivamente. CONCLUSÕES: os sinais de hiperplasia do trofoblasto apresentam boa sensibilidade na predição de DTGP, no entanto o baixo valor preditivo positivo impede que se empreguem estes fatores para

  8. Diet folate, DNA methylation and genetic polymorphisms of MTHFR C677T in association with the prognosis of esophageal squamous cell carcinoma

    Lu, Cheng; Xie, Hui; Wang, Fengliang; Shen, Hongbing; Wang, Jianming

    2011-01-01

    Folic acid may affect the development of human cancers. However, few studies have evaluated the consumption of diet folate in the prognosis of patients with esophageal squamous cell carcinoma (ESCC). One hundred and twenty five ESCC patients underwent esophagectomy between January 2005 and March 2006 in the Yangzhong People's Hospital were recruited and followed up. The effects of diet folate, aberrant DNA methylation of selected genes and methylenetetrahydrofolate reductase (MTHFR) C677T genetic polymorphisms on the prognosis of ESCC were evaluated by using Cox proportional hazard regression models. Our analysis showed an inverse association between diet folate intake and the risk of death after esophagectomy. The median survival time was 3.06 years for low or moderate folate consumption and over 4.59 years for high folate consumption. After adjusting for potential confounders, the hazard ratios (95% confidence interval) [HRs (95% CI)] were 0.72 (0.36-1.46) for moderate and 0.39 (0.20-0.78) for high folate intake, respectively (P for trend = 0.007). This preventive effect was more evident in patients carrying MTHFR 677CC genotype. No significant relation was observed between aberrant DNA methylation of P16, MGMT and hMLH1 gene, as well as MTHFR C677T genetic polymorphisms and the prognosis of ESCC. Our research indicated that diet folate intake may have benefits on the prognosis of ESCC after esophagectomy. From a practical viewpoint, the findings of our study help to establish practical intervention and surveillance strategies for managements of ESCC patients and can finally decrease the disease burden

  9. Association between C677T and A1298C polymorphisms of the MTHFR gene and risk of male infertility: a meta-analysis.

    Yang, Y; Luo, Y Y; Wu, S; Tang, Y D; Rao, X D; Xiong, L; Tan, M; Deng, M Z; Liu, H

    2016-04-26

    Published studies on the association between the C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene and male infertility risk are controversial. To obtain a more precise evaluation, we performed a meta-analysis based on published case-control studies. We conducted an electronic search of PubMed, EMBASE, the Cochrane Library, the Web of Science, and the China Knowledge Resource Integrated Database for papers on MTHFR gene C677T and A1298C polymorphisms and male infertility risk. Pooled odds ratios (ORs) with 95% confidence intervals (95%CIs) were used to assess the strength of association in homozygote, heterozygote, dominant, recessive, and additive models. Statistical heterogeneity, test of publication bias, and sensitivity analysis were carried out using the STATA software (Version 13.0). Overall, 21 studies of C677T (4505 cases and 4024 controls) and 13 studies of A1298C (2785 cases and 3094 controls) were included in this meta-analysis. For C677T, the homozygote comparison results were OR = 1.629, 95%CI (1.215- 2.184), and the recessive model results were OR = 1.462 (1.155- 1.850). For A1298C, the homozygote comparison results were OR = 1.289 (1.029-1.616), and the recessive model results were OR = 1.288 (1.034-1.604). In conclusion, the current meta-analysis showed that the MTHFR C677T polymorphism was associated with a significantly increased male infertility risk in the Asian and overall populations, but not in the Caucasian population, and there was a significant association between the A1298C polymorphism and male infertility risk in the Asian, Caucasian, and overall groups.

  10. Towards an International Culture: Gen Y Students and SNS?

    Lichy, Jessica

    2012-01-01

    This article reports the findings of a small-scale investigation into the Internet user behaviour of generation Y (Gen Y) students, with particular reference to social networking sites. The study adds to the literature on cross-cultural Internet user behaviour with specific reference to Gen Y and social networking. It compares how a cohort of…

  11. The rs4846049 polymorphism in the 3’UTR region of the MTHFR gene increases the migraine susceptibility in an Iranian population

    Salehi M

    2018-01-01

    Full Text Available Mohaddeseh Salehi,1,* Mona Amin-Beidokhti,2,* Behnam Safarpour Lima,3 Milad Gholami,2 Gholam-Reza Javadi,1 Reza Mirfakhraie2,4 1Department of Biology, Islamic Azad University, Science and Research Branch, 2Department of Medical Genetics, 3Department of Neurology, School of Medicine, 4Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran *These authors contributed equally to this work Introduction: Migraine is a painful complex neurovascular disease characterized by recurrent moderate-to-severe headaches. Increased level of homocysteine is related to dilation of cerebral vessels and endothelial injury that could trigger migraine attacks. Functional polymorphisms in the MTHFR gene affect homocysteine metabolism and, therefore, play an important role in the etiology of the disease. Objectives: We aimed to investigate the possible association between MTHFR gene rs4846049, C677T, and A1298C polymorphisms and the risk of migraine in Iranian population. Methods: In this genetic association study, 498 individuals were enrolled, including 223 migraine patients and 275 healthy controls. Genotyping was performed using tetra-primer ARMS-PCR for rs4846049 and PCR-restriction fragment length polymorphism for C677T and A1298C polymorphisms. Results: The association between rs4846049 and C677T polymorphisms and migraine was observed. For the rs4846049 polymorphism, the association was detected under a dominant model (P=0.007; odds ratio [OR] =0.60; 95% confidence interval [CI], 0.41–0.87, and for the C677T polymorphism, the TT genotype frequency was significantly different in the studied groups (P=0.009; OR =2.48; 95% CI, 1.25–4.92. No significant differences in the genotype or allele frequencies were found for the A1298C polymorphism between the migraineurs and controls. Conclusion: Present data provide evidence for the association of rs4846049 and C677T polymorphisms in the MTHFR gene and migraine. Further studies are

  12. MTHFR Glu429Ala and ERCC5 His46His polymorphisms are associated with prognosis in colorectal cancer patients: analysis of two independent cohorts from Newfoundland.

    Amit A Negandhi

    Full Text Available In this study, 27 genetic polymorphisms that were previously reported to be associated with clinical outcomes in colorectal cancer patients were investigated in relation to overall survival (OS and disease free survival (DFS in colorectal cancer patients from Newfoundland.The discovery and validation cohorts comprised of 532 and 252 patients, respectively. Genotypes of 27 polymorphisms were first obtained in the discovery cohort and survival analyses were performed assuming the co-dominant genetic model. Polymorphisms associated with disease outcomes in the discovery cohort were then investigated in the validation cohort.When adjusted for sex, age, tumor stage and microsatellite instability (MSI status, four polymorphisms were independent predictors of OS in the discovery cohort MTHFR Glu429Ala (HR: 1.72, 95%CI: 1.04-2.84, p = 0.036, ERCC5 His46His (HR: 1.78, 95%CI: 1.15-2.76, p = 0.01, SERPINE1 -675indelG (HR: 0.52, 95%CI: 0.32-0.84, p = 0.008, and the homozygous deletion of GSTM1 gene (HR: 1.4, 95%CI: 1.03-1.92, p = 0.033. In the validation cohort, the MTHFR Glu429Ala polymorphism was associated with shorter OS (HR: 1.71, 95%CI: 1.18-2.49, p = 0.005, although with a different genotype than the discovery cohort (CC genotype in the discovery cohort and AC genotype in the validation cohort. When stratified based on treatment with 5-Fluorouracil (5-FU-based regimens, this polymorphism was associated with reduced OS only in patients not treated with 5-FU. In the DFS analysis, when adjusted for other variables, the TT genotype of the ERCC5 His46His polymorphism was associated with shorter DFS in both cohorts (discovery cohort: HR: 1.54, 95%CI: 1.04-2.29, p = 0.032 and replication cohort: HR: 1.81, 95%CI: 1.11-2.94, p = 0.018.In this study, associations of the MTHFR Glu429Ala polymorphism with OS and the ERCC5 His46His polymorphism with DFS were identified in two colorectal cancer patient cohorts. Our results also suggest

  13. Analysis of Polymorphisms in Genes (AGT, MTHFR, GPIIIa, and GSTP1 Associated with Hypertension, Thrombophilia and Oxidative Stress in Mestizo and Amerindian Populations of México

    Rocio Juárez-Velázquez

    2010-01-01

    Full Text Available Several polymorphisms related to hypertension, thrombophilia, and oxidative stress has been associated with the development of cardiovascular disease. We analyzed the frequency of M235T angiotensinogen (AGT, A222V 5,10 methylenete-trahydrofolate reductase (MTHFR, L33P glycoprotein IIIa (GPIIIa, and I105V glutathione S-transferase P1 (GSTP1 polymorphisms in 285 individuals belonging to Mexican-Mestizo and five Amerindian population from México, by real time PCR allelic discrimination. Allele and genotype frequencies were compared using χ2 tests.

  14. Association study of folate-related enzymes (MTHFR, MTR, MTRR genetic variants with non-obstructive male infertility in a Polish population

    Mateusz Kurzawski

    2015-03-01

    Full Text Available Spermatogenesis is a process where an important contribution of genes involved in folate-mediated one-carbon metabolism is observed. The aim of the present study was to investigate the association between male infertility and the MTHFR (677C > T; 1298A > C, MTR (2756A > G and MTRR (66A > G polymorphisms in a Polish population. No significant differences in genotype or allele frequencies were detected between the groups of 284 infertile men and of 352 fertile controls. These results demonstrate that common polymorphisms in folate pathway genes are not major risk factors for non-obstructive male infertility in the Polish population.

  15. Resultados de la validación del formulario nacional de auditoría de sífilis gestacional y congénita en el Centro Hospitalario Pereira Rossell

    Quiñones, Patricia; Franciulli, Agustina; Greif, Diego; Fiol, Verónica; Nozar M, María Fernanda; Visconti, Ana; Cabrera, Susana

    2014-01-01

    Introducción: la sífilis es una infección de transmisión sexual en aumento en el mundo y en nuestro medio, a pesar de ser una enfermedad evitable, diagnosticable y curable, tanto en el embarazo como en el período posnatal. Objetivo: validar el formulario nacional de auditoría de sífilis gestacional y congénita. Establecer un panorama actual del estado de sífilis en el Centro Hospitalario Pereira Rossell (CHPR). Material y método: estudio descriptivo transversal. Consiste en la realización del...

  16. Smoking and other pre-gestational risk factors for spontaneous preterm birth Tabagismo e outros fatores de risco pré-gestacional para nascimento espontâneo prematuro

    Eugênio Grillo

    2011-12-01

    Full Text Available OBJECTIVES: to investigate pre-gestational risk factors for spontaneous preterm birth and, the role of smoking and its cumulative effects on prematurity. METHODS: a case-control study analyzed a data set of all births occurring in a tertiary maternity hospital between April 2002 and July 2004. Spontaneous preterm births of single and live newborns without malformations were selected as cases. Controls were all the term births of live and single newborns without malformations during the same period. Three outcomes were studied: all preterm births (OBJETIVOS: investigar fatores de risco pré-gestacional para nascimento espontâneo prematuro e o papel do tabagismo e seus efeitos cumulativos na prematuridade. MÉTODOS: um estudo transversal baseado em um banco de dados maternos e perinatais, analisou todos os nascimentos ocorridos, em um hospital terciário, no período de abril de 2002 a julho de 2004. Nascimentos prematuros, únicos e espontâneos, de nascidos vivos, sem malformações, foram selecionados como casos. Controles foram selecionados como nascidos vivos e a termo, únicos e sem malformações durante o mesmo período. Três desfechos foram estudados: todos nascimentos prematuros com menos de 37 semanas, aqueles com menos de 35 e 32 semanas de gestação. Regressão Logística foi utilizada na determinação do efeito independente de cada um dos fatores de risco. RESULTADOS: idade materna de menos de 20 anos, baixa escolaridade, baixo índice de massa corporal pré-gestacional e tabagismo se mostraram independente e significativamente associados com nascimento espontâneo e prematuro para os três desfechos. Para todos os fatores de risco, exceto tabagismo materno, as razões de chance aumentaram linearmente com o decréscimo da idade gestacional. O teste para tendência linear se mostrou significante para idade materna de menos de 20 anos e para baixo índice de massa corporal pré-gestacional. CONCLUSÕES: os efeitos cumulativos do

  17. Evolución del metabolismo hidrocarbonado a 5 años tras Diabetes Gestacional y su relación con factores predictores de diabetes al año del parto

    Rando Nagera, Eduvigis

    2017-01-01

    Introducción Definimos la Diabetes Gestacional(DG) “como cualquier intolerancia hidrocarbonada, de gravedad variable, con comienzo o primer reconocimiento durante el embarazo independientemente del tratamiento y de la evolución”. La incidencia de DG y de Diabetes mellitus tipo 2(DM) está aumentando en todo el mundo. La DG se estima alrededor del 8,8% . El desarrollo de DG en una gestación conlleva complicaciones(materno-fetales y posparto: recurrencia de DG, disglucemias como glucemia b...

  18. RELACIÓN ENTRE LA ANEMIA GESTACIONAL EN LA ALTURA DETECTADO EN EL I TRIMESTRE Y LOS RESULTADOS PERINATALES. HOSPITAL DANIEL ALCIDES CARRIÓN PASCO. AÑO 2015

    Rios Bernardo, Cledy Ruperta

    2017-01-01

    Objetivo: Determinar la relación entre la anemia gestacional en la altura detectado en el I trimestre y los resultados perinatales. Hospital Daniel Alcides Carrión – Pasco. Año 2015. Método de Estudio: Deductivo; diseño descriptivo de nivel relacional, tipo retrospectivo, de cohorte transversal; la población estudiada estuvo constituida por 44 gestantes. Resultados: 1. La edad más frecuente 18 años, el 86% procedente de la zonas distritales, con estudios de secundaria en el 64% y 73% co...

  19. Association of vdr, cyp27b1, cyp24a1 and mthfr gene polymorphisms with oral lichen planus risk.

    Kujundzic, Bojan; Zeljic, Katarina; Supic, Gordana; Magic, Marko; Stanimirovic, Dragan; Ilic, Vesna; Jovanovic, Barbara; Magic, Zvonko

    2016-05-01

    The current study investigated the association between VDR EcoRV (rs4516035), FokI (rs2228570), ApaI (rs7975232) and TaqI (rs731236), CYP27B1 (rs4646536), CYP24A1 (rs2296241), and MTHFR (rs1801133) gene polymorphisms and risk of oral lichen planus (OLP) occurrence. The study group consisted of 65 oral lichen planus patients and 100 healthy blood donors in the control group. Single nucleotide polymorphisms were genotyped by real time PCR or PCR-restriction fragment length polymorphism (RFLP) method. Heterozygous as well as mutated genotype of vitamin D receptor (VDR) FokI (rs2228570) polymorphism was associated with increased oral lichen planus risk in comparison with wild type genotype (odds ratio (OR) = 3.877, p = 0.017, OR = 38.153, p = 0.001, respectively). A significantly decreased OLP risk was observed for heterozygous genotype of rs2296241 polymorphism in CYP24A1 gene compared with the wild type form (OR = 0.314, p = 0.012). VDR gene polymorphisms ApaI and TaqI were in linkage disequilibrium (D' = 0.71, r(2) = 0.22). Identified haplotype AT was associated with decreased OLP risk (OR = 0.592, p = 0.047). Our results highlight the possible important role of VDR FokI (rs2228570) and CYP24A1 rs2296241 gene polymorphisms for oral lichen planus susceptibility. Identification of new molecular biomarkers could potentially contribute to determination of individuals with OLP predisposition.

  20. Factors Influencing Retention of Gen Y and Non-Gen Y Teachers Working at International Schools in Asia

    Fong, Hoi Wah Benny

    2018-01-01

    Quantitative studies on international-school teacher retention are few, especially studies that differentiate between Gen Y and non-Gen Y teachers. This article reports on the findings of a study that examined the relationship of job satisfaction factors to the likelihood of contract renewal by international-school teachers. Results from the study…

  1. Heat and power from MicroGen

    Anon.

    1999-10-01

    This paper reports on the design of a domestic gas-fired cogeneration system developed to replace the central heating boiler. Technical details of the MicroGen demonstration unit are given, and the use of a Linear Free Piston Stirling Engine as the prime mover, and the results of modelling studies of energy demand indicating cost savings compared to conventional boilers are discussed. The enhancement of the benefits of micro-cogeneration through use of thermal and power storage and energy demand management, and the impact of micro-cogeneration on energy use in the home are considered. The UK and European Commission's targets for increased cogeneration capacity are noted.

  2. NextGen Future Safety Assessment Game

    Ancel, Ersin; Gheorghe, Adrian; Jones, Sharon Monica

    2011-01-01

    The successful implementation of the next generation infrastructure systems requires solid understanding of their technical, social, political and economic aspects along with their interactions. The lack of historical data that relate to the long-term planning of complex systems introduces unique challenges for decision makers and involved stakeholders which in turn result in unsustainable systems. Also, the need to understand the infrastructure at the societal level and capture the interaction between multiple stakeholders becomes important. This paper proposes a methodology in order to develop a holistic approach aiming to provide an alternative subject-matter expert (SME) elicitation and data collection method for future sociotechnical systems. The methodology is adapted to Next Generation Air Transportation System (NextGen) decision making environment in order to demonstrate the benefits of this holistic approach.

  3. The GenDev Curriculum Development Workshop.

    D'cunha, J

    1997-01-01

    This article describes the second Curriculum Development Workshop held in May 1997 at the Asian Institute of Technology (AIT) in Bangkok, Thailand. The workshop aimed to review critically and restructure the Gender and Development Studies (GenDev) curriculum and to assess AIT's role in training gender experts for the region. Participants included 22 people from 16 countries in Asia, Europe, and the US who were teaching graduate students about gender issues and who were activists with nongovernmental organizations working on gender issues. It was determined that the following were required courses: Culture, Knowledge and Gender Relations; Gender, Technology, and Development; Principles of Gender Research and Methodology in Science and Technology; and Gender Analysis and Field Methods. Other suggested core courses included: Gender and Natural Resource Management; Enterprise Management, Technology, and Gender; Gender and Agrarian Reform; Urbanization: A Gender Perspective; Gender-Responsive Development Planning; and Gender and Economic Change: Past and Present Concerns. Participants distinguished between GenDev courses offered to anyone attending AIT and training courses designed to produce gender experts in the region. The aim of training courses for AIT graduate students was to sensitize potential managers, technologists, and others on gender issues and to create awareness of the importance of including gender perspectives within decision-making, policy formation, and implementation. Training courses to produce gender experts should be directed to those with a prior background in gender studies and include gender analysis in field methods. Participants agreed that there should be an independent and autonomous field of gender and development studies. Participants made six recommendations for such a field of study.

  4. Cardiotocografia computadorizada em gestações complicadas pelo diabete melito pré-gestacional: padrões da freqüência cardíaca em fetos grandes para a idade gestacional Computerized cardiotocography in pregnancies complicated by pregestational diabetes mellitus: heart rate patterns in large for gestational age fetuses

    Roseli Mieko Yamamoto Nomura

    2005-12-01

    Full Text Available OBJETIVO: verificar os padrões da freqüência cardíaca de fetos grandes para a idade gestacional (GIG, em gestantes com diabete melito pré-gestacional. MÉTODOS: sessenta e quatro gestantes diabéticas pré-gestacionais foram avaliadas semanalmente quanto à vitalidade fetal. Os critérios de inclusão foram: diagnóstico pré-gestacional de diabetes melito, gestação única, feto vivo, ausência de anomalia fetal e cardiotocografia computadorizada realizada na 37ª semana. Os critérios de exclusão foram: diagnóstico pós-natal de anomalia fetal e parto não realizado na instituição. Os padrões da freqüência cardíaca fetal (FCF foram investigados pela cardiotocografia computadorizada (Sistema-8002 Sonicaid. Os parâmetros foram analisados de acordo com a classificação pela adequação do peso do recém-nascido em GIG (acima do percentil 90 para a idade gestacional. Os parâmetros cardiotocográficos incluíram: FCF basal, acelerações, episódios de alta variação, episódios de baixa variação e variação de curto prazo. RESULTADOS: do total, 42 pacientes preencheram os critérios propostos. Houve 10 recém-nascidos GIG (23,8%. A cardiotocografia apresentou resultado normal em todos os casos. As acelerações da FCF (superiores a 15 bpm estavam presentes em 7 (70% dos casos GIG e em 29 (90,6% dos casos não GIG (p=0,135. A freqüência dessas acelerações foi maior no grupo não GIG (1,5±1,3 acelerações/10 min quando comparado ao grupo GIG (0,8±0,9 acelerações/10 min, p=0,04, teste de Mann-Whitney. Os episódios de alta variação foram detectados em todos os casos. A média da variação nesses episódios foi diferente no grupo GIG (16,2±2,5 bpm quando comparado ao não GIG (19,7±4,2 bpm, p=0,02, teste de Mann-Whitney. CONCLUSÕES: os padrões da FCF verificados em fetos não GIG (maior freqüência de acelerações e a maior variação da FCF em episódios de alta variação refletem parâmetros comumente

  5. Geographical and Ethnic Distributions of the MTHFR C677T, A1298C and MTRR A66G Gene Polymorphisms in Chinese Populations: A Meta-Analysis.

    Xingmin Wang

    Full Text Available The geographical and ethnic distributions of the polymorphic methylenetetrahydrofolate reductase (MTHFR mutations (C677T and A1298C and methionine synthase reductase (MTRR mutation (A66G remain heterogeneous in China. The goal of this study was to estimate the pooled frequencies of the alleles and associated genotypes of these gene polymorphisms among healthy populations in Mainland China.We systematically reviewed published epidemiological studies on the distributions of 3 genetic variants in Chinese healthy populations living in Mainland China through a meta-analysis. The relevant electronic databases were searched. All of the raw data of the eligible citations were extracted. The frequency estimates were stratified by geography, ethnicity and sex.Sixty-six studies were identified with a total of 92277 study participants. The meta-analysis revealed that the frequencies of the MTHFR C677T, A1298C, and MTRR A66G gene polymorphisms varied significantly between different ethnic groups and along geographical gradients. The frequencies of the 677T allele and 677TT genotype increased along the southern-central-northern direction across Mainland China (all Pvalues≤0.001. The frequencies of the 1298C, 1298CC, 66G and 66GG genotypes decreased along the south-central-north direction across the country (all Pvalues≤0.001.Our meta-analysis strongly indicates significant geographical and ethnic variations in the frequencies of the C677T, A1298C, and A66G gene polymorphisms in the folate metabolism pathway among Chinese populations.

  6. Enfartes Esplénicos – quando a etiologia é multifactorial: Mutação do gene MTHFR e Trombocitose Essencial

    Marta Pereira

    2016-06-01

    Full Text Available INTRODUCTION: Essential thrombocythemia (ET is a rare chronic myeloproliferative disease associated with an increased risk of thrombotic events in up to 50% of all patients. In patients with hyperhomocysteinemia associated with MTHFR mutation in homozigozity, the risk for thrombotic events is increased in 1-2%. Therefore, the coexistence of these two clinical entities causes an exponential rise in the risk for ischemic phenomena. CASE REPORT: A 56-year-old male, a smoker with previously known dyslipidemia and cerebrovascular disease was admitted to our hospital for epigastric and left hypochondrium pain for two months. Imagiological studies showed splenomegaly and several lesions suggestive of splenic infarction. Laboratory studies revealed leukocytosis (12900/μL, thrombocythemia (570x103/μL, reduced folic acid levels (0.90 ng/mL and hyperhomocysteinemia (42.5 μmol/L. MTHFR c.677C>T mutation was positive (homozygous. His bone marrow showed characteristics suggestive of ET and JAK2 V612F was positive (heterozygous with bcr-abl mutation negative. Aspirine and hydroxyurea were started as well as vitaminic supplementation, with good response. DISCUSSION: The present case reflects the association between two unusual clinical entities, in which thrombotic phenomena are very common, particularly in the vascular territorries involved in this patient. We highlight the importance of a quick diagnosis and treatment, the main keys for a survival rate similar to the general population.

  7. Incidence Assessment of MTHFR C677T and A1298C Polymorphisms in Iranian Non-syndromic Cleft Lip and/or Palate Patients

    Asghar Ebadifar

    2015-06-01

    Full Text Available Background and aims. The aim of the present study is to determine the incidence of MTHFR C677 T and A1298C muta-tions in Iranian patients with cleft lip and/or cleft palate. Materials and methods. We screened 61 Iranian patients with cleft lip and/or cleft palate for mutations in the two alleles of MTHFR gene associated with cleft lip and/or palate: A1298C and C677T, using Polymerase Chain Reaction following by RFLP. Results. The 677T and 1298C homozygote genotypes showed a frequency of 36.1% and 11.4%, respectively. Combined genotype frequencies in newborns having oral clefts showed that the highest genotype was 677TT/1298AA (22.9% and 677TT/1298CC genotypes were not observed. Conclusion. The results showed that 65.6% of all patients had at least one T mutant allele in C677T and 58.9% C mutant allele for A1298C. According to the frequencies of homozygosity of mutant alleles, it could be said that MTHFRgenotype of 677TT shows a greater role in having oral clefts.

  8. Determinación del polimorfismo C677T de metilentetrahidrofolato reductasa (MTHFR en una población piloto de estudiantes de la Universidad del Rosario

    María Martínez-Agüero

    2010-04-01

    Full Text Available Introduction: the 5, 10-methylenetetrahydrofolate reductase (MTHFR is an essential enzyme in folate metabolism; their polymorphisms have been associated with heart disease risk increase, obstetric problems,neural tube defects in fetuses and cancer susceptibility. This genehas a single nucleotide polymorphism, a C-T change at nucleotide 677, which affects significantly its enzymatic activity. Objective: because of the biological importance of this enzyme and the Colombian population genetic heterogeneity characteristic, a study was performed to determine allele and genotype frequencies of MTHFR C677Tpolymorphism in healthy individuals, taking into account that in Colombia there are only studies that have involved casecontrol methodology. Methods: we analyzed this polymorphism trough the amplification of the DNA of a 206 students sample population.Additionally, Colombian overall frequencies were calculated, usingdata from healthy controls reported in other studies. Results: aHardy-Weinberg disequilibrium was found in the sample tested. For theColombian data, we found that the global population was in equilibrium. Conclusion: T allele population frequency seems to beunder positive selection pressure, which is reflected inthe population allele increase, despite its deleterious effect. ASpanish study reported similar results and identified folic acidsupplementation on expectant mothers as a probably cause of thischange.

  9. Evaluation of gestational diabetes mellitus risk in South Indian women based on MTHFR (C677T and FVL (G1691A mutations

    Imran Ali Khan

    2015-05-01

    Full Text Available We aimed to scrutinize the extent to which single amino acid substitutions in the MTHFR and FVL genes affect the risk of GDM in pregnant women of South Indian descendant. This case-control study was implemented once the ethical approval has been obtained. Overall 237 women were recruited in this study: 137 had been diagnosed with GDM and the remaining 100 women were used as normal controls or non-GDM. The diagnosis of GDM was confirmed with biochemical analysis i.e., GCT and OGTT tests. Five milliliters of peripheral blood was collected and used for biochemical and molecular analyses. DNA was isolated and genotyping for MTHFR (C677T and FVL (G1691A mutations was performed using PCR-RFLP. FVL (G1691A locus was not polymorphic in the investigated sample. There was no significant difference in the allele and genotype frequencies of C677T polymorphism between GDM and non-GDM women (p=0.8892

  10. Supplementation with Watermelon Extract Reduces Total Cholesterol and LDL Cholesterol in Adults with Dyslipidemia under the Influence of the MTHFR C677T Polymorphism.

    Massa, Nayara M L; Silva, Alexandre S; de Oliveira, Caio V C; Costa, Maria J C; Persuhn, Darlene C; Barbosa, Carlos V S; Gonçalves, Maria da C R

    2016-08-01

    Dyslipidemia and genetic polymorphisms are associated with increased risk for developing cardiovascular diseases, and watermelon appears to have the potential to improve hyperlipidemia due to the presence of nutrients such as arginine and citrulline. To test the hypolipidemic effect of watermelon extract (Citrullus lanatus) and the influence of the methylenetetrahydrofolate reductase genotype (MTHFR C677T) on supplementation response. This is an experimental clinical phase II randomized and double-blind study. Forty-three subjects with dyslipidemia were randomly divided into 2 groups: experimental (n = 22) and control (n = 21) groups. The subjects were supplemented daily for 42 days with 6 g of watermelon extract or a mixture of carbohydrates (sucrose/glucose/fructose). The use of watermelon extract reduced plasma total cholesterol (p watermelon extract in reducing plasma levels of lipids in humans. The MTHFR C677T polymorphism did not affect the plasma lipid concentration but made individuals more responsive to treatment with watermelon. The consumption of this functional food represents an alternative therapy in the combined treatment of patients with dyslipidemia, promoting health and minimizing the development of risk factors for cardiovascular diseases.

  11. 677C to T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and plasma homocyst(e)ine levels in patients with TIA or minor stroke.

    Lalouschek, W; Aull, S; Korninger, L; Mannhalter, C; Pabinger-Fasching, I; Schmid, R W; Schnider, P; Zeiler, K

    1998-03-05

    It was the aim of this study to determine the associations of clinical and laboratory data with plasma homocyst(e)ine levels in patients with transient ischemic attack (TIA) or minor stroke (MS), with special reference to their 677C to T mutation status in the 5,10-methylenetetrahydrofolate reductase (5,10-MTHFR) gene. Seventy-six patients with TIA or MS were investigated at least 3 months after their (last) clinical event. By means of univariate analysis, significant correlations of homocyst(e)ine levels with male gender (Pine levels. After adjustment for age, creatinine levels and homocyst(e)ine levels remained significantly correlated to each other (Pine levels was no longer significant (P=0.10). Mutation-positive patients exhibited moderately and statistically non-significantly higher homocyst(e)ine levels than mutation-negative patients, particularly those who were homozygous positive. Homocyst(e)ine levels were closely correlated with creatinine levels (Pine levels in patients with TIA or MS are dependent on the 5,10-MTHFR mutation status. Significant correlations between these variables were found only in mutation-positive but not in mutation-negative patients.

  12. Genetic effect of MTHFR C677T polymorphism on the structural covariance network and white-matter integrity in Alzheimer's disease.

    Chang, Yu-Tzu; Hsu, Shih-Wei; Tsai, Shih-Jen; Chang, Ya-Ting; Huang, Chi-Wei; Liu, Mu-En; Chen, Nai-Ching; Chang, Wen-Neng; Hsu, Jung-Lung; Lee, Chen-Chang; Chang, Chiung-Chih

    2017-06-01

    The 677 C to T transition in the MTHFR gene is a genetic determinant for hyperhomocysteinemia. We investigated whether this polymorphism modulates gray matter (GM) structural covariance networks independently of white-matter integrity in patients with Alzheimer's disease (AD). GM structural covariance networks were constructed by 3D T1-magnetic resonance imaging and seed-based analysis. The patients were divided into two genotype groups: C homozygotes (n = 73) and T carriers (n = 62). Using diffusion tensor imaging and white-matter parcellation, 11 fiber bundle integrities were compared between the two genotype groups. Cognitive test scores were the major outcome factors. The T carriers had higher homocysteine levels, lower posterior cingulate cortex GM volume, and more clusters in the dorsal medial lobe subsystem showing stronger covariance strength. Both posterior cingulate cortex seed and interconnected peak cluster volumes predicted cognitive test scores, especially in the T carriers. There were no between-group differences in fiber tract diffusion parameters. The MTHFR 677T polymorphism modulates posterior cingulate cortex-anchored structural covariance strength independently of white matter integrities. Hum Brain Mapp 38:3039-3051, 2017. © 2017 The Authors Human Brain Mapping Published Wiley by Periodicals, Inc. © 2017 The Authors Human Brain Mapping Published Wiley by Periodicals, Inc.

  13. Metode Transfer Asam Nukleat sebagai Dasar Terapi Gen

    Novi Silvia Hardiany

    2017-01-01

    Full Text Available Kemajuan ilmu biologi molekuler memberikan manfaat dalam bidang kedokteran untuk mengembangkanterapi gen. Tujuan terapi gen adalah untuk memperbaiki kerusakan gen atau mengganti gen yang rusakdengan gen yang normal. Pemindahan gen dilakukan dengan teknik transfeksi. Transfeksi merupakanproses pemindahan asam nukleat baik menggunakan vektor virus (transduksi atau menggunakan metodenonviral yaitu zat kimia, lipid dan metode fisik. Vektor virus yang digunakan pada transduksi adalahretrovirus, adenovirus, adeno-associated virus (AAV dan herpes simplex virus (HSV. Keberhasilantransfeksi ditentukan oleh berbagai faktor yang dapat dapat dinilai dengan menggunakan reporter sepertigreen fluorescence protein (GFP. Kata Kunci: terapi gen, transfeksi non viral, transduksi, vektor virus   Methods of Nucleic Acid Transfer as Basic Gene Therapy Abstract The advancement of molecular biology provides benefit in the field of medicine to develop genetherapy. The aim of gene therapy is to repair the genetic damage or to replace damaged gene with thenormal gene. Delivery of gene is carried out by transfection technique, a technique to transfer nucleic acidinto eukaryote cells either using viral vectors (known as transduction, and also using non viral methodsuch as chemical substance, lipid and physical method. Some of the viral vectors used in the transductionare retrovirus, adenovirus, Adeno-associated virus (AAV and Herpes Simplex Virus (HSV. The success oftransfection is determined by various factors which can be assessed using several reporters such as GreenFluorescence Protein (GFP. Key words: gene therapy, non viral transfection, transduction, viral vector. Normal 0 false false false IN X-NONE X-NONE

  14. Association of PHB 1630 C > T and MTHFR 677 C > T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

    Jakubowska, A.; Rozkrut, D.; Antoniou, A.; Hamann, U.; Scott, R. J.; McGuffog, L.; Healy, S.; Sinilnikova, O. M.; Rennert, G.; Lejbkowicz, F.; Flugelman, A.; Andrulis, I. L.; Glendon, G.; Ozcelik, H.; Thomassen, M.; Paligo, M.; Aretini, P.; Kantala, J.; Aroer, B.; Von Wachenfeldt, A.; Liljegren, A.; Loman, N.; Herbst, K.; Kristoffersson, U.; Rosenquist, R.; Karlsson, P.; Stenmark-Askmalm, M.; Melin, B.; Nathanson, K. L.; Domchek, S. M.; Byrski, T.; Huzarski, T.; Gronwald, J.; Menkiszak, J.; Cybulski, C.; Serrano, P.; Osorio, A.; Cajal, T. R.; Tsitlaidou, M.; Benítez, J.; Gilbert, M.; Rookus, M.; Aalfs, C. M.; Kluijt, I.; Boessenkool-Pape, J. L.; Meijers-Heijboer, H. E. J.; Oosterwijk, J. C.; van Asperen, C. J.; Blok, M. J.; Nelen, M. R.; van den Ouweland, A. M. W.; Seynaeve, C.; van der Luijt, R. B.; Devilee, P.; Easton, D. F.; Peock, S.; Frost, D.; Platte, R.; Ellis, S. D.; Fineberg, E.; Evans, D. G.; Lalloo, F.; Eeles, R.; Jacobs, C.; Adlard, J.; Davidson, R.; Eccles, D.; Cole, T.; Cook, J.; Godwin, A.; Bove, B.; Stoppa-Lyonnet, D.; Caux-Moncoutier, V.; Belotti, M.; Tirapo, C.; Mazoyer, S.; Barjhoux, L.; Boutry-Kryza, N.; Pujol, P.; Coupier, I.; Peyrat, J.-P.; Vennin, P.; Muller, D.; Fricker, J.-P.; Venat-Bouvet, L.; Johannsson, O. Th; Isaacs, C.; Schmutzler, R.; Wappenschmidt, B.; Meindl, A.; Arnold, N.; Varon-Mateeva, R.; Niederacher, D.; Sutter, C.; Deissler, H.; Preisler-Adams, S.; Simard, J.; Soucy, P.; Durocher, F.; Chenevix-Trench, G.; Beesley, J.; Chen, X.; Rebbeck, T.; Couch, F.; Wang, X.; Lindor, N.; Fredericksen, Z.; Pankratz, V. S.; Peterlongo, P.; Bonanni, B.; Fortuzzi, S.; Peissel, B.; Szabo, C.; Mai, P. L.; Loud, J. T.; Lubinski, J.; Peock, Susan; Frost, Debra; Platte, Radka; Ellis, Steve D.; Fineberg, Elena; Miedzybrodzka, Zosia; Gregory, Helen; Morrison, Patrick; Jeffers, Lisa; Cole, Trevor; Ong, Kai-Ren; Hoffman, Jonathan; Donaldson, Alan; James, Margaret; Paterson, Joan; Downing, Sarah; Taylor, Amy; Murray, Alexandra; Rogers, Mark T.; McCann, Emma; Kennedy, M. John; Barton, David; Porteous, Mary; Drummond, Sarah; Brewer, Carole; Kivuva, Emma; Searle, Anne; Goodman, Selina; Hill, Kathryn; Davidson, Rosemarie; Murday, Victoria; Bradshaw, Nicola; Snadden, Lesley; Longmuir, Mark; Watt, Catherine; Gibson, Sarah; Haque, Eshika; Tobias, Ed; Duncan, Alexis; Izatt, Louise; Jacobs, Chris; Langman, Caroline; Whaite, Anna; Dorkins, Huw; Barwell, Julian; Adlard, Julian; Chu, Carol; Miller, Julie; Ellis, Ian; Houghton, Catherine; Evans, D. Gareth; Lalloo, Fiona; Taylor, Jane; Side, Lucy; Male, Alison; Berlin, Cheryl; Eason, Jacqueline; Collier, Rebecca; Douglas, Fiona; Claber, Oonagh; Jobson, Irene; Walker, Lisa; McLeod, Diane; Halliday, Dorothy; Durell, Sarah; Stayner, Barbara; Eeles, Ros; Shanley, Susan; Rahman, Nazneen; Houlston, Richard; Bancroft, Elizabeth; D'Mello, Lucia; Page, Elizabeth; Ardern-Jones, Audrey; Kohut, Kelly; Wiggins, Jennifer; Castro, Elena; Mitra, Anita; Robertson, Lisa; Cook, Jackie; Quarrell, Oliver; Bardsley, Cathryn; Hodgson, Shirley; Goff, Sheila; Brice, Glen; Winchester, Lizzie; Eddy, Charlotte; Tripathi, Vishakha; Attard, Virginia; Eccles, Diana; Lucassen, Anneke; Crawford, Gillian; McBride, Donna; Smalley, Sarah; Sinilnikova, Olga; Mazoyer, Sylvie; Barjhoux, Laure; Verny-Pierre, Carole; Giraud, Sophie; Léone, Mélanie; Stoppa-Lyonnet, Dominique; Gauthier-Villars, Marion; Buecher, Bruno; Houdayer, Claude; Moncoutier, Virginie; Belotti, Muriel; Tirapo, Carole; de Pauw, Antoine; Bressac-de-Paillerets, Brigitte; Byrde, Véronique; Caron, Olivier; Lenoir, Gilbert; Bignon, Yves-Jean; Uhrhammer, Nancy; Lasset, Christine; Bonadona, Valérie; Hardouin, Agnès; Berthet, Pascaline; Sobol, Hagay; Bourdon, Violaine; Noguchi, Tetsuro; Remenieras, Audrey; Eisinger, François; Coulet, Florence; Colas, Chrystelle; Soubrier, Florent; Coupier, Isabelle; Pujol, Pascal; Peyrat, Jean-Philippe; Fournier, Joëlle; Révillion, Françoise; Vennin, Philippe; Adenis, Claude; Rouleau, Etienne; Lidereau, Rosette; Demange, Liliane; Nogues, Catherine; Muller, Danièle; Fricker, Jean-Pierre; Barouk-Simonet, Emmanuelle; Bonnet, Françoise; Bubien, Virginie; Sevenet, Nicolas; Longy, Michel; Toulas, Christine; Guimbaud, Rosine; Gladieff, Laurence; Feillel, Viviane; Leroux, Dominique; Dreyfus, Hélène; Rebischung, Christine; Peysselon, Magalie; Coron, Fanny; Faivre, Laurence; Prieur, Fabienne; Lebrun, Marine; Kientz, Caroline; Ferrer, Sandra Fert; Frénay, Marc; Vénat-Bouvet, Laurence; Delnatte, Capucine; Mortemousque, Isabelle; Lynch, Henry T.; Snyder, Carrie L.; Hogervorst, F. B. L.; Verhoef, S.; Verheus, M.; van't Veer, L. J.; van Leeuwen, F. E.; Rookus, M. A.; Collée, M.; Jager, A.; Hooning, M. J.; Tilanus-Linthorst, M. M. A.; Wijnen, J. T.; Vreeswijk, M. P.; Tollenaar, R. A.; Ligtenberg, M. J.; Hoogerbrugge, N.; Ausems, M. G.; van Os, T. A.; Gille, J. J. P.; Waisfisz, Q.; Gomez-Garcia, E. B.; van Roozendaal, C. E.; Blok, Marinus J.; Caanen, B.; van der Hout, A. H.; Mourits, M. J.; Vasen, H. F.; Szabo, C. I.; Zikan, Michal; Pohlreich, Petr; Kleibl, Zdenek; Foretova, Lenka; Eva, Machackova; Miroslava, Lukesova; Claes, Kathleen; de Leeneer, Kim; Poppe, Bruce; de Paepe, Anne; Karlsson, Per; Nordling, Margareta; Bergman, Annika; Einbeigi, Zakaria; Stenmark-Askmalm, Marie; Liedgren, Sigrun; Borg, Ake; Loman, Niklas; Olsson, Håkan; Soller, Maria; Jernström, Helena; Harbst, Katja; Henriksson, Karin; Lindblom, Annika; Arver, Brita; von Wachenfeldt, Anna; Liljegren, Annelie; Barbany-Bustinza, Gisela; Rantala, Johanna; Melin, Beatrice; Grönberg, Henrik; Stattin, Eva-Lena; Emanuelsson, Monica; Ehrencrona, Hans; Rosenquist, Richard; Dahl, Niklas

    2012-01-01

    BACKGROUND: The variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. Two genes of special interest are prohibitin (PHB) and methylene-tetrahydrofolate reductase (MTHFR), both of which are important either

  15. Modelo poblacional con algoritmos genéticos

    Veliz Quintero, Eduardo; Rodriguez Ojeda, Luis

    2009-01-01

    Para el desarrollo de este trabajo, “MODELO POBLACIONAL CON ALGORITMOS GENÉTICOS”, he investigado la rama de la inteligencia artificial, como son los algoritmos genéticos. Primero presento en forma general los aspectos que envuelven los algoritmos genéticos, parto de la necesidad de optimizar, así como su historia y posibles aplicaciones y luego he cubierto detalladamente todo lo que pude investigar sobre la teoría de los algoritmos genéticos, sus fundamentos matemáticos, tipos de algoritmos ...

