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  1. Bases moleculares das hemoglobinas variantes e talassemias no Rio Grande do Sul

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    Sandrine Comparsi Wagner

    2010-01-01

    Hemoglobinopatias são alterações nos genes das globinas que determinam hemoglobinas variantes e/ou talassemias, com manifestações clínicas variáveis em seus portadores. Estudos realizados no Brasil mostram alta prevalência de heterozigotos para Hb S e Hb C, além das talassemias α e β. Considerando-se essa alta frequência populacional e a constituição étnica do sul do país, este trabalho teve como objetivo determinar as bases moleculares das hemoglobinas variantes e talassemias no Rio Grande d...

  2. Prevalência de talassemias e hemoglobinas variantes em pacientes com anemia não ferropênica

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    Wagner,Sandrine C.; Silvestri,Matheus C.; Bittar,Christina M.; Friedrisch,João R.; Silla,Lúcia M. R.

    2005-01-01

    Para estabelecer a freqüência de hemoglobinopatias e talassemias em pacientes com anemia não ferropênica foram estudados 58 casos de pacientes comprovadamente com anemia não ferropênica e 235 controles obtidos de pessoas sem anemia. Todas as amostras foram obtidas do Hospital de Clínicas de Porto Alegre (HCPA), RS, Brasil. As técnicas realizadas foram eletroforese em acetato de celulose, pH alcalino, pesquisa citológica de Hb H, HPLC, hemograma e ferritina. A análise dos dados realizada no gr...

  3. Prevalência de talassemias e hemoglobinas variantes em pacientes portadores de lúpus eritematoso sistêmico Prevalence of thalassemias and variant hemoglobins in patients with systemic lupus erythematosus

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    Frank S. Castro

    2008-02-01

    Full Text Available O lúpus eritematoso sistêmico (LES é uma doença tipicamente multigênica e multifatorial, com grande complexidade clínica e fisiopatológica. As causas do LES não são totalmente conhecidas, mas sabe-se que fatores ambientais e genéticos estão envolvidos. Dentre as várias manifestações clínicas observadas em pacientes com LES, as anemias chamam a atenção principalmente quando se observa nesse estudo uma prevalência de 52,5% dos pacientes com índices hematimétricos sugestivos de anemias. Embora a anemia geralmente já seja observada em pacientes com LES, estudos sobre a prevalência de anemias hereditárias, especialmente as hemoglobinopatias na população com LES, não têm sido conduzidos. O objetivo desse trabalho foi o de avaliar a prevalência das hemoglobinopatias e talassemia em pacientes portadores de LES. Para isso, foram estudadas 80 amostras de sangue de pacientes portadores de lúpus atendidos no ambulatório do Hospital das Clínicas de Goiânia. Foram utilizados testes laboratoriais não moleculares para a detecção das hemoglobinopatias. A freqüência das alterações da hemoglobina foi de 10,0%, encontradas em oito pacientes. Dessas alterações, a mais prevalente foi a talassemia alfa, encontrada em quatro pacientes, correspondendo a uma freqüência de 5,0% da população estudada. Depois, foi o heterozigoto para a hemoglobina S, encontrada em dois pacientes, correspondendo a 2,5% da população, e também outro heterozigoto para a hemoglobina C, encontrada em um paciente, correspondendo a 1,25%, e um paciente com beta talassemia menor, correspondendo a 1,25%. Nenhum caso de homozigose foi encontrado no presente estudo. Este trabalho demonstrou que não houve diferença na prevalência dos distúrbios da hemoglobina entre a população em geral e os portadores de LES.Systemic lupus erythematosus (SLE is a typically multigenic and multifatorial disease with remarkable clinical and pathogenic complexities. The

  4. Hemoglobin polymorphism in Hampshire Down sheep herd/ Polimorfismo de hemoglobina em rebanho de ovinos Hampshire Down

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    Silvia Manduca Trapp

    Full Text Available The present study aimed to determine the types of hemoglobin in Hampshire Down crossbreed sheep, and verify that this locus is in Hardy-Weinberg equilibrium. There have been collected 46 blood samples of healthy Hampshire Down crossbreed sheep. These samples were used to separate the hemoglobin per electrophoresis. The electrophoresis of the hemoglobin revealed a slow band characterized as hemoglobin A (HbAA, a fast band characterized as hemoglobin B (HbBB and two bands in the heterozygous hemoglobin A and B (HbAB. The HbAB type was the most frequently one, followed by hemoglobin A (HbAA and B (HbBB. The genotypic frequency of individuals BB, AB and AA were 36,95; 54,35 and 8,70% respectively. The allelic frequency of A and B were respectively 35,87% and 64,13%.. The qui square test (?2 = 0.859 and p = 0.6509 confirmed that the tested locus is in Hardy-Weinberg equilibrium.O presente trabalho teve como objetivo determinar os tipos de hemoglobinas em ovinos Hampshire Down e verificar se este locus encontra-se em equilíbrio de Hardy-Weinberg. Foram coletadas 46 amostras de sangue de ovinos Hampshire Down, considerados clinicamente sadios. Estas amostras foram utilizadas para a separação das hemoglobinas por eletroforese. A eletroforese das hemoglobinas revelou uma banda lenta caracterizada como hemoglobina B (HbBB, uma banda rápida caracterizada como hemoglobina A (HbAA e duas bandas no heterozigoto para hemoglobinas A e B (HbAB. A variante HbAB foi a mais freqüentemente encontrada, seguida pela hemoglobina A (HbAA e B (HbBB. A freqüência genotípica dos indivíduos BB, AB e AA foram 36,95; 54,35 e 8,70% respectivamente. A freqüência alélica de A e B foram respectivamente 35,87% e 64,13%. Pelo teste do qui-quadrado realizado (?2 = 0,859 e p=0,6509 confirmou-se que o locus testado está em equilíbrio de Hardy-Weinberg.

  5. HEMOGLOBINA GLICADA E FRUTOSAMINA EM CÃES COM DIABETES MELLITUS

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    Beltrame, Olair Carlos; Locatelli-Dittrich, Rosangela; Laskoski, Luciane Maria; Patricio, Lia Fordiani Lenati; Medeiros, Nina da Cunha; Koch, Marília Oliveira

    2015-01-01

    Resumo O Diabetes mellitus (DM) ocorre com frequência em cães, sendo a glicemia o teste laboratorial de confirmação. O diagnóstico e monitoramento em pessoas são realizados pelas concentrações de hemoglobina glicada e frutosamina. O objetivo deste estudo foi diagnosticar a DM em 19 cães, com avaliação das concentrações da glicose sérica, hemoglobina glicada e frutosamina. Seis cães com DM e em tratamento com insulina foram acompanhados por um período de doze meses, com as mesmas avaliações he...

  6. Identificação e caracterização de variantes novas e raras da hemoglobina humana Identification of characterization of novel and rare variants of human hemoglobin

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    Elza M. Kimura

    2008-08-01

    Full Text Available As anormalidades estruturais da hemoglobina estão entre as doenças genéticas mais comumente encontradas nas populações humanas. O Laboratório de Hemoglobinopatias do Departamento de Patologia Clínica da Faculdade de Ciências Médicas da Universidade Estadual de Campinas - Unicamp, localizado em Campinas, no estado de São Paulo, região Sudeste do Brasil, realizou, em seus 27 anos de existência, cerca de 130.000 diagnósticos. Entre as variantes estruturais detectadas, as hemoglobinas S, C e D-Punjab foram, como esperado, as mais freqüentes, porém um número expressivo de outras hemoglobinas anômalas, novas e raras, também foi encontrado. Esses achados estão sumarizados no presente artigo.Hemoglobin structural abnormalities are among the most commonly found human genetic diseases. The Laboratory of Hemoglobinopathies in the Clinical Pathology Department of the Medical Sciences School of the State University in Campinas - Unicamp, São Paulo, Southeastern Brazil, carried out, in its 27 years of activity, about 130,000 diagnoses. As expected, hemoglobins S, C and D were the most frequently observed variants, but an expressive number of other abnormal, novel and rare hemoglobins, was also detected. These findings are summarized in the present article.

  7. Prevalência de talassemias e hemoglobinas variantes no estado de Goiás, Brasil Prevalence of thalassemias and variant hemoglobins in the state of Goiás, Brazil

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    Paulo Roberto de Melo-Reis

    2006-12-01

    Full Text Available As anemias hereditárias, em especial as talassemias e hemoglobinas (Hb variantes, são as mais comuns das alterações genéticas humanas; sua freqüência na população brasileira é muito variável, dependendo dos grupos raciais formadores de cada região. O povoamento de Goiás, que teve início logo após o seu descobrimento, em 1726, motivado pela procura de ouro, foi composto principalmente por portugueses e escravos africanos, contexto que favoreceu a mestiçagem entre eles. Considerando que esses povos apresentam genes para as hemoglobinas anormais com freqüências variadas, é esperado que se encontrem essas alterações genéticas na nossa população. O objetivo deste trabalho foi avaliar a prevalência de talassemias e hemoglobinas variantes na população de Goiás. Para isso a casuística foi composta por 404 alunos participantes dos diversos cursos da Universidade Católica de Goiás (UCG, oriundos de 55 cidades do estado de Goiás. A prevalência de anemia hereditária por talassemias e hemoglobinas variantes em Goiás foi de 10,1%, cuja ordem decrescente foi a seguinte: talassemia alfa heterozigótica (5,2%, heterozigose para hemoglobina S (Hb AS (2,2%, heterozigose para hemoglobina C (Hb AC (1%, talassemia beta menor (0,7%, associação entre talassemia alfa e heterozigose para Hb S (0,5%, associação entre talassemia alfa e heterozigose para Hb C (0,3% e heterozigose para hemoglobina D (Hb AD (0,3%. Nenhum caso de homozigose foi encontrado no presente estudo. Este trabalho demonstrou a dispersão dos genes para Hb S, Hb C e Hb D, bem como de talassemias alfa e beta em uma população do estado de Goiás. Por essa razão, concluímos que é importante realizar programas com maior abrangência da população para estudo da epidemiologia das talassemias e hemoglobinas variantes no estado de Goiás.The hereditary anemias, especially the thalassemies and hemoglobinopathies are the most common human genetic abnormalities. Their

  8. Enfermedad por Hemoglobina H: primer caso de la variante de hemoglobina H tipo (-α3.7/ --SEA) en Costa Rica.

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    Walter Cartín-Sánchez; Kathia Valverde-Muñoz; Carlos Suárez-Vargas; Jorge López-Villegas

    2010-01-01

    La enfermedad por Hemoglobina H es la forma más común de talasemia intermedia y posee muchas características que requieren cuidadosa consideración en su manejo clínico. En la mayoría de los casos, la enfermedad por Hemoglobina H resulta de un estado doble heterocigoto producido por una deleción tipo α0 que remueve ambos genes de α-globina en uno de los cromosoma 16 y de una deleción tipo α+ en uno de los genes de α-globina en el otro cromosoma 16, resultando en una condiciσn tipo (--/-α). El ...

  9. Prevalência das hemoglobinas S e C em heterozigose em duas comunidades de povos de Terreiros na cidade de Teresina, Piauí

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    Leonardo Ferreira Soares

    2015-09-01

    Full Text Available Doença hereditária de maior prevalência no Brasil e no mundo, a doença falciforme é considerada problema de saúde pública. Indivíduos que apresentam a HbS em homozigose (SS evidenciam uma condição grave da doença, enquanto indivíduos com a HbS em heterozigose AS e AC (traço falciforme, não apresentam manifestações clínicas, conferindo uma vida normal ao seu portador. O presente estudo objetivou fornecer subsídios para a consolidação do Programa Estadual da Doença Falciforme no estado do Piauí, apresentando a prevalência da doença falciforme e a sua herança genética em 62 indivíduos frequentadores de terreiros de Umbanda. A determinação das hemoglobinas variantes foi realizada por cromatografia líquida de alta performance (HPLC, utilizando o analisador de hemoglobinas Variant-II (Biorad. O estudo evidenciou a presença das hemoglobinas Hb AS (N=4 6,5%; Hb AC (N=3 4,8%; Hb SC (N=2 3,2%. Dos 62 indivíduos pesquisados com Hemoglobinas variantes, 19 eram do sexo masculino, enquanto 43 eram do sexo feminino. Apresentaram hemoglobinas variantes 7 mulheres e 2 homens. A maioria da população estudada estava constituída por pessoas negras (87%, seguido por pardos (8% e brancos (5%. A soma da porcentagem de negros e pardos é de 95%. O presente estudo piloto corrobora a hipótese da prevalência elevada da doença falciforme e da sua herança genética na população negra do estado do Piauí, necessitando da sua continuidade, com cobertura de maior quantidade do universo de terreiros, aliada a ações de atenção à saúde.Palavras-chaves: Doença falciforme. Anemia falciforme. Traço falciforme. ABSTRACTPrevalence of hemoglobins S and C in heterozygous in two communities of Umbanda Temple in the city of Teresina, Piauí, BrazilHereditary disease most prevalent in Brazil and worldwide, sickle cell disease is considered a public health problem. Individuals who present in homozygous HbS (SS show a severe condition of

  10. Análise quantitativa e molecular de hemoglobina fetal em indivíduos da população brasileira

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    Zamaro Paula J. A.

    2003-01-01

    Full Text Available A hemoglobina fetal - Hb F, formada por duas cadeias gama e duas cadeias alfa, é característica do período fetal do desenvolvimento, tendo sua síntese diminuída no período pós-natal. Em algumas alterações hereditárias, a Hb F permanece aumentada, como nas delta-beta talassemia, beta talassemia e persistência hereditária de Hb F (PHHF. A síntese da globina gama também pode ser estimulada por fatores externos como leucemias, transplantes de medula óssea, induções químicas, dentre outros. Através da observação de Hb F aumentada em doadores de sangue por procedimentos eletroforéticos objetivou-se avaliar a quantidade de Hb F em amostras de sangue de candidatos à doação, visando estabelecer seus limites de normalidade na população de São José do Rio Preto e região, por meio de desnaturação alcalina e cromatografia líquida de alta pressão (HPLC, comparar as metodologias aplicadas e, nos indivíduos com Hb F aumentada, realizar estudos moleculares para identificar as mutações que alteram a expressão dos genes gama. Foram analisadas 208 amostras de sangue, sendo 119 de candidatos à doação e 89 de indivíduos sem sintomas de anemia ou achados hematológicos e com Hb F aumentada como grupo comparativo. Das 119 amostras de candidatos à doação, 110 foram utilizadas para traçar o perfil de normalidade de Hb F, comparando-se as metodologias de desnaturação alcalina e HPLC, onde se obteve a média de 1,48% e de 0,6%, respectivamente. A análise estatística por regressão linear mostrou diferença significativa na comparação entre as duas metodologias aplicadas, sendo a HPLC mais precisa para a quantificação de Hb F. Foram observados nos testes de rastreamento de hemoglobinas anormais nestas 110 amostras de sangue: 16,4% de alfa talassemia, 0,9% com Hb F aumentada, 0,9% com beta talassemia e 0,9% com hemoglobina variante de cadeia delta. Os outros nove doadores de sangue apresentaram Hb F acima de 10% em

  11. Curva de hemoglobina em um grupo de gestantes normais Hemoglobin curve in a normal pregnant women group

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    Pedro Augusto Marcondes de Almeida

    1973-09-01

    Full Text Available Através das dosagens de hemoglobina realizadas em várias épocas da gravidez, em 701 gestantes sem suplementação de ferro escolhidas por amostragem casual simples de um universo de 7050 no período de 1947 a 1969, foi construída uma curva com as taxas médias de hemoglobina, que evidenciou uma queda que atinge o máximo por volta do 7.° mês de gravidez e elevando-se a partir desta época. A partir dela foi construída uma curva operacional e discutida a sua importância no diagnóstico e conduta frente a anemia na gravidez.Through hemoglobin determinations made in various stages of pregnancy, in 701 pregnant women with no iron supplementation ad hoc chosen out of a number of 7050 in the period from 1947 to 1969, a curve was constructed with the average rate of hemoglobin, which gave evidence of a drop that reaches its maximum around the 7th month of pregnancy and rises from that moment on. From this a working graph was built up and then it was discussed its importance in the diagnostic and treatment in anemia in pregnancy.

  12. Enfermedad por Hemoglobina H: primer caso de la variante de hemoglobina H tipo (-α3.7/ --SEA) en Costa Rica. Hemoglobin H Disease: First Case of Hemoglobin H Variant Type (-α<3.7/ --SEA) in Costa Rica

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    Walter Cartín-Sánchez; Kathia Valverde-Muñoz; Carlos Suárez-Vargas; Jorge López-Villegas

    2010-01-01

    La enfermedad por Hemoglobina H es la forma más común de talasemia intermedia y posee muchas características que requieren cuidadosa consideración en su manejo clínico. En la mayoría de los casos, la enfermedad por Hemoglobina H resulta de un estado doble heterocigoto producido por una deleción tipo α0 que remueve ambos genes de α-globina en uno de los cromosoma 16 y de una deleción tipo α+ en uno de los genes de α-globina en el otro cromosoma 16, resultando en una condici...

  13. Estudo comparativo entre metodologias de triagem para detecção de hemoglobina S em bancos de sangue Comparative study between methods of screening for detection of hemoglobin S in the blood banks

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    Letícia Loi Giovelli

    2011-04-01

    Full Text Available INTRODUÇÃO: O traço falciforme é a presença em heterozigose da hemoglobina S (HbS. A partir de junho de 2004, por meio da RDC 153/04, tornou-se obrigatória a triagem de hemoglobinas anormais em doadores de sangue. OBJETIVO: O objetivo deste estudo foi a comparação de diferentes metodologias de triagem utilizadas nos bancos de sangue para a detecção da HbS. Material e método: No período de abril de 2007 a abril de 2008, foram realizados três métodos de detecção de HbS em 4.108 doadores de sangue aptos que se apresentaram ao banco de sangue do Hospital Universitário de Santa Maria (HUSM. O estudo comparativo entre as metodologias incluiu os testes de solubilidade e de gel-centrifugação, tendo como referência de positividade a presença de HbS na eletroforese de hemoglobina. RESULTADOS: Dos 4.108 doadores estudados, 23 (0,56% apresentaram resultado positivo para HbS e dois (0,05% para HbC. Das amostras positivas para HbS detectadas por eletroforese qualitativa, 22 (95,6% foram detectadas pelo teste de solubilidade e 20 (86,9% pelo de gel-centrifugação. CONCLUSÃO: A eletroforese de hemoglobinas representou a melhor metodologia na identificação de hemoglobinas variantes e, portanto, deve ser valorizada quando se trata de diagnóstico para triagens em bancos de sangue pelo seu grau de sensibilidade, minimizando ao máximo os resultados falsos negativos e garantindo a qualidade do sangue que estará sendo utilizado.INTRODUCTION: The sickle cell trait is the presence of hemoglobin S (HbS in heterozygosity. According to RDC regulation 153/04, abnormal hemoglobin screening has become mandatory in blood donation samples since June 2004. OBJECTIVE: The aim of this study was to compare different screening methods used in blood banks for HbS detection. Material and method: From April 2007 to April 2008, three HbS detection methods were applied in 4,108 suitable blood samples from the blood bank of the University Hospital of Santa

  14. Caraterização molecular e funcional de variantes alfa de hemoglobina identificadas no Centro Hospitalar e Universitário de Coimbra

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    Gameiro, Mariline da Silva

    2012-01-01

    Dissertação de mestrado em Bioquímica apresentada ao Departamento Ciências da Vida da Faculdade de Ciências e Tecnologia da Universidade de Coimbra, realizada sob a orientação de Maria Celeste Sena São Miguel Bento Lago de Queiroz e Ângelo José Ribeiro Tom. A hemoglobina é uma proteína tetramérica constituída por dois pares de cadeias globínicas e quatro grupos heme. A sua principal função é realizar o transporte de moléculas de oxigénio dos pulmões para os restantes tecidos do corpo...

  15. Variação Polimórfica de Hemoglobinas em Búfalos (Bubalus bubalis

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    Paulo Roberto Rodrigues Ramos

    1997-04-01

    Full Text Available In the present report the biochemical polymorphism of hemoglobins in 96 Indian buffaloes from different breed groups of Murrah, Jafarabadi and Mediterranean races reared in the experimental farm Lageado - UNESP - Botucatu, State of São Paulo was studied. Hemoglobins variants were identified through agarstarch gel electrophoresis, in discontinuous buffer system, pH 8.6. Animals showing one fast band (A, were considered AA (4.4%; buffaloes with two bands (A, and A2 were considered AB (31.87% when A2 was weak and BB (31.87%, when A2 was strong. A third band was detected, named N. Phenotypes with three bands with the respective frequencies: ABN (3.3% and BBN (30.77%. Densitometric analyses and the lack of AAN phenotype drove us to conclude that, in some way, the mutant (3 chains synthesis that originated N band was related probably to a" allele. Probably, the high frequency of N band was due to the intensive use of few breeders.

  16. Las variantes genéticas asociadas con niveles de hemoglobina fetal señalan diversos orígenes étnicos en pacientes colombianos con anemia falciforme

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    Cristian Fong

    2015-09-01

    Full Text Available Introducción. La hemoglobina fetal es un importante factor modulador de la gravedad de la anemia falciforme, cuya expresión está muy condicionada por el factor genético. Los loci asociados con el incremento de la hemoglobina fetal pueden presentar frecuencias alélicas específicas para cada población. Objetivo. Investigar la presencia y el efecto de las variantes genéticas rs11886868, rs9399137, rs4895441 y rs7482144 asociadas con la persistencia de hemoglobina fetal, en 60 pacientes colombianos con anemia falciforme. Materiales y métodos. Se hizo la genotipificación de los polimorfismos de nucleótido simple (Single Nucleotide Polymorphisms, SNP mediante la técnica de polimorfismos de longitud de fragmentos de restricción (Restriction Fragment Length Polymorphisms, RFLP y el procedimiento TaqMan. La hemoglobina fetal (HbF se cuantificó utilizando la técnica de desnaturalización alcalina de la oxihemoglobina. Las frecuencias genotípicas se compararon con las reportadas en poblaciones de referencia global. Resultados. Se observaron variantes genéticas ya reportadas para aumento de HbF en los cuatro SNP. La asociación genética entre los SNP y el incremento de la HbF no alcanzó significancia estadística. La frecuencia de estos alelos reflejó la siguiente composición específica en esta muestra de pacientes colombianos: una gran prevalencia de rs7482144-‘A’, lo que indica que el origen de la mutación para la anemia falciforme es África occidental, y una gran frecuencia de rs4895441-‘G’ y rs11886868-‘C’, lo que denota la influencia significativa del origen genético amerindio. Conclusión. Los resultados evidenciaron que la población con anemia falciforme de Colombia no tiene un único origen genético, sino que existen dos (africano y amerindio. Esta situación genética única ofrece la oportunidad de llevar a cabo un estudio más amplio de estos loci a nivel molecular. Se espera que el estudio de pacientes

  17. Hemoglobinas anormais e dificuldade diagnóstica Abnormal hemoglobins

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    Guilherme G. Leoneli

    2000-12-01

    Full Text Available As hemoglobinas humanas, com padrão de herança definido geneticamente, apresentam variações polimórficas características dentro de nossa população, na dependência dos grupos raciais que formam cada região. Aparecem sob a forma de variantes de hemoglobinas ou talassemias, sendo mais freqüentes, no Brasil, os tipos variantes S e C e as talassemias alfa e beta, todas na forma heterozigota. Durante o ano de 1999, amostras de sangue de 506 indivíduos com anemia a esclarecer ou que já passaram por alguma triagem de hemoglobinopatias foram encaminhadas ao Centro de Referência de Hemoglobinas da UNESP, para confirmação diagnóstica e submetidas a procedimentos eletroforéticos, análises bioquímicas e citológicas, para caracterização das hemoglobinas anormais. O objetivo do presente estudo foi verificar quais tipos de hemoglobinas anormais apresentam maior dificuldade diagnóstica. As amostras foram provenientes de 24 cidades de doze estados. Os resultados mostraram que 354 indivíduos (69,96% apresentaram hemoglobinas anormais, sendo 30 Hb AS (5,93%, 5 Hb AC (0,98%, 76 sugestivos de talassemia alfa heterozigota (15,02%, 134 sugestivos de talassemia beta heterozigota (26,48% e 109 com outras formas de hemoglobinas anormais (21,54%, que incluem variantes raras e interações de diferentes formas de talassemias e hemoglobinas variantes. Concluiu-se que, apesar da melhoria técnica oferecida atualmente e a constante formação de recursos humanos capacitados, as talassemias em sua forma heterozigota (210 indivíduos -- 41,50% são responsáveis pela maior dificuldade diagnóstica, seguido da caracterização de variantes raras e formas interativas de hemoglobinopatias (109 indivíduos -- 21,54%, sugerindo que se deve aumentar a capacidade de formação de pessoal e as informações a respeito destas alterações genéticas em nossa população.The human hemoglobins, with genetically defined inheritance patterns, have shown

  18. Correlação entre os índices dopplervelocimétricos da veia cava inferior e ducto venoso e a concentração de hemoglobina do cordão em fetos de gestantes isoimunizadas

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    Taveira Marcos Roberto

    2003-01-01

    Full Text Available OBJETIVO: o objetivo principal desse estudo foi verificar se existe correlação entre os índices dopplervelocimétricos da veia cava inferior e do ducto venoso e a concentração sérica da hemoglobina fetal. MÉTODOS: estudo transversal e prospectivo, realizado entre janeiro de 1998 e junho de 2001. Foram acompanhadas 31 gestantes isoimunizadas com resultado do teste de Coombs indireto maior que 1:8, que foram submetidas à pesquisa de hemólise fetal. Quando foram indicadas as transfusões intra-uterinas intravasculares, a hemoglobina do cordão foi dosada no início do procedimento. Nos demais casos, a hemoglobina do cordão foi mensurada no momento do parto, sempre por cesariana eletiva. Obteve-se um total de 74 procedimentos estudados, definidos como sendo cada transfusão intra-uterina precedida pela dopplervelocimetria venosa. A mensuração da concentração da hemoglobina fetal foi realizada no Hemocue® (B-Hemoglobin Photometer Hemocue AB; Angelholm, Sweden, dispositivo usado para a determinação quantitativa de hemoglobina no sangue. A dopplervelocimetria da cava inferior e do ducto venoso foi realizada antecedendo a coleta do sangue fetal, sempre em intervalo de tempo inferior a 24 horas. Os índices dopplervelocimétricos estudados foram o índice de pulsatilidade para veias (IPV, o índice do pico de velocidade para veias (IPVV e a relação entre o pico de velocidade durante a fase de contração atrial e o pico de velocidade na sístole ventricular (relação CA/SV ou índice de pré-carga, na veia cava inferior, e o IPV, IPVV e a relação entre os picos de velocidade da sístole ventricular e da contração atrial (relação SV/CA, no ducto venoso. Foi realizado estudo de correlação entre a dopplervelocimetria da veia cava inferior e do ducto venoso e a hemoglobina do cordão, pela técnica de regressão linear simples. Realizou-se também estudo de associação entre os índices dopplervelocimétricos do compartimento

  19. Hemoglobina Köln diagnosticada em programa de triagem neonatal em São José do Rio Preto, SP Köln Hemoglobin found in Neonatal Screening Program in São José do Rio Preto, São Paulo, Brazil

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    Emanuele C. Schiaveto

    2002-03-01

    Full Text Available Alterações genéticas em que a mutação de aminoácidos nas globinas afeta a estrutura da molécula tornando-a instável são classificadas como hemoglobinas instáveis. Devido à grande diversidade dos pontos de mutações por substituições e deleções de aminoácidos, as formas de instabilização se apresentam muito variadas. A hemoglobina Köln é a variante instável descrita com maior freqüência na literatura e a terceira descoberta no Brasil, as outras são Hb Niterói e Hb Hasharon. Anemia moderada, icterícia e presença de urina escura caracterizam as manifestações clínicas da Hb Köln. Em programa de triagem neonatal identificamos uma criança com suspeita de heterozigose para hemoglobina Köln, confirmada por procedimentos eletroforéticos e HPLC. Avaliações por diferentes metodologias laboratoriais e estudo familiar auxiliam no diagnóstico precoce, possibilitando minimizar os sintomas decorrentes da hemoglobina anormal e a realização do aconselhamento genético e educacional destas alterações hereditárias.Hemoglobinopathies are a diverse group of inherited recessive disorders that include thalassemias and sickle cell disease. They were the first genetic diseases to be characterized at the molecular level and consequently have been used repeatedly as a prototype for the development of new techniques of mutation detection. A major group of the structural hemoglobins exhibit the property of instability in solution, resulting from their altered molecular structures. Mutation of amino acids in the globin affects the structure of the molecule turning it unstable and they are classified as unstable hemoglobins. Due to the great diversity of the mutation points, substitutions and deletions of amino acids, the unstable forms are very varied. Hemoglobin Köln is the unstable variant most described in literature and the third discovered in Brazil, the others are Hb Niterói and Hb Hasharon. Moderate anemia, jaundice and the

  20. Avaliar a correlação entre a concentração da hemoglobina e a medida ecográfica do diâmetro biventricular externo em fetos anêmicos de gestantes isoimunizadas

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    Rodrigues Rosangela Lopes Miranda

    2005-01-01

    Full Text Available OBJETIVO: Verificar se existe correlação significativa entre a medida ecográfica do diâmetro biventricular externo e a concentração sérica da hemoglobina fetal pré-transfusional e se essa medida ecográfica poderá vir a ser utilizada como marcador não invasivo da anemia fetal. MÉTODOS: Estudo transversal prospectivo, no qual foram selecionadas 65 cordocenteses realizadas em 36 fetos anêmicos de mães portadoras de isoimunização pelo fator Rh. Obteve-se a medida do diâmetro biventricular externo (DBVE, por meio do modo M, utilizando-se aparelho de ultra-som convencional. Anterior à transfusão foi obtida amostra de 0,5ml de sangue fetal, para dosagem da hemoglobina, sendo a medida imediatamente realizada através de espectrofotometria, no equipamento Hemocue®. Como análise estatística foi utilizada a regressão dos mínimos quadrados, aceitando-se p<0,05 e análise multivariada. RESULTADOS: Foram observadas correlação inversa entre a concentração da hemoglobina no sangue fetal no momento prévio à transfusão e a medida do DBVE e correlação direta entre a medida do DBVE e a idade gestacional, e, também, através da análise multivariada que, à medida que a concentração de hemoglobina fetal cai, o DBVE aumenta, independentemente da influência da idade gestacional nesse parâmetro. CONCLUSÃO: Existe correlação inversa entre a concentração da hemoglobina no sangue fetal e a medida do DBVE, independente da idade gestacional. Os achados sugerem que o DBVE poderá vir a ser um marcador ecográfico de predição do nível de hemoglobina de fetos de gestantes isoimunizadas.

  1. DIABETES MELLITUS: AVALIAÇÃO E CONTROLE ATRAVÉS DA GLICEMIA EM JEJUM E HEMOGLOBINA GLICADA

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    Rodrigo Cimino Sá

    2014-08-01

    Full Text Available O Diabetes mellitus é desencadeado quando a produção ou ação de insulina tornam-se deficientes gerando sintomas e complicações crônicas sérias, tratando-se atualmente de um problema de saúde pública mundial. O objetivo foi realizar estudo das concentrações séricas das glicemias em jejum, A1C e estimativas dos níveis de glicose média baseados nos valores da A1C de pacientes diabéticos atendidos em um laboratório do município de São José dos Campos-SP. Durante o período de setembro a outubro de 2012, foram analisados os resultados dos exames de glicemia em jejum e A1C de 3.149 pacientes na faixa etária entre 30 a 69 anos, e com base nessas informações calculou-se a glicose média estimada de cada paciente através da equação: 28,7 × A1C - 46,7. Pacientes não-diabéticos foram 62,2%, de risco ou pré-diabéticos 11,2% e diabéticos 26,6%. Discussão. No grupo de diabéticos, os valores da glicemia em jejum, A1C e glicose média calculada se correlacionaram, demonstrando que quanto maiores as taxas da glicemia em jejum, maior será a estimativa da glicose média e, consequentemente, o nível de A1C. A média dos níveis glicêmicos entre 100 a 125 mg/dL deve ser uma meta aos pacientes diabéticos, condição fundamental na prevenção de riscos e complicações inerentes à doença.

  2. Concentração de hemoglobina e anemia em crianças no Estado de Pernambuco, Brasil: fatores sócio-econômicos e de consumo alimentar associados

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    Oliveira Maria Alice Araújo

    2006-01-01

    Full Text Available Este estudo teve como objetivo avaliar a associação entre a concentração de hemoglobina e prevalência de anemia com variáveis sócio-econômicas e de consumo alimentar. O estudo seccional, realizado em Pernambuco, Brasil, no ano 1997, utilizou a amostragem em três estágios. A amostra compreendeu 746 crianças de 6-59 meses, nas quais foram realizados dosagem de hemoglobina e inquérito dietético recordatório de 24 horas. A prevalência de anemia foi de 40,6%, sendo maior no Interior Rural e diminuindo com o aumento da idade, da renda e da escolaridade materna. A maioria das crianças (88,9% consumia leite de vaca. A anemia apresentou tendência de aumento com a elevação da proporção de calorias do leite e de redução com o aumento da densidade de ferro (total, heme e não-heme. A idade da criança, a área geográfica, a renda familiar per capita, a escolaridade materna, a densidade de ferro e a proporção de calorias do leite de vaca na dieta são fatores determinantes da anemia no grupo estudado.

  3. Níveis séricos de hemoglobina em adolescentes segundo estágio de maturação sexual Hemoglobin serum levels in adolescents according to sexual maturation stage

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    Maria Fernanda Petroli Frutuoso

    2003-06-01

    Full Text Available A adolescência constitui etapa de risco para o desenvolvimento da anemia ferropriva, uma vez que ocorre aumento da necessidade de ferro decorrente do crescimento estatural e da maturação biológica. Estudaram-se 130 adolescentes, de ambos os sexos, para verificar os valores de hemoglobina sérica em diferentes fases de maturação sexual. Utilizou-se o método de fotometria para dosar a hemoglobina sérica e realizou-se auto-avaliação do estágio de maturação sexual com base nos critérios de Tanner. Os níveis médios de hemoglobina foram semelhantes entre sexos, bem como entre meninas que menstruavam ou não. O nível médio de hemoglobina foi de 13,3g/dL tanto para os meninos como para as meninas (p=0,64, com desvios-padrão de 1,12 e de 0,83, respectivamente. Entre os adolescentes estudados, 7,7% tinham anemia ferropriva. Recomenda-se atenção ao grupo de adolescentes, devido ao aumento da necessidade de ferro durante o estirão de crescimento, principalmente entre as meninas, aumentando a suscetibilidade à anemia.During adolescence, the risk of development of iron-deficiency anemia is higher because of the growth spurt and the sexual maturation which increase the iron requirement. One hundred and thirty adolescents (males and females were studied, in order to assess the serum hemoglobin values in different sexual maturation stages. The photometric method was used and a self-evaluation of the sexual maturation stage based on Tanner's criteria was applied. The average hemoglobin values were similar for both sexes, as well for girls who had menstruated or not. The average hemoglobin values were 13.3 (s.d. 1.12g/dL for males and 13.3 (s.d. 0.83g/dL for females (p=0.64. Among the studied adolescents, 7.7% had iron-deficiency anemia. Due to the iron requirement increase during the growth spurt, mainly in females, and the higher susceptibility to iron deficiency anemia, special attention to the adolescents is recommended.

  4. Determinação de HbA1c por CLAE: interferência de variantes de hemoglobinas S e C e alta concentração de HbF HbA1c determination by HPLC: interference of hemoglobin variants HbS, HbC and HbF high concentration

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    Maria das Graças Santos Menezes

    2012-10-01

    Full Text Available INTRODUÇÃO: O diabetes mellitus (DM é considerado um problema importante de saúde pública; possui prevalência elevada e nos últimos anos observa-se aumento progressivo na sua incidência. OBJETIVO: verificar possíveis variações na concentração de hemoglobina (Hb glicada (HbA1c na presença de Hbs S e C e avaliar o impacto da redução da HbA1c na avaliação clínica e no monitoramento do paciente diabético. MATERIAL E MÉTODOS: Foram incluídos no estudo, 150 indivíduos diabéticos oriundos da cidade de Salvador, Bahia, de ambos os gêneros, com idade média de 56 anos. Foram determinadas a glicemia de jejum e a HbA1c por metodologia de oxidase-peroxidase e cromatografia líquida de alta eficiência (CLAE, respectivamente. RESULTADOS: Foram observadas variações na concentração da HbA1c em função da presença de variantes de Hb, como 7,85%, AA; 7,30%, AS e 7,15%, AC. DISCUSSÃO E CONCLUSÃO: A metodologia analítica a ser utilizada para determinação de HbA1c deve ser escolhida com base nas características gerais da população atendida e nas comorbidades associadas, pois a presença de Hbs S e C ocasiona reduções significativas de glicação. Essa redução pode levar a interpretações clínicas inadequadas relativas ao controle glicêmico dos pacientes.INTRODUCTION: Diabetes mellitus (DM is considered an important public health problem. It is highly prevalent and its incidence has progressively increased in recent years. OBJECTIVE: To verify possible variations of glycated hemoglobin (HbA1c concentration in the presence of Hb S and Hb C and to evaluate the impact of HbA1c reduction on clinical evaluation and monitoring of diabetic patients. MATERIAL AND METHODS: This study comprised 150 diabetic individuals from Salvador city, Bahia, from both genders and average age of 56 years old. Fast blood glucose and HbA1c were determined by oxidase-peroxidase and high-performance liquid chromatography (HPLC methods, respectively

  5. Analise molecular de deficiencias genicas associadas a persistencia hereditaria de hemoglobina fetal e delta beta talassemias

    OpenAIRE

    Tiago Gomes de Andrade

    2002-01-01

    Resumo: Persistência Hereditária de Hemoglobina Fetal (PHHF) consiste num grupo heterogêneo de desordens hereditárias, clinicamente benignas, onde ocorrem falhas na mudança perinatal normal de hemoglobina fetal para hemoglobina adulta, resultando em altos níveis de Hb F durante a vida adulta. Suas alterações moleculares correspondem a desordens no grupo de genes p, sendo divididas em duas categorias: as formas delecionais e as substituições de um nuc1eotídeo. Um total de seis delecões relacio...

  6. Orientação para aplicação de sais de ferro, em gestantes, segundo o uso de curva operacional de hemoglobina ("Curva de uma grama" The use of an hemoglobin operational curve ("One gram curve" for the iron therapy of pregnant women

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    Cyro Ciari Jr.

    1973-12-01

    Full Text Available Através das dosagens de hemoglobina realizadas em várias épocas da gravidez, em 553 gestantes, retiradas por amostragem casual simples de um universo de 8120 gestantes no período de 1947 a 1971, testou-se a aplicabilidade da curva de hemoglobina e sua importância em relação ao diagnóstico, conduta e controle do tratamento de pacientes com anemia ferropriva.Through hemoglobin determinations carried out in several phases of pregnancy, in 553 pregnant women casually chosen out of a number of 8120 within the period of 1947 to 1971, it was tested the feasibility of the hemoglobin curve previously constructed and its importance regarding diagnosis and control of treatment in patients with iron deficiency anemia.

  7. Dietary intake, <em>FTO> genetic variants and adiposity

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    Qi, Qibin; Downer, Mary K; Oskari Kilpeläinen, Tuomas

    2015-01-01

    between the FTO rs9939609 variant (or a proxy) and total energy and macronutrient intake; and 2) the interaction between the FTO variant and dietary intake, and the effect on BMI. We found that the BMI-increasing allele (minor allele) of the FTO variant was associated with increased total energy intake...

  8. Triagem de hemoglobinopatias e avaliação da degeneração oxidativa da hemoglobina em trabalhadores portadores do traço falciforme (HbAS, expostos a riscos ocupacionais Screening of abnormal hemoglobin and the evaluation of oxidative degeneration of hemoglobin among workers with the sickle cell trait (HbAS, exposed to occupational hazards

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    Isaac L. Silva Filho

    2005-09-01

    Full Text Available Desde os anos 40, quando foram realizados os primeiros trabalhos de triagem para hemoglobinas anormais na população brasileira, tem sido descrita uma elevada prevalência destas em nosso meio, especialmente a hemoglobina S que, a despeito da heterogeneidade de sua distribuição geográfica, quase sempre é a mais freqüente nas diversas regiões estudadas. Aliado a este fato, estudos recentes têm demonstrado uma maior susceptibilidade desta a oxidação, tornando-a mais sensível ao estresse oxidativo que a hemoglobina normal (HbAA, mesmo em se tratando de portadores heterozigotos (HbAS. Tendo em vista que algumas substâncias químicas são comprovadamente meta-hemoglobinizantes, que alguns fatores ambientais podem influenciar na morbidade da anemia falciforme e também o pouco e controverso conhecimento de que se dispõe a respeito de portadores do traço falciforme, este estudo, além da pesquisa de hemo-globinas anormais, avaliou também a degeneração oxidativa da hemoglobina, através da pesquisa de corpos de Heinz e dosagem de meta-hemoglobina em uma população de trabalhadores portadores do traço falciforme, expostos a riscos ocupacionais. Foram triadas 2.190 amostras sangüíneas entre Outubro de 1999 e Dezembro de 2001. A população estudada foi constituída de trabalhadores de ambos os sexos com idades variando entre 18 e 76 anos. Os resultados evidenciaram 4,7% portadores de hemoglobinas anormais na população analisada, sendo que a hemoglobina S foi a mais freqüente - 3,2% (71. Trabalhadores portadores do traço falciforme apresentaram uma chance 14 vezes maior de possuírem valores aumentados de meta-hemoglobina em relação aos trabalhadores com genótipo AA, porém, esta diferença não foi estatisticamente significativa.Hemoglobinopathies are frequent hereditary diseases in Brazilian population and have been a public health problem. This study reports the screening of abnormal hemoglobin among Fiocruz`s employees, as

  9. Manuseio de grave diminuição de hemoglobina em paciente jovem, testemunha de Jeová, submetido à proctocolectomia total: relato de caso Manoseo de grave disminución de hemoglobina en paciente joven, testigo de Jehová, sometido a la proctocolectomia total: relato de caso Extreme intraoperative hemodilution in Jehovah’s witness patient submitted total proctocolectomy: case report

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    Luiz Eduardo Imbelloni

    2005-10-01

    Full Text Available JUSTIFICATIVA E OBJETIVOS: Os riscos de transfusão homóloga de sangue são bem conhecidos e alguns pacientes recusam esta transfusão por motivos religiosos. O objetivo foi relatar um caso de proctocolectomia total em Testemunha de Jeová onde o nível de hemoglobina foi de 4 g/dL. RELATO DO CASO: Paciente do sexo masculino, 17 anos, história de polipose intestinal familiar. Iniciada aos oito anos, caracterizada por sangramento. Aos 13 anos colectomia total. Aos 17 anos proctocolectomia total. Preparado com eritropoietina, ácido fólico, infusão de ferro e vitamina B12. Hemograma revelou: hemácias 4.200.000/mm³, hemoglobina 10,5 g/dL e hematócrito de 37%. Plaquetas 273.000/mm³, tempo de protrombina normal. Monitorização com PANI, oximetria de pulso, capnografia e ECG continuamente. Anestesia com propofol, sufentanil, pancurônio e enflurano em circuito fechado. Infusão de 7.000 mL de solução de Ringer com lactato e 150 mL de albumina humana a 20%. Diurese de 2.900 mL. Duração de 10 horas e 30 minutos. Na UTI Ht de 20%, hemácias 2.300.000/mm³, Hb de 4,2 g/dL e mantido com propofol e atracúrio. Exame no dia seguinte revelou: Ht de 18%, hemácias de 2.050.000/mm³, Hb de 4 g/dL. Extubado 18 horas após o término da cirurgia. Segundo dia encaminhado para o quarto. Quarto dia iniciada alimentação por via oral. Alta hospitalar no décimo dia de PO. No 30º PO Ht de 35%, hemácias de 4.000.000/mm³ e Hb de 9,5 g/dL. Seis meses após, fechamento da ileostomia. Submetido a 12 cirurgias sem transfusão sangüínea. CONCLUSÕES: Um planejamento de toda a equipe (clínico, cirurgião, anestesiologista e médicos de terapia intensiva permite realizar procedimentos cirúrgicos associados com importantes perdas sangüíneas, sem administração de sangue.JUSTIFICATIVA Y OBJETIVOS: Los riesgos de transfusión homóloga de sangre son bien conocidos y algunos pacientes recusan esta transfusión por motivos religiosos. El objetivo fue relatar

  10. Estudo de polimorfismos associados ao aumento da expressão de Hemoglobina Fetal (HbF)

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    Pereira, Clara Inês Antunes

    2013-01-01

    Dissertação de mestrado em Biologia, apresentada ao Departamento Ciências da Vida da Faculdade de Ciências e Tecnologia da Universidade de Coimbra. Hemoglobinopatias devidas a mutações no gene β-globínico são responsáveis por doenças monogénicas muito comuns no mundo, nomeadamente drepanocitose e β-talassemia. A forma de hemoglobina presente em maiores concentrações no adulto (cerca de 95%) é a hemoglobina A (HbA; α2β2), estando presentes em menor percentagem a hemoglobina A2 (HBA2; α2δ...

  11. Aleitamento materno e níveis de hemoglobina em crianças menores de 2 anos em município do estado de São Paulo, Brasil Breastfeeding and hemoglobin concentration in children under 2 years of age in a municipality of São Paulo, Brazil

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    Luciane Simões Duarte

    2007-04-01

    Full Text Available OBJETIVO: Avaliar a relação entre aleitamento materno e níveis de hemoglobina em crianças menores de 2 anos residentes na cidade de Itupeva, SP, Brasil. MÉTODOS: Estudo transversal de base populacional, realizado em amostra representativa de 254 crianças menores de 2 anos, selecionadas aleatoriamente na área urbana de Itupeva, SP, por procedimento de amostragem por conglomerados em 3 etapas. O aleitamento materno foi classificado utilizando-se as recomendações da Organização Mundial da Saúde e a hemoglobina foi determinada em hemoglobinômetro portátil (HemoCue. Para o diagnóstico, utilizou-se o ponto de corte de 11,0g/dL. RESULTADOS: A prevalência de anemia foi de 41,7%. Anemia foi mais freqüente entre os menores de 6 meses que não se encontravam em aleitamento materno (pOBJECTIVE: The objective of this study is to assess the relationship between breastfeeding and hemoglobin concentration in children under 2 years of age in Itupeva City, SP, Brazil. METHODS: This cross-sectional population-based study was carried out in a representative sample of 254 children under 2 years of age randomly selected in the urban area of Itupeva, SP. The sampling process was done in three stages. The recommendations made by the World Health Organization were used to classify breastfeeding. Hemoglobin concentration was measured by the cyanmethemoglobin method, using the HemoCue system and anemia was defined when hemoglobin concentration was below 11.0g/dL. RESULTS: The prevalence of anemia was 41.7%. Anemia was more frequent among children who were weaned before 6 months (p<0.05. The mean hemoglobin levels of breastfed children were significantly higher among children under 6 months (p<0.05. Children who were exclusively or predominantly breastfed in the first six months of life had higher mean hemoglobin levels than the remaining children (12.3g/dL versus 10.99g/dL; p=0.022. CONCLUSIONS: The results suggest that partial or total substitution of

  12. Prevalência de hemoglobina S em recém-nascidos de Fortaleza: importância da investigação neonatal The prevalence of hemoglobin S in newborns from Fortaleza, Brazil: the importance of neonatal research

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    Luciano Silveira Pinheiro

    2006-02-01

    Full Text Available OBJETIVOS: avaliar a prevalência de hemoglobina S (HbS, traços falciformes em recém-nascidos, por meio de investigação clínico-laboratorial. MÉTODOS: foi elaborado protocolo que estabelece a coleta de 10 ml de sangue de segmento de cordão umbilical, após ser ligado e seccionado pelo obstetra em seguida ao parto, sendo as amostras introduzidas em um tubo contendo EDTA a 5% e submetidas a estudo cromatográfico líquido de alta resolução (high-performance liquid chromatography. Preenchia-se também protocolo clínico mediante entrevista com a puérpera, analisava-se o seu prontuário e efetuava-se o exame físico do recém-nascido. As variáveis analisadas foram peso do recém-nascido, sexo, Apgar no primeiro minuto e cor da mãe. A análise estatística foi baseada no programa Epi-Info versão 6.0, utilizando-se o teste t de Student, considerando-se o nível de significância de pPURPOSE: to evaluate the prevalence of hemoglobin S (HbS in newborns, through clinical investigation and laboratory data. METHODS: a protocol established the drawing of 10 mL blood from the umbilical cord after its ligature and section, immediately after birth. The samples were kept in a tube with 5% EDTA and then submitted to high-performance liquid chromatography. The study included a clinical record taken from an interview with the mother, her physical and biochemical condition, as well as that of her newborn. Main criteria were newborn's weight, sex, first minute Apgar, and the mother's color. Statistical analysis was based on the Epi-Info 6.0 program and performed by Student's t test, with the level of significance set at p<0.05. RESULTS: from August 2001 to September 2002, 389 umbilical cord blood samples showed HbS in 16 newborn babies (4.1%. Fifteen of these presented sickle-cell traits (HbS and the other had a diagnostic hypothesis of sickle-cell anemia (HbSS. Hemoglobinopathy prevailed among male babies. No significant difference was observed between

  13. Haemoglobin polimorphism in sheep (“Ovis aries”, L.: evaluation of genotype and frequency of animals breeder in Bahia State, Brazil Polimorfismo da hemoglobina de ovinos ("Ovis aries", L.: determinação do tipo e da freqüência em animais criados no Estado da Bahia

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    Adriana da Silva Rodrigues Cavacanti

    2009-09-01

    Full Text Available The distribution of hemoglobin types was investigated in 296 blood samples of health sheep, included adult and young animal, breeder in Bahia State. In this study were included sheep of the Brazilian Native breed (BNB as Santa Inês (SI, Morada Nova (MN, Rabo Largo (RL and crossbred of Suffolk x Dorper and BNB x Dorper. Blood samples were collected by venipuncture of the jugular in tubes containing E.D.T.A. and the hemoglobin typing was performed by starch gel electrophoresis using Tris-EDTA-Borate (pH 9,5 as buffer solution. Two migrations bands associated to allele HbA and HbB were found, corresponding to the three genotypes: Hb-AA, Hb-AB and Hb-BB and the frequencies if the type observed were: Hb-AA 49,0% (145/296, Hb-AB 39,18% (116/296 e Hb-BB 11,82% (35/296. The sheep of the NBB (SI, RL and MN were found all Hb types identifield; in the Dorper breed only Hb-AA was observed and in the crossbreed wasn’t detected the Hb-BB. The gene frequency of the allelic HbA and HbB were, respectively 0,69 and 0,31. The fetal haemoglobin was no longer detectable in any sheep. The hemoglobin polymorphism occurred among the sheep being the homozygous genotypes Hb-AA predominant.Os tipos da hemoglobina de ovinos foram determinados colhendo-se 296 amostras de sangue de animais de raças criadas no Estado da Bahia, que incluiu machos e fêmeas; adultos e jovens. Foram utilizados ovinos das raças nativas Santa Inês (SI, Morada Nova (MN, Rabo Largo (RL, Dorper, de origem africana, bem como animais resultantes de cruzamento entre as raças nativas com a raça Suffolk e com a raça africana. As amostras sangüíneas foram colhidas por venipunção da jugular, em tubos contendo EDTA e a determinação dos tipos de hemoglobina foi realizada por meio da técnica de eletroforese alcalina em gel (pH 9,5. Dessas amostras avaliadas foram identificados três genótipos da hemoglobina: Hb-AA, caracterizada por uma banda lenta; Hb-BB, caracterizada pela presença da banda

  14. Efetividade de diferentes estratégias de intervenção com ferro nos níveis de hemoglobina e ferritina em escolares de Teresina, Piauí, Brasil Effectiveness of different iron supplementation strategies on hemoglobin and ferritin levels among schoolchildren in Teresina, Piauí State, Brazil

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    Marize Melo dos Santos

    2007-07-01

    Full Text Available O estudo avaliou o efeito das intervenções com sulfato ferroso e com ferro bisglicina quelato nas concentrações de hemoglobina e ferritina sérica em escolares de 7-11 anos, de ambos os sexos, de Teresina, Piauí, Brasil. Foi desenvolvido ensaio clínico-comunitário, randomizado, envolvendo 138 escolares, com níveis de hemoglobina 0,05 na comparação intergrupos. Nenhum impacto foi observado (p > 0,05 nas reservas corporais de ferro. Entretanto, escolares que apresentaram depleção das reservas corporais de ferro ( 0,05 entre os grupos de tratamento. Os resultados confirmam a efetividade das intervenções e ratificam o uso do esquema semanal com sulfato ferroso e com ferro bisglicina quelato no tratamento da deficiência do mineral e da anemia ferropriva.This study evaluated the effectiveness of supplementation with ferrous sulfate and iron bis-glycinate chelate on hemoglobin and serum ferritin levels among schoolchildren (7-11 years of both sexes. A randomized community-based trial including 138 anemic children (hemoglobin 0.05. No effect was observed on body iron for either intervention (p > 0.05. Children with depleted iron stores ( 0.05 was observed. The results confirm the effectiveness of the iron supplementation interventions and corroborate the use of iron salts or ferrous bisglycinate chelate on a weekly basis to overcome iron deficiency and anemia.

  15. Diagnóstico laboratorial de hemoglobinas semelhantes à HbS Laboratorial diagnosis for hemoglobin like HbS

    Directory of Open Access Journals (Sweden)

    Paula Juliana Antoniazzo Zamaro

    2002-01-01

    Full Text Available A hemoglobina S (HbS está presente na população brasileira com prevalência variável, dependente dos grupos raciais formadores de cada região. A migração eletroforética em pH alcalino apresenta similaridade com outras hemoglobinas, e estudos complementares para sua correta caracterização são necessários. No presente estudo objetivamos traçar um fluxograma com as metodologias disponíveis para a caracterização da hemoglobina S e das hemoglobinas que apresentam migração semelhante em pH alcalino. No período de janeiro a junho de 2000, analisamos amostras de sangue com suspeita de hemoglobina S encaminhadas ao Laboratório de Hemoglobinas da Unesp. Caracterizamos diferentes mutantes e formas interativas com hemoglobina S, por procedimentos eletroforéticos, em variados pH, análises citológicas e testes bioquímicos específicos. Os procedimentos de análise aplicados resultaram em orientação fornecida aos laboratórios de rotina sobre como proceder no diagnóstico laboratorial destas alterações de hemoglobina. Desta forma contribuímos para um melhor conhecimento sobre a variabilidade genética das hemoglobinas em nossa população, auxiliando no acompanhamento clínico e no aconselhamento genético das hemoglobinopatias com fisiopatologia relacionada à alteração.The hemoglobin S is presented at Brazilian population with variable prevalence dependent of constitutive racial groups in each region. The electrophoretic migration on alkaline pH showed similarities with another hemoglobins. Complementary studies to the correct caracterization becomes necessary. At the present study we aimed make a fluxogram with the avaliable methodologies for the caracterization of hemoglobin S and hemoglobins that present similar migration on alkaline pH. During the period of January to June, 2000, we had analised blood samples with suspicious hemoglobin S sent to the Laboratory of Hemoglobins, Unesp. Were caracterized different mutants and

  16. Fatores determinantes dos níveis de hemoglobina em crianças aos 12 meses de vida na Zona da Mata Meridional de Pernambuco Determinant factors of haemoglobin levels in 12 months old infants in the South of the Zona da Mata of Pernambuco

    Directory of Open Access Journals (Sweden)

    Ana Claudia V. M. de S. Lima

    2004-03-01

    Full Text Available OBJETIVOS: avaliar os fatores determinantes dos níveis de hemoglobina de crianças aos 12 meses de vida, em quatro municípios da Zona da Mata Meridional de Pernambuco. MÉTODOS: estudo transversal, realizado em uma sub-amostra de 245 lactentes, pertencentes a uma coorte de 652 crianças. A coleta de dados foi realizada no período de janeiro a agosto de 1999. RESULTADOS: a prevalência de anemia foi de 73,2%, sendo a média de hemoglobina de 9,8 g/dL (DP = 1,6 g/dL. A análise de variância apresentou uma associação estatisticamente significante entre níveis de hemoglobina e escolaridade materna, posse de televisão no domicílio, peso ao nascer, duração do aleitamento materno exclusivo, ocorrência de diarréia e estado nutricional segundo os índices peso/idade e comprimento/idade. A análise de regressão linear múltipla mostrou que as condições socioeconômicas, o peso ao nascer, a duração do aleitamento materno exclusivo e a ocorrência de diarréia tiveram um impacto significante na variação dos níveis de hemoglobina. CONCLUSÕES: os resultados confirmam ser a anemia um relevante problema de saúde pública, especialmente em lactentes, tendo múltiplos fatores que contribuem para o seu surgimento, sendo necessário, portanto, identificar os mais importantes para serem levados em consideração nos programas de saúde da criança.OBJECTIVES: to evaluate factors determining hemoglobin levels in 12 months old infants living in four small towns located in the South of Pernambuco. METHODS: a cross-sectional study conducted in a sub-sample of 245 infants belonging to a cohort of 652 children. Data collection was performed from January to August 1999. RESULTS: the prevalence of anemia was 73.2% and mean hemoglobin level 9.8 g/dL (SD = 1.6 g/dL. Variance analysis indicated a significant association between hemoglobin levels and maternal education, absence of a television set at home, birth weight, duration of exclusive breast

  17. Triagem neonatal para hemoglobinopatias: um estudo piloto em Porto Alegre, Rio Grande do Sul, Brasil

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    Liane Esteves Daudt

    Full Text Available Este estudo, tem como o objetivo determinar a freqüência das hemoglobinopatias em neonatos, que realizaram a coleta para o Teste de Triagem Neonatal para Distúrbios Metabólicos no Hospital de Clínicas de Porto Alegre. O método utilizado para a determinação das variantes da hemoglobina, foi eletroforese por focalização isoelétrica em amostra de sangue total, coletadas em papel filtro por punção do calcanhar. Para confirmação diagnóstica dos casos alterados, foram realizadas eletroforeses das hemoglobinas em acetato de celulose com pH 8,6 e em citrato de ágar com pH 6,2, em amostra de sangue total dos neonatos e dos seus progenitores. Foram analisados, 1.615 indivíduos, e identificada a presença da hemoglobina S em 20 amostras e da hemoglobina C em seis amostras. Esses valores, correspondem a uma freqüência de 1,2% para o gene da anemia falciforme e 0,4% para o gene da doença de hemoglobina C, independente da raça ou ascendência. Esses dados, sugerem que a inclusão da triagem neonatal universal para hemoglobinopatias nos projetos já implementados para fenilcetonúria e hipotireoidismo congênito, apresenta vantagens e deve ser considerada pelos programas de saúde.

  18. Estudo genético-epidemiológico da hemoglobina S em uma população do Sudeste do Brasil Genetic-epidemiological study of hemoglobin S in a population from Southeastern Brazil

    Directory of Open Access Journals (Sweden)

    Antonio S. Ramalho

    2008-04-01

    Full Text Available A anemia falciforme, expressão clínica dos homozigotos do gene da hemoglobina S, é a doença hereditária mais freqüente no Brasil. Apesar disso, a metodologia genético-epidemiológica raramente é usada nos estudos brasileiros sobre essa alteração. No presente estudo foram analisados, por meio de um software específico, os dados de 817 heterozigotos do gene da HbS (513 homens e 304 mulheres, não consangüíneos, com idades entre 18 e 65 anos, detectados voluntariamente na cidade de Campinas, SP, Sudeste do Brasil. A constituição genômica caucasóide, negróide e indígena foi avaliada na amostra de portadores da hemoglobina S através do estudo das freqüências alélicas do sistema sangüíneo ABO e comparada com a observada na população geral da mesma cidade. A análise dos dados demonstrou que 52% dos portadores da HbS tiveram sua ancestralidade africana evidenciada pelo seu fenótipo e que 36% dos indivíduos eram procedentes do Nordeste do Brasil, sobretudo da Bahia (15%. Essa imigração interna tende a diminuir a proporção do haplótipo Bantu da hemoglobina S (mais grave na região de Campinas, aumentando a proporção do haplótipo Benin (mais benigno. A amostra possui um componente gênico negróide de 45%, caucasóide de 41%, e indígena de 14%. Essa composição genômica é significativamente diferente da observada na população geral da mesma cidade, apresentando uma participação gênica maior de negróides e de indígenas (influência da imigração nordestina e menor de caucasóides. A imigração nordestina e a miscigenação alteraram significativamente o perfil genético-epidemiológico dos portadores da hemoglobina S na região de Campinas, SP.Sickle cell anemia, the clinical expression of individuals homozygous for the hemoglobin S gene, is the most frequent hereditary disease in Brazil. Nevertheless, a genetic-epidemiological approach is rarely used in Brazilian studies related to this alteration. In the

  19. Hemoglobinas anormales en la población neonatal de Costa Rica

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    Gabriela Abarca

    2008-09-01

    Full Text Available Se han analizado un total de 70 943 muestras de sangre total en papel filtro S&S 903 de neonatos de Costa Rica (octubre 2005 a Octubre 2006 con el fin de detectar variantes de hemoglobina mediante la técnica de isoelectroenfoque. Se detectaron 891 casos con alguna variante para una frecuencia de 1/79. Se clasifican 5 casos homocigotos para hemoglobina S (anemia drepanocítica o anemia falciforme y un caso doble heterocigoto para SC. En este estudio se demuestra que las variantes fenotípicas de hemoglobina S como la C, se encuentran distribuidas por todo el país con algunas diferencias locales, razón por la cual es importante que la prevención de nuevos casos se realicé a través de nuestro Programa Nacional de Tamizaje de Hemoglobinas junto con un Programa Nacional interdisciplinario de Educación para el portador del rasgo (AS/AC como, para el enfermo y su familia; al igual que la instauración de programas dirigidos a médicos generales y enfermeras en todas las regiones de salud del país, para asegurar consejo genético a portadores y enfermos, y a la vez, mejorar los sistemas de tratamiento a los pacientes para reducir la morbi -mortalidad.Abnormal haemoglobins in the newborn human population of Costa Rica. Hemoglobinopathies are hereditary autosomic recessive diseases. A total of 70 943 samples of whole blood collected by heel prick in filter paper (S&S 903 from throughout Costa Rica (October 2005-October 2006 were analyzed to detect variants of hemoglobin by the iso-electric focusing technique. Eight hundred ninety one cases presented some variant, for a frecuency of 1/79. Five cases are homozygous for hemoglobin S (sickle cell disease and one shows the double heterozygous genotype SC. in this study the S and C variants of hemoglobin, although with some local differences, are widespread all over the country. Thus, the prevention of new cases is important through the testing of hemoglobin in the Costa Rican National Newborn Screening

  20. <em>In vivoem> switching between variant surface antigens in human <em>Plasmodium falciparumem> infection

    DEFF Research Database (Denmark)

    Staalsoe, Trine; Hamad, Amel A; Hviid, Lars

    2002-01-01

    A semi-immune individual was retrospectively found to have maintained an apparently monoclonal and genotypically stable asymptomatic infection for months after clinical cure of a Plasmodium falciparum malaria episode. Before the attack, the individual had no antibodies to variant surface antigens...

  1. Formas variantes LOIRA ~ LOURA ~ LORA no português falado em Belo Horizonte

    OpenAIRE

    Pimentel, Patrícia de Cássia Gomes

    2015-01-01

    Este artigo visa ao estudo dos ditongos em variação oi ~ ou nas formas variantes LOIRA ~ LOURA do português brasileiro falado neste século, na cidade de Belo Horizonte. A partir da coleta de dados e elaboração de tabelas, bem como de testes de qui-quadrado, observou-se que há uma tendência à monotongação de [ou] entre os informantes, o que culmina na realização da variante LORA, e que a realização entre mulheres e homens, considerando o número total de realizações em cada grupo, é significati...

  2. Cadê e variantes: gramaticalização em língua portuguesa

    Directory of Open Access Journals (Sweden)

    Odete Pereira da Silva Menon

    2015-01-01

    Full Text Available A gramaticalização da frase “Que é feito de fulano?”, passando por “Que é de fulano?” resultou em “Que é de?”, seguida da contração entre a vogal do pronome e o verbo (que é > qué “Qu’é de?” > “Quede?”, forma contracta empregada por Sá de Miranda, nascido em 1481 (trata-se, portanto, de forma já em uso na segunda metade do século XV . Depois, esse quede adquire acento na última sílaba, provavelmente devido ao fato de ocorrer isolado, em fim de frase, na repetição enfática, onde recebe acento frasal (de intensidade três, contra a intensidade um, de vocábulo: “Quede o chapéu? Quedê?”. Por meio da retomada anafórica “Que é feito dele?”, reduzida para “Que é dele?”, resulta outra variante: quedele. Aparentemente, a variante cadê tem tido um uso mais corrente no Brasil, o que leva muita gente a afirmar que se trata de um brasileirismo. No entanto, as outras variantes – quede / quedê ou quedele / cadele – são empregadas em diferentes partes do país e algumas delas podem ser encontradas em textos do português europeu de diferentes épocas. The grammaticalization of the sentence “Que é feito de fulano?” became “Que é de fulano?” (“What about so-and-so?” “Where is so-and-so?” and resulted in “Que é de?”, followed by the contraction of the pronoun’s vowel and the verb (que é > qué “Qu’é de?” > “Quede?”, a contracted form used by Sá de Miranda, born in 1481 (it is, thus, a form currently used in the second half of the 15th century. Then, quede starts to be stressed in its last syllable, probably due to this being alone at the end of a sentence, in an emphatic repetition context, where it receives phrasal stress – whose intensity (3 is higher than that of a phonological word (1: “Quede o chapéu? Quedê?”. By the anaphora “Que é feito dele?” reduced to “Que é dele?”, which resulted in another variant: quedele. Apparently, the variant

  3. Efeito da suplementação com acerola nos níveis sangüíneos de vitamina C e de hemoglobina em crianças pré-escolares Supplementation with West Indian cherry and its effects on the blood levels of vitamin C and hemoglobin in preschool children

    Directory of Open Access Journals (Sweden)

    Maria José de Carvalho COSTA

    2001-04-01

    Full Text Available O estudo teve como objetivo avaliar a prevalência da deficiência de vitamina C em 104 crianças de 2 a 6 anos de idade de creches municipais de João Pessoa, PB, bem como analisar a eficácia da suplementação com acerola. Foram realizadas dosagens de vitamina C sérica e de hemoglobina antes e depois da intervenção. Os resultados iniciais mostraram prevalência de 69,2% de carência de vitamina C (The objective of this study was to evaluate the prevalence of vitamin C deficiency among 104 preschool children, aged 2 to 6 years, enrolled at municipal day-care centers in João Pessoa, PB, Brazil, and to test the efficacy of supplementing their diet with West Indian Cherry. Determinations of serum vitamin C and blood hemoglobin were carried out before and after supplementation. First results showed 69.2% of prevalence of vitamin C deficiency (<0.80 mg/dL and 35.7% of children with hemoglobin levels indicative of anemia (Hb <11.0 mg/dL; these two indicators were found to be associated (p < 0.01. Seventy-two children with low levels of vitamin C were offered, during 35 days, 150 mL of West Indian Cherry juice (mean content 565 mg of ascorbic acid/100 mL. Comparison of vitamin C levels before and after supplementation (0.52 + 0.20 mg/dL and 1.43 + 0.43 mg/dL respectively showed a significant difference (p<0.001. There was also a significant increase on the mean of hemoglobin concentration, which from 11.17+ 1.46 g/dL rose to 12.22 + 1.52 g/dL after the intervention (p<0.001. Considering the results presented here and the availability of the cherries at low cost in the region, this fruit juice should be included in all feeding programs for populations at risk of anemia.

  4. Malaria-induced acquisition of antibodies to <em>Plasmodium falciparumem> variant surface antigens

    DEFF Research Database (Denmark)

    Ofori, Michael F; Dodoo, Daniel; Staalsoe, Trine

    2002-01-01

    In areas of intense Plasmodium falciparum transmission, protective immunity is acquired during childhood in parallel with acquisition of agglutinating antibodies to parasite-encoded variant surface antigens (VSA) expressed on parasitized red blood cells. In a semi-immune child in such an area......, clinical disease is caused mainly by parasites expressing VSA not recognized by preexisting VSA-specific antibodies in that child. Such malaria episodes are known to cause an increase in agglutinating antibodies specifically recognizing VSA expressed by the parasite isolate causing the illness, whereas...

  5. Anemia intrahospitalaria y descenso de hemoglobina en pacientes internados

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    Carina V. Gianserra

    2011-06-01

    Full Text Available Es frecuente observar el desarrollo de anemia durante la internación, especialmente en pacientes graves. Esto se ha relacionado a extracciones de laboratorio. Pocos estudios evaluaron su prevalencia y factores asociados en pacientes internados en sala general. El objetivo fue determinar la prevalencia, características y factores clínicos asociados a anemia intrahospitalaria y descenso de hemoglobina en pacientes internados. Se efectuó un estudio transversal, prospectivo, descriptivo. Se analizaron 192 internaciones consecutivas en sala general. Se determinó aquellas que presentaron un descenso del valor de hemoglobina = 2 g/dl y se analizaron factores de riesgo asociados. Presentaron anemia 139 pacientes (72.4%, 89 (46.4% al ingreso y 50 (26% durante la internación. Se presentaron 47 casos de descenso de hemoglobina = 2 g/dl (24.47%, en los que se observaron los valores más bajos de hematocrito y hemoglobina al alta (p = 0.01, hidratación parenteral con mayor volumen (p = 0.01 y estadías hospitalarias más prolongadas (p = 0.0001. En el análisis univariado las variables leucocitosis = 11 000mm³ (OR; IC95%: 2.02; 1.03-4; p = 0.01, días de internación = 7 (OR; IC95%: 3.39; 1.62-7.09; p = 0.0006, hidratación parenteral = 1500 ml/día (OR; IC95%: 2.47; 1.06-6.4; p = 0.01, vía central (OR; IC95%: 10.29; 1.75-108.07, p = 0.003 y anemia intrahospitalaria (OR; IC95%: 7.06; 3.41-15.83; p = 0.00000004 fueron estadísticamente significativos como factores de riesgo para descenso de hemoglobina = 2 g/dl. En el análisis multivariado las variables leucocitosis = 11 000 mm³ (OR; IC95%:2.45; 1.14-5.27; p = 0.02; días de internación = 7 (OR; IC95%: 5.15; 2.19-12.07; p = 0.0002; hidratación parenteral = 1500 ml/día (OR; IC95%: 2.95; 1.13-7.72; p = 0.02 y vía central (OR; IC95%:8.82; 1.37-56.82; p = 0.02 fueron factores predictivos independientes de descenso de hemoglobina = 2 g/dl. La anemia intrahospitalaria tuvo una elevada prevalencia. La

  6. Polimorfismo da hemoglobina de bubalinos (Bubalis bubalis da raça Murrah criados no Estado de São Paulo, Brasil

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    A. M. F. Rosenfeld

    2006-03-01

    Full Text Available Os tipos de hemoglobina foram determinados em 41 amostras de sangue de bubalinos sadios da raça Murrah, criados no município de Roseira, no Estado de São Paulo, sendo cinco animais machos e 36 fêmeas. As amostras sangüíneas foram colhidas por venipunção da jugular, em tubos contendo EDTA e a determinação dos tipos de hemoglobina foi realizada pela técnica de eletroforese alcalina em acetato de celulose, utilizando-se o Tris-EDTA-Borato (pH 8,6 como solução tampão. Duas bandas de migração relativas aos alelos HbA e HbB foram observadas, identificando-se dois genótipos Hb-AA e Hb-AB e as suas freqüências na população avaliada foram: 95,1% dos bubalinos apresentaram o tipo heterozigoto Hb-AB e 4,9% o tipo homozigoto Hb-AA. O polimorfismo da hemoglobina foi observado nos bubalinos e o genótipo heterozigoto Hb-AB foi o mais freqüente.

  7. An EM algorithm based on an internal list for estimating haplotype distributions of rare variants from pooled genotype data.

    Science.gov (United States)

    Kuk, Anthony Y C; Li, Xiang; Xu, Jinfeng

    2013-09-13

    Pooling is a cost effective way to collect data for genetic association studies, particularly for rare genetic variants. It is of interest to estimate the haplotype frequencies, which contain more information than single locus statistics. By viewing the pooled genotype data as incomplete data, the expectation-maximization (EM) algorithm is the natural algorithm to use, but it is computationally intensive. A recent proposal to reduce the computational burden is to make use of database information to form a list of frequently occurring haplotypes, and to restrict the haplotypes to come from this list only in implementing the EM algorithm. There is, however, the danger of using an incorrect list, and there may not be enough database information to form a list externally in some applications. We investigate the possibility of creating an internal list from the data at hand. One way to form such a list is to collapse the observed total minor allele frequencies to "zero" or "at least one", which is shown to have the desirable effect of amplifying the haplotype frequencies. To improve coverage, we propose ways to add and remove haplotypes from the list, and a benchmarking method to determine the frequency threshold for removing haplotypes. Simulation results show that the EM estimates based on a suitably augmented and trimmed collapsed data list (ATCDL) perform satisfactorily. In two scenarios involving 25 and 32 loci respectively, the EM-ATCDL estimates outperform the EM estimates based on other lists as well as the collapsed data maximum likelihood estimates. The proposed augmented and trimmed CD list is a useful list for the EM algorithm to base upon in estimating the haplotype distributions of rare variants. It can handle more markers and larger pool size than existing methods, and the resulting EM-ATCDL estimates are more efficient than the EM estimates based on other lists.

  8. Status do ferro no atleta de canoagem durante a época desportiva : correlação com hemoglobina e massa magra

    OpenAIRE

    Lopes, Marta Sofia Ferreira Soares Borges

    2016-01-01

    Trabalho final de mestrado integrado em Medicina área cientifica de Medicina Desportiva, apresentado à Faculdade de Medicina da Universidade de Coimbra O ferro é um nutriente essencial tanto no transporte de oxigénio para os tecidos mediante a hemoglobina (Hb) como no metabolismo oxidativo do músculo esquelético (mioglobina). Assim, tendo em conta a elevada exigência desportiva dos atletas de alta competição, o défice de ferro é uma alteração importante para o atleta de alta compe...

  9. Peso corporal, indices cardiacos, hematocrito y hemoglobina en dos lineas comerciales de pavos

    National Research Council Canada - National Science Library

    Terry M., Veronica K; Figueroa T., Edgardo; Fuentes N., Nadia E; Ayon S., Milder; Guzman G., Jhon; Carcelen C., Fernando

    2012-01-01

    El presente estudio tuvo como objetivo comparar el peso corporal, asi como indices cardiacos, hematocrito y hemoglobina como indicadores de trabajo cardiaco de dos lineas de pavos de engorde criados a nivel del mar...

  10. Rompiendo un mito en el control de la hemoglobina/hematocrito postransfusion

    National Research Council Canada - National Science Library

    Pardo, Juan Mauricio; Panqueva Martinez, Uriel; Fernanda Espinosa, Angela

    2010-01-01

    Habitualmente se ha solicitado la hemoglobina/hematocrito despues de las seis horas como parametro para evaluar el resultado terapeutico de la transfusion sin que exista evidencia clara para hacerlo. Palabras clave...

  11. Influencia del hematocrito en el tiempo de relajacion de eritrocitos y soluciones de hemoglobinas

    National Research Council Canada - National Science Library

    Mengana-Torres, Yulianela; Fernandez-Garcia, Adolfo

    2012-01-01

    En este trabajo se hizo una evaluacion de la influencia del hematocrito en la preparacion de muestras de paquetes de globulos rojos y solucion de hemoglobinas para buscar la relacion de los parametros...

  12. Overlapping antigenic repertoires of variant antigens expressed on the surface of erythrocytes infected by <em>Plasmodium falciparumem>

    DEFF Research Database (Denmark)

    Giha, H A; Staalsoe, T; Dodoo, D

    1999-01-01

    genes and undergoes clonal variation. Using agglutination and mixed agglutination tests and flow cytometry to analyse the recognition of variant antigens on parasitized erythrocytes by plasma antibodies from individuals living in Daraweesh in eastern Sudan, an area of seasonal and unstable malaria...

  13. Primer caso de hemoglobina Köln (codon98 GTG>ATG) en Costa Rica

    OpenAIRE

    Walter Cartín; Carlos Suárez; Luis Mora; Kathia Valverde; Berta Valverde; Evan Jensen; Gabriela Abarca; Rafael Jiménez

    2010-01-01

    La exposición a ciertos medicamentos puede provocar anemia hemolítica con presencia de cuerpos de Heinz en sangre periférica. Esta anemia puede presentarse por sobredosis de medicamentos, tanto en individuos sanos como en personas con deficiencias enzimáticas como la glucosa-6-fosfato deshidrogenasa, o en presencia de hemoglobinas inestables. Este reporte muestra un caso de anemia hemolítica con cuerpos de Heinz, debido a la presencia de una hemoglobina inestable, cuyos estudios moleculares y...

  14. Genética molecular de las hemoglobinas bacterianas: estructura, regulación y función

    Directory of Open Access Journals (Sweden)

    Elizabeth Hernández Urzúa

    2004-01-01

    Full Text Available Las hemoglobinas se definen como aquellas hemoproteínas que unen reversiblemente el oxígeno. Estas proteínas se encuentran distribuidas en plantas, protozoarios, hongos y bacterias. Las hemoglobinas presentes en los microorganismos se han dividido en tres grupos. En el primer grupo se encuentran aquellas hemoproteínas que presentan un solo dominio con el grupo hemo, por ejemplo la hemoglobina de Vitreoscilla. En el segundo se encuentran aquellas hemoglobinas que presentan dos diferentes dominios, el primer dominio con el grupo hemo el cual es homólogo a la hemoglobina de Vitreoscilla y un segundo dominio con actividad de reductasa el cual es homólogo a la familia de las proteínas ferrodoxín NADP- reductasas (FNR, a éstas hemoglobinas se les conoce como flavohemoglobinas, un ejemplo es Hmp, la flavohemoglobina de Escherichia coli, ésta fue la primera flavohemoglobina estudiada a nivel molecular. En el tercer grupo se encuentran las hemoglobinas truncadas, éstas son proteínas pequeñas de 20 a 30 aminoácidos en donde se encuentra el dominio hemo. Poco se sabe acerca de la función de estas hemoglobinas, pero se ha reportado su participación en la protección y destoxificación del óxido nítrico.

  15. Cambios en las concentraciones de retinol, hemoglobina y ferritina en niños palúdicos colombianos

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    Rosa Magdalena Uscátegui

    2009-06-01

    Conclusión. El día 30, la hemoglobina y el retinol aumentaron, y la proteína C reactiva y la ferritina disminuyeron. El suplemento de retinol y antiparasitarios simultáneos previno la reducción de hemoglobina al día 8, sin afectar los cambios en otras variables.

  16. Influência do tipo de aleitamento materno e da presença de anemia na mãe na concentração de hemoglobina aos 6 meses de idade

    OpenAIRE

    Teixeira, Maria de Lourdes P. D.; Lira, Pedro I. C.; Coutinho, Sonia B.; Eickmann, Sophie H.; Lima, Marília de C

    2010-01-01

    OBJETIVO: Verificar a influência do tipo de aleitamento materno e da presença de anemia na mãe no nível de hemoglobina de lactentes aos 6 meses de idade. MÉTODOS: Estudo transversal, aninhado em estudo de intervenção de base comunitária, randomizado, controlado, que objetivou aumentar a duração do aleitamento materno exclusivo nos primeiros 6 meses de vida. O estudo foi realizado em quatro cidades do estado de Pernambuco, sendo os recém-nascidos recrutados no período de março a agosto de 2001...

  17. Hemoglobinas anormales en una población estudiantil universitaria

    OpenAIRE

    Sáenz, German F.; Arroyo, Guido; Alvarado, Ma. de los Ángeles; Montero, Gerardo; Jiménez, Javier; Valenciano, Eliécer

    2016-01-01

    Abnormal hemoglobins were found in 1.26% of 500 University of Costa Rica freshmen (1.06% A-S phenotype and 0.20% A-C) . An important factor is the discovery of 0.24% of abnormal hemoglobins, primarily due the S gene, in Caucasian Costa Rican students, or 0.5 % if three cases, apparently corresponding to a heterozygote beta thalassemia with a high F hemoglobin ( delta-beta variant), are included. Two asymptoma tic heterozygote phenotypes of persistent fetal hemoglobin (one in a white student a...

  18. Identificação de variantes somaclonais em bananeiras 'Prata Anã', utilizando técnicas moleculares e citogenéticas Identification of somaclonal variants in 'Prata Anã' banana using molecular and cytogenetic techniques

    Directory of Open Access Journals (Sweden)

    Nilson César Castanheira Guimarães

    2009-04-01

    Full Text Available Variação somaclonal é uma variação fenotípica de origem genética, ou seja, uma variação cromossômica que se torna herdável nas gerações seguintes, ou epigenética, que é uma variação transitória devido ao estresse fisiológico que o material sofre, quando submetido ao cultivo in vitro. Um problema específico envolvendo a variação somaclonal em bananeiras 'Prata Anã' foi observado em Andradas, Minas Gerais, em plantas oriundas de micropropagação. A maior dificuldade na separação dos indivíduos normais e variantes é que os caracteres morfológicos, que são inerentes a este tipo de variação, só se tornam evidentes quando a planta está adulta, o que impossibilita a eliminação dos indivíduos variantes ainda em viveiro. Com o objetivo de identificar, ainda em viveiro aqueles indivíduos variantes somaclonais, técnicas moleculares (RAPD e SSR e citogenéticas (contagem cromossômica e citometria de fluxo foram utilizadas. Cento e três primers RAPD, 11 combinações de dois primers RAPD, e 33 pares de primers SSR foram utilizados na tentativa de se encontrar marcadores polimórficos capazes de distinguir os indivíduos normais dos variantes, além de distinguir bananeiras 'Prata Anã' de 'Prata'. O primer OPW-08 gerou um fragmento polimórfico que distinguiu uma planta variante de todas as demais, provando que a variação não ocorre de maneira uniforme no genoma dos indivíduos variantes e que não há um retorno à cultivar Prata. As análises com marcadores SSR e a contagem cromossômica não possibilitaram a distinção dos indivíduos variantes, nem a separação das cultivares Prata e Prata Anã. As análises de citometria de fluxo evidenciaram a grande instabilidade cromossômica das bananeiras, porém elas não foram eficientes na identificação de variantes somaclonais.Somaclonal variation is a phenotypical variation of genetic origin, that is, a chromosomal variation that becomes inheritable in the

  19. Níveis de hemoglobina, aleitamento materno e regime alimentar no primeiro ano de vida Hemoglobin concentration, breastfeeding and complementary feeding in the first year of life

    Directory of Open Access Journals (Sweden)

    Ana Marlúcia Oliveira Assis

    2004-08-01

    Full Text Available OBJETIVO: Identificar a relação entre os níveis de hemoglobina e o consumo de leite materno, alimentos complementares e líquidos não nutritivos no primeiro ano de vida. MÉTODOS: Estudo transversal envolvendo 553 crianças menores de 12 meses de vida, que freqüentavam os serviços públicos de saúde. A concentração de hemoglobina foi avaliada pelo método cianometahemoglobina, usando-se o sistema HemoCue. Utilizou-se a técnica da regressão linear múltipla para avaliar as associações de interesse. RESULTADOS: Níveis de hemoglobina compatíveis com a anemia foram identificados em 62,8% das crianças investigadas, com maior ocorrência naquelas de seis a 12 meses de idade (72,6%. O aleitamento materno exclusivo nos primeiros seis meses de vida assegurou os mais elevados níveis de hemoglobina. Os demais regimes alimentares declinaram de maneira diferenciada os níveis de hemoglobina, que se tornaram compatíveis com a anemia quando o regime de aleitamento artificial foi adotado (p=0,009. O consumo de chá e/ou água declinou em 0,76 g/dl (pOBJECTIVE: To assess the relationship between hemoglobin concentration and breastfeeding and complementary feeding during the first years of life. METHODS: Cross-sectional study with 553 children under age 12 months, who attended public healthcare facilities. Hemoglobin concentration was measured by the cyanmethaemoglobin method, using the HemoCue system. Associations of interest were analyzed through multiple linear regression. RESULTS: Hemoglobin concentrations compatible with anemia were identified in 62.8% of the children studied, with greater occurrence among the 6-12 months age group (72.6%. Exclusive breastfeeding during the first six months of life was associated with the highest levels of hemoglobin. The remaining feeding regimes were associated with different levels of reduction in hemoglobin levels, which became compatible with anemia in children fed with formula (p=0,009. Tea and

  20. Amplificação gênica alelo-específica na caracterização das hemoglobinas S, C e D e as interações entre elas e talassemias beta Allele-specific genic amplification in the characterization of hemoglobins S, C, D and interactions among them and with beta thalassemia

    Directory of Open Access Journals (Sweden)

    Luciane Cristina Bertholo

    2006-08-01

    Full Text Available INTRODUÇÃO: As hemoglobinopatias resultam de alterações hereditárias, sendo prevalentes em muitas regiões do mundo, mas atingem a população brasileira de forma significativa. Elas são decorrentes de alterações em genes estruturais responsáveis pelo aparecimento das hemoglobinas variantes e/ou em genes reguladores, resultando nas talassemias. A identificação dessas patologias tem sido rotineiramente realizada por procedimentos eletroforéticos, contudo nossa experiência laboratorial evidencia que as mesmas nem sempre apresentam resoluções suficientes para a correta caracterização da mutação. CASUÍSTICAS E MÉTODOS: O propósito deste trabalho foi estabelecer uma metodologia válida para a caracterização das hemoglobinas S, C e D em homozigose ou heterozigose, e suas possíveis interações, baseada na amplificação gênica alelo-específica (PCR-AE com a utilização de primers sense, antisense e primers que se acoplam na posição do alelo mutante e na respectiva posição do alelo normal. RESULTADOS E DISCUSSÃO: Os resultados evidenciaram a validade dessa metodologia na caracterização das mutações, sendo esse procedimento de fácil realização, reprodutível e possível de ser aplicado em um significativo número de amostras.BRACKGROUND: The hemoglobinopathies are a group of hereditary hemoglobin disorders in worldwide distribution, affecting Brazilian population significantly; they are decurrent of alterations in structural genes, responsible for hemoglobin variants, and/or in regulatory genes, resulting the thalassemia. These disorders have been identified in most cases by electrophoretics procedures, and our laboratory experience points out that sometimes they do not obtain enough resolution for a right characterization of mutation. MATERIAL AND METHOD: The objective of this study was to establish a valid laboratory methodology for the characterization of hemoglobins S, C and D in homozygous or heterozygous and

  1. Níveis de hemoglobina, aleitamento materno e regime alimentar no primeiro ano de vida

    OpenAIRE

    Assis, Ana Marlucia de Oliveira; Gaudenzi, Edileuza Nunes; Gomes, Gecynalda; Ribeiro,Rita de Cássia; Szarfarc,Sophia Cornbluth; Souza, Sonia Buongermino de

    2004-01-01

    p.543-551,v.38,n.4 OBJETIVO: Identificar a relação entre os níveis de hemoglobina e o consumo de leite materno, alimentos complementares e líquidos não nutritivos no primeiro ano de vida. MÉTODOS: Estudo transversal envolvendo 553 crianças menores de 12 meses de vida, que freqüentavam os serviços públicos de saúde. A concentração de hemoglobina foi avaliada pelo método cianometahemoglobina, usando-se o sistema HemoCue. Utilizou-se a técnica da regressão linear múltipla para avaliar as ...

  2. HEMOGLOBINA GLICOSILADA COMO ELEMENTO PRONÓSTICO EN LAS COMPLICACIONES MACROVASCULARES DE LA DIABETES MELLITUS

    Directory of Open Access Journals (Sweden)

    Agnes Fajardo Matarrita

    2012-04-01

    Full Text Available En este artículo se discute la información obtenida respecto del cuidado enfermero brindado a personas portadoras de Diabetes Mellitus tipo 2 relacionada con la elevación de la hemoglobina glicolisada (Hba1c como factor pronóstico para el desarrollo de complicaciones. Se realizó una búsqueda de la mejor información científica disponible para construir el estado de la cuestión. Posteriormente, se estableció una pregunta en formato PICO (pacientes, intervención, comparación, observación y se procedió a establecer estrategias de búsqueda en las diferentes bases de datos sugeridas en el Curso de Práctica Clínica de Enfermería Basada en la Evidencia impartido por CIEBE-CR, entre las que se encuentran PUBMED, EBSCO HOST, principalmente. El análisis crítico se llevó a cabo mediante las recomendaciones que brinda CASPe y se comparó con la práctica realizada en el Hospital de la Anexión. El control intensivo de la glicemia, el cual incluye agentes orales, la insulina y la intervención cardiovascular múltiple reflejada en hemoglobinas glicosilada menores a 7, indicó que existía una evidente disminución en la incidencia de eventos macrovasculares mayores tales como el infarto agudo al miocardio, el ictus no fatal y el accidente vascular cerebral. De acuerdo con la evidencia, mantener la hemoglobina glicosilada dentro de parámetros normales disminuye el riesgo de sufrir complicaciones macrovasculares de esta patología en comparación con aquellos pacientes que manejan hemoglobina glicosiladaalta.

  3. Haplotipos del gen de la globina beta en portadores de hemoglobina S en Colombia

    Directory of Open Access Journals (Sweden)

    Claudia Liliana Durán

    2012-03-01

    Resultados. Los haplotipos de la hemoglobina S encontrados con mayor frecuencia en la muestra analizada son de origen africano y su orden de aparición fue mayor para el haplotipo Bantú (36,4 %, seguido por Senegal (30,3 %, Benín (21,2 % y Camerún (12,1 %. La electroforesis de hemoglobina confirmó el fenotipo AS; la dosificación de hemoglobina fetal mostró niveles por debajo de 1 % y los parámetros hematológicos analizados mostraron valores normales en el 100 % de los individuos. Conclusión. Los haplotipos de la HbS encontrados con mayor frecuencia en la muestra estudiada eran de origen africano y su distribución variaba de acuerdo con el lugar de prodedencia del individuo. La mayor frecuencia correspodió al haplotipo Bantú.   DOI: http://dx.doi.org/10.7705/biomedica.v32i1.600

  4. Identification and Functional Characterization of <em>G6PC2em> Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the <em>G6PC2-ABCB11em> Locus

    DEFF Research Database (Denmark)

    Mahajan, Anubha; Sim, Xueling; Ng, Hui Jin

    2015-01-01

    Genome wide association studies (GWAS) for fasting glucose (FG) and insulin (FI) have identified common variant signals which explain 4.8% and 1.2% of trait variance, respectively. It is hypothesized that low-frequency and rare variants could contribute substantially to unexplained genetic varian...