  16. Sobre el significado del descubrimiento del gen FOXP2

    Longa Martínez, Víctor Manuel

    2006-01-01

    El reciente descubrimiento del gen FOXP2 ha ofrecido la primera evidencia clara de la base genética del lenguaje, mostrando una correlación inequívoca desde la perspectiva genética entre una versión mutada de F0XP2 y los trastornos lingüísticos de diferente tipo sufridos por una familia inglesa, conocida como KE. El objetivo central del presente trabajo es discutir diferentes aspectos relacionados con tal descubrimiento; especialmente, la discusión del significado de FOXP2 con ...

  17. Malformação arteriovenosa uterina após doença trofoblástica gestacional Uterine arteriovenous malformation after gestational trophoblastic disease

    Paulo Belfort

    2006-02-01

    Full Text Available OBJETIVO: investigar a presença e resultados de malformações vasculares uterinas (MAVU após doença trofoblástica gestacional (DTG. MÉTODOS: estudo retrospectivo com inclusão de casos diagnosticados entre 1987 e 2004; 2764 pacientes após DTG foram acompanhadas anualmente com ultra-sonografia transvaginal e Doppler colorido no Centro de Neoplasia Trofoblástica Gestacional da Santa Casa da Misericórdia (Rio de Janeiro, RJ, Brasil. Sete pacientes tiveram diagnóstico final de MAVU baseado em análise ultra-sonográfica - índice de pulsatilidade (IP, índice de resistência (IR e velocidade sistólica máxima (VSM - e achados de imagens de ressonância nuclear magnética (RNM. Dosagens negativas de beta-hCG foram decisivas para estabelecer o diagnóstico diferencial com DTG recidivante. RESULTADOS: a incidência de MAVU após DTG foi 0,2% (7/2764. Achados ultra-sonográficos de MAVU: IP médio de 0,44±0,058 (extremos: 0,38-0,52; IR médio de 0,36±0,072 (extremos: 0,29-0,50; VSM média de 64,6±23,99 cm/s (extremos: 37-96. A imagem de RNM revelou útero aumentado, miométrio heterogêneo, espaços vasculares tortuosos e vasos parametriais com ectasia. A apresentação clínica mais comum foi hemorragia transvaginal, presente em 52,7% (4/7 dos casos. Tratamento farmacológico com 150 mg de acetato de medroxiprogesterona foi empregado para controlar a hemorragia, após a estabilização hemodinâmica. Permanecem as pacientes em seguimento, assintomáticas até hoje. Duas pacientes engravidaram com MAVU, com gestações e partos exitosos. CONCLUSÃO: presente sangramento transvaginal em pacientes com beta-hCG negativo e história de DTG, deve-se considerar a possibilidade de MAVU e solicitar avaliação ultra-sonográfica com dopplervelocimetria. O tratamento conservador é a melhor opção na maioria dos casos de MAVU pós-DTG.PURPOSE: to investigate the presence and outcome of uterinevascular malformations (UVAM after gestational

  18. Resultados preliminares do uso de anti-hiperglicemiantes orais no diabete melito gestacional Preliminary results of the use of oral hypoglycemic drugs on gestational diabetes mellitus

    Jean Carl Silva

    2005-08-01

    Full Text Available OBJETIVO: comparar a eficácia da glibenclamida e da acarbose com insulina no tratamento do diabete melito gestacional (DMG em relação ao controle glicêmico materno, peso do recém-nascido (RN e hipoglicemia neonatal. MÉTODOS: trata-se de ensaio clínico randomizado, prospectivo e aberto. Foram incluídas 57 pacientes com diagnóstico de DMG, que necessitaram de terapêutica complementar à dietoterapia e à atividade física. As gestantes foram aleatoriamente alocadas em um de três grupos com terapêuticas diferentes: um grupo controle conduzido com insulinoterapia, outro com glibenclamida e outro com acarbose. O período do estudo foi de sete meses (1º de outubro de 2003 a 1º de maio de 2004. Os desfechos primários avaliados foram o nível glicêmico materno após o inicio do tratamento, a necessidade de troca de terapêutica para controle glicêmico, peso do RN e presença de hipoglicemia neonatal. A análise estatística foi realizada pelo teste estatístico ANOVA, com nível de significância de 5%. RESULTADOS: as características maternas foram semelhantes nos três grupos estudados. O controle glicêmico não foi obtido em três pacientes que utilizaram glibenclamida (15% e em sete das usuárias de acarbose (38,8%. Não houve diferença quanto à glicemia em jejum e pós-prandial e no peso médio do RN entre os três grupos. A incidência de fetos grandes para a idade gestacional foi de 5,2, 31,5 e 11,1% nos grupos tratados com insulina, glibenclamida e acarbose, respectivamente. A hipoglicemia neonatal ocorreu em seis RN, sendo quatro deles do grupo glibenclamida (21,0%. CONCLUSÕES: a glibenclamida foi mais eficiente para o controle glicêmico que a acarbose, mas ambos foram menos eficientes que a insulina. Os RN de pacientes alocadas no grupo glibenclamida apresentaram maior incidência de macrossomia e de hipoglicemia neonatal quando comparados com os RN cujas mães receberam outros tratamentos.PURPOSE: to compare the

  19. TrayGen: Arranging objects for exhibition and packaging

    Yang, Yongliang; Huang, Qixing

    2013-01-01

    We present a framework, called TrayGen, to generate tray designs for the exhibition and packaging of a collection of objects. Based on principles from shape perception and visual merchandising, we abstract a number of design guidelines on how

  20. EPCGen2 Pseudorandom Number Generators: Analysis of J3Gen

    Alberto Peinado

    2014-04-01

    Full Text Available This paper analyzes the cryptographic security of J3Gen, a promising pseudo random number generator for low-cost passive Radio Frequency Identification (RFID tags. Although J3Gen has been shown to fulfill the randomness criteria set by the EPCglobal Gen2 standard and is intended for security applications, we describe here two cryptanalytic attacks that question its security claims: (i a probabilistic attack based on solving linear equation systems; and (ii a deterministic attack based on the decimation of the output sequence. Numerical results, supported by simulations, show that for the specific recommended values of the configurable parameters, a low number of intercepted output bits are enough to break J3Gen. We then make some recommendations that address these issues.

  1. Introducing AstroGen: The Astronomy Genealogy Project

    Tenn, Joseph S.

    2016-01-01

    The Astronomy Genealogy Project ("AstroGen"), a project of the Historical Astronomy Division of the American Astronomical Society (AAS), will soon appear on the AAS website. Ultimately, it will list the world's astronomers with their highest degrees, theses for those who wrote them, academic advisors (supervisors), universities, and links to the astronomers or their obituaries, their theses when on-line, and more. At present the AstroGen team is working on those who earned doctorates with ast...

  2. Parapedobacter koreensis gen. nov., sp. nov.

    Kim, Myung Kyum; Na, Ju-Ryun; Cho, Dong Ha; Soung, Nak-Kyun; Yang, Deok-Chun

    2007-06-01

    Strain Jip14(T), a Gram-negative, non-spore-forming, rod-shaped, non-motile bacterium, was isolated from dried rice straw and characterized in order to determine its taxonomic position. 16S rRNA gene sequence analysis revealed that strain Jip14(T) belongs to the family Sphingobacteriaceae, and the highest degree of sequence similarity was determined to be to Pedobacter saltans DSM 12145(T) (88.5 %), Pedobacter africanus DSM 12126(T) (87.6 %), Pedobacter heparinus DSM 2366(T) (87.1 %) and Pedobacter caeni LMG 22862(T) (86.9 %). Chemotaxonomic data revealed that strain Jip14(T) possesses menaquinone MK-7 and the predominant fatty acids C(15 : 0) iso, C(16 : 0), C(16 : 0) 10-methyl, C(17 : 0) iso 3-OH and summed feature 3 (C(15 : 0) iso 2-OH/C(16 : 1)omega7c). The results of physiological and biochemical tests clearly demonstrated that strain Jip14(T) represents a distinct species. Based on these data, Jip14(T) should be classified within a novel genus and species, for which the name Parapedobacter koreensis gen. nov., sp. nov. is proposed. The type strain of Parapedobacter koreensis is Jip14(T) (=KCTC 12643(T)=LMG 23493(T)).

  3. Banque Cantonale de Genève

    Banque Cantonale de Genève

    2011-01-01

    7e Salon Immobilier BCGE le samedi 3 septembre 2011, de 8 h 30 à 13 h 00, au Centre de formation de Conches À cette occasion, les meilleurs spécialistes professionnels genevois de l’immobilier seront réunis en un seul et même lieu. Si vous le souhaitez, un conseiller spécialisé dans les financements hypothécaires évaluera vos possibilités d’investissement immobilier adaptées à votre situation personnelle. En parallèle, les plus importantes régies immobilières de Genève seront à votre disposition pour vous présenter leurs offres actuelles, ainsi que les projets immobiliers futurs et discuter avec vous de la meilleure stratégie à adopter pour trouver l’objet de vos rêves. De plus, vous aurez la possibilité...

  4. Pregnancy-associated osteoporosis with a heterozygous deactivating LDL receptor-related protein 5 (LRP5) mutation and a homozygous methylenetetrahydrofolate reductase (MTHFR) polymorphism.

    Cook, Fiona J; Mumm, Steven; Whyte, Michael P; Wenkert, Deborah

    2014-04-01

    Pregnancy-associated osteoporosis (PAO) is a rare, idiopathic disorder that usually presents with vertebral compression fractures (VCFs) within 6 months of a first pregnancy and delivery. Spontaneous improvement is typical. There is no known genetic basis for PAO. A 26-year-old primagravida with a neonatal history of unilateral blindness attributable to hyperplastic primary vitreous sustained postpartum VCFs consistent with PAO. Her low bone mineral density (BMD) seemed to respond to vitamin D and calcium therapy, with no fractures after her next successful pregnancy. Investigation of subsequent fetal losses revealed homozygosity for the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism associated both with fetal loss and with osteoporosis (OP). Because her neonatal unilateral blindness and OP were suggestive of loss-of-function mutation(s) in the gene that encodes LDL receptor-related protein 5 (LRP5), LRP5 exon and splice site sequencing was also performed. This revealed a unique heterozygous 12-bp deletion in exon 21 (c.4454_4465del, p.1485_1488del SSSS) in the patient, her mother and sons, but not her father or brother. Her mother had a normal BMD, no history of fractures, PAO, ophthalmopathy, or fetal loss. Her two sons had no ophthalmopathy and no skeletal issues. Her osteoporotic father (with a family history of blindness) and brother had low BMDs first documented at ages ∼40 and 32 years, respectively. Serum biochemical and bone turnover studies were unremarkable in all subjects. We postulate that our patient's heterozygous LRP5 mutation together with her homozygous MTHFR polymorphism likely predisposed her to low peak BMD. However, OP did not cosegregate in her family with the LRP5 mutation, the homozygous MTHFR polymorphism, or even the combination of the two, implicating additional genetic or nongenetic factors in her PAO. Nevertheless, exploration for potential genetic contributions to PAO may explain part of the pathogenesis of this

  5. Gestacional diabetes and perinatal morbimortality in Medellín, Colombia Diabetes mellitus durante la gestación y morbimortalidad perinatal

    Juan Nicolás Franco Baena

    1996-02-01

    Full Text Available Retrospective analysis of 166 pregnant women with gestational diabetes mellitus, at San Vicente de Paúl Hospital, Medellín, Colombia, evidenced inadequate registration of information and lack of clinical management protocols, despite the fact that this is a reference institution. Gestational diabetes mellitus (GDM was found in 81 patients (48.8%, non-insulin-dependent diabetes mellitus (NIDDM in 69 (41.5% and insulin-dependent diabetes mellitus (IDDM in 16 (9.6%. Perinatal morbidity rate was 52.2% (72 cases among the 138 in which information was available, distributed as follows: macrosomy (16 cases; 22.2%, acute fetal distress (15 cases; 20.8%, chronic fetal distress (10 cases; 13.9%, polyhydramnios (9 cases; 12.5%, hypoglycemia (8 cases; 11.1 % and delivery fetal trauma (6 cases; 8.3%. It was remarkable that the potentially preventable entities (macrosomy, acute and chronic fetal distress, polyhydramnios, fetal trauma and respiratory failure syndrome were more frequent in NIDDM and GDM groups, indicating an inadequate clinical management; fetal mortality was 3.6% (5 patients mostly associated to maternal hypertension. These results point out to the urgent need of establishing in this third level hospital an interdisciplinary management protocol of gestational diabetes, with apropriate registration of information and clear clinical guides

    El análisis retrospectivo de 166 pacientes embarazadas y con diagnóstico de diabetes mellitus, atendidas en el Hospital Universitario San Vicente de Paúl, de Medellín, Colombia, permite apreciar un registro inadecuado de la información, lo que le resta confiabilidad, y la carencia de protocolos apropiados de manejo. La diabetes gestacional (DMG se presentó en 81 pacientes (48.8%, seguida por la diabetes mellitus no insulino dependiente (DMNID (69 pacientes; 41.5% y por último la

  6. Catarata na infância: perfil socioeconômico, gestacional e desenvolvimento neuropsicomotor Cataract in childhood: socioeconomic and gestational profiles and neuropsychomotor development

    Cristiane Bezerra da Cruz

    2005-02-01

    Full Text Available OBJETIVO: Analisar o perfil socioeconômico e gestacional e o desenvolvimento neuropsicomotor de pacientes com catarata infantil atendidos em centro de referência oftalmológica no estado de Pernambuco, Brasil. MÉTODOS: Aplicou-se um questionário estruturado, em outubro e novembro de 2003, aos genitores das crianças submetidas à cirurgia de catarata infantil na Fundação Altino Ventura. RESULTADOS: Dos 40 pacientes, 23 eram do gênero feminino (57,0% e 17 do masculino (43,0%. A maioria das mães (65,0% e dos pais (55,0% das crianças informou ter como grau de instrução o primeiro grau incompleto. A renda familiar variou de 1 a 3 salários mínimos, em 70,0% dos casos. Quanto ao estado civil 40,0% dos genitores eram casados. Trinta e nove mães (97,5% fizeram pré-natal, 37 (92,5% referiram não terem sido imunizadas contra a rubéola, e 13 (32,5% referiram rubéola na gravidez. Três mães (7,5% referiram consangüinidade com seus cônjuges e cinco (12,5% relataram exposição a medicamentos durante a gestação. O desenvolvimento neuropsicomotor da maioria dos pacientes analisados estava dentro dos limites tidos como normais em outros estudos. Quatorze pacientes (35,0% tinham idade maior ou igual que 6 anos no momento da entrevista e, onze desses (78,5% estavam na escola. O índice de repetência escolar dessas crianças foi de 45,4%. CONCLUSÃO: Na amostra estudada, observou-se que os pacientes caracterizavam-se por pertencerem a uma população de baixa renda. Menos da metade dos pais entrevistados eram casados e, os pacientes tinham baixo rendimento escolar. Identificaram-se falhas no sistema de saúde quanto à imunização para rubéola.PURPOSE: To analyze the socioeconomic and gestational profiles, and the neuropsychomotor development of patients with infantile cataract cared for at a medical ophthalmologic center in Pernambuco state, Brazil. METHODS: A standardized questionnaire was applied, in October and November 2003, to the

  7. Tratamento do diabetes mellitus gestacional com glibenclamida: fatores de sucesso e resultados perinatais Gestational diabetes mellitus management with glyburide: factors of success and perinatal outcomes

    Jean Carl Silva

    2007-11-01

    Full Text Available OBJETIVO: identificar os fatores relacionados ao sucesso no tratamento do diabetes mellitus gestacional (DMG com a glibenclamida e avaliar os resultados perinatais. MÉTODOS: estudo longitudinal, prospectivo, no qual foram incluídas, no período de agosto de 2005 até julho de 2006, 50 gestantes portadoras de DMG, que necessitaram de terapêutica complementar à dietoterapia e à atividade física, com feto apresentando circunferência abdominal (CA normal à ultra-sonografia (abaixo do percentil 75. Foi mantida a glibenclamida até o parto, enquanto o controle glicêmico estivesse adequado e a CA fetal normal, sendo considerado um sucesso terapêutico. Na falta de controle glicêmico ou a CA fetal alterada, a terapêutica foi substituída por insulinoterapia, sendo considerada falha terapêutica. As gestantes foram divididas em dois grupos: um que obteve sucesso com a terapêutica (n=29 e outro, falha (n=21. Os resultados avaliados foram: sucesso terapêutico, características maternas e resultado perinatal. RESULTADOS: dos casos analisados, 58% obtiveram sucesso com a glibenclamida. Não foi encontrada diferença (p>0,05 nos dois grupos quanto à idade materna, valores das glicemias no teste de tolerância oral à glicose com 75 g, índice de massa corpórea (IMC materno, número de consultas no pré-natal e número de gestações anteriores. Ajustando-se a um modelo de regressão logística, encontramos que as gestantes com sucesso terapêutico tiveram o diagnóstico mais tardio (p=0,02 e menor ganho de peso durante a gestação (pPURPOSE: to identify the factors related to successful gestational diabetes mellitus (GDM management with glyburide and to evaluate perinatal outcomes. METHODS: prospective longitudinal study including 50 pregnant women with GDM who required complementary treatment to diet and physical activity, whose fetus presented normal abdominal circumference (AC to ultrasound (pct0.05 in either group, with regards to maternal

  8. Curva de referencia peruana del peso de nacimiento para la edad gestacional y su aplicación para la identificación de una nueva población neonatal de alto riesgo

    Manuel Ticona-Rendón

    2007-10-01

    Full Text Available El peso de nacimiento en relación con la edad gestacional, tiene valor pronóstico y sirve para el manejo clínico del recién nacido. La OMS recomienda patrones de crecimiento fetal en los centros perinatológicos, pues se detecta diferencias según países y condiciones de vida. Objetivos. Obtener una curva de referencia peruana del peso de nacimiento para la edad gestacional (CR-PNEG, de acuerdo con criterios propuestos por la OMS y analizar su influencia en la identificación de grupos de alto riesgo en comparación con las curvas de Lubchenco. Materiales y métodos. Se enroló prospectivamente a todos los recién nacidos (RN vivos durante el año 2005 en 29 hospitales del Ministerio de Salud que usan el Sistema Informático Perinatal 2000. Resultados. 50 568 RN vivos fueron seleccionados de 99 439 nacimientos, su peso promedio fue 3011-3506 g y su percentil 10 fue 2435-3030 g a las 37 y 42 semanas respectivamente; que fueron significativamente mayores a los de Lubchenco. La multiparidad, talla materna alta, sexo fetal masculino y nacer en la costa estuvieron asociadas (p<0,001 con un mayor peso de nacimiento entre las semanas 36 a 42. La CR-PNEG peruana diagnosticó 10,1% neonatos pequeños para su edad gestacional (RN-PEG frente a 4,1% identificados con la curva Lubchenco (p<0,01. Los nuevos RN-PEG identificados presentaron mayor morbilidad (OR:1,47; p<0,05 y mortalidad (OR: 15,6; p<0,01 que los de peso adecuado. Conclusiones. Se obtuvo CR-PNEG en población peruana seleccionada y factores de corrección por paridad, talla materna, sexo fetal y región natural. Se demostró que el uso de la curva de Lubchenco subestima el número de PEG. Se recomienda el uso de la CR-PNEG peruana en los establecimientos del Ministerio de Salud del Perú.

  9. Non classical risk factors for gestational diabetes mellitus: a systematic review of the literature Fatores de risco não clássicos para diabetes mellitus gestacional: uma revisão sistemática da literatura

    Maria Alice Souza de Oliveira Dode

    2009-01-01

    Full Text Available Age, obesity and family history of diabetes are well known risk factors for gestational diabetes mellitus. Others are more controversial. The objective of this review is to find evidence in the literature that justifies the inclusion of these other conditions among risk factors. The MEDLINE, Cochrane, LILACS and Pan American Health Organization databases were searched, covering articles dating from between 1992 and 2006. Keywords were used in combination (AND with gestational diabetes mellitus separately and with each one of the risk factors studied. The methodological quality of the studies included was assessed, resulting in the selection of 41 papers. Most studies investigating maternal history of low birth weight, low stature, and low level of physical activity have found positive associations with gestational diabetes mellitus. Low socioeconomic levels, smoking during pregnancy, high parity, belonging to minority groups, and excessive weight gain during pregnancy presented conflicting results. Publication bias cannot be ruled out. Standardization of techniques, cutoff points for screening and diagnosis, as well as studies involving larger sample sizes would allow future meta-analyses.Idade, obesidade e história familiar de diabetes são fatores de risco bem conhecidos para diabetes mellitus gestacional. Outros são controversos. O objetivo desta revisão é encontrar evidências na literatura que justifiquem a inclusão dessas condições entre os fatores de risco. Bases de dados MEDLINE, Cochrane, LILACS e Organização Pan-Americana da Saúde foram procuradas. A revisão incluiu artigos de 1992 a 2006. Palavras-chave foram usadas em combinação com diabetes mellitus gestacional separadamente e com cada um dos fatores de risco estudados. A qualidade metodológica dos estudos incluídos foi medida, totalizando 41 estudos. A maioria dos trabalhos que investigaram história materna de baixo peso, baixa estatura e baixa atividade f

  10. A lower degree of PBMC L1 methylation in women with lower folate status may explain the MTHFR C677T polymorphism associated higher risk of CIN in the US post folic acid fortification era.

    Suguna Badiga

    Full Text Available Studies in populations unexposed to folic acid (FA fortification have demonstrated that MTHFR C677T polymorphism is associated with increased risk of higher grades of cervical intraepithelial neoplasia (CIN 2+. However, it is unknown whether exposure to higher folate as a result of the FA fortification program has altered the association between MTHFR C677T and risk of CIN, or the mechanisms involved with such alterations. The current study investigated the following in a FA fortified population: 1 The association between MTHFR C677T polymorphism and risk of CIN 2+; 2 The modifying effects of plasma folate concentrations on this association; and 3 The modifying effects of plasma folate on the association between the polymorphism and degree of methylation of long interspersed nucleotide elements (L1s, in peripheral blood mononuclear cell (PBMC DNA, a documented biomarker of CIN risk.The study included 457 US women diagnosed with either CIN 2+ (cases or ≤ CIN 1 (non-cases. Unconditional logistic regression models were used to test the associations after adjusting for relevant risk factors for CIN.The 677CT/TT MTHFR genotypes were not associated with the risk of CIN 2+. Women with CT/TT genotype with lower folate, however, were more likely to be diagnosed with CIN 2+ compared to women with CT/TT genotype with higher folate (OR = 2.41, P = 0.030. Women with CT/TT genotype with lower folate were less likely to have a higher degree of PBMC L1 methylation compared to women with CT/TT genotype with higher folate (OR = 0.28, P = 0.017.This study provides the first evidence that the MTHFR 677CT/TT genotype-associated lower degree of PBMC L1 methylation increases the risk of CIN 2+ in women in the US post-FA fortification era. Thus, even in the post-FA fortification era, not all women have adequate folate status to overcome MTHFR 677CT/TT genotype-associated lower degree of L1 methylation.

  11. Glucose Tolerance, MTHFR C677T and NOS3 G894T Polymorphisms, and Global DNA Methylation in Mixed Ancestry African Individuals

    Tandi E. Matsha

    2016-01-01

    Full Text Available The aim of this study is to quantify global DNA methylation and investigate the relationship with diabetes status and polymorphisms in MTHFR C677T and NOS3 G894T genes in mixed ancestry subjects from South Africa. Global DNA methylation was measured, and MTHFR rs1801133 and NOS3 rs1799983 polymorphisms were genotyped using high throughput real-time polymerase chain reaction and direct DNA sequencing. Of the 564 participants, 158 (28% individuals had T2DM of which 97 (17.2% were screen-detected cases. Another 119 (21.1% had prediabetes, that is, impaired fasting glucose, impaired glucose tolerance, or the combination of both, and the remainder 287 (50.9% had normal glucose tolerance. Global DNA methylation was significantly higher in prediabetes and screen-detected diabetes than in normal glucose tolerance (both p≤0.033 and in screen-detected diabetes compared to known diabetes on treatment (p=0.019. There was no difference in global DNA methylation between known diabetes on treatment and normal glucose tolerance (p>0.999. In multivariable linear regression analysis, only NOS3 was associated with increasing global DNA methylation (β=0.943; 95% CI: 0.286 to 1.560. The association of global DNA methylation with screen-detected diabetes but not treated diabetes suggests that glucose control agents to some extent may be reversing DNA methylation. The association between NOS3 rs1799983 polymorphisms and DNA methylation suggests gene-epigenetic mechanisms through which vascular diabetes complications develop despite adequate metabolic control.

  12. Strong association of 677 C>T substitution in the MTHFR gene with male infertility--a study on an indian population and a meta-analysis.

    Nishi Gupta

    Full Text Available Methylenetetrahydrofolate reductase (MTHFR is an important enzyme of folate and methionine metabolism, making it crucial for DNA synthesis and methylation. The objective of this study was to analyze MTHFR gene 677C>T polymorphism in infertile male individuals from North India, followed by a meta-analysis on our data and published studies.We undertook genotyping on a total of 837 individuals including well characterized infertile (N = 522 and confirmed fertile (N = 315 individuals. The SNP was typed by direct DNA sequencing. Chi square test was done for statistical analysis. Published studies were searched using appropriate keywords. Source of data collection for meta-analysis included 'Pubmed', 'Ovid' and 'Google Scholar'. Those studies analyzing 677C>T polymorphism in male infertility and presenting all relevant data were included in meta-analysis. The genotype data for infertile subjects and fertile controls was extracted from each study. Chi square test was done to obtain odds ratio (OR and p-value. Meta-analysis was performed using Comprehensive Meta-analysis software (Version 2. The frequency of mutant (T allele (p = 0.0025 and genotypes (CT+TT (p = 0.0187 was significantly higher in infertile individuals in comparison to fertile controls in our case-control study. The overall summary estimate (OR for allele and genotype meta-analysis were 1.304 (p = 0.000, 1.310 (p = 0.000, respectively, establishing significant association of 677C>T polymorphism with male infertility.677C>T substitution associated strongly with male infertility in Indian population. Allele and genotype meta-analysis also supported its strong correlation with male infertility, thus establishing it as a risk factor.

  13. High-dose folic acid supplementation alters the human sperm methylome and is influenced by the MTHFR C677T polymorphism.

    Aarabi, Mahmoud; San Gabriel, Maria C; Chan, Donovan; Behan, Nathalie A; Caron, Maxime; Pastinen, Tomi; Bourque, Guillaume; MacFarlane, Amanda J; Zini, Armand; Trasler, Jacquetta

    2015-11-15

    Dietary folate is a major source of methyl groups required for DNA methylation, an epigenetic modification that is actively maintained and remodeled during spermatogenesis. While high-dose folic acid supplementation (up to 10 times the daily recommended dose) has been shown to improve sperm parameters in infertile men, the effects of supplementation on the sperm epigenome are unknown. To assess the impact of 6 months of high-dose folic acid supplementation on the sperm epigenome, we studied 30 men with idiopathic infertility. Blood folate concentrations increased significantly after supplementation with no significant improvements in sperm parameters. Methylation levels of the differentially methylated regions of several imprinted loci (H19, DLK1/GTL2, MEST, SNRPN, PLAGL1, KCNQ1OT1) were normal both before and after supplementation. Reduced representation bisulfite sequencing (RRBS) revealed a significant global loss of methylation across different regions of the sperm genome. The most marked loss of DNA methylation was found in sperm from patients homozygous for the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, a common polymorphism in a key enzyme required for folate metabolism. RRBS analysis also showed that most of the differentially methylated tiles were located in DNA repeats, low CpG-density and intergenic regions. Ingenuity Pathway Analysis revealed that methylation of promoter regions was altered in several genes involved in cancer and neurobehavioral disorders including CBFA2T3, PTPN6, COL18A1, ALDH2, UBE4B, ERBB2, GABRB3, CNTNAP4 and NIPA1. Our data reveal alterations of the human sperm epigenome associated with high-dose folic acid supplementation, effects that were exacerbated by a common polymorphism in MTHFR. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  14. Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS gene polymorphisms in atrial fibrillation susceptibility.

    Betti Giusti

    Full Text Available BACKGROUND: Hyperhomocysteinemia has been suggested to play a role in the NonValvular Atrial Fibrillation (NVAF pathogenesis. Polymorphisms in genes coding for homocysteine (Hcy metabolism enzymes may be associated with hyperhomocysteinemia and NVAF. METHODOLOGIES: 456 NVAF patients and 912 matched controls were genotyped by an electronic microchip technology for C677T and A1298C MTHFR, A2756G MTR, and -786C/T eNOS gene polymorphisms. Hcy was determined by an immunoassay method. PRINCIPAL FINDINGS: The genotype distribution of the four polymorphisms as well as genotype combinations did not differ in patients and controls. Hcy was higher in patients than in controls (15.2, 95%CI 14.7-15.7 vs 11.3, 95%CI 11.0-11.6 micromol/L; p<0.0001. In both populations, a genotype-phenotype association (p<0.0001 between Hcy and C677T MTHFR polymorphism was observed; in controls a significant (p = 0.029 association between tHcy and -786C/T eNOS polymorphism was also observed. At the multivariate analysis the NVAF risk significantly increased in the upper quartiles of Hcy compared to the lowest: OR from 2.8 (1.68-4.54 95%CI in Q2 to 12.9 (7.96-21.06 95%CI in Q4. CONCLUSIONS: Our data demonstrated the four polymorphisms, although able, at least in part, to affect Hcy, were not associated with an increased risk of NVAF per se or in combination.

  15. Glucose Tolerance, MTHFR C677T and NOS3 G894T Polymorphisms, and Global DNA Methylation in Mixed Ancestry African Individuals

    Mutize, Tinashe; Erasmus, Rajiv T.

    2016-01-01

    The aim of this study is to quantify global DNA methylation and investigate the relationship with diabetes status and polymorphisms in MTHFR C677T and NOS3 G894T genes in mixed ancestry subjects from South Africa. Global DNA methylation was measured, and MTHFR rs1801133 and NOS3 rs1799983 polymorphisms were genotyped using high throughput real-time polymerase chain reaction and direct DNA sequencing. Of the 564 participants, 158 (28%) individuals had T2DM of which 97 (17.2%) were screen-detected cases. Another 119 (21.1%) had prediabetes, that is, impaired fasting glucose, impaired glucose tolerance, or the combination of both, and the remainder 287 (50.9%) had normal glucose tolerance. Global DNA methylation was significantly higher in prediabetes and screen-detected diabetes than in normal glucose tolerance (both p ≤ 0.033) and in screen-detected diabetes compared to known diabetes on treatment (p = 0.019). There was no difference in global DNA methylation between known diabetes on treatment and normal glucose tolerance (p > 0.999). In multivariable linear regression analysis, only NOS3 was associated with increasing global DNA methylation (β = 0.943; 95% CI: 0.286 to 1.560). The association of global DNA methylation with screen-detected diabetes but not treated diabetes suggests that glucose control agents to some extent may be reversing DNA methylation. The association between NOS3 rs1799983 polymorphisms and DNA methylation suggests gene-epigenetic mechanisms through which vascular diabetes complications develop despite adequate metabolic control. PMID:27990443

  16. Velocimetria Doppler no período neonatal em recém-nascidos a termo pequenos para idade gestacional Neonatal Doppler velocimetry in full term small-for-gestational age newborns

    Iracema Augusta Carvalho Cortez Muniz

    2003-09-01

    Full Text Available Este estudo teve como objetivo avaliar o fluxo sanguíneo cerebral em recém-nascidos a termo pequenos para idade gestacional, utilizando ultra-sonografia Doppler craniana ao nascimento. O estudo foi desenvolvido no CAISM/UNICAMP (Centro de Saúde Terciário para Mulheres. Foram selecionados sessenta recém-nascidos e divididos em 2 grupos: 36 adequados para idade gestacional (AIG e 24 pequenos para idade gestacional (PIG. Foi realizada a avaliação de ultra-sonografia Doppler craniana nos grupos, entre 24-48 horas após o nascimento. A velocidade de fluxo sanguíneo cerebral foi menor no grupo PIG na artéria cerebral anterior (ACA. As medidas Doppler foram estatisticamente diferentes entre os grupos apenas para valores relacionados à velocidade de fluxo de pico sistólico (VFPS e velocidade de fluxo médio (VFM na ACA. Não houve diferenças significantes para nenhum dos parâmetros avaliados de velocidade de fluxo na artéria cerebral média (ACM. Concluiu-se que recém-nascidos PIG apresentaram VFPS e VFM significativamente menores apenas na ACA. A adequação peso/idade gestacional, presença de policitemia neonatal e valores de pressão arterial média estiveram estatisticamente associados a VFM na ACA. A presença de sofrimento fetal, valores de pressão arterial média e hábito de fumar durante a gestação estiveram estatisticamente associados a VFM na ACM.This study aimed to evaluate the cerebral blood flow of full term small-for-gestational age newborns, using cranial ultrasound Doppler at birth. This study was performed at CAISM/UNICAMP (Tertiary Health Center for Women. Sixty term newborns were selected and divided in two groups: appropriate-for-gestational age (AGA (36 neonates and small-for-gestational age (SGA (24 neonates. Cranial ultrasound Doppler evaluation was performed on both groups, between 24 and 48 hours after birth. Cerebral blood flow velocity (CBFV was lower in the small-for-gestational age group, in the anterior

  17. Resultados da abordagem do Diabetes Mellitus Gestacional no Centro de Especialidades em Saúde da Mulher e da Criança de Itanhaém-SP

    Solange Ortolani

    2018-02-01

    Full Text Available Estudo documental de prontuários de gestantes portadoras de Diabetes Gestacional encaminhadas ao Pré-Natal de alto risco ao Centro de Especialidade em Saúde da Mulher e da Criança – Cescrim “Paula Vegas”. localizada no Município de Itanhaém-São Paulo, Brasil, com o objetivo de identificar as gestações de risco durante o acolhimento por enfermeiros. De um total de 234 gestantes cadastradas no sistema PNAR-Pré-Natal de Alto Risco, foram selecionados 32 prontuários de acordo com a proposta da pesquisa, no período de setembro de 2015 a junho de 2016, os quais foram examinados de acordo com as seguintes variáveis: idade, ocupação, renda, situação conjugal, gravidez planejada, número de gestações, paridade, abortos, natimortos, tipo de parto, número de filhos vivos, data do último parto, idade gestacional, peso atual, estatura, IMC, uso de substâncias ilícitas  glicemia de jejum no início do pré-natal, controle de glicemia capilar e teste oral de tolerância à glicose (TOTG de jejum e de 2 horas. Os dados obtidos foram tabulados e colocados em tabelas de frequência. Os resultados específicos para o rastreamento do DMG, apontaram 59,3% para 1ª glicemia em jejum entre 92 e 125 mg/dl, confirmando assim a suspeita de diabetes gestacional. Nos resultados indeterminados, a 2ª glicemia comprovou que 53% tiveram resultados alterados, mostrando a necessidade de se confirmar o exame para diagnóstico precoce do DMG. Dos exames utilizados como coadjuvantes para rastreamento, como Teste de Tolerância à Glicose, Glicemia Capilar os resultados apontaram para 28% do controle glicêmico alterado, assim como Teste de Tolerância, com glicemia de 2 horas, com 18,7% alterados. Também se avaliou o perfil das gestantes, os fatores de risco para o Diabetes Gestacional, a metodologia empregada para a suspeita do diagnóstico, a condução dos casos com critérios confirmados e a atuação das Enfermeiras durante a consulta de

  18. História gestacional e características da assistência pré-natal de puérperas adolescentes e adultas em uma maternidade do interior de Minas Gerais, Brasil

    Luciana Angélica Vieira Santos

    Full Text Available Resumo O objetivo desta pesquisa foi analisar a história gestacional e as características da assistência pré-natal de puérperas adolescentes e adultas em uma maternidade localizada em uma cidade de Minas Gerais, referência para a macrorregião de saúde do Jequitinhonha. Trata-se de um estudo transversal descritivo. Entrevistou-se 327 puérperas, entre maio de 2013 a março de 2014, utilizando um instrumento semiestruturado. Predominou o número de puérperas adultas com uma amostra de 255. Com relação ao pré-natal, 324 puérperas realizaram as consultas. Quanto ao local de realização do pré-natal, 79,2% das adolescentes, realizaram no serviço público de saúde, enquanto entre as adultas essa porcentagem foi de 60,4%. Quanto ao tipo de parto, 54,7% das puérperas o tiveram normal e 45% cesárea. Entre as adolescentes, houve uma maior porcentagem de parto normal comparado às adultas, e esse dado teve relação estatisticamente significativa com a idade da puérpera. Com relação à idade gestacional no momento do parto, 85,9% tiveram seus partos a termo; 13,5% pré-termo e 0,6% pós-termo. Evidenciou-se que as puérperas adolescentes estiveram em desvantagem em relação às demais mães no que diz respeito tanto às características socioeconômicas quanto na assistência recebida no pré-natal.

  19. Proliferative sickle cell retinopathy associated with sickle cell trait and gestational diabetes: case report Retinopatia falciforme proliferativa associada a traço falciforme e diabetes gestacional: relato de caso

    Jefferson Augusto Santana Ribeiro

    2009-06-01

    Full Text Available Proliferative sickle cell retinopathy is an uncommon complication in individuals with sickle cell trait (AS. However, the risk for proliferative retinopathy development is increased in patients with AS hemoglobinopathy associated with systemic conditions or ocular trauma. A case of a patient with AS hemoglobinopathy who developed proliferative sickle cell retinopathy after the occurrence of gestational diabetes and pregnancy-induced hypertension is reported. Hemoglobin electrophoresis revealed presence of A2 5.0%, S 35.0% and A 53.2%. The present case emphasizes the importance of evaluating systemic comorbidities in patients with sickle cell trait during pregnancy since sickle cell retinopathy can progress rapidly, as well as the importance of regular eye fundus examination in these patients.Retinopatia falciforme proliferativa é uma complicação incomum em indivíduos com traço falciforme, havendo, porém, risco aumentado de desenvolver retinopatia proliferativa em pacientes com hemoglobinopatia AS associada a condições sistêmicas ou trauma ocular. Neste artigo será apresentado um caso de paciente com diabetes gestacional, hipertensão arterial sistêmica associada à gravidez e traço falciforme. Eletroforese de hemoglobinas revelou a presença de A2 5,0%, S 35,0% e A 53,2%. Este caso ressalta a importância da avaliação de comorbidades sistêmicas em pacientes com traço falciforme no período gestacional, uma vez que pode ocorrer rápida progressão da retinopatia falciforme, devendo-se realizar também exames regulares do fundo de olho nestes pacientes.

  20. Persistência da imagem metastática pulmonary após tratamento de doença trofoblástica gestacional Persisting metastatic pulmonar imaging after treatment of gestational trophoblastic disease

    Eddie Fernando Candido Murta

    1999-01-01

    Full Text Available O objetivo deste relato é a apresentação de um caso de doença trofoblástica gestacional com metástases pulmonares, cujas imagens persistiram após a normalização dos títulos de fração beta do hormônio da gonadotrofina coriônica (beta-hCG após cinco ciclos de quimioterapia (metotrexato, 20 mg/dia por 5 dias a cada 14 dias. A paciente foi submetida a ressecção das lesões por toracoscopia vídeo-assistida. O exame histológico demonstrou necrose sem evidência de tumor residual. É importante reconhecer que a persistência de nódulos pulmonares em pacientes com doença trofoblástica gestacional metastática após tratamento e normalização do beta-hCG pode não representar tumor viável mas somente necrose e/ou fibrose.The aim of this report is to present one case of gestational trophoblastic disease with pulmonary metastases apparently persisting despite the return of beta-human chorionic gonadotropin (beta-hCG to normal levels after five cycles of chemotherapy (20 mg methotrexate/day for 5 days. The patient was submitted to a video-assisted thoracoscopy and the nodules were excised. Histological examination showed tissue necrosis without evidence of residual tumor. It is important to recognize that persistent nodules in the lungs of patients with metastatic gestational disease after treatment and normal beta-hCG titers may not represent viable tumor but rather necrosis and/or fibrosis.

  1. ANALISIS GEN HAEMAGGLUTININ PADA VIRUS CAMPAK LIAR

    Subangkit Subangkit

    2015-05-01

    Full Text Available AbstrakPenyakit Campak disebabkan oleh virus campak yang termasuk genus Morbilivirus dan Family Paramyxoviridae. Penyakit campak masih menjadi masalah kesehatan karena masih ditemukan Kejadian Luar Biasa (KLB di Indonesia. Salah satu penyebab terjadinya KLB tersebut diduga sebagaiakibat perbedaan antigenesitas antara strain vaksin yang digunakan dengan strain virus campak liar yang beredar di Indonesia. Penelitian ini bertujuan mendapatkan gambaran tentang karakteristik genetik gen Haemagglutinin virus campak liar yang ada di Indonesia. Spesimen yang digunakan sebanyak 27 isolat virus penyebab KLB dari 17 propinsi selama periode tahun 2003-2010. Isolat virus dilakukan pemeriksaan secara RT-PCR dan sekuensing dengan metode Sanger. Hasil sekuensing dianalisis dengan menggunakan perangkat lunak Bioedit 7.0 dan MEGA 4.0. Hasil penelitian didapatkan perbedaan 10 asam amino antara virus campak strain vaksin CAM-70 dan virus campak liar pada posisi D416N; K424T; V451M; N455T; V466I; I473T; F476L; Y481S atau Y481N; H495N; G505D. Kesimpulan penelitian ini adalah terdapat perbedaan karakteristik genetik antara virus campak liar di Indonesia berbeda dengan strain virus vaksin CAM-70.Kata kunci : Campak, Analisis Molekuler, Hemagglutinin, CD46AbstractMeasles is caused by virus belonging to the genus Morbilivirus and Family Paramyxoviridae. Measles is still a public health problem because outbreak of measles still found in Indonesia. Outbreak is suspected as a result of differences in antigenicity between vaccine strains used with wild-type measles virus strains circulating in Indonesia. This study aims to get genetic characteristics of wild-type measles virus haemagglutinin gene in Indonesia. The specimens were used 27 viral isolates from 17 provinces period 2003-2010. Viral isolates examined by RT-PCR and sequencing with Sanger method. Sequencing analysis were conducted using Bioedit 7.0 and MEGA 4.0 software. The results showed 10 amino acid differences

  2. Genética e hanseníase

    Bernardo Beiguelman

    Full Text Available As diferentes linhas de pesquisa utilizadas para investigar a importância dos fatores hereditários humanos na determinação da resistência/suscetibilidade à infecção pelo Mycobacterium leprae foram discutidas no presente trabalho. Uma síntese dessas abordagens permitiu analisar os resultados das investigações sobre associação da hanseníase com polimorfismos genéticos, distribuição familial da hanseníase, prevalência da hanseníase e distância genética, concordância da hanseníase em gêmeos e estudos genéticos sobre a reação de Mitsuda.