  5. Determinants of variant surface antigen antibody response in severe <em>Plasmodium falciparumem> malaria in an area of low and unstable malaria transmission

    DEFF Research Database (Denmark)

    A-Elgadir, T M E; Theander, T G; Elghazali, G

    2006-01-01

    The variant surface antigens (VSA) of infected erythrocytes are important pathogenic markers, a set of variants (VSA(SM)), were assumed to be associated with severe malaria (SM), while SM constitutes clinically diverse forms, such as, severe malarial anemia (SMA) and cerebral malaria (CM). This s......The variant surface antigens (VSA) of infected erythrocytes are important pathogenic markers, a set of variants (VSA(SM)), were assumed to be associated with severe malaria (SM), while SM constitutes clinically diverse forms, such as, severe malarial anemia (SMA) and cerebral malaria (CM...... range of isolates had a higher level of VSA Ab against the recognized isolates (correlation coefficient, 0.727, PSMA (P....001). Parasites obtained from patients with SMA or from children were better recognized than isolates obtained from patients with uncomplicated malaria or from adults, P

  6. Traço falciforme: heterozigose para hemoglobina S Sickle cell trait: heterozygous for the hemoglobin S

    Directory of Open Access Journals (Sweden)

    Mitiko Murao

    2007-09-01

    Full Text Available A hemoglobina S (HbS é uma das alterações hematológicas hereditárias de maior freqüência. No Brasil, a prevalência do traço falciforme (HbAS varia de 2% a 8%. Com esta freqüência gênica, estima-se, no Brasil, a existência de mais de dois milhões de portadores do traço falciforme. Diferentemente dos portadores em homozigose para a Hb S (Hb SS, os indivíduos com traço falciforme não apresentam sintomas vaso-oclusivos sob condições fisiológicas. Alguns sinais clínicos associados ao traço falciforme somente ocorrem sob condições que propiciam o processo de falcização, como hipóxia, acidose e desidratação. A expectativa de vida é semelhante ao do resto da população. Assim, a condição de portador assintomático não deve ter nenhum impacto no estilo e qualidade de vida.Hemoglobin S (HbS is one of the most common hereditary hematological alterations. In Brazil, the frequency of the sickle cell trait (HbAS varies from 2% to 8%. Thus, there is an estimate of more than two million carriers of the HbAS sickle cell trait in Brazil. Different to homozygous carriers for Hb S (Hb SS, individuals with the sickle cell trait do not present with vaso-occlusive symptoms under physiologic conditions. Some clinical signals associated to the sickle cell trait only occur under conditions that favor the sickling process, including hypoxia, acidosis and dehydration. Life expectancy is similar to the general population. Hence, the condition of asymptomatic carrier should not affect the style and quality of life.

  7. Niveles de hemoglobina glicosilada en pacientes con periodontitis crónica

    OpenAIRE

    Velásquez Machuca, Victor Eder; Universidad Nacional Mayor de San Marcos, Facultad de Odontología; Alejandro Estrada, Andrew; Universidad Nacional Mayor de San Marcos, Facultad de Odontología; Espinoza Escajadillo, Sofía; Universidad Nacional Mayor de San Marcos, Facultad de Odontología; García Linares, Sixto

    2017-01-01

    Objetivo: Evaluar si existe relación entre el nivel de hemoglobina glicosilada y la presencia de periodon-titis crónica. Materiales y método: se evaluaron 77 pacientes, agrupados en función a si presentaban o no periodontitis crónica. Los datos fueron recolectados en una ficha donde se consideró edad, género, índice de masa corporal (IMC) y antecedentes de dislipidemias, se llenaron los periodontogramas para establecer al grupo de pertenencia de los pacientes, se les envió a laboratorio clíni...

  8. Influência do tipo de aleitamento materno e da presença de anemia na mãe na concentração de hemoglobina aos 6 meses de idade Influence of breastfeeding type and maternal anemia on hemoglobin concentration in 6-month-old infants

    Directory of Open Access Journals (Sweden)

    Maria de Lourdes P. D. Teixeira

    2010-02-01

    Full Text Available OBJETIVO: Verificar a influência do tipo de aleitamento materno e da presença de anemia na mãe no nível de hemoglobina de lactentes aos 6 meses de idade. MÉTODOS: Estudo transversal, aninhado em estudo de intervenção de base comunitária, randomizado, controlado, que objetivou aumentar a duração do aleitamento materno exclusivo nos primeiros 6 meses de vida. O estudo foi realizado em quatro cidades do estado de Pernambuco, sendo os recém-nascidos recrutados no período de março a agosto de 2001. Seis meses após o parto, avaliou-se a concentração da hemoglobina de 330 mães/lactentes e o tipo de aleitamento. A identificação dos fatores que, de modo independente, contribuíram na concentração de hemoglobina das crianças foi realizada utilizando análise de regressão linear multivariada. RESULTADOS: O tipo de aleitamento não influenciou a concentração de hemoglobina na amostra como um todo. No entanto, ao se analisar o grupo de crianças em aleitamento exclusivo/predominante, verificou-se uma diferença significante na mediana da hemoglobina de 0,7 g/dL em detrimento das filhas de mães anêmicas. A hemoglobina materna, o tipo de piso da residência, o tipo de parto e o peso ao nascer contribuíram significantemente na variação da concentração de hemoglobina das crianças. CONCLUSÕES: Ao contrário do observado em relação ao tipo de aleitamento materno, a anemia materna exerceu influência sobre os valores de hemoglobina de lactentes aos 6 meses, mesmo quando consideradas apenas as crianças em aleitamento exclusivo/predominante, apontando para a necessidade de prevenção da anemia materna antes da concepção, durante a gravidez e na lactação.OBJECTIVE: To verify the influence of breastfeeding type and of maternal anemia on hemoglobin concentration in 6-month-old infants. METHODS: This was a cross-sectional study nested in a community-based, randomized and controlled intervention study that aimed to prolong the

  9. Caracterización de alteraciones en la molécula de hemoglobina en afrodescendientes colombianos

    OpenAIRE

    Castillo, Martha; Oliveros, Ana Lucia

    2014-01-01

    Objetivo: caracterizar alteraciones de la molécula de hemoglobina en afrodescendiente entre 18 a 50 años, a través de hemograma, estudio de sangre periférico, proteína C Reactiva, ferritina sérica, receptor soluble de transferrina sRTf y electroforesis de Hemoglobina. Materiales y métodos: Esta investigación contó con un total de 56 muestras:10 hombres y 46 mujeres.Resultados: La población en estudio perteneciente al distrito de Aguablanca en la Ciudad de Cali presentó alteraciones en la cade...

  10. Expression of variant surface antigens by <em>Plasmodium falciparumem> parasites in the peripheral blood of clinically immune pregnant women indicates ongoing placental infection

    DEFF Research Database (Denmark)

    Ofori, Michael F; Staalsoe, Trine; Bam, Victoria

    2003-01-01

    Placenta-sequestered Plasmodium falciparum parasites that cause pregnancy-associated malaria (PAM) in otherwise clinically immune women express distinct variant surface antigens (VSA(PAM)) not expressed by parasites in nonpregnant individuals. We report here that parasites from the peripheral blo...

  11. Investigação de variantes gênicas de canais iônicos em pacientes com síndrome do QT longo

    Directory of Open Access Journals (Sweden)

    Ernesto Curty

    2011-03-01

    Full Text Available FUNDAMENTO: A síndrome do QT longo (SQTL é uma síndrome arrítmica herdada com aumento do intervalo QT e risco de morte súbita. Mutações nos genes KCNQ1, KCNH2 e SCN5A respondem por 90% dos casos com genótipo determinado, e a genotipagem é informativa para aconselhamento genético e melhor manejo da doença. OBJETIVO: Investigação molecular e análise computacional de variantes gênicas de KCNQ1, KCNH2 e SCN5A associadas à SQTL em famílias portadoras da doença. MÉTODOS: As regiões codificantes dos genes KCNQ1, KCNH2 e SCN5A de pacientes com SQTL e familiares foram sequenciadas e analisadas utilizando o software Geneious ProTM. RESULTADOS: Foram investigadas duas famílias com critérios clínicos para SQTL. A probanda da Família A apresentava QTC = 562 ms, Escore de Schwartz = 5,5. A genotipagem identificou a mutação G1714A no gene KCNH2. Foi observado QTC = 521 ± 42 ms nos familiares portadores da mutação contra QTC = 391 ± 21 ms de não portadores. A probanda da Família B apresentava QTc = 551 ms, Escore de Schwartz = 5. A genotipagem identificou a mutação G1600T, no mesmo gene. A análise dos familiares revelou QTC = 497 ± 42 ms nos portadores da mutação, contra QTC = 404 ± 29 ms nos não portadores. CONCLUSÃO: Foram encontradas duas variantes gênicas previamente associadas à SQTL em duas famílias com diagnóstico clínico de SQTL. Em todos os familiares portadores das mutações foi observado o prolongamento do intervalo QT. Foi desenvolvida uma estratégia para identificação de variantes dos genes KCNQ1, KCNH2 e SCN5A, possibilitando o treinamento de pessoal técnico para futura aplicação na rotina diagnóstica.

  12. Estudo da Influência do Tempo de Laqueação do Cordão Umbilical na Concentração de Hematócrito, Hemoglobina e Bilirrubina

    OpenAIRE

    Chaves Thomaz, Débora Marchetti; Ralhares, Durval Batista

    2014-01-01

    Objetivo: Verificar a influência do tempo de laqueação do cordão umbilical na concentração de hematócrito, hemoglobina e btlirrubinas indireta em recém-nascidos de termo.Métodos: 90 recém-nascidos de termo saudáveis foram distribuídos igualmenle em 3 grupos de acordo com o tempo de laqueação do cordão umbilical (Grupo I -20 segundos. Grupo II - 30 segundos e Grupo III - 40 segundos) e acompanhados por 48 horas por avaliação Clinica e laboratorial. Foram colhidas amostras de sangue do cordão u...

  13. Influences of the common <em>FTO> rs9939609 variant on inflammatory markers throughout a broad range of body mass index

    DEFF Research Database (Denmark)

    Zimmermann, Esther; Skogstrand, Kristin; Hougaard, David M

    2011-01-01

    A recent study reported that the fatness associated A-allele of FTO rs9939609 increased plasma high sensitivity C-reactive protein (hs-CRP) levels independent of fatness. We aimed to investigate if this gene variant had fatness-independent effects on plasma hs-CRP and 10 additional circulating ob...... obesity-related adipokines throughout a broad range of body mass index (BMI) among Danish men....

  14. Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome: a rare cause of acute bulbar dysfunction in children = Variante faringo-cérvico-braquial da síndrome de Guillain-Barré: uma causa rara de disfunção bulbar aguda em crianças

    Directory of Open Access Journals (Sweden)

    Coelho, Joana

    2014-01-01

    Conclusões: Apesar da variante faringo-cervico-braquial ser pouco frequente em idade pediátrica, é um diagnóstico que deve ser considerado perante uma criança com disfunção bulbar aguda, pois a identificação precoce permite instituir rapidamente medidas terapêuticas que podem evitar a morte

  15. Insecticide-treated bed nets reduce plasma antibody levels and limit the repertoire of antibodies to Plasmodium <em>falciparum> variant surface antigens

    DEFF Research Database (Denmark)

    Askjaer, N; Maxwell, C; Chambo, W

    2001-01-01

    variant surface antigens (VSA) are important in the development of naturally acquired immunity to Plasmodium falciparum malaria and may thus be good indicators of immune status. We have compared the levels of VSA antibodies in plasma from children who have used ITN for 4 years to levels in plasma from...... children from a nearby village not using ITN. A total of 97 plasma samples were analyzed using 13 different P. falciparum isolates. We found that the children using ITN had significantly lower VSA antibody levels and recognized a smaller proportion of the VSA expressed by the tested parasite isolates than...... children not using ITN....

  16. Analysis of IgG with specificity for variant surface antigens expressed by placental <em>Plasmodium falciparumem> isolates

    DEFF Research Database (Denmark)

    Khattab, Ayman; Reinhardt, Christina; Staalsoe, Trine

    2004-01-01

    BACKGROUND: Pregnancy-associated malaria (PAM) is caused by Plasmodium falciparum-infected erythrocytes that can sequester in placental intervillous space by expressing particular variant surface antigens (VSA) that can mediate adhesion to chondroitin sulfate A (CSA) in vitro. IgG antibodies......: In the study cohort, primiparous as well as secundiparous women had the greatest risk of infection at delivery as well as during pregnancy. Primiparous women with infected placentas at delivery showed higher levels of VSAPAM-specific IgG compared to women who had no malaria infections at delivery. Placental...

  17. Köln's unstable hemoglobin: case report and literature review Hemoglobina instável de Köln: relato de caso e revisão de literatura

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    Sandra Pscheidt

    2003-01-01

    Full Text Available Unstable hemoglobins are a group of genetic variants of hemoglobins caused by the mutation of amino acids into alpha and beta globins and, depending on the points and types of mutation, the result can vary from no clinical symptomatology to severe hemolytic anemia. On the present report, we study the case of a female patient who showed a very exuberant hematological picture for the red series, which suggests hemoglobinic changes; this was confirmed following the conduction of the protocol established by Laboratório Médico Santa Luzia for the study of hemoglobinopathies and which was then sent for a reference laboratory: C.D.A. Naoun Laboratórios de Análises ClínicasAs hemoglobinas instáveis constituem um grupo de variantes genéticas de hemoglobinas causadas pela mutação de aminoácidos nas globinas alfa e beta e, dependendo dos pontos e dos tipos de mutações ocorridos, o resultado pode ser de nenhuma sintomatologia clínica até anemias hemolíticas graves. No presente relato, estudamos o caso de uma paciente que apresentava um quadro hematológico de série vermelha bastante exuberante, sugestivo de alteração hemoglobínica, o que foi confirmado após realização do protocolo estabelecido pelo Laboratório Médico Santa Luzia para estudo de hemoglobinopatias e posteriormente enviado para o laboratório de referência C.D.A. Naoun Laboratórios de Análises Clínicas.

  18. Cryo-EM of the pathogenic VCP variant R155P reveals long-range conformational changes in the D2 ATPase ring

    Energy Technology Data Exchange (ETDEWEB)

    Mountassif, Driss; Fabre, Lucien [Department of Anatomy and Cell Biology, McGill University, Groupe de recherche axé sur la structure des protéines (GRASP), Groupe d' Étude des Proteines Membranaires (GÉPROM), 3640 University Street, Montreal H3A 0C7 (Canada); Zaid, Younes [Department of Anatomy and Cell Biology, McGill University, Groupe de recherche axé sur la structure des protéines (GRASP), Groupe d' Étude des Proteines Membranaires (GÉPROM), 3640 University Street, Montreal H3A 0C7 (Canada); Current address: Laboratory of Thrombosis and Hemostasis, Montreal Heart Institute, Montreal, Quebec (Canada); Halawani, Dalia [Department of Anatomy and Cell Biology, McGill University, Groupe de recherche axé sur la structure des protéines (GRASP), Groupe d' Étude des Proteines Membranaires (GÉPROM), 3640 University Street, Montreal H3A 0C7 (Canada); Current address: Department of Cell Biology, Lerner Research Institute, 9500 Euclid Avenue NC10, Cleveland, OH 44195 (United States); Rouiller, Isabelle, E-mail: isabelle.rouiller@mcgill.ca [Department of Anatomy and Cell Biology, McGill University, Groupe de recherche axé sur la structure des protéines (GRASP), Groupe d' Étude des Proteines Membranaires (GÉPROM), 3640 University Street, Montreal H3A 0C7 (Canada)

    2015-12-25

    Single amino acid mutations in valosin containing protein (VCP/p97), a highly conserved member of the ATPases associated with diverse cellular activities (AAA) family of ATPases has been linked to a severe degenerative disease affecting brain, muscle and bone tissue. Previous studies have demonstrated the role of VCP mutations in altering the ATPase activity of the D2 ring; however the structural consequences of these mutations remain unclear. In this study, we report the three-dimensional (3D) map of the pathogenic VCP variant, R155P, as revealed by single-particle Cryo-Electron Microscopy (EM) analysis at 14 Å resolution. We show that the N-terminal R155P mutation induces a large structural reorganisation of the D2 ATPase ring. Results from docking studies using crystal structure data of available wild-type VCP in the EM density maps indicate that the major difference is localized at the interface between two protomers within the D2 ring. Consistent with a conformational change, the VCP R155P variant shifted the isoelectric point of the protein and reduced its interaction with its well-characterized cofactor, nuclear protein localization-4 (Npl4). Together, our results demonstrate that a single amino acid substitution in the N-terminal domain can relay long-range conformational changes to the distal D2 ATPase ring. Our results provide the first structural clues of how VCP mutations may influence the activity and function of the D2 ATPase ring. - Highlights: • p97{sub R155P} and p97{sub A232E} decrease the ability of p97 to bind to its co-factor Npl4. • p97{sub R155P} has a different isoelectric point than that of p97{sub R95G}, p97{sub A232E} and p97{sub WT}. • Mutation R155P changes principally the conformation of the D2 ring. • Mutation R155P modifies the interface between two protomers within the D2 ring.

  19. Estudos das variantes utilizadas em duas capitais sul-brasileiras para designar o conceito «tempo»

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    Paula Garcia Freitas

    2012-11-01

    Full Text Available Resumo: O estudo das palavras utilizadas por um grupo social pode ser o fio condutor para avaliar o conhecimento desse grupo. Assim sendo, este trabalho propõe-se a investigar a relação que comunidades têm com o “tempo” por meio do levantamento das palavras que utilizam para designar conceitos relacionados a ele. Para tanto, optou-se pela análise das respostas dadas por dezesseis informantes de duas localidades, Florianópolis e Curitiba, ao questionário semântico lexical (QSL relativo ao campo semântico de astros e tempo, no âmbito do Projeto ALIB (Atlas linguístico do Brasil. Por meio deste estudo, pôde-se constatar que os habitantes das duas capitais estudadas nesta pesquisa utilizam termos distintos para descrever as diferentes partes do dia e a relação temporal. Pode-se dizer também que os informantes das duas localidades não utilizam termos relacionados a estrelas ou outros fenômenos siderais para se referirem ao início e fim do dia.Palavras-chave: Variantes linguísticas; ALIB; dialetologia; tempo.Abstract: The study of the words used by a social group can be the conduit to assess the knowledge of this group. Thus, this study aims to investigate the relationship that communities have with the “time” through the survey of the words they use to describe it. To this end, we decided to examine the replies given by sixteen informants at two locations, Florianopolis and Curitiba, to the lexical semantic questionnaire (LSQ on the semantic field of stars and time, under the Project ALIB (Linguistic Atlas of Brazil. Through this study, it was found that the inhabitants of the capital, in particular the two that are the subject of this research, have a little relationship with the terms that describe the different parts of the day, especially those that detail the phenomena. We can also say that they don’t use terms related with the stars or other sidereal phenomena to refer to the beginning and the end of the day

  20. Ferropenia en niños de 6 a 24 meses de edad con hemoglobina normal

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    Marlen Ruiz González

    2002-04-01

    Full Text Available Se realizó un estudio a 55 niños de 6 a 24 meses de edad con hemoglobina normal con el objetivo de detectar precozmente la ferropenia y de identificar los factores que pueden contribuir a su aparición. Para esto se utilizó la determinación de protoporfirina eritrocitaria libre (PEL por punción digital. Teniendo en cuenta que esta no solo se eleva en la ferropenia, sino también en otras patologías como la intoxicación plúmbica, se le realizó a todo niño con protoporfirina elevada, coproporfirina III y ácido delta amino levulínico (ALA en orina. Además, se aplicó una encuesta donde se recogieron los posibles factores que de alguna forma pudieran provocar la ferropenia. Se encontraron 16 niños (29,1 % con PEL elevada, que coincidieron con el uso de lactancia artificial o mixta, exceso en la ingestión de leche y una alimentación inadecuada. Se concluyó que la PEL es una prueba útil para detectar la ferropenia en etapas tempranas, y que esta se relaciona con hábitos alimentarios incorrectos, lo cual puede ser solucionado con una mejor orientación a nivel de la Atención Primaria.

  1. Avaliação da vacina anti-rábica ERA, frente a variantes antigênicas do vírus da raiva, em diferentes períodos pós-imunização Evaluation of the ERA antirabies vaccine against antigenic variants of rabies virus in different post-immunization periods

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    Cláudia C. Cordeiro

    1990-12-01

    Full Text Available Avaliou-se, em camudongos, os níveis de proteção conferidos por uma vacina anti-rábica atenuada, preparada em cultura de tecido renal a partir da amostra ERA, frente a diferentes variantes antigênicas dos vírus da raiva. Utilizaram-se dois esquemas de vacinação, representados por uma única dose e por 6 doses aplicadas em dias alternados. Os diferentes camundogos dos grupos experimentais foram desafiados, em diversos períodos pós-imunização (15, 30, 60 e 120 dias, com variantes procedentes de cães (São Paulo e Nigéria, de morcego (DR-19 e Pernambuco, de raposa (Rio Grande do Norte e CVS "Challenge Virus Standard". Os resultados obtidos permitiram constatar que a vacina ERA foi eficaz contra todas as variantes de rua e silváticas do vírus rábico, independentemente do esquema vacinal. Contra as cepas adaptadas no laboratório DR-19 e CVS, quando aplicada em uma única dose, sua eficácia foi menor do que quando aplicada em 6 doses.Protection levels of an attenuated antirabies vaccine, of ERA origin, prepared in Kidney tissue culture, were evaluated in mice. Two schemes of vaccination were utilized: a single dose and 6 doses on alternate days. Animals of different experimental groups were challenged at 15, 30, 60 and 120 days post-immunization with six antigenic variants of rabies virus: strains of dog origin (S. Paulo, Brazil and Nigéria, vampire origin (DR-19 and Pernambuco, Brazil, fox origin (Rio Grande do Norte,Brazil, and CVS (Challenge Virus Standard. The results showed the effectiveness of the ERA vaccine against all antigenic variants of street and sylvatic rabies virus, independently of the vaccination scheme. Against the laboratory strains (DR-19 and CVS the ERA vaccine was less effective, mainly in the groups vaccinated with a single dose.

  2. Investigação de variantes gênicas de canais iônicos em pacientes com síndrome do QT longo Investigación de variantes génicas de canales iónicos en pacientes con síndrome del QT largo Investigation of ion channel gene variants in patients with long QT syndrome

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    Ernesto Curty

    2011-03-01

    Full Text Available FUNDAMENTO: A síndrome do QT longo (SQTL é uma síndrome arrítmica herdada com aumento do intervalo QT e risco de morte súbita. Mutações nos genes KCNQ1, KCNH2 e SCN5A respondem por 90% dos casos com genótipo determinado, e a genotipagem é informativa para aconselhamento genético e melhor manejo da doença. OBJETIVO: Investigação molecular e análise computacional de variantes gênicas de KCNQ1, KCNH2 e SCN5A associadas à SQTL em famílias portadoras da doença. MÉTODOS: As regiões codificantes dos genes KCNQ1, KCNH2 e SCN5A de pacientes com SQTL e familiares foram sequenciadas e analisadas utilizando o software Geneious ProTM. RESULTADOS: Foram investigadas duas famílias com critérios clínicos para SQTL. A probanda da Família A apresentava QTC = 562 ms, Escore de Schwartz = 5,5. A genotipagem identificou a mutação G1714A no gene KCNH2. Foi observado QTC = 521 ± 42 ms nos familiares portadores da mutação contra QTC = 391 ± 21 ms de não portadores. A probanda da Família B apresentava QTc = 551 ms, Escore de Schwartz = 5. A genotipagem identificou a mutação G1600T, no mesmo gene. A análise dos familiares revelou QTC = 497 ± 42 ms nos portadores da mutação, contra QTC = 404 ± 29 ms nos não portadores. CONCLUSÃO: Foram encontradas duas variantes gênicas previamente associadas à SQTL em duas famílias com diagnóstico clínico de SQTL. Em todos os familiares portadores das mutações foi observado o prolongamento do intervalo QT. Foi desenvolvida uma estratégia para identificação de variantes dos genes KCNQ1, KCNH2 e SCN5A, possibilitando o treinamento de pessoal técnico para futura aplicação na rotina diagnóstica.FUNDAMENTO: El síndrome del QT largo (SQTL es un síndrome arrítmico heredado con aumento del intervalo QT y riesgo de muerte súbita. Mutaciones en los genes KCNQ1, KCNH2 y SCN5A responden por 90% de los casos con genotipo determinado, y el genotipaje es informativo para aconsejamiento gen

  3. Ubicación altitudinal del umbral hipóxico para la masa total de hemoglobina en poblaciones colombianas

    OpenAIRE

    Benavides Pinzón, William Fernando

    2013-01-01

    El presente estudio pretende determinar la altura sobre el nivel del mar y el grado de hipoxia ambiental a partir del cual grupos de colombianos adultos saludables (nativos y/o residentes de la altura) incrementan la Masa Total de Hemoglobina referida al peso corporal (Hbtot), la cual se determinó por el método de re-inhalación del Monóxido de Carbono (CO) en cuatro localidades. Se examinaron 99 hombres y 104 mujeres (edad promedio de 21,07 ± 2,9 años para hombres y 21,26 ± 2,8...

  4. Seguridad alimentaria, crecimiento y niveles de vitamina A, hemoglobina y zinc en ninos preescolares del nordeste de Brasil

    OpenAIRE

    Dixis Figueroa Pedraza; Daiane de Queiroz; Adriana de Azevedo Paiva; Maria Auxiliadora Lins da Cunha; Zilka Nanes Lima

    2014-01-01

    El presente estudio buscó analizar la asociación entre la (in)seguridad alimentaria y el estado nutricional de niños preescolares asistidos en jardines infantiles. La seguridad alimentaria fue evaluada a través de la Escala Brasileña de Inseguridad Alimentaria (EBIA). El estado nutricional se evaluó a través del peso/edad, talla/edad, hemoglobina, retinol sérico y zinc sérico. Fueron encontradas prevalencias de déficit de estatura (6,2%), déficit de peso/edad (2,1%), deficiencia de vitamina A...

  5. Indicación temprana de electroforesis de hemoglobina a gestantes de Ciudad de La Habana

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    Marcos Raúl Martín Ruiz

    2000-06-01

    Full Text Available Con el propósito de lograr la detección temprana de parejas de alto riesgo de tener hijos con anemia falciforme en una edad gestacional lo más temprana posible, se estableció en el sistema nacional de salud en 1991-92 que el pesquisaje de hemoglobinas anormales en gestantes se hiciera en la captación del embarazo. Para evaluar la medida se consideraron 9 424 indicaciones de 80 áreas de salud de Ciudad de La Habana en 1999, con un 86,5 % de indicaciones tempranas globalmente, mientras que en 1992 fue 46,4 %. En la distribución de áreas de salud por intervalos según porcentaje de indicación temprana, se encontró: 75 al 84 %: 26 áreas de salud (32,5 %; 85-89 %: 29 (36,3 %; 90-94 %: 25 (31,3 %; y 95 % y más: ninguno. Se muestra en los resultados una notable mejoría en el cumplimiento de la medida. Todavía es necesario mejorar la divulgación y principalmente en áreas de salud todavía con insuficiencias.In order to detect as early as possible those couples at high risk for having children with sickle cell anemia, it was established in the national health system in l991-92 that the screening of abnormal hemoglobins in pregnant women should be made at the time of catchment. To evaluate the measure 9 424 indications of 80 health areas in Havana City were evaluated in l999, with 86,5% of early indications, whereas in l992 it was 46,4%. In the distribution of health areas by intervals according to the percentage of early indication the following results were obtained: 75-84%: 26 health areas (32,5%; 85-89%: 29 (36,3%; 90-94%: 25 (31,3% and 95% and over: none. It is observed a significant improvement concerning the fulfillment of this measure. It is still necessary to enhance spreading, mainly in those health areas with deficiencies

  6. Resistance of Abaca Somaclonal Variant Against Fusarium

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    RULLY DYAH PURWATI

    2007-12-01

    Full Text Available The objectives of this study were (i to evaluate responses against F. oxysporum f.sp. cubense (Foc infection of abaca variants regenerated using four different methods, (ii to determine initial root length and plant height effects on survival of inoculated abaca variants, and (iii to identify Foc resistance abaca variants. In the previous experiment, four abaca variant lines were regenerated from (i embryogenic calli (TC line, (ii ethyl methyl sulphonate (EMS treated embryogenic calli (EMS line, (iii EMS treated embryogenic calli, followed by in vitro selection on Foc culture filtrate (EMS+CF line, and (iv EMS treated embryogenic calli, followed by in vitro selection on fusaric acid (EMS+FA line. All abaca variants were grown in a glasshouse and inoculated with Banyuwangi isolate of Foc (Foc Bw. Initial root length (RL and plant height (PH of the abaca variants were recorded before inoculation, while scores of plant damage (SPD, and their survival were recorded at 60 days after inoculation (DAI. The results showed that the initial RL and PH did not affect survival of the tested abaca variants. Regardless of their initial RL and PH, susceptible abaca variants died before 60 DAI while resistance ones still survived. Abaca variants regenerated from single clump of embryogenic callus showed an array of responses against Foc Bw infection, indicating the existence of a mix cells population. The Foc Bw resistance abaca variants were successfully identified from four tested abaca variant lines, although with different frequencies. However, more Foc Bw resistance abaca plants were identified from EMS+CF line than the others. Using the developed procedures, 8 resistance abaca plants were identified from abaca cv. Tangongon and 12 from abaca cv. Sangihe-1.

  7. Seguridad alimentaria, crecimiento y niveles de vitamina A, hemoglobina y zinc en ninos preescolares del nordeste de Brasil

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    Dixis Figueroa Pedraza

    2014-02-01

    Full Text Available El presente estudio buscó analizar la asociación entre la (inseguridad alimentaria y el estado nutricional de niños preescolares asistidos en jardines infantiles. La seguridad alimentaria fue evaluada a través de la Escala Brasileña de Inseguridad Alimentaria (EBIA. El estado nutricional se evaluó a través del peso/edad, talla/edad, hemoglobina, retinol sérico y zinc sérico. Fueron encontradas prevalencias de déficit de estatura (6,2%, déficit de peso/edad (2,1%, deficiencia de vitamina A (24,4%, anemia (15,5% y deficiencia de zinc (15,0%. La inseguridad alimentaria familiar fue caracterizada en 64,2% de las familias predominando la forma leve (32,6%. El estudio concluye que la inseguridad alimentaria estimada por la EBIA no se asoció a los Escore-z de crecimiento ni a las concentraciones de retinol sérico, hemoglobina y zinc sérico.

  8. Prevalencia de los patrones electroforéticos de hemoglobina analizados en el CIHATA durante el período 2011-2013

    OpenAIRE

    Solano Vargas, Mariela; Salazar Sánchez, Lizbeth; Buzano Vargas, Lisa; Suárez Sánchez, María José

    2015-01-01

    Las hemoglobinopatías son alteraciones de las cadenas de globina que componen la hemoglobina, dentro de las alteraciones más comunes destacan las talasemias y la drepanocitosis. En el CIHATA se realizó un estudio retrospectivo de las muestras analizadas por electroforesis de hemoglobina durante el período 2011-2013, en donde se obtuvo un total de 2345 muestras analizadas, de las cuáles el patrón electroforético más frecuente fue el de Hb AA2, con un valor A2 promedio de (4.8±0.8%), compatible...

  9. Prevalencia de los patrones electroforéticos de hemoglobina analizados en el CIHATA durante el período 2011-2013.

    OpenAIRE

    Solano Vargas, Marianela; Salazar Sánzhez, Lizbeth; Buzano Vargas, Lisa

    2014-01-01

    Las hemoglobinopatías son alteraciones de las cadenas de globina que componen la hemoglobina, dentro de las alteraciones más comunes destacan las talasemias y la drepanocitosis. En el CIHATA se realizó un estudio retrospectivo de las muestras analizadas por electroforesis de hemoglobina durante el período 2011-2013, en donde se obtuvo un total de 2345 muestras analizadas, de las cuáles el patrón electroforético más frecuente fue el de Hb AA2, con un valor de A2 promedio de (4.8±0.8)%, compati...

  10. Avaliação semiológica da palidez: concordância entre observadores e comparação com níveis séricos de hemoglobina Clinical evaluation of the paleness: agreement between observers and comparison with hemoglobin levels

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    Rosemeri Maurici da Silva

    2010-01-01

    Full Text Available INTRODUÇÃO: A palidez é caracterizada pelo descoramento da pele e mucosas, decorrente da pouca quantidade de hemoglobina circulante. OBJETIVO: O objetivo é comparar o grau de palidez, estratificada em cruzes, com os níveis séricos de hemoglobina, e avaliar o grau de concordância entre observadores. MÉTODOS: Foram avaliados, no período de fevereiro a abril de 2009, por meio de estudo transversal observacional, os indivíduos com idade superior a 18 anos internados em um hospital no sul do estado de Santa Catarina, para os quais haviam sido solicitadas dosagens de hemoglobina. Os pacientes foram avaliados por dois observadores (médicos e estudantes de medicina quanto à presença e grau de palidez (de ausente a ++++/4 na conjuntiva ocular. O índice de concordância Kappa foi utilizado para avaliar a concordância entre observadores. Foram avaliados 96 pacientes, caucasianos, com idade média de 57,7 anos, sendo 45,8% do gênero masculino e 54,2% do gênero feminino. RESULTADOS: A comparação entre os níveis médios de hemoglobina com a palidez graduada em cruzes não apresentou diferença estatisticamente significativa para os profissionais medicos, sendo a diferença significativa para os estudantes de medicina. O índice de concordância Kappa entre os observadores foi baixo. CONCLUSÃO: Esta pesquisa demonstrou que não houve boa concordância entre os observadores na avaliação de palidez estratificada em cruzes, sendo a avaliação mais fidedigna com relação aos níveis séricos de hemoglobina entre os profissionais médicos.INTRODUCTION: Pallor is characterized by discoloring of the skin and mucous membranes due to a reduction in the amount of circulating hemoglobin. The objective of this study was to compare the degree of pallor, stratified using crosses, with hemoglobin levels and to evaluate the correlation between observers. METHOD: From February to April 2009, an observational cross-sectional study was carried out of

  11. Efeito da duração da amamentação exclusiva e mista sobre os níveis de hemoglobina nos primeiros seis meses de vida: um estudo de seguimento Effect of length of exclusive breastfeeding and mixed feeding on hemoglobin levels in the first six months of life: a follow-up study

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    Andréa Silva de Oliveira

    2010-02-01

    Full Text Available O objetivo deste estudo foi avaliar o efeito da duração da amamentação exclusiva e mista sobre os níveis de hemoglobina de lactentes. Trata-se de um estudo de seguimento com seis meses de duração, envolvendo 150 crianças nascidas na maternidade de Mutuípe, Bahia, Brasil. Mensalmente, as crianças eram submetidas ao exame de sangue para avaliação dos níveis de hemoglobina e realizava-se coleta de dados de consumo alimentar. Foram obtidos, ainda, dados obstétricos e sócio-econômicos. Utilizou-se o modelo linear de efeitos mistos para investigar as associações de interesse. Ao final do seguimento, a perda amostral foi de 15,3%, e detectou-se uma prevalência de 71,7% de anemia. Constatou-se um incremento de 0,091g/dL nos níveis de hemoglobina a cada mês de duração de aleitamento materno exclusivo (p = 0,031, enquanto, a cada mês de duração de aleitamento materno misto, os níveis de hemoglobina declinaram em 0,097g/dL (p = 0,017. Concluiu-se que as práticas alimentares inadequadas parecem estar diretamente envolvidas na etiologia da deficiência nutricional de ferro nesse período da vida.This six-month follow-up study aimed to assessing the effect of length of both exclusive breastfeeding and mixed feeding on hemoglobin levels in 150 infants born at the Mutuípe maternity facility in Bahia State, Brazil. Blood tests were performed monthly to assess the hemoglobin levels, at which time data were gathered on food intake. Obstetric and socioeconomic data were also collected. The linear mixed effects model was used to investigate the target associations. Loss to follow-up was 15.3%, and anemia prevalence was 71.7%. An increase of 0.091g/dL (p = 0.031 in hemoglobin levels was found for each month of exclusive breastfeeding, while a decrease of 0.097g/dL (p = 0.017 was shown for each month of mixed feeding. In conclusion, inadequate food practices appear to be directly involved in the etiology of iron deficiency anemia during

  12. Ocorrência de hemoglobina S no estado de Mato Grosso do Sul, Brasil Occurrence of hemoglobin S in Mato Grosso do Sul state, Brazil

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    Denise Rodrigues Holsbach

    2008-08-01

    Full Text Available INTRODUÇÃO: As hemoglobinopatias são as alterações genéticas mais comuns no homem, sendo a hemoglobina (Hb S a mais freqüente entre todas. Sua ocorrência no estado de Mato Grosso do Sul ainda não foi sistematicamente avaliada. OBJETIVOS: Caracterizar a ocorrência de Hb S por genótipos, sexo, idade no momento do diagnóstico, índice de cobertura e prevalência em Mato Grosso do Sul. MATERIAL E MÉTODO: Estudo retrospectivo, transversal e descritivo, desenvolvido com os resultados de triagem neonatal para hemoglobinopatias, utilizando a técnica de cromatografia líquida de alta pressão, no Instituto de Pesquisas, Ensino e Diagnósticos da Associação de Pais e Amigos dos Excepcionais (IPED/APAE de Mato Grosso do Sul em 2000-2005. RESULTADOS: De 190.809 indivíduos triados, 2.624 (1,38% encontraram-se alterados, correspondendo a 2.385 neonatos e 239 crianças maiores de 28 dias. Não houve diferença entre os sexos, sendo 1.335 do sexo feminino e 1.289 do masculino. Os genótipos alterados encontrados foram traço falciforme (FAS [99,16%] e doenças falciformes (FS [0,61%] e FSC [0,23%]. CONCLUSÃO: Esse primeiro estudo de triagem realizado no estado de Mato Grosso do Sul mostra que o programa desenvolvido pelo IPED/APAE está se solidificando no estado e avançando em relação ao índice de cobertura da população e ao diagnóstico precoce. Esses indicadores podem embasar ações preventivas (aconselhamento genético e estudos familiares e assistenciais (tratamento ambulatorial contínuo, que visam à redução da morbimortalidade de indivíduos acometidos por essas afecções no estado.BACKGROUND: Hemoglobinopathies are the most common genetic disorders in humans and Hb S is the most frequent among them. Its occurrence in the state of Mato Grosso do Sul has not been systematically analyzed yet. OBJECTIVES: To describe the occurrence of hemoglobin S according to genotypes, gender, age at the moment of diagnosis, cover index and

  13. Niveles de hemoglobina preoperatorios y desenlaces en los pacientes llevados a cirugía cardiovascular, revisión sistemática y metaanálisis

    National Research Council Canada - National Science Library

    Oliveros Rodríguez, Henry; Beltrán Linares, Édgar

    2012-01-01

    Metodos: Se realizo una revision sistematica y un metaanalisis de los estudios observacionales de cohorte y de casos y controles que exploraron la asociacion entre los niveles de hemoglobina prequirurgica...

  14. Haplotipos de la hemoglobina S: importancia epidemiológica, antropológica y clínica

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    Walter E. Rodríguez Romero

    1998-01-01

    Full Text Available La relación entre la drepanocitosis y los diferentes haplotipos del gen que codifica la subunidad betas de la globina ha permitido llegar a entender mejor las manifestaciones clínicas de aquella enfermedad. El uso de mejores técnicas de laboratorio permite descartar la presencia de otros factores hereditarios capaces de ocultar el verdadero genotipo hemoglobínico. La heterogeneidad clínica de la drepanocitosis, afección caracterizada por la presencia de una hemoglobina anormal denominada HbS, depende de las concentraciones de hemoglobina fetal (HbF, la razón de cadenas Ggamma a cadenas Agamma en la molécula de globina, las concentraciones de 2,3-difosfoglicerato, la presencia de mutaciones ligadas, los haplotipos del gen betas, la presencia simultánea de alfa-talasemia, y factores ambientales. En particular, los polimorfismos Senegal y árabe-saudí o indio del conglomerado de genes que codifican la subunidad betas se asocian con una evolución clínica menos grave, mientras que los haplotipos de la República Centroafricana (CAR o Bantú, Camerún y Benín se asocian con drepanocitosis grave. De todos, el haplotipo CAR es el de peor pronóstico (concentraciones de HbF de menos de 12% y razón de Ggamma:Agamma propia de la edad adulta. Estos polimorfismos del ácido desoxirribonucleico, una vez caracterizados, adquieren enorme importancia como marcadores antropológicos y genéticos. En las Américas, los haplotipos betas permiten entender mejor las raíces ancestrales africanas de las poblaciones de raza negra. Se ha comprobado la presencia de variedad genética no solo entre las diferentes poblaciones negras de las Américas, sino también dentro de un mismo país, como se observa en Costa Rica.

  15. Programa de prevención de anemia falciforme (III: La electroforesis de hemoglobina: indicación e interpretación

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    Marcos Raúl Martín Ruiz

    1996-04-01

    Full Text Available Se presenta una guía práctica para la indicación de electroforesis de hemoglobina, utilizada en el pesquisaje de hemoglobinas anormales en el Programa de Prevención de Anemia Falciforme, actualmente vigente en Cuba, así como la interpretación del fenotipo y el riesgo de tener hijos afectados con hemoglobinopatías SS y SC.A practical guide is presented for the indication of hemoglobin electrophoresis used in the screening of abnormal hemoglobins in the Programme for Prevention of Sickle Cell Anemia, standing in Cuba at present, as well as the interpretation of phenotype and the risk of having children with hemoglobinopathies SS or SC.

  16. Bioquímica en la vida diaria: el equilibrio químico y la función transportadora de la hemoglobina

    OpenAIRE

    Orfa Rojas, María; Echeverría Palacio, Carlos Mario; Ramírez Grueso, Raúl; Coba Torres, Kelly

    2010-01-01

    La hemoglobina es una proteína sanguínea que puede transportar oxígeno, un gas insoluble en medio acuoso, llevándolo a las diferentes partes del organismo en donde es requerido para su buen funcionamiento, así como productos metabólicos como el CO2 y el hidrógeno, para su excreción. Estos procesos se ven condicionados por factores como el pH, la concentración de BPG, las presiones parciales de O2 y CO2, la cooperatividad de la unión entre la hemoglobina y esos compuestos y los cambios conform...

  17. Variantes estruturalistas no ensino de Lacan

    OpenAIRE

    Riaviz, Eduardo

    2005-01-01

    Tese (doutorado) - Universidade Federal de Santa Catarina, Centro de Comunicação e Expressão. Programa de Pós-Graduação em Literatura A presente tese estuda as variantes estruturalistas no ensino de Lacan. Para introduzir estas variantes, parte dos antecedentes desse ensino, i.e., dos textos de Lacan que ainda não são lacanianos. Mostra, nestes antecedentes, uma intuição estruturalista em Lacan, um estruturalismo em estado prático. Será justamente este proto-estruturalismo a permitir que L...

  18. Carcinoma epidermoide (variante pequenas células vs. carcinoma de pequenas células do pulmão: diagnóstico diferencial em material de biópsia Small cell variant of squamous cell carcinoma vs. small cell carcinoma of the lung: differential diagnosis in biopsies

    Directory of Open Access Journals (Sweden)

    Rachel Martins Marinho

    2010-04-01

    Full Text Available O diagnóstico diferencial entre a variante pequenas células do carcinoma epidermoide e do carcinoma de pequenas células nem sempre é fácil. Apesar de os descritores alertarem que o primeiro deva manter suas características morfológicas e, muitas vezes, diferenciação escamosa focal, a escassez de material aliada a artefatos de fixação frequentes nessas biópsias podem dificultar a vida do patologista. Entretanto, a definição entre um e outro pode alterar significativamente a escolha da modalidade terapêutica do paciente e, em alguns casos, influenciar seu prognóstico. Procuramos nesta publicação alertar para o problema e facilitar essa diferenciação, sugerindo um painel imuno-histoquímico.The differential diagnosis between small cell variant of squamous carcinoma and small cell carcinoma is not always simple. Despite the fact that studies show the former keeps its morphologic characteristics and focal squamous differentiation, the scarcity of the material as well as frequent fixation artifacts in these biopsies may hinder analysis. However, this differentiation between them may change significantly the choice of therapeutic approach and, in some cases, influence prognosis. In this paper, we draw attention to this problem and suggest a immunohistochemical panel to facilitate this differential diagnosis.

  19. Avaliação de variante somaclonal de porte baixo de bananeira 'Nanicão Jangada' (Musa sp em duas densidades Evaluation of a dwarf somaclonal variant of banana 'Nanicão Jangada' (Musa sp in two planting densities

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    Patricia da Costa Zonetti

    2003-12-01

    Full Text Available Avaliou-se, sob duas densidades de plantio, um variante somaclonal de porte baixo de bananeira, comparando-o com a variedade Nanicão Jangada que lhe deu origem. Os materiais genéticos 'Nanicão Jangada'(controle e o variante somaclonal representado pelas seleções 224 e 225 de um ensaio anterior, foram avaliados nos espaçamentos 2,0m X 2,0m (densidade 2500 plantas ha-1 e 3,0m X 2,0m (1666plantas ha-1, na Fazenda de Ensino e Pesquisa da Faculdade de Engenharia - UNESP, Campus de Ilha Solteira-SP. O ensaio foi conduzido em blocos ao acaso com cinco repetições, com utilização de mudas micropropagadas, sob irrigação por gotejamento, no período de dezembro de 1998 a março de 2001, com avaliação dos dois primeiros ciclos de produção. Constatou-se efeito da densidade e do ciclo sobre a produção estimada de frutos sendo que no cultivo mais denso, a média foi de 81,25 t.ha-1 no primeiro ciclo de produção e 67,93 t.ha-1 no segundo ciclo. No cultivo de menor densidade a produção estimada no primeiro ciclo foi de 51,35 t.ha-1 e 44,08 t.ha-1 no segundo. As seleções do variante de porte baixo apresentaram menor altura da planta e mostraram-se relativamente mais precoces e com produção semelhante a cv. Nanicão Jangada no primeiro ciclo. No segundo ciclo houve uma queda na produção do bananal, com maior intensidade para a seleção 225 do variante.A dwarf somaclonal variant of banana was evaluated under two planting densities. It was compared with the cultivar "Nanicão Jangada", the original clone from which the variant derived. The genotypes 'Nanicão Jangada'(control and the somaclone, represented by selections 224 and 225 from a previous experiment, were evaluated at spaced 2.0 m X 2.0 m (density of 2500 plants ha-1 and 3.0 m X 2.0 m (1666 plants ha-1 at the "Fazenda de Ensino e Pesquisa da Faculdade de Engenharia - UNESP", Campus de Ilha Solteira, SP. The experiment was conducted in randomized complete blocks with 5

  20. Investigação bibliográfica sobre a hemoglobina S de 1976 a 2007 Investigación bibliográfica sobre la hemoglobina S de 1976 a 2007 Bibliographic investigation of hemoglobin S from 1976 to 2007

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    Denise Rodrigues Holsbach

    2010-01-01

    Full Text Available OBJETIVO: Buscar na literatura aspectos epidemiológicos explorados sobre a hemoglobina S. MÉTODOS: Trata-se de um levantamento bibliográfico nas bases de dados Medline e Lilacs. Também foi feita uma busca não eletrônica, em publicações de 1976 a 2007. RESULTADOS: Os resultados mostraram que, dos 21 artigos selecionados, 7 (33,3% foram publicados entre 1976 e 2000, 10 (47,7% entre 2001 e 2004 e 4 (19% entre 2005 e 2007. Com relação aos descritores, três referências (14%, são da área da enfermagem, descrevem o quadro clínico e a fisiopatologia, sendo que uma delas sistematiza a assistência à clientela com anemia falciforme à luz do referencial de adaptação de Roy; 11 (52% destacaram estudos epidemiológicos e a distribuição mundial; e sete (34% contemplaram diagnóstico médico, triagem neonatal e programas voltados à população falcêmica no Brasil. CONCLUSÃO: Os resultados apontam a necessidade de investigação nessa área pelos profissionais de saúde, principalmente os da área da enfermagem, em relação aos cuidados de prevenção, promoção e reabilitação dos pacientes falcêmicos.OBJETIVO: Buscar en la literatura aspectos epidemiológicos explorados sobre la hemoglobina S. MÉTODOS: Se trata de un levantamiento bibliográfico en las bases de datos Medline y Lilacs. También se hizo una búsqueda no electrónica, en publicaciones de 1976 a 2007. RESULTADOS: Los resultados mostraron que, de los 21 artículos seleccionados, 7 (33,3% fueron publicados entre 1976 y 2000, 10 (47,7% entre 2001 y 2004 y 4 (19% entre 2005 y 2007. Con relación a los descriptores, tres referencias (14% son del área de enfermería, describen el cuadro clínico y la fisiopatología, siendo que una de ellas sistematiza la asistencia a la clientela con anemia falciforme bajo el marco teórico de adaptación de Roy; 11 (52% destacaron estudios epidemiológicos y la distribución mundial; y siete (34% contemplaron el diagnóstico médico, la

  1. Efetividade do aconselhamento nutricional da Pastoral da Criança sobre a variação de hemoglobina entre menores de seis anos de idade Effectiveness of nutritional counseling provided by the Children's Mission on hemoglobin variation in under-six children

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    Iná dos Santos

    2005-02-01

    Full Text Available Para avaliar a efetividade do treinamento das líderes da Pastoral da Criança em aconselhamento nutricional sobre a variação da hemoglobina entre menores de seis anos, foi realizada uma intervenção comunitária. Por sorteio, uma das duas áreas de ação da Pastoral da Criança em Pelotas, Rio Grande do Sul, Brasil, foi selecionada e as líderes treinadas (Grupo Intervenção. A outra área constituiu o Grupo Controle. Após consentimento, a mãe foi entrevistada sobre a família, saúde e alimentação da criança. A hemoglobina foi medida com fotômetro portátil ao ingressar no estudo e após seis meses. O desfecho foi a variação da hemoglobina, da primeira para a segunda medida. Ingressaram 183 crianças intervenção e 179 crianças controle, comparáveis quanto ao sexo, idade, características ao nascer, aporte de ferro e nível médio de hemoglobina. Na análise ajustada, a variação no grupo intervenção foi 0,18 ± 0,27g/dl maior do que no controle. Embora a diferença entre os grupos não fosse estatisticamente significativa, a variação foi positiva no grupo intervenção e negativa no grupo controle, sugerindo benefício do treinamento.A community intervention was conducted to evaluate the effectiveness of leadership training in the Children's Mission (of the Brazilian Catholic Church for providing nutritional counseling on hemoglobin variation in children less than six years of age. Two areas of activity by the Children's Mission in Pelotas, Rio Grande do Sul State, Brazil, were randomly selected and the leaders in one were trained (intervention group. The other area constituted the control group. After providing consent, mothers were interviewed concerning the family and the child's health and eating. Hemoglobin was measured with a portable photometer upon entry into the study and at six months. The outcome variable was hemoglobin variation between the first and second measurements. The study included 183 intervention

  2. Variabilidad de los niveles de hemoglobina en pacientes tratados con agentes estimulantes de la eritropoyesis en pre-diálisis

    OpenAIRE

    Bonafont Pujol, Xavier

    2016-01-01

    La variabilidad de los niveles de hemoglobina (Hb) está relacionada con la mortalidad y la morbilidad en los pacientes en hemodiálisis tratados con agentes estimulantes de la eritropoyesis (AEE). La evidencia científica sobre los efectos de la variabilidad de Hb en los pacientes en prediálisis tratados con AEE es escasa e incompleta. OBJETIVOS: El objetivo principal de este estudio es determinar la influencia de la variabilidad de los niveles Hb con la mortalidad y la morbilidad de los p...

  3. Niveles de hemoglobina y puntajes de ingreso, en los alumnos ingresantes 2011 de la Facultad de Medicina Humana de la Universidad Nacional Mayor de San Marcos

    OpenAIRE

    Troncoso, Luzmila; Centro de Investigación de Bioquímica y Nutrición, Facultad de Medicina, UNMSM; Palomino, Felio; Centro de Investigación de Bioquímica y Nutrición, Facultad de Medicina, UNMSM; Oliveira, Gisela; Centro de Investigación de Bioquímica y Nutrición, Facultad de Medicina, UNMSM; Escudero, Gudelia; Centro de Investigación de Bioquímica y Nutrición, Facultad de Medicina, UNMSM; Flores, Juana; Centro de Investigación de Bioquímica y Nutrición, Facultad de Medicina, UNMSM; Aranda, Carmen; Centro de Investigación de Bioquímica y Nutrición, Facultad de Medicina, UNMSM; Vargas, Yorita; Centro de Investigación de Bioquímica y Nutrición, Facultad de Medicina,

    2013-01-01

    Objetivos: Determinar el nivel de hemoglobina y el puntaje de ingreso de los alumnos ingresantes 2011 de la Facultad de Medicina Humana de la UNMSM. Diseño: Descriptivo, observacional. Institución: Centro de Investigación de Bioquímica y Nutrición, Facultad de Medicina, UNMSM. Participantes: Alumnos de las EAP de Enfermería y Nutrición de la Facultad de Medicina de la UNMSM. Intervenciones: Participaron voluntariamente 45 alumnos de las EAP de Enfermería y Nutrición de la Facultad de Medicina...

  4. Frequency of the allelic variant (Trp8Arg/Ile15Thr of the luteinizing hormone gene in a Brazilian cohort of healthy subjects and in patients with hypogonadotropic hypogonadism Freqüência da variante alélica (Trp8Arg/Ile15Thr do gene do hormônio luteinizante em um grupo de brasileiros saudáveis e pacientes portadores de hipogonadismo hipogonadotrófico

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    Karina Berger

    2005-12-01

    Full Text Available PURPOSE: To evaluate the frequency of allelic variant Trp8Arg/Ile15Thr in the luteinizing hormone beta-subunit gene in a Brazilian population of healthy subjects and in patients with hypogonadotropic hypogonadism. SUBJECTS AND METHODS: Two hundred and two adults (115 women with normal sexual function and 48 patients (24 women with hypogonadotropic hypogonadism underwent a molecular study of the the luteinizing hormone beta-subunit gene using a polymerase chain reaction technique followed by enzymatic digestion with the restriction enzymes Nco I (for detection of the Trp8Arg point mutation and Fok I (for detection of the Ile15Thr point mutation. Basal luteinizing hormone and FSH, testosterone, or estradiol levels were measured in 37 healthy subjects (21 women and in 27 hypogonadotropic hypogonadism patients (13 women by immunofluorometric methods (hLH-Spec and hFSH-Spec, AutoDELFIA, Wallac Oy, Turku, Finland. RESULTS: The genetic variant of the luteinizing hormone beta-subunit gene was present at a similar frequency in healthy subjects (14.4% compared to patients with hypogonadotropic hypogonadism (16.6%. There was no effect of the allelic variant of the luteinizing hormone beta-subunit gene on luteinizing hormone levels in patients with hypogonadotropic hypogonadism as compared to healthy subjects. CONCLUSION: This study indicates that the allelic variant Trp8Arg/Ile15Thr of the luteinizing hormone beta-subunit gene is a common polymorphism in the Brazilian population (14.4%. The same frequency of this luteinizing hormone variant in the groups with hypogonadotropic hypogonadism and in the healthy subjects excludes a relationship between this variant and hypogonadotropic hypogonadism.OBJETIVO: Avaliar a freqüência da variante alélica (Trp8Arg/Ile15Thr do gene da subunidade beta do hormônio luteinizante em um grupo de brasileiros saudáveis e em pacientes portadores de hipogonadismo hipogonadotrófico. CASUÍSTICA E MÉTODOS: Duzentos e dois

  5. Diagnóstico laboratorial de hemoglobinopatias em populações diferenciadas

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    Orlando Giselda M.

    2000-01-01

    Full Text Available As hemoglobinopatias são um grupo heterogêneo de distúrbios herdados recessivamente que incluem as talassemias e as doenças falciformes. As mutações que as originam são específicas de algumas regiões e em muitos casos determinadas por distribuições étnicas e geográficas, fundamentando os programas de controle destas alterações e o aconselhamento genético. O diagnóstico de alterações de hemoglobinas envolve cuidados com a metodologia aplicada e o grupo populacional que será avaliado. A informação sobre o tipo de hemoglobina alterada e o suporte clínico, psicológico e genético ao portador e seus familiares é de grande importância para o sucesso de programas preventivos nesta área. Com objetivo de avaliar as metodologias disponíveis para o diagnóstico laboratorial das hemoglobinopatias e suas aplicações em laboratórios clínicos, comparamos a incidência de hemoglobinas anormais em populações diferenciadas a saber: doadores de sangue, portadores de anemia a esclarecer, recém-nascidos, e estudantes. As metodologias aplicadas envolveram procedimentos eletroforéticos, análises citológicas e bioquímicas de triagem e para confirmação. No período de setembro de 1999 a janeiro de 2000 analisamos 524 indivíduos, com presença de formas variadas de alteração de hemoglobina para cada grupo, sendo que, dentre as amostras da população de doadores de sangue, foram diagnosticados dois casos de indivíduos heterozigotos para anemia falciforme.

  6. Terapêutica com doses profiláticas de sulfato ferroso como medida de intervenção no combate à carência de ferro em crianças atendidas em unidades básicas de saúde

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    Torres Marco A. A.

    1994-01-01

    Full Text Available Objetivou-se testar a terapêutica com doses profiláticas de sulfato ferroso no combate à anemia carencial ferropriva, em 620 crianças de 4 a 36 meses de idade, atendidas em duas unidades de saúde do Município de São Paulo, Brasil. As crianças foram submetidas a coleta de sangue para dosagem de hemoglobina. Em seguida, foi prescrito dosagem de 12 mg/dia de ferro elementar, por 30 dias. Observou-se que 25% dos menores de 6 meses apresentaram níveis de hemoglobina inferiores a 11,0 g/dl. As maiores ocorrências de anemia foram detectadas entre os 9 e 23 meses de idade (50,0%. Decorrido o prazo, apenas 37,4% das crianças com anemia e 52,4% das não anêmicas retornaram para reavaliação. Das 299 que foram reavaliadas, somente 157 (52,5% receberam a medicação corretamente. A freqüência de hemoglobinas inferiores a 9,5 g/dl caiu de 17,1% no início, para 8,1% ao final da intervenção. Por outro lado, o percentual de crianças com hemoglobinas superiores a 12,0 g/dl subiu de 13,4%, para 33,4%. As que receberam a suplementação férrica de forma correta registraram queda nos índices de anemia sensivelmente maior que a observada naquelas suplementadas de forma incorreta. Concluiu-se que a terapêutica com doses profiláticas de sulfato ferroso, apesar de se mostrar eficiente na recuperação dos níveis de hemoglobina, apresenta sérios entraves do ponto de vista operacional.

  7. Primer caso de hemoglobina Köln (codon98 GTG>ATG) en Costa Rica First case of hemoglobin Köln (codon98 GTG>ATG) in Costa Rica

    OpenAIRE

    Walter Cartín; Carlos Suárez; Luis Mora; Kathia Valverde; Berta Valverde; Evan Jensen; Gabriela Abarca; Rafael Jiménez

    2010-01-01

    La exposición a ciertos medicamentos puede provocar anemia hemolítica con presencia de cuerpos de Heinz en sangre periférica. Esta anemia puede presentarse por sobredosis de medicamentos, tanto en individuos sanos como en personas con deficiencias enzimáticas como la glucosa-6-fosfato deshidrogenasa, o en presencia de hemoglobinas inestables. Este reporte muestra un caso de anemia hemolítica con cuerpos de Heinz, debido a la presencia de una hemoglobina inestable, cuyos estudios moleculares y...

  8. Análisis de las hemoglobinas glucosiladas de los pacientes diabéticos diagnosticados del 2006 al 2008 en el Hospital Nacional de Niños

    OpenAIRE

    Karla Morales-Navarro; Erick Richmond -Padilla; Roberto Bogarín -Solano; Orlando Jaramillo-Lines

    2011-01-01

    Objetivo: La hemoglobina glucosilada se ha utilizado como una de las principales herramientas para monitorear el adecuado control de la diabetes. El estudio tiene por objetivo describir los valores de hemoglobina glucosilada de los pacientes diabéticos diagnosticados durante el período 2006-2008, en control en el Hospital Nacional de Niños. Métodos: Estudio observacional descriptivo de 115 pacientes diabéticos en control en el Hospital Nacional Niños, diagnosticados en el período 2006-2008. S...

  9. Anemia intrahospitalaria y descenso de hemoglobina en pacientes internados Hospital-acquired anemia and decrease of hemoglobin levels in hospitalized patients

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    Carina V. Gianserra

    2011-06-01

    Full Text Available Es frecuente observar el desarrollo de anemia durante la internación, especialmente en pacientes graves. Esto se ha relacionado a extracciones de laboratorio. Pocos estudios evaluaron su prevalencia y factores asociados en pacientes internados en sala general. El objetivo fue determinar la prevalencia, características y factores clínicos asociados a anemia intrahospitalaria y descenso de hemoglobina en pacientes internados. Se efectuó un estudio transversal, prospectivo, descriptivo. Se analizaron 192 internaciones consecutivas en sala general. Se determinó aquellas que presentaron un descenso del valor de hemoglobina = 2 g/dl y se analizaron factores de riesgo asociados. Presentaron anemia 139 pacientes (72.4%, 89 (46.4% al ingreso y 50 (26% durante la internación. Se presentaron 47 casos de descenso de hemoglobina = 2 g/dl (24.47%, en los que se observaron los valores más bajos de hematocrito y hemoglobina al alta (p = 0.01, hidratación parenteral con mayor volumen (p = 0.01 y estadías hospitalarias más prolongadas (p = 0.0001. En el análisis univariado las variables leucocitosis = 11 000mm³ (OR; IC95%: 2.02; 1.03-4; p = 0.01, días de internación = 7 (OR; IC95%: 3.39; 1.62-7.09; p = 0.0006, hidratación parenteral = 1500 ml/día (OR; IC95%: 2.47; 1.06-6.4; p = 0.01, vía central (OR; IC95%: 10.29; 1.75-108.07, p = 0.003 y anemia intrahospitalaria (OR; IC95%: 7.06; 3.41-15.83; p = 0.00000004 fueron estadísticamente significativos como factores de riesgo para descenso de hemoglobina = 2 g/dl. En el análisis multivariado las variables leucocitosis = 11 000 mm³ (OR; IC95%:2.45; 1.14-5.27; p = 0.02; días de internación = 7 (OR; IC95%: 5.15; 2.19-12.07; p = 0.0002; hidratación parenteral = 1500 ml/día (OR; IC95%: 2.95; 1.13-7.72; p = 0.02 y vía central (OR; IC95%:8.82; 1.37-56.82; p = 0.02 fueron factores predictivos independientes de descenso de hemoglobina = 2 g/dl. La anemia intrahospitalaria tuvo una elevada prevalencia. La

  10. Avaliação da cobertura do programa de triagem neonatal de hemoglobinopatias em populações do Recôncavo Baiano, Brasil Evaluation of coverage by a neonatal screening program for hemoglobinopathies in the Recôncavo region of Bahia, Brazil

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    Wellington dos Santos Silva

    2006-12-01

    Full Text Available Em 2001, a Portaria n. 822/2001 do Ministério da Saúde tornou obrigatória a triagem neonatal para as hemoglobinopatias, especialmente a anemia falciforme, a doença genética mais comum no Brasil. A Bahia, em decorrência de sua história de povoamento, é o Estado com maior prevalência dessa doença no país. No presente trabalho, apresentamos a cobertura da triagem neonatal (número de recém-nascidos/número de triagens realizadas no período de 2001 a 2003 nos municípios de Cachoeira, São Félix e Maragogipe, localizados na região do Recôncavo Baiano, e a freqüência das hemoglobinas variantes HbS e HbC na população dos mesmos municípios, com exceção de São Félix. A freqüência total estimada de portadores para as duas hemoglobinas nessas populações foi de 13,0% e nos recém-nascidos de 8,5% em 2001, 6,5% em 2002 e 11,6% em 2003. A cobertura da triagem neonatal, quando se considera o período de 2001 a 2003, caiu de 82,6% para 46,4% no Município de Cachoeira, aumentou de 23,7% para 56,2% em Maragogipe e em São Félix atingiu 100%. Os dados aqui apresentados apontam para a necessidade de um melhor preparo dos serviços de saúde pública na maioria dos municípios analisados do Recôncavo Baiano para a cobertura da triagem neonatal.In 2001, government ruling n. MS 822/01 by the Brazilian Ministry of Health made neonatal screening mandatory for hemoglobinopathies, with special focus on sickle cell disease, the most common hemoglobinopathy in Brazil. Bahia is the State of Brazil with the highest prevalence of this disease. The current paper reports on the prevalence of hemoglobin variants HbS and HbC, which cause sickle cell disease, in the cities of Cachoeira, Maragogipe, and São Félix, Bahia State. The overall proportion of carriers for the two forms of hemoglobin was 13%. From 2001 to 2003, the neonatal screening rate decreased from 82.6% to 46.4% in Cachoeira and increased from 37.0% to 56.2% in Maragogipe. Thus, only

  11. Hemoglobina instável de Köln: relato de caso e revisão de literatura

    OpenAIRE

    Sandra Pscheidt; Pereima,Ivana M.L.; Márcia B. Roberge; Rotolo, Marco A.S.; Guilherme Genovez; Zunino, João N.

    2003-01-01

    Unstable hemoglobins are a group of genetic variants of hemoglobins caused by the mutation of amino acids into alpha and beta globins and, depending on the points and types of mutation, the result can vary from no clinical symptomatology to severe hemolytic anemia. On the present report, we study the case of a female patient who showed a very exuberant hematological picture for the red series, which suggests hemoglobinic changes; this was confirmed following the conduction of the protocol est...

  12. RSR13 e modificação alostérica da afinidade hemoglobina-oxigênio: abuso entre atletas RSR13 and allosteric change in the hemoglobin-oxygen afinity: abuse among athletes

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    Antonio Claudio Lucas da Nóbrega

    2002-02-01

    Full Text Available O ácido metilpropiônico (RSR13 é um modificador alostérico da hemoglobina, com a qual se liga de forma não-covalente, diminuindo sua afinidade pelo oxigênio de modo dose-dependente e, conseqüentemente, aumentando a oxigenação periférica. O objetivo deste artigo é apresentar brevemente as evidências científicas acerca das características farmacológicas e funcionais, indicações médicas e efeitos adversos do uso do RSR13 por atletas, a mais recente alternativa de aumento artificial do desempenho. Estudos experimentais preliminares verificaram algum efeito positivo do RSR13 sobre a recuperação do miocárdio isquêmico e sobre a extensão da isquemia cerebral, mas as principais indicações estudadas atualmente são a cirurgia com hipotermia e cardioplegia durante circulação extracorpórea e o uso como agente coadjuvante potenciador da radioterapia para certos tumores sólidos. Somente um estudo em modelo canino mostrou aumento do consumo máximo de oxigênio em músculo isolado, não existindo evidências de que o RSR13 possa efetivamente melhorar o desempenho em humanos. Em realidade, já foram descritos efeitos adversos, como diminuição da perfusão sanguínea, elevação da pressão arterial e diminuição da função renal. Antecipando o potencial aumento da utilização do RSR13 por atletas, métodos já foram desenvolvidos para sua detecção em amostras de urina humana.Methylpropionic acid (RSR13 is an allosteric hemoglobin modifier to which it binds in a non-covalent manner, reducing its affinity to oxygen in a dose-dependent fashion, and consequently, increasing peripheral oxygenation. The purpose of this article is to briefly present scientific evidence concerning pharmacological and functional characteristics, medical indications, and adverse effects of RSR13 use by athletes, the most recent alternative to enhance performance artificially. Preliminary experimental studies have verified some positive effect of RSR13

  13. Prevalência de anemia em gestantes de primeira consulta em centros de saúde do estado no Subdistrito de Paz do Butantã, Município de São Paulo

    OpenAIRE

    Elvira Maria Guerra Shinohara

    1989-01-01

    Foram estudadas 363 gestantes de primeira consulta, que não faziam uso de medicamentos que continham ferro, ácido fólico, vitamina B12 ou associação destes, na ocasião da coleta do material, em Centros de Saúde do Estado, no Subdistrito de Paz do Butantã, município de São Paulo. A prevalência de anemia (concentração de hemoglobina inferior a 11,6 g/dl) foi de 12,4%. As médias das concentrações de hemoglobina e as prevalências de anemia, segundo o trimestre de gestação, foram respectivamente:...

  14. Anemia em Idosos do Programa de saúde da Família do Município de Camaragibe Pernambuco 2003

    OpenAIRE

    Lemos Barbosa, Diana

    2006-01-01

    A anemia é considerada um problema de saúde pública em escala mundial, e é o distúrbio hematológico de maior prevalência que acomete a população idosa. O estudo objetivou estimar a prevalência e características da anemia em idosos do Programa de Saúde da Família (PSF) de Camaragibe, PE. O delineamento foi transversal, com amostra aleatória sistemática de 284 idosos ≥ 60 anos, de ambos os sexos, em novembro/dezembro-2003. A anemia foi avaliada pela hemoglobina (Hb), Hemató...

  15. Prevalência da hemoglobina S no Estado do Paraná, Brasil, obtida pela triagem neonatal Prevalence of hemoglobin S in the State of Paraná, Brazil, based on neonatal screening

    Directory of Open Access Journals (Sweden)

    Alexandra M. Watanabe

    2008-05-01

    Full Text Available O Ministério da Saúde instituiu o Programa Nacional de Triagem Neonatal através da Portaria nº. 822/GM, incluindo a pesquisa das hemoglobinopatias nos recém-nascidos. No Paraná, é realizada pela Fundação Ecumênica de Proteção ao Excepcional. Determinou-se a prevalência da hemoglobina S em homozigose, heterozigose e Sbeta-talassemia no estado. O sangue coletado em papel filtro foi examinado por focalização isoelétrica e cromatografia líquida de alta precisão (HPLC. De janeiro de 2002 a dezembro de 2004, foram triados 548.810 recém-nascidos e detectados 21 recém-nascidos com os resultados FS, dois FSA e/ou FS e quatro FSA. Após exames confirmatórios aos seis meses de idade, 12 foram definidos como anemia falciforme, com prevalência de 2,2:100 mil recém-nascidos; a interação Sbeta-talassemia foi confirmada em quinze (2,7:100 mil recém-nascidos; e 8.321 recém-nascidos foram diagnosticados como heterozigotos para HbS (1.500:100 mil recém-nascidos. A prevalência da HbS no Paraná é menor do que nas regiões Centro-Oeste, Norte e Nordeste do país. Origem étnica da população, óbitos fetais e casamentos preferenciais podem estar contribuindo para não haver maior número de homozigotos no estado. A interação Sbeta-talassemia sugere presença de povos euro-mediterrâneos na miscigenação dessa população.The Brazilian Ministry of Health created the National Neonatal Screening Program under ruling no. 822/2001, including neonatal screening for hemoglobinopathies. In the State of Paraná, neonatal screening is conducted by the Ecumenical Foundation for the Protection of the Handicapped. The prevalence rates were determined for homozygous and heterozygous hemoglobin S and Sbeta-thalassemia. Blood samples drawn on filter paper were examined by isoelectric focusing (IEF and high-performance liquid chromatography (HPLC. From January 2002 to December 2004, 548,810 newborns were screened, with the detection of 21 with FS

  16. Desmoplastic variant of ameloblastoma

    Energy Technology Data Exchange (ETDEWEB)

    Sohn, Jeong Ick; Kim, Dong Youn; Choi, Karp Shik [Dept. of Dental Radiology, College of Dentistry, Kyungpook National University, Daegu (Korea, Republic of)

    1995-02-15

    Desmoplastic variant of ameloblastoma is new and unusual variant of ameloblastoma with extensive stromal desmoplastic proliferation. The authors experienced a case of desmoplastic variant of amleloblastoma with moderate-defined radiolucency on the right maxillary anterior area in 62-year-old female. As a result of careful analysis of clinical, radiological examinations, we diagnosed it as desmoplastic variant of ameloblastoma. The following results were obtained; 1. Main clinical symptoms were nontender bony swelling with normal intact overlying mucosa on the right maxillary anterior area. 2. Radiographically, moderate-defined, multilocular radioluceney on the right maxillary anterior area were shown, and severe cortical bony thinning and expansion to labial and palatal sides were also observed. And this lesion was shown to be extended to the right nasal cavity. 3. Histopathologically, follicle-like epithelial islands with densely abundant collagenous stroma were morphologically compressed.

  17. Hemoglobina y testosterona: importancia en la aclimatación y adaptación a la altura Hemoglobin and testosterone: importance on high altitude acclimatization and adaptation

    Directory of Open Access Journals (Sweden)

    Gustavo F. Gonzales

    2011-03-01

    Full Text Available Los diferentes tipos de mecanismos que emplea el organismo cuando se enfrenta a una situación de hipoxia incluyen la acomodación, la aclimatación y la adaptación. La acomodación es la respuesta inicial a la exposición aguda a la hipoxia de altura y se caracteriza por aumento de la ventilación y de la frecuencia cardiaca. La aclimatación se presenta en los individuos que están temporalmente expuestos a la altura y, que en cierto grado, les permite tolerar la altura. En esta fase hay un incremento en la eritropoyesis, se incrementa la concentración de hemoglobina y mejora la capacidad de transporte de oxígeno. La adaptación es el proceso de aclimatación natural donde entra en juego las variaciones genéticas y la aclimatación que les permiten a los individuos vivir sin dificultad en la altura. La testosterona es una hormona que regula la eritropoyesis y la ventilación, podría estar asociada con los procesos de aclimatación y adaptación a la altura. La eritrocitosis excesiva que conduce al mal de montaña crónico es causada por una baja saturación arterial de oxígeno, una ineficiencia ventilatoria y reducida respuesta ventilatoria a la hipoxia. La testosterona se incrementa en la exposición aguda en la altura y en los nativos de altura con eritrocitosis excesiva. Los resultados de las investigaciones actuales permitirían concluir que el incremento de la testosterona y de la hemoglobina son buenas para la aclimatación adquirida pues mejoran el transporte de oxígeno pero no para la adaptación a la altura, dado que valores altos de testosterona en suero se asocian con eritrocitosis excesiva.The different types of response mechanisms that the organism uses when exposed to hypoxia include accommodation, acclimatization and adaptation. Accommodation is the initial response to acute exposure to high altitude hypoxia and is characterized by an increase in ventilation and heart rate. Acclimatization is observed in individuals

  18. Haplotipos de la hemoglobina S: importancia epidemiológica, antropológica y clínica S hemoglobin haplotypes: their epidemiologic, anthropologic, and clinical significance

    Directory of Open Access Journals (Sweden)

    Walter E. Rodríguez Romero

    1998-01-01

    Full Text Available La relación entre la drepanocitosis y los diferentes haplotipos del gen que codifica la subunidad betas de la globina ha permitido llegar a entender mejor las manifestaciones clínicas de aquella enfermedad. El uso de mejores técnicas de laboratorio permite descartar la presencia de otros factores hereditarios capaces de ocultar el verdadero genotipo hemoglobínico. La heterogeneidad clínica de la drepanocitosis, afección caracterizada por la presencia de una hemoglobina anormal denominada HbS, depende de las concentraciones de hemoglobina fetal (HbF, la razón de cadenas Ggamma a cadenas Agamma en la molécula de globina, las concentraciones de 2,3-difosfoglicerato, la presencia de mutaciones ligadas, los haplotipos del gen betas, la presencia simultánea de alfa-talasemia, y factores ambientales. En particular, los polimorfismos Senegal y árabe-saudí o indio del conglomerado de genes que codifican la subunidad betas se asocian con una evolución clínica menos grave, mientras que los haplotipos de la República Centroafricana (CAR o Bantú, Camerún y Benín se asocian con drepanocitosis grave. De todos, el haplotipo CAR es el de peor pronóstico (concentraciones de HbF de menos de 12% y razón de Ggamma:Agamma propia de la edad adulta. Estos polimorfismos del ácido desoxirribonucleico, una vez caracterizados, adquieren enorme importancia como marcadores antropológicos y genéticos. En las Américas, los haplotipos betas permiten entender mejor las raíces ancestrales africanas de las poblaciones de raza negra. Se ha comprobado la presencia de variedad genética no solo entre las diferentes poblaciones negras de las Américas, sino también dentro de un mismo país, como se observa en Costa Rica.The link between betas-gene haplotypes and sickle cell anemia has permitted a better understanding of the biological manifestations of this disease. The use of better laboratory methods can help rule out other hereditary factors that can

  19. Programa de prevención de anemia falciforme (I: Evaluación de la indicación de electroforesis de hemoglobina

    Directory of Open Access Journals (Sweden)

    Raúl Martín Ruiz

    1996-04-01

    Full Text Available Con el propósito de lograr la detección de parejas de alto riesgo para anemia falciforme, con una edad gestacional lo más temprana posible, se estableció en Ciudad de La Habana en 1991 y 1992 que la indicación de electroforesis de hemoglobina a las gestantes se hiciera en el momento de la captación del embarazo. Se analiza el cumplimiento de la medida en 72 policlínicos durante el último trimestre de 1992, mediante una revisión de las indicaciones. Las indicaciones con menos de 13 semanas de edad gestacional (indicaciones tempranas fueron el 43,4 % de un total de 3 416. Treinta y dos policlínicos (44,4 % no llegaron al 50 % de indicaciones tempranas, otras 32 estaban en el intervalo 50 y 74 % y sólo 8 (11,1 % alcanzaron al menos el 75 %. Concluimos que la implantación de la medida requiere más divulgación dirigida a los facultativos del nivel primario.Indication of hemoglobin electrophoresis at the first prenatal visit was stablished in Havana City in 1991 and 1992 with the purpose of detecting high risk couples for sickle cell anemia, as early as possible during pregnancy. The accomplishment of this measure is analyzed in 72 polyclinics in the last trimester of 1992, by checking the indications. Indications with less than 13 weeks of pregnancy (early indications represented 43,4 % of a total of 3 416. Thirty two polyclinics 44,4 % did not reach 50 % of early indications, other 32 were between 50 and 74 %, and only 8 (11,1 % amounted to at least 75 %. We conclude that to put into practice this measure more diffusion is necessary among primary health care level physicians

  20. Hemoglobina materna en la salud perinatal y materna en la altura: implicancias en la región andina Mother’s hemoglobin in perinatal and mother health in the highlands: implications in the andean region

    Directory of Open Access Journals (Sweden)

    Gustavo F. Gonzales

    2012-12-01

    Full Text Available Esta revisión analiza la importancia del valor de la hemoglobina en la gestante, y su implicancia sobre el embarazo. Discute el uso de combustible de biomasa y la repercusión en el peso del recién nacido, los valores de hemoglobina materna y el riesgo de muerte fetal tardía, parto pretérmino y nacer pequeño para la edad gestacional. Asimismo, se aborda la necesidad de corregir el punto de corte de los valores de hemoglobina para definir anemia en la altura. La evidencia actual sugiere no corregirla, así también, la suplementación de hierro a las gestantes debería ser dirigida a los casos de anemia moderada o severa. Se discute si se debería reorientar la suplementación de hierro a niños de 6 a menos de 36 meses de edad.This review analyzes the importance of hemoglobin levels in pregnant women and its implications in pregnancy. It discuss the use of biomass fuel for cooking and the impact on birthweight, maternal hemoglobin levels and the risk of late fetal death, pre-term delivery, and small for gestational age. Furthermore, the need to correct the cut-off points of hemoglobin level to define anemia at high altitudes is addressed. Current evidence suggests that corrections should not be made and iron supplements should be given to pregnant mothers with moderate or severe anemia. It is discussed whether iron supplementation should change its target population from pregnant women to infants aged 6 to 36 months.

  1. Hemoglobin Variants in Mice

    Energy Technology Data Exchange (ETDEWEB)

    Popp, Raymond A.

    1965-04-22

    Variability among mammalian hemoglobins was observed many years ago (35). The chemical basis for differences among hemoglobins from different species of mammals has been studied by several investigators (5, 11, 18, 48). As well as interspecies differences, hemoglobin variants are frequently found within a species of mammals (2, 3, 7, 16) The inheritance of these intraspecies variants can be studied, and pedigrees indicate that the type of hemoglobin synthesized in an individual is genetically controlled (20). Several of the variant human hemoglobins are f'unctionally deficient (7, 16). Such hemoglobin anomalies are of basic interest to man because of the vital role of hemoglobin for transporting oxygen to all tissues of the body.

  2. Optimización de la hemoglobina preoperatoria en cirugía ortopédica mayor utilizando hierro intravenoso con o sin eritropoyetina. Estudio epidemiológico

    OpenAIRE

    Basora Macaya, Misericordia; Colomina Soler, M. J. (María José); Tio, M.; Mora, Lidia; Sánchez-Etayo, G.; Salazar, F.; Ciércoles, E.; Paños, M.; Guerrero, E.; Berge, R.

    2015-01-01

    Objetivo: Evaluar la efectividad del tratamiento con hierro intravenoso, solo o asociado a eritropoyetina (rHuEPO), mediante el incremento de hemoglobina (Hb). Como objetivo secundario se analizó la relación del incremento de Hb con los parámetros utilizados para evaluar la anemia. Material y método: Estudio observacional retrospectivo realizado en 2 centros entre enero de 2005 y diciembre de 2009. Se incluyeron pacientes sometidos a cirugía ortopédica electiva con déficit de hierro y que fue...

  3. Correlación entre niveles de hemoglobina, volumen corpuscular medio y percentiles de peso y talla para la edad de alumnos de dos escuelas fiscales de la ciudad de Guayaquil, durante el período 2009 - 2010

    OpenAIRE

    Nicolalde Sánchez, Geovana

    2013-01-01

    La desnutrición a nivel mundial es un problema aún vigente siendo en nuestro país una realidad poco estudiada y reportada, por lo que se diseñó el presente estudio. Objetivo: determinar la prevalencia de anemia microcítica en niños de edad escolar y su relación con parámetros de crecimiento pondoestatural. Hipótesis: los niños con niveles de hemoglobina menor al percentil 5 tienen indicadores de crecimiento también inferiores a dicho percentil. Diseño: estudio epidemiológico, desc...

  4. Efecto del Tratamiento con hierro y ácido fólico sobre la concentración de hemoglobina y los índices eritrocitarios secundarios en niños con anemia en Cartagena de Indias

    OpenAIRE

    Herrera Amador, Carlos

    2015-01-01

    Tesis (Magister en Bioquímica Clínica).-- Universidad de San Buenaventura, Departamento De Ciencias de la Salud, Maestría en Bioquímica Clínica, 2013 El Hierro y el Ácido fólico son requerimientos esenciales para el organismo, porque se utilizan en la síntesis de hemoglobina, mioglobina y en los procesos de multiplicación celular de la línea eritroide. Se obtienen a través de los alimentos como carnes rojas, pollo, pescado, vegetales de hoja verde y frutas, son absorbidos en mayor cantidad...

  5. Programa de prevención de anemia falciforme (II: Evaluación del seguimiento de gestantes con hemoglobinas anormales

    Directory of Open Access Journals (Sweden)

    MarcosRaúl Martín Ruiz

    1996-04-01

    Full Text Available Algunos aspectos del Programa Cubano de Prevención de Anemia Falciforme fueron analizados en Ciudad de La Habana durante 1992. Todas las gestantes detectadas con hemoglobinas anormales fueron citadas por telegrama para explicarles el significado del hallazgo. El 62,2 % acudió con prontitud a la citación. El 21,6 % vino más tardíamente y se requirieron otros mecanismos de comunicación. El 16,2 % no acudió. Todas las gestantes que asistieron, aceptaron recibir asesoramiento genético y se hizo el seguimiento de los casos. El 47,6 % concluyó el estudio del cónyuge en tiempo útil para optar por diagnóstico prenatal. Los resultados muestran la necesidad de reducir la edad gestacional en que se determina el riesgo de la pareja. Ello sería posible mediante el pesquisaje en la primera consulta prenatal, métodos más eficientes en comunicar con las gestantes positivas, y más agilidad en la realización de los análisis y en informar los resultados.Some aspects of the Cuban Programme for Prevention of Sickle Cell Anemia were analyze in Havana City during 1992. All pregnants detected with abnormal hemoglobins received an appointment by telegram to get an explanation about the significance of findings; 62,2 % attended promptly to the appointment; 21,6 % came later, making necessary the use of other mechanisms of communication with pregnants; and 16,2 % never attended. All pregnants who went to the appointment accepted genetic counseling and were followed up. Only 47,6 % concluded testing of partner early enough for consideration of prenatal diagnosis. The results showed the need to reduce gestational age in order to determine the risk of the couple. This is possible by screaning pregnants at the first prenatal visit, by using more efficient methods for contacting with positive women, and by doing the test and informing the results faster.

  6. [Histone variants and histone exchange].

    Science.gov (United States)

    Wu, Nan; Gui, Jian-Fang

    2006-04-01

    Histones, as the basic components of nucleosome, are essential to chromatin structure and function. To adapt to various states of chromatin, corresponding histone variants are incorporated in nucleosome, and certain modifications also occur on the variants' tails. These variants change the conformation and stability of nucleosome to facilitate transcriptional activation or deactivation, DNA repairing, heterochromatin formation, and others. During histone exchange, chromatin remodeling complex facilitates histone variant deposition into nucleosome, and different variants have diverse deposition pathways. Recently, research on histone variants is not only a new hotspot in epigenetics, but also a new annotation of "histone code". In addition, histone exchange reveals new changing mechanism of DNA-histone interaction.

  7. CRENÇAS E ATITUDES LINGUÍSTICAS: A VARIANTE RETROFLEXA NA VARIEDADE RIO-PRETENSE

    National Research Council Canada - National Science Library

    Aline Vassoler; Roberto Gomes Camacho

    2016-01-01

    A pronúncia retroflexa do rótico em coda silábica, uma variante estigmatizada pelos falantes de outras variedades, identifica a chamada variedade caipira em que se inclui São José do Rio Preto...

  8. Lower frequency of the low activity adenosine deaminase allelic variant (ADA1*2 in schizophrenic patients Diminuição da frequência da variante alélica de baixa atividade da adenosina desaminase (ADA1*2 em pacientes esquizofrênicos

    Directory of Open Access Journals (Sweden)

    Gustavo Pimentel Dutra

    2010-09-01

    Full Text Available OBJECTIVE: Adenosine may play a role in the pathophysiology of schizophrenia, since it modulates the release of several neurotransmitters such as glutamate, dopamine, serotonin and acetylcholine, decreases neuronal activity by pos-synaptic hyperpolarization and inhibits dopaminergic activity. Adenosine deaminase participates in purine metabolism by converting adenosine into inosine. The most frequent functional polymorphism of adenosine deaminase (22G→A (ADA1*2 exhibits 20-30% lower enzymatic activity in individuals with the G/A genotype than individuals with the G/G genotype. The aim of this study was to evaluate the ADA polymorphism 22G→A (ADA1*2 in schizophrenic patients and healthy controls. METHOD: The genotypes of the ADA 22G→A were identified with allele-specific PCR strategy in 152 schizophrenic patients and 111 healthy individuals. RESULTS: A significant decrease in the frequency of the G/A genotype was seen in schizophrenic patients (7/152 - 4.6% relative to controls (13/111 - 11.7%, p = 0.032, OR = 2.6. CONCLUSION: These results suggest that the G/A genotype associated with low adenosine deaminase activity and, supposingly, with higher adenosine levels is less frequent among schizophrenic patients.OBJETIVO: A adenosina pode ter um papel importante na fisiopatologia da esquizofrenia, uma vez que modula a liberação de vários neurotransmissores, tais como glutamato, dopamina, serotonina e acetilcolina, diminui a atividade neuronal por hiperpolarização pós-sináptica e inibe a atividade dopaminérgica. A adenosina desaminase participa do metabolismo das purinas pela conversão de adenosina em inosina. O mais frequente polimorfismo funcional da adenosina desaminase (22G →A (ADA1*2 exibe uma diminuição de 20-30% da atividade funcional em indivíduos com genótipo G/A quando comparados com indivíduos com o genótipo G/G. O objetivo deste estudo foi avaliar o polimorfismo 22G→A (ADA1*2 em pacientes esquizofrênicos e em

  9. Alterações dos parâmetros clínicos e laboratoriais em pacientes obesos com diabetes melito tipo 2 submetidos à derivação gastrojejunal em y de Roux sem anel

    Directory of Open Access Journals (Sweden)

    Michelle Varaschim

    Full Text Available OBJETIVOS: Verificar as alterações do peso e índice de massa corporal em pacientes obesos grau II e III com diabete melito tipo 2 nos períodos pré e pós-operatório e as alterações dos parâmetros laboratoriais de glicemia de jejum, glicemia pós-prandial, hemoglobina glicada, insulina nos períodos pré e pós-operatório. MÉTODOS: Realizou-se estudo prospectivo selecionando 40 pacientes com obesidade grau II e III, submetidos à derivação gastrojejunal em Y-de-Roux sem anel. Analisou-se no pré e pós-operatório de 60 dias o peso, índice de massa corporal, glicemia de jejum, glicemia pós-prandial, hemoglobina glicada e insulina. RESULTADOS: O peso médio pré-operatório foi de 107,3Kg diminuindo para 89,5Kg no pós-operatório. O índice de massa corporal médio inicial foi de 39,5Kg/m2 e 32,9Kg/m2 com 60 dias de pós-operatório. A glicemia de jejum no pré-operatório foi de 132 mg/dl e no pós-operatório diminuiu 40,4 mg/dl em média. A glicemia pós-prandial foi de 172 mg/dl no pré-operatório e 111,6 mg/dl no controle pós-operatório. A hemoglobina glicada inicial foi de 7% declinando para 5,7% no pós-operatório. A insulina pré-operatória foi 29,6 uIU/ml e a pós-operatória 13,9 uIU/ml. Todas as variáveis apresentaram significância estatística com p<0,001. CONCLUSÃO: Houve significante diminuição de peso e no índice de massa corporal entre os períodos pré e pós-operatórios e diminuição também significante dos parâmetros laboratoriais de glicemia de jejum, glicemia pós-prandial, hemoglobina glicada, insulina entre os mesmos períodos.

  10. Alterações hematológicas e cardíacas em cavalos Árabes submetidos ao teste de esforço crescente em esteira rolante

    Directory of Open Access Journals (Sweden)

    Guilherme de Camargo Ferraz

    2009-12-01

    Full Text Available Estudaram-se alterações na freqüência cardíaca e variáveis hematológicas de eqüinos Puro Sangue Árabe (PSA, submetidos a exercício intenso em esteira rolante sob condições tropicais. Para tanto, 24 eqüinos, treinados, realizaram exercício teste de intensidade crescente e amostras de sangue foram obtidas durante as etapas de esforço 4; 5; 6; 7; 8; 9 e 10 m.s-1, com 10% de inclinação. As colheitas de sangue foram realizadas 15 segundos antes do término de cada etapa. A freqüência cardíaca foi obtida em cada etapa do exercício teste. Com as amostras de sangue foram obtidos, hematócrito, hemácias, hemoglobina e leucócitos totais. Foram calculados índices hematimétricos absolutos, volume corpuscular médio (VCM, hemoglobina corpuscular média (HCM e a concentração de hemoglobina corpuscular média (CHCM. Os resultados mostram que houve variação significativa (p < 0,05, a partir do repouso, entre os valores médios da freqüência cardíaca e das variáveis hematimétricas. Destaque para o VCM e HCM que aumentaram significativamente (p < 0,05 na etapa de esforço máximo (10m/s demonstrando haver anisocitose durante o exercício intenso. Desta forma, o grau das alterações destas variáveis fisiológicas está relacionado com a intensidade e duração do exercício teste.