  3. Individual and Combined Effects of ApoE and MTHFR 677C/T Polymorphisms on Cognitive Performance in Spanish Adolescents: The AVENA Study RID C-7661-2009

    Ruiz, Jonatan R.; Castillo, Ruth; Labayen, Idoia; Moreno López, Luis A.; García Fuentes, Miguel; González Lamuno, Domingo; Álvarez Granda, Jesús L.; Lucía Mulas, Alejandro; Ortega, Francisco B.; Avena Study Group

    2010-01-01

    Objective To examine the individual and combined associations of ApoE and MTHFR 677C/T polymorphisms with cognitive performance in adolescents. Study design The study comprised 412 Spanish adolescents (13 to 18.5 years of age). Cognitive performance (verbal, numeric and reasoning abilities, and an overall score) was measured by the Spanish-version of the SRA-Test of Educational-Ability. Results We observed no differences in the cognitive performance study variables in adolescents carrying or ...

  4. Craniostenose em gêmeos: estudo genético

    Walter Carlos Pereira

    1968-09-01

    Full Text Available É relatada a ocorrência de formas clínicas diversas de craniostenose em gêmeos de sexo diferente. A menina apresentava obliteração completa da sutura coronaria e dos dois terços anteriores da sutura sagital; no menino a sutura sagital era a única afetada. O estudo genético mostrou que a craniostenose independe de aberrações cromossômicas, indicando ser transmitida por gens recessivos raros de natureza autossômica.

  5. Introducing AstroGen: the Astronomy Genealogy Project

    Tenn, Joseph S.

    2016-12-01

    The Astronomy Genealogy Project (AstroGen), a project of the Historical Astronomy Division of the American Astronomical Society (AAS), will soon appear on the AAS website. Ultimately, it will list the world's astronomers with their highest degrees, theses for those who wrote them, academic advisors (supervisors), universities, and links to the astronomers or their obituaries, their theses when online, and more. At present the AstroGen team is working on those who earned doctorates with astronomy-related theses. We show what can be learned already, with just ten countries essentially completed.

  6. Improvement of Steam Generator Reliability for GEN-IV SFR

    Kim, Seong O; Kim Se Yun; Kim, Seok Hoon; Eoh, Jae Hyuk; Lee, Hyeong Yeon; Choi, Byung Seon

    2005-11-15

    The R and D items performed in this study were selected from the R and D task of ' Reliability improvement of Steam Generator' of GEN-IV SFR Component Design and BOP. Since this project deals with one of the most important issues for a GEN-IV SFR system, it needs to enhance the domestic technical backgrounds associated with the corresponding R and D items even for a very short period by 2005. This study provides the R and D results for i) Development of assessment methodology for dissimilar metal weld and ii) Development of multi-dimensional simulation methodology for a SWR event in a SFR steam generator.

  7. Improvement of Steam Generator Reliability for GEN-IV SFR

    Kim, Seong O; Kim Se Yun; Kim, Seok Hoon; Eoh, Jae Hyuk; Lee, Hyeong Yeon; Choi, Byung Seon

    2005-11-01

    The R and D items performed in this study were selected from the R and D task of ' Reliability improvement of Steam Generator' of GEN-IV SFR Component Design and BOP. Since this project deals with one of the most important issues for a GEN-IV SFR system, it needs to enhance the domestic technical backgrounds associated with the corresponding R and D items even for a very short period by 2005. This study provides the R and D results for i) Development of assessment methodology for dissimilar metal weld and ii) Development of multi-dimensional simulation methodology for a SWR event in a SFR steam generator

  8. La genética de las poblaciones centroamericanas

    Barrantes, Ramiro

    2005-01-01

    Las poblaciones centroamericanas no han sido objeto de muchos estudios genéticos con la excepción de análisis esporádicos de la variación entre y dentro de los grupos amerindios y de origen africano ubicados en el área. No obstante, en los últimos 15 años se efectuaron investigaciones sistemáticas en este sentido incluyendo poblaciones mestizas, particularmente las de Costa Rica y Panamá. En los amerindios se efectuaron estudios detallados de su estructura genética y las relaciones filogenéti...

  9. Genes and proteins of Escherichia coli (GenProtEc).

    Riley, M; Space, D B

    1996-01-01

    GenProtEc is a database of Escherichia coli genes and their gene products, classified by type of function and physiological role and with citations to the literature for each. Also present are data on sequence similarities among E.coli proteins with PAM values, percent identity of amino acids, length of alignment and percent aligned. The database is available as a PKZip file by ftp from mbl.edu/pub/ecoli.exe. The program runs under MS-DOS on IMB-compatible machines. GenProtEc can also be accessed through the World Wide Web at URL http://mbl.edu/html/ecoli.html.

  10. Movimentos respiratórios fetais em gestações com diabetes mellitus pré-gestacional Fetal breathing movements in pregnancies complicated by pregestational diabetes mellitus

    Roseli Mieko Yamamoto Nomura

    2007-07-01

    Full Text Available OBJETIVO: analisar o padrão dos movimentos respiratórios fetais (MRF em gestantes diabéticas no terceiro trimestre de gestação. MÉTODOS: foram avaliadas 16 gestantes com diabetes mellitus pré-gestacional e 16 gestantes normais (grupo controle, com os seguintes critérios de inclusão: gestação única entre a 36ª e a 40ª semana, ausência de outras doenças maternas e ausência de anomalias fetais. No perfil biofísico fetal (PBF, foram avaliados os parâmetros: freqüência cardíaca fetal, MRF, movimentos corpóreos fetais, tônus fetal e índice de líquido amniótico. Os MRF foram avaliados por 30 minutos, período em que o exame foi integralmente gravado em fita de vídeo VHS para posterior análise do número de episódios de MRF, do tempo de duração dos episódios e do índice de movimentos respiratórios fetais (IMR. O IMR foi calculado pela fórmula: (intervalo de tempo com MRF/tempo de observação x 100. No início e no final do PBF foi dosada a glicemia capilar materna. Os resultados foram analisados pelo teste de Mann-Whitney U e teste exato de Fisher, adotando-se nível de significância de 5%. RESULTADOS: as glicemias demonstraram média significativamente superior nas diabéticas (113,3±35,3 g/dL em relação às gestantes normais (78,2±14,8 g/dL, pPURPOSE: to analyze the pattern of fetal breathing movements (FBM in diabetic pregnant women in the third trimester of pregnancy. METHODS: sixteen pregestational diabetic and 16 nondiabetic (control group pregnant subjects were included fulfilling the following criteria: singleton, between 36-40 weeks of gestation, absence of other maternal diseases and absence of fetal anomalies. The fetal biophysical profile (FBP was performed to evaluate the following parameters: fetal heart rate, FBM, fetal body movements, fetal tone and amniotic fluid index. The FBM was evaluated for 30 minutes, period when the examination was integrally recorded in VHS video for posterior analysis

  11. ACE I/D sequence variants but not MTHFR C677T, is strongly linked to malignant glioma risk and its variant DD genotype may act as a promising predictive biomarker for overall survival of glioma patients.

    Pandith, Arshad A; Qasim, Iqbal; Zahoor, Wani; Shah, Parveen; Bhat, Abdul R

    2018-01-10

    ACE I/D and MTHFR C677T gene polymorphisms can be seen as candidate genes for glioma on the basis of their biological functions and their involvement in different cancers. The aim of this study was to analyze potential association and overall survival between MTHFR C677T and ACE I/D polymorphism in glioma patients in our population. We tested genotype distribution of 112 glioma patients against 141 cancer-free controls from the same region. Kaplan-Meier survival analysis was performed to evaluate overall survival of patients for both genes. No significant differences were found among MTHFR C677T wild type C and variant genotypes CT/TT with glioma patients. In ACE, the distribution of variant ID and DD was found to be significantly higher in glioma cases as compared to controls (pACE DD genotypes were highly presented in glioma cases 26.8% versus 10.6% in controls (pACE DD genotypes had the least estimated overall survival of 13.4months in comparison to 21. 7 and 17.6months for ACE II and I/D genotypes respectively. We conclude ACE I/D polymorphism plays a vital role in predisposition of higher risk for glioma. We also suggest that ACE DD genotypes may act as an important predictive biomarker for overall survival of glioma patients. Copyright © 2017. Published by Elsevier B.V.

  12. The association of factor V G1961A (factor V Leiden), prothrombin G20210A, MTHFR C677T and PAI-1 4G/5G polymorphisms with recurrent pregnancy loss in Bosnian women.

    Jusić, Amela; Balić, Devleta; Avdić, Aldijana; Pođanin, Maja; Balić, Adem

    2018-08-01

    Aim To investigate association of factor V Leiden, prothrombin G20210A, MTHFR C677T and PAI-1 4G/5G polymorphisms with recurrent pregnancy loss in Bosnian women. Methods A total of 60 women with two or more consecutive miscarriages before 20 weeks of gestation with the same partners and without history of known causes or recurrent pregnancy loss were included. A control group included 80 healthy women who had one or more successful pregnancies without history of any complication which could be associated with miscarriages. Genotyping of factor V Leiden, prothrombin G20210A, MTHFR C677T and PAI-1 4G/5G polymorphisms were performed by polymerase chain reaction/restriction fragments length polymorphism method (PCR/RFLP). Results Both factor V Leiden and MTHFR C677T polymorphisms were significantly associated with recurrent pregnancy loss (RPL) in Bosnian women while prothrombin G20210A and PAI-1 4G/5G polymorphisms did not show strongly significant association. Conclusion The presence of thrombophilic polymorphisms may predispose women to recurrent pregnancy loss. Future investigation should be addressed in order to find when carriers of those mutations, polymorphisms should be treated with anticoagulant therapy. Copyright© by the Medical Assotiation of Zenica-Doboj Canton.

  13. ASN’s actions in GEN IV reactors and Sodium Fast Reactors (SFR)

    Belot, Clotilde

    2013-01-01

    The ASN is involved in 3 actions concerning GEN IV: • Overview of nuclear reactor GEN IV systems; • Specific analysis about transmutation; • Prototype reactor ASTRID (SFR). Furthermore theses actions are in the beginning (no conclusions or results available)

  14. A Virtual Reality Framework to Optimize Design, Operation and Refueling of GEN-IV Reactors

    Rizwan-uddin; Nick Karancevic; Stefano Markidis; Joel Dixon; Cheng Luo; Jared Reynolds

    2008-01-01

    Many GEN-IV candidate designs are currently under investigation. Technical issues related to material, safety and economics are being addressed at research laboratories, industry and in academia. After safety, economic feasibility is likely to be the most important criterion in the success of GEN-IV design(s). Lessons learned from the designers and operators of GEN-II (and GEN-III) reactors must play a vital role in achieving both safety and economic feasibility goals

  15. A Virtual Reality Framework to Optimize Design, Operation and Refueling of GEN-IV Reactors.

    Rizwan-uddin; Nick Karancevic; Stefano Markidis; Joel Dixon; Cheng Luo; Jared Reynolds

    2008-04-23

    many GEN-IV candidate designs are currently under investigation. Technical issues related to material, safety and economics are being addressed at research laboratories, industry and in academia. After safety, economic feasibility is likely to be the most important crterion in the success of GEN-IV design(s). Lessons learned from the designers and operators of GEN-II (and GEN-III) reactors must play a vital role in achieving both safety and economic feasibility goals.

  16. Analisis Mutasi Gen Protein X Virus Hbv Pada Penderita Hepatitis B Akut Di Manado

    Fatimawali; Kepel, Billy

    2014-01-01

    Faktor-faktor yang mempengaruhi perkembangan hepatitis B kronis menjadi kanker hati antara lain mutasi pada gen x. Penelitian ini bertujuan untuk mengidentifikasi gen protein x virus HBV dan menganalisis apakah terjadi mutasi gen yang terkait dengan munculnya tumor ganas sirosis hati (HCC). Penelitian ini menggunakan primer untuk proses nested PCR yang telah dirancang sebelumnya. Proses nested PCR terhadap 10 sampel DNA HBV pasien dilakukan untuk mengamplifikasi fragmen DNA gen x dilanjutkan ...

  17. Epidemiologia genética: epidemiologia, genética ou nenhuma das anteriores?

    Aguinaldo Gonçalves

    1990-12-01

    Full Text Available No esforço de contribuir para melhor entendimento da identidade da Epidemiologia Genética, são revistas sua concepção, campo de atuação, métodos e técnicas pertinentes e algumas instâncias de aplicação. Entendendo-a como a área de interesse dos fatores genéticos das doenças e suas interações ambientais, apresenta-se seu campo de atuação como constituído por dois segmentos: um descritivo, que lida com conhecimento da distribuição de tais afecções em famílias e populações, seu impacto a nível do coletivo e sua vigilância epidemiológica, bem como o estudo de seus determinantes; o segundo, caracterizado pela intervenção, refere-se às respectivas medidas preventivas. Em que pese possível limitação pela não-consideração de todas as situações existentes, particular atenção é destinada à revisão de métodos e técnicas que possam ser convergentemente aplicados, a partir de procedimentos genéticos e epidemiológicos. Entre eles, destacam-se como estudos de casos tanto metodologias laboratoriais (como os dermatóglifos quanto quantitativos, como cálculo de herdabilidade e análise multivariada. Alguns objetos de estudo são tomados como instância de aplicação, por contarem com investigações específicas em nosso meio: a hanseníase, o hidrargirismo e a esquizofrenia.In an attempt to contribute to a better undestanding of the identity of Genetic Epidemiology, we review its conception, its field of influence, its appropriate methods and techniques and, at last, some of its applications. Genetic Epidemiology involves the study of genetic factors acting on diseases and on their environmental interactions. These includes two major areas: a descriptive one, related to the distribution of such conditions in families and populations, to the epidemiologic surveillance and to the study of determinants; and another characterized by intervention, which is related to preventive measures. Because of the dificulty in

  18. Revision of Corallinaceae (Corallinales, Rhodophyta): recognizing Dawsoniolithon gen. nov., Parvicellularium gen. nov. and Chamberlainoideae subfam. nov. containing Chamberlainium gen. nov. and Pneophyllum.

    Caragnano, Annalisa; Foetisch, Alexandra; Maneveldt, Gavin W; Millet, Laurent; Liu, Li-Chia; Lin, Showe-Mei; Rodondi, Graziella; Payri, Claude E

    2018-03-25

    A multi-gene (SSU, LSU, psbA and COI) molecular phylogeny of the family Corallinaceae (excluding the subfamilies Lithophylloideae and Corallinoideae) showed a paraphyletic grouping of six monophyletic clades. Pneophyllum and Spongites were reassessed and recircumscribed using DNA sequence data integrated with morpho-anatomical comparisons of type material and recently collected specimens. We propose Chamberlainoideae subfam. nov., including the type genus Chamberlainium gen. nov., with C. tumidum comb. nov. as the generitype, and Pneophyllum. Chamberlainium is established to include several taxa previously ascribed to Spongites, the generitype of which currently resides in Neogoniolithoideae. Additionally we propose two new genera, Dawsoniolithon gen. nov. (Metagoniolithoideae), with D. conicum comb. nov. as the generitype and Parvicellularium gen. nov. (subfamily incertae sedis), with P. leonardi sp. nov. as the generitype. Chamberlainoideae has no diagnostic morpho-anatomical features that enable one to assign specimens to it without DNA sequence data, and it is the first subfamily to possess both Type 1 (Chamberlainium) and Type 2 (Pneophyllum) tetra/bisporangial conceptacle roof development. Two characters distinguish Chamberlainium from Spongites: tetra/biasporangial conceptacle chamber diameter (300 μm in Spongites) and tetra/bisporangial conceptacle roof thickness (8 cells in Spongites). Two characters also distinguish Pneophyllum from Dawsoniolithon: tetra/bisporangial conceptacle roof thickness (8 cells in Dawsoniolithon) and thallus construction (dimerous in Pneophyllum vs. monomerous in Dawsoniolithon). This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  19. A Novel Role of Human Holliday Junction Resolvase GEN1 in the Maintenance of Centrosome Integrity

    Gao, M.; Danielsen, Jannie Michaela Rendtlew; Wei, L.-Z.

    2012-01-01

    but not catalytic activity of GEN1 is required for preventing centrosome hyper-amplification, formation of multiple mitotic spindles, and multi-nucleation. Our findings provide novel insight into the biological functions of GEN1 by uncovering an important role of GEN1 in the regulation of centrosome integrity....

  20. Optimal trading strategy for GenCo in LMP-based and bilateral ...

    cboonchu

    GenCo) ... In Li and Shahidehpour (2005), a game-based bidding strategy for GenCos with ..... With the different demands, dispatched levels of GenCos vary as shown in Table 6. .... optimisation, AI applications to power systems, and power system ...

  1. GenBank blastn search result: AK064582 [KOME

    Full Text Available AK064582 002-112-F03 AY007820.1 Daucus carota ATPase8 (ATP8) gene, ATP8-Sp1b allele, complete cds; chimeric... ATPase9 (ATP9) gene, ATP9-Sp3 allele, complete cds; and chimeric ATPase6 (ATP6) gen

  2. Safer Systems: A NextGen Aviation Safety Strategic Goal

    Darr, Stephen T.; Ricks, Wendell R.; Lemos, Katherine A.

    2008-01-01

    The Joint Planning and Development Office (JPDO), is charged by Congress with developing the concepts and plans for the Next Generation Air Transportation System (NextGen). The National Aviation Safety Strategic Plan (NASSP), developed by the Safety Working Group of the JPDO, focuses on establishing the goals, objectives, and strategies needed to realize the safety objectives of the NextGen Integrated Plan. The three goal areas of the NASSP are Safer Practices, Safer Systems, and Safer Worldwide. Safer Practices emphasizes an integrated, systematic approach to safety risk management through implementation of formalized Safety Management Systems (SMS) that incorporate safety data analysis processes, and the enhancement of methods for ensuring safety is an inherent characteristic of NextGen. Safer Systems emphasizes implementation of safety-enhancing technologies, which will improve safety for human-centered interfaces and enhance the safety of airborne and ground-based systems. Safer Worldwide encourages coordinating the adoption of the safer practices and safer systems technologies, policies and procedures worldwide, such that the maximum level of safety is achieved across air transportation system boundaries. This paper introduces the NASSP and its development, and focuses on the Safer Systems elements of the NASSP, which incorporates three objectives for NextGen systems: 1) provide risk reducing system interfaces, 2) provide safety enhancements for airborne systems, and 3) provide safety enhancements for ground-based systems. The goal of this paper is to expose avionics and air traffic management system developers to NASSP objectives and Safer Systems strategies.

  3. An electronic flight bag for NextGen avionics

    Zelazo, D. Eyton

    2012-06-01

    The introduction of the Next Generation Air Transportation System (NextGen) initiative by the Federal Aviation Administration (FAA) will impose new requirements for cockpit avionics. A similar program is also taking place in Europe by the European Organisation for the Safety of Air Navigation (Eurocontrol) called the Single European Sky Air Traffic Management Research (SESAR) initiative. NextGen will require aircraft to utilize Automatic Dependent Surveillance-Broadcast (ADS-B) in/out technology, requiring substantial changes to existing cockpit display systems. There are two ways that aircraft operators can upgrade their aircraft in order to utilize ADS-B technology. The first is to replace existing primary flight displays with new displays that are ADS-B compatible. The second, less costly approach is to install an advanced Class 3 Electronic Flight Bag (EFB) system. The installation of Class 3 EFBs in the cockpit will allow aircraft operators to utilize ADS-B technology in a lesser amount of time with a decreased cost of implementation and will provide additional benefits to the operator. This paper describes a Class 3 EFB, the NexisTM Flight-Intelligence System, which has been designed to allow users a direct interface with NextGen avionics sensors while additionally providing the pilot with all the necessary information to meet NextGen requirements.

  4. Justicia y genética: compensando las diferencias

    Alejandra Zúñiga-Fajuri

    2013-01-01

    Full Text Available Se analizan los dilemas morales asociados a los avances científicos que en la actualidad nos exigen repensar el concepto de igualdad equitativa de oportunidades. Asimismo, se pasa revista a la discusión filosófica en torno al origen de las desventajas sociales y genéticas que permiten las desigualdades sociales.

  5. Distributed Generation Market Demand Model (dGen): Documentation

    Sigrin, Benjamin [National Renewable Energy Lab. (NREL), Golden, CO (United States); Gleason, Michael [National Renewable Energy Lab. (NREL), Golden, CO (United States); Preus, Robert [National Renewable Energy Lab. (NREL), Golden, CO (United States); Baring-Gould, Ian [National Renewable Energy Lab. (NREL), Golden, CO (United States); Margolis, Robert [National Renewable Energy Lab. (NREL), Golden, CO (United States)

    2016-02-01

    The Distributed Generation Market Demand model (dGen) is a geospatially rich, bottom-up, market-penetration model that simulates the potential adoption of distributed energy resources (DERs) for residential, commercial, and industrial entities in the continental United States through 2050. The National Renewable Energy Laboratory (NREL) developed dGen to analyze the key factors that will affect future market demand for distributed solar, wind, storage, and other DER technologies in the United States. The new model builds off, extends, and replaces NREL's SolarDS model (Denholm et al. 2009a), which simulates the market penetration of distributed PV only. Unlike the SolarDS model, dGen can model various DER technologies under one platform--it currently can simulate the adoption of distributed solar (the dSolar module) and distributed wind (the dWind module) and link with the ReEDS capacity expansion model (Appendix C). The underlying algorithms and datasets in dGen, which improve the representation of customer decision making as well as the spatial resolution of analyses (Figure ES-1), also are improvements over SolarDS.

  6. Meet Mr. and Mrs. Gen X: A New Parent Generation

    Howe, Neil

    2010-01-01

    Slowly but surely, Generation Xers have been taking over from Baby Boomers as the majority of parents in elementary and secondary education. In the early 1990s, Gen Xers began joining parent-teacher associations in the nation's elementary schools. Around 2005, they became the majority of middle school parents. By the fall of 2008, they took over…

  7. PowerGen plc report and accounts 1994

    1994-01-01

    The annual report and accounts of PowerGen plc for the year 1994 are presented. Financial highlights are quoted, followed by the Chairman's statement, reviews by the Chief Executive and Financial Directors, reports by the Auditors and Directors, balance sheets and details of the consolidated profit and loss account and principal accounting policies. A four year summary and shareholder information are included. (UK)

  8. Measuring Gen-Y Customer Experience in the Banking Sector

    Kyguolienė Asta

    2017-12-01

    Full Text Available The article analyses customer experience as the subject of marketing research and presents methods for assessing customer experience. The results of empirical research revealing the Gen-Y customer experience in using the Lithuanian commercial banks’ services are presented.

  9. A New Parent Generation: Meet Mr. and Mrs. Gen X

    Howe, Neil

    2010-01-01

    Slowly but surely, Generation Xers have been taking over from Baby Boomers as the majority of parents in elementary and secondary education. Gen-X parents and Boomer parents belong to two neighboring generations, each possessing its own location in history and its own peer personality. They are similar in some respects, but clearly different in…

  10. GenSVM: a generalized multiclass support vector machine

    G.J.J. van den Burg (Gertjan); P.J.F. Groenen (Patrick)

    2016-01-01

    textabstractTraditional extensions of the binary support vector machine (SVM) to multiclass problems are either heuristics or require solving a large dual optimization problem. Here, a generalized multiclass SVM is proposed called GenSVM. In this method classification boundaries for a K-class

  11. Pemotongan dan Menyambung DNA dalam Kloning Gen, Studi pada Kloning Gen Prolidase dari Bakteri Asam Laktat

    Ketut Suriasih

    2015-03-01

    Full Text Available Gene cloning in lactic acid bacteria (LAB is crucial in term to increase their ability to hydrolyze milk protein such as proline. This proline could be hydrolyzed when the LAB undergone cloning on their genome coding the enzyme. The cloning process need technology to separate/isolate the gene capable of proline hydrolyze. Isolation of DNA containing prolidase gene, need DNA genome cutting. After isolation of DNA gene coding prolidase, it is then recombined with other bacterial DNA to obtained recombinant gene. The process need ligase. In gene cloning, knowledge of cutting and joining the DNA should be understood. The enzyme take the role in cutting and joining the DNA were restriction endonuclease and ligase. The restriction enzyme function (1 in inserting a gen into plasmid contained in a vector during gene cloning, and gene expression experiment, and (2 to identify the gene. It is important that the researcher already have standardized  sequenced gene as control. The DNA contained target gene was cut using some restriction enzyme, then the gene was arrayed in electrophoresis gel using southern blot technique. DNA sequence was elucidated by addition of ethydium bromide. To identify/characterize the isolated gene, this DNA sequence was encountered the control DNA.

  12. Coronary artery disease and the frequencies of MTHFR and PON1 gene polymorphism studies in a varied population of Hyderabad, Telangana region in south India

    Kavitha Matam

    2015-04-01

    Full Text Available Coronary artery disease (CAD also known as coronary heart disease is one of the leading causes of death and disability worldwide. Genetic and environmental factors play an important role in the pathogenesis and progression of CAD. The aim of this study was to evaluate the combined contribution of 3 gene polymorphisms to the risk of CAD and gene–gene interaction in the south Indian population. In this case-control study, 200 cases of CAD and 200 healthy controls were recruited. We studied 3 well known genetic polymorphisms of MTHFR (C677T; rs1801133, PON1 (Q192R; rs662 and ACE (I/D: rs4646994 in relation to CAD in South Indian population. Polymerase chain reaction (PCR was carried out and followed by the restriction fragment length polymorphism and agarose gel electrophoresis. Genotypes of MTHFR C677T, CT and CT+TT, and PON1 Q192R QR were associated with the risk of CAD (C677T CT+TT vs CC: odds ratio [OR] = 3.3, 95% confidence intervals [CI] = 1.8–6.2; p = 0.00001, (CT vs CC: OR = 3.2, 95%CI = 1.8–5.6; p = 0.00003, and (Q192R QQ vs QR: OR = 2.1, 95%CI = 1.1–3.9; p = 0.03. The allele frequencies for T vs C: OR = 3.1, 95%CI = 1.8–5.3; p = 0.00001 and R vs Q: OR = 1.3, 95% CI = 1.0–1.7 p = 0.03. Multifactor dimensionality reduction (MDR analysis was carried out with the combination of three genes and the results indicate that MDR analysis showed that, PON1 gene polymorphism formed a significant model in predicting the CAD risk in south Indian population.

  13. A novel multiplex PCR-RFLP method for simultaneous detection of the MTHFR 677 C > T, eNOS +894 G > T and - eNOS -786 T > C variants among Malaysian Malays

    Loo Keat

    2012-05-01

    Full Text Available Abstract Background Hyperhomocysteinemia as a consequence of the MTHFR 677 C > T variant is associated with cardiovascular disease and stroke. Another factor that can potentially contribute to these disorders is a depleted nitric oxide level, which can be due to the presence of eNOS +894 G > T and eNOS −786 T > C variants that make an individual more susceptible to endothelial dysfunction. A number of genotyping methods have been developed to investigate these variants. However, simultaneous detection methods using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP analysis are still lacking. In this study, a novel multiplex PCR-RFLP method for the simultaneous detection of MTHFR 677 C > T and eNOS +894 G > T and eNOS −786 T > C variants was developed. A total of 114 healthy Malay subjects were recruited. The MTHFR 677 C > T and eNOS +894 G > T and eNOS −786 T > C variants were genotyped using the novel multiplex PCR-RFLP and confirmed by DNA sequencing as well as snpBLAST. Allele frequencies of MTHFR 677 C > T and eNOS +894 G > T and eNOS −786 T > C were calculated using the Hardy Weinberg equation. Methods The 114 healthy volunteers were recruited for this study, and their DNA was extracted. Primer pair was designed using Primer 3 Software version 0.4.0 and validated against the BLAST database. The primer specificity, functionality and annealing temperature were tested using uniplex PCR methods that were later combined into a single multiplex PCR. Restriction Fragment Length Polymorphism (RFLP was performed in three separate tubes followed by agarose gel electrophoresis. PCR product residual was purified and sent for DNA sequencing. Results The allele frequencies for MTHFR 677 C > T were 0.89 (C allele and 0.11 (T allele; for eNOS +894 G > T, the allele frequencies were 0.58 (G allele and 0.43 (T allele; and for eNOS −786 T > C, the allele

  14. Actividad física durante embarazo, su relación con la edad gestacional materna y el peso de nacimiento. (Physical activity during pregnancy, its relationship to gestational age y birth weight.

    Ruben Barakat Carballo

    2010-07-01

    Full Text Available ResumenHistóricamente la relación entre la actividad física y el embarazo no ha estado completamente clara. La gran cantidad de estudios científicos no han producido suficientes hallazgos que otorguen información clara y concreta sobre la dosis adecuada de ejercicio durante la gestación. El presente trabajo pretende conocer la relación entre los hábitos de actividad física durante el embarazo y la edad gestacional materna al momento del parto, así como el peso del recién nacido. Se ha utilizado un estudio de tipo transversal, de casos y controles, retrospectivo, 473 mujeres del área de Madrid han sido entrevistadas, edad entre 17 y 41 años, (media= 31,9±4. Todas ellas caucásicas y de origen hispano. Nuestros resultados muestran en el grupo de casos una edad gestacional similar (273±9,1 días al de control (278±9,5, y recién nacidos con pesos inferiores (3171±443 que las que no desarrollan ningún tipo de actividad física regular o programada (3289±583 (p=0,01. El ejercicio físico desarrollado durante el embarazo reduce aparentemente el peso del recién nacido y no tiene influencia en la edad gestacional materna.AbstractHistorically the relationship between physical activity and pregnancy has not been totally clear. Despite the large number of scientific studies carried out, the appropriate amount of exercise during pregnancy is still not clarified and the question remains open. The aim of the present study was to understand the relationship between the physical activity habits during pregnancy and the maternal gestational age at the moment of the childbirth, as well as the weight of the newborn. A transversal study type has been used, involving two groups of cases and control, retrospective, and 473 women of the city of Madrid (age between 17 y 41 - mean= 31,9±4 have been interviewed. All of them were Caucasian y with Hispanic origin. According to our results, the cases group shows a similar gestational age (273±9,1 days

  15. Justicia en salud y genética

    Maria Graciela De Ortuzar

    2014-06-01

    Full Text Available Las expectativas puestas en el conocimiento genético exceden el ámbito de la medicina tradiciona, debido a que la intervención directa en la lotería natural demandaría el replanteamiento de conceptos centrales de justicia en salud: necesidades médicas, enfermedad, normalidad, e igualdad de oportunidades en el acceso a la salud. El punto en debate es sí el replanteo de dichos conceptos conlleva un cambio radical en las teorías de justicia (libertariana y/o liberal, mostrando su obsolescencia, o sí simplemente se requiere ampliar dichos conceptos claves por fallas estructurales en las mismas teorías. Como hipótesis general considero que los supuestos cuestionamientos, lejos de socavar las bases de las teorías de justicia, sólo ponen en evidencia sus viejos problemas estructurales. Por razones expositivas, dividiré la presentación tres partes. En la Primera parte, analizo la teoría libertariana, estudiando las contradicciones del modelo a través del impacto de la información genética en el seguro privado de salud. En la Segunda Parte, desarrollo la propuesta alternativa liberal rawlsianadanielsiana del modelo de seguro público, evaluando las implicaciones de la genética a partir de la crítica de su concepto biológico de enfermedad y su restricción al acceso a la salud por necesidades naturales. En la Tercera parte presento un modelo integral de necesidades y capacidades básicas, comprendiendo la prevención, el tratamiento y el mejoramiento moralmente permisible (genético y no genético.Mi aporte principal consiste en la elaboración de este modelo normativo integral de necesidades y capacidades para la regulación conjunta de la información y terapia genética con los restantes problemas de salud.

  16. Perda auditiva genética Genetic hearing loss

    Ricardo Godinho

    2003-01-01

    Full Text Available O progresso das pesquisas relacionadas à perda auditiva genética tem provocado um importante avanço do entendimento dos mecanismos moleculares que governam o desenvolvimento, a função, a resposta ao trauma e o envelhecimento do ouvido interno. Em países desenvolvidos, mais de 50% dos casos de surdez na infância é causada por alterações genéticas e as perdas auditivas relacionadas à idade têm sido associadas com mecanismos genéticos. OBJETIVO: O objetivo desta revisão é relatar as informações mais recentes relacionadas às perdas audtivas de origem genética. FORAMA DE ESTUDO: Revisão sistemática. MATERIAL E MÉTODO: A revisão da literatura inclui artigos indexados à MEDLINE (Biblioteca Nacional de Saúde, NIH-USA e publicados nos últimos 3 anos, além das informações disponíveis na Hereditary Hearing Loss Home Page. CONCLUSÃO: Os recentes avanços no entendimento das perdas auditivas de origem genética têm favorecido a nossa compreensão da função auditiva e tornado o diagnóstico mais apurado. Possivelmente, no futuro, este conhecimento também proporcionará o desenvolvimento de novas terapias para o tratamento das causas genéticas das perdas auditivas.The progress in the research of genetic hearing loss has advanced our understanding of the molecular mechanisms that govern inner ear development, function and response to injury and aging. In the developed world, over 50% of childhood deafness is attributable to genetic causes and even age-related hearing loss has been associated with genetic mechanisms. AIM: The objective of this review is to summarize recent knowledge in genetic hearing loss. STUDY DESIGN: Sistematic review. MATERIAL AND METHODS: The literature review included articles indexed at MEDLINE (The National Library of Medicine, The National Institute of Health - USA focusing on publications from the past 3 years plus the information available at the Hereditary Hearing Loss Home Page. CONCLUSION

  17. Analysis of Polymorphisms in Genes (AGT, MTHFR, GPIIIa, and GSTP1) Associated with Hypertension, Thrombophilia and Oxidative Stress in Mestizo and Amerindian Populations of México

    Juárez-Velázquez, Rocio; Canto, Patricia; Canto-Cetina, Thelma; Rangel-Villalobos, Hector; Rosas-Vargas, Haydee; Rodríguez, Maricela; Canizales-Quinteros, Samuel; Velázquez Wong, Ana Claudia; Ordoñez-Razo, Rosa María; Vilchis-Dorantes, Guadalupe; Coral-Vázquez, Ramón Mauricio

    2010-01-01

    Several polymorphisms related to hypertension, thrombophilia, and oxidative stress has been associated with the development of cardiovascular disease. We analyzed the frequency of M235T angiotensinogen (AGT), A222V 5,10 methylenete-trahydrofolate reductase (MTHFR), L33P glycoprotein IIIa (GPIIIa), and I105V glutathione S-transferase P1 (GSTP1) polymorphisms in 285 individuals belonging to Mexican-Mestizo and five Amerindian population from México, by real time PCR allelic discrimination. Allele and genotype frequencies were compared using χ2 tests. All populations followed the Hardy Weinberg equilibrium for assay markers with the exception of the Triki, whose were in Hardy Weinberg dysequilibrium for the glutathione S-transferase P1 polymorphism. Interestingly, according to all the analyzed single nucleotide polymorphisms (SNPs), the Triki population was the most differentiated and homogeneous group of the six populations analyzed. A comparison of our data with those previously published for some Caucasian, Asian and Black populations showed quite significant differences. These differences were remarkable with all the Mexican populations having a lower frequency of the 105V allele of the glutathione S-transferase P1 and reduced occurrence of the 222A allele of the 5,10 methylenetetrahydrofolate reductase. Our results show the genetic diversity among different Mexican populations and with other racial groups. PMID:20592457

  18. Genética e hanseníase

    Beiguelman Bernardo

    2002-01-01

    As diferentes linhas de pesquisa utilizadas para investigar a importância dos fatores hereditários humanos na determinação da resistência/suscetibilidade à infecção pelo Mycobacterium leprae foram discutidas no presente trabalho. Uma síntese dessas abordagens permitiu analisar os resultados das investigações sobre associação da hanseníase com polimorfismos genéticos, distribuição familial da hanseníase, prevalência da hanseníase e distância genética, concordância da hanseníase em gêmeos e est...

  19. Estructura y diversidad genética en vacas Holstein de Antioquia usando un polimorfismo del gen bGH

    Juan Rincon F.

    2013-03-01

    Full Text Available Objetivo. Determinar las frecuencias alélicas y genotípicas del polimorfismo del intrón 3 del gen bGH y estimar algunos parámetros de estructura poblacional en ganado Holstein. Materiales y métodos. El estudio se realizó con 1366 vacas Holstein en 120 hatos de 11 municipios del departamento de Antioquia. Se extrajo DNA por el método de Salting out y la genotipificación se realizó usando la técnica de PCR-RFLPs. La diversidad genética se determinó mediante la comparación de las heterocigosidades, El equilibrio de Hardy-Weinberg (HW y la diferenciación genética entre las poblaciones se realizó usando el software Arlequín 2.0 Las frecuencias alélicas y genotípicas se evaluaron mediante el paquete estadístico SAS®. Resultados. Las frecuencias genotípicas encontradas fueron 0.764 (+/+, 0.223 (+/- y 0.013 (-/- y las frecuencias alélicas 0.876 (+ y 0.124 (-. No se encontraron desviaciones del Equilibrio de Hardy Weinberg en ninguna de las subpoblaciones. La diversidad genética determinada mediante la comparación de las heterocigosidades fue relativamente baja entre poblaciones pero al interior de estas no. El valor de FST de toda la población fue de 0.0068 y significativo (p<0.05, algunos FST pareados también lo fueron, tomando valores desde 0.0 a 0.13. Los estadísticos FIT y FIS no fueron significativos. Conclusiones. El gen bGH es un candidato interesante para evaluar características de importancia económica ya que no parece haber sido sometido a selección directa, presenta una variabilidad media en las poblaciones, observándose diferenciación genética significativa entre distintos municipios, producto de los diferentes sistemas de producción y acceso a las biotecnologías.

  20. Síndrome hipertensiva da gravidez e diabetes mellitus gestacional em uma maternidade pública de uma capital do Nordeste brasileiro, 2013: prevalência e fatores associados

    Alane Cabral Menezes de Oliveira

    Full Text Available OBJETIVO: avaliar a prevalência e os fatores associados aos desfechos 'síndrome hipertensiva da gravidez (SHG' e 'diabetes mellitus gestacional (DMG' em uma maternidade pública de Maceió-AL, Brasil. MÉTODOS: estudo transversal, realizado no ano de 2013, no hospital universitário do município, mediante aplicação de formulário padronizado, avaliação antropométrica e consulta a pareceres médicos; foram calculadas razões de prevalência (RP brutas e ajustadas e intervalos de confiança de 95% (IC95%, por regressão de Poisson. RESULTADOS: as prevalências de SHG e DHG foram, respectivamente, de 18,4% e 6,5%; o ganho ponderal excessivo mostrou-se um fator independente associado à prevalência de SHG (RP 2,91; IC95% 1,58;5,35; idade ≥35 anos (RP 4,33; IC95% 1,61;11,69 e sobrepeso (RP 2,97; IC95% 1,05;8,37 associaram-se ao DMG. CONCLUSÃO: a assistência pré-natal deve se organizar para prevenir alguns desses fatores, visando à redução da ocorrência de SHG e DMG.

  1. Repercussões maternas e perinatais da ruptura prematura das membranas até a 26ª semana gestacional Maternal and perinatal outcomes of premature rupture of the membranes up to the 26th week of gestation

    Alessandra Maria Mont'Alverne Pierre

    2003-03-01

    Full Text Available OBJETIVO: avaliar o prognóstico materno e perinatal em casos com amniorrexe prematura ocorridas até a 26ª semana de gravidez. MÉTODOS: análise retrospectiva dos casos de ruptura prematura das membranas ocorridas até a 26ª semana gestacional, sem sinais de trabalho de parto, sem qualquer tratamento para esta condição antes da admissão, acompanhados no período de janeiro de 1994 a dezembro de 1999. Os casos com idade gestacional menor que 22 semanas e peso ao nascimento inferior a 500 gramas foram excluídos. A amniorrexe foi confirmada pelo exame especular. Em caso de dúvida realizaram-se o teste da cristalização e a determinação do pH. Todas as grávidas foram submetidas a exame ultra-sonográfico para determinação da idade gestacional e índice de líquido amniótico. Os dados referentes ao resultado final da gravidez e as conseqüências para mãe, feto e neonato foram tabulados. RESULTADOS: preencheram os critérios de inclusão 29 casos de amniorrexe prematura. A ruptura ocorreu entre a 17ª e a 26ª semana, com média de 23,6 semanas. A duração média do período de latência foi de 21,7 dias. Ocorreram 22 partos vaginais espontâneos e três induzidos, além de quatro cesarianas. Houve sinais de infecção antes do parto em seis casos. Em 37,9% dos casos foram administrados antibióticos e em 6,9%, corticóides. Nenhuma paciente foi submetida a tocólise. Ocorreram três óbitos fetais e 25 neonatais. Apenas um recém-nascido sobreviveu, tendo permanecido na unidade de neonatologia por 19 dias devido a infecção e síndrome do desconforto respiratório. Não ocorreram óbitos maternos. CONCLUSÃO: a amniorrexe prematura até a 26ª semana gestacional tem sido doença com prognóstico extremamente sombrio para fetos e neonatos em nossa instituição.PURPOSE: to evaluate maternal and perinatal outcomes of premature rupture of membranes up to the 26th week of gestation. METHODS: retrospective analysis of the cases of

  2. NextGen Avionics Roadmap Version 2.0

    2011-09-30

    Systems Analysis ( IPSA ) Division has defined multiple NextGen Operational (NGOps) Levels, projecting relative performance and risk based on differing...degrees of capability improvements, as shown in Figure 4. IPSA forecasts include the most likely performance NGOps level (i.e., NGOps 3-4), as well...in the near-term. Figures 5 through 9 de- pict the various programs and capabilities aligned with the various NGOps levels. Factors from the IPSA

  3. EVALUATION DE LA SENSIBILITE A Bemisia tabaci (GEN) DE 13 ...

    AISA

    champ, le comportement de 13 variétés de tomate contre la pression de Bemisia tabaci (Gen), une mouche vecteur du virus de la jaunisse en cuillère des ... en saison sèche il y a une vingtaine d'années atteignaient 100 % et les pertes de production ... semaines. Le semis s'est effectué sur une planche de 9 m2 (9 x 1 m2).

  4. SALOME PLATFORM and TetGen for Polyhedral Mesh Generation

    Lee, Sang Yong; Park, Chan Eok; Kim, Shin Whan [KEPCO E and C Company, Inc., Daejeon (Korea, Republic of)

    2014-05-15

    SPACE and CUPID use the unstructured mesh and they also require reliable mesh generation system. The combination of CAD system and mesh generation system is necessary to cope with a large number of cells and the complex fluid system with structural materials inside. In the past, a CAD system Pro/Engineer and mesh generator Pointwise were evaluated for this application. But, the cost of those commercial CAD and mesh generator is sometimes a great burden. Therefore, efforts have been made to set up a mesh generation system with open source programs. The evaluation of the TetGen has been made in focusing the application for the polyhedral mesh generation. In this paper, SALOME will be evaluated for the efforts in conjunction with TetGen. In section 2, review will be made on the CAD and mesh generation capability of SALOME. SALOME and TetGen codes are being integrated to construct robust polyhedral mesh generator. Edge removal on the flat surface and vertex reattachment to the solid are two challenging tasks. It is worthwhile to point out that the Python script capability of the SALOME should be fully utilized for the future investigation.

  5. The GenABEL Project for statistical genomics.

    Karssen, Lennart C; van Duijn, Cornelia M; Aulchenko, Yurii S

    2016-01-01

    Development of free/libre open source software is usually done by a community of people with an interest in the tool. For scientific software, however, this is less often the case. Most scientific software is written by only a few authors, often a student working on a thesis. Once the paper describing the tool has been published, the tool is no longer developed further and is left to its own device. Here we describe the broad, multidisciplinary community we formed around a set of tools for statistical genomics. The GenABEL project for statistical omics actively promotes open interdisciplinary development of statistical methodology and its implementation in efficient and user-friendly software under an open source licence. The software tools developed withing the project collectively make up the GenABEL suite, which currently consists of eleven tools. The open framework of the project actively encourages involvement of the community in all stages, from formulation of methodological ideas to application of software to specific data sets. A web forum is used to channel user questions and discussions, further promoting the use of the GenABEL suite. Developer discussions take place on a dedicated mailing list, and development is further supported by robust development practices including use of public version control, code review and continuous integration. Use of this open science model attracts contributions from users and developers outside the "core team", facilitating agile statistical omics methodology development and fast dissemination.

  6. GEN IV reactors: Where we are, where we should go

    Locatelli, G.; Mancini, M.; Todeschini, N.

    2012-01-01

    GEN IV power plants represent the mid-long term option of the nuclear sector. International literature proposes many papers and reports dealing with these reactors, but there is an evident difference of type and shape of information making impossible each kind of detailed comparison. Moreover, authors are often strongly involved in some particular design; this creates many difficulties in their super-partes position. Therefore it is necessary to put order in the most relevant information to understand strengths and weaknesses of each design and derive an overview useful for technicians and policy makers. This paper presents the state-of the art for GEN IV nuclear reactors providing a comprehensive literature review of the different designs with a relate taxonomy. It presents the more relevant references, data, advantages, disadvantages and barriers to the adoptions. In order to promote an efficient and wide adoption of GEN IV reactors the paper provides the pre-conditions that must be accomplished, enabling factors promoting the implementation and barriers limiting the extent and intensity of its implementation. It concludes outlying the state of the art of the most important R and D areas and the future achievements that must be accomplished for a wide adoption of these technologies. (authors)

  7. Variabilidad genética en Prosopis ferox (Mimosaceae

    Alicia D. Burghardt

    2004-01-01

    Full Text Available Prosopis ferox (Mimosaceae es una especie arbustiva o arbórea espinosa que se distribuye desde el Sur de Bolivia hasta el noroeste de la Argentina. En la provincia de Jujuy se encuentra a grandes alturas (entre los 2400 y los 3700 m s.m.. Existe una gran variabilidad morfológica, especialmente en cuanto a las dimensiones del fruto y la cantidad de semillas por fruto, ambas características importantes debido al uso de esta planta como forraje. Con el objeto de verificar si existe además variabilidad genética, se realizó un estudio electroforético de proteínas seminales de árboles procedentes de distintas localidades de la provincia de Jujuy. Los patrones polipeptídicos obtenidos por SDS-PAGE presentaron en total 26 bandas. Cada población se caracterizó por sus patrones de presencia-ausencia de bandas, habiéndose encontrado variabilidad intrapoblacional (polimorfismo en algunas de ellas, siendo otras genéticamente homogéneas. Los índices polimórficos en poblaciones de P. ferox son comparables a los obtenidos previamente en P. ruscifolia. La variabilidad genética interpoblacional hallada por medio del estudio electroforético de las proteínas seminales hace suponer la existencia de ecotipos

  8. Associação entre o estado nutricional pré-gestacional e a predição do risco de intercorrências gestacionais Association between pre-gestational nutritional status and prediction of the risk of adverse pregnancy outcome

    Patricia de Carvalho Padilha

    2007-10-01

    Full Text Available OBJETIVO: analisar a associação entre o estado nutricional pré-gestacional materno e os desfechos maternos - síndromes hipertensivas da gravidez, diabetes gestacional, deficiência de vitamina A e anemia - e do concepto - baixo peso ao nascer. MÉTODOS: estudo transversal, com 433 puérperas adultas (>20 anos, atendidas na Maternidade Escola da Universidade Federal do Rio de Janeiro (UFRJ e seus respectivos recém-nascidos. As informações foram coletadas em consulta a prontuários e entrevistas. O estado nutricional pré-gestacional materno foi definido por meio do índice de massa corporal pré-gestacional, segundo os pontos de corte para mulheres adultas da World Health Organization (WHO, em 1995. Estimou-se a associação entre os desfechos gestacionais e o estado nutricional pré-gestacional, por meio da odds ratio (OR e intervalo de confiança (IC de 95%. RESULTADOS: a freqüência de desvio ponderal pré-gestacional (baixo peso, sobrepeso e obesidade foi de 31,6%. Considerando-se o estado nutricional pré-gestacional, aquelas com sobrepeso e obesidade apresentaram menor ganho ponderal do que as eutróficas e as com baixo peso (pPURPOSE: to analyze the association between maternal pre-gestational nutritional status and maternal outcomes - hypertensive disorders of pregnancy, gestational diabetes, vitamin A deficiency, and anemia - and the newborn outcome - low birth weight. METHODS: cross-sectional study, with 433 adult puerperal women (> 20 years old and their newborns, attending the Maternidade Escola of Universidade Federal do Rio de Janeiro (UFRJ. Data was collected through interviews and access to their medical records. Maternal pre-gestational nutritional status was established through pre-gestational body mass index according to the cut-offs for adult women defined by the World Health Organization (WHO, in 1995. The association between gestational outcomes and pre-gestational nutritional status was estimated through odds ratio

  9. Divergência, variabilidade genética e desempenho agronômico em genótipos de couve.

    Azevedo, Alcinei Mistico

    2012-01-01

    Embora haja grande variabilidade genética para a couve, são poucos trabalhos no Brasil que visão obter informações para programas de melhoramento genético nesta cultura. Assim, objetivou-se neste trabalho caracterizar 30 genótipos de couve a partir de caracteres morfo-agronômicos para estimar a divergência genética, a importância dos caracteres para a divergência, o desempenho agronômico, os parâmetros genéticos e a correlação entre as características avaliadas. O experimento foi conduzido na...

  10. Crescimento de genótipos de frangos tipo caipira

    R. C. Veloso

    2015-10-01

    Full Text Available RESUMOObjetivou-se com este trabalho comparar o padrão de crescimento, mediante ajustes das respectivas curvas de crescimento por modelos não lineares, bem como estudar o desenvolvimento de cortes de carcaça em relação ao peso da carcaça em diferentes genótipos de frangos tipo caipira. Foram utilizados 840 pintos de um dia, machos, distribuídos em delineamento inteiramente ao acaso, dos seguintes genótipos da linhagem Redbro: Caboclo, Carijó, Colorpak, Gigante Negro, Pesadão Vermelho, Pescoço Pelado e Tricolor. As aves foram alojadas em 28 boxes, sendo 30 aves/boxe, em galpão de alvenaria com acesso a um piquete de 45m², com quatro repetições. O peso corporal individual dos frangos foi medido ao nascer, aos 14, 28, 42, 56, 70 e 84 dias de idade. Para a determinação das curvas de crescimento do peso corporal das aves, os dados coletados foram avaliados por meio dos modelos não lineares: Brody, Gompertz, Logístico, Richards e von Bertalanffy. Foi empregado o PROC NLIN do SAS, utilizando-se o método interativo de Gauss-Newton. Os critérios usados para escolha do modelo de melhor ajuste da curva de crescimento foram o coeficiente de determinação, o desvio padrão assintótico, o desvio médio absoluto dos resíduos e o índice assintótico. As análises para obtenção dos coeficientes alométricos foram realizadas por meio do PROC GLM do SAS para os genótipos Carijó, Colorpak, Pesadão Vermelho, Pescoço Pelado e Tricolor. Foram avaliados os pesos da carcaça, do peito, das coxas, das sobrecoxas, das pernas e das asas das aves abatidas aos 85 dias de idade. Apenas as equações propostas por Gompertz, von Bertalanffy e Logístico atingiram a convergência, e o modelo proposto por von Bertalanffy foi o mais adequado para descrever o crescimento dos genótipos de frangos caipiras. Todos os cortes avaliados apresentaram crescimento tardio em relação ao peso da carcaça em genótipos de frangos tipo caipira.

  11. From AWE-GEN to AWE-GEN-2d: a high spatial and temporal resolution weather generator

    Peleg, Nadav; Fatichi, Simone; Paschalis, Athanasios; Molnar, Peter; Burlando, Paolo

    2016-04-01

    A new weather generator, AWE-GEN-2d (Advanced WEather GENerator for 2-Dimension grid) is developed following the philosophy of combining physical and stochastic approaches to simulate meteorological variables at high spatial and temporal resolution (e.g. 2 km x 2 km and 5 min for precipitation and cloud cover and 100 m x 100 m and 1 h for other variables variable (temperature, solar radiation, vapor pressure, atmospheric pressure and near-surface wind). The model is suitable to investigate the impacts of climate variability, temporal and spatial resolutions of forcing on hydrological, ecological, agricultural and geomorphological impacts studies. Using appropriate parameterization the model can be used in the context of climate change. Here we present the model technical structure of AWE-GEN-2d, which is a substantial evolution of four preceding models (i) the hourly-point scale Advanced WEather GENerator (AWE-GEN) presented by Fatichi et al. (2011, Adv. Water Resour.) (ii) the Space-Time Realizations of Areal Precipitation (STREAP) model introduced by Paschalis et al. (2013, Water Resour. Res.), (iii) the High-Resolution Synoptically conditioned Weather Generator developed by Peleg and Morin (2014, Water Resour. Res.), and (iv) the Wind-field Interpolation by Non Divergent Schemes presented by Burlando et al. (2007, Boundary-Layer Meteorol.). The AWE-GEN-2d is relatively parsimonious in terms of computational demand and allows generating many stochastic realizations of current and projected climates in an efficient way. An example of model application and testing is presented with reference to a case study in the Wallis region, a complex orography terrain in the Swiss Alps.

  12. J3Gen: A PRNG for Low-Cost Passive RFID

    Jordi Herrera-Joancomartí

    2013-03-01

    Full Text Available Pseudorandom number generation (PRNG is the main security tool in low-cost passive radio-frequency identification (RFID technologies, such as EPC Gen2. We present a lightweight PRNG design for low-cost passive RFID tags, named J3Gen. J3Gen is based on a linear feedback shift register (LFSR configured with multiple feedback polynomials. The polynomials are alternated during the generation of sequences via a physical source of randomness. J3Gen successfully handles the inherent linearity of LFSR based PRNGs and satisfies the statistical requirements imposed by the EPC Gen2 standard. A hardware implementation of J3Gen is presented and evaluated with regard to different design parameters, defining the key-equivalence security and nonlinearity of the design. The results of a SPICE simulation confirm the power-consumption suitability of the proposal.

  13. Analysis of association between polymorphisms of MTHFR, MTHFD1 and RFC1 genes and efficacy and toxicity of methotrexate in rheumatoid arthritis patients

    Vejnovic Dubravka

    2016-01-01

    Full Text Available A folate analogue methotrexate (MTX is the most commonly used disease-modifying drug in the treatment of rheumatoid arthritis. However, the clinical response of RA patients treated with MTX shows interindividual differences and 30% of patients discontinue therapy due to the side effects. In a group of 184 RA patients treated with MTX we have investigated whether polymorphisms in MTHFR (rs1801133, rs1801131, MTHFD1 (rs2236225 and RFC1 (rs144320551 genes may have impact on MTX efficacy and/or adverse drugs effects (ADEs. The efficacy of the MTX therapy has been estimated using the disease activity score in 28 joints (DAS28-ESR based on EULAR criteria and relative DAS28 values (rDAS28 and all adverse drug events were recorded. Patients were genotyped for selected polymorphism by PCR-RFLP method. According to the EULAR response criteria after 6 months of MTX therapy 146 (79.3% patients were classified as responders, (17 patients (11.6% were good and 129 patients (88.4% were moderate responders and 38 patients (20.7% as non-responders. ADEs were observed in 53 (28.8% patients. The majority of ADEs were mild (36 (19.56% patients to moderate (12 (6.25% patients. Five patients (2.7% had serious ADEs. Association studies have been conducted between obtained genotypes and the efficacy and toxicity of MTX. We have observed no association between polymorphisms and efficacy or toxicity of MTX in RA patients. [Projekat Ministarstva nauke Republike Srbije, br. 175091

  14. Update History of This Database - GenLibi | LSDB Archive [Life Science Database Archive metadata

    Full Text Available switchLanguage; BLAST Search Image Search Home About Archive Update History Data ...List Contact us GenLibi Update History of This Database Date Update contents 2014/03/25 GenLibi English archi...base Description Download License Update History of This Database Site Policy | Contact Us Update History of This Database - GenLibi | LSDB Archive ... ...ve site is opened. 2007/03/01 GenLibi ( http://gene.biosciencedbc.jp/ ) is opened. About This Database Data

  15. Aspectos genéticos de la mola hidatidiforme

    C.I. Galaz-Montoya

    2015-07-01

    Full Text Available La mola hidatidiforme (MH consiste en un embarazo anormal caracterizado por la degeneración hidrópica de las vellosidades coriales e hiperplasia trofoblástica. Se clasifica en mola hidatidiforme parcial (MHP y mola hidatidiforme completa (MHC. Tiene una incidencia de 1-3:1,000 embarazos en Norteamérica y Europa, y de 2.4:1,000 en México. Entre el 10-30% se complican con enfermedad gestacional trofoblástica persistente. El 75% de los embarazos molares se clasifican como MHC, la cual de manera general tiene un complemento cromosómico diploide androgenético. Histopatológicamente se caracteriza por edema hidrópico difuso e hiperplasia del sinciciotrofoblasto, citotrofoblasto y trofoblasto intermedio; el restante 25% se clasifica como MHP, con complemento cromosómico triploide e histopatológicamente se caracteriza por la presencia de dos poblaciones de vellosidades coriales, y existe hiperplasia del sinciciotrofoblasto y citotrofoblasto. La mayoría de las MHs son esporádicas, recurriendo de manera general del 0.6-2.57% de los casos. Se considera mola recurrente (MR la ocurrencia de dos o más embarazos molares en una misma paciente, en este caso se identifican dos grupos de pacientes, aquellas con MR de origen androgenético y aquellas con MR con complemento diploide y origen biparental (MDBP, en el primer caso es raro que ocurra un tercer embarazo molar y el pronóstico reproductivo es más favorable. En aquellas pacientes con MDBP, su etiología se ha relacionado con alteraciones en la metilación materna del tejido molar por mutaciones en los genes NLRP7 y KHCD3L, el pronóstico reproductivo para estas pacientes es adverso, con probabilidad de lograr un embarazo normal a término solo del 5 al 7%.

  16. Seleção de genótipos parentais de acerola com base na divergência genética multivariada

    CARPENTIERI-PÍPOLO VALÉRIA

    2000-01-01

    Full Text Available Este trabalho teve por objetivo identificar e selecionar genótipos parentais de acerola (Malpighia emarginata L. adequadas a programas de melhoramento genético. Nove caracteres quantitativos de maior importância agronômica foram usados para determinação da distância genética e formação de grupos similares de acessos. O agrupamento pelo método de Tocher, a partir das distâncias generalizadas de Mahalanobis, possibilitou a divisão de 14 genótipos em três grupos. Com base na divergência genética e no caráter agronômico-chave (teor de vitamina C, destacaram-se como mais promissores os cruzamentos dos genótipos: AM Mole pertencente ao grupo III, com os genótipos PR AM, N° 18, PR 17, PR 16, Eclipse, AM 22 e Dominga, todos pertencentes ao grupo I.

  17. Gravidez e Diabetes Gestacional: uma combinação prejudicial à função sexual feminina? Pregnancy and Gestational Diabetes: a prejudicial combination to female sexual function?

    Meireluci Costa Ribeiro

    2011-05-01

    Full Text Available OBJETIVO: Comparar a funcao sexual de gravidas adultas saudaveis a de mulheres com Diabetes Mellitus Gestacional (DMG no terceiro trimestre da gravidez. MÉTODOS: Estudo transversal com dois grupos de gestantes em acompanhamento pre-natal. Foram criterios de inclusao: idade materna .20 anos, idade gestacional .28 semanas, relacionamento heterossexual com o mesmo parceiro ha pelo menos 6 meses e ser alfabetizada. Os criterios de exclusao foram: presenca de intercorrencias clinicas e/ou obstetricas que contraindicassem atividade sexual; hipertensao arterial controlada por medicamentos; gravidez resultante de estupro; parceiro sexualmente indisponivel ou ausente no ultimo mes; internacao hospitalar no ultimo mes; uso de cremes vaginais nos ultimos 30 dias; gestacao gemelar; uso regular de alcool e/ou drogas ilicitas; uso de medicamentos que interferissem na funcao sexual. Oitenta e sete pacientes preencheram os criterios de selecao e participaram do estudo. Para avaliacao da funcao sexual destes grupos utilizou-se o questionario Quociente Sexual . Versao Feminina (QS-F. Testes X² e t de Student foram utilizados para comparar diferencas entre os grupos, com valores pTo compare the sexual function of healthy adult pregnant women with that of gestational diabetes patients (GDM in the third trimester. METHODS: This cross-sectional study enrolled two groups of women managed antenatal care clinics. Inclusion criteria were: maternal age .20 years, gestational age at least 28 weeks, being in a heterosexual relationship with the same partner for at least 6 months, and being able to read. We excluded women with a medical recommendation for sexual abstinence due to clinical or obstetric disorders; hypertension controlled through medications; pregnancy resulting from rape; absent or sexually unavailable partner in the last month; hospital admission in the last month; use of vaginal creams in the last 30 days; multiple pregnancy, regular use of alcohol or

  18. A visão da adolescente com reincidência gestacional sobre família La visión de la adolescente con reincidencia del embarazo sobre familia The perception of adolescents with gestational recurrence on family

    Tatiane Baratieri

    2011-06-01

    Full Text Available O estudo objetivou conhecer a concepção das adolescentes com reincidência gestacional sobre família. Participaram da pesquisa 16 adolescentes grávidas dos municípios de Sarandi (oito, Mandaguari (seis e Jandaia do Sul (duas no Estado do Paraná. Trata-se de um estudo descritivo-exploratório com abordagem qualitativa. A coleta dos dados ocorreu em maio de 2009, por meio de entrevista semiestruturada gravada, realizada na própria unidade de saúde de cada cidade. Os dados foram analisados por meio da análise de conteúdo. Os resultados apontam para duas categorias: a adolescente e sua compreensão sobre família; e concepções sobre o tamanho da família: entre a prática e a pretensão. Conclui-se que as adolescentes veem família como sinônimo de laços afetivos, apontando questões financeiras como principal fator influenciador na determinação do tamanho da família. Elas almejam uma família nuclear, com poucos filhos, pressupondo-se a necessidade de planejamento e responsabilidade, porém demonstraram iniciar suas famílias sem planejar.El estudio tuvo como objetivo conocer la concepción de las adolescentes con recurrencia gestacional sobre familia. Participaron de la investigación 16 adolescentes embarazadas, de los municipios de Sarandi (ocho, Mandaguari (seis y Jandaia do Sul (dos. Se trata de un estudio descriptivo-exploratorio con abordaje cualitativo. La recogida de los datos ocurrió en mayo de 2009 y se dio por medio de entrevista seme-estructurada grabada, siendo realizada en la propia unidad de salud de cada ciudad. Los datos fueron analizados por medio del análisis de contenido. Los resultados apuntan para dos categorías: la adolescente y su comprensión sobre familia; y concepciones sobre el tamaño de la familia: entre la práctica y la pretensión. Se concluye que las adolescentes entienden la familia como sinónimo de lazos afectivos y apuntan los asuntos financieros como influyentes en la determinación del

  19. Distancias genéticas en poblaciones del NOA

    Acreche, Noemí

    1996-01-01

    Full Text Available La mayor parte de los trabajos realizados en nuestro país sobre polimorfismos hematológicos, abordan la necesaria descripción de las poblaciones. Se pone de relieve la importancia de encarar estudios, en base a la valiosa información publicada, que vinculen los grupos con técnicas que permitan realizar nuevas inferencias sobre sus relaciones. Conocidas en gran medida en cuanto a sus manifestaciones culturales, pueden aportar desde lo genético a la comprensión de los procesos microevolutivos ocurridos en una región. Para el NOA, se ha considerado la presencia de comunidades aborígenes incluídas en cuatro familias lingüísticas. Se tendrán en cuenta estos complejos como representativos de afinidades que se establecen a partir de estrechas relaciones entre las etnias, no sólo por la lengua, sino también por las características de sus sistemas productivos, religiosidad y organización. En base a las frecuencias génicas publicadas correspondientes a los siguientes alelos: I*A, I*B, I*O; M, N, S, s; Dia , Dib; P1, P2; C, c; D, d, E, e; Le, le; Fya, Fyb; Jka, Jkb; K y k se construyeron tablas de frecuencias. Se estimaron los coeficientes de distancias genéticas que fueron analizados y posteriormente incluídos en la construcción de un fenograma de los grupos de estudio, mediante agrupaciones (Sahn Cluster secuenciales, aglomerativas, jerárquicas y anidadas. De acuerdo a la información recopilada de las frecuencias de los 25 alelos estudiados en trece poblaciones de aborígenes del NOA y Paraguay, las distancias genéticas obtenidas reflejan los caracteres lingüístico-culturales.

  20. Comportamento de lactentes nascidos a termo pequenos para a idade gestacional no primeiro trimestre da vida Behavior of full term infants small for gestational age in the first three months of life

    Bernadete Balanin A. Mello

    2004-12-01

    Full Text Available O objetivo foi comparar o comportamento de lactentes nascidos a termo com peso adequado (AIG a lactantes pequenos para a idade gestacional (PIG, no primeiro trimestre de vida. A amostra foi de 20 lactentes, avaliados no 1º, 2º e 3º meses. Foram utilizadas as Escalas Bayley de Desenvolvimento Infantil - II, com ênfase na Escala de Classificação do Comportamento (ECC. Houve diferença significativa entre os grupos no 2º mês, com maior número de lactentes PIG classificados como alterados na ECC. O Fator Qualidade Motora demonstrou valores da mediana significativamente menores no grupo PIG, nos itens Motricidade Axial, Controle de Movimentos e Hipertonia Muscular. O Fator Atenção/Vigília não mostrou diferença entre os grupos. Entretanto, quando analisados os itens Exploração de Objetos e de Ambiente e Interação com o Examinador, houve diferença significativa no 2º mês, com valores da mediana menores no grupo PIG.The objective was to compare the behavior of full-term infants small-for-gestational age (SGA with full-term appropriate-for-gestational age (AGA. The sample considered 20 infants in the 1st, 2nd and in the 3rd months of life. The Bayley Scales of Infant Development-II were used, with attention to items related to Behavior Rate Scale (BRS. It was found that SGA infants showed lower average values in the BRS in the 2nd month. The Motor Quality Factor displayed significantly lower average values in SGA group, in the items Gross-motor Movement Required by Tasks, Control of Movements and Hypertonicity. The Attention/Arousal Factor in the items Exploration of Objects/Surroundings and Orientation to Examiner displayed significantly lower average values in the SGA group.

  1. Associação glicemia de jejum e fatores de risco como teste para rastreamento do diabete gestacional Fasting glycemia associated with risk factors as a screening test for gestational diabetes mellitus

    Wilson Ayach

    2005-09-01

    Full Text Available OBJETIVOS: comparar dois testes de rastreamento do diabete gestacional. MÉTODOS: estudo prospectivo no qual foram avaliadas 356 gestantes, sem diagnóstico prévio do diabete melito, submetidas, de modo independente, a dois testes de rastreamento: associação glicemia de jejum e fator de risco (GJ+FR e teste oral simplificado de tolerância à glicose (TTG50g. A comparação entre os métodos foi realizada pelos índices de sensibilidade (S, especificidade (E e valores preditivos positivo (VPP e negativo (VPN, resultados falsos, positivos (FP e negativos (FN e pela diferença dos resultados observados e esperados, avaliada pelo teste do Qui-quadrado (pOBJECTIVES: compare two gestational diabetes tests. METHODS: a prospective study in which 356 pregnant women, with no previous diabetes mellitus diagnoses independently submitted to two tests; fasting glycemia and risk factor association (FG+RF and the simplified oral test for glucose tolerance (TTG50g. Methods of comparison were performed by sensitivity (S and (ES specificity indexes, positive predictive values (PPV and negative predictive values (NPV, false results, false positive (FP and false negative (FN and by the difference of the results determined and expected, evaluated through the Chi-Square Test (p<0.05. RESULTS: FG+RF association determined diagnostic confirmation in a larger number of patients (187; 52.5% than TTG50g (49; 13.8%. This difference was significant (p<0.05. The FG+RF association indicated a sensitivity of 83.7% and negative predictive value (NPV of 95.3% as compared to TTG50g. CONCLUSIONS: the high sensitivity rates and NPV from the association of FG+RF as compared to TTG50g and its simplicity, practicality, low cost and easy replication are positive qualities for gestational diabetes testing indication.

  2. La fiction de Madame de Genlis, espace d’interrogation

    Isabelle Tremblay

    2013-09-01

    Full Text Available The novel constitutes an ideal genre in which to discuss a central question in the eighteenth century: virtue. As opposed to her contemporaries, Mme de Genlis depicts virtue as a state of mind attained through independence and self-confidence rather than through the atonement of one’s faults. How do her heroines realize their potential? Are they able to find a middle ground between their perception of their roles and identity and the expectations that weigh on them? What paths are available to them?

  3. Reactor physics challenges in GEN-IV reactor design

    Driscoll, Michael K.; Hejzlar, Pavel

    2005-01-01

    An overview of the reactor physics aspects of GENeration Four (GEN-IV) advanced reactors is presented, emphasizing how their special requirements for enhanced sustainability, safety and economics motivates consideration of features not thoroughly analyzed in the past. The resulting concept-specific requirements for better data and methods are surveyed, and some approaches and initiatives are suggested to meet the challenges faced by the international reactor physics community. No unresolvable impediments to successful development of any of the six major types of proposed reactors are identified, given appropriate and timely devotion of resources

  4. Sistema genérico de replicación

    Jiménez Ortiz, Raúl

    2014-01-01

    Este proyecto se desarrolla en una de las principales compañías eléctricas de España, y trata sobre la creación de un sistema genérico de replicación de datos. La idea surge de la necesidad de estandarizar la forma de traspasar información entre departamentos o sistemas, debido a que existen gran variedad de interfaces diferentes, y cada vez que surge la necesidad de crear una implica nuevos costes de desarrollo, mantenimiento y futuros evolutivos. Entre los diferentes departamentos de ...

  5. TrayGen: Arranging objects for exhibition and packaging

    Yang, Yongliang

    2013-10-01

    We present a framework, called TrayGen, to generate tray designs for the exhibition and packaging of a collection of objects. Based on principles from shape perception and visual merchandising, we abstract a number of design guidelines on how to organize the objects on the tray for the exhibition of their individual features and mutual relationships. Our framework realizes these guidelines by analyzing geometric shapes of the objects and optimizing their arrangement. We demonstrate that the resultant tray designs not only save space, but also highlight the characteristic of each object and the inter-relations between objects. © 2013 The Eurographics Association and John Wiley & Sons Ltd.

  6. Justicia en salud y genética

    Maria Graciela De Ortuzar

    2014-01-01

    Las expectativas puestas en el conocimiento genético exceden el ámbito de la medicina tradiciona, debido a que la intervención directa en la lotería natural demandaría el replanteamiento de conceptos centrales de justicia en salud: necesidades médicas, enfermedad, normalidad, e igualdad de oportunidades en el acceso a la salud. El punto en debate es sí el replanteo de dichos conceptos conlleva un cambio radical en las teorías de justicia (libertariana y/o liberal), mostrando su obsolescencia,...

  7. Reactor physics challenges in GEN-IV reactor design

    Driscoll, Michael K.; Hejzlar, Pavel [Massachusetts Institute of Technology, MA (United States)

    2005-02-15

    An overview of the reactor physics aspects of GENeration Four (GEN-IV) advanced reactors is presented, emphasizing how their special requirements for enhanced sustainability, safety and economics motivates consideration of features not thoroughly analyzed in the past. The resulting concept-specific requirements for better data and methods are surveyed, and some approaches and initiatives are suggested to meet the challenges faced by the international reactor physics community. No unresolvable impediments to successful development of any of the six major types of proposed reactors are identified, given appropriate and timely devotion of resources.

  8. Enfermedades genéticas del ADN mitocondrial humano

    Solano Abelardo

    2001-01-01

    Full Text Available Las enfermedades mitocondriales son un grupo de trastornos que están producidos por un fallo en el sistema de fosforilación oxidativa (sistema Oxphos, la ruta final del metabolismo energético mitocondrial, con la consiguiente deficiencia en la biosíntesis del trifosfato de adenosina (ATP, por sus siglas en inglés. Parte de los polipéptidos que componen este sistema están codificados en el ácido desoxirribonucleico (DNA mitocondrial y, en los últimos años, se han descrito mutaciones que se han asociado con síndromes clínicos bien definidos. Las características genéticas del DNA mitocondrial, herencia materna, poliplasmia y segregación mitótica, confieren a estas enfermedades propiedades muy particulares. Las manifestaciones clínicas de estas enfermedades son muy heterogéneas y afectan a distintos órganos y tejidos por lo que su correcto diagnóstico implica la obtención de datos clínicos, morfológicos, bioquímicos y genéticos. El texto completo en inglés de este artículo está disponible en: http://www.insp.mx/salud/index.html

  9. PowerGen plc report and accounts 1995

    NONE

    1995-12-31

    Detailed financial results are presented for the United Kingdom power generation company PowerGen for the year ended 2 April 1995. A review is given of operating and financial performance. Significant reductions in operating costs and improvements in productivity have been achieved. Diversity of fuels and plant portfolio has been enhanced by building 3000 MW of gas fired CCGT plant. Investment in coal import facilities has increased access to international coal markets. Environmental performance has improved with further reductions in SO{sub 2}, NO{sub x} and CO{sub 2} emissions. Overseas projects include construction of 990 MW CCGT power station in Portugal and a contract to build the 1200 MW Paiton 2 coal-fired power station in Indonesia. Investment in lignite mining and power generation assets of MIBRAG in Germany is contributing to profits. PowerGen`s five year contract for coal supply was assigned to RJB Mining (UK) Ltd. during the year. Stocks of coal fell during the year and further reductions are expected during 1995/96.

  10. Avaliação da adequação do rastreamento e diagnóstico de Diabetes Mellitus Gestacional em puérperas atendidas em unidade hospitalar de dois municípios da região do Vale do São Francisco - Nordeste do Brasil

    Audimar de Sousa Alves

    2014-03-01

    Full Text Available Objetivos: avaliar a adequação do rastreamento e do diagnóstico de diabetes mellitus gestacional em puérperas atendidas em unidade hospitalar de dois municípios da região do Vale do São Francisco. Métodos: estudo descritivo, com 1340 puérperas que pariram no Hospital Dom Malan-IMIP-PE e Maternidade Municipal de Juazeiro-BA, de abril de 2011 a janeiro de 2012. Excluídas aquelas com diagnóstico prévio de diabetes mellitus, sem pré-natal sem exames acessíveis. Foram construídas tabelas de distribuição de frequência e medidas de tendência central e dispersão. Resultados: a média de idade gestacional da solicitação da glicemia de jejum foi 14 semanas, adequada em 46%. A idade gestacional média da realização da glicemia foi 16 semanas, realizada até 30 dias após solicitação em 37,9%; recebimento do resultado ocorreu em média na 20ª semana, adequada em 33,4%. A segunda glicemia de jejum foi solicitada e interpretada adequadamente em 28,1% dos casos; 20,8% tiveram resultados glicêmicos da primeira e segunda glicemia de jejum igual ou superior a 85 mg/dL e 11,9% não realizaram ou receberam a glicemia de jejum. Inadequação no rastreamento/diagnóstico detectada em 76,9% (n=1022, e 5,0% (n=67 de quem realizou Teste Oral de Tolerância a Glicose. Alguma inadequação foi observada em 91,9% durante o rastreio. Conclusões: o rastreio/diagnóstico do diabetes gestacional entre as puérperas estudadas foi realizado inadequadamente.

  11. Efecto de la intervención con metformina durante el embarazo en la diabetes mellitus gestacional en mujeres con síndrome de ovario poliquístico: una revisión sistemática y metanálisis

    Viguera Torrealba,Sebastián; Carvajal,Jorge A

    2014-01-01

    La metformina es un sensibilizador a insulina y es efectiva en el tratamiento de la diabetes mellitus tipo 2. Sin embargo, no se ha evaluado las consecuencias funcionales de la administración de metformina durante el embarazo en la diabetes mellitus gestacional (DMG) en mujeres con síndrome de ovario poliquístico (SOP). Para eso efectuamos una revisión sistemática y un metanálisis para determinar el efecto de la metformina sobre la DMG en el SOP. El meta-análisis se realizó en los estudios pu...

  12. Divergence and genetic variability among superior rubber tree genotypes Divergência e variabilidade genética de genótipos superiores de seringueira

    Lígia Regina Lima Gouvêa

    2010-02-01

    Full Text Available The objective of this work was to estimate the genetic variability and divergence among 22 superior rubber tree (Hevea sp. genotypes of the IAC 400 series. Univariate and multivariate analyses were performed using eight quantitative traits (descriptors, including yield. In the univariate analyses, the estimated parameters were: genetic and environmental variances; genetic and environmental coefficients of variation; and the variation index. The Mahalanobis generalized distance, the Tocher agglomerative method and canonical variables were used for the multivariate analyses. In the univariate analyses, variability was verified among the genotypes for all the variables evaluated. The Tocher method grouped the genotypes into 11 clusters of dissimilarity. The first four canonical variables explained 87.93% of the cumulative variation. The highest genetic variability was found in rubber yield-related traits, which contributed the most to the genetic divergence. The most divergent pairs of genotypes are suggested for crossbreeding. The genotypes evaluated are suitable for breeding and may be used to continue the IAC rubber tree breeding program.O objetivo deste trabalho foi estimar a divergência e a variabilidade genética entre 22 genótipos superiores de seringueira (Hevea sp. da série IAC 400. Análises univariadas e multivariadas foram realizadas com oito caracteres quantitativos (descritores, incluindo produtividade. Na análise univariada, os parâmetros estimados foram: variâncias genética e ambiental, coeficientes de variação genética e ambiental, e índice de variação. A distância generalizada de Mahalanobis, o método aglomerativo de Tocher e variáveis canônicas foram utilizados nas análises multivariadas. Nas análises univariadas, verificou-se variabilidade entre os genótipos para todas as variáveis avaliadas. O método de Tocher agrupou os genótipos em 11 grupos de dissimilaridade. As quatro primeiras variáveis can

  13. Gridded precipitation dataset for the Rhine basin made with the genRE interpolation method

    Osnabrugge, van B.; Uijlenhoet, R.

    2017-01-01

    A high resolution (1.2x1.2km) gridded precipitation dataset with hourly time step that covers the whole Rhine basin for the period 1997-2015. Made from gauge data with the genRE interpolation scheme. See "genRE: A method to extend gridded precipitation climatology datasets in near real-time for

  14. A 48-plex autosomal SNP GenPlex™ assay for human individualization and relationship testing

    Tomas Mas, Carmen; Børsting, Claus; Morling, Niels

    2012-01-01

    SNPs are being increasingly used by forensic laboratories. Different platforms have been developed for SNP typing. We describe the GenPlex™ HID system protocol, a new SNP-typing platform developed by Applied Biosystems where 48 of the 52 SNPforID SNPs and amelogenin are included. The GenPlex™ HID...

  15. ANALISIS SEKUEN GEN GLUTATION PEROKSIDASE (GPX1 SEBAGAI DETEKSI STRES OKSIDATIF AKIBAT INFEKSI MYCOBACTERIUM TUBERCULOSIS

    Ari Yuniastuti

    2013-02-01

    Full Text Available Glutation merupakan antioksidan yang berperan dalam fungsi imun, dan diekspresikan secara genetik oleh urutan gen yang membentuk protein enzim Glutation Peroxidase (GPx1. Bila ekspresi gen berubah maka terjadi perubahan fungsi glutation dan kerentanan terhadap stress oksidatif. Metode yang digunakan adalah Kasus-kontrol. Sampel yang digunakan adalah sampel darah. Kelompok kasus adalah sampel darah pasien tuberkulosis paru sedangkan kelompok kontrol adalah sampel darah orang sehat. Pemeriksaan gen Glutation peroxidase (GPx1 menggunakan metode Polymerase Chain Reaction (PCR untuk melihat pita DNA pada pasien tuberkulosis par serta elektroforesis produk PCR-RFLP gen GPx1 kelompok sampel tuberkulosis. Hasil penelitian menunjukkan bahwa tidak terdapat hubungan yang bermakna antara polimorfisme gen GPx1 (p=0,365 pasein tuberkulois dengan individu sehat, sehingga tidak dapat digunakan sebagai alat deteksi kerentanan terhadap stress oksidatif pada pasien tuberkulosis. Perlu penelitian lanjutan yang menggunakan sampel lebih besar dan populasi etnik yang berbeda.

  16. Sistema inmune y genética: un abordaje diferente a la diversidad de anticuerpos.

    Matta Camacho, Nubia Estela

    2011-01-01

    RESUMEN Es común encontrar en los libros de inmunología o de genética un capítulo con el título de “sistema inmune y genética”, sin embargo su asociación se centra en cómo la generación de anticuerpos rompió el paradigma “un gen, una proteína”, pues en el caso de la producción de anticuerpos, un gen produce millones de proteínas. El sistema inmune tiene muchos vínculos con la genética y la herencia; esta asociación se da porque cualquier sustancia o compuesto que produzca un organi...

  17. Eustochomorpha Girault, Neotriadomerus gen. n., and Proarescon gen. n. (Hymenoptera, Mymaridae, early extant lineages in evolution of the family

    John T. Huber

    2017-06-01

    Full Text Available Eustochomorpha Girault, with one described species, E. haeckeli Girault, from Australia is redescribed. Neotriadomerus Huber, gen. n., is described, together with seven new species, all from Australia: N. burwelli Huber, sp. n., N. crassus Huber, sp. n., N. darlingi Huber, sp. n., N. gloriosus Huber, sp. n., N. longiovipositor Huber, sp. n., N. longissimus Huber, sp. n. (one of the largest species of Mymaridae, and N. powerae Huber, sp. n. Proarescon Huber, gen. n., is described for P. primitivum (Huber, comb. n., transferred from Borneomymar Huber, and P. similis Huber, sp. n., from Thailand. The previously unknown male of Borneomymar madagascar Huber is described and the genus is redescribed from critical point dried and slide mounted specimens. Triadomerini, stat. n., is proposed to include six genera: Borneomymar, Eustochomorpha and Neotriadomerus, and the Cretaceous Carpenteriana Yoshimoto, Macalpinia Yoshimoto and Triadomerus Yoshimoto. Aresconini is proposed to include five (possibly six genera: Arescon Enock, Kikiki Huber and Beardsley, Proarescon Huber and Tinkerbella Huber and Noyes, and the Cretaceous Myanmymar Huber and, tentatively, also Enneagmus Yoshimoto. The two tribes are proposed as being the earliest lineages in Mymaridae, with Neotriadomerus and Triadomerus being sister genera to the remaining extant and extinct genera, respectively.