  11. Intoxicação experimental por Indigofera suffruticosa em caprinos e ovinos

    Directory of Open Access Journals (Sweden)

    Anna P.M. de Figueiredo

    2012-02-01

    Full Text Available Indigofera suffruticosa é uma planta invasora, ção. Em um caprino e um ovino foram realizados os testes que causa anemia hemolítica com hemoglobinúria em bo-de fragilidade osmótica, determinação de hemoglobina e vinos e, experimentalmente, anemia sem hemoglobinúria metemoglobina e pesquisa de corpúsculos de Heinz. Foi em cobaios. O objetivo deste trabalho foi determinar a comprovado que em caprinos e ovinos, I. suffruticosa cautoxicidade de I. suffruticosa para caprinos e ovinos. Par-sa anemia hemolítica sem hemoglobinúria com formação tes aéreas da planta foram administradas a seis caprinos de corpúsculos de Heinz. Os animais recuperaram-se da e quatro ovinos em doses diárias de 10, 20 e 40g por kg anemia, total ou parcialmente, mesmo com a continuidade de peso vivo, durante períodos de 2 a 24 dias. Foram ava-da administração da planta. Oito a 12 horas após a coleliados os parâmetros hematológicos (hematócrito, níveis ta observa-se pigmento azulado na urina. Sugere-se que o de hemoglobina e contagem de hemácias e foi coletada pigmento seja anilina ou algum metabolito dessa substânurina para urinálise e observação de variações na coloracia e que a anilina seja o princípio ativo responsável pela hemólise causada por I. suffruticosa.

  12. Histone variants and lipid metabolism

    NARCIS (Netherlands)

    Borghesan, Michela; Mazzoccoli, Gianluigi; Sheedfar, Fareeba; Oben, Jude; Pazienza, Valerio; Vinciguerra, Manlio

    2014-01-01

    Within nucleosomes, canonical histones package the genome, but they can be opportunely replaced with histone variants. The incorporation of histone variants into the nucleosome is a chief cellular strategy to regulate transcription and cellular metabolism. In pathological terms, cellular steatosis

  13. Análisis de las hemoglobinas glucosiladas de los pacientes diabéticos diagnosticados del 2006 al 2008 en el Hospital Nacional de Niños Glycated Hemoglobin Analysis of Diabetic Patients Diagnosed from 2006 to 2008 at the National Children’s Hospital

    OpenAIRE

    Karla Morales-Navarro; Erick Richmond -Padilla; Roberto Bogarín -Solano; Orlando Jaramillo-Lines

    2011-01-01

    Objetivo: La hemoglobina glucosilada se ha utilizado como una de las principales herramientas para monitorear el adecuado control de la diabetes. El estudio tiene por objetivo describir los valores de hemoglobina glucosilada de los pacientes diabéticos diagnosticados durante el período 2006-2008, en control en el Hospital Nacional de Niños. Métodos: Estudio observacional descriptivo de 115 pacientes diabéticos en control en el Hospital Nacional Niños, diagnosticados en el período 2006-2008. S...

  14. Influencia del ejercicio físico aeróbico durante el embarazo en los niveles de hemoglobina y de hierro maternos. (Influence of the physical aerobic exercise during pregnancy in the maternal haemoglobin and iron levels.

    Directory of Open Access Journals (Sweden)

    James Stirling

    2008-04-01

    Full Text Available Resumen Son bien conocidos los efectos beneficiosos que el ejercicio físico tiene sobre la salud en general, aunque no se cuenta con la misma información cuando se desarrolla durante el embarazo. La mayor incertidumbre es saber si pueden coexistir ambos procesos, ejercicio y embarazo, sin conflictos materno-fetales y sin resultados del embarazo alterados. Especialmente cuando día a día, son más las mujeres que desean continuar ejercitándose de alguna forma, durante su embarazo. El objetivo de este trabajo es conocer la influencia del ejercicio físico aeróbico moderado desarrollado durante el segundo y tercer trimestres en los niveles de hemoglobina y de hierro maternos. Material y métodos: Se llevó acabo un estudio experimental que incluyó un total de 142 gestantes. Grupo casos: integrado por 72 mujeres. Grupo control: integrado por 70 mujeres. Los parámetros maternos estudiados fueron: niveles de hierro, nivel de hemoglobina previo al parto, edad gestacional, tipo de parto. Fetales: Peso de nacimiento, talla, perímetro craneal, test de Apgar (1´y 5´. Resultados: No se encontraron diferencias significativas a nivel estadístico entre ambos grupos (p menor que 0,05, el grupo de casos (ejercicio presento medias similares en los niveles de hemoglobina: 12.1 ± 0.8 y de hierro: 65.90 ± 7.1; que el grupo de control: hemoglobina: 12.3 ± 0.8 y hierro: 66.42 ± 8.4. El peso de nacimiento fue inferior en el grupo de casos dentro de valores normales (-142.1 grs.. Conclusión: El ejercicio aeróbico moderado desarrollado durante el segundo y tercer trimestre de embarazo parece no alterar los niveles de hierro y hemoglobina maternos. Abstract They are very well-known the beneficial effects that the physical exercise has about the health in general, although it is not had the same information when it refers to a pro- cess of remarkable importance: the pregnancy. The biggest uncertainty is to know if both processes, exercise and pregnancy can

  15. Caracterização de variantes de Grapevine Fanleaf Virus (GFLV), Arabis Mosaic Virus (ARMV) e respectivos RNAS satélites presentes em castas portuguesas de Vitis Vinifera

    OpenAIRE

    Reis, Rita Alexandra Feliciano dos

    2015-01-01

    Dissertação de mestrado, Biologia Molecular e Microbiana, Faculdade de Ciências e Tecnologia, Universidade do Algarve, 2015 Grapevine fanleaf virus, vírus do urticado ou nó-curto da videira e Arabis mosaic virus são dois Nepovirus, da família Secoviridae e ambos possuem um genoma bipartido de cadeia simples e sentido positivo. Além destes, foram detetados em alguns isolados de ArMV e GFLV, RNAs satélite de grande tamanho, satRNA do tipo B. Estes vírus encontram-se entre os principais agent...

  16. Consumo de semente de linhaça durante a lactação afeta peso e nível de hemoglobina na prole de ratas Maternal consumption of flaxseed during lactation affects weight and hemoglobin level of offspring in rats

    Directory of Open Access Journals (Sweden)

    Ludmila F. M. F. Cardozo

    2010-04-01

    Full Text Available OBJETIVO: Avaliar os efeitos do consumo da semente de linhaça durante a lactação sobre o peso corporal, indicadores hematológicos e massa de gordura visceral dos filhotes de ratas na idade adulta. MÉTODOS: Foram utilizadas 16 ratas Wistar que, após o parto, foram divididas em dois grupos que receberam, durante a lactação, as seguintes dietas: grupo-controle (GC, ração à base de caseína, e grupo linhaça (GL, ração à base de caseína contendo 25% de semente de linhaça. Ao desmame, os filhotes machos passaram a receber ração comercial até a idade adulta, quando foram sacrificados aos 170 dias de vida para coleta de sangue e avaliação da massa de gordura visceral. RESULTADOS: Foi encontrado menor peso corporal da prole do GL (GL = 42,69±3,06 g; GC = 47,31±4,72 g; p = 0,036 ao desmame. Aos 170 dias de idade foram observados menores valores na hemoglobina do GL (GL = 12,30±1,28 g/dL; GC = 13,88±0,91 g/dL; p = 0,02. Não foram verificadas diferenças estatísticas na massa de gordura visceral entre os grupos. CONCLUSÕES: O consumo materno da ração à base de semente de linhaça durante a lactação promoveu menor peso ao desmame e níveis menores de hemoglobina na idade adulta quando comparados ao GC.OBJECTIVE: To investigate the effects of maternal flaxseed consumption during lactation on the body weight, hematological indicators and visceral fat mass of male offspring in adulthood. METHODS: Sixteen female Wistar rats were divided into two groups after giving birth. During lactation the control group (CG was fed a casein-based diet and the flaxseed group (FG was fed a casein-based diet containing 25% flaxseed. After weaning, male offspring were fed on commercial chow until adulthood and euthanized at 170 days for blood collection and visceral fat mass assessment. RESULTS: Offspring of rats in the FG had lower body weight (FG = 42.69±3.06 g; CG = 47.31±4.72 g; p = 0.036 at weaning. At 170 days, lower hemoglobin levels

  17. VARIANT project - further progress

    Science.gov (United States)

    Korepanov, V.; Negoda, O.; Alleyne, H.; Balikhin, M.; Fedorov, A.; Juchniewicz, J.; Klimov, S.; Krasnoselskikh, V.; Lefeuvre, F.; Lizunov, G.

    VARIANT is a joint international space experiment which will be performed onboard the Ukrainian remote sensing satellite SICH-1M, that will be launched in 2003 at the polar circular orbit with the altitude 670s30 km. The scientific payload includes three instruments for registration of space current density: split Langmuir probe, Rogovski coil and Faraday cup. The equipment also includes sensors for measurements of electric and magnetic fields in the frequency range from DC to 40 kHz. Main objectives of the VARIANT mission are as follows: u direct comparison of the spectral characteristics of the electric and magnetic fields with the characteristics of the field aligned currents in the polar regions; mapping of the field aligned current distribution; u comparative study of the field aligned current structures with the characteristics of the ionospheric convection observed by the system of radars SuperDARN; u comparative study of technological problems associated with different techniques of current density measurements; and the secondary objectives are: u active experiments with the onboard radar; registration of the signatures of the seismo-active and volcanic phenomena; investigation of the man-made impact upon the ionosphere (anthropogenichazards, pollution, etc). Recent space experiments tendency U smaller and cheaper U stimulated the new approach to the functions division between scientific instruments and DPU. The peculiarities of such approach and the practical example of onboard DPU for VARIANT experiment to be launched next year are reported. Flight model of the VARIANT instrument is already installed onboard the satellite and successfully tested. The methodological questions of the spatial current density direct measurement in space plasma are constantly studied and recent advances in this branch, as well as the experimental tests results are discussed. This work was partially supported by NSAU contract 1221 and INTAS grant 2000-465.

  18. Variants of glycoside hydrolases

    Energy Technology Data Exchange (ETDEWEB)

    Teter, Sarah; Ward, Connie; Cherry, Joel; Jones, Aubrey; Harris, Paul; Yi, Jung

    2017-07-11

    The present invention relates to variants of a parent glycoside hydrolase, comprising a substitution at one or more positions corresponding to positions 21, 94, 157, 205, 206, 247, 337, 350, 373, 383, 438, 455, 467, and 486 of amino acids 1 to 513 of SEQ ID NO: 2, and optionally further comprising a substitution at one or more positions corresponding to positions 8, 22, 41, 49, 57, 113, 193, 196, 226, 227, 246, 251, 255, 259, 301, 356, 371, 411, and 462 of amino acids 1 to 513 of SEQ ID NO: 2 a substitution at one or more positions corresponding to positions 8, 22, 41, 49, 57, 113, 193, 196, 226, 227, 246, 251, 255, 259, 301, 356, 371, 411, and 462 of amino acids 1 to 513 of SEQ ID NO: 2, wherein the variants have glycoside hydrolase activity. The present invention also relates to nucleotide sequences encoding the variant glycoside hydrolases and to nucleic acid constructs, vectors, and host cells comprising the nucleotide sequences.

  19. A importância da determinação da hemoglobina glicada no monitoramento das complicações crônicas do diabetes mellitus The importance of glycated hemoglobin determination in the management of chronic complications associated with diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Andreza Fabro de Bem

    2006-06-01

    Full Text Available O diabetes é uma situação clínica muito freqüente que envolve cerca de 7% da população mundial. Por essa razão muitos esforços têm sido empregados na implementação de métodos de monitoramento e no desenvolvimento de terapias efetivas para o seu controle. A hemoglobina glicada (HbA1c é o teste mais indicado na quantificação do risco de complicações crônicas em pacientes diabéticos. O Diabetes Control and Complications Trial (DCCT e o United Kingdom Prospective Diabetes Study (UKPDS concluíram que o risco de complicações em pacientes diabéticos é diretamente proporcional ao controle glicêmico, determinado através dos níveis de HbA1c. A medida exata e precisa da HbA1c é uma questão importante para os laboratórios clínicos, sendo que vários fatores podem afetar as determinações, levando a resultados equivocados. O objetivo deste estudo é demonstrar os diferentes métodos para a quantificação da HbA1c, bem como discutir os problemas mais freqüentes de padronização dessa determinação.Diabetes is a widespread disease, involving about 7% of the entire world population. For this reason, many efforts have been devoted to the wide application of valid monitoring procedures and to the development of effective therapeutic approaches. Glycated hemoglobin (HbA1c is the pre-eminent factor for quantifying the risk of chronic complications in patients with diabetes. The Diabetes Control and Complications Trial (DCCT and United Kingdom Prospective Diabetes Study (UKPDS, demonstrated conclusively that risks for complications in patients with diabetes are directly related to glycemic control, as measured by glycated hemoglobin (HbA1c. Accurate determination of HbA1c is an important issue for clinical laboratories and several factors may affect and lead to erroneous results. The main objective of this study is to show the different methods for glycated hemoglobin quantification and to discuss the most frequent problems of

  20. Weekly iron supplementation reduces anemia prevalence by 1/3 in preschool children Suplementação semanal com sulfato ferroso reduz em 1/3 a prevalência de anemia em pré-escolares

    Directory of Open Access Journals (Sweden)

    Gisela Soares Brunken

    2004-06-01

    ao cardápio da creche, como forma de controle desses níveis de hemoglobina. Este é um estudo de intervenção, onde os indivíduos foram avaliados em três momentos: no início do tratamento (T0, após a primeira etapa (T1 e após a segunda etapa (T2. Para avaliação da hemoglobina foi utilizado hemoglobinômetro portátil - HemoCue. Houve um acréscimo significativo na hemoglobina, após controle para idade e hemoglobina inicial. A concentração de hemoglobina aumentou em média 0,1 g/l após cada dose de sulfato ferroso. Ao final de quatro meses de suplementação houve um acréscimo médio de 1,6 g/l, e a prevalência de anemia reduziu para 1/3, suficiente para atingir a meta das Nações Unidas adotada pelo Brasil. Ao final de nove meses (quatro meses de suplementação medicamentosa semanal, seguida de cinco meses de orientação alimentar, a prevalência de anemia reduziu para 1/4. A intervenção mostrou-se viável para utilização em diferentes creches e em pré-escolares.

  1. Ocorrência simultânea de síndrome de Evans e anemia falciforme em uma criança de 2 anos

    OpenAIRE

    Brito,Adriana Alexandre; Leite,Luiz Arthur Calheiros; Martin,Rúbia Maysa; Ramos,Fernando Wagner da Silva; Reis,Simone Medeiros Beder

    2012-01-01

    A associação entre anemia falciforme (AF) e síndrome de Evans (SE) parece ser rara. Esse estudo objetivou relatar o caso de uma criança com AF e SE. A paciente R. M. S. S., 2 anos de idade, foi admitida em um centro hematológico apresentando hemorragia de mucosa, leucometria 20,3 × 10(9)/l, hemoglobina 4,6 g/dl e plaquetas 28 × 10(9)/l. Posteriormente, realizou-se mielograma, que evidenciou hipercelularidade eritroide, sugerindo hemólise. Teste positivo da antiglobulina direcionou o diagnósti...

  2. Effect of a beverage fortified with evaporated sugarcane juice on hemoglobin levels in preschool children Efecto de una bebida fortificada con jugo de caña condensado sobre los niveles de hemoglobina en niños preescolares

    Directory of Open Access Journals (Sweden)

    Francisco P. Arcanjo

    2009-10-01

    Full Text Available The study objective was to measure the effect of consumption of a beverage mixed with a high-iron sweetener (evaporated sugarcane juice known as rapadura on hemoglobin levels in preschool children, and to compare it with the effect of consuming the same beverage sweetened with refined sugar. Research consisted of a 12-week randomized, controlled double-blind trial conducted in 2007 at a state-run school in Sobral, Brazil, among children aged 2-3 years. The study sample was divided into two groups-one consuming cashew juice mixed with 25 g of rapadura and 40 mg of ascorbic acid (per 200-mL serving, and another consuming the same quantity of juice and ascorbic acid sweetened with 25 g of standard refined sugar. A significant statistical increase in hemoglobin was observed in the group consuming the rapadura-fortified beverage. It was therefore concluded that consumption of rapadura increased hemoglobin and thus reduced iron deficiency anemia in preschool children.El objetivo de este estudio fue evaluar el efecto del consumo de una bebida mezclada con un edulcorante de alto contenido en hierro (jugo de caña condensado, conocido como rapadura sobre los niveles de hemoglobina en niños preescolares y compararlo con el efecto de consumir la misma bebida endulzada con azúcar refinada. Se realizó un estudio aleatorizado, controlado y con doble enmascaramiento durante 12 semanas de 2007 en una escuela estatal de Sobral, Brasil. La muestra compuesta por niños de 2 a 3 años se dividió en dos grupos: uno consumió jugo de marañón con 25 g de rapadura y 40 mg de ácido ascórbico (por porción de 200 mL y otro que consumió la misma cantidad de jugo con 25 g de azúcar refinada estándar. Se observó un aumento significativo de la hemoglobina en el grupo que consumió la bebida fortificada con rapadura. Se concluye, por tanto, que el consumo de rapadura elevó los niveles de hemoglobina, con lo que se puede reducir la anemia por deficiencia de hierro

  3. Identification of HPV variants.

    Science.gov (United States)

    Cason, John; Bible, Jon; Mant, Christine

    2005-01-01

    The vast majority of anogenital carcinomas are caused by high-risk human papillomaviruses (HPVs), and among Western nations HPV-16 is usually the most predominant cancer-associated type. As a DNA virus, HPV type 16 has a relatively stable genome that is believed to have co-evolved with its host over the millennia. Nevertheless, among the "wild" populations of HPV-16 that are circulating, a large number of variants have been identified, and these may have considerably different pathogenic potentials. In this chapter, methods for screening and characterizing HPV-16 sequence variants are described. In particular, we describe methods for the identification of variation within the HPV-16 E5 open reading frame and for the detection of the nt 131 A-->G mutation of the E6 ORF, using restriction fragment length polymorphism assays. In addition, we describe approaches for DNA sequencing and analysis. Such methods are likely to be of particular interest to those involved in epidemiological investigations of virus transmission and pathogenicity studies.

  4. Determinación de la acidificación permisible a la sangre bovina para la cuantificación de hemoglobina mediante la técnica de drabkin

    OpenAIRE

    Maritza González-Pérez; Raúl González-Hernández; Yenisleidy Revilla-Fernández; Orestes Mayo-Abad

    2012-01-01

    La técnica de Drabkin es la más comúnmente empleada dentro del laboratorio clínico para la cuantificación de la hemoglobina (Hb) en la sangre.El autor de la técnica original estableció su realización a pH 7,2 debido a la dilución de la sangre que se produce por los reactivos empleados en ella, puesto que su pH original está entre 7,3 y 7,4 y su utilización solo se limita a este fin. En muchos trabajos de investigación, se emplea la sangre bovina como materia prima, para el aislamiento y extra...

  5. Eritrograma e medição dos eritrócitos de avestruzes (Struthio camelus em São José do Rio Preto-SP, Brasil

    Directory of Open Access Journals (Sweden)

    Antonio José Sabino

    2011-06-01

    Full Text Available Os parâmetros eritrocitários de avestruzes auxiliam no diagnóstico de afecções específicas, além de servir como conhecimento básico no estudo de patologia comparativa das aves. Para obtenção de valores de referência dos índices eritrocitários de avestruzes (Struthio camelus criados em um sistema comercial no Brasil e verificar se existem diferenças relativas ao sexo e faixas etárias, foram colhidas amostras sanguíneas de 240 animais saudáveis e de ambos os sexos. Amostras sanguíneas heparinizadas foram analisadas utilizando técnicas-padrão para determinar a contagem de eritrócitos, concentração de hemoglobina, hematócrito, volume corpuscular médio (VCM, hemoglobina corpuscular média (HCM, concentração de hemoglobina corpuscular média (CHCM além da análise morfométrica dos eritrócitos utilizando um programa de computador que calcula os diâmetros maior e menor dos eritrócitos. Para a análise dos dados os avestruzes foram divididos em três diferentes faixas etárias: de quatro a 13 meses; de 13 a 23 meses e de 23 a 30 meses. De modo geral, avestruzes jovens apresentaram índices eritrocitários inferiores aos dos animais mais velhos. Diferenças relativas à idade só foram significativamente relevantes em fêmeas para os valores de eritrócitos, hemoglobina, VCM, HCM e CHCM. As avestruzes fêmeas apresentaram valores de hematócrito, VCM, HCM e CHCM significantemente maiores que os machos em algumas faixas etárias. Os eritrócitos de avestruzes fêmeas são mais compridos e largos do que os de machos. Pode-se concluir que os parâmetros eritrocitários de avestruzes em São José do Rio Preto-SP, Brasil estão sob influência do sexo e da idade, ressaltando a importância de considerar além desses fatores, também as condições geoclimáticas para uma interpretação adequada do eritrograma.

  6. Regulación de la concentración de hemoglobina en la policitemia de altura: modelo matemático

    Directory of Open Access Journals (Sweden)

    1990-01-01

    Full Text Available LA REGULATION DE LA CONCENTRATION DE L’HEMOGLOBINE DANS LA POLYCYTHEMIE D’ALTITUDE: UN MODELE MATHEMATIQUE. Un modèle mathématique a été développé pour étudier la corrélation fonctionnelle entre la concentration d’hémoglobine (Hb et la pression veineuse moyenne du O2 (PvO2 a différentes altitudes. Le modèle combine l’équation de convection de Fick pour le transport du O2, avec l’équation de Hill pour l’affinité Hb-O2 et avec l’équation empirique qui relie la Hb avec la pression artérielle de O2 (PaO2 chez les natifs andins. Le modèle prédit la fonction adaptative de Hb jusqu’à une altitude maximale de 3400 m une valeur adaptative limitée du flux sanguin en haute altitude que la régulation homéostatique de la Hb est à son maximum au niveau de la mer et diminue en altitude que la PvO2 rénale est plus sensible à une chute de la PaO2 que la PvO2 corporelle, ce qui correspond au rôle du rein dans la production d’érithropoïétine. Le modèle a prouvé son utilité dans l’enseignement de la physiologie du transport du O2 dans des conditions normoxiques et hypoxiques. Se ha desarrollado un modelo matemático para estudiar la correlación funcional entre la concentración de hemoglobina (HB y la presión venosa media de O2 (PvO2 a diferentes alturas. El modelo combina la ecuación de convección de Fick para el transporte de O2, con la ecuación de Hill para la afinidad de Hb-O2 y con una ecuación empírica que relaciona la HB con la presión de 02 arterial (PaO2 en nativos andinos. El modelo predice la función adaptativa de Hb hasta un máximo de 3400 m de altura el limitado valor adaptativo del flujo sanguíneo en las grandes alturas que la regulación homeostática de la HB es máxima a nivel del mar y disminuye en la altura que el PvO2 renal es más sensible a una caída del PaO2 que el PvO2 corporal, lo que coincide con el papel del riñón en la producción de eritropoyetina. El modelo ha probado su utilidad

  7. Variants of windmill nystagmus.

    Science.gov (United States)

    Choi, Kwang-Dong; Shin, Hae Kyung; Kim, Ji-Soo; Kim, Sung-Hee; Choi, Jae-Hwan; Kim, Hyo-Jung; Zee, David S

    2016-07-01

    Windmill nystagmus is characterized by a clock-like rotation of the beating direction of a jerk nystagmus suggesting separate horizontal and vertical oscillators, usually 90° out of phase. We report oculographic characteristics in three patients with variants of windmill nystagmus in whom the common denominator was profound visual loss due to retinal diseases. Two patients showed a clock-like pattern, while in the third, the nystagmus was largely diagonal (in phase or 180° out of phase) but also periodically changed direction by 180°. We hypothesize that windmill nystagmus is a unique manifestation of "eye movements of the blind." It emerges when the central structures, including the cerebellum, that normally keep eye movements calibrated and gaze steady can no longer perform their task, because they are deprived of the retinal image motion that signals a need for adaptive recalibration.

  8. O formativo tele- e suas variantes no português atual do Brasil

    Directory of Open Access Journals (Sweden)

    Waldenice Moreira Cano

    2001-02-01

    Full Text Available

    Este artigo tem por objetivo estudar o formativo <em>tele->, mostrando os sentidos adquiridos por esse elemento grego ao penetrar na língua geral. A descrição constará de uma parte histórica em que se demonstrará a evolução semântica do referido afixo em algumas obras lexicográficas desde o fim do século passado. Em seguida, utilizando um corpus constituído de expressões extraídas da publicidade, é analisado o comportamento atual de <em>tele-> com suas variantes neológicas.

  9. Anemia em lactentes de baixa renda em aleitamento materno exclusivo Anemia in low-income exclusively breastfed infants

    Directory of Open Access Journals (Sweden)

    Marco Antonio A. Torres

    2006-08-01

    Full Text Available OBJETIVO:Verificar o comportamento dos valores da hemoglobina e a prevalência de anemia entre lactentes de termo de 3 a 6 meses de idade em aleitamento materno exclusivo. MÉTODOS: Estudo transversal em 242 lactentes de 3 a 6 meses de idade com peso de nascimento superior a 2.500 g, em aleitamento materno exclusivo e em acompanhamento no Programa de Promoção do Crescimento e Desenvolvimento do Lactente do Programa Einstein na Comunidade de Paraisópolis. A dosagem de hemoglobina foi realizada por meio de punção digital entre o terceiro e o sexto meses de vida. Adotaram-se os valores de Hb OBJECTIVE: To verify the behavior of hemoglobin levels and anemia prevalence in full term infants, aged 3 to 6 months and on exclusive breastfeeding. METHODS: A cross-sectional study of 242 infants aged 3 to 6 months with birth weights of more than 2,500 g, on exclusive breastfeeding and monitored by the Program for the Promotion of Infant Growth and Development, part of the Paraisópolis Einstein Community Program. Hemoglobin was assayed by finger prick between the third and sixth months of life. Anemia was defined as Hb < 10.3 g/dL (Saarinen or Hb < 10 g/dL (Brault-Dubuc for infants aged 3 to 5 months and as Hb < 11.0 g/dL (WHO for infants aged 6 months. RESULTS: Mean hemoglobin concentration was 11.3 and 11.4 g/dL at 3 and 4 months and 11.2 and 11.1 g/dL at 5 and 6 months, respectively. The percentage of anemic infants varied depending on age and the cutoff adopted, being 11.8, 10.2 and 8.3% at 3, 4 and 5 months, respectively, according to the Brault-Dubuc criteria, and 20.6, 14.8 and 10.4% by the Saarinen criteria. Anemia prevalence at 6 months was 37.5%. CONCLUSIONS: Anemia prevalence rates observed among infants aged between 3 and 6 months varied from 8.3 to 37.5%, justifying increased attention on the part of pediatricians to the hemoglobin levels of infants who are on exclusive breastfeeding, come from low-income families and present risk factors

  10. Variants of beta-glucosidase

    Energy Technology Data Exchange (ETDEWEB)

    Fidantsef, Ana; Lamsa, Michael; Gorre-Clancy, Brian

    2015-07-14

    The present invention relates to variants of a parent beta-glucosidase, comprising a substitution at one or more positions corresponding to positions 142, 183, 266, and 703 of amino acids 1 to 842 of SEQ ID NO: 2 or corresponding to positions 142, 183, 266, and 705 of amino acids 1 to 844 of SEQ ID NO: 70, wherein the variant has beta-glucosidase activity. The present invention also relates to nucleotide sequences encoding the variant beta-glucosidases and to nucleic acid constructs, vectors, and host cells comprising the nucleotide sequences.

  11. Variants of beta-glucosidases

    Energy Technology Data Exchange (ETDEWEB)

    Fidantsef, Ana; Lamsa, Michael; Gorre-Clancy, Brian

    2014-10-07

    The present invention relates to variants of a parent beta-glucosidase, comprising a substitution at one or more positions corresponding to positions 142, 183, 266, and 703 of amino acids 1 to 842 of SEQ ID NO: 2 or corresponding to positions 142, 183, 266, and 705 of amino acids 1 to 844 of SEQ ID NO: 70, wherein the variant has beta-glucosidase activity. The present invention also relates to nucleotide sequences encoding the variant beta-glucosidases and to nucleic acid constructs, vectors, and host cells comprising the nucleotide sequences.

  12. Variants of beta-glucosidase

    Science.gov (United States)

    Fidantsef, Ana [Davis, CA; Lamsa, Michael [Davis, CA; Gorre-Clancy, Brian [Elk Grove, CA

    2009-12-29

    The present invention relates to variants of a parent beta-glucosidase, comprising a substitution at one or more positions corresponding to positions 142, 183, 266, and 703 of amino acids 1 to 842 of SEQ ID NO: 2 or corresponding to positions 142, 183, 266, and 705 of amino acids 1 to 844 of SEQ ID NO: 70, wherein the variant has beta-glucosidase activity. The present invention also relates to nucleotide sequences encoding the variant beta-glucosidases and to nucleic acid constructs, vectors, and host cells comprising the nucleotide sequences.

  13. Accelerated EM-based clustering of large data sets

    NARCIS (Netherlands)

    Verbeek, J.J.; Nunnink, J.R.J.; Vlassis, N.

    2006-01-01

    Motivated by the poor performance (linear complexity) of the EM algorithm in clustering large data sets, and inspired by the successful accelerated versions of related algorithms like k-means, we derive an accelerated variant of the EM algorithm for Gaussian mixtures that: (1) offers speedups that

  14. Product Variant Master as a Means to Handle Variant Design

    DEFF Research Database (Denmark)

    Hildre, Hans Petter; Mortensen, Niels Henrik; Andreasen, Mogens Myrup

    1996-01-01

    be implemented in the CAD system I-DEAS. A precondition for high degree of computer support is identification of a product variant master from which new variants can be derived. This class platform defines how a product build up fit certain production methods and rules governing determination of modules......, assemblies, and parts. Implementation in an industrial company shows that considerable rationalisation effects can be achieved...

  15. Variant view: visualizing sequence variants in their gene context.

    Science.gov (United States)

    Ferstay, Joel A; Nielsen, Cydney B; Munzner, Tamara

    2013-12-01

    Scientists use DNA sequence differences between an individual's genome and a standard reference genome to study the genetic basis of disease. Such differences are called sequence variants, and determining their impact in the cell is difficult because it requires reasoning about both the type and location of the variant across several levels of biological context. In this design study, we worked with four analysts to design a visualization tool supporting variant impact assessment for three different tasks. We contribute data and task abstractions for the problem of variant impact assessment, and the carefully justified design and implementation of the Variant View tool. Variant View features an information-dense visual encoding that provides maximal information at the overview level, in contrast to the extensive navigation required by currently-prevalent genome browsers. We provide initial evidence that the tool simplified and accelerated workflows for these three tasks through three case studies. Finally, we reflect on the lessons learned in creating and refining data and task abstractions that allow for concise overviews of sprawling information spaces that can reduce or remove the need for the memory-intensive use of navigation.

  16. Padrões hematológicos em Cebus apella, anestesiados com quetamina

    Directory of Open Access Journals (Sweden)

    Maria Helena Matiko Akao Larsson

    1999-01-01

    Full Text Available Amostras de sangue foram colhidas de 124 macacos-prego (Cebus apella da Fundação Parque Zoológico de São Paulo, anestesiados com quetamina (10 mg/kg, IM, com a finalidade de determinar os seguintes parâmetros hematológicos: contagens globais de hemácias e leucócitos, contagem diferencial de leucócitos, hematócrito, hemoglobina e índices hematimétricos (VCM, HCM e CHCM, expressos em média e desvio padrão. Estudou-se a influência do sexo e da idade sobre os referidos parâmetros.

  17. Gene Variants Reduce Opioid Risks

    Science.gov (United States)

    ... common variant (A). Text Description of Graphic Genetic Markers for Individualized Treatments Dr. Jamie Biswas, Chief of ... other health and disease indications—such as cancer, heart disease, and opportunistic infections.” The studies were supported by ...

  18. Effect of clorophilic juice from germinated corn on seric lipids, hemoglobin, and uric acid Efecto del germinado de maíz sobre el perfil lipídico, la hemoglobina y la uricemia

    Directory of Open Access Journals (Sweden)

    María Luisa Bravo Aguiar

    1998-01-01

    Full Text Available The effect was studied of clorophilic juice from germinated corn on blood seric lipids, uric acid, glucose, hemoglobine and hematocrite. Nine adults with average age 44 years and who presented hypertriglyceridemia received daily 30 ml doses of the juice during 2 months. Initial average concentrations in mg/dl were 6.9 (uric acid, 259 (triglycerides and 199 (total cholesterol; they decreased progressively and significantly at 30, 45 and 60 days of treatment reaching values of 5.0, 171 and 169 respectively (p:0.01 0,0.015 and 0.034. Hemoglobin increased significantly (p:0.008. This natural treatment could be useful in regulating blood lipids and other biologic risk factors for coronary arteriosclerosis, without the toxic efects shown by some lipid control drugs. Se investigó el efecto del jugo clorofílico de germinado de maíz, con una dosis de 30 ml diarios durante dos meses, sobre el perfil lipídico, la glicemia, la uricemia, la hemoglobina y el hematocrito, en nueve adultos con edad promedio de 44 años y que presentaban hipertrigliceridemia como trastorno principal. Las concentraciones promedio iniciales en mgl dl que eran de 6.9 (ácido úrico, 259 (triglicéridos y 199 (colesterol total descendieron en forma progresiva y significativa a los 30, 45 y 60 días de tratamiento hasta valores respectivos de 5.0, 171 y 169 (p = 0.010,0.015 y 0.034 respectivamente. La hemoglobina ascendió de manera progresiva y significativa (p = 0.008 durante el experimento. Este tratamiento natural podría ser útil en la regulación de los lípidos sanguíneos y otros factores biológicos de riesgo para el desarrollo de ateromatosis coronaría, sin los efectos tóxicos que se han demostrado con algunas drogas hipolipemiantes.

  19. Frecuencia de la hemoglobina S en cinco poblaciones mexicanas y su importancia en la salud pública Hemoglobin S frequency in five Mexican populations and its importance in public health

    Directory of Open Access Journals (Sweden)

    Rosenda I Peñaloza-Espinosa

    2008-08-01

    Full Text Available OBJETIVO: Informar la frecuencia de heterocigotos para la hemoglobina S (HbS en cinco poblaciones mexicanas y el haplotipo en cinco muestras con HbS y subrayar su relevancia en la salud pública. MATERIAL Y MÉTODOS: Se tomó una muestra de sangre periférica en 162 individuos no relacionados provenientes de tres poblaciones nahuas (Atocpan y Tlacotenco, DF, e Ixhuatlancillo, Veracruz, y en 131 mestizos (Coyolillo y Poza Rica, Veracruz, previo consentimiento informado. Se determinó el tipo de hemoglobina por electroforesis y se extrajo el DNA de leucocitos de cinco muestras en las que se determinó el haplotipo por PCR y corte con restrictasas. RESULTADOS: Entre los nahuas se reconoció un heterocigoto HbAS (0.6% y 18 en mestizos (13.7%. Se identificaron cuatro haplotipos Bantu y uno Benin. CONCLUSIONES: Estos hallazgos son importantes en términos de la salud pública en poblaciones con alta frecuencia de HbS, para dar información y consejo genético a los portadores y la atención médica oportuna y adecuada a los pacientes.OBJECTIVE: To provide information regarding the heterozygote frequency for hemoglobin S (HbS in five Mexican populations, the Haplotype in five S chromosomes, and underscore its importance for public health. MATERIAL AND METHODS: A total of 162 samples from three Nahua populations (Atocpan and Tlacotenco, DF, and Ixhuatlancillo, Veracruz and 131 from mestizo populations (Coyolillo and Poza Rica, Veracruz were studied after obtaining informed consent. The hemoglobin type was determined by electrophoresis, and DNA in leucocytes was obtained from five HbS samples. The haplotype was determined by PCR and cut with restrictases, according to literature. RESULTS:We found one heterozygote for hemoglobin S (0.6% among Nahua and 18 among Mestizo groups (13.7%. Four haplotypes were Bantu and one was Benin. CONCLUSIONS: These findings are important to public health for populations with a high frequency of HbS, to inform and provide

  20. A importância da eletroforese de hemoglobina na orientação genética para síndrome falciforme

    Directory of Open Access Journals (Sweden)

    Júlio Boschini Filho

    2016-10-01

    Full Text Available Introdução: As hemoglobinopatias são distúrbios genéticos, em geral de herança recessiva. O diagnóstico precoce possibilita o aconselhamento genético com finalidade de orientar a respeito do planejamento familiar, ajudando a entender como a hereditariedade pode colaborar para a ocorrência ou risco de recorrência de doenças genéticas, como é o caso da síndrome falciforme. Objetivo: realizar a orientação e o encaminhamento para aconselhamento genético dos pacientes que foram diagnosticados com síndrome falciforme e em seus familiares, visando a prevenção da recorrência da doença nas próximas gerações. Casuística e método: consistiu na entrevista e orientação para os portadores da síndrome falciforme. Usamos como método de diagnóstico a eletroforese alcalina (pH 8,6 para caracterização do tipo de hemoglobinopatia. Resultado: observamos que ainda existe pouca compreensão dos pacientes e dos seus familiares sobre sua patologia e mecanismo de transmissão. Vimos que 25% dos familiares de primeiro não possuem conhecimento sobre portar um tipo de síndrome falcêmica. Conclusão: o desconhecimento da doença impede uma prevenção eficaz, o que acarreta altos custos para o Governo e para Saúde na questão do tratamento das Síndromes Falciformes, permitindo recorrência da morbidade. Por esse motivo, é fundamental que esse tipo de serviço seja amplificado.

  1. Nevo de Sutton simulando nevo em cocar: relato de caso

    OpenAIRE

    Zanini, Maurício; Machado Filho,Carlos D'Apparecida; Paschoal, Francisco Macedo; Le Vocci, Francisco

    2004-01-01

    Os autores relatam um caso de nevo halo de Sutton simulando clinicamente o nevo em cocar. Nevo em cocar é uma rara variante do nevo nevomelanocítico adquirido que apresenta característico aspecto de lesão em alvo. Pode determinar dificuldade diagnóstica com nevo nevomelanocítico displásico, melanoma e nevo halo de Sutton.

  2. Estado nutricional de lactentes em áreas periféricas de Fortaleza

    Directory of Open Access Journals (Sweden)

    Nadia Tavares SOARES

    2000-08-01

    Full Text Available O presente estudo foi realizado com a finalidade de caracterizar a prevalência da má nutrição entre crianças menores de um ano vinculadas ao Fundo Cristão para Crianças em dois bairros periféricos de Fortaleza: Presidente Kennedy e Álvaro Weine. Desnutrição protéico-energética, obesidade e anemia ferropriva foram diagnosticadas através dos seguintes indicadores: peso ao nascer +2 desvios-padrão da mediana de referência do National Center for Health Statistics, hemoglobina < 11 g/dl, hematócrito < 32%, volume corpuscular médio <72 fl e hemoglobina corpuscular média < 24 pg. O peso ao nascer foi obtido através da entrevista domiciliar, enquanto que as demais medidas antropométricas e as amostras de sangue foram colhidas em uma das unidades do Fundo Cristão para Crianças, seguindo os procedimentos técnicos recomendados. Das 110 crianças catalogadas, 96 foram pesadas e medidas e 75 fizeram o exame de sangue. A análise dos dados revelou 7% de baixo peso ao nascer, 10% de desnutrição crônica, 8% de obesidade e 60% de anemia. Possivelmente, a dieta que as crianças receberam contribuiu para o comprometimento nutricional encontrado. Parece essencial a realização de mais estudos sobre prática alimentar nestas comunidades.

  3. Estado nutricional de lactentes em áreas periféricas de Fortaleza

    Directory of Open Access Journals (Sweden)

    SOARES Nadia Tavares

    2000-01-01

    Full Text Available O presente estudo foi realizado com a finalidade de caracterizar a prevalência da má nutrição entre crianças menores de um ano vinculadas ao Fundo Cristão para Crianças em dois bairros periféricos de Fortaleza: Presidente Kennedy e Álvaro Weine. Desnutrição protéico-energética, obesidade e anemia ferropriva foram diagnosticadas através dos seguintes indicadores: peso ao nascer +2 desvios-padrão da mediana de referência do National Center for Health Statistics, hemoglobina < 11 g/dl, hematócrito < 32%, volume corpuscular médio <72 fl e hemoglobina corpuscular média < 24 pg. O peso ao nascer foi obtido através da entrevista domiciliar, enquanto que as demais medidas antropométricas e as amostras de sangue foram colhidas em uma das unidades do Fundo Cristão para Crianças, seguindo os procedimentos técnicos recomendados. Das 110 crianças catalogadas, 96 foram pesadas e medidas e 75 fizeram o exame de sangue. A análise dos dados revelou 7% de baixo peso ao nascer, 10% de desnutrição crônica, 8% de obesidade e 60% de anemia. Possivelmente, a dieta que as crianças receberam contribuiu para o comprometimento nutricional encontrado. Parece essencial a realização de mais estudos sobre prática alimentar nestas comunidades.

  4. Características morfoanatômicas da epiderme foliar de plantas variantes e não variantes somaclonais de bananeiras (Musa sp. Colla cv. Prata-anã cultivadas in vitro Morphoanatomical characteristics of the leaf epidermis of variant plants and somaclonal non-variants of banana trees (Musa sp. Colla cv. Prata-anã cultivated in vitro

    Directory of Open Access Journals (Sweden)

    Guilherme Araújo Lacerda

    2008-03-01

    Full Text Available A variação somaclonal corresponde ao aparecimento de plantas anormais durante o processo de multiplicação in vitro, principalmente relacionada à estatura, no caso o gigantismo. O objetivo deste trabalho foi averiguar as diferenças morfoanatômicas da epiderme foliar na tentativa de diferenciar as plantas de 'Prata-anã' em relação aos seus variantes somaclonais. A análise por microscopia eletrônica de varredura mostrou uma diferença significativa entre o diâmetro polar dos estômatos da 'Prata-anã' não variante e suas variantes, ambas em condições in vitro, observando-se que o mesmo não ocorre para as plantas in vivo. O número médio de estômatos é menor nas plantas variantes somaclonais, porém sem diferenças significativas a não ser para a planta PIII. A descamação de cera é evidente somente nas plantas variantes de ambos os materiais (in vitro e in vivo. Conclui-se que os caracteres morfoanatômicos da epiderme foliar, como densidade estomática, diâmetro estomático polar e a uniformidade da cera atuam como marcadores morfológicos para caracterizar as plantas micropropagadas de 'Prata-anã' em relação aos seus variantes somaclonais para a característica gigantismo.Somaclonal variation corresponds to the emergence of abnormal plants during the process of multiplication in vitro, mainly related to stature, in the case the gigantism. The aim of this work was to discover morphoanatomical differences of the leaf epidermis in an attempt to differentiate plants of "Prata-anã" from their somaclonal variants. Analysis by scanning electronic microscopy showed significant difference between the polar diameter of the stomata of the "Prata-anã" non-variant and its variants, both in vitro. The same does not happen for plants in vivo. The average number of stomata is lower in the somaclonal variant plants, but without significant differences except for plant PIII. Wax peeling is only evident in the variant plants of both the

  5. Variante de Dandy Walker: relato de caso = Dandy Walker variant: a case report

    Directory of Open Access Journals (Sweden)

    Khan, Richard Lester et al.

    2009-01-01

    Full Text Available Objetivos: relatar o caso de um paciente com variante de Dandy Walker, chamando atenção para a importância da suspeita, investigação e manejo das repercussões clínicas. Descrição do caso: é relatado o caso de um paciente do sexo masculino, com quadro clínico e radiológico típico da Variante de Dandy Walker. Durante o pré-natal, através de ecografia obstétrica com 23 semanas e 3 dias, apresentou alterações sugestivas de Síndrome de Dandy Walker. Ao nascimento apresentou exame físico com fenda palatina, criptorquidia à direita, hexodactilia em ambos os pés. Apresentava ainda ecocardiograma com forame oval patente e persistência do canal arterial. O diagnóstico foi estabelecido através da ressonância magnética realizada após o nascimento, que evidenciava hipoplasia do vermis cerebelar, alargamento da fossa posterior e leve dilatação ventricular. Conclusões: este artigo procura caracterizar a variante de Dandy Walker, que é uma malformação congênita do sistema nervoso central e é o tipo mais comum da Síndrome de Dandy Walker. Seu fenótipo é variável, devendo-se sempre pesquisar malformações tanto intra quanto extracranianas, visto que o risco de mortalidade pós-natal aumenta quando existe esta associação. O tratamento envolve equipe multidisciplinar e o prognóstico é reservado, variando conforme o fenótipo.