  18. Estimating gestational age and its relation to the anthropometric status of newborns: a study comparing the Capurro and ultrasound methods with last menstrual period Estimativa da idade gestacional e sua relação com o estado antropométrico em recém-nascidos: uma comparação dos métodos Capurro e ultrassonográfico com a data da última menstruação

    Maria de Fátima Pussick Nunes

    2011-03-01

    Full Text Available OBJECTIVE: to assess the accuracy of the Capurro somatic and ultrasound methods, taking date of last menstruation as a reference point, for evaluating gestational age and anthropometric classification of term newborns. METHODS: a prevalence study was carried out involving 309 pregnant women and their term newborns, 92 of whom were small for gestational age and 217 appropriate sized for gestational age, at two public maternity hospitals in the Brazilian city of Salvador. The evaluation of the differences between the median gestational age according to the two methods was carried out using the non-parametric "Wilcoxon Signed-Rank Test." The accuracy of the methods for evaluating gestational age for the small for gestational age newborns was estimated by calculating the sensitivity, specificity, positive predictive value, negative predictive value and ROC (Receiver Operating Characteristic curve. RESULTS: compared to ultrasound, the Capurro method overestimated the gestational age in newbornsof less than 39 weeks and underestimated it in older newborns. Ultrasound underestimated gestational agein newborns with more than 37 weeks. CONCLUSION: ultrasound was found to have greater sensitivity for prediction of small for age newborns (96.6%, while the Capurro method presented greater specificity (75.5%. The highest accuracy was obtained using ultrasound in the 41st gestational week (ROC=77.0%.OBJETIVOS: avaliar a acurácia dos métodos físico de Capurro e da ultrassonografia (USG, tomandocomo referência o método da data da última menstruação (DUM, na avaliação da idade gestacional e classificação antropométrica de recém-nascidos (RN a termo. MÉTODOS: estudo de prevalência, envolvendo 309 puérperas e seus recém-nascidos a termo, sendo 92 pequenos para idade gestacional (PIG e 217 adequados para idade gestacional (AIG, de duas maternidades públicas de Salvador. A avaliação das diferenças entre as medianas da idade gestacional segundo

  19. International Conference on NextGen Electronic Technologies

    Thalmann, Nadia; Bhaaskaran, V

    2017-01-01

    This book is a collection of keynote lectures from international experts presented at International Conference on NextGen Electronic Technologies (ICNETS2-2016). ICNETS2 encompasses six symposia covering all aspects of electronics and communications domains, including relevant nano/micro materials and devices . This volume comprises of recent research in areas like computational signal processing analysis, intelligent embedded systems, nanoelectronic materials and devices, optical and microwave technologies, VLSI design: circuits systems and application, and wireless communication networks, and the internet of things. The contents of this book will be useful to researchers, professionals, and students working in the core areas of electronics and their applications, especially to signal processing, embedded systems, and networking.

  20. Els orígens de la tuberculosi

    Bueno i Torrens, David, 1965-

    2014-01-01

    La tuberculosi és una de les primeres malalties infeccioses de la història de la humanitat. Es dedueix del registre fòssil, per les empremtes que deixa en els ossos d"algunes de les persones que l"han patit. Tradicionalment s"ha assumit que la tuberculosi ve del bestiar boví, que la va transmetre per primer cop a les persones durant el neolític. Però l"anàlisi genètica dels bacteris causants d"aquesta malaltia en diversos indrets del món i de bacteris fòssils trobats en mòmies precolombines h...

  1. Commissioning and Performance Analysis of WhisperGen Stirling Engine

    Pradip, Prashant Kaliram

    Stirling engine based cogeneration systems have potential to reduce energy consumption and greenhouse gas emission, due to their high cogeneration efficiency and emission control due to steady external combustion. To date, most studies on this unit have focused on performance based on both experimentation and computer models, and lack experimental data for diversified operating ranges. This thesis starts with the commissioning of a WhisperGen Stirling engine with components and instrumentation to evaluate power and thermal performance of the system. Next, a parametric study on primary engine variables, including air, diesel, and coolant flowrate and temperature were carried out to further understand their effect on engine power and efficiency. Then, this trend was validated with the thermodynamic model developed for the energy analysis of a Stirling cycle. Finally, the energy balance of the Stirling engine was compared without and with heat recovery from the engine block and the combustion chamber exhaust.

  2. Festival du rire de Genève

    Staff Association

    2015-01-01

    Connaissez-vous le Festival du rire de Genève ? La deuxième édition aura lieu du 25 au 28 mars 2015 au Casino-Théâtre à Carouge. Côté programmation, Marc Donnet-Monay ouvre les festivités avant trois autres soirées de folie et d’humour que nous vous laissons le soin de découvrir dans le programme : http://www.rire-geneve.ch/#programme. Réduction de 30% sur l’achat de places pour les membres du personnel du CERN. Pour cela, il suffit de se rendre sur la billetterie en ligne de notre site : www.rire-geneve.ch et d’utiliser le code promotionnel. Contacter le secrétariat de l’Association du personnel (Staff.Association@cern.ch) pour connaitre ce code promotionnel.

  3. How Gen Y and Boomers will reshape your agenda.

    Hewlett, Sylvia Ann; Sherbin, Laura; Sumberg, Karen

    2009-01-01

    When it comes to workplace preferences, Generation Y workers closely resemble Baby Boomers. Because these two huge cohorts now coexist in the workforce, their shared values will hold sway in the companies that hire them. The authors, from the Center for Work-Life Policy, conducted two large-scale surveys that reveal those values. Gen Ys and Boomers are eager to contribute to positive social change, and they seek out workplaces where they can do that. They expect flexibility and the option to work remotely, but they also want to connect deeply with colleagues. They believe in employer loyalty but desire to embark on learning odysseys. Innovative firms are responding by crafting reward packages that benefit both generations of workers--and their employers.

  4. Developing new nuclear curricula for GEN IV needs

    Ghitescu, P.; Pavel, G.L.

    2014-01-01

    States who wish to start and develop a nuclear program must take into consideration a strong proven strategy for developing a sustainable program. A complete nuclear research program must include: a good national strategy and support on the topic; strong research laboratories supported by good personnel; education component to provide sustainable and qualified workforce; national/international interest from stakeholders and governments and a well informed society. New demonstrators are foreseen for the next period to be built in Europe and skilled supporting personnel is strongly needed. Current situation in nuclear higher education with perspective will be analysed. EURATOM strongly supports development of multidisciplinary co-operational projects in order to built such novel initiatives. An example of such program supported by European Commission, ARCADIA, will be given. The project is based on the cooperation of a large number of participants all over Europe and the main purpose is to develop a road-map for Gen IV reactor. (authors)

  5. The sale of National Power and PowerGen

    1992-06-01

    In March 1991, the Secretary of State for Energy sold approximately 60 per cent of the shares in National Power and PowerGen who generate most of the electricity produced in England and Wales. The Government's overriding objective was to complete the privatisation of the electricity industry during the lifetime of the Parliament. Within that overriding objective, the Department sought: to maximise net proceeds; to deepen share ownership among individuals; to achieve the overall recognition that the sale of the two companies had been a success; and to achieve a modest premium on the issue price following the state of share dealings. This report sets out the results of a National Audit Office examination of how far the Department achieved their objectives for the sale, and how they controlled its costs. (author)

  6. Genética de las epilepsias Genetics of epilepsy

    Gustavo A. Charria-Ortiz

    2007-01-01

    Full Text Available En años recientes se ha podido definir con gran exactitud la existencia de alteraciones genéticas específicas en una gran variedad de síndromes epilépticos tradicionales. Es decir, por vez primera se ha podido relacionar de manera contundente y predecible la presencia de alteraciones genómicas y/o proteómicas con síndromes epilépticos antes considerados como "idiopáticos". La gran mayoría de dichos defectos han sido encontrados en genes codificadores para canales iónicos y/o receptores de membrana, lo cual en cierto modo confirma la ya antes postulada relevancia que estas estructuras tienen en la actividad electroquímica espontánea neuronal cuyo desajuste conllevaría a ciertas formas de epilepsia. Esta revisión se centra en los aspectos genéticos y clínicos de dichas condiciones y alteraciones. También se revisarán brevemente los estudios más relevantes de la literatura médica según los cuales -aun a pesar de no haberse definido con la misma exactitud el tipo de anomalías etiológicas- puede tranquilamente inferirse el gran componente genético que parece subyacer a la etiología de las epilepsias. Por ultimo se enfatizará en que a pesar de dichos descubrimientos, su aplicación en la práctica clínica diaria aun es muy limitada, no solo por la relativa rareza de algunos de tales síndromes neurológicos sino también por la poca relevancia que hasta ahora ellos han tenido en el manejo médico rutinario de la mayoría de los pacientes. Las posibilidades inmediatas de tales avances -incluida la farmacogenómica-, así como los posibles conflictos éticos en que se podría incurrir serán también brevemente discutidos.In the last few years, the presence of specific genetic abnormalities leading to some of the classical epileptic syndromes has been clearly elucidated. This means that for the first time, it has become possible to create a strong relationship between the presence of specific genomic and/or proteomic

  7. Estudo vídeo-polissonográfico em recém-nascidos de termo pequenos para a idade gestacional Video-polygraphic-EEG study in the full-term newborn with low birthweight for their gestational age

    NIURA A.M R. PADULA

    1999-09-01

    Full Text Available Analisamos o exame video-polissonográfico de 26 recém-nascidos de termo (RNT com 24 horas de vida. Os RN tinham exame neurológico e ultrassonográfico cerebral normais e apresentaram período perinatal isento de complicações. Foram subdivididos em dois grupos, um controle constituído de 11 RNT com peso adequado para a idade gestacional; e um grupo de 15 RN com peso abaixo do esperado para o termo (RNT-PIG. Do segundo grupo, 13 RN apresentaram algum tipo de alteração ao exame video-polissonográfico. As alterações mais frequentes foram na arquitetura do sono, 11 casos, e no comportamento, em que oito RN apresentaram número excessivo de sobressaltos ("startle" em relação ao grupo controle e dois RN uma atividade motora reduzida. Os resultados deste estudo demonstram a utilidade da video-polissonografia quando aplicada a RNT-PIG. O exame mostrou-se sensível em detectar diferenças no comportamento, arquitetura do sono e padrão eletrencefalográfico dos RNT-PIG quando comparados ao grupo controle.Video-polygraphic-EEG studies were performed in the first 24 life-hours of 26 healthy full-term newborns without perinatal injuries. The neurological examination and cranial ultrasonography were normal. The newborns were divided into two groups: one, with full-term appropriate - birth weight 11 newborns (control group and the other with full-term low-birth weight 15 newborns. Thirteen newborns of the second group had video-polygraphic-EEG study abnormalities. The most frequent abnormalities were found in 11 cases, as far as sleep architecture is concerned. Also, when compared with the control group, 8 cases of an excessive amount of startles and 2 cases of low behavior activities were found. The results demonstrate the usefulness of video-polygraphic-EEG study in the full-term newborns with intra-uterine growth retard. This examination was sensitive to detect behavior, sleep architecture and EEG standard differences in the low birth

  8. Concentrações séricas de progesterona, 17 b-estradiol e cortisol durante o final do próestro, estro e diestro gestacional em cadelas

    Benetti Ana Helena

    2004-01-01

    Full Text Available Neste estudo, foram utilizadas 7 cadelas sem raça definida, adultas e hígidas, copuladas com macho hígido, após exame andrológico, para acompanhamento das variações hormonais de progesterona, 17b-estradiol e cortisol a partir do final do próestro, durante o estro e diestro gestacional em fêmeas da espécie canina. As avaliações séricas do cortisol foram iniciadas no período de estro. A citologia vaginal esfoliativa foi utilizada como parâmetro auxiliar para a determinação das fases do ciclo estral, mais especificamente para análise do melhor momento para cópula, através da presença das células superficiais queratinizadas visibilizadas nas lâminas. Os resultados obtidos mostraram concentrações médias de progesterona elevando-se discretamente no final do próestro (de 1,56 para 2,85ng ml-1, concomitante com o início do declínio dos valores de estradiol no mesmo período (de 20,93 para 18,81pg ml-1. Durante a gestação pôde-se observar concentrações elevadas de progesterona (36,90ng ml-1, havendo declínio apenas no terço final (4,10ng ml-1, quando também pôde ser notada, por um momento, ligeira elevação das concentrações médias de 17b-estradiol (2,46pg ml-1. O aumento do cortisol sérico foi notado na última semana da gestação havendo, antes disso, alterações significativas (P<0,05 nas concentrações séricas baseadas nos padrões descritos em literatura. No pós-parto imediato a redução do cortisol sérico (6,52ng ml-1 foi considerada relevante de acordo com as concentrações detectadas na última semana da gestação (22,27ng ml-1. A progesterona esteve mantida em níveis basais no pós-parto imediato (< 1ng ml-1.

  9. JRC-IE's research of safety of Gen IV systems

    Tsige-Tamirat, H.; Ranguelova, V.; Feutterer, M.; Ammirabile, L.; Carlsson, J.; D'Agata, E.; Laurie, M.; Magallon, D.

    2010-01-01

    The Institute for Energy (IE), one of the seven scientific Institutes of the Joint Research Centre (JRC) of the European Commission, has the mission to provide scientific and technical support for the conception, development, implementation and monitoring of community policies related to energy. To accomplish its mission, IE performs research in the areas of renewable energies, safety and sustainability of nuclear energy for current and future reactor systems, energy technic/economic assessment, and security of energy supply. The Generation IV International Forum (GIF) is a cooperative international endeavour organized to carry out R and D needed to establish the feasibility and performance capabilities of the next generation nuclear energy systems and support the progress towards their realization. The EU, represented by EURATOM and with the JRC as implementing agent, is working together with other GIF partners to perform pre-competitive R and D on key technologies to be implemented in future nuclear systems. IE is engaged in experimental research, simulation and modeling, scientific, feasibility and engineering studies on innovative nuclear reactor systems needed to support the EURATOM contribution to GEN IV initiative, in particular in assessment of innovative fuels and materials, development of new reactor core concepts and safety solutions and knowledge management and preservation. IE's research activities on Generation IV reactor systems are focused on the assessment of the potential of such systems to meet long term EU energy needs with respect to economical advantages, enhanced safety, sustainability, and proliferation resistance. IE participates in international collaborations and has bilateral research cooperation both with European and non-European partners. This paper gives an overview of IE's current research activities on the Gen IV reactor systems related to safety. (authors)

  10. Big Bang à Genève - French version only

    2005-01-01

    C'est la dernière conférence du cycle organisé par la section de physique de l'Université de Genève à l'occasion de l'Année internationale de la physique. Pour le bouquet final, la section de physique a choisi le grand boum du Big Bang. Intitulée « Big Bang à Genève », la conférence donnée par Laurent Chevalier de l'institut français CEA Saclay évoquera les expériences qui se préparent au CERN avec le LHC. Leur but est de reproduire et d'analyser les conditions qui prévalaient à l'origine de l'Univers, juste après le Big Bang. L'exposé décrira de façon simple les techniques utilisées pour cette exploration, qui démarrera en 2007. Laurent Chevalier se demandera avec le public quels phénomènes nouveaux les physiciens espèrent découvrir dans ce monde inexploré. Comme les précédentes, la conférence débutera par une démonstration de détection de rayons cosmiques dans l'auditoire et l'utilisation de ces signaux pour créer une « musique cosmique », en collaboration avec le Pr...

  11. Perfil de risco gestacional e metabólico no serviço de pré-natal de maternidade pública do Nordeste do Brasil Profile of gestational and metabolic risk in the prenatal care service of a public maternity in the Brazilian Northeast

    Eliane Menezes Flores Santos

    2012-03-01

    Full Text Available OBJETIVO: Descrever a prevalência dos fatores de risco gestacionais e sua associação com desfechos materno-fetais desfavoráveis. MÉTODOS: Estudo longitudinal, descritivo e analítico, levando em conta 204 gestantes atendidas no ambulatório de pré-natal de maternidade pública entre maio de 2007 e dezembro de 2008. Os fatores de risco incluíram aspectos sociodemográficos, antecedentes pessoais, obstétricos e familiares, índice de massa corpórea (IMC pré-gestacional elevado, excesso de ganho de peso gestacional e anemia. Desfechos adversos incluíram pré-eclâmpsia (PE, diabetes mellitus gestacional (DMG, parto cesariano, prematuridade e recém-nascido (RN com peso alterado. RESULTADOS: A média de idade foi 26±6,4 anos, predominando as pardas (59,8%, com segundo grau completo e superior incompleto de escolaridade (51,8%, união estável (67,2% e ocupação remunerada (51,0%. A maioria foi admitida no segundo trimestre (63,7% e 16,7% no primeiro; 42,6% eram primíparas. Hipertensão arterial crônica (2,9%, pré-eclâmpsia (9,8%, excessivo ganho de peso na gestação (15,2% e diabetes mellitus gestacional (1,0% foram relatados em gestações anteriores. Na atual gestação foi encontrado IMC pré-gestacional elevado em 34,6% e ganho excessivo de peso em 45,5%, bem como anemia em 25,3% e dislipidemia em 47,3%. O rastreamento para diabetes mellitus gestacional indicado em 17,5% foi confirmado em 3,4% das mulheres. A proteína urinária elevada em amostra única ocorreu em 16,4%. Resultados materno-fetais adversos incluíram PE (4,5%, DMG (3,4%, prematuridade (4,4% e partos cesarianos (40,1%. RNs grandes para a idade gestacional (GIG somaram 9,8% e pequenos para a idade gestacional (PIG, 13,8%. A análise de regressão de Poisson multivariada identificou IMC pré-gestacional elevado (>25 kg/m² como preditor independente para PE (risco relativo (RR de 17,2 e intervalo de confiança (IC 95% 2,1-137,5 e parto cesariano (RR=1,8; IC95% 1

  12. Description of Sharon gen. nov. for the Chilean species Asaphes amoenus Philippi, 1861 (Coleoptera: Elateridae

    Elizabeth T. Arias-Bohart

    2015-10-01

    Full Text Available Sharon gen. nov. is here described to include Asaphes? amoenus Philippi, 1861 comb. nov. from Chile. A redescription of the species is based on the female holotype and material from different geographic locations. Candèze (1891 placed Asaphes amoenus and Parasaphes elegans in the suprageneric group Asaphites. We discuss differences between Sharon gen. nov. and Hemicrepidius Germar, 1839, where Asaphes amoenus was later placed by Blackwelder (1944. Based on morphological characters, Sharon gen. nov. appears to be related to Parasaphes Candèze, 1881, Wynarka Calder, 1986, and Tasmanelater Calder, 1996, all from Australia, suggesting Gondwanan relationships.

  13. Estudio de la variabilidad genética en camélidos bolivianos

    Barreta Pinto, Julia

    2013-01-01

    El estudio de los camélidos sudamericanos es de gran interés en los países andinoscomo Perú, Bolivia, Chile, Argentina, debido a su importante valor económico y suimportancia en el mantenimiento y desarrollo de las poblaciones rurales en dichos países. Dada la falta de estudios genéticos centrados en las poblaciones de camélidos quehabitan en Bolivia, y la necesidad de realizar una valoración de la diversidad genética deestas poblaciones, la presente Tesis doctoral ha abordado el estudio gené...

  14. Consideraciones genéticas sobre las dislipidemias y la aterosclerosis

    Julio César Fernández Travieso

    2008-01-01

    La interacción entre factores genéticos y ambientales explican muchos aspectos de la aterosclerosis y las variaciones genéticas constituyen marcadores de riesgo de la enfermedad coronaria (EC), la cual ocupa el primer lugar entre las causas de morbilidad y mortalidad a nivel mundial. La predisposición familiar a padecer EC, junto al avance vertiginoso en técnicas de análisis de ADN y la disponibilidad de secuencias del genoma humano, han orientado la investigación de alteraciones genéticas re...

  15. Conceptos básicos de programación genética

    José Jesús Martínez Páez

    2001-04-01

    Full Text Available La Programación Genética, PG, es un retoño de los Algoritmos Genéticos, en la cual los cromosomas que sufren la adaptación son en sí mismos programas de computador. Se usan operadores genéticos  especializados que generalizan la recombinación sexual y la mutación, para los programas de computador estructurados en árbol que están bajo adaptación.

  16. Manipulación genética de seres humanos

    Manuel Santos Alcántara

    2006-01-01

    El gran avance que ha tenido la Genética en los últimos años y, particularmente, aquello relacionado con el desciframiento del genoma humano, ha traído a la discusión pública la posibilidad concreta de manipular genéticamente a los seres humanos. El mejoramiento o perfeccionamiento genético de los seres humanos, denominado eugenesia, actualmente se ha convertido técnicamente en una realidad, motivando una profunda reflexión de tipo ético. La pregunta básica es la siguiente: aquello que es téc...

  17. Polimorfismos del gen ob en bovinos de raza holstein en la Comarca Lagunera, México

    Sarai S. Mendoza-Retana; Miguel A. Gallegos-Robles; Uriel González-Salas; José L. García-Hernández; Manuel Fortis-Hernández; Cirilo Vázquez-Vázquez; Héctor I. Trejo-Escareño

    2017-01-01

    La Comarca Lagunera es la cuenca lechera más importante de México. En la actualidad se están utilizando diversas técnicas que permiten evaluar genéticamente el animal a una edad temprana, permitiendo seleccionar futuros reproductores con características deseables. Entre los genes relacionados con la producción de leche, se encuentran el gen Ob también llamado gen Leptina el cual actúa sobre el sistema nervioso central y tejidos periféricos jugando un papel muy importante ...

  18. Discusión: Explicaciones genéticas y psicológicas de la esquizofrenia.Genética de la esperanza

    Silvio Bolaños-Salvatierra

    2003-01-01

    Full Text Available En este documento se rebaten críticas hechas por Raventós y Jensen al artículo “Genética y comportamiento”. Cuatro temas fueron seleccionados: 1 se determina que los antipsicóticos aparecieron veinte años después de la concepción hereditaria de la esquizofrenia; 2 se considera que la discusión es altamente pertinente, para nada bizantina o irrelevante, debido que persisten prácticas epistémicas riesgosas en los investigadores genético-conductuales; 3 aunque ninguna conducta humana está exenta de influencia constitucional, el enfoque biologicista se ha propasado al pretender explicar genéticamente casi todo, desconfirmando solapadamente la importancia de la historia personal; y, 4 se plantea que la investigación biológica sobrevalora el peso de las anomalías genéticas frente a la historia social, por lo que solo aparenta cautela. Se propone investigar genéticamente la esperanza con el objetivo de saturar a la humanidad con ese tipo de explicaciones, para alcanzar más rápido una convivencia basada en la tolerancia y el respeto.

  19. PAI-1 4G/5G and MTHFR C677T polymorphisms increased the accuracy of two prediction scores for the risk of acute lower extremity deep vein thrombosis.

    Pop, Tudor Radu; Vesa, Ştefan Cristian; Trifa, Adrian Pavel; Crişan, Sorin; Buzoianu, Anca Dana

    2014-01-01

    This study investigates the accuracy of two scores in predicting the risk of acute lower extremity deep vein thrombosis. The study included 170 patients [85 (50%) women and 85 (50%) men] who were diagnosed with acute lower extremity deep vein thrombosis (DVT) with duplex ultrasonography. Median age was 62 (52.75; 72) years. The control group consisted of 166 subjects [96 (57.8%) women and 70 (42.2%) men], without DVT, matched for age (± one year) to those in the group with DVT. The patients and controls were selected from those admitted to the internal medicine, cardiology and geriatrics wards within the Municipal Hospital of Cluj-Napoca, Romania, between October 2009 and June 2011. Clinical, demographic and lab data were recorded for each patient. For each patient we calculated the prior risk of DVT using two prediction scores: Caprini and Padua. According to the Padua score only 93 (54.7%) patients with DVT had been at high risk of developing DVT, while 48 (28.9%) of controls were at high risk of developing DVT. When Padua score included PAI-1 4G/5G and MTHFR C677T polymorphisms, the sensitivity increased at 71.7%. Using the Caprini score, we determined that 147 (86.4%) patients with DVT had been at high risk of developing DVT, while 103 (62%) controls were at high risk of developing DVT. A Caprini score higher than 5 was the strongest predictor of acute lower extremity DVT risk. The Caprini prediction score was more sensitive than the Padua score in assessing the high risk of DVT in medical patients. PAI-1 4G/5G and MTHFR C677T polymorphisms increased the sensitivity of Padua score.

  20. Characterization of Romboutsia ilealis gen. nov., sp. nov., isolated from the gastro-intestinal tract of a rat, and proposal for the reclassification of five closely related members of the genus Clostridium into the genera Romboutsia gen. nov., Intestinibacter gen. nov., Terrisporobacter gen. nov. and Asaccharospora gen. nov.

    Gerritsen, Jacoline; Fuentes, Susana; Grievink, Wieke; van Niftrik, Laura; Tindall, Brian J; Timmerman, Harro M; Rijkers, Ger T; Smidt, Hauke

    2014-05-01

    A Gram-positive staining, rod-shaped, non-motile, spore-forming obligately anaerobic bacterium, designated CRIBT, was isolated from the gastro-intestinal tract of a rat and characterized. The major cellular fatty acids of strain CRIBT were saturated and unsaturated straight-chain C12-C19 fatty acids, with C16:0 being the predominant fatty acid. The polar lipid profile comprised six glycolipids, four phospholipids and one lipid that did not stain with any of the specific spray reagents used. The only quinone was MK-6. The predominating cell-wall sugars were glucose and galactose. The peptidoglycan type of strain CRIBT was A1σ lanthionine-direct. The genomic DNA G+C content of strain CRIBT was 28.1 mol%. On the basis of 16S rRNA gene sequence similarity, strain CRIBT was most closely related to a number of species of the genus Clostridium, including Clostridium lituseburense (97.2%), Clostridium glycolicum (96.2%), Clostridium mayombei (96.2%), Clostridium bartlettii (96.0%) and Clostridium irregulare (95.5%). All these species show very low 16S rRNA gene sequence similarity (genus Clostridium. DNA-DNA hybridization with closely related reference strains indicated reassociation values below 32%. On the basis of phenotypic and genetic studies, a novel genus, Romboutsia gen. nov., is proposed. The novel isolate CRIBT (=DSM 25109T=NIZO 4048T) is proposed as the type strain of the type species, Romboutsia ilealis gen. nov., sp. nov., of the proposed novel genus. It is proposed that C. lituseburense is transferred to this genus as Romboutsia lituseburensis comb. nov. Furthermore, the reclassification into novel genera is proposed for C. bartlettii, as Intestinibacter bartlettii gen. nov., comb. nov. (type species of the genus), C. glycolicum, as Terrisporobacter glycolicus gen. nov., comb. nov. (type species of the genus), C. mayombei, as Terrisporobacter mayombei gen. nov., comb. nov., and C. irregulare, as Asaccharospora irregularis gen. nov., comb. nov. (type species

  1. Siamia luxuriosa gen. et sp. nov., a new synnematous hyphomycete from Thailand

    Robert, Vincent; Decock, Cony; Castañeda Ruíz, Rafael F.

    2000-01-01

    A new synnematous hyphomycete, Siamia luxuriosa gen. et sp. nov., is described from Khao Yai National Park, Thailand. The genus is characterised by having long, dark synnemata, conidiogenous cells with numerous protuberant, cylindrical, thickened unilaterally arranged scars, and long, slightly

  2. Download - GenLibi | LSDB Archive [Life Science Database Archive metadata

    Full Text Available switchLanguage; BLAST Search Image Search Home About Archive Update History Data ...access [here]. About This Database Database Description Download License Update History of This Database Site Policy | Contact Us Download - GenLibi | LSDB Archive ...

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  4. Safety Design Criteria (SDC) for Gen-IV Sodium-cooled Fast Reactor

    Nakai, Ryodai

    2013-01-01

    SDC Development Background & Objectives: • Safety Design Criteria (SDC) Development for Gen-IV SFR: – Proposed at the GIF Policy Group (PG) meeting in October 2010 –SDC “harmonization” is increasingly important for: • Realization of enhanced safety designs meeting to Gen-IV safety goals and safety approach common to SFR systems; • Preparation for the forthcoming licensing in the near future; • Because Gen-IV SFR are progressing into conceptual design stage. • The SDC is the Reference criteria: – Of the designs of safety-related Structures, Systems & Components that are specific to the SFR system; – For clarifying the requisites systematically & comprehensively; – When the technology developers apply the basic safety approach and use the codes & standards for conceptual design of the Gen-IV SFR system

  5. Transformação genética em espécies florestais.

    Claudia Studart-Guimarães; Cristiano Lacorte; Ana Cristina Miranda Brasileiro

    2010-01-01

    A transformação genética, que compreende a introdução de genes exógenos de forma controlada no genoma de uma célula vegetal e posterior regeneração da planta transgênica, tem contribuído com os programas de melhoramento genético de plantas pela obtenção de genótipos com novas características de interesse. O melhoramento de espécies florestais é limitado por características intrínsecas a tais espécies, como a altura dos indivíduos e o ciclo longo de vida. A transformação genética constitui, po...

  6. A Software-Assurance Design Approach for NextGen Enabling Technologies, Phase I

    National Aeronautics and Space Administration — The Next Generation Air Transportation System (NextGen) brings significant advancements to the current management of the National Airspace (NAS). These fundamental...

  7. Ekspresi Gen CYP19 Aromatase, Estrogen, Androgen pada penderita Periodontitis Agresif

    Dahlia Herawati

    2016-11-01

    Full Text Available Kepadatan tulang tubuh ditentukan oleh gen CYP19 aromatase, hormon estrogen dan androgen. Pada periodontitis agresif terjadi perkembangan cepat kerusakan tulang alveolar, dan kerusakan tulang alveoler tersebut tidak diimbangioleh regenerasi tulang. Tujuan penelitian ini adalah menunjukkan ekspresi gen CYP19 aromatase, estrogen, androgen pada penderita periodontitis agresif agar dapat untuk menjadi pertimbangan pada saat melakukan perawatan periodontal. Metode penelitian, pemeriksaan ekspresi gen aromatse CYP19 berasal dari spesimen tulang alveolar menggunakan imunohistokimia, pengukuran hormon estrogen dan androgen dari serum menggunakan Vidas: Elfa. Hasil penelitian ekspresi gene CYP19 aromatase pada periodontitis agresif menunjukkan gambaran lebih rendah densitasnya dibandingkan pada nonperiodontitis. Estrogen dan androgen pad aperiodontitis agresif ada kecenderungan lebih rendah dibandingkan pada nonperiodontitis. Kesimpulan regenerasi tulang alveoler pad a periodontitis agresif terhambat karena sedikitnya gen CYP19 aromatase dan hormon estrogen dan androgen yang berperan pada pembentukan tulang alveoler kurang memadai.

  8. Neofomitella polyzonata gen. et sp. nov., and N. fumosipora and N. rhodophaea transferred from Fomitella

    Li, H.J.; Li, X.C.; Vlasák, Josef; Dai, Y.C.

    2014-01-01

    Roč. 129, č. 1 (2014), s. 7-20 ISSN 0093-4666 Institutional support: RVO:60077344 Keywords : Basidiomycota * phylogeny * polyporaceae * taxonomy Subject RIV: EB - Gen etics ; Molecular Biology Impact factor: 0.705, year: 2014

  9. CLONACIÓN Y FILOGENIA MOLECULAR DE UN SEGMENTO DEL GEN CODANTE DE LA ACTINA DE MYRCIARIA DUBIA “CAMU-CAMU”: UN CANDIDATO PARA GEN DE REFERENCIA

    Juan Carlos Castro Gómez

    2012-12-01

    Full Text Available Myrciaria dubia “camu-camu” es un frutal amazónico caracterizado por su amplia variación de vitamina C. Pero los estudios genético moleculares que puedan explicar esta variación son limitados. Por ello nuestro objetivo fue realizar la clonación y filogenia molecular de un segmento del gen codante de la actina de M. dubia. Las muestras fueron obtenidas de la colección de germoplasma del INIA. Luego, el ARN fue purificado y mediante RT-PCR con cebadores degenerados se amplificó un segmento del gen. En base a la secuencia obtenida se diseñaron cebadores específicos para PCR en tiempo real. Los resultados muestran que se ha aislado, clonado y secuenciado un segmento del gen codante de actina de M. dubia y detectado su expresión en hojas, pulpa y cáscara de M. dubia. Así, con el soporte de herramientas bioinformáticas y uso de técnicas de biología molecular hemos aislado, clonado y secuenciado un segmento del gen codante de la actina de M. dubia. Asimismo, los análisis realizados muestran que el gen se expresa y presenta niveles similares de expresión en hojas, pulpa y cáscara de M. dubia. Sin embargo, es necesario realizar más experimentos a fin de verificar su estabilidad de expresión.

  10. TRANSFER GEN ANTIVIRUS PADA EMBRIO UDANG WINDU, Penaeus monodon DALAM BERBAGAI KONSENTRASI DEOXYRIBO NUCLEIC ACID

    Andi Parenrengi

    2011-12-01

    Full Text Available Teknologi transgenesis khususnya rekayasa genetik untuk menghasilkan udang windu resisten penyakit merupakan salah satu strategi yang dapat dilakukan dalam upaya pemecahan masalah penyakit yang menimpa budidaya udang windu. Teknologi transgenesis khususnya transfer gen antivirus pada udang windu telah berhasil dilakukan melalui teknik transfeksi. Meskipun demikian optimalisasi komponen teknologi tersebut masih perlu dilakukan. Konsentrasi DNA gen merupakan salah satu komponen teknologi transgenesis yang harus dioptimalkan untuk mendapatkan efisiensi dalam transfer gen. Penelitian bertujuan untuk mengetahui konsentrasi DNA gen antivirus yang optimal sebagai bahan transfer gen ke embrio menggunakan metode transfeksi. Embrio udang windu yang diperoleh dari hasil pemijahan induk asal Aceh, dikoleksi 5-10 menit setelah memijah dengan kepadatan 625 telur/2 mL. Transfeksi dilakukan dengan menggunakan media larutan transfeksi jetPEI dengan konsentrasi DNA gen antivirus sebagai perlakuan, yakni: 5, 10, dan 15 µg serta kontrol positif (tanpa plasmid DNA dan negatif (tanpa plasmid DNA dan larutan transfeksi, masing-masing 3 ulangan. Embrio hasil transfeksi ditetaskan pada stoples berisi air laut sebanyak 2 L yang diletakkan pada waterbath. Hasil penelitian menunjukkan bahwa gen antivirus telah berhasil diintroduksi ke embrio udang windu. Hasil analisis ragam menunjukkan bahwa perbedaan konsentrasi DNA (5-15 µg tidak berpengaruh nyata (P>0,05 terhadap daya tetas embrio udang windu. Analisis ekspresi gen pada larva udang windu juga menunjukkan adanya aktivitas ekspresi gen antivirus pada semua perlakuan konsentrasi DNA, di mana ekspresi gen antivirus pada larva transgenik lebih tinggi dibandingkan dengan kontrol (tanpa transfeksi. Sintasan pasca-larva PL-1 yang didapatkan pada penelitian ini adalah 12,0%; 10,0%; 10,6%; 12,3%; dan 14,2% masing-masing untuk perlakuan konsentrasi plasmid DNA 5 µg, 10 µg, 15 µg, kontrol positif dan negatif, di mana

  11. KARAKTERISTIK SEKUEN cDNA PENGKODE GEN ANTI VIRUS DARI UDANG WINDU, Penaeus monodon

    Andi Parenrengi

    2016-11-01

    Full Text Available Transgenesis pada ikan merupakan sebuah teknik modern yang berpotensi besar dalam menghasilkan organisme yang memiliki karakter lebih baik melalui rekombinan DNA gen target termasuk gen anti virus dalam peningkatan resistensi pada udang. Gen anti virus PmAV (Penaeus monodon Anti Viral gene merupakan salah satu gen pengkode anti virus yang berasal dari spesies krustase. Penelitian ini dilakukan untuk mengetahui karakteristik gen anti virus yang diisolasi dari udang windu, Penaeus monodon. Isolasi gen anti virus menggunakan metode Polymerase Chain Reaction (PCR dan selanjutnya dipurifikasi untuk sekuensing. Data yang dihasilkan dianalisis dengan program Genetyx Versi 7 dan basic local alignment search tool (BLAST. Hasil penelitian menunjukkan bahwa gen anti virus PmAV yang berhasil diisolasi dari cDNA udang windu dengan panjang sekuen 520 bp yang mengkodekan 170 asam amino. BLAST-N menunjukkan tingkat similaritas yang sangat tinggi (100% dengan gen anti virus yang ada di GeneBank. Komposisi asam amino penyusun gen anti virus yang paling besar adalah serin (10,00%, sedangkan yang terkecil adalah asam amino prolin dan lisin masing-masing 1,76%. Analisis sekuen gen dan deduksi asam amino (BLAST-P memperlihatkan adanya C-type lectin-like domain (CTLD yang memiliki kemiripan dengan gen C-type lectin yang diisolasi dari beberapa spesies krustase. Transgenic fish technology is a potential modern technique in producing better character organism through DNA recombinant of target genes including anti viral gene for improvement of shrimp immunity. PmAV (Penaeus monodon Anti Viral gene is one of anti viral genes isolated from crustacean species. The research was conducted to analyze the characteristics anti viral gene isolated from tiger prawn, Penaeus monodon. Anti viral gene was isolated using Polymerase Chain Reaction (PCR technique and then purified for sequencing. Data obtained were analyzed using Genetyx Version 7 software and basic local alignment

  12. Description of Sharon gen. nov. for the Chilean species Asaphes amoenus Philippi, 1861 (Coleoptera: Elateridae)

    Elizabeth T. Arias-Bohart; Mario Elgueta

    2015-01-01

    Sharon gen. nov. is here described to include Asaphes? amoenus Philippi, 1861 comb. nov. from Chile. A redescription of the species is based on the female holotype and material from different geographic locations. Candèze (1891) placed Asaphes amoenus and Parasaphes elegans in the suprageneric group Asaphites. We discuss differences between Sharon gen. nov. and Hemicrepidius Germar, 1839, where Asaphes amoenus was later placed by Blackwelder (1944). Based on morphological characters, Sharon g...

  13. GenRGenS: Software for Generating Random Genomic Sequences and Structures

    Ponty , Yann; Termier , Michel; Denise , Alain

    2006-01-01

    International audience; GenRGenS is a software tool dedicated to randomly generating genomic sequences and structures. It handles several classes of models useful for sequence analysis, such as Markov chains, hidden Markov models, weighted context-free grammars, regular expressions and PROSITE expressions. GenRGenS is the only program that can handle weighted context-free grammars, thus allowing the user to model and to generate structured objects (such as RNA secondary structures) of any giv...

  14. GenMapDB: a database of mapped human BAC clones

    Morley, Michael; Arcaro, Melissa; Burdick, Joshua; Yonescu, Raluca; Reid, Thomas; Kirsch, Ilan R.; Cheung, Vivian G.

    2001-01-01

    GenMapDB (http://genomics.med.upenn.edu/genmapdb) is a repository of human bacterial artificial chromosome (BAC) clones mapped by our laboratory to sequence-tagged site markers. Currently, GenMapDB contains over 3000 mapped clones that span 19 chromosomes, chromosomes 2, 4, 5, 9–22, X and Y. This database provides positional information about human BAC clones from the RPCI-11 human male BAC library. It also contains restriction fragment analysis data and end sequen...

  15. Medicamentos genéricos y de marca-Calidad e intercambiabilidad

    Rua F.

    2012-03-01

    Full Text Available El interés por los medicamentos genéricos procede de la necesidad de los sistemas sanitarios de reducir la factura sanitaria sin merma de los objetivos de salud. Su expansión y uso requieren la aceptación de la población y de los profesionales. También requieren que se despejen algunas dudas sobre su verdadera equivalencia respecto a los medicamentos originales. Desde su introducción en el mercado farmacéutico existe el debate de si son correctamente investigados y de alta calidad. No son infrecuentes los conceptos equivocados entre los profesionales sobre los genéricos, en especial, el supuesto hecho de que pueden llegar a contener hasta un 20% menos de concentración en principio activo. Estas creencias erróneas sugieren una situación de desventaja en la eficacia y la tolerabilidad de los medicamentos genéricos comparados con sus equivalentes de marca, disminuyendo la credibilidad de los mismos. Así, en una encuesta realizada en 2008 los farmacéuticos opinaron que los genéricos y las marcas son diferentes en eficacia (26%, equivalencia (28% y, sobre todo, en la calidad del excipiente (46%, aumentando la percepción de que los genéricos son diferentes en función del laboratorio que los fabrica (52,8%. En este artículo, con el fin de ampliar los conocimientos sobre medicamentos genéricos, solucionar dudas y proporcionar información, objetiva, clara y rigurosa, se revisan los posibles prejuicios sobre genéricos y se exponen las evidencias que existen en torno a los mismos, como los requisitos de bioequivalencia de los productos genéricos, analizando si ésta corrobora adecuadamente la equivalencia terapéutica y de intercambio.

  16. Genes and proteins of Escherichia coli K-12 (GenProtEC).

    Riley, M

    1997-01-01

    GenProtEC is a database of Escherichia coli genes and their gene products, classified by type of function and physiological role and with citations to the literature for each. Also present are data on sequence similarities amongE.coliproteins with PAM values, percent identity of amino acids, length of alignment and percent aligned. GenProtEC can also be accessed through the World Wide Web at URL http://mbl.edu/html/ecoli.html .

  17. Traffic Generator (TrafficGen) Version 1.4.2: Users Guide

    2016-06-01

    the network with Transmission Control Protocol and User Datagram Protocol Internet Protocol traffic. Each node generating network traffic in an...TrafficGen Graphical User Interface (GUI) 3 3.1 Anatomy of the User Interface 3 3.2 Scenario Configuration and MGEN Files 4 4. Working with...for public release; distribution is unlimited. vi List of Figures Fig. 1 TrafficGen user interface

  18. PRODUCTIVE GENERATIONS AND CAREERS: WHAT DO (Y GEN WOMEN WANT?

    Ana Heloísa Costa Lemos

    2014-07-01

    Full Text Available Despite the attention that Generation Y has received in recent times, studies that map the attitudes related to work of these individuals has devoted little attention to understanding the differences that gender can produce in the same generational group. However, we believe that gender differences should be better understood, because, according to the IBGE (2012, women represent 45.4% of the current Brazilian labor force. The growing importance of women in the labor market brings the challenge for organizations to attract and retain that portion of the workforce, whose demands are not necessarily equal those of men. The scarcity of studies on the expectations related to career of Gen Y women motivated the present work, which sought to understand the desires of young professionals with regard to the construction of their professional careers. To answer these questions we carried out a qualitative research, interviewing young women born between 1980 and 2000. We tried to understand what these professionals expect from its insertion in the labor market. The results confirm the analysis of the descriptions of the recent literature on Yrs, because the interviewees proved eager for success, professional recognition and attractive remuneration, but also highlight differences and indicate some specifics aspects related to the gender considerations, as expressed by these young woman, which expect to lower their work dedication when they become mothers and wives.

  19. De compras por el supermercado genético

    Singer, Peter

    2002-12-01

    Full Text Available Should we say that selective abortion is a “powerful message that we seek to eliminate future persons”? When deaf parents want to have a deaf children, Are they crazy? Are they advocates of a culture –the Deaf culture? If genetic engineering can give us health, intelligent, and athletic childrens, why say not to this advantages? The aim of this article is not to deal with all objections that could be urged against these options; the purpose is developing a clear understanding of the central values at stake.