  6. Myostatin: genetic variants, therapy and gene doping

    Directory of Open Access Journals (Sweden)

    André Katayama Yamada

    2012-09-01

    Full Text Available Since its discovery, myostatin (MSTN has been at the forefront of muscle therapy research because intrinsic mutations or inhibition of this protein, by either pharmacological or genetic means, result in muscle hypertrophy and hyperplasia. In addition to muscle growth, MSTN inhibition potentially disturbs connective tissue, leads to strength modulation, facilitates myoblast transplantation, promotes tissue regeneration, induces adipose tissue thermogenesis and increases muscle oxidative phenotype. It is also known that current advances in gene therapy have an impact on sports because of the illicit use of such methods. However, the adverse effects of these methods, their impact on athletic performance in humans and the means of detecting gene doping are as yet unknown. The aim of the present review is to discuss biosynthesis, genetic variants, pharmacological/genetic manipulation, doping and athletic performance in relation to the MSTN pathway. As will be concluded from the manuscript, MSTN emerges as a promising molecule for combating muscle wasting diseases and for triggering wide-ranging discussion in view of its possible use in gene doping.Desde sua descoberta, a miostatina (MSTN entrou na linha de frente em pesquisas relacionadas às terapias musculares porque mutações intrínsecas ou inibição desta proteína tanto por abordagens farmacológicas como genéticas resultam em hipertrofia muscular e hiperplasia. Além do aumento da massa muscular, a inibição de MSTN potencialmente prejudica o tecido conectivo, modula a força muscular, facilita o transplante de mioblastos, promove regeneração tecidual, induz termogênese no tecido adiposo e aumenta a oxidação na musculatura esquelética. É também sabido que os atuais avanços em terapia gênica têm uma relação com o esporte devido ao uso ilícito de tal método. Os efeitos adversos de tal abordagem, seus efeitos no desempenho de atletas e métodos para detectar doping genético s

  7. Data-variant kernel analysis

    CERN Document Server

    Motai, Yuichi

    2015-01-01

    Describes and discusses the variants of kernel analysis methods for data types that have been intensely studied in recent years This book covers kernel analysis topics ranging from the fundamental theory of kernel functions to its applications. The book surveys the current status, popular trends, and developments in kernel analysis studies. The author discusses multiple kernel learning algorithms and how to choose the appropriate kernels during the learning phase. Data-Variant Kernel Analysis is a new pattern analysis framework for different types of data configurations. The chapters include

  8. Correlações entre medidas ultra-sonográficas do coração e o déficit de hemoglobina em fetos de gestantes isoimunizadas

    OpenAIRE

    Marilia Zicker Hanan

    2007-01-01

    Introdução: a doença hemolítica perinatal (DHPN), secundária à sensibilização materna por antígenos eritrocitários, representa não só a causa principal, mas, sobretudo, causa evitável de anemia fetal e neonatal. Para o acompanhamento e tratamento adequados da DHPN, é necessário o diagnóstico preciso do grau de anemia fetal. A busca atual por métodos diagnósticos não invasivos de anemia fetal visa à redução dos riscos e do agravamento da sensibilização materna associados aos procedimentos i...

  9. Importância da hemoglobina glicada no controle do diabetes mellitus e na avaliação de risco das complicações crônicas Glycohemoglobin importance in the diabetes mellitus control and in the risk evaluation of chronic complications

    Directory of Open Access Journals (Sweden)

    Nairo Massakazu Sumita

    2008-06-01

    Full Text Available O diabetes mellitus (DM continua sendo objeto de pesquisa, dadas as constantes informações que os estudos clínicos e os novos recursos laboratoriais incorporam à prática médica a cada dia e com maiores rapidez e eficiência. Níveis glicêmicos persistentemente elevados são danosos ao organismo e o descontrole prolongado resulta em complicações, incluindo danos em diversos tecidos, perda da função normal e falência de vários órgãos. Para o acompanhamento do portador de DM, a hemoglobina glicada (A1C tem se firmado como ferramenta útil depois de ter sido validada pelos dois estudos clínicos mais importantes sobre a avaliação do impacto do rígido controle glicêmico sobre a incidência e a progressão das complicações do diabetes: o Diabetes Control and Complications Trial (DCCT, 1993 e o United Kingdom Prospective Diabetes Study (UKPDS, 1998. Essas pesquisas demonstraram que manter o nível de A1C abaixo de 7% reduz o risco de desenvolvimento das complicações dessa doença. O Grupo Interdisciplinar de Padronização da Hemoglobina Glicada - A1C, criado pela associação de diversas sociedades científicas e farmacêuticas do Brasil, publicou, em 2004, um documento de posicionamento oficial acerca da importância da A1C para a avaliação do controle glicêmico, abordando os principais aspectos clínicos e laboratoriais, incluindo as condições de variação pré-analítica e analítica. Foram estabelecidas as recomendações a respeito das indicações do teste e dos valores ideais de controle para adultos, crianças e idosos. Segundo este posicionamento, os testes de A1C devem ser realizados pelo menos duas vezes ao ano por todos os portadores de DM. Quando os resultados não forem adequados e/ou forem realizadas alterações no esquema terapêutico, a dosagem deve ser feita depois de três meses. A dosagem está indicada tanto para os portadores de diabetes mellitus tipo 1 (DM1 quanto tipo 2 (DM2, sendo que a meta a ser

  10. Certain variants of multipermutohedron ideals

    Indian Academy of Sciences (India)

    016-0313-4. Certain variants of multipermutohedron ideals. AJAY KUMAR1,2 and CHANCHAL KUMAR1,∗. 1Indian Institute of ... 2010 Mathematics Subject Classification. 05E40 .... eral questions and conjectures from [10] and [5]. In particular ...

  11. Numerical calculation of spatially variant anisotropic metamaterials

    Science.gov (United States)

    Gulib, Asad Ullah Hil

    3D printing, or additive manufacturing, is rapidly evolving into a mainstream manufacturing technology that is creating new opportunities for electromagnetics and circuits. 3D printing permits circuits to fully utilize the third dimension allowing more functions in the same amount of space and allows the devices to have arbitrary form factors. 3D printing is letting us discover new physics that is not possible in standard 2D circuits and devices. However, evolving electromagnetics and circuits into three dimensions introduces some serious problems like thermal management, interference, and mutual coupling between the components which degrades performance and hurts signal integrity. Metamaterials are engineered composites that exhibit extreme electromagnetic properties and allow extraordinary control over electromagnetic fields. The EM Lab is developing spatially-variant anisotropic metamaterials (SVAMs) as a solution to mitigate mutual coupling between components. The concept of SVAMs is to electrically stretch the space between components to reduce mutual coupling. To do this, alternating layers of different dielectric must bisect adjacent components. However, the overall dielectric fill must also conform around dozens of electrical components and be smooth, continuous, and defect free. The research described here is the first prototype of an algorithm which generates a SVAM infill between all of the electrical components of a circuit in order to reduce the mutual coupling.

  12. Anemias: caracterização e implicações em Medicina Dentária

    OpenAIRE

    Rocha, Marta Alexandra de Almeida

    2011-01-01

    Tese de mestrado, Medicina Dentária, Universidade de Lisboa, Faculdade de Medicina Dentária, 2011 A anemia é uma das várias patologias sistémicas que têm manifestações orais. Esta é uma disfunção hematológica que resulta de uma diminuição no nível normal da hemoglobina (Hb) circulante. O objectivo principal desta dissertação é abordar os tipos de anemia que têm manifestações e implicações em Medicina Dentária. Para tal, foi realizada uma pesquisa de artigos científicos online, na base de d...

  13. Impact of preoperative levels of hemoglobin and albumin on the survival of pancreatic carcinoma Impacto de los niveles preoperatorios de hemoglobina y albúmina en la supervivencia del carcinoma de páncreas

    Directory of Open Access Journals (Sweden)

    J. Ruiz-Tovar

    2010-11-01

    áncreas entre 1999 y 2003, para identificar posibles factores pronósticos. Resultados: De los 59 pacientes, 32 eran varones y 27 mujeres, con una edad media de 63,8 años. Todos los pacientes fueron operados, realizándose cirugía paliativa en el 32% y resección tumoral en el 68%, incluyendo duodenopancreatectomías cefálicas en el 51% y pancreatectomías distales en el 17%. La mediana de supervivencia global fue de 14 meses (intervalo 1-110. Observamos que los niveles preoperatorios de hemoglobina inferiores a 12 g/dl (p = 0,0006 y de albúmina sérica por debajo de 2,8 g/dl (p = 0,021 se asocian a menor supervivencia global. Conclusión: Los niveles preoperatorios de hemoglobina y albúmina pueden ser indicadores pronósticos en el cáncer de páncreas.

  14. Dinâmica populacional de Boophilus microplus (Canestrini, 1887 em bovinos leiteiros mantidos em manejo de pastejo rotativo de capim-elefante

    Directory of Open Access Journals (Sweden)

    Kasai N.

    2000-01-01

    Full Text Available De maio de 1996 a abril de 1998, avaliou-se a dinâmica do parasitismo pelo Boophilus microplus em 20 novilhas mestiças, submetidas ao manejo de rotação em piquetes de capim-elefante. Os animais, pesados a cada seis meses, foram distribuídos em dois grupos de 10, sendo realizados tratamentos acaricidas em um deles (grupo tratado. As curvas de infestação nos grupos controle e tratado apresentaram padrões semelhantes, com picos de parasitismo ocorrendo na mesma época. A menor carga parasitária ocorreu no inverno. Na primavera houve um grande pico de infestação por carrapatos, seguido de outro maior em fevereiro. A partir do outono, a carga parasitária declinou naturalmente. Não se obteve associação entre a dinâmica da infestação pelo B. microplus e variáveis climáticas analisadas (P>0,05. Não houve diferença estatística entre as médias de peso dos dois lotes (P>0,05. Observou-se que os picos de fêmeas ingurgitadas nos bovinos corresponderam às quedas nos valores de hemoglobina nestes animais (P<0,01. A dinâmica do parasitismo pelo B. microplus em bovinos sob manejo de rotação de pastagens de capim-elefante mostrou-se semelhante a outros trabalhos conduzidos sob manejo convencional sem o uso de rotação.

  15. Anemia em adolescentes segundo maturação sexual Anemia among adolescents according to sexual maturation

    Directory of Open Access Journals (Sweden)

    Bianca Assunção Iuliano

    2004-03-01

    Full Text Available OBJETIVO: Verificar a prevalência de anemia em adolescentes (hemoglobina0,05. Observou-se aparente aumento do nível médio de hemoglobina com o desenvolvimento do adolescente. Detectou-se anemia em 11,0% dos adolescentes, a maioria na fase púbere, classificada como ''prevalência leve'' segundo a World Health Organization. Não foi encontrada associação entre indicadores sociais e anemia. CONCLUSÃO: O estudo apontou baixa prevalência de anemia, mas acima do esperado entre púberes de escola particular e indica tendência de aumento dos níveis de hemoglobina com o desenvolvimento sexual dos adolescentes. Devem ser realizados novos estudos de prevalência de anemia para se determinar sua causa entre adolescentes de diferentes níveis socioeconômicos.OBJECTIVE: To assess the prevalence of anemia (hemoglobin level <12g/dL in adolescents, according to their sexual maturation stage. METHODS: A cross-sectional study was conducted with all adolescents enrolled in 5th - 8th grades in a private school in the city of São Paulo. Their hemoglobin level was measured (using Hemocue® and sexual development was self-evaluated (with the aid of pictures of the maturation stages proposed by Tanner. The social indicators evaluated were the per capita family income and maternal schooling. Student t test and non-parametric Kruskal-Wallis test were used for mean comparison and Chi-square-test for associations (p<0.05. RESULTS: We analyzed 118 students, of which 66.9% were females (aged 12.2±1.13 years and 33.1% were males (aged 12.0±1.18 years. The mean hemoglobin level was 13.2±1.08 g/dL for females and 13.3±1.21 g/dL for males, with no significant difference. An apparent increase in the mean hemoglobin level was verified along with sexual development of the adolescents. Anemia was detected in 11% of them, most in the pubertal stage, which is classified by the World Health Organization as ''mild prevalence''. No association was found between social

  16. Iron deficiency decreases hemolysis in sickle cell anemia Anemia ferropriva diminui hemólise em anemia falciforme

    Directory of Open Access Journals (Sweden)

    Oswaldo Castro

    2009-02-01

    Full Text Available A woman with homozygous sickle cell disease developed severe iron deficiency due to long-standing uterine bleeding. At this point, the serum lactic dehydrogenase level was normal and the reticulocyte count was only minimally elevated. This suggested that the low red cell hemoglobin concentration that resulted from iron deficiency also decreased Hb S polymerization and lowered the hemolytic rate. Iron replacement led first to a substantially improved hemoglobin concentration with only a minimal increase in the hemolytic rate and secondarily to a modest further improvement in the hemoglobin concentration and a marked increase in the hemolytic rate. The hematologic changes observed in this patient, and those in other iron deficient sickle cell patients reported in the literature, suggest that it may be appropriate to consider the induction of an intermediate iron deficient stage as experimental treatment in adult sickle cell patients.Uma mulher com anemia falciforme homozigose para a Hb S evoluiu com anemia ferropriva grave devido a sangramento uterino prolongado. A dosagem de dehidrogenase lática era normal e a contagem de reticulócitos estava levemente aumentada. Isto sugere que concentrações baixas de hemoglobina, que resulta de anemia ferropriva, também diminuem a polimeração de Hb S e reduz a taxa de hemólise. O complemento de ferro levou, primeiramente, a uma concentração substancialmente maior de hemoglobina com apenas um aumento mínimo na taxa hemolítica e subsequentemente a um aumento leve adicional na concentração da hemoglobina e um aumento notável na taxa hemolítica. As mudanças hematológicas observadas nesta paciente e aquelas em outras pacientes com anemia falciforme e também deficientes de ferro relatadas na literatura sugerem que pode ser interessante considerar a indução de deficiência de ferro como tratamento experimental em pacientes adultos com anemia falciforme.

  17. Swine Influenza/Variant Influenza Viruses

    Science.gov (United States)

    ... Address What's this? Submit What's this? Submit Button Influenza Types Seasonal Avian Swine Variant Other Information on Swine Influenza/Variant Influenza Virus Language: English (US) Español Recommend ...

  18. Semantic prioritization of novel causative genomic variants

    OpenAIRE

    Imane Boudellioua; Rozaimi B Mahamad Razali; Maxat Kulmanov; Yasmeen Hashish; Bajic, Vladimir B.; Eva Goncalves-Serra; Nadia Schoenmakers; Gkoutos, Georgios V.; Schofield, Paul N.; Robert Hoehndorf

    2017-01-01

    Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. Here, we demonstrate the PhenomeNET Variant Predictor (PVP) system that exploits semantic technologies and automated rea...

  19. DHAD variants and methods of screening

    Energy Technology Data Exchange (ETDEWEB)

    Kelly, Kristen J.; Ye, Rick W.

    2017-02-28

    Methods of screening for dihydroxy-acid dehydratase (DHAD) variants that display increased DHAD activity are disclosed, along with DHAD variants identified by these methods. Such enzymes can result in increased production of compounds from DHAD requiring biosynthetic pathways. Also disclosed are isolated nucleic acids encoding the DHAD variants, recombinant host cells comprising the isolated nucleic acid molecules, and methods of producing butanol.

  20. Variant Humicola grisea CBH1.1

    Energy Technology Data Exchange (ETDEWEB)

    Goedegebuur, Frits; Gualfetti, Peter; Mitchinson, Colin; Larenas, Edmund

    2017-05-09

    Disclosed are variants of Humicola grisea CeI7A (CBH1.1), H. jecorina CBH1 variant or S. thermophilium CBH1, nucleic acids encoding the same and methods for producing the same. The variant cellulases have the amino acid sequence of a glycosyl hydrolase of family 7A wherein one or more amino acid residues are substituted.

  1. O sevofluorano em cadelas gestantes

    Directory of Open Access Journals (Sweden)

    Matsubara Lídia Mitsuko

    2006-01-01

    Full Text Available Com este experimento, objetivou-se avaliar como a anestesia geral inalatória, com o sevofluorano, interfere nos parâmetros fisiológicos de cadelas gestantes. Nove cadelas sem raça definida, adultas, com idade média de três anos, foram submetidas ao mesmo procedimento anestésico em dois períodos distintos, sendo o primeiro na condição não gestante e o segundo aos 45 dias de gestação. Todas receberam acepromazina (0,05mg kg-1 pela via intravenosa como medicação pré-anestésica, propofol (5mg kg-1 pela mesma via e sevofluorano diluído em oxigênio. As variáveis estudadas foram freqüência cardíaca e respiratória, pressão arterial sistólica, média e diastólica, temperatura retal, pressão parcial de CO2 ao final da expiração, saturação de oxigênio nas hemoglobinas, pH sangüíneo, pressão parcial arterial de oxigênio, pressão parcial arterial de CO2, bicarbonato e excesso de base. Os parâmetros foram avaliados antes da medicação pré-anestésica (M0 e 15 minutos após (M1, 15 minutos após a estabilização da anestesia inalatória (M2 e, depois, a cada 15 minutos durante 60 minutos (M3, M4, M5 e M6, com exceção das variáveis hemogasométricas que foram avaliadas em M0, M2 e M6. A análise estatística foi realizada com Análise de Variância e teste de Tukey, sendo considerado o nível de significância de 5%. A freqüência cardíaca elevou-se na paciente gestante no momento basal e 15 minutos após a medicação pré-anestésica, sendo observado ainda diminuição da pressão arterial e da temperatura retal nas gestantes. Os resultados obtidos permitiram concluir que o protocolo anestésico não alterou as variáveis mensuradas neste experimento, podendo ser utilizado com segurança para as cadelas, se houver a necessidade de intervenção cirúrgica e/ou anestésica aos 45 dias de sua gestação.

  2. Coronary artery anatomy and variants.

    Science.gov (United States)

    Malagò, Roberto; Pezzato, Andrea; Barbiani, Camilla; Alfonsi, Ugolino; Nicolì, Lisa; Caliari, Giuliana; Pozzi Mucelli, Roberto

    2011-12-01

    Variants and congenital anomalies of the coronary arteries are usually asymptomatic, but may present with severe chest pain or cardiac arrest. The introduction of multidetector CT coronary angiography (MDCT-CA) allows the detection of significant coronary artery stenosis. Improved performance with isotropic spatial resolution and higher temporal resolution provides a valid alternative to conventional coronary angiography (CCA) in many patients. MDCT-CA is now considered the ideal tool for three-dimensional visualization of the complex and tortuous anatomy of the coronary arteries. With multiplanar and volume-rendered reconstructions, MDCT-CA may even outperform CCA in determining the relative position of vessels, thus providing a better view of the coronary vascular anatomy. The purpose of this review is to describe the normal anatomy of the coronary arteries and their main variants based on MDCT-CA with appropriate reconstructions.

  3. Coronary artery anatomy and variants

    Energy Technology Data Exchange (ETDEWEB)

    Malago, Roberto; Pezzato, Andrea; Barbiani, Camilla; Alfonsi, Ugolino; Nicoli, Lisa; Caliari, Giuliana; Pozzi Mucelli, Roberto [Policlinico G.B. Rossi, University of Verona, Department of Radiology, Verona (Italy)

    2011-12-15

    Variants and congenital anomalies of the coronary arteries are usually asymptomatic, but may present with severe chest pain or cardiac arrest. The introduction of multidetector CT coronary angiography (MDCT-CA) allows the detection of significant coronary artery stenosis. Improved performance with isotropic spatial resolution and higher temporal resolution provides a valid alternative to conventional coronary angiography (CCA) in many patients. MDCT-CA is now considered the ideal tool for three-dimensional visualization of the complex and tortuous anatomy of the coronary arteries. With multiplanar and volume-rendered reconstructions, MDCT-CA may even outperform CCA in determining the relative position of vessels, thus providing a better view of the coronary vascular anatomy. The purpose of this review is to describe the normal anatomy of the coronary arteries and their main variants based on MDCT-CA with appropriate reconstructions. (orig.)

  4. Clinicopathologic Variants of Mycosis Fungoides.

    Science.gov (United States)

    Muñoz-González, H; Molina-Ruiz, A M; Requena, L

    2017-04-01

    Mycosis fungoides (MF) is the most common primary cutaneous T-cell lymphoma. The clinical course of the disease is typically characterized by progression from a nonspecific phase of erythematous macules to the appearance of plaques and ultimately, in some patients, tumors. However, numerous clinical and histopathologic variants of MF with specific therapeutic and prognostic implications have been described in recent decades. Clarification of the differential diagnosis can be frustrated by the wide range of clinical manifestations and histopathologic patterns of cutaneous infiltration, particularly in the early phases of the disease. In this paper, we review the main clinical, histopathologic, and immunohistochemical characteristics of the variants of MF described in the literature in order to facilitate early diagnosis of the disease. Copyright © 2016 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  5. Anemia em gestantes brasileiras antes e após a fortificação das farinhas com ferro Anemia en gestantes brasileñas antes y después de la fortificación de harinas con hierro Anemia in Brazilian pregnant women before and after flour fortification with iron

    OpenAIRE

    Elizabeth Fujimori; Ana Paula Sayuri Sato; Sophia Cornbluth Szarfarc; Gloria Valeria da Veiga; Valterlinda Alves de Oliveira; Célia Colli; Regilda Saraiva dos Reis Moreira-Araújo; Ilma Kruze Grande de Arruda; Taqueco Teruya Uchimura; Gisela Soares Brunken; Lucia Kiyoko Ozaki Yuyama; Pascoal Torres Muniz; Silvia Eloiza Priore; Maria Alice Tsunechiro; Andréa das Graças Ferreira Frazão

    2011-01-01

    OBJETIVO: Comparar prevalência de anemia e valores de hemoglobina (Hb) em gestantes brasileiras, antes e após a fortificação das farinhas com ferro. MÉTODOS: Estudo de avaliação de painéis repetidos, desenvolvido em serviços públicos de saúde de municípios das cinco regiões brasileiras. Dados retrospectivos foram obtidos de 12.119 prontuários de gestantes distribuídas em dois grupos: antes da fortificação, com parto anterior a junho de 2004, e após a fortificação, com última menstruação após ...

  6. Microcystic Variant of Urothelial Carcinoma

    Directory of Open Access Journals (Sweden)

    Anthony Kodzo-Grey Venyo

    2013-01-01

    Full Text Available Background. Microcystic variant of urothelial carcinoma is one of the new variants of urothelial carcinoma that was added to the WHO classification in 2004. Aims. To review the literature on microcystic variant of urothelial carcinoma. Methods. Various internet search engines were used to identify reported cases of the tumour. Results. Microscopic features of the tumour include: (i Conspicuous intracellular and intercellular lumina/microcysts encompassed by malignant urothelial or squamous cells. (ii The lumina are usually empty; may contain granular eosinophilic debris, mucin, or necrotic cells. (iii The cysts may be variable in size; round, or oval, up to 2 mm; lined by urothelium which are either flattened cells or low columnar cells however, they do not contain colonic epithelium or goblet cells; are infiltrative; invade the muscularis propria; mimic cystitis cystica and cystitis glandularis; occasionally exhibit neuroendocrine differentiation. (iv Elongated and irregular branching spaces are usually seen. About 17 cases of the tumour have been reported with only 2 patients who have survived. The tumour tends to be of high-grade and high-stage. There is no consensus opinion on the best option of treatment of the tumour. Conclusions. It would prove difficult at the moment to be dogmatic regarding its prognosis but it is a highly aggressive tumour. New cases of the tumour should be reported in order to document its biological behaviour.

  7. Anemia entre pre-escolares - um problema de saude publica em Belo Horizonte, Brasil

    Directory of Open Access Journals (Sweden)

    Thais de Souza Chaves de Oliveira

    2014-01-01

    Full Text Available O artigo tem por objetivo determinar a prevalência de anemia em crianças matriculadas em creches da regional Centro-Sul de Belo Horizonte (MG, identificando fatores biológicos e socioeconômicos associados. Estudo transversal descritivo realizado em 18 creches. Foram avaliadas 373 crianças com base em amostragem estratificada por instituição participante. A hemoglobina (Hb sérica foi determinada por punção capilar e leitura em β-hemoglobinômetro, adotando-se pontos de corte para anemia de Hb < 11,0g/dL para crianças de seis a 60 meses e Hb < 11,5g/dL para aquelas com idade superior, preconizados pela OMS. O estado nutricional foi definido por aferição do peso e altura e confecção dos índices Peso/Idade (P/I, Estatura/Idade (E/I e IMC/Idade (IMC/I. Entre os participantes 54% eram meninas. A média de idade foi de 38,1 ± 6,2 meses. A prevalência global de anemia foi de 38,3%, sendo superior nas crianças com idade inferior ou igual a 24 meses (56,1%. Encontrou-se associação significativa entre anemia e os fatores menor idade da criança, menor idade materna e baixa renda familiar. O estudo mostrou que anemia em crianças de creches de Belo Horizonte constitui relevante problema de saúde pública, sinalizando a necessidade de se implantar ações específicas para mitigação dos riscos por ele apontados.

  8. Interação entre Hb B2 e Hb S Interaction between Hb B2 and Hb S

    Directory of Open Access Journals (Sweden)

    Natália Ferreira

    2010-02-01

    Full Text Available As hemoglobinopatias e talassemias constituem as afecções genéticas mais comuns, apresentando-se, na maioria dos casos, em heterozigose. Diante da diversidade de hemoglobinas variantes encontrada na população brasileira, metodologias específicas e complementares para um diagnóstico laboratorial preciso, capaz de elucidar possíveis interações entre estas variantes genéticas, são necessárias. Este relato de caso descreve a interação entre hemoglobina B2 e a hemoglobina S em um indivíduo do sexo feminino, caucasoide, proveniente da região Sudeste do Brasil, identificada por meio de técnicas eletroforéticas em diferentes pH, cromatografia líquida de alta performance e PCR- RFLP. Visto que a hemoglobina B2 coelui com a hemoglobina S na análise cromatográfica e dificilmente é visualizada em eletroforese pH alcalino, devido à sua baixa concentração, justifica-se a necessidade da associação de testes laboratoriais, inclusive moleculares, na rotina do diagnóstico de hemoglobinas para a correta identificação do perfil de hemoglobinas do indivíduo e real frequência na população brasileira. Rev. Bras. Hematol. Hemoter.Hemoglobinopathies and thalassemias are the most common genetic diseases, and in most cases, present as heterozygous. Due to the diversity of hemoglobin variants, specific and complementary methodologies are necessary for a precise laboratorial diagnosis, able to elucidate possible interactions between genetic polymorphisms. This case report describes an interaction between hemoglobin B2 and hemoglobin S in a Caucasian woman from the southeastern region of Brazil. This interaction was identified by electrophoresis in different pHs, high performance liquid chromatography and PCR-RFLP. As hemoglobin B2 is eluted in the same window as hemoglobin S in automatic HPLC systems and is hardly seen in alkaline electrophoresis due to its low concentration, the association must be confirmed using additional laboratorial

  9. Variant Interpretation: Functional Assays to the Rescue.

    Science.gov (United States)

    Starita, Lea M; Ahituv, Nadav; Dunham, Maitreya J; Kitzman, Jacob O; Roth, Frederick P; Seelig, Georg; Shendure, Jay; Fowler, Douglas M

    2017-09-07

    Classical genetic approaches for interpreting variants, such as case-control or co-segregation studies, require finding many individuals with each variant. Because the overwhelming majority of variants are present in only a few living humans, this strategy has clear limits. Fully realizing the clinical potential of genetics requires that we accurately infer pathogenicity even for rare or private variation. Many computational approaches to predicting variant effects have been developed, but they can identify only a small fraction of pathogenic variants with the high confidence that is required in the clinic. Experimentally measuring a variant's functional consequences can provide clearer guidance, but individual assays performed only after the discovery of the variant are both time and resource intensive. Here, we discuss how multiplex assays of variant effect (MAVEs) can be used to measure the functional consequences of all possible variants in disease-relevant loci for a variety of molecular and cellular phenotypes. The resulting large-scale functional data can be combined with machine learning and clinical knowledge for the development of "lookup tables" of accurate pathogenicity predictions. A coordinated effort to produce, analyze, and disseminate large-scale functional data generated by multiplex assays could be essential to addressing the variant-interpretation crisis. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  10. Gardner's Minichess Variant is solved

    OpenAIRE

    Mhalla, Mehdi; Prost, Frederic

    2013-01-01

    A 5x5 board is the smallest board on which one can set up all kind of chess pieces as a start position. We consider Gardner's minichess variant in which all pieces are set as in a standard chessboard (from Rook to King). This game has roughly 9x10^{18} legal positions and is comparable in this respect with checkers. We weakly solve this game, that is we prove its game-theoretic value and give a strategy to draw against best play for White and Black sides. Our approach requires surprisingly sm...

  11. Seeing engineered loops in a gene delivery vehicle by cryoEM

    OpenAIRE

    Zhou, Z. Hong

    2012-01-01

    In this issue of Structure, Lerch and colleagues present a 4.5 Å cryo electron microscopy (cryoEM) structure of a variant of an adeno-associated virus that has been genetically engineered for liver gene therapy. The identification of two structurally distinct loops flanking the highly conserved jellyroll β barrel highlights the potentials of high-resolution cryoEM.

  12. Histone variants: emerging players in cancer biology

    Science.gov (United States)

    Vardabasso, Chiara; Hasson, Dan; Ratnakumar, Kajan; Chung, Chi-Yeh; Duarte, Luis F.

    2014-01-01

    Histone variants are key players in shaping chromatin structure, and, thus, in regulating fundamental cellular processes such as chromosome segregation and gene expression. Emerging evidence points towards a role for histone variants in contributing to tumor progression, and, recently, the first cancer-associated mutation in a histone variant-encoding gene was reported. In addition, genetic alterations of the histone chaperones that specifically regulate chromatin incorporation of histone variants are rapidly being uncovered in numerous cancers. Collectively, these findings implicate histone variants as potential drivers of cancer initiation and/or progression, and, therefore, targeting histone deposition or the chromatin remodeling machinery may be of therapeutic value. Here, we review the mammalian histone variants of the H2A and H3 families in their respective cellular functions, and their involvement in tumor biology. PMID:23652611

  13. Nested Variant of Urothelial Carcinoma

    Science.gov (United States)

    Venyo, Anthony Kodzo-Grey

    2014-01-01

    Background. Nested variant of urothelial carcinoma was added to the WHO's classification in 2004. Aims. To review the literature on nested variant of urothelial carcinoma. Results. About 200 cases of the tumour have been reported so far and it has the ensuing morphological features: large numbers of small confluent irregular nests of bland-appearing, closely packed, haphazardly arranged, and poorly defined urothelial cells infiltrating the lamina propria and the muscularis propria. The tumour has a bland histomorphologic appearance, has an aggressive biological behaviour, and has at times been misdiagnosed as a benign lesion which had led to a significant delay in the establishment of the correct diagnosis and contributing to the advanced stage of the disease. Immunohistochemically, the tumour shares some characteristic features with high-risk conventional urothelial carcinomas such as high proliferation index and loss of p27 expression. However, p53, bcl-2, or EGF-r immunoreactivity is not frequently seen. The tumour must be differentiated from a number of proliferative lesions of the urothelium. Conclusions. Correct and early diagnosis of this tumour is essential to provide early curative treatment to avoid diagnosis at an advanced stage. A multicentre trial is required to identify treatment options that would improve the outcome of this tumour. PMID:24587796

  14. Reliably Detecting Clinically Important Variants Requires Both Combined Variant Calls and Optimized Filtering Strategies.

    Directory of Open Access Journals (Sweden)

    Matthew A Field

    Full Text Available A diversity of tools is available for identification of variants from genome sequence data. Given the current complexity of incorporating external software into a genome analysis infrastructure, a tendency exists to rely on the results from a single tool alone. The quality of the output variant calls is highly variable however, depending on factors such as sequence library quality as well as the choice of short-read aligner, variant caller, and variant caller filtering strategy. Here we present a two-part study first using the high quality 'genome in a bottle' reference set to demonstrate the significant impact the choice of aligner, variant caller, and variant caller filtering strategy has on overall variant call quality and further how certain variant callers outperform others with increased sample contamination, an important consideration when analyzing sequenced cancer samples. This analysis confirms previous work showing that combining variant calls of multiple tools results in the best quality resultant variant set, for either specificity or sensitivity, depending on whether the intersection or union, of all variant calls is used respectively. Second, we analyze a melanoma cell line derived from a control lymphocyte sample to determine whether software choices affect the detection of clinically important melanoma risk-factor variants finding that only one of the three such variants is unanimously detected under all conditions. Finally, we describe a cogent strategy for implementing a clinical variant detection pipeline; a strategy that requires careful software selection, variant caller filtering optimizing, and combined variant calls in order to effectively minimize false negative variants. While implementing such features represents an increase in complexity and computation the results offer indisputable improvements in data quality.

  15. Avaliação dos níveis séricos de testosterona em pacientes com síndrome da apneia obstrutiva do sono

    OpenAIRE

    Molina,Fernando Drimel; Suman,Marcela; Carvalho,Thiago Bittencourt Ottoni de; Piatto,Vânia Belintani; Taboga,Sebastião Roberto; Maniglia,José Victor; Tognola,Waldir Antônio

    2011-01-01

    Homens com síndrome da apneia obstrutiva do sono (SAOS) podem apresentar diminuição dos níveis de testosterona devido à hipóxia. OBJETIVOS: Relacionar os níveis séricos da testosterona, em pacientes com SAOS, com parâmetros clínico-laboratoriais. MATERIAL E MÉTODOS: Foram revisados 103 prontuários de pacientes com SAOS, entre os anos de 2002 e 2009, e coletados os seguintes dados: idade à época da realização da polissonografia, valores do Hematócrito e Hemoglobina, nível sérico da testosteron...

  16. Heterozigose para hemoglobinopatias em doadores de sangue do Centro de Hemoterapia de Sergipe Heterozigosity to hemoglobinopathies in blood donors from the Hemotherapy Center in Sergipe, NE-Brazil

    Directory of Open Access Journals (Sweden)

    Wanessa L. P. Vivas

    2006-12-01

    Full Text Available As hemoglobinopatias, distúrbios geneticamente determinados da hemoglobina (Hb humana, estão presentes com freqüência elevada em várias partes do mundo, sendo que no Brasil as Hb anormais S e C são as mais prevalentes. Com o objetivo de identificar a presença de portadores saudáveis de genes para hemoglobinopatias entre doadores de sangue do Centro de Hemoterapia do Estado de Sergipe (Hemose, foram analisadas 1.345 amostras de doadores de sangue. Em todas as amostras foram realizados eritrograma automatizado e eletroforese de hemoglobina em acetato de celulose utilizando-se tampão Tris-EDTA-Borato pH 8,6. As amostras que apresentaram hemoglobinas anormais foram submetidas a teste de falcização, teste de solubilidade e Cromatografia Líquida de Alta Performance (HPLC. Foram identificadas 76 amostras com hemoglobinas anormais (5,6%, das quais 55 (4,1% com traço falciforme (Hb AS, 19 (1,4% com Hb AC, uma com Hb AD e outra sugestiva de beta-talassemia. Os resultados encontrados demonstram a necessidade de implantação da triagem para hemoglobinopatias entre doadores de sangue, pois desta maneira o receptor de sangue é beneficiado com produto de melhor qualidade, e o doador com a identificação de uma alteração genética que pode vir a se manifestar em seus descendentes.Hemoglobinopathies are genetically determined disorders that present in significant high frequencies in certain parts of the world. Despite of the existence of hundreds of known hereditary hemoglobinopathies, Brazilian studies have demonstrated that abnormal hemoglobins S and C are the most prevalent. With the objective of identifying the profile of hemoglobinopathies of blood donors at the Hemotherapy Center in the State of Sergipe (Hemose, 1345 samples of blood were analyzed. Initially automatic blood testing and electrophoreses in cellulose acetate using a Tris-EDTA-Borate buffer at pH 8.6 were carried out for all samples. Samples that presented with abnormal

  17. Phytochemical and Biological Studies of <em>Agave em>attenuata>

    Directory of Open Access Journals (Sweden)

    Vincenzo de Feo

    2012-05-01

    Full Text Available The present study was conducted to examine various biological activities of a methanol extract of <em>Agave attenuataem> leaves. GC-MS analysis of the <em>n>-hexane fraction from the extract revealed the presence of 31 compounds, with mono-2-ethylhexyl phthalate (11.37%, 1,2-benzenedicarboxylic acid (6.33%, <em>n>-docosane (6.30% and eicosane (6.02% as the major components. The leaves contained appreciable levels of total phenolic contents (10.541–39.35 GAE, mg/100 g and total flavonoid contents (43.35–304.8 CE, mg/100 g. The extract and some of its fractions showed moderate antimicrobial effects. Leaves extract and fractions also exhibited a good antioxidant potential when measured by DPPH radical scavenging activity and inhibition of lipid peroxidation assays. The hemolytic effect of the plant was found to be in a range of 1.01%–2.64%. From the present study it is concluded that this plant could be used as a source of natural antioxidants and functional food nutraceutical applications.

  18. Impact of <em>ABCB1em> variants on neutrophil depression: a prospective study

    DEFF Research Database (Denmark)

    Bergmann, Troels Korshøj; Andersen, Charlotte Brasch; Gréen, Henrik

    2010-01-01

    The standard treatment for ovarian cancer in advanced stages is surgery followed by taxane-platin therapy. Despite an initial high response rate most patients eventually relapse. The dose limiting toxicities of paclitaxel are neutropenia and neuropathy but the inter-individual variability is large...

  19. Variant-specific immunity to <em>Plasmodium bergheiem> in pregnant mice

    DEFF Research Database (Denmark)

    Megnekou, Rosette; Hviid, Lars; Staalsoe, Trine

    2009-01-01

    for recrudescence-type IEs are related to the protection of pregnant mice from maternal anemia, low birth weight, and decreased litter size. We conclude that the model replicates many of the key parasitological and immunological features of PAM, although the P. berghei genome does not encode proteins homologous...

  20. Isolation and Expression of Glucosinolate Synthesis Genes <em>CYP83A1em> and <em>CYP83B1em> in Pak Choi (<em>Brassica em>rapa> L. ssp. <em>chinensis> var. <em>communis> (N. Tsen & S.H. Lee Hanelt

    Directory of Open Access Journals (Sweden)

    Huasen Wang

    2012-05-01

    Full Text Available <em>CYP83A1em> and <em>CYP83B1em> are two key synthesis genes in the glucosinolate biosynthesis pathway. <em>CYP83A1em> mainly metabolizes the aliphatic oximes to form aliphatic glucosinolate and <em>CYP83B1em> mostly catalyzes aromatic oximes to synthesis corresponding substrates for aromatic and indolic glucosinolates. In this study, two <em>CYP83A1em> genes named <em>BcCYP83A1-1em> (JQ289997, <em>BcCYP83A1-2em> (JQ289996 respectively and one <em>CYP83B1em> (<em>BcCYP83B1em>, HM347235 gene were cloned from the leaves of pak choi (<em>Brassica rapaem> L. ssp. <em>chinensis em>var. <em>communis em>(N. Tsen & S.H. Lee Hanelt “Hangzhou You Dong Er” cultivar. Their ORFs were 1506, 1509 and 1500 bp in length, encoding 501, 502 and 499 amino acids, respectively. The predicted amino acid sequences of <em>CYP83A1-1em>, <em>CYP83A1-2 em>and <em>CYP83B1em> shared high sequence identity of 87.65, 86.48 and 95.59% to the corresponding ones in <em>Arabidopsis>, and 98.80, 98.61 and 98.80% to the corresponding ones in <em>Brassica pekinensis em>(Chinese cabbage, respectively. Quantitative real-time PCR analysis indicated that both <em>CYP83A1em> and <em>CYP83B1em> expressed in roots, leaves and petioles of pak choi, while the transcript abundances of <em>CYP83A1 em>were higher in leaves than in petioles and roots, whereas <em>CYP83B1 em>showed higher abundances in roots. The expression levels of glucosinolate biosynthetic genes were consistent with the glucosinolate profile accumulation in shoots of seven cultivars and three organs. The isolation and characterization of the glucosinolate synthesis genes in pak choi would promote the way for further development of agronomic traits via genetic engineering.

  1. Mitochondrial DNA variants in obesity.

    Directory of Open Access Journals (Sweden)

    Nadja Knoll

    Full Text Available Heritability estimates for body mass index (BMI variation are high. For mothers and their offspring higher BMI correlations have been described than for fathers. Variation(s in the exclusively maternally inherited mitochondrial DNA (mtDNA might contribute to this parental effect. Thirty-two to 40 mtDNA single nucleotide polymorphisms (SNPs were available from genome-wide association study SNP arrays (Affymetrix 6.0. For discovery, we analyzed association in a case-control (CC sample of 1,158 extremely obese children and adolescents and 435 lean adult controls. For independent confirmation, 7,014 population-based adults were analyzed as CC sample of n = 1,697 obese cases (BMI ≥ 30 kg/m2 and n = 2,373 normal weight and lean controls (BMI<25 kg/m2. SNPs were analyzed as single SNPs and haplogroups determined by HaploGrep. Fisher's two-sided exact test was used for association testing. Moreover, the D-loop was re-sequenced (Sanger in 192 extremely obese children and adolescents and 192 lean adult controls. Association testing of detected variants was performed using Fisher's two-sided exact test. For discovery, nominal association with obesity was found for the frequent allele G of m.8994G/A (rs28358887, p = 0.002 located in ATP6. Haplogroup W was nominally overrepresented in the controls (p = 0.039. These findings could not be confirmed independently. For two of the 252 identified D-loop variants nominal association was detected (m.16292C/T, p = 0.007, m.16189T/C, p = 0.048. Only eight controls carried the m.16292T allele, five of whom belonged to haplogroup W that was initially enriched among these controls. m.16189T/C might create an uninterrupted poly-C tract located near a regulatory element involved in replication of mtDNA. Though follow-up of some D-loop variants still is conceivable, our hypothesis of a contribution of variation in the exclusively maternally inherited mtDNA to the observed larger correlations for BMI between mothers and

  2. Hipotensão controlada induzida por halotano em coelhos

    Directory of Open Access Journals (Sweden)

    Nubia Verçosa Figueiredo

    Full Text Available OBJETIVO: Descrever e analisar um estudo experimental com o objetivo de pesquisar o uso do halotano em diferentes concentrações, visando à obtenção de hipotensão induzida ou controlada e à análise das repercussões hemodinâmicas decorrentes do método. MÉTODO: Foram utilizados vinte e nove coelhos (Oryctolagus cuniculus, do tipo Nova Zelândia subdivididos em quatro grupos, dentre os quais havia um controle composto por cinco animais, e outros três contendo oito coelhos cada um. Os grupos I,II e III (n=8 cada foram submetidos a um período de hipotensão induzida, utilizando-se o halotano em concentrações de 1,0%, 1,5% e 2,0%, respectivamente. Foram avaliadas as freqüências cardíaca (FC e respiratória (FR, a pressão arterial média (PAM e a temperatura corporal. No sangue arterial analisaram-se os valores do potencial hidrogeniônico (pH, da pressão parcial do oxigênio (PaO2, da pressão parcial do gás carbônico (PaCO2, do bicarbonato (-HCO3, do excesso de bases (BE, da saturação do oxigênio da hemoglobina (Sat.O2. Estes parâmetros foram obtidos em três momentos: antes (MAnH, durante (MDuH e após (MApH a hipotensão induzida. Acompanhou-se, periodicamente, os reflexos corneano e pupilar e, de forma contínua, o eletrocardiograma. RESULTADOS: A análise estatística dos resultados evidenciou hipotensão e redução de frequência cardíaca com o uso do halotano. O pH dos coelhos é mais alcalino que o do homem. Não obstante haver uma tendência à acidose metabólica, esta decorreu de uma condição transitória, sem comprometer a homeostase. CONCLUSÃO: O halotano é um anestésico seguro e eficaz para promover a hipotensão induzida ou controlada, em coelhos.

  3. Cálculo do volume de sangue necessário para a correção da anemia fetal em gestantes isoimunizadas Blood volume calculation required for the correction of fetal anemia in pregnant women with alloimmunization

    Directory of Open Access Journals (Sweden)

    Mônica Deolindo Santiago

    2008-04-01

    Full Text Available OBJETIVO: obter uma equação capaz de estimar o volume de concentrado de hemácias a ser infundido para correção da anemia em fetos de gestantes portadoras de isoimunização pelo fator Rh, baseado em parâmetros alcançados durante a cordocentese prévia à transfusão intra-uterina. MÉTODOS: em estudo transversal, foram analisadas 89 transfusões intra-uterinas para correção de anemia em 48 fetos acompanhados no Centro de Medicina Fetal do Hospital das Clínicas da Universidade Federal de Minas Gerais. A idade gestacional mediana, no momento da cordocentese, foi de 29 semanas e a média de procedimentos por feto foi de 2,1. A hemoglobina fetal foi dosada antes e após a cordocentese, sendo verificado o volume de concentrado de hemácias transfundido. Para determinação de uma fórmula para estimar o volume sanguíneo necessário para correção da anemia fetal, tomou-se como base o volume necessário para elevar em 1 g% a hemoglobina fetal (diferença entre a concentração de hemoglobina final e a inicial, dividida pelo volume transfundido e o volume de quanto seria necessário para se atingir 14 g%, em análise de regressão múltipla. RESULTADOS: a concentração da hemoglobina pré-transfusional variou entre 2,3 e 15,7 g%. A prevalência de anemia fetal (HbPURPOSE: to obtain an equation to estimate the volume of red blood cells concentrate to be infused to correct anemia in fetuses of pregnant women with Rh factor isoimmunization, based in parameters obtained along the cordocentesis previous to intrauterine transfusion. METHODS: a transversal study analyzing 89 intrauterine transfusions to correct anemia in 48 fetuses followed-up in the Centro de Medicina Fetal do Hospital das Clínicas da Universidade de Minas Gerais. The median gestational age at the cordocentesis was 29 weeks and the average number of procedures was 2.1. Fetal hemoglobin was assayed before and after cordocentesis, leading to the volume of transfused red blood

  4. Efeito da fortificação de farinhas com ferro sobre anemia em pré-escolares, Pelotas, RS Effect of iron fortification of flour on anemia in preschool children in Pelotas, Brazil

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    Maria Cecília Formoso Assunção

    2007-08-01

    Full Text Available OBJETIVO: A fortificação de farinhas com ferro foi estabelecida por lei no Brasil, em 2004. O objetivo do estudo foi avaliar o impacto da fortificação sobre nível de hemoglobina em crianças menores de seis anos. MÉTODOS: O estudo foi realizado em Pelotas, RS, sendo uma série temporal com três avaliações a cada 12 meses. Em maio de 2004, antes da fortificação das farinhas, foram medidos níveis de hemoglobina em amostra probabilística de 453 crianças. Após 12 e 24 meses, foram estudadas amostras de 923 e 863 crianças, respectivamente. RESULTADOS: Os três grupos estudados foram comparáveis em relação a características demográficas e socioeconômicas. No estudo de linha de base, as médias de hemoglobina foram 11,3±2,8 g/dL. Após a fortificação esses valores foram 11,2±2,8 (12 meses e 11,3±2,5 g/dL (24 meses, não havendo diferença estatisticamente significativa entre os três momentos estudados (p=0,16. CONCLUSÕES: Nenhum efeito da fortificação foi observado nos níveis de hemoglobina das crianças estudadas, o que pode ser parcialmente explicado pelo consumo insuficiente de farinhas e/ou pela baixa biodisponibilidade do ferro adicionado.OBJECTIVE: Iron fortification of flour has been sanctioned by the Brazilian government since 2004. The objective of the study was to assess the impact of flour fortification on hemoglobin level in children under six. METHODS: A time-series study was carried out in Pelotas, southern Brazil, consisting of three assessments at a 12-month interval. In May 2004, before flour fortification, hemoglobin measurements were obtained in a probabilistic sample of 453 children. Twelve and 24 months later, samples of 923 and 863 children were studied, respectively. RESULTS: The three groups studied were comparable in terms of demographic and socioeconomic characteristics. At baseline, mean hemoglobin was 11.3±2.8 g/dL. In the post-fortification period, means were 11.2±2.8 (at 12 months and 11

  5. Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

    NARCIS (Netherlands)

    Betsalel, Ofir T; Pop, Ana; Rosenberg, Efraim H; Fernandez-Ojeda, Matilde; Jakobs, Cornelis; Salomons, Gajja S; Koning, Klaziena

    Creatine transporter deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. Currently, 38 pathogenic, including 15 missense variants, are reported. In this study, we report 33 novel, including 6 missense variants. To classify all known missense variants, we transfected creatine

  6. Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

    NARCIS (Netherlands)

    Betsalel, O.T.; Pop, A.; Rosenberg, E.H.; Fernandez-Ojeda, M.; Jakobs, C.; Salomons, G.S.; Brouwer, A.P. de; Wevers, R.A.; Yntema, H.G.

    2012-01-01

    Creatine transporter deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. Currently, 38 pathogenic, including 15 missense variants, are reported. In this study, we report 33 novel, including 6 missense variants. To classify all known missense variants, we transfected creatine

  7. Reference Gene Selection in the Desert Plant <em>Eremosparton songoricuem>m>

    Directory of Open Access Journals (Sweden)

    Dao-Yuan Zhang

    2012-06-01

    Full Text Available <em>Eremosparton songoricum em>(Litv. Vass. (<em>E. songoricumem> is a rare and extremely drought-tolerant desert plant that holds promise as a model organism for the identification of genes associated with water deficit stress. Here, we cloned and evaluated the expression of eight candidate reference genes using quantitative real-time reverse transcriptase polymerase chain reactions. The expression of these candidate reference genes was analyzed in a diverse set of 20 samples including various <em>E. songoricumem> plant tissues exposed to multiple environmental stresses. GeNorm analysis indicated that expression stability varied between the reference genes in the different experimental conditions, but the two most stable reference genes were sufficient for normalization in most conditions.<em> EsEFem> and <em>Esα-TUB> were sufficient for various stress conditions, <em>EsEF> and <em>EsACT> were suitable for samples of differing germination stages, and <em>EsGAPDH>and <em>Es>UBQ em>were most stable across multiple adult tissue samples. The <em>Es18Sem> gene was unsuitable as a reference gene in our analysis. In addition, the expression level of the drought-stress related transcription factor <em>EsDREB2em>> em>verified the utility of<em> E. songoricumem> reference genes and indicated that no single gene was adequate for normalization on its own. This is the first systematic report on the selection of reference genes in <em>E. songoricumem>, and these data will facilitate future work on gene expression in this species.

  8. Paciente com variante da síndrome de Dandy Walker

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    Robson Luis Ribeiro Andrade Filho

    2015-10-01

    Full Text Available O quadro que seria conhecido atualmente como Síndrome de Dandy Walker, foi caracterizada por um conjunto de sinais derivados de alterações na embriogênese, principalmente no que tange a gênese do sistema nervoso central. A patogenia é classificada majoritariamente em três formas, sendo a mais comum a variante de Dandy Walker. Tem-se por objetivo, o relato do caso de um paciente masculino, 3 meses de idade, portador da Variante da Síndrome de Dandy Walker. O paciente apresentava ao exame físico geral e específico dos sistemas: macrocefalia, hidrocele, apêndices em mãos e pés, microgenitália, hérnia inguinal. Em relação ao acometimento cardíaco, havia dilatação ventricular esquerda, bulhas hipofonéticas e sopros holossistólicos. Na ressonância magnética foi observada ausência de vermis cerebelar e aumento anormal do quarto ventrículo. Método: as informações foram obtidas mediante revisão de prontuário, exames de imagem e levantamento para estudo de literatura específica referente ao caso. Considerações finais e relevância: o caso relatado e o estudo das referências apontam a caracterização do paciente na variante de Dandy Walker, tendo em consideração seu fenótipo variável. Malformações devem ser pesquisadas intra e extracranianas através de pesquisa clínica e radiológica, de forma a minimizar as taxas de mortalidade em recém-nascidos portadores da síndrome.

  9. Hipertensão pulmonar em lactente associada a pulmão em ferradura: relato de caso

    Directory of Open Access Journals (Sweden)

    Juliana Rodrigues Neves

    2011-06-01

    Full Text Available Relatamos caso de lactente jovem com desconforto respiratório precoce e hipertensão pulmonar, diagnosticado como variante de pulmão em ferradura, e revisamos literatura a cerca desta rara malformação pulmonar e suas repercussões cardíacas e hemodinâmicas.

  10. Associação da poluição atmosférica com parâmetros hematológicos em crianças e adolescentes

    Directory of Open Access Journals (Sweden)

    Parinaz Poursafa

    2011-08-01

    Full Text Available OBJETIVO: Avaliar a relação entre poluição atmosférica e parâmetros hematológicos em uma amostra populacional de crianças e adolescentes. MÉTODOS: Este estudo transversal foi realizado em 2009-2010 com estudantes escolhidos aleatoriamente de diversas áreas de Isfahan, a segunda maior e mais poluída cidade iraniana. A associação entre os níveis de poluentes do ar e os de hemoglobina, plaquetas, glóbulos brancos (GB e glóbulos vermelhos (GV foi determinada pelas análises linear múltipla e de regressão logística ajustadas para idade, sexo, medidas antropométricas, fatores meteorológicos, e hábitos alimentares e de atividade física. RESULTADOS: Participaram do estudo 134 estudantes (48,5% meninos, com idade média de 13,10±2,21 anos. Com níveis moderados de Pollutant Standards Index (PSI, a média de material particulado (particulate matter < 10 µm (PM10 foi mais do que o dobro do normal. A análise de regressão linear demonstrou que o PSI e a maioria dos poluentes atmosféricos, especialmente PM10, estiveram negativamente relacionados com a contagem de hemoglobina e GV e positivamente relacionados com a contagem de GB e plaquetas. O odds ratio de uma elevação nos GB aumentou conforme os quartis de PM10, ozônio e PSI aumentavam, embora essas associações fossem significativas somente no quartil superior de PM10 e PSI. Os valores correspondentes de hemoglobina e GV seguiram a direção oposta. CONCLUSÕES: Destaca-se a associação dos poluentes atmosféricos com parâmetros hematológicos e um possível estado pró-inflamatório. A presença dessas associações com PM10 em níveis regulares de PSI enfatiza a necessidade de se reavaliar as políticas ambientais de saúde na faixa etária pediátrica.

  11. PREVALÊNCIA E FATORES ASSOCIADOS À ANEMIA EM CRIANÇAS DE CRECHES: UMA ANÁLISE HIERARQUIZADA

    Directory of Open Access Journals (Sweden)

    Taiane Gonçalves Novaes

    Full Text Available RESUMO Objetivo: Determinar a prevalência e os fatores associados à anemia em crianças menores de cinco anos assistidas em creches públicas de um município no sudoeste da Bahia. Métodos: Estudo transversal com uma amostra de 677 crianças matriculadas nas creches públicas de Vitória da Conquista, Bahia. Para determinação da hemoglobina por meio de punção digital, utilizou-se hemoglobinômetro portátil, considerando-se valores de hemoglobina <11 g/dL como ponto de corte para o diagnóstico da anemia. Aplicou-se questionário aos pais ou responsáveis para coleta de informações socioeconômicas, características maternas e de saúde e nutrição da criança. Medidas antropométricas de peso e estatura foram utilizadas para avaliação do estado nutricional da criança. Análise de regressão de Poisson com variância robusta e seleção hierárquica das variáveis foi usada para verificar fatores associados com anemia. Resultados: A prevalência de anemia foi de 10,2% e houve mais prevalência nas crianças cujas moradias não apresentavam instalação sanitária (RP 3,36; IC95% 1,40-8,03; naquelas que não receberam aleitamento materno exclusivo (RP 1,80; IC95% 1,12-2,91; nas crianças com idade inferior a 36 meses (RP 1,85; IC95% 1,19-2,89 e com baixa estatura para a idade (RP 2,06; IC95% 1,10-3,85. Conclusões: A prevalência de anemia pode ser considerada um problema de Saúde Pública menor em crianças de creches populares nesse município. Crianças com condições sanitárias inadequadas, que não receberam leite materno exclusivo, bem como as em idades mais precoces e com déficit nutricional foram mais suscetíveis.

  12. Hematologia e bioquímica sérica de equinos de concurso completo de equitação em treinamento

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    J.M. Santiago

    2013-04-01

    Full Text Available Avaliaram-se a hematologia e a bioquímica sérica em equinos de concurso completo de equitação (CCE em treinamento durante testes de esforço incremental em esteira ergométrica de alta velocidade. Foram utilizados 16 equinos em delineamento experimental inteiramente ao acaso com quatro tratamentos e quatro repetições em esquema de parcelas subdivididas, utilizando-se como fontes de variação nos tratamentos a idade e o histórico de treinamento em CCE. As parcelas foram constituídas pelos testes incrementais realizados nas fases inicial e final do treinamento. As subparcelas foram representadas pelos tempos de avaliação e coletas. Os equinos do grupo experimental novos iniciantes apresentaram valor médio do hematócrito de 43,24%, sendo inferior ao hematócrito do grupo adultos iniciantes, 45,63%, novos experientes, 46,39%, e competidores, 47,74%. Houve diferença (P<0,05 entre os testes físicos realizados nas fases inicial e final do treinamento, com redução na concentração plasmática de glicose, de 112 para 98,88mg/dL, nas concentrações séricas de creatinina, de 1,41 para 1,29mg/dL, e de proteínas totais, de 6,52 para 6,38g/dL, na contagem de monócitos, de 0,54 para 0,48 10³/mm³, e com aumento na concentração plasmática de lactato, de 3,31 para 3,79mmol/L, na concentração sérica de ácido úrico, de 1,44 para 1,77mg/dL, no hematócrito, de 44,19 para 46,90%, na concentração de hemoglobina, de 14,33 para 15,10g/dL, e na contagem de leucócitos totais, de 9,26 para 9,61 10³/mm³. O treinamento dos equinos de CCE aumentou o condicionamento físico dos equinos, com maior capacidade de metabolização do lactato após o exercício e aumento nos valores basais do hematócrito e da concentração de hemoglobina.

  13. Semantic prioritization of novel causative genomic variants

    KAUST Repository

    Boudellioua, Imene

    2017-04-17

    Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. Here, we demonstrate the PhenomeNET Variant Predictor (PVP) system that exploits semantic technologies and automated reasoning over genotype-phenotype relations to filter and prioritize variants in whole exome and whole genome sequencing datasets. We demonstrate the performance of PVP in identifying causative variants on a large number of synthetic whole exome and whole genome sequences, covering a wide range of diseases and syndromes. In a retrospective study, we further illustrate the application of PVP for the interpretation of whole exome sequencing data in patients suffering from congenital hypothyroidism. We find that PVP accurately identifies causative variants in whole exome and whole genome sequencing datasets and provides a powerful resource for the discovery of causal variants.

  14. Cryptanalysis of SIMON Variants with Connections

    DEFF Research Database (Denmark)

    Alizadeh, Javad; Alkhzaimi, Hoda A.; Aref, Mohammad Reza

    2014-01-01

    attacks extend to all variants of SIMON covering more rounds compared to any known results using linear cryptanalysis. We present a key recovery attack against SIMON128/256 which covers 35 out of 72 rounds with data complexity 2123. We have implemented our attacks for small scale variants of SIMON and our...

  15. Beta-glucosidase I variants with improved properties

    Science.gov (United States)

    Bott, Richard R.; Kaper, Thijs; Kelemen, Bradley; Goedegebuur, Frits; Hommes, Ronaldus Wilhelmus; Kralj, Slavko; Kruithof, Paulien; Nikolaev, Igor; Van Der Kley, Wilhelmus Antonious Hendricus; Van Lieshout, Johannes Franciscus Thomas; Van Stigt Thans, Sander

    2016-09-20

    The present disclosure is generally directed to enzymes and in particular beta-glucosidase variants. Also described are nucleic acids encoding beta-glucosidase variants, compositions comprising beta-glucosidase variants, methods of using beta-glucosidase variants, and methods of identifying additional useful beta-glucosidase variants.

  16. Hemoglobin measured by Hemocue and a reference method in venous and capillary blood: a validation study Hemoglobina medida por Hemocue y por un método de referencia en sangre venosa y capilar: estudio de validación

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    Lynnette Neufeld

    2002-06-01

    Full Text Available Objective. To assess the comparability of hemoglobin concentration (Hb in venous and capillary blood measured by Hemocue and an automated spectrophotometer (Celldyn and to document the influence of type of blood (capillary or venous and analysis method on anemia prevalence estimates. Material and Methods. Between February and May 2000, capillary and venous samples were collected from 72 adults and children at Hospital del Niño Morelense (Morelos State Children's Hospital in Cuernavaca, Morelos, Mexico, and assessed for Hb using the Hemocue and Celldyn methods. Estimated Hb levels were compared using the concordance correlation coefficient and Student's t test for paired data. The sensitivity and specificity for anemia diagnosis were estimated and compared between type of blood and method of assessment. Results. Capillary blood had higher Hb (+0.5g/dl than venous blood in adults and children, as did samples assessed by Celldyn compared to Hemocue (+0.3g/dl. Specificity to detect anemia was adequate (>0.90 but sensitivity was low for capillary blood assessed by Hemocue (Objetivo. Evaluar la comparabilidad de la concentración de hemoglobina (Hb en sangre venosa y capilar medida por Hemocue y por espectrofotómetro automatizado (Celldyn, así como documentar la influencia del tipo de sangre (capilar o venosa y del método de análisis sobre la prevalencia de anemia. Material y métodos. De febrero a mayo de 2000, se recolectaron muestras de sangre capilar y venosa en 72 adultos y niños en el Hospital del Niño Morelense, Cuernavaca, Morelos, México. Se determinaron los niveles de Hb con los métodos Hemocue y Celldyn. Las cifras de Hb estimadas se compararon con el coeficiente de concordancia y la prueba pareada de t de Student. También se comparó la sensibilidad y especificidad para el diagnóstico de anemia, utilizando sangre de los dos tipos y métodos de análisis. Resultados. La Hb fue mayor en sangre capilar comparada con sangre venosa

  17. Local binary patterns new variants and applications

    CERN Document Server

    Jain, Lakhmi; Nanni, Loris; Lumini, Alessandra

    2014-01-01

    This book introduces Local Binary Patterns (LBP), arguably one of the most powerful texture descriptors, and LBP variants. This volume provides the latest reviews of the literature and a presentation of some of the best LBP variants by researchers at the forefront of textual analysis research and research on LBP descriptors and variants. The value of LBP variants is illustrated with reported experiments using many databases representing a diversity of computer vision applications in medicine, biometrics, and other areas. There is also a chapter that provides an excellent theoretical foundation for texture analysis and LBP in particular. A special section focuses on LBP and LBP variants in the area of face recognition, including thermal face recognition. This book will be of value to anyone already in the field as well as to those interested in learning more about this powerful family of texture descriptors.

  18. Diferencias entre la hemoglobina observada y estimada por hematocrito y su importancia en el diagnóstico de anemia en población costera venezolana: análisis del segundo estudio nacional de crecimiento y desarrollo humano (SENACREDH Differences between observed and estimated by hematocrit hemoglobin and its relevance in the diagnosis of anemia among coastal population in Venezuela: analysis of the second national study of human growth and development (SENACREDH

    Directory of Open Access Journals (Sweden)

    Jessica Flores-Torres

    2011-03-01

    Full Text Available Objetivos. Evaluar las diferencias entre el valor de hemoglobina observada y el valor estimado a partir del hematocrito en el marco del Segundo Estudio Nacional de Crecimiento y Desarrollo Humano de la Población Venezolana (SENACREDH en el eje centro norte costero del país. Materiales y métodos. Por medio de un muestreo probabilístico multietápico por conglomerados se seleccionó un total de 6004 sujetos que representan 7 286 781 habitantes del eje Centro Norte Costero (Vargas, Carabobo, Distrito Capital, Aragua y Miranda. Se compararon medias de la hemoglobina observada y hemoglobina estimada (hematocrito/3, usando la prueba t para muestras relacionadas. Se realizaron regresiones lineales entre hemoglobina observada y hematocrito. Resultados. Se observó que el promedio de las diferencias entre la asignadas a la hemoglobina observada y la estimada por el hematocrito fue de -0,3446 ± 0,0002 (pObjectives. To evaluate the differences between the observed hemoglobin levels and those estimated based on hematocrit in the context of the 2nd National Study of Human Growth and Development of the Venezuelan Population (SENACREDH. Materials and methods. 6,004 individuals were chosen by a probabilistic multistage cluster sampling representing 7,286,781 inhabitants from North Central Coastal area (Vargas, Carabobo, Capital District, Aragua and Miranda. Means of observed and estimated hemoglobin (hematocrit/3 were compared, using t test for related samples and linear regression. Results. Mean difference between the values of observed and estimated hemoglobin was -0.3446 ±0.0002 (p<0.001; significantly overestimating the hemoglobin values. Regression models of hemoglobin on hematocrit showed an r2=0,87. In order to correct the estimation, we propose a new formula for calculating hemoglobin based on haematocrit values: estimated hemoglobin=(Haematocrit/3.135+ 0.257. Conclusions: There is an overestimation of hemoglobin levels from hematocrit levels and

  19. Leucemia linfoblástica aguda em lactentes: 20 anos de experiência

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    Amanda Ibagy

    2013-02-01

    Full Text Available OBJETIVO: Analisar pacientes com menos de dois anos de idade com leucemia linfoblástica aguda atendidos no período de 1990 a 2010, em um centro de referência estadual. MÉTODOS: Estudo clínico, epidemiológico, transversal, descritivo e observacional. Pacientes incluídos tinham menos de dois anos de idade, com leucemia linfoblástica aguda, tratados no período de 1990 a 2010 na unidade de oncologia pediátrica de um centro de referência estadual, totalizando 41 casos. RESULTADOS: Todos os pacientes eram Caucasianos e 60,9% eram do sexo feminino. Com relação à idade, 24,38% tinham menos de seis meses, 17,07% tinham entre seis meses e um ano e 58,53% mais do que um ano de idade. A idade de seis meses foi estatisticamente significante para o desfecho de óbito. Os sinais e sintomas predominantes foram febre, hematomas e petéquias. Uma contagem de leucócitos superior a 100.000 foi observada em 34,14% dos casos; hemoglobina inferior a 11 em 95,13% e contagem de plaquetas inferior a 100.000, em 75,61% dos casos. Infiltração do sistema nervoso central estava presente em 12,91% dos pacientes. Em relação à linhagem, a linhagem B predominou (73%, mas a linhagem de células T foi estatisticamente significativa para o óbito. Trinta e nove por cento dos pacientes tiveram recorrência da doença. Em relação ao estado vital, 70,73% dos pacientes morreram, sendo choque séptico a principal causa. CONCLUSÕES: leucemia linfoblástica aguda em crianças tem uma alta taxa de mortalidade, principalmente em crianças menores de um ano e linhagem derivada de células T.

  20. Avaliação do cuidado prestado a pacientes diabéticos em nível primário

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    Araújo Rejane B.

    1999-01-01

    Full Text Available OBJETIVO: Descrever características de pacientes diabéticos acompanhados em um posto de atenção primária à saúde. MÉTODOS: Estudo transversal. Rastrearam-se 3.024 prontuários de família, em busca de pacientes com 30-75 anos, com diagnóstico de diabetes, atendidos nos últimos cinco anos. Os pacientes detectados foram entrevistados em seus domicílios, e compareceram ao posto para o exame físico e requisição para dosagem da hemoglobina glicosilada. RESULTADOS: A prevalência de diabetes foi de 4,2%. A maioria eram mulheres brancas, ±50 anos de idade, com renda familiar mensal <= 3 salários-mínimos. Menos de um terço seguia dieta; e, apenas um quinto fazia exercícios regulares. Cerca de 70% estavam em uso de hipoglicemiantes orais ou insulina. Dos que fizeram o exame (adesão de 70%, a maioria apresentou níveis normais ou aceitáveis de glicemia. CONCLUSÕES: Maior esforço deve ser dispendido pelas equipes de saúde de forma a promover a adesão dos pacientes diabéticos à dieta e ao exercício.

  1. Somatic cancer variant curation and harmonization through consensus minimum variant level data

    Directory of Open Access Journals (Sweden)

    Deborah I. Ritter

    2016-11-01

    Full Text Available Abstract Background To truly achieve personalized medicine in oncology, it is critical to catalog and curate cancer sequence variants for their clinical relevance. The Somatic Working Group (WG of the Clinical Genome Resource (ClinGen, in cooperation with ClinVar and multiple cancer variant curation stakeholders, has developed a consensus set of minimal variant level data (MVLD. MVLD is a framework of standardized data elements to curate cancer variants for clinical utility. With implementation of MVLD standards, and in a working partnership with ClinVar, we aim to streamline the somatic variant curation efforts in the community and reduce redundancy and time burden for the interpretation of cancer variants in clinical practice. Methods We developed MVLD through a consensus approach by i reviewing clinical actionability interpretations from institutions participating in the WG, ii conducting extensive literature search of clinical somatic interpretation schemas, and iii survey of cancer variant web portals. A forthcoming guideline on cancer variant interpretation, from the Association of Molecular Pathology (AMP, can be incorporated into MVLD. Results Along with harmonizing standardized terminology for allele interpretive and descriptive fields that are collected by many databases, the MVLD includes unique fields for cancer variants such as Biomarker Class, Therapeutic Context and Effect. In addition, MVLD includes recommendations for controlled semantics and ontologies. The Somatic WG is collaborating with ClinVar to evaluate MVLD use for somatic variant submissions. ClinVar is an open and centralized repository where sequencing laboratories can report summary-level variant data with clinical significance, and ClinVar accepts cancer variant data. Conclusions We expect the use of the MVLD to streamline clinical interpretation of cancer variants, enhance interoperability among multiple redundant curation efforts, and increase submission of

  2. Dermoscopy of Bowen's disease: pigmented variant on the penis Dermatoscopia da doença de Bowen: variante pigmentada no pênis

    Directory of Open Access Journals (Sweden)

    Priscila Ishioka

    2012-06-01

    Full Text Available Pigmented Bowen's disease (PBD is a variant of squamous cell carcinoma in situ and represents less than 2% of cases of Bowen's disease. It is characterized by a sharply demarcated, pigmented plaque with a scaly or crusted surface on intertriginous and genital areas. The authors describe a case of PBD on the penis and analyze the dermoscopic aspects of this type of lesion.A doença de Bowen Pigmentada (DBP é uma variante do carcinoma espinocelular in situ e compreende menos de 2% dos casos da Doença de Bowen. Apresenta-se como placa pigmentada, hiperqueratósica, delimitada, localizada em áreas intertriginosas e anogenital. Os autores descrevem um caso de DBP no pênis e abordam os aspectos dermatoscópicos dessa lesão.

  3. Variability extraction and modeling for product variants.

    Science.gov (United States)

    Linsbauer, Lukas; Lopez-Herrejon, Roberto Erick; Egyed, Alexander

    2017-01-01

    Fast-changing hardware and software technologies in addition to larger and more specialized customer bases demand software tailored to meet very diverse requirements. Software development approaches that aim at capturing this diversity on a single consolidated platform often require large upfront investments, e.g., time or budget. Alternatively, companies resort to developing one variant of a software product at a time by reusing as much as possible from already-existing product variants. However, identifying and extracting the parts to reuse is an error-prone and inefficient task compounded by the typically large number of product variants. Hence, more disciplined and systematic approaches are needed to cope with the complexity of developing and maintaining sets of product variants. Such approaches require detailed information about the product variants, the features they provide and their relations. In this paper, we present an approach to extract such variability information from product variants. It identifies traces from features and feature interactions to their implementation artifacts, and computes their dependencies. This work can be useful in many scenarios ranging from ad hoc development approaches such as clone-and-own to systematic reuse approaches such as software product lines. We applied our variability extraction approach to six case studies and provide a detailed evaluation. The results show that the extracted variability information is consistent with the variability in our six case study systems given by their variability models and available product variants.

  4. Ultrasonographic imaging of papillary thyroid carcinoma variants

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Jung Hee [Dept. of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2017-04-15

    Ultrasonography (US) is routinely used to evaluate thyroid nodules. The US features of papillary thyroid carcinoma (PTC), the most common thyroid malignancy, include hypoechogenicity, spiculated/microlobulated margins, microcalcifications, and a nonparallel orientation. However, many PTC variants have been identified, some of which differ from the classic type of PTC in terms of biological behavior and clinical outcomes. This review describes the US features and clinical implications of the variants of PTC. With the introduction of active surveillance replacing immediate biopsy or surgical treatment of indolent, small PTCs, an understanding of the US characteristics of PTC variants will facilitate the individualized management of patients with PTC.

  5. Molecular Cloning and Functional Analysis of Three <em>FLOWERING LOCUS T (FTem> Homologous Genes from Chinese <em>Cymbidium>

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    Jaime A. Teixeira da Silva

    2012-09-01

    Full Text Available The <em>FLOWERING LOCUS Tem> (<em>FT> gene plays crucial roles in regulating the transition from the vegetative to reproductive phase. To understand the molecular mechanism of reproduction, three homologous <em>FT> genes were isolated and characterized from <em>Cymbidium sinenseem> “Qi Jian Bai Mo”, <em>Cymbidium goeringiiem> and <em>Cymbidium ensifoliumem> “Jin Si Ma Wei”. The three genes<em> em>contained 618-bp nucleotides with a 531-bp open reading frame (ORF of encoding 176 amino acids (AAs. Alignment of the AA sequences revealed that CsFT, CgFT and CeFT contain a conserved domain, which is characteristic of the<em> em>PEBP-RKIP superfamily, and which share high identity with FT of other plants in GenBank: 94% with OnFT<em> em>from <em>Oncidium em>Gower Ramsey, 79% with Hd3a from <em>Oryza sativaem>, and 74% with FT from <em>Arabidopsis thalianaem>. qRT-PCR analysis showed a diurnal expression pattern of <em>CsFT>, <em>CgFT> and <em>CeFT> following both long day (LD, 16-h light/8-h dark and short day (SD, 8-h light/16-h dark treatment. While the transcripts of both <em>CsFT em>and <em>CeFT em>under LD were significantly higher than under SD, those of <em>CgFT em>were> em>higher under SD. Ectopic expression of <em>CgFT> in transgenic <em>Arabidopsis> plants resulted in early flowering compared to wild-type plants and significant up-regulation of <em>APETALA1em> (<em>AP1em> expression. Our data indicates that CgFT is a putative phosphatidylethanolamine-binding protein gene in <em>Cymbidium> that may regulate the vegetative to reproductive transition in flowers, similar to its <em>Arabidopsis> ortholog.

  6. <em>α>-Glucosidase Inhibitory Constituents from <em>Acanthopanax senticosusem> Harm Leaves

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    Hai-Xue Kuang

    2012-05-01

    Full Text Available A new triterpene glycoside, 3-<em>O-[(α>-L-rhamnopyranosyl(1→2]-[<em>β>-D-glucuronopyranosyl-6-<em>O>-methyl ester]-olean-12-ene-28-olic acid (1 and a new indole alkaloid, 5-methoxy-2-oxoindolin-3-acetic acid methyl ester (5 were isolated from the leaves of <em>Acanthopanax senticosusem> Harms along with six known compounds. The structures of the new compounds were determined by means of 2D-NMR experiments and chemical methods. All the isolated compounds were evaluated for their glycosidase inhibition activities and compound 6 showed significant <em>α>-glucosidase inhibition activity.

  7. Hemilaryngeal Microsomia: An Anatomic Variant.

    Science.gov (United States)

    Urban, Matthew J; Mattioni, Jillian; Jaworek, Aaron; Potigailo, Valeria; Sataloff, Robert T

    2017-09-01

    This study aims to describe a congenital laryngeal structural variant, hemilaryngeal microsomia (HLM), and to correlate identification on physical examination with computerized tomography scan (CT) and laryngoscopy findings. The study was conducted at a tertiary care center. Six patients presenting with hoarseness were admitted to a tertiary care otolaryngology office. These patients had asymmetrical thyroid cartilage prominence on palpation during physical examination. A diagnosis of HLM was made. All patients underwent laryngostroboscopy and CT scan. Four control patients with normal thyroid cartilage anatomy on physical examination, CT, and stroboscopy results were included for comparison. Disparities in thyroid cartilage angles correlated with documented physical examination findings for six out of six HLM patients. On CT scan, the average difference in left and right thyroid laminar angles was 30.2° ± 18.3° in HLM patients vs 4.00° ± 1.63° in control patients (P = 0.023). Strobosocopic findings also correlated with HLM. The arytenoid cartilage was anteriorly or medially displaced on the microsomic side in all six HLM patients. Three patients had anterior placement of the vocal process resulting in shortening of the vocal fold on the microsomic side of the larynx. HLM is a congenital structural anomaly of the larynx that may be palpated on physical examination. HLM found on physical examination can be correlated with asymmetries found on CT scan and endoscopy. There is no evidence that the structural features of HLM were causally related to voice symptoms, but the findings on HLM may lead to misdiagnosis. A larger study is indicated to confirm laryngeal structural differences between patients with HLM on physical examination and the general population. Whether or not HLM affects clinical or surgical outcomes remains to be studied. Copyright © 2017. Published by Elsevier Inc.

  8. Histone variants in plant transcriptional regulation.

    Science.gov (United States)

    Jiang, Danhua; Berger, Frédéric

    2017-01-01

    Chromatin based organization of eukaryotic genome plays a profound role in regulating gene transcription. Nucleosomes form the basic subunits of chromatin by packaging DNA with histone proteins, impeding the access of DNA to transcription factors and RNA polymerases. Exchange of histone variants in nucleosomes alters the properties of nucleosomes and thus modulates DNA exposure during transcriptional regulation. Growing evidence indicates the important function of histone variants in programming transcription during developmental transitions and stress response. Here we review how histone variants and their deposition machineries regulate the nucleosome stability and dynamics, and discuss the link between histone variants and transcriptional regulation in plants. This article is part of a Special Issue entitled: Plant Gene Regulatory Mechanisms and Networks, edited by Dr. Erich Grotewold and Dr. Nathan Springer. Copyright © 2016 Elsevier B.V. All rights reserved.

  9. Variant (Swine Origin) Influenza Viruses in Humans

    Science.gov (United States)

    ... at Commercial Swine Farms Fair Organizers & Exhibitors In Humans Key Facts about Human Infections with Variant Viruses Interim Guidance for Clinicians on Human Infections Background, Risk Assessment & Reporting Reported Infections with ...

  10. Splicing variants of porcine synphilin-1

    DEFF Research Database (Denmark)

    Larsen, Knud Erik; Madsen, Lone Bruhn; Farajzadeh, Leila

    2015-01-01

    %) and to mouse (84%) synphilin-1. Three shorter transcript variants of the synphilin-1 gene were identified, all lacking one or more exons. SNCAIP transcripts were detected in most examined organs and tissues and the highest expression was found in brain tissues and lung. Conserved splicing variants and a novel......RNA was investigated by RNAseq. The presented work reports the molecular cloning and characterization of the porcine (Sus scrofa) synphilin-1 cDNA (SNCAIP) and three splice variants hereof. The porcine SNCAIP cDNA codes for a protein (synphilin-1) of 919 amino acids which shows a high similarity to human (90...... splice form of synhilin-1 were found in this study. All synphilin-1 isoforms encoded by the identified transcript variants lack functional domains important for protein degradation....

  11. Improving bioinformatic pipelines for exome variant calling

    OpenAIRE

    Ji, Hanlee P.

    2012-01-01

    Exome sequencing analysis is a cost-effective approach for identifying variants in coding regions. However, recognizing the relevant single nucleotide variants, small insertions and deletions remains a challenge for many researchers and diagnostic laboratories typically do not have access to the bioinformatic analysis pipelines necessary for clinical application. The Atlas2 suite, recently released by Baylor Genome Center, is designed to be widely accessible, runs on desktop computers but is ...

  12. Rare hemoglobin variants in Tunisian population.

    Science.gov (United States)

    Zorai, A; Moumni, I; Mosbahi, I; Douzi, K; Chaouachi, D; Guemira, F; Abbes, S

    2015-04-01

    During the last 30 years, many studies concerning hemoglobinopathies were realized among Tunisians. More than twenty different thalassemic alleles were detected on the β-globin gene, and less are affecting the α-globin genes. Unusual hemoglobin (Hb) variants other than Hb S, Hb C, and Hb O-arab, which are the most frequent variants in Tunisia, were also detected. Eight Tunisian subjects were studied at phenotypic and molecular levels. Hematological indices and hemoglobin (Hb) pattern were performed by alkaline electrophoresis and isoelectric focusing (IEF),and the Hb fractions were quantitated by cation exchange HPLC. On genomic level, coding regions were amplified by polymerase chain reaction (PCR) followed by a sequencing of the purified PCR products using the dye terminator method. Seven uncommon Hb variants were detected and described for the first time among Tunisians. HbA2-Tunis [δ46(CD5), Gly → Glu, GGG → GAG] is the newly described δ-chain variant in our laboratory, and some other variants (Hb Constant Spring, G San Jose, and Hb J-Bangkok) are very uncommon in the Mediterranean region. We present here an updated review of the Hb variants detected among Tunisians. Twenty-one rare Hb variants were detected affecting the α1-, α2-, δ-, γ-, and β-globin genes, leading in some cases to a severe phenotype especially when the stability is completely altered. The ethnical history of Tunisia could explain this important variability of the observed rare Hb variants. © 2014 John Wiley & Sons Ltd.

  13. Comportamento do índice de massa do ventrículo esquerdo de pacientes em diálise no decorrer de 17 anos

    Directory of Open Access Journals (Sweden)

    Loren Giagio Cavalcante

    2015-09-01

    Full Text Available ResumoIntrodução:A hipertrofia ventricular esquerda (HVE é alteração frequente em pacientes de diálise e imprime prognóstico sombrio. Não se conhece qual a tendência secular dessa alteração cardíaca em nossos pacientes.Objetivo:Avaliar o comportamento da HVE, pelo índice de massa do ventrículo esquerdo (IMVE, no decorrer de 17 anos em pacientes de um centro universitário de diálise, bem como verificar as possíveis causas desse comportamento.Métodos:Foi realizado um estudo longitudinal retrospectivo que avaliou, por meio de ecocardiografia, o IMVE em pacientes submetidos à hemodiálise em nosso Serviço de Diálise durante o período de 17 anos, de 1993 a 2010. Foram incluídos 250 exames de pacientes com doença renal crônica estágio V-D com idade superior a 18 anos que foram submetidos à avaliação ecocardiográfica de rotina.Resultados:Notou-se redução do IMVE à medida que os anos avançavam. Essa redução correlacionou-se à diminuição da pressão arterial e à elevação da hemoglobina. Em análise múltipla, a massa ventricular esquerda associou-se apenas à pressão arterial.Conclusão:A porcentagem de pacientes com HVE sofreu redução significante no decorrer de 17 anos em nossa Unidade de Diálise. O fator associado a essa redução foi a diminuição da pressão arterial.

  14. PRESENÇA DE ANEMIA, ADESÃO E TEMPO DE SUPLEMENTAÇÃO COM SULFATO FERROSO EM PRÉ-ESCOLARES DE VENÂNCIO AIRES, RS

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    Liziane Hermes

    2014-09-01

    Full Text Available A anemia, uma síndrome clínica multifatorial, caracteriza-se pela diminuição na concentração de hemoglobina no sangue em consequência da carência de ferro ou de outros nutrientes essenciais. Este trabalho teve como objetivo reavaliar a presença de anemia nas mesmas crianças que participaram do estudo em 2012, bem como avaliar a taxa de adesão e tempo de suplementação ao programa nacional de suplementação de sulfato ferroso das mesmas crianças avaliadas em 2012 e reavaliadas em 2013. A amostra de 2013 foi composta por 36 crianças, que já haviam participado do estudo em 2012. No grupo reavaliado em 2013, a presença de anemia foi de 8,3% e a taxa de adesão à suplementação foi de 80%, contudo, o tempo médio de suplementação foi de apenas 4,5 meses. Concluímos que houve adesão inadequada (tempo curto à suplementação de sulfato ferroso nas crianças. É possível que o baixo percentual de anemia encontrado possa ser justificado pela orientação nutricional dada aos pais após diagnostico de anemia na pesquisa realizada em 2012.

  15. Budesonida inalatória em crianças com asma aguda Nebulized budesonide to treat acute asthma in children

    Directory of Open Access Journals (Sweden)

    Geórgia K. M. Milani

    2004-04-01

    Full Text Available OBJETIVO: Avaliar a eficácia de budesonida na forma de suspensão, em dose única para inalação, como tratamento adjunto ao b2 inalatório, comparada com dose única de prednisona por via oral, em pacientes com crise aguda de asma. MÉTODO: Estudo prospectivo, randômico, paralelo, duplo-cego, duplo-placebo. Foram selecionadas 49 crianças, com idade entre 2 e 7 anos, em crise aguda de asma, que, após inalação com salbutamol (0,15 mg/kg, foram divididas em três grupos. O grupo I foi tratado com placebo via oral e inalatório; o grupo II, com prednisona via oral (1 mg/kg e placebo inalatório; e o grupo III, budesonida inalatória (2 mg e placebo via oral. As avaliações foram realizadas pela aplicação de um escore clínico e medida da saturação transcutânea da hemoglobina, seqüencialmente até 72 horas. Caso o escore clínico fosse igual ou superior ao da avaliação inicial, e a saturação inferior à primeira avaliação, a inalação com b2 adrenérgico era repetida. RESULTADOS: A melhora do escore clínico foi progressiva a partir de 30 minutos, e não houve diferença significativa nos três grupos estudados. Ocorreu aumento significativo da saturação da hemoglobina em relação ao valor inicial, com 2 horas no grupo prednisona, 4 horas no grupo budesonida e 24 horas no grupo placebo. CONCLUSÃO: O número de inalações com broncodilatador foi semelhante nos três grupos, com uma média de 2,9 no grupo placebo; 2,7 no grupo prednisona; e 2,5 no grupo budesonida. Em geral, as drogas estudadas foram bem toleradas, com efeitos colaterais semelhantes ao placebo. A administração de dose única de budesonida inalatória associada ao salbutamol, na crise moderada de asma, promoveu melhora clínica comparável à da prednisona oral. A recuperação da saturação transcutânea da hemoglobina foi mais rápida com prednisona.OBJECTIVE: To investigate the efficacy of a single dose of inhaled budesonide as compared to oral

  16. Introdução alimentar e anemia em lactentes do município de Campinas (SP Feeding pattern and anemia in infants in the city of Campinas, São Paulo, Brazil

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    Regina Esteves Jordão

    2009-12-01

    Full Text Available OBJETIVO: Verificar a prevalência de anemia em crianças do município de Campinas, levando-se em consideração a introdução de alimentos complementares. MÉTODOS: Estudo transversal realizado com 354 crianças de seis a 12 meses de idade, sorteadas do Sistema de Informações de Nascidos Vivos da cidade de Campinas. Profissionais da área da saúde devidamente treinados realizaram entrevista domiciliar com as mães dos lactentes, as quais responderam a um questionário contendo dados sobre a introdução de alimentos e condições socioeconômicas. Ao final, coletou-se sangue capilar do lactente, para dosagem de hemoglobina com o Hemocue®. Foram consideradas anêmicas as crianças com concentrações de hemoglobina inferiores a 11g/dL. Os dados foram avaliados por análise de sobrevida para verificar a associação da introdução alimentar com a anemia. RESULTADOS: Dos lactentes estudados, 66,5% apresentaram níveis de hemoglobina OBJECTIVE: To verify the prevalence of anemia associated with the introduction of complementary food in children less than two years old in the city of Campinas, São Paulo, Brazil. METHODS: A cross-sectional survey was performed in 354 children between 6 and 12 months of age which were registered in the Live Births Information System from Campinas area. Health professionals interviewed the mothers, who answered a questionnaire about food introduction and socioeconomic status. Capillary blood was collected and the hemoglobin level was determined by Hemocue®. Anemia was diagnosed if hemoglobin level was below 11g/dL. Survival analysis was performed to determine the influence of complementary food introduction on anemia. RESULTS: 66.5% of the children had hemoglobin levels lower than 11g/dl. Anemia was associated to early introduction of the family diet (p=0.036, bread (p=0.012, yogurt (p=0.006, soft drinks (p=0.005, candies (p=0.005 and snacks (p=0.013. CONCLUSIONS: Inadequate complementary food introduction is

  17. Demography and the age of rare variants.

    Science.gov (United States)

    Mathieson, Iain; McVean, Gil

    2014-08-01

    Large whole-genome sequencing projects have provided access to much rare variation in human populations, which is highly informative about population structure and recent demography. Here, we show how the age of rare variants can be estimated from patterns of haplotype sharing and how these ages can be related to historical relationships between populations. We investigate the distribution of the age of variants occurring exactly twice (ƒ(2) variants) in a worldwide sample sequenced by the 1000 Genomes Project, revealing enormous variation across populations. The median age of haplotypes carrying ƒ(2) variants is 50 to 160 generations across populations within Europe or Asia, and 170 to 320 generations within Africa. Haplotypes shared between continents are much older with median ages for haplotypes shared between Europe and Asia ranging from 320 to 670 generations. The distribution of the ages of ƒ(2) haplotypes is informative about their demography, revealing recent bottlenecks, ancient splits, and more modern connections between populations. We see the effect of selection in the observation that functional variants are significantly younger than nonfunctional variants of the same frequency. This approach is relatively insensitive to mutation rate and complements other nonparametric methods for demographic inference.

  18. Hemoglobin Variant Profiles among Brazilian Quilombola Communities.

    Science.gov (United States)

    Santiago, Rayra P; Oliveira, Rodrigo M; Soares, Leonardo F; Figueiredo, Camylla V B; Silva, Denise Oliveira; Hurtado-Guerrero, Ana F; Fiuza, Luciana M; Guarda, Caroline C; Adorno, Elisângela V; Barbosa, Cynara G; Gonçalves, Marilda S

    2017-03-01

    Brazilian Quilombolas are communities composed of African-derived populations that have their territories guaranteed by the Brazilian Constitution. The present study investigated the hemoglobin (Hb) variants among these population groups. This study was conducted in a total of 2843 individuals of Brazilian Quilombola communities of the Bahia, Pará, and Piauí states. All the participants had their Hb profiles evaluated. The Hb S (HBB: c.20A>T) variant was described in all the studied localities. However, the individuals in Bahia State had the highest frequency of the Hb C (HBB: c.19G>A) variant; individuals from Piauí State had a higher frequency of the Hb D-Punjab (HBB: c.364G>C) variant compared to the other states, and individuals from Pará State only carried the Hb S variant. The present study revealed a specific distribution of Hb variants that could represent different waves of African influence in these Brazilian populations.