    ¿Estamos eliminando una cultura, la de los sordos, cuando tratamos de evitar que nazcan niños sordos? El aborto terapéutico, ¿significa que, por ejemplo, creemos que las vidas de los afectados por síndrome de Down son vidas de menor valor que las vidas “normales”? Si se permitiera la manipulación genética de los embriones ¿sería poco ético encargar hijos guapos y altos? Este artículo no aporta respuestas a estas preguntas, pero sí que plantea los términos para dar cuenta de ellas y eleva acta de lo difícil que es dar una respuesta concluyente.

  20. Environmental sensitivity studies for Gen-IV roadmap DUPIC scenario

    Jeong, Chang Joon

    2004-03-01

    The environmental effect of the DUPIC (Direct Use of Spent PWR Fuel in CANDU Reactors) fuel cycle, which is considered as one of the partial recycle scenario in Gen-IV roadmap, has been analyzed by using the dynamic analysis method. Through the parametric calculations for the DUPIC fuel cycle deployment time and the fraction of the DUPIC reactors, the environmental effects of the fuel cycle for important parameters such as the amount of spent fuel and the combined amounts of plutonium and minor actinides were estimated and compared to those of the once-through LWR fuel cycle. The results of the sensitivity calculations showed that an early deployment of the DUPIC fuel cycle with a high DUPIC reactor fraction can reduce the accumulation of spent fuel by up to 40%. More important is the associated reduction in the combined amount of plutonium and minor actinides, which may reduce the key repository parameter (long term decay heat). Therefore it is expected that favorable environmental effects will be the outcome of the implementation of the DUPIC fuel cycle

  1. Université de Genève

    2008-01-01

    Ecole de physique - Département de physique nucléaire et corspusculaire 24, quai Ernest-Ansermet 1211 GENÈVE 4 Tél: (022) 379 62 73 - Fax: (022) 379 69 92 Lundi 1er décembre 2008 PARTICLE PHYSICS SEMINAR at 17.00 hrs – Stückelberg Auditorium Superconducting Interfaces between Insulating Oxide Prof. Jean-Marc TRISCONE / Université de Genève At interfaces between complex oxides, electronic systems with unusual properties can be generated. A striking example is the interface between LaAlO3 and SrTiO3, two good insulating perovskite oxides, which was found in 2004 to be conducting with a high mobility. We recently discovered that the ground state of this system is a superconducting condensate, with a critical temperature of about 200 mK. The characteristics observed for the superconducting transitions are consistent with a two-dimensional superconducting sheet as thin as a few nanometers. Recent field effect experiments revealed the sensitivity of the normal and superconducting states to the carrier d...

  2. Université de Genève

    2008-01-01

    Ecole de physique - Département de physique nucléaire et corspusculaire 24, quai Ernest-Ansermet - 1211 GENÈVE 4 Tél: (022) 379 62 73 - Fax: (022) 379 69 92 Lundi 1er décembre 2008 PARTICLE PHYSICS SEMINAR at 17.00 hrs – Stückelberg Auditorium Superconducting Interfaces between Insulating Oxide Prof. Jean-Marc TRISCONE / Université de Genève At interfaces between complex oxides, electronic systems with unusual properties can be generated. A striking example is the interface between LaAlO3 and SrTiO3, two good insulating perovskite oxides, which was found in 2004 to be conducting with a high mobility. We recently discovered that the ground state of this system is a superconducting condensate, with a critical temperature of about 200 mK. The characteristics observed for the superconducting transitions are consistent with a two-dimensional superconducting sheet as thin as a few nanometers. Recent field effect experiments revealed the sensitivity of the normal and superconducting states to the carrier ...

  3. Testes genéticos na eqüideocultura

    Eduardo Geraldo Alves Coelho

    2008-07-01

    Full Text Available Nos últimos anos a equideocultura deu um salto qualitativo, havendo hoje, no mercado, animais de alto valor e geneticamente superiores. Isso é possível, em grande parte, devido aos avanços na área da genética animal, os quais permitem identificar, não apenas anomalias, mas também diversos genes de interesse econômico. Com o auxílio da citogenética pode-se identificar indivíduos com alterações no número ou na estrutura dos cromossomos, o que em muitos casos afeta principalmente a reprodução. Também a confirmação de genealogia, anteriormente feita por tipagem sangüínea e atualmente por testes de DNA, tem papel extremamente importante, não apenas por garantir a ascendência dos animais, mas também porque um pedigree confiável pode permitir ao criador identificar a origem de problemas genéticos em seu rebanho e reduzi-los ou mesmo, eliminá-los. Ainda com as ferramentas da biologia molecular, podemos hoje, identificar indivíduos que apresentam genes desejáveis ou indesejáveis, o que nos permite selecioná-los precocemente, reduzindo assim, os custos do produtor e aumentando o valor agregado dos animais. Entre tais genes podemos destacar os que identificam portadores ou afetados por mutações genéticas indesejáveis como: SCID (Síndrome da Imunodeficiência Combinada, HYPP (Parilisa Hipercalêmica, HERDA (Astenia Dérmica Regional Hereditária Eqüina, etc. Também a identificação dos genes que determinam a cor ou padrão da pelagem já pode ser feita direta ou indiretamente (por meio de marcadores genéticos, como é o caso dos genes para as pelagens Overo, Tobiano, etc. Com os avanços no estudo do genoma eqüino muito mais estará disponível em breve, o que certamente só trará maiores contribuições à equideocultura mundial.In the last few years the horse breeding industry is achieving significant progresses producing animals of high commercial value and genetically superior. It was possible, mainly due to

  4. Neurocomportamento de recém-nascidos a termo, pequenos para a idade gestacional, filhos de mães adolescentes Neurobehavior of full-term small for gestational age newborn infants of adolescent mothers

    Marina C. de Moraes Barros

    2008-06-01

    Full Text Available OBJETIVO: Comparar o neurocomportamento de recém-nascidos a termo pequenos (PIG e adequados (AIG para a idade gestacional, filhos de mães adolescentes. MÉTODOS: Estudo transversal prospectivo de nascidos a termo AIG e PIG, com 24-72 horas de vida, sem afecções do sistema nervoso central. Os neonatos foram avaliados por meio da Neonatal Intensive Care Unit Network Neurobehavioral Scale (NNNS para: habituação, atenção, despertar, controle, manobras para a orientação, qualidade dos movimentos, excitabilidade, letargia, reflexos não ótimos, assimetria, hipertonia, hipotonia e sinais de estresse e abstinência. A comparação dos grupos AIG e PIG foi feita por análise de variância e teste do qui-quadrado. Aplicou-se a regressão multivariada para analisar os fatores associados ao escore de cada variável do NNNS. RESULTADOS: Dos 3.685 nascidos no local do estudo, 928 (25% eram de mães adolescentes. Desses, 477 satisfizeram os critérios de inclusão, sendo 419 (88% AIG e 58 (12% PIG. A análise univariada não mostrou diferença em nenhuma das variáveis da NNNS entre os PIG e os AIG. Na análise multivariada, os PIG nascidos de parto vaginal apresentaram menor escore na variável qualidade de movimentos do que os nascidos por cesárea. Os PIG nascidos com anestesia local ou sem anestesia apresentaram maior escore na variável excitabilidade do que os nascidos sob anestesia loco-regional. Os PIG femininos tiveram menor escore na variável sinais de estresse/abstinência que os masculinos. CONCLUSÃO: Os recém-nascidos PIG de mães adolescentes mostraram menor qualidade de movimento, mais excitabilidade e mais sinais de estresse, em associação com o sexo do neonato e com variáveis relacionadas ao parto.OBJECTIVE: To compare the neurobehavior of small (SGA and adequate (AGA for gestational age full-term neonates born to adolescent mothers. METHODS: This prospective cross-sectional study included full-term newborn infants aged 24

  5. Referencias poblacionales argentinas de peso al nacer según multiplicidad del parto, sexo y edad gestacional Reference birthweights for the Argentine population by multiplicity of birth, sex, and gestational age

    Marcelo Luis Urquia

    2011-02-01

    Full Text Available OBJETIVO: Desarrollar referencias nuevas y mejoradas de peso al nacer según la edad gestacional (EG, el sexo y la multiplicidad del parto, para la población argentina en su conjunto. MÉTODOS: La población de estudio incluyó a todos los nacidos vivos de partos simples (n = 3 478 286 y dobles (n = 57 654 en Argentina durante el período 2003-2007. Los probables errores en la clasificación de la EG basada en la fecha de la última menstruación fueron corregidos con el uso de modelos de distribuciones normales mixtas. Los percentiles se obtuvieron mediante la regresión de cuantiles, que además posibilitó el suavizamiento de las curvas. RESULTADOS: Se obtuvieron curvas de peso al nacer para partos simples entre las semanas 22 y 43 de gestación y para partos dobles entre las semanas 24 y 41, según el sexo del neonato. Comparadas con estudios previos, estas referencias no sobreestiman la proporción de nacidos vivos grandes para su EG. Se observó también un aumento del peso al nacer a lo largo del período de estudio. CONCLUSIONES: Las curvas propuestas tienen las ventajas de basarse en grandes números, de ser representativas de los nacimientos argentinos más recientes, de distinguir el tipo de parto y el sexo de los neonatos, y de minimizar los errores de clasificación de la EG. Constituyen por lo tanto una herramienta útil para medir desigualdades y así identificar grupos poblacionales con mayor riesgo de eventos perinatales adversos.OBJECTIVE: To develop new and improved reference birthweights for the Argentine population as a whole with a breakdown by gestational age (GA, sex and multiplicity of birth. METHODS: The population studied included all live births resulting from single (n = 3,478,286 and double (n = 57,654 births in Argentina during the period 2003- 2007. The probable errors in classifying GA on the basis of last menstruation were corrected using normal mixture models. The percentiles were obtained by quantile

  6. ¿Puede el ejercicio físico moderado durante el embarazo actuar como un factor de prevención de la Diabetes Gestacional? (Can moderate physical exercise during pregnancy act as a factor in preventing Gestational Diabetes?

    Yaiza Cordero Rodríguez

    2012-01-01

    Full Text Available The aim of the present study was to know the effectiveness of exercise of a moderate program developed during pregnancy in the excessive maternal weight gain and development of Gestational Diabetes (GD. We performed a clinical trial, randomized, unmatched, not masked by mean the collaboration between the Department of Gynecology and Obstetrics of Health Center of Torrelodones (Madrid and the Polytechnic University of Madrid. 55 pregnant women without obstetric contraindications were studied, (age= 32,9±3,9 years, all of them caucasian, 25 in the treatment group and 30 in the control group. A physical exercise program was developed (land/water three times per week during pregnancy. According to our resultats, treatment group showed a lower maternal weight gain than in the control group (12.820±3.682 g and 14.780 g ± 3.427 g respectively, p=0.03. The values in the O'Sullivan test are lower in the treatment group than in the control group (102,9±17,7 gr/dL vs 125,6±30,8 gr/dL respectively, p=0,002. Not diagnosed any cases of GD in the treatment group while the control group 2 cases were diagnosed. The exercise done during the pregnancy reduces maternal weight gain, values of O’Sullivan score and apparently acts as a preventive factor of the GD.ResumenEl presente trabajo pretende conocer la eficacia de un programa de ejercicio f��sico moderado desarrollado durante todo el embarazo en la excesiva ganancia de peso materno y el desarrollo de la Diabetes Gestacional (DG. Se realizó un ensayo clínico, aleatorizado, no apareado, no enmascarado mediante una colaboración entre el Servicio de Ginecología y Obstetricia del Centro de Salud de Torrelodones y la Universidad Politécnica de Madrid. 55 gestantes sin contraindicaciones obstétricas fueron estudiadas, (edad=32,9±3,9 años, todas ellas caucásicas, 25 en el grupo de tratamiento y 30 en el de control. Se desarrolló un programa de ejercicio físico (seco/agua durante todo el embarazo

  7. Preditores Clínicos e Histopatológicos de Tumor Trofoblástico Gestacional pós-Mola Hidatiforme Completa Clinical and Histopathological Predictors of Gestational Trophoblastic Tumor +after Complete Hydatidiform Mole

    Izildinha Maestá

    2000-04-01

    Full Text Available Objetivo: definir os preditores clínicos e histopatológicos mais eficientes da evolução da mola hidatiforme completa (MHC para tumor trofoblástico gestacional (TTG. Métodos: estudo prospectivo clínico e histopatológico de todas as portadoras de MHC, atendidas entre 1990 e 1998 no Hospital das Clínicas de Botucatu -- UNESP. A avaliação clínica pré-esvaziamento molar classificou a gravidez molar em: MHC de alto risco e MHC de baixo risco. Foram analisados os preditores clínicos para TTG, estabelecidos por Goldstein et al.¹ e por outros autores2--10. A avaliação histopatológica incluiu a determinação do diagnóstico de MHC, segundo os critérios de Szulman e Surti11, e o reconhecimento dos fatores de risco para TTG, de Ayhan et al.8. Os preditores clínicos e histopatológicos foram correlacionados com o desenvolvimento de TTG pós-molar. Resultados: em 65 portadoras de MHC, cistos do ovário maiores que 6 cm e tamanho uterino maior que 16 cm foram os preditores clínicos mais eficientes de TTG. A proliferação trofoblástica, a atipia nuclear, a necrose/hemorragia, a maturação trofoblástica e a relação cito/sinciciotrofoblasto não foram preditores significativos para TTG. A correlação entre preditor clínico e histopatológico para o desenvolvimento de TTG não foi possível porque nenhum parâmetro histopatológico foi significativo. Conclusões: mais estudos são necessários para avaliar possíveis preditores de persistência (TTG e sua aplicação no contexto clínico das MHC. Enquanto isso, a determinação seriada de hCG sérico permanece o único indicador prognóstico seguro para TTG pós-MHC.Purpose: to determine the most efficient clinical and histopathological predictors of complete hydatidiform mole (CHM after gestational trophoblastic tumors (GTT. Methods: a prospective clinical and histopathological study was performed on all patients with CHM treated at the University Hospital of Botucatu between 1990

  8. Construction of the birth weight by gestational age population reference curves of Catalonia (Spain: Methods and development Elaboración de las curvas poblacionales de referencia del peso al nacer, según la edad gestacional, de Cataluña: métodos y desarrollo

    Francisca Ramos

    2009-02-01

    Full Text Available Infant size at birth is a useful indicator to evaluate fetal growth in relation to gestational age. There is no standard model to create anthropometric reference curves in neonates, but the method chosen could determine the reference values estimated. We describe the methods used to construct population-based reference curves of birth weight for gestational age in Catalonia, Spain. These methods included detection of implausible values of birth weight for gestational age by a probabilistic cluster model, utilization of the Generalized Additive Model for Location and Scale method to obtain smoothed percentiles and z-scores, and calculation of 95% confidence intervals by bootstrapping. To our knowledge, these are the first reference curves in neonates constructed through a method allowing asymmetric distributions with kurtosis to be modelled. Estimation of confidence intervals is useful to determine which reference intervals can be employed to assess newborn size.La evaluación del tamaño en el nacimiento es uni ndicador útil para evaluar elcrecimiento fetal en relación con la edad gestacional. No hay un modelo estándar para crear curvas de referencia antropométricas en recién nacidos, pero el método escogido podría determinar los valores de referencia estimados. Describimos los métodos utilizados para elaborar las curvas de referencia poblacionales del peso al nacer según la edad gestacional en Cataluña, España. Estos métodos incluyen la detección de los valores inverosímiles de peso al nacer para la edad gestacional mediante un modelo probabilístico de agrupaciones, la utilización del modelo Generalized Additive Model for Location and Scale para la obtención de los percentiles alisados, y las puntuaciones z y el cálculo de los intervalos de confianza del 95% mediante remuestreos. Hasta donde conocemos, éstas son las primeras curvas de referencia en recién nacidos en las cuales se ha utilizado un método que permite modelar

  9. Programa nacional de prevención y consejería genética del retinoblastoma mediante detección de mutaciones en el gen RB.

    H. Frayle

    2001-07-01

    una la doble mutación inactivante del gen Rb, exclusivamente somática en los esporádicos y germinal más somática en los hereditarios. Esta investigacin tuvo como objetivo caracterizar las mutaciones en el gen Rb mediante secuenciación directa y evaluar su utilidad en la consejería genética.

  10. Enfermedades genéticas más frecuentes en pacientes atendidos en consulta de genética clínica

    Elibett Carcasés Carcasés

    2015-02-01

    Full Text Available La estimación de la prevalencia de las enfermedades genéticas se dificulta, entre otras causas, por su rareza. Se realizó un estudio descriptivo retrospectivo, para identificar las enfermedades genéticas de mayor prevalencia en pacientes atendidos por este programa en el Centro Provincial de Genética Médica de Las Tunas, Cuba; desde el año 1989 hasta julio de 2014. Se revisaron todas las historias clínicas. Predominó el origen monogénico (69 %, siendo los síndromes dismórficos los más numerosos y diversos, entre ellos los neurocutáneos, que representaron el 35 %. La enfermedad genética monogénica con mayor número de casos fue la Neurofibromatosis I con el 14,4 % y el 22,2 % de las enfermedades eran de origen monogénico y dismórfico. La Trisomía 21 representó el 77 % de la causa cromosómica. En el origen multifactorial prevalecieron los defectos congénitos mayores, entre ellos los defectos reductivos de miembros (27 %

  11. Genética de la preeclampsia: una aproximación a los estudios de ligamiento genético.

    Nora Alejandra Zuluaga

    2004-06-01

    Full Text Available La preeclampsia es considerada un problema de salud pública debido a su alta prevalencia. Muchas investigaciones coinciden en que su origen se relaciona con la interacción entre factores genéticos y ambientales. Por esta razón, múltiples estudios han explorado tales factores genéticos tratando de identificar regiones cromosómicas y genes candidatos cuyas variantes se relacionen con una mayor susceptibilidad a la enfermedad. Diversos estudios de asociación han identificado algunos genes de susceptibilidad a la preeclampsia, pero los resultados no se han replicado consistentemente en todas las poblaciones, quizá por su complejidad clínica y genética. El levantamiento de mapas de genes y regiones cromosómicas basado en análisis de ligamiento ha mostrado resultados interesantes con algunos marcadores en los cromosomas 2 y 4. En este sentido, hay muchas expectativas con respecto a los genes localizados en tales regiones candidatas, debido a que la identificación de los factores de riesgo genético podría ayudar al entendimiento de esta condición y en proveer claves para su prevención y tratamiento.

  12. Marinagarivorans algicola gen. nov., sp. nov., isolated from marine algae.

    Guo, Ling-Yun; Li, Dong-Qi; Sang, Jin; Chen, Guan-Jun; Du, Zong-Jun

    2016-03-01

    Two novel agar-degrading, Gram-stain-negative, motile, heterotrophic, facultatively anaerobic and pale yellow-pigmented bacterial strains, designated Z1 T and JL1, were isolated from marine algae Gelidium amansii (Lamouroux) and Gracilaria verrucosa , respectively. Growth of the isolates was optimal at 28-30 °C, pH 7.0-7.5 and with 2-3 % (w/v) NaCl. Both strains contained Q-8 as the sole respiratory quinone. The major cellular fatty acids in strain Z1 T were C 18 : 1 ω7 c , C 16 : 0 and summed feature 3 (C 16 : 1 ω7 c and/or iso-C 15 : 0 2-OH). The predominant polar lipids in strain Z1 T were phosphatidylethanolamine, phosphatidylglycerol and an aminolipid. The genomic DNA G+C content of both strains was 45.1 mol%. Strains Z1 T and JL1 were closely related, with 99.9 % 16S rRNA gene sequence similarity. The average nucleotide identity (ANI) value between strains Z1 T and JL1 was 99.3 %. Phylogenetic analysis based on 16S rRNA gene sequences revealed that strains Z1 T and JL1 form a distinct phyletic line within the class Gammaproteobacteria , with less than 92.3 % similarity to their closest relatives. Based on data from the current polyphasic study, the isolates are proposed to belong to a novel species of a new genus designated Marinagarivorans algicola gen. nov., sp. nov. The type strain of the type species is Z1 T ( = ATCC BAA-2617 T  = CICC 10859 T ).

  13. Rhabdobacter roseus gen. nov., sp. nov., isolated from soil.

    Dahal, Ram Hari; Kim, Jaisoo

    2016-01-01

    An aerobic, Gram-stain-negative, oxidase- and catalase-positive, non-motile, non-spore-forming, rod-shaped, pink-pigmented bacterium, designated strain R49T, was isolated from soil. Flexirubin-type pigments were absent. Phylogenetic analysis based on its 16S rRNA gene sequence revealed that strain R49T formed a lineage within the family Cytophagaceae of the phylum Bacteroidetes that was distinct from the most closely related genera Dyadobacter (91.98-93.85 % sequence similarity), Persicitalea (88.69 %) and Runella (84.79-85.81 %). The major isoprenoid quinone was menaquinone-7 (MK-7) and the major polar lipid was phosphatidylethanolamine. The major cellular fatty acids were summed feature 3 (C16 : 1ω7c and/or C16 : 1ω6c), iso-C15 : 0, C16 : 1ω5c, C16 : 0 and iso-C17 : 0 3-OH. The DNA G+C content of strain R49T was 53.9 mol%. On the basis of phenotypic, genotypic and phylogenetic analysis, strain R49T represents a novel species of a new genus in the family Cytophagaceae, for which the name Rhabdobacter roseus gen. nov., sp. nov. is proposed. The type strain of Rhabdobacter roseus is R49T ( = KEMB 9005-318T = KACC 18395T = JCM 30685T).

  14. Programa nacional de prevención y consejería genética del retinoblastoma mediante detección de mutaciones en el gen rb.

    Frayle, H.; Guevara, G.

    2011-01-01

    El retinoblastoma es un raro tumor ocular que se diagnostica en los niños, 40% de los casos se consideran hereditarios y 60% esporádicos. El modelo genético propuesto por Knudson involucra
    una la doble mutación inactivante del gen Rb, exclusivamente somática en los esporádicos y germinal más somática en los hereditarios. Esta investigacin tuvo como objetivo caracterizar las mutaciones en el gen Rb mediante secuenciación directa y evaluar su utilidad en la consejería genética....

  15. Genética em transtornos alimentares: ampliando os horizontes de pesquisa

    Pinheiro Andréa Poyastro

    2006-01-01

    Full Text Available OBJETIVO: Revisar a literatura atual concernente à pesquisa genética em transtornos do comportamento alimentar e discutir questões relevantes ao desenvolvimento de um projeto de pesquisa genética nessa área no Brasil. MÉTODO: A revisão realizada utilizou a base de dados Medline, no período de 1984 a maio de 2005, com os seguintes termos de busca: "anorexia nervosa", "bulimia nervosa", "eating disorders", "binge eating disorder", "family studies", "twin studies", "molecular genetics studies". RESULTADOS: Os dados atuais apontam para uma contribuição relevante dos fatores genéticos na suscetibilidade à anorexia e à bulimia nervosa. A pesquisa genética com populações miscigenadas deve levar em consideração o tamanho da amostra, a densidade de genotipagem e a estratificação populacional. Através de "admixture mapping" é possível estimar a estrutura genética destas populações e localizar genes relacionados à variação étnica de doenças ou traços de interesse. CONCLUSÕES: O desenvolvimento de uma grande iniciativa de colaboração em genética de transtornos alimentares no Brasil e na América Latina viabilizará estudar os fatores genéticos em transtornos do comportamento alimentar no contexto de grupos inter-étnicos, e integrar uma nova perspectiva biológica à etiologia destes distúrbios.

  16. Salud pública, genética y ética

    Kottow Miguel H

    2002-01-01

    Full Text Available La investigación genética ha tenido una enorme expansión en recientes décadas, con repercusiones terapéuticas aún inciertas. El análisis bioético tradicional de las complejas prácticas genéticas ha sido insuficiente por sostenerse en la ética de la investigación y en la bioética de corte principialista. Los problemas éticos más importantes de la genética son de orden colectivo y deben ser abordados por una reflexión ético-social cuyo enfoque es más amplio que la agenda interpersonal del principialismo. Temas como exploraciones genéticas, cuestiones patrimoniales, manipulación génica y asignación de recursos, deben todos ser sometidos a un pensamiento inspirado en los requerimientos de la ciudadanía, en el bien común y en la definición del rol del Estado en fiscalizar actividades genéticas y en proteger a la población. El objetivo del estudio es mostrar cómo el amplio campo de la ética y de la genética tiene una mayor relevancia en el campo social que en el clínico. El objetivo del trabajo es señalar que la bioética principialista ha enfatizado los problemas éticos individuales que nacen con la intervención genética, a costa de marginar sus importantes repercusiones sociales.

  17. Salud pública, genética y ética

    Miguel H Kottow

    2002-10-01

    Full Text Available La investigación genética ha tenido una enorme expansión en recientes décadas, con repercusiones terapéuticas aún inciertas. El análisis bioético tradicional de las complejas prácticas genéticas ha sido insuficiente por sostenerse en la ética de la investigación y en la bioética de corte principialista. Los problemas éticos más importantes de la genética son de orden colectivo y deben ser abordados por una reflexión ético-social cuyo enfoque es más amplio que la agenda interpersonal del principialismo. Temas como exploraciones genéticas, cuestiones patrimoniales, manipulación génica y asignación de recursos, deben todos ser sometidos a un pensamiento inspirado en los requerimientos de la ciudadanía, en el bien común y en la definición del rol del Estado en fiscalizar actividades genéticas y en proteger a la población. El objetivo del estudio es mostrar cómo el amplio campo de la ética y de la genética tiene una mayor relevancia en el campo social que en el clínico. El objetivo del trabajo es señalar que la bioética principialista ha enfatizado los problemas éticos individuales que nacen con la intervención genética, a costa de marginar sus importantes repercusiones sociales.

  18. Mejoramiento genético acelerado de angiospermas perennes vía inducción floral por sobre-expresión del gen FT

    Rafael Urrea López

    2018-05-01

    Full Text Available Los bosques y selvas enfrentan el reto de satisfacer la demanda por recursos de una población en crecimiento, así como la amenaza del rápido cambio climático que exacerba la magnitud y frecuencia de estreses bióticos y abióticos. Para ello, es urgente acelerar el mejoramiento genético de especies forestales. Sin embargo, sus largas etapas juveniles y asincronía floral retrasan peligrosamente este proceso. El presente ensayo explora los adelantos biotecnológicos en inducción floral y su potencial aplicación en especies forestales. Entre los genes identificados y caracterizados que participan en la ruta de señalización de la floración, especial atención se destina al gen FLOWERING LOCUS T, considerado un integrador de rutas de señalización altamente conservado entre las angiospermas, que, al sobre-expresarse por ingeniería genética, es capaz de inducir la floración de forma eficiente. Esta novedosa estrategia biotecnológica se ha utilizado, recientemente, para segregar genes de resistencia a enfermedades, en un menor tiempo, en germoplasma comercial de manzana y ciruela. Permite soslayar barreras naturales que por mucho tiempo han restringido a las especies forestales al mejoramiento por selección, principalmente. Entre sus ventajas está la de poder restringirla al proceso y no al producto, para acelerar las cruzas sexuales sin modificar genéticamente la progenie; se aleja así de la controversia alrededor de la liberación y consumo de organismos genéticamente modificados, y de los costos y trámites obligatorios para los OGM para monitoreo de posibles riesgos. Se proyecta como una tecnología que puede acelerar, significativamente, el mejoramiento de especies forestales.

  19. Symphysis-fundal height curve in the diagnosis of fetal growth deviations Curva de altura uterina por edad de gestación y diagnóstico de desvíos del crecimiento fetal Curva de altura uterina por idade gestacional e diagnóstico de desvios do crescimento fetal

    Djacyr Magna Cabral Freire

    2010-12-01

    marzo y octubre de 2006, con edad de gestación por encima de 27 semanas. La altura uterina fue medida de acuerdo con técnica recomendada por el Ministerio de la Salud. El patrón-oro fue el peso fetal, estimado por el ultrasonido con base en la curva de referencia brasilera por edad de gestación. Una sub-muestra de 122 casos con pesos neonatales obtenidos hasta siete días después de la estimación del peso fetal, la clasificación de la altura uterina fue comparada con la curva de Lubchenco como estándar-oro. La sensibilidad, la especificidad y los valores predictivos positivo y negativo fueron calculados. Para comparar el desempeño de la sensibilidad entre ambas curvas de altura uterina, se utilizó la prueba chi-cuadrado de McNemar. RESULTADOS: La sensibilidad de la nueva curva para la detección de fetos pequeños para la edad de gestación fue de 51,6%, mientras que la curva del patrón-oro fue significativamente menor (12,5%. En la sub-muestra que tuvo el peso neonatal como estándar-oro, la sensibilidad de la nueva curva de referencia fue de 87,7%, mientras que la del Ministerio de la Salud exhibió 42,9% de sensibilidad para la detección de fetos pequeños para la edad de gestación. CONCLUSIONES: La capacidad diagnóstica de la nueva curva de referencia para detectar fetos pequeños para la edad de gestación fue significativamente mejor que la curva recomendada por el Ministerio de la Salud.OBJETIVO: Validar curva de referência de altura uterina por idade gestacional para o rastreamento de desvios do crescimento fetal e comparar sua performance com a curva-padrão adotada pelo Ministério da Saúde do Brasil. MÉTODOS: Estudo observacional que envolveu 753 gestantes de baixo risco de João Pessoa, PB, entre março e outubro de 2006, com idade gestacional acima de 27 semanas. A altura uterina foi medida de acordo com técnica preconizada pelo Ministério da Saúde. O padrão-ouro foi o peso fetal, estimado pelo ultrassom com base na curva de refer

  20. Biometria e armazenamento de sementes de genótipos de cacaueiro

    Lucimara Ribeiro Venial

    2017-03-01

    Full Text Available Genótipos de Theobroma cacao L. devem ser melhor estudados, para se identificar aqueles que produzem sementes mais desenvolvidas e viáveis após o armazenamento. Objetivou-se com este trabalho estudar a biometria e dois tempos de armazenamento de sementes de genótipos de cacaueiro. A biometria foi avaliada em oito genótipos de cacaueiro (tratamentos. Foram instalados testes de germinação em delineamento inteiramente ao acaso, no esquema fatorial 8 x 2 (genótipos: CCN51, PH16, CEPEC2002, Ipiranga, SJ02, PS1319, TSH1188 e Comum x dois períodos de armazenamento: 0 e dois dias. O genótipo TSH1188 apresentou maior comprimento, relação comprimento/largura, espessura e massa de 100 sementes. A absorção de água das sementes recém-colhidas dos genótipos é lenta, justificada pelos altos teores de água, o que não caracteriza padrão-trifásico. Os teores de água reduziram em média 2,3 vezes nas sementes armazenadas em relação às recém-colhidas. A germinação das sementes recém-colhidas dos genótipos foi de 100%. Após o armazenamento, as sementes do PS1319 apresentaram a menor redução da germinação (39%, enquanto as dos PH16, CEPEC2002 e SJ02 reduziram 96%. A velocidade de germinação foi maior e o tempo médio menor que dois dias nas sementes recém-colhidas do PS1319, indicando serem mais tolerante à dessecação. Sugere-se o uso dos genótipos TSH1188 e PS1319 em programas de melhoramento genético.

  1. GenMAPP 2: new features and resources for pathway analysis

    Dahlquist Kam D

    2007-06-01

    Full Text Available Abstract Background Microarray technologies have evolved rapidly, enabling biologists to quantify genome-wide levels of gene expression, alternative splicing, and sequence variations for a variety of species. Analyzing and displaying these data present a significant challenge. Pathway-based approaches for analyzing microarray data have proven useful for presenting data and for generating testable hypotheses. Results To address the growing needs of the microarray community we have released version 2 of Gene Map Annotator and Pathway Profiler (GenMAPP, a new GenMAPP database schema, and integrated resources for pathway analysis. We have redesigned the GenMAPP database to support multiple gene annotations and species as well as custom species database creation for a potentially unlimited number of species. We have expanded our pathway resources by utilizing homology information to translate pathway content between species and extending existing pathways with data derived from conserved protein interactions and coexpression. We have implemented a new mode of data visualization to support analysis of complex data, including time-course, single nucleotide polymorphism (SNP, and splicing. GenMAPP version 2 also offers innovative ways to display and share data by incorporating HTML export of analyses for entire sets of pathways as organized web pages. Conclusion GenMAPP version 2 provides a means to rapidly interrogate complex experimental data for pathway-level changes in a diverse range of organisms.

  2. Manipulación genética de seres humanos

    Manuel Santos Alcántara

    2006-08-01

    Full Text Available El gran avance que ha tenido la Genética en los últimos años y, particularmente, aquello relacionado con el desciframiento del genoma humano, ha traído a la discusión pública la posibilidad concreta de manipular genéticamente a los seres humanos. El mejoramiento o perfeccionamiento genético de los seres humanos, denominado eugenesia, actualmente se ha convertido técnicamente en una realidad, motivando una profunda reflexión de tipo ético. La pregunta básica es la siguiente: aquello que es técnicamente posible de realizar ¿es ético hacerlo? ¿Tienen derecho los padres a acceder a la tecnología genética para mejorar las características de sus hijos? En este artículo se revisan las bases científicas del mejoramiento genético de los seres humanos, y se plantean los cuestionamientos éticos más relevantes derivados de esta manipulación.

  3. Contribuciones de Sir Roland Fisher a la Estadística Genética

    Jaime Cuadros

    2004-11-01

    Full Text Available Sir Ronald Fisher (18901962 fue profesor de genética y muchas de sus innovaciones estadísticas encontraron expresión en el desarrollo de metodología en estadística genética. Sin embargo, mientras sus contribuciones en estadística matemática son fácilmente identificadas, en genética de poblaciones compartió su supremacía con Sewall Wright (1889 1988 y J. S. S. Haldane (1892 1965. Este documento muestra algunas de las mejores contribuciones de Fisher a las bases de la estadística genética, y sus interacciones con Wright y Haldane, los cuales contribuyeron al desarrollo del tema. Con la tecnología moderna, tanto la metodología la estadística como la información genética están cambiando. No obstante, muchos de los trabajos de Fisher permanecen relevantes, y pueden aun servir como una base para investigaciones futuras en el análisis estadístico de datos de DNA. El trabajo de este autor refleja su visión del papel de Ia estadística en Ia inferencia científica expresada en 1949

  4. Divergencia genética en poblaciones peruanas detectada a partir de las frecuencias haplotípicas del mtDNA y del gen nuclear MBL

    Jesús H. Córdova

    2011-01-01

    Full Text Available Objetivos: Avanzar en el conocimiento del origen de las poblaciones peruanas estudiadas en un contexto filogeográfico. Diseño: Estudio genético poblacional. Instituciones: Laboratorio de Genética Humana, Facultad de Ciencias Biológicas, Universidad Nacional Mayor de San Marcos, e Instituto de Genética y Biología Molecular, Facultad de Medicina, Universidad San Martín de Porras, Lima, Perú. Participantes: Siete poblaciones peruanas. Metodología: Análisis comparativo de los resultados a partir del estudio del mtDNA y el gen nuclear MBL de siete poblaciones peruanas, procesados de manera separada y luego combinados, utilizando el programa PHYLYP 3.65, para obtener valores FST de diferenciación genética y la construcción de árboles de distancias por aplicación del algorritmo UPGMA y el análisis subsecuente de los agrupamientos (clusters generados. Principales medidas de resultados: Árboles genéticos generados. Resultados: De manera separada, los árboles generados para cada marcador genético tuvieron topologías propias y diferentes entre sí. Procesados de manera combinada, el árbol resultante demostró que los mayores valores de diferenciación genética se hallaron en las Islas del Lago Titicaca (Puno, Perú conocidas -Taquile, Amantani y Anapia-, que fue calificada como muy alta, porque mostró valores de FST de 0.3113, 0.2949 y 0.3348 respecto de las poblaciones estudiadas, tanto fuera del Departamento de Puno -como Chachapoyas, Pucallpa y Chiclayo, respectivamente-, así como a la de los Uro del mismo Puno y del mismo Lago Titicaca (0.2837. Fuera de Puno, el par de poblaciones Chachapoyas-Pucallpa fue el menos divergente, al alcanzar entre ellas un valor de FST de 0.0108, calificándosele de pequeña. Conclusiones: El árbol obtenido del procesamiento de los marcadores vía una matriz combinada demostró que las poblaciones que habitan las islas de Taquile, Amantani y Anapia, divergen notablemente de las restantes cuatro

  5. Estudio molecular del gen MLL en 30 pacientes con leucemias agudas Molecular study of MLL gen in 30 patients with acute leukemias

    Raquel Levón Herrera

    2000-04-01

    Full Text Available Los reordenamientos del gen MLL en la banda cromosómica 11q23 son frecuentes en leucemias agudas (LA en niños y en las LA secundarias desarrolladas después de la terapia con inhibidores de la enzima topoisomerasa II. En menor medida también se aprecia en adultos con LA. La presencia de estos reordenamientos se considera un indicador de mal pronóstico asociado con resultados clínicos desfavorables, por ello es muy importante realizar su determinación en las LA. En este trabajo mostramos los resultados preliminares de la introducción del estudio del gen MLL en nuestro país mediante la técnica de Southern. Analizamos ADN de 30 pacientes con LA, incluidos niños y adultos, que en el momento del estudio se encontraban al debut o en recaída. El estudio molecular se realizó con la sonda FA4, que es un inserto genómico del gen MLL. Sólo uno de los 30 pacientes mostró bandas de reordenamiento con 2 enzimas de restricción diferentes, el resto mostró el gen MLL en configuración germinal. Es interesante destacar que el paciente con el reordenamiento era un niño con leucemia mieloblástica aguda subtipo M5b, lo cual concuerda con la literatura, donde se describe que estos reordenamientos están estrechamente correlacionados con los subtipos mielomonocítico (M4 y monocítico (M5 de leucemia mieloide aguda (LMARearrangements of MLL gen in llq23 chromosomal band are frequents in childhood type of acute leukemia (AL and in secondary AL, developed after therapy with II topoisomerase enzyme. To a lesser extent also is seen in adults with AL. Presence of theses rearrangements is considered to be a worse prognosis indicator, associated with unfavourable clinical results, that is why it is very important to carry our its assessment in AL. In this paper authors present preliminary results from introduction of study on MLL gen in our country through Southern technique. DNA from 30 patients was analized, including children and adults, that at the

  6. Jurados ciudadanos y organismos genéticamente modificados

    Luque, Emilio

    2005-04-01

    Full Text Available Apolitical sociology of food must look into the processes whereby regulatory decisions on food are made, and also into the democratic potential of their alternatives. Five "experiments in democracy" are described, in which a promising deliberative device has been used: citizens' juries. Indian and Brazilian peasants, on the one hand, and British consumers in the other took part in them, and they focused on Genetically Modified Organisms. These processes, whose defining trait is granting jurors access to expert witnesses presented by all stakeholders in the controversy, show the impressive ability of ordinary citizens to articulate their analysis of complex issues, a reassessment of risks, and a recontextualization of the use of GMOs. At any rate, deliberative democracy is not a magic bullet for the epistemic and political crisis that underlies food crisis; instead, it points at a paradigm change towards an experimental democratic polity in which the instances of representation of the public and publics are multiplied.

    Una sociología política de la alimentación debe analizar los procesos a través de los cuales se alcanzan las decisiones de regulación y control alimentario y examinar el potencial de sus alternativas. Se describen aquí cinco experimentos democráticos en los que se ha empleado uno de los dispositivos deliberativos más prometedores en condiciones de alta complejidad cognitiva, los llamados jurados ciudadanos, con la participación de campesinos hindúes y brasileños y consumidores británicos, y centrados en los Organismos Genéticamente Modificados. Estos procesos, caracterizados por el acceso de los miembros del jurado a testigos expertos presentados por los distintos participantes en la controversia, muestran la enorme capacidad de los ciudadanos "de a pie" para articular el análisis de un problema complejo, reevaluar sus riesgos y recontextualizar el uso de los OGM. En todo caso, la democracia deliberativa no es

  7. Estudo Comparativo dos Resultados Maternos e Perinatais entre Pacientes com Diabetes Pré-gestacional Tipo I e Tipo II Comparative Study of Maternal and Perinatal Outcomes among Patients with Pregestational Type I and Type II Diabetes

    Micheline Monte de Carvalho

    2000-06-01

    Full Text Available Objetivos: avaliar a evolução da gestação, controle metabólico e resultados perinatais de pacientes diabéticas pré-gestacionais e fazer um estudo comparativo entre os resultados de pacientes com diabetes insulino-dependente e não-insulino-dependente. Métodos: análise retrospectiva de prontuários de 57 pacientes com diagnóstico de diabetes pré-gestacional que iniciaram pré-natal no Serviço de Medicina Materno-Fetal da Maternidade-Escola Assis Chateaubriand da Universidade Federal do Ceará, no período de janeiro 1995 a dezembro de 1998. As 57 grávidas incluídas no estudo foram divididas em dois grupos: grupo I, composto de 28 pacientes portadoras de diabetes insulino-dependente (tipo I, e grupo II, com 29 gestantes com diabetes não-insulino-dependente (tipo II controladas com dieta ou com hipoglicemiante oral antes da gestação. Resultados: não houve diferença estatisticamente significante entre os dois grupos em relação à necessidade de internamento para controle glicêmico (39,2% x 27,5% e complicações maternas, tais como: hipertensão arterial crônica (14,2% x 27,5%, doença hipertensiva específica da gravidez (14,2% x 17,2%, amniorrexe prematura (3,5% x 10,3%, infecção do trato urinário (10,7% x 6,8% e trabalho de parto prematuro (3,5% x 6,8%. Foi observado, porém, maior número de episódios de hipoglicemia materna entre as pacientes insulino-dependentes (35,7% x 3,4%. Os resultados perinatais foram semelhantes. Observamos elevados índices de malformações e morbimortalidade perinatal. Conclusão: não houve diferença na incidência de intercorrências clínicas e obstétricas entre as pacientes insulino-dependentes e não-insulino-dependentes, excluindo-se hipoglicemia materna.Purpose: to evaluate the evolution of gestation, metabolic control and perinatal outcome of pregestational diabetic patients and to perform a comparative study of the results of patients with insulin-dependent diabetes (type I and

  8. Estudo do perfil hemodinâmico da artéria oftálmica em gestantes com diabetes mellitus gestacional Study of ophthalmic artery hemodynamic pattern in pregnant women with gestational diabetes mellitus

    Gizeli de Fátima Ribeiro dos Anjos

    2012-10-01

    Full Text Available OBJETIVOS: Avaliar os padrões hemodinâmicos da artéria oftálmica, por meio da doplervelocimetria, em portadoras de diabetes mellitus gestacional (DMG, e comparar os achados com os obtidos em gestantes normais. MÉTODOS: Estudo prospectivo caso-controle que analisou os índices doplervelocimétricos das artérias oftálmicas. Foram constituídos dois grupos: um com 40 gestantes com diagnóstico de DMG e o outro por 40 gestantes normais. Foram incluídas gestantes com DMG segundo critérios da American Diabetes Association - 2012, com gravidez de 27 semanas até o termo, e excluídas gestantes hipertensas, em uso de drogas vasoativas ou com diagnóstico prévio de diabetes. O estudo foi realizado em um olho com transdutor linear de 10 MHz Sonoace 8000 Live Medison ®. As variáveis analisadas foram: índice de pulsatilidade (IP, índice de resistência (IR, razão entre picos de velocidade (RPV, pico de velocidade sistólica (PVS e velocidade diastólica final (VDF. Para análise de normalidade das amostras foi empregado o teste de Lillefors, e os testes t de Student e Mann-Whitney, para comparação entre as médias e medianas conforme normalidade dos dados, e adotado nível de significância de 95%. RESULTADOS: As medianas e médias com desvio padrão das variáveis doplervelocimétricas da artéria oftálmica dos grupos de DMG e gestantes normais foram, respectivamente: IP=1,7±0,6 e 1,6±0,4 (p=0,7; IR=0,7 e 0,7 (p=0,9; RPV=0,5±0,1 e 0,5±0,1 (p=0,1; PVS=33,6 e 31,9 cm/seg (p=0,7; VDF=6,3 e 7,9 cm/seg (p=0,4. Não houve diferença significante entre as médias e medianas das variáveis analisadas entre os dois grupos de gestantes. CONCLUSÕES: Os padrões hemodinâmicos das artérias oftálmicas permaneceram inalterados no grupo de gestantes com DMG em relação ao grupo de gestantes normais, sugerindo que o tempo de exposição à doença durante a gestação é curto para causar vasculopatias importantes no território materno central

  9. Tools for Designing, Evaluating, and Certifying NextGen Technologies and Procedures: Automation Roles and Responsibilities

    Kanki, Barbara G.

    2011-01-01

    Barbara Kanki from NASA Ames Research Center will discuss research that focuses on the collaborations between pilots, air traffic controllers and dispatchers that will change in NextGen systems as automation increases and roles and responsibilities change. The approach taken by this NASA Ames team is to build a collaborative systems assessment template (CSAT) based on detailed task descriptions within each system to establish a baseline of the current operations. The collaborative content and context are delineated through the review of regulatory and advisory materials, policies, procedures and documented practices as augmented by field observations and interviews. The CSAT is developed to aid the assessment of key human factors and performance tradeoffs that result from considering different collaborative arrangements under NextGen system changes. In theory, the CSAT product may be applied to any NextGen application (such as Trajectory Based Operations) with specified ground and aircraft capabilities.

  10. O futuro da epidemiologia genética de características complexas

    Feitosa Mary F.

    2002-01-01

    Full Text Available A epidemiologia genética evoluiu de um enfoque em estudos sobre doenças mendelianas raras para a análise genética de características complexas. Com o advento de informações sobre a completa seqüência de genes ao longo do genoma humano e de outros organismos, o interesse da epidemiologia genética em desvendar a natureza dos fatores que influenciam essas características se tornou primordial. São apresentados os principais métodos empregados no estudo de doenças complexas bem como suas principais vantagens e desvantagens. Discute-se a importância na determinação da amostra e o uso de fenótipos e marcadores genéticos apropriados. Como exemplo das estratégias citadas tomamos o estudo de índice de massa corporal (BMI para ilustrar um fator genético principal localizado no cromossomo 7. Em uma discussão sobre tendências no estudo de ligação, embora reconhecendo que famílias e genealogias continuarão sendo o foco principal das amostras, discute-se alguns novos e eficientes tipos de amostragem (como por exemplo, controles não-relacionados em que amostras de conjunto de DNA serão universalmente empregadas. O reconhecimento da heterogeneidade genética entre estudos e sua interpretação será uma das mais importantes características no futuro das análises de características complexas.

  11. Coeficiente de repetibilidade e parâmetros genéticos em capim-elefante

    Marcelo Cavalcante

    2012-04-01

    Full Text Available O objetivo deste trabalho foi determinar os coeficientes de repetibilidade de caracteres morfofisiológicos em genótipos de capim-elefante (Pennisetum spp., a partir de dados obtidos durante seis ciclos de avaliação. Foram estimados: número mínimo de medições e parâmetros genéticos. Utilizou-se o delineamento experimental de blocos ao acaso, em arranjo de parcelas subdivididas, com quatro níveis de N (controle, 30, 60 e 90 kg ha‑1 por corte e 16 genótipos de Pennisetum (11 híbridos interespecíficos e cinco cultivares. Os ciclos consistiram de avaliações em 2010 (21/4, 19/7 e 28/9 e 2011 (6/1, 7/4 e 3/8. Os coeficientes de repetibilidade foram de média‑alta magnitude para todas as variáveis, o que indica que houve regularidade entre as medidas repetidas. Para as variáveis massa de forragem, altura da planta, comprimento e largura da folha, diâmetro do colmo, clorose e índice de área foliar, três ciclos de avaliação são suficientes para obter R² de 90%, pela análise de componentes principais. Para o comprimento do entrenó, o mínimo de sete avaliações é necessário para predizer o valor real dos genótipos. Os parâmetros genéticos das variáveis massa de forragem, comprimento e largura da folha, diâmetro do colmo e clorose foliar são de alta magnitude, o que favorece a seleção de genótipos superiores de Pennisetum.

  12. Loci asociados con enfermedades genéticas y calidad de carne en bovinos Charolais Mexicanos

    Ana María Sifuentes Rincón

    2015-01-01

    Full Text Available Se determinaron las frecuencias alélicas y genotípicas de ocho marcadores localizados en los genes calpaína (CAPN, 4 751 y 316, calpastatina (CASTT1 y tiroglobulina (TG5, asociados a calidad de carne, y en los genes, m iost atina (MSTN, Q204X, arginino succinato sintasa (ASS, monofosfato sintasa (UMPS y miofosforilasa (PYGM, asocia dos a enfermedade s genéticas de ganado bovino. Se muestrearon 493 animales Charolais de registro de dos hatos ubicado s en Sonora (n=157 y tres en Nuevo León (n=336. No se encontraron portadores de los alelos T-ASS y T-UM PS, pero sí portadores del alelo Q204X del gen MSTN en frecuencias de  1 % en las poblaciones de Sonora y de 8.6 a 14.4 % en las de Nuevo León. Además, se identificaron portadores del marcador del gen PYGM, en frecuencias del 6.5 y de 1.0 % para un hato de Sonora y otro de Nuevo León, respectivamente. El análisis de diferenciación génica p areado entre las poblaciones y con los cuatro loci mostró que hay diferencias altamente significativas dentro de pobl aciones del noroeste ( P <0.0001 y entre éstas y las del noreste ( P <0.001, la cual es explicada principalmente por los loci CAPN-316 y TG5. De acuerdo a los resultados obtenidos se recomienda el monitoreo del marcador del gen PYGM y del ale lo Q204X del gen MSTN, así como también implementar estrategias para confirmar la utilidad de los marcadores asociado s a calidad y productividad como herramienta para complementar los progra mas de mejoramiento genético.

  13. SIPSMetGen: It's Not Just For Aircraft Data and ECS Anymore.

    Schwab, M.

    2015-12-01

    The SIPSMetGen utility, developed for the NASA EOSDIS project, under the EED contract, simplified the creation of file level metadata for the ECS System. The utility has been enhanced for ease of use, efficiency, speed and increased flexibility. The SIPSMetGen utility was originally created as a means of generating file level spatial metadata for Operation IceBridge. The first version created only ODL metadata, specific for ingest into ECS. The core strength of the utility was, and continues to be, its ability to take complex shapes and patterns of data collection point clouds from aircraft flights and simplify them to a relatively simple concave hull geo-polygon. It has been found to be a useful and easy to use tool for creating file level metadata for many other missions, both aircraft and satellite. While the original version was useful it had its limitations. In 2014 Raytheon was tasked to make enhancements to SIPSMetGen, this resulted a new version of SIPSMetGen which can create ISO Compliant XML metadata; provides optimization and streamlining of the algorithm for creating the spatial metadata; a quicker runtime with more consistent results; a utility that can be configured to run multi-threaded on systems with multiple processors. The utility comes with a java based graphical user interface to aid in configuration and running of the utility. The enhanced SIPSMetGen allows more diverse data sets to be archived with file level metadata. The advantage of archiving data with file level metadata is that it makes it easier for data users, and scientists to find relevant data. File level metadata unlocks the power of existing archives and metadata repositories such as ECS and CMR and search and discovery utilities like Reverb and Earth Data Search. Current missions now using SIPSMetGen include: Aquarius, Measures, ARISE, and Nimbus.

  14. Alimentos Transgénicos : Organismos Genéticamente Modificados (OGM)

    Martín López, Jimena

    2016-01-01

    Los alimentos transgénicos son aquellos que proceden de un organismo modificado genéticamente. La introducción de este tipo de productos en nuestra dieta es un tema que genera controversia ya que en muchos casos no se conoce con exactitud los efectos que esta modificación puede tener en el ser humano. A lo largo de las páginas de este trabajo se explica la historia de la aparición de estos organismos gracias a procedimientos de ingeniería genética, en los que se modifican fragmentos de su ADN...

  15. Prevalencia de bacterias Gram negativas portadoras del gen blaKPC en hospitales de Colombia

    Robinson Pacheco

    2014-04-01

    Full Text Available Introducción. Las enzimas carbapenemasas de tipo KPC tienen gran capacidad de diseminación, son causantes de epidemias y se asocian a mayor mortalidad y estancia hospitalaria. En Colombia se han venido reportando cada vez más desde 2007, pero se desconoce la prevalencia hospitalaria. Objetivo. Estimar la prevalencia hospitalaria del gen blaKPC. Materiales y métodos. Se evaluó la presencia del gen blaKPC y su ‘clonalidad’ en aislamientos de enterobacterias y Pseudomonas aeruginosa de pacientes hospitalizados. Resultados. De los 424 aislamientos evaluados durante el periodo de estudio, 273 cumplieron con criterios de elegibilidad, 31,1 % fue positivo para el gen blaKPC y, al ajustar por ‘clonalidad’, la positividad fue de 12,8 %. El gen blaKPC se encontró con mayor frecuencia en Klebsiella pneumoniae seguido de P. aeruginosa y otras enterobacterias. A pesar de que la unidad de cuidados intensivos aportó el mayor número de aislamientos, no se encontró un patrón más prevalente del gen blaKPC en las ellas que en las otras salas. El aparato respiratorio fue el sitio anatómico de origen con la mayor prevalencia. No se presentó estacionalidad en la frecuencia de los aislamientos portadores del gen blaKPC. Conclusión. Este estudio reveló la alta prevalencia del gen blaKPC en diferentes microorganismos aislados en varias instituciones hospitalarias del país. La extraordinaria capacidad de propagación del gen blaKPC, las dificultades del diagnóstico y la limitada disponibilidad de antibióticos plantean la apremiante necesidad de fortalecer los sistemas de vigilancia epidemiológica y ajustar oportunamente las políticas institucionales de uso racional de antibióticos con el fin de contener su diseminación a otras instituciones de salud del país.

  16. Prevalencia de bacterias Gram negativas portadoras del gen blaKPC en hospitales de Colombia

    Robinson Pacheco; Lyda Osorio; Adriana M. Correa; Maria Virginia Villegas

    2014-01-01

    Introducción. Las enzimas carbapenemasas de tipo KPC tienen gran capacidad de diseminación, son causantes de epidemias y se asocian a mayor mortalidad y estancia hospitalaria. En Colombia se han venido reportando cada vez más desde 2007, pero se desconoce la prevalencia hospitalaria. Objetivo. Estimar la prevalencia hospitalaria del gen blaKPC. Materiales y métodos. Se evaluó la presencia del gen blaKPC y su ‘clonalidad’ en aislamientos de enterobacterias y Pseudomonas aeruginosa de p...

  17. Microsatélites, distancias genéticas y estructura de poblaciones nativas sudamericanas

    Demarchi, Darío Alfredo

    2009-01-01

    Full Text Available En este trabajo se investigaron las relaciones genéticas entre 17 poblaciones nativas sudamericanas en relación a 15 microsatélites (STRs autosómicos, utilizando 3 distancias genéticas- DST, DAy (δu2-que se ajustan a diferentes postulados teóricos. A través de diferentes técnicas de análisis (escalamiento multidimensional, correlación y correlación parcial de matrices se puso a prueba si las distancias genéticas reflejaban las relaciones interpoblacionales esperadas a partir de la distribución geográfica o de relaciones lingüísticas entre las poblaciones. Además, se estimó en que grado las distintas medidas de distancias genéticas eran influenciadas por la diversidad (He de cada población. Los mapas genéticos muestran, principalmente para DST y DA, que las poblaciones aisladas y con bajo tamaño efectivo (Ne aparecen como outliers, mientras que las poblaciones con alto Ne y mayor flujo génico ocupan una posición central a bajos valores de distancia unas de otras y sin un patrón definido de agrupamiento. La falta de asociación entre distancias genéticas y lingüísticas o geográficas y por otra parte, la alta correlación negativa entre He y distancias génicas promedio por población confiman ese patrón, demostrando que la mayor parte de la variación interpoblacional puede ser explicada en función del grado de diversidad intrapoblacional. Es decir, las distancias genéticas no reflejan relaciones filogenéticas, lingüísticas o geográficas, sino más bien eventos demográficos recientes tales como cuellos de botella genético, efecto fundador o migración externa masiva. Este hecho puede ser comprobado por medio de otra metodología analítica, el modelo de Harpending y Ward.

  18. Description of a new genus, Galgoria gen. nov. (Hemiptera: Cicadidae: Cicadinae: Leptopsaltriini: Leptopsaltriina).

    Lee, Young June

    2016-05-10

    A new cicada genus, Galgoria gen. nov., is described with Tanna herzbergi Schmidt, 1932 (from southern China) as its type species, which is placed in the subtribe Leptopsaltriina Moulton, 1923 of the tribe Leptopsaltriini Moulton, 1923 in the subfamily Cicadinae Latreille, 1802 (Hemiptera: Cicadidae). Tanna herzbergi Schmidt, 1932 is transferred from Tanna Distant, 1905 to Galgoria gen. nov. to become Galgoria herzbergi (Schmidt, 1932) comb. nov. Tanna apicalis Chen, 1940 syn. nov. and Tanna pseudocalis Lei & Chou, 1997 syn. nov. are synonymized here with Galgoria herzbergi (Schmidt, 1932) comb. nov.

  19. LEPINOCONUS CHIOCCHINII GEN. N., N. SP., A CONICAL AGGLUTINATED FORAMINIFERA FROM THE UPPER CRETACEOUS OF ITALY

    ERZIKA CRUZ-ABAD

    2017-04-01

    Full Text Available A new conical agglutinated foraminifer, Lepinoconus chiocchinii gen n., n. sp. from the lower Campanian shallow-water platform deposits of the Lepini Mountains (central Apennines, Italy, is described. It has a pseudo-keriothecal wall structure, uniserial arrangement of the adult chambers and multiple apertures. The exoskeleton is constituted by beams (main and intercalary continuous from one chamber to the next, while the endoskeleton bears pillars. The new taxon is included in the Coskinolinidae family. Lepinoconus chiocchinii gen. n., n. sp. is known from southern Italy, Greece and Albania.

  20. Reporte de familias con neurofibromatosis y otras enfermedades genéticas

    Orraca Castillo, Miladys; Licourt Otero, Deysi; Sánchez Álvarez de La Campa, Ana Isabel

    2011-01-01

    La neurofibromatosis tipo 1, es una enfermedad genética que primariamente afecta el desarrollo y crecimiento celular del sistema nervioso, clínicamente se caracteriza por máculas café con leche, neurofibromas, pecas en regiones no expuestas al sol, nódulos de Lisch, lesiones óseas y glioma óptico. En el presente trabajo se describen dos familias, en las cuales algunos individuos padecen esta enfermedad y otros miembros de la misma familia muestran una diferente enfermedad genética. La coexist...

  1. InGen Inconsistencies: The "Dinosaurs" Of Jurassic Park May Not Be What The Corporation Claims

    Haupt, R. J.; Traer, M. M.

    2017-12-01

    InGen has made and continues to make dubious claims about proprietary technology developed to clone non-avian dinosaurs for exhibition within their "Jurassic Park." Notably, there are several inconsistencies between their claims for how their technology works and what has been observed within the park. Here we investigate several of these inconsistencies in the hopes that it will push for increased transparency between corporations and academia. First, we highlight a disconnect between supposedly Jurassic amber used for dinosaur DNA extraction and the overwhelming presence of Late Cretaceous dinosaurs within the park. Further, InGen's mining operations only publicly operate in Jurassic-aged formations of the Dominican Republic, which clashes with the presence of Velociraptor and Gallimimus, known only from Mongolia. Second, the park contains seemingly full-grown adult specimens despite InGen's claims that they first successfully cloned a prehistoric animal in 1984, though there is no publicly available information as to what animal this was. That the park was nearly ready to open by 1993 precludes the presence of fully mature dinosaurs and suggests that InGen might be misrepresenting their technologies. Third, we must point out that fossil DNA denatures to the point of uselessness within thousands, not millions, of years. Additionally, the use of anuran DNA to fill in gaps from fossil dinosaurian DNA is a dubious choice given that more closely related organisms are available. Either there is an unexplained reason for this choice, or little attention has been paid to dinosaurian phylogeny by InGen geneticists. Finally, rumors of a secret InGen project to produce a dinosaur not currently known to paleontologists suggests one of two things: they were able to find DNA from a dinosaur previously unknown in the fossil record, which is highly plausible if their techniques are valid, or that InGen is able to artificially manipulate DNA to a degree far beyond what other

  2. Aspectos genéticos y neuroendocrinos en el trastorno del espectro autista

    Oviedo, Norma; Manuel-Apolinar, Leticia; de la Chesnaye, Elsa; Guerra-Araiza, Christian

    2015-01-01

    El autismo, hoy en día definido como trastornos del espectro autista, fue descrito inicialmente en 1943. Se caracteriza por alteraciones en la comunicación, la interacción social y un espectro restringido de intereses del paciente. Generalmente se identifica en etapas tempranas del desarrollo a partir de los 18 meses de edad. Actualmente el autismo se considera un desorden neurológico con un espectro que abarca diferentes grados que se asocian con factores genéticos, no genéticos y del medio ...

  3. Melostelis gen. nov., espécies novas e notas complementares sobre Anthidiini (Hymenoptera, Apidae

    Danúncia Urban

    2011-06-01

    Full Text Available Melostelis gen. nov., espécies novas e notas complementares sobre Anthidiini (Hymenoptera, Apidae. Melostelis gen. nov. é proposto para um novo Anthidiini cleptoparasita. São descritas e ilustradas duas espécies novas: Melostelis amazonensis sp. nov. de Manaus, Amazonas e Larocanthidium chacoense sp. nov. de Porto Murtinho, Mato Grosso do Sul. São dados a conhecer os machos de Epanthidium bolivianum Urban, 1995 e Epanthidium araranguense Urban, 2006 e, registrados pela primeira vez no Brasil, na sub-região do chaco, Ketianthidium zanolae Urban, 2000 e Epanthidium bolivianum.

  4. Clasificador genérico de objetos en imágenes AVHRR

    Pascual Ramírez, Fermín; Paz Pellat, Fernando; Martínez Menes, Mario; Palacios Vélez, Enrique; Mejía Sáenz, Enrique; Rubio Granados, Erasmo

    2010-01-01

    El presente artículo describe un algoritmo para llevar a cabo una clasificación genérica de objetos utilizando imágenes del sensor advanced very high resolution radiometer (AVHRR), basado en la firma espectral de los objetos genéricos (suelo, mezcla suelo-vegetación, cuerpos de agua, nubes, etc.). Debido a las particularidades de las bandas disponibles en el sensor AVHRR, se presenta un algoritmo específico utilizando la banda 3a (B3a) y otro utilizando la banda 3b (B3b) de este sensor. Los a...

  5. Inventering av Suldalslågen. Produksjonspotensial for sjøvandrende laksefisk

    Foldvik, Anders; Pettersen, Oskar

    2017-01-01

    Foldvik, A. & Pettersen, O. 2017. Inventering av Suldalslågen. Produksjonspotensial for sjøvandrende laksefisk. - NINA Kortrapport 75, 18 s. Reguleringen av Suldalslågen til kraftproduksjon har hatt negative effekter for habitat for laksefisk, blant annet i form av sedimentering og begroing av substratet. Disse prosessene har blitt forsøkt motvirket ved å ha en serie med spyleflommer på over 200 m3/s om høsten. På oppdrag fra Statkraft inverterte NINA oppvekst- og gyteforhold for laks i Su...

  6. História da genética no Brasil: um olhar a partir do Museu da Genética da Universidade Federal do Rio Grande do Sul

    Vanderlei Sebastiao de Souza

    2013-06-01

    Full Text Available Aborda o contexto de criação do Museu da Genética, em 2011 no Departamento de Genética na Universidade Federal do Rio Grande do Sul, em Porto Alegre, e apresenta sua estrutura e conteúdo. Argumenta-se que os materiais disponibilizados no Museu da Genética constituem uma rica fonte para pesquisas sobre a história da genética no Brasil (e da genética de populações humanas em particular a partir da segunda metade do século XX, tema ainda pouco investigado, apesar da proeminência dessa área do conhecimento no Brasil.

  7. Reflexo da interação genótipo x ambiente sobre o melhoramento genético de feijão

    Pereira, Thayse Cristine Vieira; Schmit, Rodolfo; Haveroth, Eduardo José; Melo, Rita Carolina de; Coimbra, Jefferson Luís Meirelles; Guidolin, Altamir Frederico; Backes, Rogério Luiz

    2015-01-01

    RESUMO: O objetivo foi avaliar os componentes da variância fenotípica e estimar a influência da interação genótipo*ambiente no rendimento de grãos em feijão. Os componentes da variância fenotípica foram estimados pelo método da máxima verossimilhança restrita e do melhor preditor linear não viesado (REML/BLUP), juntamente com o espaço de inferência específico. As avaliações foram realizadas nas safras agrícolas de 2006/07 a 2011/12 no município de Lages/SC. Durante o período, 104 genótipos fo...

  8. Allocation of Laophonte trispinosa Sewell to Xanthilaophonte gen. nov. and the description of X. carcinicola spec. nov. (Harpacticoida: Laophontidae)

    Fiers, F.

    1991-01-01

    Laophonte trispinosa Sewell is reported here from various localities in the Indian and the West Pacific Ocean, and is allocated to the herein erected genus Xanthilaophonte gen. nov. A second species, X. carcinicola spec. nov. is described from Indon »sia. The genus Xanthilaophonte gen. nov. is most

  9. 75 FR 1052 - Terra-Gen Dixie Valley, LLC; TGP Dixie Development Company, LLC; New York Canyon, LLC; Notice of...

    2010-01-08

    ... DEPARTMENT OF ENERGY Federal Energy Regulatory Commission [Docket No. EL10-29-000] Terra-Gen Dixie Valley, LLC; TGP Dixie Development Company, LLC; New York Canyon, LLC; Notice of Filing December 30, 2009. Take notice that on December 24, 2009, Terra-Gen Dixie Valley, LLC, TGP Dixie Development Company, LLC...

  10. Using the kaleidoscope career model to examine generational differences in work attitudes between Gen X and Gen Y– within Malaysia Perspective

    Koay, Chee Hua Alwyn

    2016-01-01

    Generation Y (also known as Yers) has started to take a prominent position in today’s workforce. With this new position comes a new territory of research. The research about this generation has increased over the past years, with most of this research focusing on characteristics of GenY (Sheahan (2005), Martin (2005), Armour (2005)) and the differences between generations (Smola and Sutton (2002), Cennamo and Gardner (2008)). Noticeably, there has been many literature and news (Hoi J., 2013) ...

  11. Low maternal folate concentrations and maternal MTHFR C677T polymorphism are associated with an increased risk for neural tube defects in offspring: a case-control study among Pakistani case and control mothers.

    Nauman, Nuzhat; Jalali, Samina; Shami, Sajjad; Rafiq, Shireen; Große, Greta; Hilger, Alina C; Zhang, Rhong; Mansoor, Saira; Ludwig, Michael; Reutter, Heiko

    2018-01-01

    There is considerable evidence that periconceptional maternal folate deficiency and coding variants in maternal genes coding for critical enzymes in the folate pathway are associated with neural tube defects (NTDs) in offspring. In a case-control study we investigated C677T polymorphism in the 5,10- methylenetetrahydrofolate reductase (MTHFR) gene in case and control mothers of Pakistani origin, and compared these with the respective maternal folate concentrations measured at the time of delivery. A case-control study was conducted among 109 case and 100 control mothers identified through the Holy Family Hospital Rawalpindi, Quaid-i-Azam University, Islamabad, Pakistan. Red blood cell (RBC) and serum folate concentrations and MTHFRC677T polymorphism were compared between case and control mothers. Mean RBC folate and serum folate concentrations were significantly lower in cases compared with control mothers (pcases compared with control mothers (CC vs TT pcases compared with control mothers (C vs T pCase mothers with 677CT or 677TT genotypes had significantly lower serum (pstudy provides further evidence that maternal folate deficiency and MTHFRC677T polymorphism might be associated with an increased risk for NTDs in offspring. Our results are limited by the fact that maternal folate concentrations were not obtained during the periconceptional period, but at delivery. Further analyses, including maternal folate levels during the periconceptional period, are warranted.

  12. Discusión: Explicaciones genéticas y psicológicas de la esquizofrenia. Bases genéticas de la esquizofrenia: "Nurture vrs Nature

    Henriette Raventós-Vorst

    2003-01-01

    Full Text Available El presente artículo revisa la evidencia científica que muestra la heredabilidad de la esquizofrenia, su forma de herencia compleja y la posible heterogeneidad genética y ambiental. Se presentan las regiones cromosómicas que han sido ligadas a la enfermedad y algunos de los genes candidatos. El objetivo es presentar los resultados más importantes en el campo de la investigación genética de la enfermedad. Aunque se acepta que factores ambientales deben estar presentes en la etiopatogenia de la enfermedad, no se profundiza en ellos. Finalmente, se comenta el modelo lamarquiano sugerido por el Prof.. Bolaños. El fin es transmitir que en la actualidad no hay contradicción entre el modelo biologista o psicológico que explicaban esta enfermedad. La concepción moderna une ambos modelos: se considera una enfermedad del neurodesarrollo en la que participan factores genéticos, factores epigenéticos y noxas ambientales, incluyendo los factores psicosociales.

  13. The IceCube Neutrino Observatory - Contributions to ICRC 2017 Part VI: IceCube-Gen2, the Next Generation Neutrino Observatory

    Collaboration, IceCube-Gen2; :; Aartsen, M. G.; Ackermann, M.; Adams, J.; Aguilar, J. A.; Ahlers, M.; Ahrens, M.; Samarai, I. Al; Altmann, D.; Andeen, K.; Anderson, T.; Ansseau, I.; Anton, G.; Argüelles, C.

    2017-01-01

    Papers on research & development towards IceCube-Gen2, the next generation neutrino observatory at South Pole, submitted to the 35th International Cosmic Ray Conference (ICRC 2017, Busan, South Korea) by the IceCube-Gen2 Collaboration.

  14. PZT piezoelectric films on glass for Gen-X imaging

    Wilke, Rudeger H. T.; Trolier-McKinstry, Susan; Reid, Paul B.; Schwartz, Daniel A.

    2010-09-01

    The proposed adaptive optics system for the Gen-X telescope uses piezoelectric lead zirconate titanate (PZT) films deposited on flexible glass substrates. The low softening transition of the glass substrates imposes several processing challenges that require the development of new approaches to deposit high quality PZT thin films. Synthesis and optimization of chemical solution deposited 1 μm thick films of PbZr0.52Ti0.48O3 on small area (1 in2) and large area (16 in2) Pt/Ti/glass substrates has been performed. In order to avoid warping of the glass at temperatures typically used to crystallize PZT films ({700°C), a lower temperature, two-step crystallization process was employed. An {80 nm thick seed layer of PbZr0.30Ti0.70O3 was deposited to promote the growth of the perovskite phase. After the deposition of the seed layer, the films were annealed in a rapid thermal annealing (RTA) furnace at 550°C for 3 minutes to nucleate the perovskite phase. This was followed by isothermal annealing at 550°C for 1 hour to complete crystallization. For the subsequent PbZr0.52Ti0.48O3 layers, the same RTA protocol was performed, with the isothermal crystallization implemented following the deposition of three PbZr0.52Ti0.48O3 spin-coated layers. Over the frequency range of 1 kHz to 100 kHz, films exhibit relative permittivity values near 800 with loss tangents below 0.07. Hysteresis loops show low levels of imprint with coercive fields of 40-50 kV/cm in the forward direction and 50-70 kV/cm in the reverse direction. The remanent polarization varied from 25-35 μC/cm2 and e31,f values were approximately -5.0 C/m2. In scaling up the growth procedure to large area films, where warping becomes more pronounced due to the increased size of the substrate, the pyrolysis and crystallization conditions were performed in a box furnace to improve the temperature uniformity. By depositing films on both sides of the glass substrate, the tensile stresses are balanced, providing a

  15. O impacto da genética na asma infantil Impact of genetics in childhood asthma

    Leonardo A. Pinto

    2008-08-01

    Full Text Available OBJETIVO: Apresentar os resultados dos estudos mais importantes e recentes sobre a genética da asma. Estes dados devem auxiliar os clínicos gerais a compreender o impacto da genética sobre este distúrbio complexo e como os genes e polimorfismos influenciam a asma e a atopia. FONTES DOS DADOS: Os dados foram coletados do banco de dados MEDLINE. Os estudos de associação genética foram selecionados do Genetic Association Database, um repositório de estudos de associação genética de doenças e distúrbios complexos organizado pelo National Institutes of Health. SÍNTESE DOS DADOS: Considerando os dados de diversos importantes estudos de gêmeos sobre a genética da asma, a heritabilidade, que mensura a contribuição dos fatores genéticos para a variância da asma, pode ser estimada entre 0,48 e 0,79. Uma grande quantidade de estudos de associação genética tentou identificar genes de susceptibilidade à asma. Os resultados mais replicados nos estudos de associação genética envolvem as cinco regiões do genoma humano a seguir: 5q31-32, 6p21, 11q12-13, 16p11-12, e 20p13. Recentemente, outro gene de susceptibilidade à asma (ORMDL3, considerado determinante crítico para a asma infantil, foi identificado por um estudo genômico de associação. CONCLUSÕES: É possível estimar que a contribuição genética à asma varia entre 48 e 79%. Diversos loci parecem influenciar a susceptibilidade à asma. Os genes localizados no cromossomo 5q (ADRB2, IL13 e IL4 e o gene ORMDL3, no cromossomo 17, identificado recentemente, parecem ser determinantes para a asma infantil. O diagnóstico e a farmacogenética podem ser as primeiras implicações clínicas de estudos extensivos sobre a genética da asma.OBJECTIVE: To present the most important and recent results of studies on asthma genetics. These data may help general physicians understand the impact of genetics on this complex disorder and how genes and polymorphisms influence asthma and atopy

  16. The Development of the Genital Psoriasis Sexual Frequency Questionnaire (GenPs-SFQ) to Assess the Impact of Genital Psoriasis on Sexual Health.

    Gottlieb, Alice B; Kirby, Brian; Ryan, Caitriona; Naegeli, April N; Burge, Russel; Potts Bleakman, Alison; Anatchkova, Milena D; Cather, Jennifer

    2018-03-01

    Patient-reported outcome measures (PROs) exist for psoriasis but not genital psoriasis (GenPs). This cross-sectional, qualitative study in patients with moderate-to-severe GenPs was conducted to support development of a PRO for measuring the impact of GenPs on sexual activity and to establish content validity. The impacts of GenPs were identified in a literature review. Findings from the literature review were discussed with clinicians, and then patients with GenPs were interviewed. From the literature review, 52 articles, 44 abstracts, and 41 clinical trials met predefined search criteria. Of these, 11 concepts emerged as having theoretical support for use as measurable impacts of psoriasis symptoms on patients; these concepts included sexual functioning and general health-related quality of life (HRQoL). These concepts were confirmed and expanded upon by two clinicians who routinely care for patients with GenPs. Interviews were then conducted with GenPs patients (n = 20) to discuss the impact of GenPs on their HRQoL. Eighty percent of patients reported that GenPs impacted sexual frequency. The two-item GenPs Sexual Frequency Questionnaire (GenPs-SFQ) was developed to assess limitations on sexual activity frequency because of GenPs. Cognitive debriefing with an additional 50 patients with GenPs confirmed the utility and understandability of the GenPs-SFQ. The GenPs-SFQ may have utility in clinical trials involving GenPs patients and in routine clinical practice. Eli Lilly and Company. Plain language summary available for this article.

  17. Genética, performance física humana e doping genético: o senso comum versus a realidade científica

    Rodrigo Gonçalves Dias

    2011-02-01

    Full Text Available Atletas de elite são reconhecidos como fenômenos esportivos e o potencial para atingir níveis superiores de performance no esporte está parcialmente sob o controle de genes. A excelência atlética é essencialmente multifatorial e determinada por complexas interações entre fatores ambientais e genéticos. Existem aproximadamente 10 milhões de variantes genéticas dispersas por todo o genoma humano e uma parcela destas variantes têm demonstrado influenciar a responsividade ao treinamento físico. Os fenótipos de performance física humana parecem ser altamente poligênicos e alguns estudos têm comprovado a existência de raras combinações genotípicas em atletas. No entanto, os mecanismos pelos quais genes se interagem para amplificar a performance física são desconhecidos. O conhecimento sobre os genes que influenciam a treinabilidade somado ao potencial uso indevido dos avanços da terapia gênica, como a possível introdução de genes em células de atletas, fez surgir o termo doping genético, um novo e censurado método de amplificação da performance física, além dos limites fisiológicos. Aumentos na hipertrofia muscular esquelética e nos níveis de hematócrito estão sendo conseguidos através da manipulação da expressão de genes específicos, mas a grande parte das impressionáveis alterações foi obtida em experimentação com animais de laboratório. A compreensão dos resultados científicos envolvendo genética, performance física humana e doping genético é uma difícil tarefa. Com o propósito de evitar a contínua má interpretação e propagação de conceitos errôneos, esta revisão, intencionalmente, vem discutir as evidências científicas produzidas até o momento sobre o tema, permitindo a compreensão do atual "estado da arte"

  18. Genetic similarity between coriander genotypes using ISSR markers Similaridade genética entre genótipos de coentro por marcadores ISSR

    Roberto de A Melo

    2011-12-01

    Full Text Available With the development of new cultivars, a precise genetic characterization is essential for improvement programs or for cultivar registration and protection. Molecular markers have been complementing the traditional morphological and agronomic characterization techniques because they are virtually unlimited, cover the whole genome and are not environmentally influenced. Genetic characterization constitutes the basis for studies involving estimates of genetic similarity. Therefore, the objective of the present study was to evaluate the genetic similarity between ten coriander genotypes (nine cultivars and one line using ISSR markers. The cultivars used were: Americano, Asteca, Palmeira, Português, Santo, Supéria, Tabocas, Tapacurá, Verdão and the experimental line HTV-9299. The genetic similarity between the cultivars was estimated using 227 banded regions of ISSR molecular markers. The UBC 897 oligonucleotide generated the highest number of fragments (16, resulting in a higher polymorphism. The results indicate that the twenty-nine oligonucleotides chosen were satisfactory for detecting polymorphism. Based on the grouping analysis determined from the similarity data, there were two groups and two sub-groups. The calculated similarity for the genotypes varied from 52 to 75%. The lowest similarity was observed between Português and Verdão, at 52%. The highest similarity was found between Português and Palmeira, at 75%. The ISSR is efficient for identifying DNA polymorphism in coriander.Com o surgimento de novas cultivares, uma caracterização genética precisa é essencial, visando à utilização em programas de melhoramento ou para fins de registros e ou proteção de cultivares. Marcadores moleculares vêm complementando a caracterização morfológica e agronômica tradicional, uma vez que são virtualmente ilimitados, cobrem todo o genoma e não são influenciados pelo ambiente. A caracterização genética constitui a base para

  19. Variabilidad genética de la respuesta inflamatoria: I. Polimorfismo -511 C/T en el gen IL1β en diferentes subpoblaciones peruanas

    Óscar Acosta

    2012-07-01

    Full Text Available El polimorfismo -511 citosina/timina (-511 C/T en la región promotora del gen interleuquina 1 beta (IL1β estα implicado en la producciσn diferencial de la citoquina y por tanto puede estar asociado a la respuesta inmuno-inflamatoria en obesidad, dislipidemias, cardiopatías, cáncer, infecciones, y el tratamiento con nutrientes y fármacos. Objetivos: Establecer la distribución de frecuencias de los genotipos y alelos del polimorfismo -511 C/T del gen IL1β en diferentes subpoblaciones peruanas. Diseño: Estudio descriptivo, observacional, transversal. Instituciones: Centro de Investigación de Bioquímica y Nutrición e Instituto de Medicina Tropical D.A. Carrión, Facultad de Medicina, UNMSM y Centro de Genética y Biología Molecular, Facultad de Medicina, USMP, Lima, Perú. Participantes: Pobladores peruanos. Intervenciones: Extracción de ADN genómico a partir de muestras sanguíneas o epitelio bucal según metodología estándar, de 168 individuos de 9 grupos subpoblacionales: 23 mestizos de Lima, 33 amazónicos (20 de Pucallpa y 13 de Amazonas y 112 andinos (12 de Ancash, 10 de Cajamarca, 18 de Huarochirí-Lima, 25 de Puno-Taquile, 25 de Puno-Uros y 22 de Puno-Anapia. Análisis del polimorfismo -511 C/T mediante la técnica de PCR/RFLP, con primers específicos y digestión con la enzima de restricción AvaI, detectándose los fragmentos por electroforesis en geles de agarosa al 2% y tinción con bromuro de etidio. Principales medidas de resultados: Frecuencias genotípicas y alélicas del gen IL1β. Resultados: Se encontró las siguientes frecuencias genotípicas CC=0,024; CT=0,369 y TT=0,607, consistentes con el equilibrio de Hardy-Weinberg; y las frecuencias alélicas fueron alelo C=0,208 y aleloT= 0,792. La frecuencia del alelo T, considerado el mutante, fue muy alta en los Uros de Puno (0.940 y más baja en los mestizos de Lima (0.609. La comparación de las frecuencias genotípicas (TT versus CT+CC y alélicas (T versus C

  20. Optimal trading strategy for GenCo in LMP-based and bilateral ...

    GenCo) in multi-market environment including day-ahead spot and long term bilateral contract markets using self-organising hierarchical particle swarm optimisation with time-varying acceleration coefficients (SPSO-TVAC). The proposed trading ...

  1. Todos iguais, todos diferentes : a variabilidade genética humana.

    Lima, Manuela

    2010-01-01

    A secção Biologia é coordenada pelo Professor Universitário Armindo Rodrigues. O estudo da variabilidade genética humana revela informações cruciais que permitem, ao nível biomédico, avanços nos conhecimentos acerca de várias doenças.

  2. Saying Hello World with GrGen.NET - A Solution to the TTC 2011 Instructive Case

    Sebastian Buchwald

    2011-11-01

    Full Text Available We introduce the graph transformation tool GrGen.NET (www.grgen.net by solving the Hello World Case of the Transformation Tool Contest 2011 which consists of a collection of small transformation tasks; for each task a section is given explaining our implementation.

  3. pGenN, a Gene Normalization Tool for Plant Genes and Proteins in Scientific Literature

    Ding, Ruoyao; Arighi, Cecilia N.; Lee, Jung-Youn; Wu, Cathy H.; Vijay-Shanker, K.

    2015-01-01

    Background Automatically detecting gene/protein names in the literature and connecting them to databases records, also known as gene normalization, provides a means to structure the information buried in free-text literature. Gene normalization is critical for improving the coverage of annotation in the databases, and is an essential component of many text mining systems and database curation pipelines. Methods In this manuscript, we describe a gene normalization system specifically tailored for plant species, called pGenN (pivot-based Gene Normalization). The system consists of three steps: dictionary-based gene mention detection, species assignment, and intra species normalization. We have developed new heuristics to improve each of these phases. Results We evaluated the performance of pGenN on an in-house expertly annotated corpus consisting of 104 plant relevant abstracts. Our system achieved an F-value of 88.9% (Precision 90.9% and Recall 87.2%) on this corpus, outperforming state-of-art systems presented in BioCreative III. We have processed over 440,000 plant-related Medline abstracts using pGenN. The gene normalization results are stored in a local database for direct query from the pGenN web interface (proteininformationresource.org/pgenn/). The annotated literature corpus is also publicly available through the PIR text mining portal (proteininformationresource.org/iprolink/). PMID:26258475

  4. Baltileuctra gen. nov., a new genus of Leuctridae (Insecta: Plecoptera) in Baltic amber.

    Chen, Zhi-Teng

    2018-04-10

    A new genus and species of the stonefly family Leuctridae, Baltileuctra foraminis gen. et sp. nov., is described and illustrated based on a well-preserved male specimen from the Eocene Baltic amber. The new genus possesses typical characters of Leuctridae but has diagnostic characters of the thoracic sclerites and terminalia. The relationship between the new genus and other leuctrids is briefly discussed.

  5. NextGen Flight Deck Data Comm : Auxiliary Synthetic Speech Phase II

    2015-07-01

    Data Comma text-based controller-pilot communication systemis expected to yield several NextGen safety and efficiency benefits. With Data Comm, communication becomes a visual task, and may potentially increase head-down time on the flight deck ...

  6. Fachsprachlichkeit und Verständlichkeit in deutschen Verträgen

    Larsen, Aase Voldgaard

    2010-01-01

    In diesem Beitrag wird die Fachsprachlichkeit und Verständlichkeit in deutschen Verträgen thematisiert. Der Beitrag basiert auf einer Untersuchung, die im Rahmen meiner Dissertation durchgeführt wurde. Sie trägt den Titel „Faglighed og forståelighed i kontrakter. En undersøgelse af sproglige fors...

  7. Neocordana gen. nov.,the causal organism of Cordana leaf spot on banana

    Hernández-Restrepo, Margarita; Groenewald, Johannes Z.; Crous, Pedro W.

    2015-01-01

    Cordana leaf spot of banana is shown to be associated with several species of a new genus described here as Neocordana gen. nov. Furthermore, Neocordana belongs to Pyriculariaceae (Magnaporthales) rather than Cordanaceae where the type species of Cordana, C. pauciseptata resides. Neocordana is

  8. Pacaella massiliensis gen. nov., sp. nov., a new bacterial species isolated from the human gut

    S. Ndongo

    2017-03-01

    Full Text Available Herein, we report the main characteristics of a new species named Pacaella massiliensis gen. nov., sp. nov., strain Marseille-P2670T (CSUR P2670 that was isolated from the gut microbiota of a 45-year-old French patient.

  9. Gen Y Recruitment: Understanding Graduate Intentions to Join an Organisation Using the Theory of Planned Behaviour

    Warmerdam, Amanda; Lewis, Ioni; Banks, Tamara

    2015-01-01

    Purpose: Using the Theory of Planned Behaviour (TPB) framework, the purpose of this paper is to explore whether the standard TPB constructs explained variance in Generation Y (Gen Y) individuals' intentions to join their ideal organisation. Design/methodology/approach: A mixed methods approach was used featuring qualitative and quantitative…

  10. Crystal Structure of a Eukaryotic GEN1 Resolving Enzyme Bound to DNA

    Yijin Liu

    2015-12-01

    Full Text Available We present the crystal structure of the junction-resolving enzyme GEN1 bound to DNA at 2.5 Å resolution. The structure of the GEN1 protein reveals it to have an elaborated FEN-XPG family fold that is modified for its role in four-way junction resolution. The functional unit in the crystal is a monomer of active GEN1 bound to the product of resolution cleavage, with an extensive DNA binding interface for both helical arms. Within the crystal lattice, a GEN1 dimer interface juxtaposes two products, whereby they can be reconnected into a four-way junction, the structure of which agrees with that determined in solution. The reconnection requires some opening of the DNA structure at the center, in agreement with permanganate probing and 2-aminopurine fluorescence. The structure shows that a relaxation of the DNA structure accompanies cleavage, suggesting how second-strand cleavage is accelerated to ensure productive resolution of the junction.

  11. StateGEN/StateNET - A structured method to perform route comparisons

    Cashwell, J.W.; Erickson, C.M.

    1989-01-01

    StateGEN/StateNET is a modeling structure and routing algorithm designed expressly to address the needs of state and local governments to perform analyses of routing alternatives. StateGEN/StateNET is designed to permit the user to construct a network and assign attributes of interest to the network on a personal computer (PC). The completed network is then transferred via a modem to the TRANSNET system and the preferred route is determined based upon attribute weights assigned by the user. This modeling structure permits the state or local government to perform a routing analysis, such as that required by the US Department of Transportation (DOT) for Highway Route-Controlled Quantity shipments of radioactive materials, with a minimum of resources. StateGEN/StateNET provides a computerized version of the DOT guidelines or allows the user to structure their own network parameters. Sandia National Laboratories (SNL) is the Department of Energy (DOE) lead organization for transportation research and development. The DOE Office of Defense Programs has been the prime sponsor of development of models and associated databases used to analyze the impacts of the transportation of radioactive materials. The routing algorithms used in StateGEN/StateNET were based on the existing models on TRANSNET, a system which was developed to enable outside users to access analytical codes and associated data developed for the DOE

  12. Overview of NASA's Next Generation Air Transportation System (NextGen) Research

    Swenson, Harry N.

    2009-01-01

    This slide presentation is an overview of the research for the Next Generation Air Transportation System (NextGen). Included is a review of the current air transportation system and the challenges of air transportation research. Also included is a review of the current research highlights and significant accomplishments.

  13. GWAS in a box: statistical and visual analytics of structured associations via GenAMap.

    Eric P Xing

    Full Text Available With the continuous improvement in genotyping and molecular phenotyping technology and the decreasing typing cost, it is expected that in a few years, more and more clinical studies of complex diseases will recruit thousands of individuals for pan-omic genetic association analyses. Hence, there is a great need for algorithms and software tools that could scale up to the whole omic level, integrate different omic data, leverage rich structure information, and be easily accessible to non-technical users. We present GenAMap, an interactive analytics software platform that 1 automates the execution of principled machine learning methods that detect genome- and phenome-wide associations among genotypes, gene expression data, and clinical or other macroscopic traits, and 2 provides new visualization tools specifically designed to aid in the exploration of association mapping results. Algorithmically, GenAMap is based on a new paradigm for GWAS and PheWAS analysis, termed structured association mapping, which leverages various structures in the omic data. We demonstrate the function of GenAMap via a case study of the Brem and Kruglyak yeast dataset, and then apply it on a comprehensive eQTL analysis of the NIH heterogeneous stock mice dataset and report some interesting findings. GenAMap is available from http://sailing.cs.cmu.edu/genamap.

  14. GeoBoost: accelerating research involving the geospatial metadata of virus GenBank records.

    Tahsin, Tasnia; Weissenbacher, Davy; O'Connor, Karen; Magge, Arjun; Scotch, Matthew; Gonzalez-Hernandez, Graciela

    2018-05-01

    GeoBoost is a command-line software package developed to address sparse or incomplete metadata in GenBank sequence records that relate to the location of the infected host (LOIH) of viruses. Given a set of GenBank accession numbers corresponding to virus GenBank records, GeoBoost extracts, integrates and normalizes geographic information reflecting the LOIH of the viruses using integrated information from GenBank metadata and related full-text publications. In addition, to facilitate probabilistic geospatial modeling, GeoBoost assigns probability scores for each possible LOIH. Binaries and resources required for running GeoBoost are packed into a single zipped file and freely available for download at https://tinyurl.com/geoboost. A video tutorial is included to help users quickly and easily install and run the software. The software is implemented in Java 1.8, and supported on MS Windows and Linux platforms. gragon@upenn.edu. Supplementary data are available at Bioinformatics online.

  15. Riesgos sobre la salud de los alimentos modificados genéticamente: una revision bibliografica

    Roig José L. Domingo

    2000-01-01

    Full Text Available A lo largo de 1999, se ha venido intensificando el debate sobre la seguridad de los alimentos modificados genéticamente, una importante y compleja área de investigación científica, la cual demanda unos estándares rigurosos. Diversos grupos, incluyendo asociaciones de consumidores y Organizaciones no Gubernamentales (ONGs han sugerido que todos los alimentos modificados genéticamente deberían ser sometidos a estudios a largo plazo con animales antes de su aprobación para el consumo humano. El principal objetivo de la presente revisión ha sido conocer cual es el estado actual de la cuestión en lo referente a los potenciales efectos adversos sobre la salud de los alimentos modificados genéticamente. Dos bases de datos, Medline y Toxline, así como una serie de direcciones de internet, han sido empleadas para la obtención de bibliografía. Aunque son numerosos los comentarios, noticias generales y cartas al Editor aparecidos en prestigiosas revistas, los artículos referentes a estudios experimentales sobre la seguridad de los alimentos modificados genéticamente son, sorprendentemente, muy escasos. Si se han obtenido resultados procedentes de la evaluación toxicológica de estos alimentos, no han sido publicados en revistas científicas y, por lo tanto, no han podido ser debidamente juzgados o contrastados.

  16. StateGEN/StateNET--A structured method to perform route comparisons

    Cashwell, J.W.; Erickson, C.M.

    1989-01-01

    StateGEN/StateNET is a modelling structure and routing algorithm designed expressly to address the needs of state and local governments to perform analyses of routing alternatives. StateGEN/StateNET is designed to permit the user to construct a network and assign attributes of interest to the network on a personal computer (PC). The completed network is then transferred via a modem to the TRANSNET system (Cashwell, 1989) and the preferred route is determined based upon attribute weights assigned by the user. This modelling structure permits the state or local to perform a routing analysis, such as that required by the US Department of Transportation (DOT) for Highway Route-Controlled Quantity shipments of radioactive materials, with a minimum of resources. StateGEN/StateNET provides a computerized version of the DOT guidelines (Cashwell, 1989) or allows the user to structure their own network parameters. Sandia national Laboratories (SNL) is the Department of Energy's (DOE) lead organization for transportation research and development. The DOE Office of Defense Programs has been the prime sponsor of development of models and associated databases used to analyze the impacts of the transportation of radioactive materials. The routing algorithms used in StateGEN/StateNET were based on the existing models on TRANSNET, a system which was developed to enable outside users to access analytical codes and associated data developed for the DOE. 2 refs

  17. Targeted amplicon sequencing (TAS): a scalable next-gen approach to multilocus, multitaxa phylogenetics.

    Bybee, Seth M; Bracken-Grissom, Heather; Haynes, Benjamin D; Hermansen, Russell A; Byers, Robert L; Clement, Mark J; Udall, Joshua A; Wilcox, Edward R; Crandall, Keith A

    2011-01-01

    Next-gen sequencing technologies have revolutionized data collection in genetic studies and advanced genome biology to novel frontiers. However, to date, next-gen technologies have been used principally for whole genome sequencing and transcriptome sequencing. Yet many questions in population genetics and systematics rely on sequencing specific genes of known function or diversity levels. Here, we describe a targeted amplicon sequencing (TAS) approach capitalizing on next-gen capacity to sequence large numbers of targeted gene regions from a large number of samples. Our TAS approach is easily scalable, simple in execution, neither time-nor labor-intensive, relatively inexpensive, and can be applied to a broad diversity of organisms and/or genes. Our TAS approach includes a bioinformatic application, BarcodeCrucher, to take raw next-gen sequence reads and perform quality control checks and convert the data into FASTA format organized by gene and sample, ready for phylogenetic analyses. We demonstrate our approach by sequencing targeted genes of known phylogenetic utility to estimate a phylogeny for the Pancrustacea. We generated data from 44 taxa using 68 different 10-bp multiplexing identifiers. The overall quality of data produced was robust and was informative for phylogeny estimation. The potential for this method to produce copious amounts of data from a single 454 plate (e.g., 325 taxa for 24 loci) significantly reduces sequencing expenses incurred from traditional Sanger sequencing. We further discuss the advantages and disadvantages of this method, while offering suggestions to enhance the approach.

  18. Complicações obstétricas em gestações com feto portador de anomalia incompatível com a sobrevida neonatal Complicaciones obstétricas en gestaciones con feto portador de anomalía incompatible con la sobrevivencia neonatal Obstetric complications in pregnancies with fetal anomalies incompatible with neonatal survival

    Danila Cristina Paquier Sala

    2010-10-01

    Full Text Available OBJETIVO: Descrever as complicações obstétricas mais comuns encontradas nos períodos gestacional, parto e puerpério imediato de gestantes com fetos portadores de anomalias incompatíveis com a vida. MÉTODOS: Estudo descritivo, onde avaliou-se 78 prontuários de pacientes atendidas no pré-natal da Disciplina de Medicina Fetal da Universidade Federal de São Paulo que tiveram partos nessa mesma instituição, entre 2000 e 2006. RESULTADOS: As principais complicações obstétricas identificadas foram:variação do volume de líquido amniótico em 68%; abortamento, parto pré-termo e a gravidez prolongada estiveram presentes em 6,4%, 55,1% e 3,8% das gestações, respectivamente; óbito fetal intra-uterino em 17,9%; descolamento prematuro da placenta ocorreu em 6,4% e histerectomia em 2,6%. CONCLUSÃO: Estes resultados sugerem aumento de risco materno em gestações com fetos portadores de anomalias graves, fato que demonstra necessidade de avaliação especializada caso a caso.OBJETIVO: Describir las complicaciones obstétricas más comunes encontradas en los períodos de gestación, parto y puerperio inmediato de embarazadas con fetos portadores de anomalías incompatibles con la vida. MÉTODOS: Se trata de un estudio descriptivo, que evaluó 78 fichas médicas de pacientes atendidos en el prenatal de la Disciplina de Medicina Fetal de la Universidad Federal de Sao Paulo que tuvieron partos en esa misma institución, entre 2000 y 2006. RESULTADOS: Las principales complicaciones obstétricas identificadas fueron: variación del volumen de líquido amniótico en 68%; abortamiento, parto pre-término y embarazo prolongado estuvieron presentes en 6,4%, 55,1% y 3,8% de las gestaciones, respectivamente; muerte fetal intra-uterina en 17,9%; desprendimiento prematuro de la placenta ocurrió en 6,4% e histerectomía en 2,6%. CONCLUSIÓN: Éstos resultados sugieren un aumento del riesgo materno en gestaciones con fetos portadores de anomal

  19. Situação sociodemográfica e de saúde reprodutiva pré e pós-gestacional de adolescentes, Feira de Santana, Bahia, Brasil Pre- and post-gestational sociodemografic and reproductive characteristics of adolescent mothers in Feira de Santana, Bahia, Brazil

    Ana Lúcia C. B. Paraguassú

    2005-04-01

    Full Text Available O objetivo foi caracterizar mudanças sociodemográficas e de saúde reprodutiva pré e pós-gestacional de mulheres que foram mães na adolescência em Feira de Santana (BA. Estudo transversal, com amostragem aleatória por conglomerados de 438 mulheres de 10 a 24 e que freqüentaram as Unidades Básicas de Saúde do município, de agosto a dezembro de 2001. Na análise estatística, calculou-se média, desvio padrão e teste de Mcnemar. Constatou-se que no período pré-gestacional, 84,8% cursavam nível fundamental, sendo 41,8% de 17 a 19 anos, 66,0% eram solteiras, 62,6% moravam com suas famílias, 91,2% não procuraram o serviço de planejamento familiar e 60,9% não faziam uso de contraceptivos. No período pós-gestacional verificou-se, com resultados estatisticamente significantes, aumento das proporções do ensino médio (22,0%; da comunhão livre (60,6%; procura ao planejamento familiar (43,7%; uso de contraceptivos (70,8%; abandono escolar (27,6% e diminuição do uso de condom (19%; 44,5% relataram outros filhos, com maiores proporções naquelas de 10 a 16 anos (12,6%, com iniciação sexual precoce e aborto (22,8%. Após a gravidez na adolescência foi constatado o abandono escolar, maior coabitação com parceiro, procura ao planejamento familiar, uso de contraceptivos, presença de novos filhos.The objective was to study pre- and post-gestational changes in the sociodemografic and reproductive health of women who were adolescent mothers, in Feira de Santana, Bahia, Brazil. A sectional study design was used, with a randomly selected conglomerates of 438 females who seeked medical attention at the Basic Health Services. For the statistical analysis, the average, standard deviation and test of Mcnemar. During the pre-gestational period 84.8% of them frequented primary schools, 41.8% were 17 to 19 years old. Furthermore, 66.0% were singles, 62.6% lived with their families. Family Planning Services was not sought out by 91.2% and 60

  20. Polimorfismos del gen ob en bovinos de raza holstein en la Comarca Lagunera, México

    Sarai S. Mendoza-Retana

    2017-01-01

    Full Text Available La Comarca Lagunera es la cuenca lechera más importante de México. En la actualidad se están utilizando diversas técnicas que permiten evaluar genéticamente el animal a una edad temprana, permitiendo seleccionar futuros reproductores con características deseables. Entre los genes relacionados con la producción de leche, se encuentran el gen Ob también llamado gen Leptina el cual actúa sobre el sistema nervioso central y tejidos periféricos jugando un papel muy importante en la modulación regulación del apetito, ganancia de peso vivo, incremento del metabolismo energético y el anabolismo muscular. Este trabajo se realizó para determinar el polimorfismo de longitud del fragmento de restricción ACI I de gen leptina en el exón 2 y correlacionarlo con los parámetros de producción y calidad de leche. Se recolectaron 100 muestra de sangre de vacas en producción del establo “Lácteos Florida” de Francisco I. Madero municipio de Coahuila, México con tres esta tus de producción: altas, medias y bajas La extracción de ADN se realizó por el método modificado de Salting - Out. Se realizó PCR del gen leptina originando un fragmento de 272 bp de longitud y se realizó PCR - RFLP con la enzima de restricción ACI I y secue nciación, correlacionando los genotipos TT, CT Y CC con tres estatus de producción de leche: altas, medias, bajas. El análisis estadístico indicó que las vacas portadoras del genotipo homocigoto (TT tienen un efecto significativo (P<0.01 con respecto a l as características de producción y calidad de leche ya que tuvieron un mayor consumo de alimento, ganancia de peso, además de una elevada producción de leche en comparación a los genotipos heterocigoto (CT y homocigoto (CC. Los resultados obtenidos muest ran que l a identificación molecular de polimorfismos del gen Ob puede usarse como herramienta de selección genética en bovinos de raza Holstein.

  1. Environmental Information for the U.S. Next Generation Air Transportation System (NextGen)

    Murray, J.; Miner, C.; Pace, D.; Minnis, P.; Mecikalski, J.; Feltz, W.; Johnson, D.; Iskendarian, H.; Haynes, J.

    2009-09-01

    It is estimated that weather is responsible for approximately 70% of all air traffic delays and cancellations in the United States. Annually, this produces an overall economic loss of nearly 40B. The FAA and NASA have determined that weather impacts and other environmental constraints on the U.S. National Airspace System (NAS) will increase to the point of system unsustainability unless the NAS is radically transformed. A Next Generation Air Transportation System (NextGen) is planned to accommodate the anticipated demand for increased system capacity and the super-density operations that this transformation will entail. The heart of the environmental information component that is being developed for NextGen will be a 4-dimensional data cube which will include a single authoritative source comprising probabilistic weather information for NextGen Air Traffic Management (ATM) systems. Aviation weather constraints and safety hazards typically comprise meso-scale, storm-scale and microscale observables that can significantly impact both terminal and enroute aviation operations. With these operational impacts in mind, functional and performance requirements for the NextGen weather system were established which require significant improvements in observation and forecasting capabilities. This will include satellite observations from geostationary and/or polar-orbiting hyperspectral sounders, multi-spectral imagers, lightning mappers, space weather monitors and other environmental observing systems. It will also require improved in situ and remotely sensed observations from ground-based and airborne systems. These observations will be used to better understand and to develop forecasting applications for convective weather, in-flight icing, turbulence, ceilings and visibility, volcanic ash, space weather and the environmental impacts of aviation. Cutting-edge collaborative research efforts and results from NASA, NOAA and the FAA which address these phenomena are summarized

  2. Resgate vegetativo por alporquia de genótipos adultos de urucum (Bixa orellana L.

    Nilton César Mantovani

    2010-09-01

    Full Text Available Este trabalho teve por objetivos avaliar a técnica de alporquia visando ao resgate vegetativo de genótipos de urucum (Bixa orellana L. e a obtenção de plantas fornecedoras de propágulos para processos de propagação clonal. Foram utilizadas dez plantas matrizes de urucum, com 12 anos de idade, obtidas partindo do cruzamento artificial entre os genótipos "Fruto Verde Piloso" X "Fruto Vermelho Liso". Os alporques foram realizados em ramos de 1 a 2 cm de diâmetro, utilizando-se como substrato uma mistura de vermiculita e musgo. Foi avaliado o efeito (1 do tipo de anelamento da casca dos ramos (total ou parcial, com 1 cm de comprimento, (2 do AIB (ácido indol-3-butírico a 0 e 4,92 mM aplicado em papel filtro e (3 do tipo de proteção dos alporques (filmes plásticos transparente ou preto ou tecido tencel, no enraizamento de alporque dos dez genótipos. A técnica de alporquia proporcionou o enraizamento de ramos dos dez genótipos avaliados, com eficiência variável de 20 a 100%, havendo efeito do genótipo sobre a frequência de enraizamento. A sobrevivência desses alporques foi de 100% após o plantio quando estes foram produzidos com anelamento total, tratados com AIB e protegidos com plástico transparente. Em casa de vegetação os alporques desenvolveram ramos partindo da brotação de gemas caulinares constituindo estoques de explantes apropriados para serem utilizados como estacas ou como fontes de segmentos nodais para a propagação in vitro desta espécie.

  3. Overview of materials R and D for fusion and Gen-4

    Kohyama, A. [Kyoto Univ., lnstitute of Advanced Energy (Japan); Tavassoli, F.; Carre, F.; Billot, P. [CEA Saclay, 91 - Gif sur Yvette (France); Zinide, S. [Oak Ridge National Laboratory, Materials Science and Technology Div., AK TN (United States)

    2007-07-01

    Full text of publication follows: In view of the growing need for energy, the risk of exhaustion of fossil fuel and the problem of global warming, the nuclear energy is receiving added attention as a realistic and viable advanced solution. International collaborations on Generation IV (Gen-IV) fission reactors and on ITER and DEMO fusion reactors are developing. This is particularly the case in the sector of materials, where they hold the key to success of these systems. The international community has recognized and planned its materials R and D work for Fusion and Gen-IV reactors with the following considerations: 1- The time allotted to materials R and D is short and may not allow development of totally new materials. 2- Activities required, to cover existing materials variations and service conditions necessary for reactor design, are very time consuming. 3- The work to be done must build upon the existing knowledge of materials and avoid duplications. Although ITER for fusion and Generation four International Forum (GIF) for Gen-IV are important international collaborative programs, they are insufficient to meet all the national energy policies of the participating countries. This paper provides an overview of the materials R and D carried out for fusion and Gen-IV reactors at international and national levels. Materials programs discussed include both cross-cutting and reactor specific actions, where major tasks can be defined as: + Cross-cutting materials tasks: - materials for high temperature service; - materials with neutron damage tolerance; - materials behavior analysis and modeling; - high temperature design methodology. + Reactor specific materials tasks: - very high temperature alloys; - carbon, high temperature ceramics and their composites; - materials compatibilities. Starting with a brief introduction of materials R and D strategies, ITER and Broader Approach (BA), overall activities for fusion and GIF for Gen-IV will be reviewed. Domestic

  4. Análisis genético del virus peruano de la fiebre amarilla

    Carlos Yábar V

    2002-01-01

    Full Text Available Objetivo: Determinar las variantes genéticas de aislamientos del virus peruano de la Fiebre Amarilla (FA. Materiales y métodos: la región carboxiterminal del gen de la envoltura (E de cinco aislamientos de FA obtenidas de pacientes provenientes de Ayacucho 1978 (PER1, Junín 1995 (PER2, Cerro de Pasco (PER3, Cusco (1998 y San Martín (1999 fue amplificada por PCR, secuenciada y analizada con programas software de ADN. Resultados: el índice de similaridad de la secuencia de nucleótidos entre los cinco aislamientos reveló valores oscilantes entre 94,3% y 99,3%, mientras que la secuencia de aminoácidos presentó valores entre 97,6% y 99,7% de similaridad. El análisis filogenético demostró una distancia genética entre 0,40 y 6,50 mediante la secuencia de nucleótidos y a través de la secuencia de aminoácidos se observó un rango de 0,30 y 4,29. Sin embargo, las secuencias correspondientes a los sitios de glicosilación y a los epítopes de reconocimiento humoral fueron conservadas entre los cinco aislamientos, con excepción de algunos aislamientos de referencia reportados por otros autores. Conclusiones: los virus de FA peruanos forman un grupo filogenético distinto a otros virus de FA sudamericanos, basados en el análisis genéticos del gen E.

  5. Transformação genética em espécies florestais.

    Claudia Studart-Guimarães

    2010-08-01

    Full Text Available A transformação genética, que compreende a introdução de genes exógenos de forma controlada no genoma de uma célula vegetal e posterior regeneração da planta transgênica, tem contribuído com os programas de melhoramento genético de plantas pela obtenção de genótipos com novas características de interesse. O melhoramento de espécies florestais é limitado por características intrínsecas a tais espécies, como a altura dos indivíduos e o ciclo longo de vida. A transformação genética constitui, portanto, uma alternativa para a obtenção de espécies florestais com características desejáveis em um menor espaço de tempo. Plantas transgênicas com resistência a determinadas pragas, com melhor qualidade de madeira, maior produção de biomassa, tolerância a herbicidas, entre outras características de interesse, já foram obtidas para diferentes espécies florestais de importância econômica como álamo, eucalipto e pinheiros em geral. Este trabalho mostra a importância da transformação genética, associada a outras técnicas biotecnológicas no melhoramento de espécies florestais, as técnicas de transformação mais utilizadas e as características que já foram introduzidas nessas espécies pela transformação.

  6. Genética molecular de caracteres cuantitativos en cruzamientos dialélicos de tomate

    Guillermo Raúl Pratta

    2011-05-01

    Full Text Available El objetivo de este trabajo fue evaluar marcadores moleculares y caracteres cuantitativos en un cruzamiento dialélico completo sin recíprocos, entre cinco líneas recombinantes de tomate y sus híbridos. Se obtuvieron perfiles de AFLP ("amplified fragment length polymorphism" y de polipéptidos del pericarpio en cuatro estados de madurez del fruto de 15 genotipos. Se evaluaron, entre otros: peso, acidez titulable, pH, vida poscosecha y firmeza. Se calculó el porcentaje de polimorfismo para los marcadores moleculares y el porcentaje de variabilidad genética para los caracteres cuantitativos en el grupo de líneas recombinantes, el de híbridos y el conjunto de genotipos. Se realizaron análisis de agrupamiento con cada nivel de variación genética. Para AFLP, el porcentaje de polimorfismo varió entre 34 y 54% y, para los perfiles polipeptídicos, entre 40 y 78%. Mayor polimorfismo fue observado en el grupo de híbridos. La variabilidad genética fue de 100% para acidez y 34% para firmeza, con los mayores valores en los parentales. La similitud genética varió entre los genotipos según el nivel de variación genética; pero la consistencia en el agrupamiento de algunas líneas recombinantes y sus híbridos fue conservada, lo que evidenció asociaciones entre los datos moleculares y fenotípicos.

  7. Next-Gen3: Sequencing, Modeling, and Advanced Biofuels - Final Technical Report

    Zengler, Karsten [Univ. of California, San Diego, CA (United States). Dept. of Pediatrics; Palsson, Bernhard [Univ. of California, San Diego, CA (United States). Dept. of Bioengineering; Lewis, Nathan [Univ. of California, San Diego, CA (United States). Dept. of Pediatrics

    2017-12-27

    Successful, scalable implementation of biofuels is dependent on the efficient and near complete utilization of diverse biomass sources. One approach is to utilize the large recalcitrant biomass fraction (or any organic waste stream) through the thermochemical conversion of organic compounds to syngas, a mixture of carbon monoxide (CO), carbon dioxide (CO2), and hydrogen (H2), which can subsequently be metabolized by acetogenic microorganisms to produce next-gen biofuels. The goal of this proposal was to advance the development of the acetogen Clostridium ljungdahlii as a chassis organism for next-gen biofuel production from cheap, renewable sources and to detail the interconnectivity of metabolism, energy conservation, and regulation of acetogens using next-gen sequencing and next-gen modeling. To achieve this goal we determined optimization of carbon and energy utilization through differential translational efficiency in C. ljungdahlii. Furthermore, we reconstructed a next-generation model of all major cellular processes, such as macromolecular synthesis and transcriptional regulation and deployed this model to predicting proteome allocation, overflow metabolism, and metal requirements in this model acetogen. In addition we explored the evolutionary significance of tRNA operon structure using the next-gen model and determined the optimal operon structure for bioproduction. Our study substantially enhanced the knowledgebaase for chemolithoautotrophs and their potential for advanced biofuel production. It provides next-generation modeling capability, offer innovative tools for genome-scale engineering, and provide novel methods to utilize next-generation models for the design of tunable systems that produce commodity chemicals from inexpensive sources.

  8. Aproximación genómica al diagnóstico genético de las distrofias hereditarias de retina y búsqueda de nuevos genes relacionados

    González del Pozo, María

    2014-01-01

    Diagnosticar genéticamente a las familias afectas de alguna de las distrofias hereditarias de retina (DHR) es, desde el punto de vista del genetista, una tarea ardua y complicada, si atendemos a la gran cantidad de genes y mutaciones reportados hasta la fecha. La gran heterogeneidad clínica y genética que caracteriza a este conjunto de enfermedades, es sin duda el mayor impedimento para su resolución genética. En este escenario, el empleo de herramientas cada vez más poderosas es indispensabl...

  9. Não é ficção científica, é ciência : a genética e a biotecnologia em revista

    Daniela Ripoll

    2001-01-01

    A mídia tem-se ocupado com frequência, nos últimos anos, das "novidades" da genética e da biotecnologia. Textos de revistas, jornais, cartoons, fumes de Hollywood, propagandas de empresas e laboratórios, novelas de TV, talk shows, catálogos de venda de organismos, no telejornal noturno, em reportagens especiais, manchetes: a genética, a biotecnologia, a engenharia genética, a biologia molecular e as novas" genética molecular e genômica parecem ocupar uma posição de visibilidade e destaque sej...

  10. GenGIS 2: geospatial analysis of traditional and genetic biodiversity, with new gradient algorithms and an extensible plugin framework.

    Donovan H Parks

    Full Text Available GenGIS is free and open source software designed to integrate biodiversity data with a digital map and information about geography and habitat. While originally developed with microbial community analyses and phylogeography in mind, GenGIS has been applied to a wide range of datasets. A key feature of GenGIS is the ability to test geographic axes that can correspond to routes of migration or gradients that influence community similarity. Here we introduce GenGIS version 2, which extends the linear gradient tests introduced in the first version to allow comprehensive testing of all possible linear geographic axes. GenGIS v2 also includes a new plugin framework that supports the development and use of graphically driven analysis packages: initial plugins include implementations of linear regression and the Mantel test, calculations of alpha-diversity (e.g., Shannon Index for all samples, and geographic visualizations of dissimilarity matrices. We have also implemented a recently published method for biomonitoring reference condition analysis (RCA, which compares observed species richness and diversity to predicted values to determine whether a given site has been impacted. The newest version of GenGIS supports vector data in addition to raster files. We demonstrate the new features of GenGIS by performing a full gradient analysis of an Australian kangaroo apple data set, by using plugins and embedded statistical commands to analyze human microbiome sample data, and by applying RCA to a set of samples from Atlantic Canada. GenGIS release versions, tutorials and documentation are freely available at http://kiwi.cs.dal.ca/GenGIS, and source code is available at https://github.com/beiko-lab/gengis.

  11. Genética Molecular das Epidermólises Bolhosas Molecular Genetics of Epidermolysis Bullosa

    Hiram Larangeira de Almeida Jr

    2002-10-01

    Full Text Available O estudo das alterações moleculares das epidermólises bolhosas tem contribuído para que se compreenda melhor essas enfermidades. Na epidermólise bolhosa simples a maioria dos casos está associada com alteração nas citoqueratinas basais 5 (gen KRT5 e 14 (gen KRT14, o que modifica o citoesqueleto na camada basal da epiderme, levando à degeneração dessa camada, formando bolha intra-epidérmica. Mutações na plectina (gen PLEC1, componente da placa interna do hemidesmossoma, levam também à clivagem intra-epidérmica. Na epidermólise bolhosa juncional vários gens estão envolvidos, em decorrência da complexidade da zona da membrana basal, todos levando ao descolamento dos queratinócitos basais na lâmina lúcida, pela disfunção da aderência entre esses e a lâmina densa. Alterações na laminina 5 (gens LAMA3, LAMB3 e LAMC2, integrina alfa6beta4 (gens ITGA6 e ITGB4 e colágeno XVII (gen COL17A1 foram descritas. Por fim, na epidermólise bolhosa distrófica apenas um gen está mutado, alterando o colágeno VII (gen COL7A1, principal componente das fibrilas ancorantes, produzindo clivagem abaixo da lâmina densa, variando fenotipicamente de acordo com a conseqüência da mutação. Outra aplicação importante dessas informações refere-se ao diagnóstico pré-natal, com a perspectiva no futuro da terapia gênica.New data regarding the molecular aspects of the heterogeneous group of epidermolysis bullosa has brought some important information about its pathogenesis. In epidermolysis bullosa simplex the majority of mutations are localized in the genes of the basal cytokeratin 5 (gene KRT5 and 14 (gene KRT14, cytolysis at this layer with intraepidermal blister is seen under light microscopy. Mutations of plectin (gene PLEC1, a protein found in the inner hemidesmosomal plaque, leads also to intraepidermal blisters. In junctional epidermolysis bullosa many proteins from the basal membrane zone are involved, such as laminin 5 (genes

  12. Actividad del Sistema Renina-Angiotensina en relación con sus polimorfismos genéticos

    Morcillo Hidalgo, Luis

    2015-01-01

    La realización del presente estudio sobre sujetos jóvenes y sanos no hipertensos tiene dos objetivos primordiales: El primero es analizar la relación de los polimorfismos de los genes del Sistema Renina-Angiotensina, el M235T del gen del angiotensinógeno, el Inserción/Delección del gen de la ECA y el A1166C del gen del receptor AT1 para la angiotensina II, con los niveles en plasma de angiotensina I, angiotensina II y angiotensina-(1-7), todas sustancias peptídicas activas del sistema E...

  13. Identificación de marcadores microsatelites para el estudio de la diversidad genética de Taenia solium

    Eguiluz Moya, María Lisseth

    2014-01-01

    La diversidad genética en parásitos está orientada hacia el esclarecimiento de la epidemiología y transmisión de las enfermedades. Muchos aspectos de la variación genética de Taenia solium se mantienen aún desconocidos. El estudio de la variación genética de este parásito permitiría comprender las diferencias observadas en la infectividad, patogenicidad y respuesta al tratamiento contra la neurocisticercosis. El polimorfismo de los loci microsatélites es un método utilizado ampliamente para e...

  14. Typing of 48 autosomal SNPs and amelogenin with GenPlex SNP genotyping system in forensic genetics

    Tomas Mas, Carmen; Stangegaard, Michael; Børsting, Claus

    2008-01-01

    , Somalia and Greenland were investigated with GenPlex using a Biomek 3000 (Beckman Coulter) robot. The results were compared to results obtained with an ISO 17025 accredited SNP typing assay based on single base extension (SBE). With the GenPlex SNP genotyping system, full SNP profiles were obtained in 97.......6% of the investigations. Perfect concordance was obtained in duplicate investigations and the SNP genotypes obtained with the GenPlex system were concordant with those of the accredited SBE based SNP typing system except for one result in rs901398 in one of 286 individuals most likely due to a mutation 6 bp downstream...

  15. Diagnóstico genético prenatal y aborto. Dos cuestiones de eugenesia y discriminación.

    Villela Cortés, Fabiola; Linares Salgado, Jorge

    2015-01-01

    Los avances en genética seguidos de las nuevas tecnologías en la detección temprana de afecciones genéticas conllevan dilemas bioéticos sobre el uso adecuado de estas técnicas, la información que se le da a la mujer embarazada y la decisión que ella tomará al recibirla. Detectar a tiempo anomalías genéticas permite, en algunas ocasiones, el inicio de un tratamiento adecuado que permita que el niño por nacer no desarrolle una enfermedad discapacitante, como el caso de la fenilcetonuria,...

  16. Evaluación genética de los salmónidos asturianos como recurso natural

    Abad García, David

    2012-01-01

    En este proyecto se analiza la estructura genética de los stocks utilizados para la repoblación de trucha común en el Principado de Asturias, pertenecientes a dos piscifactorías diferentes, con el fin de establecer si los repobladores cumplen con la normativa vigente sobre la liberación de individuos no autóctonos al medio natural, que está actualmente prohibida. Para ello se utiliza como marcador genético el gen del enzima lactato deshidrogenasa LDH-C, que permite diferenciar las poblaciones...

  17. Defluviimonas denitrificans gen. nov., sp. nov., and Pararhodobacter aggregans gen. nov., sp. nov., non-phototrophic Rhodobacteraceae from the biofilter of a marine aquaculture

    Foesel, Bärbel U.; Drake, Harold L.; Schramm, Andreas

    2011-01-01

    Three Gram-negative bacterial strains were isolated from the biofilter of a recirculating marine aquaculture. They were non-pigmented rods, mesophiles, moderately halophilic, and showed chemoorganoheterotrophic growth on various sugars, fatty acids, and amino acids, with oxygen as electron acceptor......, but clearly separate from, the genera Rhodobacter, Rhodovulum, and Rhodobaca. Based on morphological, physiological, and 16S rRNA-based phylogenetic characteristics, the isolated strains are proposed as new species of two novel genera, Defluviimonas denitrificans gen. nov., sp. nov. (type strain D9-3T = DSM...

  18. Heterogeneidad clínica y genética en pacientes con retinosis pigmentaria en Pinar del Río. Importancia del asesoramiento genético

    Nercy Rodríguez Garcia

    2013-12-01

    Full Text Available Introducción: la retinosis pigmentaria (RP es una degeneración progresiva, crónica y de carácter hereditario de la retina, que conduce a discapacidad visual o ceguera sin un tratamiento adecuado. Objetivo: determinar la variabilidad de la expresión clínica en la presentación de la retinosis pigmentaria, así como el tipo de herencia con que se transmite en los enfermos y familias de los individuos ingresados en el servicio provincial de la enfermedad en Pinar del Río, lo que permitirá aplicar una estrategia para el asesoramiento genético individual y familiar. Material y Método: se realizó una investigación descriptiva, retrospectiva y transversal, teniendo como universo y muestra a los 259 pacientes con diagnóstico del padecimiento, registrados en el servicio provincial, de enero a septiembre del año 2012. Resultados: predominó el sexo masculino con 154 pacientes y el grupo de edades entre 40 y 59 años de edad con un 46,71 %. De acuerdo a la clasificación cubana, prevalece el debut precoz, el estadio I, la herencia autosómica recesiva y la forma típica de presentación. Resaltan el síndrome de Usher como entidad asociada y en 99 familias se determinó que la enfermedad sigue un patrón de herencia autosómico recesivo, en 38 de las cuales existe consanguinidad. Las limitaciones de estos enfermos obligan a suministrarles una información adecuada y precisa mediante los servicios de asesoramiento genético. Conclusiones: la gran heterogeneidad clínica y genética de la enfermedad ha generado que la estrategia de asesoramiento genético incluya la personalización del proceso de acuerdo a cada paciente y familia y se le brinde mayor importancia a los grupos de apoyo mutuo.

  19. Divergência genética entre cinco genótipos de melão rendilhado Genetic divergence among five muskmelon cultivars

    Adriana Antonieta do Nascimento Rizzo

    2002-06-01

    Full Text Available Estimou-se a divergência genética entre cinco genótipos de melão rendilhado (Cucumis melo var. reticulatus Naud. (JAB-20, JAB-21, JAB-22, JAB-23 e 'Bônus nº 2' e determinou-se qual a contribuição relativa das 16 características avaliadas [nº médio de flores masculinas, hermafroditas/planta; produção total de frutos/m², peso médio dos frutos comerciáveis; diâmetro médio transversal e longitudinal do fruto (DMTF e DMLF; diâmetro médio transversal da inserção do pedúculo (DMTP; espessura média do mesocarpo e epicarpo (EMM e EME; diâmetro médio longitudinal e transversal do lóculo (DMTL e DMLL; proporção da cavidade (PC; desprendimento de sementes (DS; teor de sólidos solúveis totais (SST, pH e acidez titulável (AT] na divergência gen��tica. Obtiveram-se dois grupos de similaridade: I- JAB-20, JAB-21 e 'Bônus nº2' e II- JAB-22 e JAB-23. As características DMLF, DMTP, DMLL, DS e SST foram as que mais contribuíram para a divergência genética entre os genótipos.The genetic divergence of five cultivars of muskmelon was estimated (Cucumis melo var. reticulatus Naud (JAB-20, JAB-21, JAB-22, JAB-23 and 'Bônus nº2' and the relative contribution of each 16 characteristics were determined (number of male flowers per plant; total production of fruit, weight of fruits; longitudinal and transversal diameters of fruits; thickness and color of flesh and skin; longitudinal and transversal loculos diameter of fruits; seed loosing; netting thickness; and % total solvers solids, pH and total acidity in genetic divergence. Two groups of similarity were formed between the genitors by the values of D², one of then was constituted of the JAB-20 and JAB-21 and 'Bônus nº 2' genotypes, and another of the JAB-22 and JAB-23. The characteristics of longitudinal loculos diameters, longitudinal diameter of fruits, transversal diameter of peduncle insertion, % total solvers solids and seed loosing contributed to for genetic

  20. Fluorescence resonance energy transfer-based real-time polymerase chain reaction method without DNA extraction for the genotyping of F5, F2, F12, MTHFR, and HFE.

    Martinez-Serra, Jordi; Robles, Juan; Nicolàs, Antoni; Gutierrez, Antonio; Ros, Teresa; Amat, Juan Carlos; Alemany, Regina; Vögler, Oliver; Abelló, Aina; Noguera, Aina; Besalduch, Joan

    2014-01-01

    Blood samples are extensively used for the molecular diagnosis of many hematological diseases. The daily practice in a clinical laboratory of molecular diagnosis in hematology involves using a variety of techniques, based on the amplification of nucleic acids. Current methods for polymerase chain reaction (PCR) use purified genomic DNA, mostly isolated from total peripheral blood cells or white blood cells (WBC). In this paper we describe a real-time fluorescence resonance energy transfer-based method for genotyping directly from blood cells. Our strategy is based on an initial isolation of the WBCs, allowing the removal of PCR inhibitors, such as the heme group, present in the erythrocytes. Once the erythrocytes have been lysed, in the LightCycler(®) 2.0 Instrument, we perform a real-time PCR followed by a melting curve analysis for different genes (Factors 2, 5, 12, MTHFR, and HFE). After testing 34 samples comparing the real-time crossing point (CP) values between WBC (5×10(6) WBC/mL) and purified DNA (20 ng/μL), the results for F5 Leiden were as follows: CP mean value for WBC was 29.26±0.566 versus purified DNA 24.79±0.56. Thus, when PCR was performed from WBC (5×10(6) WBC/mL) instead of DNA (20 ng/μL), we observed a delay of about 4 cycles. These small differences in CP values were similar for all genes tested and did not significantly affect the subsequent analysis by melting curves. In both cases the fluorescence values were high enough, allowing a robust genotyping of all these genes without a previous DNA purification/extraction.