  19. Coexistencia de variantes HIV-1 com insercao dipeptidica no gene da transcriptase reversa

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    Aline Aki Tanikawa

    2013-08-01

    Full Text Available O objetivo desta comunicação foi descrever a detecção de coexistência de variantes HIV-1 com inserções de dois aminoácidos entre os códons 69 e 70 da transcriptase reversa. Tais variantes foram isoladas de paciente do sexo masculino, 16 anos de idade, em tratamento no interior do estado de São Paulo. Após confirmação de falha terapêutica, foi realizado teste de resistência a antirretrovirais, a partir do qual foram detectadas duas variantes contendo inserções dos aminoácidos Ser-Gly/Ser-Ala no códon 69 da transcriptase reversa, além da mutação T69S. Tais inserções possuem baixa prevalência, não foram relatadas em caráter de coexistência no Brasil e estão relacionadas com a resistência a múltiplas drogas, tornando o achado relevante do ponto de vista epidemiológico.

  20. Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.

    Science.gov (United States)

    Betsalel, Ofir T; Pop, Ana; Rosenberg, Efraim H; Fernandez-Ojeda, Matilde; Jakobs, Cornelis; Salomons, Gajja S

    2012-04-01

    Creatine transporter deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. Currently, 38 pathogenic, including 15 missense variants, are reported. In this study, we report 33 novel, including 6 missense variants. To classify all known missense variants, we transfected creatine deficient fibroblasts with the SLC6A8 ORF containing one of the unique variants and tested their ability to restore creatine uptake. This resulted in the definitive classification of 2 non-disease associated and 19 pathogenic variants of which 3 have residual activity. Furthermore, we report the development and validation of a novel DHPLC method for the detection of heterozygous SLC6A8 variants. The method was validated by analysis of DNAs that in total contained 67 unique variants of which 66 could be detected. Therefore, this rapid screening method may prove valuable for the analysis of large cohorts of females with mild intellectual disability of unknown etiology, since in this group heterozygous SLC6A8 mutations may be detected. DHPLC proved also to be important for the detection of somatic mosaicism in mothers of patients who have a pathogenic mutation in SLC6A8. All variants reported in the present and previous studies are included in the Leiden Open Source Variant Database (LOVD) of SLC6A8 (www.LOVD.nl/SLC6A8). Copyright © 2011 Elsevier Inc. All rights reserved.

  1. Distribuição da anemia em pré-escolares do semi-árido da Bahia Distribution of anemia among preschool children from the semi-arid region of Bahia

    Directory of Open Access Journals (Sweden)

    Ana Marlúcia O. Assis

    1997-04-01

    Full Text Available O objetivo desta investigação foi identificar a prevalência da anemia e alguns de seus potenciais determinantes em 754 crianças de áreas urbanas de sete municípios na região do semi-árido baiano. Hemoglobina foi determinada em 745 crianças de um a 72 meses de idade. Para o grupo etário de seis a 72 meses um valor de hemoglobina The objective of this survey was to determine the prevalence of anemia and potential determinants thereof in 754 children from urban areas of seven small towns in the semi-arid region of Bahia. Hemoglobin was measured in 745 children 1 to 72 months of age. For the 6-to-72 month-old group, hemoglobin < 11.0 g/dl was considered anemia (following WHO recommendations whereas <9.5 g/dl was considered severe anemia. The same cutoffs were used for children under 6 months, which are the same ones used in clinical-hematology. A mean hemoglobin of 12.1 g/dl was found, distributed differently according to age groups (p=0.001. The study found prevalences of 22.2 % for anemia and 5.8% for severe anemia, respectively. Occurrence of anemia varied significantly with age (p=0.001; the highest prevalence was 50.0% in children 12 to 23 months of age, followed by 29.9% in children below 12 months. The association of anemia with mother's education (controlled for age and per capita family income was not statistically significant.

  2. [Frequency of chromosome variants in human populations].

    Science.gov (United States)

    Kuleshov, N P; Kulieva, L M

    1979-01-01

    Chromosome variants were analyzed in the course of the population chromosome investigation of 6000 newborns and clinical cytogenetic studies of 403 married couples with recurrent spontaneous abortions, stillbirths or offsprings having congenital malformations or Down's syndrome. The following variants were determined: 1) Igh+, 9gh+, 16gh+ - the enlargement of the secondary constrictions of the size, more than 1/4 of the long arm of the chromosome; 2) Dp+ or Gp+ - the enlargement of the short arms of acrocentrics, their size being more than the short arm of the chromosome 18; 3) Ds+ or Gs - large satellites of the acrocentrics which are equal or more than the thickness of the chromatids of the long arms; 4) Es+ - satellites on the short arms of the chromosomes 17 or 18; 5) Dss of Gss - double satellites; 6) Yq+ - the enlargement of the long arm of Y chromosome, the size of which being more than G chromosome; 7) Yq- - deletion of the long arm of Y chromosome, the size of the long arm being less than chromosomes 21--22. The total frequency of variants in newborns was 12.8/1000 births. The incidence of different types of variants per 1000 births was as follows: Igh+ - 0.33; 9gh+ - 0.17; 16gh+ - 0.50; Ds+ - 2.33; Dp+ - 1.50; Dp- - 0.17; Gs+ - 0.83; Gp+ - 2.17; Yq+ - 6.91/1000 males; Yg- - 0.99/1000 males; double variants - 0.33; other variants - 0.33. 4.0% of married couples with recurrent spontaneous abortions had major chromosome aberrations, 14.6% - extreme variants of chromosomes. Among 113 couples with the history of congenital malformations in their offsprings major chromosome abnormalities were found in 4.4%, chromosome variants - 13.3%. The frequency of chromosome variants among 139 patients with Down's syndrome was 7.2%. In one case Robertsonian translocation t(DqGa) was determined. The most frequent types of variant chromosomes were Ds+, Dp+, Es+, Yq+.

  3. Diagnosis of iron deficiency anemia in children of Northeast Brazil Diagnóstico de anemia por deficiencia de hierro en niños del Noreste de Brasil Diagnóstico de anemia por deficiência de ferro em crianças do Nordeste do Brasil

    Directory of Open Access Journals (Sweden)

    Antonio Geraldo Cidrão Carvalho

    2010-06-01

    Full Text Available OBJECTIVE: To diagnose iron deficiency anemia in children. METHODS: The study was conducted with a sample of 301 children aged six to 30 months attending public daycare centers in the city of Recife, Northeast Brazil, in 2004. The diagnoses of anemia were based on a combination of different hematological and biochemical parameters: hemoglobin, mean corpuscular volume, ferritin, C-reactive protein, transferrin saturation and transferrin receptor. The chi-square test and ANOVA were used in the statistical analysis. RESULTS: Of all children studied, 92.4% had anemia (Hb OBJETIVO: Diagnosticar anemia por deficiencia de hierro en niños. MÉTODOS: El estudio fue desarrollado con una muestra de 301 niños con edades entre seis y 30 meses, usuarios de guarderías públicas de Recife, Noreste de Brasil, en 2004. Para el diagnóstico de la anemia se utilizó la combinación de diferentes parámetros hematológicos y bioquímicos: hemoglobina, volumen corpuscular promedio, ferritina, proteína C-reactiva, saturación de la transferrina y receptor de la transferrina. Para el análisis estadístico se empleó la prueba de chi-cuadrado y ANOVA. RESULTADOS: Del total de niños, 92,4% tenían anemia (HbOBJETIVO: Diagnosticar anemia por deficiência de ferro em crianças. MÉTODOS: O estudo foi desenvolvido com uma amostra de 301 crianças com idade entre seis e 30 meses, usuárias de creches públicas de Recife, PE, em 2004. Para o diagnóstico da anemia utilizou-se a combinação de diferentes parâmetros hematológicos e bioquímicos: hemoglobina, volume corpuscular médio, ferritina, proteína C-reativa, saturação da transferrina e receptor da transferrina. Para a análise estatística empregou-se o teste do qui-quadrado e ANOVA. RESULTADOS: Do total de crianças, 92,4% tinha anemia (Hb < 110g/L e 28,9% apresentou anemia moderada/grave (Hb<90g/L. Níveis mais baixos de hemoglobina foram observados em crianças de seis a 17 meses. Encontrou-se defici

  4. Beta-glucosidase variants and polynucleotides encoding same

    Energy Technology Data Exchange (ETDEWEB)

    Wogulis, Mark; Harris, Paul; Osborn, David

    2017-06-27

    The present invention relates to beta-glucosidase variants, e.g. beta-glucosidase variants of a parent Family GH3A beta-glucosidase from Aspergillus fumigatus. The present invention also relates to polynucleotides encoding the beta-glucosidase variants; nucleic acid constructs, vectors, and host cells comprising the polynucleotides; and methods of using the beta-glucosidase variants.

  5. ANEMIA GESTACIONAL: PREVALÊNCIA E ASPECTOS NUTRICIONAIS RELACIONADOS EM PARTURIENTES DE UM HOSPITAL PÚBLICO DO SUL DO BRASIL

    Directory of Open Access Journals (Sweden)

    Vanessa Winkel ELERT

    2013-08-01

    Full Text Available O objetivo do presente estudo foi verificar a prevalência de anemia em parturientes de um hospital universitário do sul do Brasil, e a associação entre anemia, realização de pré-natal, uso de suplementos ferrosos e hábitos alimentares. Estudo de delineamento transversal com 157 parturientes do Hospital Escola da Universidade Federal de Pelotas. Foi utilizado o hemograma feito rotineiramente pelo hospital e consideradas anêmicas as gestantes com valores de hemoglobina menores que 11g/dL. Foram obtidas informações socioeconômicas, demográficas, de pré-natal e alimentação através de questionário padronizado. O pré- -natal foi realizado por 98,1% das gestantes, tendo 81,2% iniciado o acompanhamento no primeiro trimestre. A suplementação de ferro foi utilizada por 83,4%, sendo que 92,4% fizeram uso diário. O abandono precoce da suplementação de ferro foi relatado por 38,2%, tendo como principal motivo iniciativa própria. A prevalência de anemia foi de 14,7%, e as anêmicas apresentaram hemoglobina signi- ficativamente menor que as não anêmicas. Não houve associação significativa entre anemia e realização de pré-natal, uso de suplementos e hábitos alimentares. A prevalência de anemia gestacional foi aquém da estimada para o Brasil, possivelmente devido à quase universalidade do pré-natal e ao alto índice de uso de suplementação de ferro.

  6. Aerocistite aguda induzida por tioglicolato, lipolisacarídeo e Aeromona hydrophila inativada em Piaractus mesopotamicus: efeitos hematológicos

    Directory of Open Access Journals (Sweden)

    Julieta Rodini Engrácia de Moraes

    2012-10-01

    Full Text Available Os efeitos da injeção de tioglicolato, lipolissacarídio de Escherichia coli e Aeromonas hydrophila inativada na bexiganatatória de pacus, Piaractus mesopotamicus (Characidae foram avaliados quanto às respostas de células vermelhas,leucócitos e trombócitos do sangue. Ensaios quantitativos de eritrócitos, leucócitos e trombócitos foram realizados6, 24 e 48 h após os estímulos e comparados com peixes que receberam solução salina 0,65% pela mesma via. Peixes inoculados com A. hydrophila apresentaram redução do número de eritrócitos e da taxa de hemoglobina enquanto ohematócrito aumentou 6 h após o estímulo. Os resultados mostraram que o tioglicolato e o LPS também induziram redução da hemoglobina e aumento do hematócrito. A contagem de trombócitos diminuiu 6 h após a inoculação deA. hydrophila inativada e aumentou 48 horas após a injeção de LPS. A contagem de leucócitos aumentou 6 h após ainoculação de A. hydrophila enquanto a de linfócitos a leucócitos granulares PAS positivos (PAS_LG diminuiu 24 hdepois. Peixes injetados com tioglicolato o LPS apresentaram aumento do número de LG_PAS em relação aos inoculadoscom A. hydrophila inativada ou grupo controle. A contagem de monócitos não foi afetada pelos diferentes agentes.

  7. Babesiose em cavalos atletas portadores Babesiosis in carrier athletic horses

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    Paulo de Tarso Landgraf Botteon

    2005-10-01

    Full Text Available Este trabalho teve como objetivo avaliar a ocorrência clínica da babesiose em equinos atletas e sua importância no desenvolvimento de doenças intercorrentes. No período de 12 meses, foram avaliados 38 cavalos, identificados como portadores de Babesia equi através do teste de imunofluorescência indireta, participantes de uma das modalidades esportivas: adestramento (n=7; salto (n=8; Concurso Completo de Equitação (n=11 e Pólo (n=12. No período estudado, foram diagnosticados 11 casos clínicos devido a B. equi, o que corresponde a uma incidência de 28,9%. Avaliação clínica e exames hematológicos permitiram identificar queda de desempenho em 5 de 11 animais estudados e ocorrência de anemia em 8 animais avaliados, com diminuição nos valores de eritrócitos, volume globular e concentração da hemoglobina. No período de convalescença, seis dos eqüinos que apresentaram babesiose clínica acidentaram-se, passando a apresentar problemas como claudicação, mialgias, lombalgias ou escoriações e um sofreu fratura de jarrete. Houve interação significativa entre babesiose clínica e a ocorrência de claudicação (P=0,0372 e queda de desempenho (P=0,0009.The aim of this work was to evaluate the clinical occurrence of babesiosis in carrier athletic horses. During 12 monts, 38 horses carriers of B. equi, identified for de imunofluorescent assay test, participants of one of the sporting modalities: Dressage (n=7; jumping (n=8; Eventing (n=11 and Pole (n=12, were evaluated. During this period, 11 clinical cases of babesiosis by B. equi were diagnosed. That corresponded an incidence of 28.9%. Clinical and hematological evaluation showed performance fall and anemia occurrence with decrease in the eritrocites values, globular volume, and hemoglobin concentration. In the convalescence period, six animal that presented clinical babesiosis got injured, with lameness, myalgias, lumbalgias or excoriation and one presented hock fracture. A

  8. Elaboração de tabelas de percentis através de parâmetros antropométricos, de desempenho, bioquímicos, hematológicos, hormonais e psicológicos em futebolistas profissionais

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    Adelino Sanchez Ramos da Silva

    2012-06-01

    Full Text Available INTRODUÇÃO: A carência de valores de referência de parâmetros antropométricos, de desempenho, bioquímicos, hematológicos, hormonais e psicológicos é uma limitação importante nas investigações envolvendo futebolistas profissionais. OBJETIVO: Elaborar tabelas de percentis para servirem como referencial de comparação para estudos posteriores. MÉTODOS: Foram utilizados 82 jogadores profissionais de futebol que foram avaliados aproximadamente 30 dias após o início da principal competição disputada pelas equipes. No primeiro dia de avaliação foram coletadas amostras de sangue (25mL em jejum para determinação dos parâmetros hematológicos (eritrócitos, hemoglobina, hematócrito, volume corpuscular médio - VCM, hemoglobina corpuscular média - HCM, concentração de hemoglobina corpuscular média - CHCM, leucócitos, neutrófilos, eosinófilos, linfócitos, monócitos e plaquetas e das concentrações de adrenalina, cortisol, creatina quinase, creatinina, noradrenalina, testosterona e ureia. Posteriormente, os atletas foram submetidos à avaliação antropométrica e psicológica. Em seguida, a avaliação da eficiência do sistema anaeróbio lático foi realizada em pista oficial de atletismo. No segundo dia foram realizadas as avaliações para determinação da eficiência do sistema anaeróbio alático e aeróbio. RESULTADOS: A distribuição de percentis (P0, P15, P30, P50, P70, P85 e P100 foi utilizada para apresentação dos resultados. CONCLUSÃO: A elaboração de tabelas de percentis pode ser utilizada como referencial de comparação para investigações posteriores.

  9. Frequency of thermostability variants: estimation of total rare variant frequency in human populations

    Energy Technology Data Exchange (ETDEWEB)

    Mohrenweiser, H.W.; Neel, J.V.

    1981-09-01

    Eight erythrocyte enzymes were examine for thermostability in an unselected sample of 100 newborn infants. Three thermolabile variants, one each of lactate dehydrogenase, glucosephosphate isomerase, and glucose-6-phosphate dehydrogenase, were identified, none of which was detectable as a variant by standard electrophoretic techniques. All were inherited. This frequency of 3.8 heritable thermostability variants per 1000 determinations is to be compared with a frequency of electrophoretically detectable variants of 1.1 per 1000 determinations, a frequency of 2.4 enzyme-deficiency variants per 1000 determinations, and a frequency of individuals with rare enzyme deficiency or electrophoretic or thermostability (or both) variants at these loci is 8.4 per 1000 determinations. A similar distribution and frequency is seen when the comparison is limited to the seven loci studied by all techniques. it is clear that not all of the electrophoretic and thermostability variants present in the population are detected by the techniques used in this study. Accordingly, it is estimated that the true frequency of carriers of a rare variant for each of these enzyme-coding loci averages greater than 10/1000. Some implications of these frequencies for human disease are discussed.

  10. Word Variant Identification in Old French

    Directory of Open Access Journals (Sweden)

    Peter Willett

    1997-01-01

    Full Text Available Increasing numbers of historical texts are available in machine-readable form, which retain the original spelling, which can be very different from the modern-day equivalents due to the natural evolution of a language, and because the concept of standardisation in spelling is comparatively modern. Among medieval vernacular writers, the same word could be spelled in different ways and the same author (or scribe might even use several alternative spellings in the same passage. Thus, we do not know,a priori, how many variant forms of a particular word there are in such texts, let alone what these variants might be. Searching on the modern equivalent, or even the commonest historical variant, of a particular word may thus fail to retrieve an appreciable number of occurrences unless the searcher already has an extensive knowledge of the language of the documents. Moreover, even specialist scholars may be unaware of some idiosyncratic variants. Here, we consider the use of computer methods to retrieve variant historical spellings.

  11. Líquen plano e suas variantes - análise de 4 casos

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    Maria Carolina Coelho Gozzano

    2015-10-01

    Full Text Available Líquen (L também se refere à simbiose que ocorre em múltiplos ambientes e em diversas formas. Há muitas variantes de L dermatológicas. L plano (LP é uma dermatose rara, mais comum em mulheres, que acomete sobretudo a pele e mucosas; apresenta pápula poligonal purpúrica pruriginosa e estrias de Wickham. L nítido (LN, de baixa incidência e causa desconhecida, afeta crianças e jovens; apresenta pequenas pápulas planas e assintomáticas, podendo persistir por anos e desaparecer. L plano pilar (LPP, tipo raro de LP, afeta os folículos pilosos - sobretudo o couro cabeludo -, com inflamação peri-folicular e alopecia, podendo ter prurido; a etiologia é desconhecida. L estriado (LE compromete crianças, possui início súbito e progressão linear e pode desaparecer espontaneamente. Objetivo: Discutir e relatar as variantes clínicas de L. Metodologia: Pacientes com diferentes formas de L atendidos em ambulatório de dermatologia em 2015. Resultados: 4 pacientes do sexo feminino. I - 52 anos, refere lesões pruriginosas em tronco e face há 7 meses. Ao exame: pápulas purpúricas e pruriginosas. Estudo histopatológico: acantose irregular, hipergranulose, hiperqueratose, cristas interpapilares alongadas com aspecto serrilhado, hipótese diagnóstica (HD: LP. II - 9 anos, há 2 meses com pequenas pápulas disseminadas, normocrômicas, brilhantes em membros superiores, inferiores e tronco; HD: LN. III - 43 anos, com queda de cabelo há 2 anos. Exames sanguíneos sem alterações e tratamentos anteriores sem melhora. Ao exame: placas cicatriciais e ausência de folículo piloso. HD: LPP. IV - 2 anos, há 3 meses com lesão papulosa, liquenóide e linear em membro superior esquerdo, seguindo a linha de Blaschko. HD: LE. Conclusão: O L possui diversas formas clínicas. É importante conhecê-las e identificá-las a fim de disponibilizar o melhor tratamento ao paciente.

  12. Neonatal Phosphate Nutrition Alters <em>in em>Vivo> and <em>in em>Vitro> Satellite Cell Activity in Pigs

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    Chad H. Stahl

    2012-05-01

    Full Text Available Satellite cell activity is necessary for postnatal skeletal muscle growth. Severe phosphate (PO4 deficiency can alter satellite cell activity, however the role of neonatal PO4 nutrition on satellite cell biology remains obscure. Twenty-one piglets (1 day of age, 1.8 ± 0.2 kg BW were pair-fed liquid diets that were either PO4 adequate (0.9% total P, supra-adequate (1.2% total P in PO4 requirement or deficient (0.7% total P in PO4 content for 12 days. Body weight was recorded daily and blood samples collected every 6 days. At day 12, pigs were orally dosed with BrdU and 12 h later, satellite cells were isolated. Satellite cells were also cultured <em>in vitroem> for 7 days to determine if PO4 nutrition alters their ability to proceed through their myogenic lineage. Dietary PO4 deficiency resulted in reduced (<em>P> < 0.05 sera PO4 and parathyroid hormone (PTH concentrations, while supra-adequate dietary PO4 improved (<em>P> < 0.05 feed conversion efficiency as compared to the PO4 adequate group. <em>In vivoem> satellite cell proliferation was reduced (<em>P> < 0.05 among the PO4 deficient pigs, and these cells had altered <em>in vitroem> expression of markers of myogenic progression. Further work to better understand early nutritional programming of satellite cells and the potential benefits of emphasizing early PO4 nutrition for future lean growth potential is warranted.

  13. Eficácia da vacina anti-rábica ERA em camundongos, frente a quatro diferentes variantes antigênicas do vírus da raiva Evaluation of ERA anti-rabies vaccine against four different antigenic strains of rabies virus in mice

    Directory of Open Access Journals (Sweden)

    Elcio Benedito Erbolato

    1989-12-01

    Full Text Available Estudou-se a eficácia da vacina anti-rábica preparada em cultura primária de tecido renal de suínos, a partir da amostra ERA, na prevenção da raiva em camundongos, frente a quatro cepas antigenicamente distintas do vírus rábico, duas originadas de cão. C/SP e C/NG, uma originada de morcego, DR-19, e uma cepa fixa, CVS (Challenge Vírus Standard. O perfil antigênico desta cepa foi determinado pela técnica dos anticorpos antirrábicos monoclonais antinucleocapside. Os animais foram vacinados, aos 21 dias de idade, por via intramuscular na face interna da coxa, com uma única dose de 0,05 ml de vacina e desafiados aos 42 dias de idade, em conjunto com os animais do grupo testemunho, por via intramuscular na face interna da coxa, com 0,05 ml da suspensão da cepa viral correspondente. Os resultados obtidos permitiram constatar que a vacina ERA protegeu 100% dos animais desafiados com as cepas C/SP, C/NG e DR-19 e 83% dos animais desafiados com à cepa CVS, enquanto que a mortalidade no grupo testemunho variou entre 70 e 90%.ERA anti-rabies vaccine prepared in kidney tissue culture was evaluated against four different antigenic strains of rabies virus in mice: two of them dog strains, C/SP and C/NG, another a bat vampire strain, DR-19, and the CVS strain. The CVS antigenical characteristics were determined by means the antinucleocapsid monoclonal antibodies technique. Twenty one days old mice were vaccinated, intramuscularly, in the inner side of the thigh, with 0.05 ml of vaccine and challenged at 42 days old, together with those of the control group, intramuscularly, in the inner side of the thigh, with 0.05 ml of the corresponding viral strain dilution. The ERA anti-rabies vaccine protected 100% of all the mice challenged with C/SP, C/NG and DR-19 strains and 83% of those challenged with CVS. The control groups mortality rate varied between 70 and 90%.

  14. Estudo da doença de Gaucher em Santa Catarina Study of Gaucher disease in Santa Catarina

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    Jovino S. Ferreira

    2008-02-01

    Full Text Available A doença de Gaucher (DG foi a primeira doença de armazenamento lisossomal descrita e a mais encontrada. Caracteriza-se pela deficiência hereditária da atividade da enzima lisossomal glucocerebrosidase, que bloqueia o metabolismo do glicocerebrosídeo. A proposta deste trabalho foi estudar as características clínicas, laboratoriais e radiológicas, as principais mutações encontradas, relacionando-as com as formas clínicas e avaliar a resposta à terapia de reposição enzimática (TRE nos pacientes com DG em Santa Catarina. Foram estudados dez pacientes com DG no Hospital Universitário, no período entre 1998 e 2003, após confirmação diagnóstica da doença pela dosagem da enzima beta-glicosidase em leucócitos. Pesquisa das mutações foi realizada em amostras de sangue e de mucosa oral. A média de idade ao diagnóstico foi de 19,6 anos. A DG tipo 1 foi diagnosticada em 80% dos casos, e a tipo 2 em 20%. Quatro pacientes tiveram história familiar de DG. Hepatoesplenomegalia foi a manifestação clínica mais comum. Anemia e trombocitopenia ocorreram em 100% dos casos. Dores ósseas foram relatadas por 75% dos pacientes. Os alelos mutantes encontrados foram N370S e L444P. Houve elevação dos níveis de hemoglobina em todos os pacientes com DG tipo 1. Concluímos que a DG tipo 1 é a forma clínica mais comum. Anemia, trombocitopenia, hepatoesplenomegalia e osteopenia são as características mais freqüentes dos pacientes com DG. O alelo N370S é o mais freqüente, estando relacionado com o tipo 1. O alelo L444P em homozigose sugere letalidade precoce. A TRE é segura e efetiva para a DG tipo 1.Gaucher Disease (GD was the first described and is the most common lysosomal deposit disease. It is characterized byahereditary deficiency of glucocerebrosidase lysosomal enzyme activity which blocks the metabolism of glucocerebrosideo. The aim of this work was to study the clinical, laboratorial and radiological characteristics, the main

  15. Wicket spikes: a case-control study of a benign eletroencephalografic variant pattern "Wicket spikes": estudo de variante eletrográfica benigna

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    MARCUS SABRY AZAR BATISTA

    1999-09-01

    Full Text Available Wicket spikes (WS are a benign eletroencephalogram (EEG variant, seen mainly in adults, during somnolence, in the temporal regions, in many clinical situations. WS can appear in trains or isolatedly, sometimes being difficult to differentiate from epileptiform activity. We reviewed 2,000 EEG's, found 65 with WS (3.25% and compared them with 65 normal EEG without WS. There was statistically significant (SS association between WS and age over 33; adolescent age was correlated to absence of WS and age over 65, to the presence of WS; there was an inverse correlation between WS and epilepsy, related to differences in age; a SS association with cerebrovascular disorders disappeared after controlling for age; a SS correlation with headache was also related to age; female predominance was not SS. There was a great variety of clinical situation associated with WS. We conclude that WS are a inespecific normal variant of the EEG that is age-related.As Wicket spikes (WS são um padrão benigno, variante da normalidade do eletrencefalograma (EEG, vistas principalmente em adultos, durante a sonolência, nas regiões temporais, em situações clínicas variadas. WS aparecem em "trens" ou isoladamente, podendo ser difícil diferenciá-las de atividade epileptiforme. Nós revisamos 2.000 EEG e encontramos 65 com WS (3,25% e os comparamos a 65 EEG 's normais sem WS. Encontramos associação estatisticamente significante (ES entre WS e idade acima de 33 anos; adolescência e ausência de WS e idade acima de 65 e presença de WS. Houve correlação inversa entre WS e epilepsia, explicada por diferenças nas médias de idade. A correlação ES entre WS e doença cerebrovascular desapareceu após controlarmos a idade. A correlação ES a cefaléia dependeu de sua relação à idade. A predominância do sexo feminino não foi ES. Houve maior variedade de situações clínicas associadas a WS. WS são uma variante normal do EEG, idade-relacionada.

  16. Hemoglobin Variants: Biochemical Properties and Clinical Correlates

    Science.gov (United States)

    Thom, Christopher S.; Dickson, Claire F.; Gell, David A.; Weiss, Mitchell J.

    2013-01-01

    Diseases affecting hemoglobin synthesis and function are extremely common worldwide. More than 1000 naturally occurring human hemoglobin variants with single amino acid substitutions throughout the molecule have been discovered, mainly through their clinical and/or laboratory manifestations. These variants alter hemoglobin structure and biochemical properties with physiological effects ranging from insignificant to severe. Studies of these mutations in patients and in the laboratory have produced a wealth of information on hemoglobin biochemistry and biology with significant implications for hematology practice. More generally, landmark studies of hemoglobin performed over the past 60 years have established important paradigms for the disciplines of structural biology, genetics, biochemistry, and medicine. Here we review the major classes of hemoglobin variants, emphasizing general concepts and illustrative examples. PMID:23388674

  17. Genetics in psychiatry: common variant association studies

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    Buxbaum Joseph D

    2010-03-01

    Full Text Available Abstract Many psychiatric conditions and traits are associated with significant heritability. Genetic risk for psychiatric conditions encompass rare variants, identified due to major effect, as well as common variants, the latter analyzed by association analyses. We review guidelines for common variant association analyses, undertaking after assessing evidence of heritability. We highlight the importance of: suitably large sample sizes; an experimental design that controls for ancestry; careful data cleaning; correction for multiple testing; small P values for positive findings; assessment of effect size for positive findings; and, inclusion of an independent replication sample. We also note the importance of a critical discussion of any prior findings, biological follow-up where possible, and a means of accessing the raw data.

  18. Warty Carcinoma Penis: An Uncommon Variant.

    Science.gov (United States)

    Thapa, Sushma; Ghosh, Arnab; Shrestha, Santosh; Ghartimagar, Dilasma; Narasimhan, Raghavan; Talwar, O P

    2017-01-01

    Penile carcinoma frequency varies widely in different parts of the world and comprises 1-10% of all the malignancies in males. Majority of the cases of penile carcinoma are squamous cell carcinoma of penis comprising 60% to 70% of all cases. Warty carcinoma of penis is an unusual neoplasm and a variant of penile squamous cell carcinoma comprising 5%-10% of all the variants. The other histological variants include basaloid, verrucous, papillary, sarcomatous, mixed, and adenosquamous carcinoma. The various histological entities with an exophytic papillary lesions including warty carcinoma are together referred to as the "verruciform" group of neoplasms. The warty carcinoma has to be differentiated from these lesions and is typically distinguished by histological features of hyperkeratosis, arborescent papillomatosis, acanthosis, and prominent koilocytosis with nuclear pleomorphism. We present a case of 65-year-old male with growth measuring 6 × 4 cm in the penis who underwent total penectomy and was diagnosed as warty carcinoma penis.

  19. Variants of Monteggia Type Injury: Case Reports

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    Kamudin NAF

    2015-03-01

    Full Text Available Background: Monteggia fracture-dislocation is rare in children. Various reports attest to its rarity, while recording the many variant of this injury. It is, therefore, easy to miss the diagnosis in the absence of proper clinical examination and radiographs. Case Report : This report highlights two rare variants of Monteggia fracture-dislocation seen in children. The first case was a 12-year old girl alleged to have fallen from a 15-feet tall tree and sustaining a combined type III Monteggia injury with ipsilateral Type II Salter-Harris injury of distal end radius with a metaphyseal fracture of the distal third of the ulna. The second case was a 13-year old who had sustained a closed fracture of atypical Type I Monteggia hybrid lesion, in a road traffic accident. Conclusion: This report highlights the rare variants of Monteggia fracture dislocation which could have been missed without proper clinical examinations and radiographs.

  20. Development of industrial variant specification systems

    DEFF Research Database (Denmark)

    Hansen, Benjamin Loer

    With globalisation and increased competition industrial companies must be prepared to satisfy individual customer needs and still stay competitive with regards to lead times, quality, and prices. These factors require companies to be better prepared to handle specification activities during order...... and the challenge of understanding the variant specification tasks and the connections between variant specification, product development, sales, manufacturing, and information technology. The present thesis seeks to meet this challenge with a procedure, concepts and tools. This is done through an extensive answer...... acquisition and order fulfilment, i.e. the creation of drawings, bill-of-materials, routings, product descriptions, quote letters etc. The present thesis is rooted in the assumption that variant specification systems supporting the cross-functional processes of order acquisition and order fulfilment must...

  1. A case of reninoma with variant angina

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    Hyung Ah Jo

    2014-06-01

    Full Text Available Reninoma is a tumor of the renal juxtaglomerular cell apparatus that causes hypertension and hypokalemia because of hypersecretion of renin. We present a case of a 29-year-old female patient with reninoma and concomitant variant angina. The patient had uncontrolled hypertension and elevated plasma renin activity and aldosterone levels. Imaging studies revealed a mass in the left kidney, which was further confirmed as a renin-producing lesion via selective venous catheterization. During the evaluation, the patient had acute-onset chest pain that was diagnosed as variant angina after a provocation test. After partial nephrectomy, the plasma renin activity and plasma aldosterone levels decreased and blood pressure normalized. We report a case of reninoma with variant angina.

  2. Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Rafael, Julianny Freitas; Cruz, Fernando Eugênio Dos Santos; Carvalho, Antônio Carlos Campos de; Gottlieb, Ilan; Cazelli, José Guilherme; Siciliano, Ana Paula; Dias, Glauber Monteiro

    2017-04-01

    Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disease caused by mutations in genes encoding sarcomere proteins. It is the major cause of sudden cardiac death in young high-level athletes. Studies have demonstrated a poorer prognosis when associated with specific mutations. The association between HCM genotype and phenotype has been the subject of several studies since the discovery of the genetic nature of the disease. This study shows the effect of a MYBPC3 compound variant on the phenotypic HCM expression. A family in which a young man had a clinical diagnosis of HCM underwent clinical and genetic investigations. The coding regions of the MYH7, MYBPC3 and TNNT2 genes were sequenced and analyzed. The proband present a malignant manifestation of the disease, and is the only one to express HCM in his family. The genetic analysis through direct sequencing of the three main genes related to this disease identified a compound heterozygous variant (p.E542Q and p.D610H) in MYBPC3. A family analysis indicated that the p.E542Q and p.D610H alleles have paternal and maternal origin, respectively. No family member carrier of one of the variant alleles manifested clinical signs of HCM. We suggest that the MYBPC3-biallelic heterozygous expression of p.E542Q and p.D610H may cause the severe disease phenotype seen in the proband. Resumo A cardiomiopatia hipertrófica (CMH) é uma doença autossômica dominante causada por mutações em genes que codificam as proteínas dos sarcômeros. É a principal causa de morte súbita cardíaca em atletas jovens de alto nível. Estudos têm demonstrado um pior prognóstico associado a mutações específicas. A associação entre genótipo e fenótipo em CMH tem sido objeto de diversos estudos desde a descoberta da origem genética dessa doença. Este trabalho apresenta o efeito de uma mutação composta em MYBPC3 na expressão fenotípica da CMH. Uma família na qual um jovem tem o diagnóstico clínico de CMH foi

  3. Anemia em gestantes de municípios das regiões Sul e Centro-Oeste do Brasil Anemia en mujeres enbarazadas de ciudades de regiones Sur y Centro-Oeste de Brasil Anemia in pregnant women from two cities in the South and Mid-West Regions of Brazil

    Directory of Open Access Journals (Sweden)

    Elizabeth Fujimori

    2009-12-01

    Full Text Available Objetivou-se analisar a distribuição da anemia em gestantes da rede básica de saúde de dois municípios, na região Sul e Centro-Oeste do Brasil. Estudo transversal retrospectivo e descritivo desenvolvido a partir de dados de prontuários de 954 e 781 gestantes em Cuiabá-MT e Maringá-PR, respectivamente. Coletaram-se dados de caracterização sociodemográfica, de pré-natal e indicadores sociais. Foram consideradas anêmicas, as mulheres com hemoglobina inferior a 11g/dL. A desigualdade social existente entre os municípios foi evidente. Gestantes atendidas em Cuiabá-MT apresentavam características sociodemográficas significativamente mais precárias. A prevalência de anemia era significativamente maior e valores médios de hemoglobina menores em Cuiabá-MT, independentemente da idade gestacional. Encontrou-se associação dos níveis de hemoglobina com a idade, situação conjugal, número de gestações anteriores, estado nutricional e trimestre gestacional. As diferenças regionais na ocorrência da anemia gestacional são socialmente determinadas, o que deve ser considerado nas propostas de intervenção em saúde coletiva.Se analizó la distribución de anemia en mujeres embarazadas asistidas en servicios básicos de salud de dos ciudades de las regiones Sur y Centro-Oeste de Brasil. Estudio transversal retrospectivo y descriptivo. Se usó datos de registros médicos de 954 y 781 embarazadas de Cuiabá-MT y Maringá-PR, respectivamente. Se recopilaron datos sobre características sociodemográficas, atención prenatal e indicadores sociales. Hemoglobina-HbWe aimed to analyze anemia distribution in pregnant women who were attending health services in two cities in the South and Mid-West Regions in Brazil. This is a retrospective cross-sectional study developed from 954 and 781 medical records data in Cuiabá-MT and Maringá-PR. We collected data of social and demographic features as well as pre-natal care. Women who presented

  4. Constituents from <em>Vigna em>vexillata> and Their Anti-Inflammatory Activity

    Directory of Open Access Journals (Sweden)

    Guo-Feng Chen

    2012-08-01

    Full Text Available The seeds of <em>Vigna em>genus are important food resources and there have already been many reports regarding their bioactivities. In our preliminary bioassay, the chloroform layer of methanol extracts of<em> V. vexillata em>demonstrated significant anti-inflammatory bioactivity. Therefore, the present research is aimed to purify and identify the anti-inflammatory principles of <em>V. vexillataem>. One new sterol (1 and two new isoflavones (2,3 were reported from the natural sources for the first time and their chemical structures were determined by the spectroscopic and mass spectrometric analyses. In addition, 37 known compounds were identified by comparison of their physical and spectroscopic data with those reported in the literature. Among the isolates, daidzein (23, abscisic acid (25, and quercetin (40 displayed the most significant inhibition of superoxide anion generation and elastase release.

  5. Atenção primária em diabetes no Sul do Brasil: estrutura, processo e resultado

    Directory of Open Access Journals (Sweden)

    Maria Cecília F Assunção

    2001-02-01

    Full Text Available OBJETIVO: Descrever e avaliar a estrutura, o processo e o resultado do cuidado do paciente diabético atendido em nível primário de atenção à saúde em Pelotas, RS. MÉTODOS: O delineamento foi transversal. Foram estudados todos os 32 postos de saúde e 61 médicos que atendem pacientes diabéticos nesses locais. Foi identificada uma amostra de 378 pacientes que tiveram consulta médica nos postos. Os pacientes foram entrevistados em casa, e sua glicemia capilar, pressão arterial e índice de massa corporal foram avaliados e comparados a padrões. Componentes da estrutura e do processo de atendimento foram comparados a padrões recomendados ao manejo de pacientes diabéticos. RESULTADOS: A maioria dos serviços carece de aproximadamente todos os requerimentos mínimos. A aferição da pressão arterial foi o item do exame físico mais relatado na visita inicial. Como plano de tratamento na consulta inicial, cerca de 85% dos médicos relataram prescrever dieta, e 72% exercício físico. Todos os médicos relataram solicitar glicemia de jejum, e 60% hemoglobina glicosilada na monitorização laboratorial dos pacientes. O controle da doença variou de 6% a 11%, conforme os diferentes parâmetros utilizados. CONCLUSÕES: A rede pública de saúde está deficiente, mas existe potencial de melhoria dos três aspectos (estrutura, processo e resultado através de treinamento em serviço e seguimento de normas-padrão.

  6. Atenção primária em diabetes no Sul do Brasil: estrutura, processo e resultado

    Directory of Open Access Journals (Sweden)

    Assunção Maria Cecília F

    2001-01-01

    Full Text Available OBJETIVO: Descrever e avaliar a estrutura, o processo e o resultado do cuidado do paciente diabético atendido em nível primário de atenção à saúde em Pelotas, RS. MÉTODOS: O delineamento foi transversal. Foram estudados todos os 32 postos de saúde e 61 médicos que atendem pacientes diabéticos nesses locais. Foi identificada uma amostra de 378 pacientes que tiveram consulta médica nos postos. Os pacientes foram entrevistados em casa, e sua glicemia capilar, pressão arterial e índice de massa corporal foram avaliados e comparados a padrões. Componentes da estrutura e do processo de atendimento foram comparados a padrões recomendados ao manejo de pacientes diabéticos. RESULTADOS: A maioria dos serviços carece de aproximadamente todos os requerimentos mínimos. A aferição da pressão arterial foi o item do exame físico mais relatado na visita inicial. Como plano de tratamento na consulta inicial, cerca de 85% dos médicos relataram prescrever dieta, e 72% exercício físico. Todos os médicos relataram solicitar glicemia de jejum, e 60% hemoglobina glicosilada na monitorização laboratorial dos pacientes. O controle da doença variou de 6% a 11%, conforme os diferentes parâmetros utilizados. CONCLUSÕES: A rede pública de saúde está deficiente, mas existe potencial de melhoria dos três aspectos (estrutura, processo e resultado através de treinamento em serviço e seguimento de normas-padrão.

  7. Variant profiling of evolving prokaryotic populations

    Directory of Open Access Journals (Sweden)

    Markus Zojer

    2017-02-01

    Full Text Available Genomic heterogeneity of bacterial species is observed and studied in experimental evolution experiments and clinical diagnostics, and occurs as micro-diversity of natural habitats. The challenge for genome research is to accurately capture this heterogeneity with the currently used short sequencing reads. Recent advances in NGS technologies improved the speed and coverage and thus allowed for deep sequencing of bacterial populations. This facilitates the quantitative assessment of genomic heterogeneity, including low frequency alleles or haplotypes. However, false positive variant predictions due to sequencing errors and mapping artifacts of short reads need to be prevented. We therefore created VarCap, a workflow for the reliable prediction of different types of variants even at low frequencies. In order to predict SNPs, InDels and structural variations, we evaluated the sensitivity and accuracy of different software tools using synthetic read data. The results suggested that the best sensitivity could be reached by a union of different tools, however at the price of increased false positives. We identified possible reasons for false predictions and used this knowledge to improve the accuracy by post-filtering the predicted variants according to properties such as frequency, coverage, genomic environment/localization and co-localization with other variants. We observed that best precision was achieved by using an intersection of at least two tools per variant. This resulted in the reliable prediction of variants above a minimum relative abundance of 2%. VarCap is designed for being routinely used within experimental evolution experiments or for clinical diagnostics. The detected variants are reported as frequencies within a VCF file and as a graphical overview of the distribution of the different variant/allele/haplotype frequencies. The source code of VarCap is available at https://github.com/ma2o/VarCap. In order to provide this workflow to

  8. Mining business process variants: Challenges, scenarios, algorithms

    NARCIS (Netherlands)

    Li, C.; Reichert, M.U.; Wombacher, Andreas

    During the last years a new generation of process-aware information systems has emerged, which enables process model configurations at buildtime as well as process instance changes during runtime. Respective model adaptations result in a large number of model variants that are derived from the same

  9. Probabilistic Transcriptome Assembly and Variant Graph Genotyping

    DEFF Research Database (Denmark)

    Sibbesen, Jonas Andreas

    that this approach outperforms existing state-of-the-art methods measured using sensitivity and precision on both simulated and real data. The second is a novel probabilistic method that uses exact alignment of k-mers to a set of variants graphs to provide unbiased estimates of genotypes in a population...

  10. HLogo: a parallel Haskell variant of Netlogo

    NARCIS (Netherlands)

    N. Bezirgiannis (Nikolaos); Prasetya, I.S.W.B.; Sakellariou, I.

    2016-01-01

    textabstractAgent-based Modeling (ABM) has become quite popular to the simulation community for its usability and wide area of applicability. However, speed is not usually a trait that ABM tools are characterized of attaining. This paper presents HLogo, a parallel variant of the NetLogo ABM

  11. XVCL: XML-based Variant Configuration Language

    DEFF Research Database (Denmark)

    Jarzabek, Stan; Basset, Paul; Zhang, Hongyu

    2003-01-01

    XVCL (XML-based Variant Configuration Language) is a meta-programming technique and tool that provides effective reuse mechanisms. XVCL is an open source software developed at the National University of Singapore. Being a modern and versatile version of Bassett's frames, a technology that has...

  12. Variants of the left aortic arch branches

    African Journals Online (AJOL)

    ORIGINAL ARTICLE. Variants of the left aortic arch branches. N Z Makhanya. MB ChB. R T Mamogale. MB 0113. N Khan. FCRaD (0). Department of Diagnostic Radiology. Medical University of Southern Africa. Abstract. The normal aorta has three branches from its arch, but variations in this pattern are not uncommon. Our.

  13. New genetic variants associated with prostate cancer

    Science.gov (United States)

    Researchers have newly identified 23 common genetic variants -- one-letter changes in DNA known as single-nucleotide polymorphisms or SNPs -- that are associated with risk of prostate cancer. These results come from an analysis of more than 10 million SNP

  14. Psychiatric misdiagnoses in Dandy-Walker variant.

    Science.gov (United States)

    Blaettner, C; Pfaffenberger, N M; Cartes-Zumelzu, F; Hofer, A

    2015-01-01

    Cases of intellectual impairment and aberrant behavior in patients with cerebellar diseases have been described since the early nineteenth century. Here, we report on a patient suffering from Dandy-Walker variant who presented with symptoms of obsessive compulsive disorder and delusional disorder. The current findings emphasize the potential relevance of focal cerebellar lesions as organic correlates of these disorders.

  15. Developing consistent pronunciation models for phonemic variants

    CSIR Research Space (South Africa)

    Davel, M

    2006-09-01

    Full Text Available from a lexicon containing variants. In this paper we (the authors) address both these issues by creating ‘pseudo-phonemes’ associated with sets of ‘generation restriction rules’ to model those pronunciations that are consistently realised as two or more...

  16. Mining Process Model Variants: Challenges, Techniques, Examples

    NARCIS (Netherlands)

    Li, C.

    2010-01-01

    During the last years a new generation of process-aware information systems has emerged, which enables process model configurations at buildtime as well as process instance changes during runtime. Respective model adaptations result in large collections of process model variants that are derived

  17. Cellobiohydrolase I gene and improved variants

    Science.gov (United States)

    Adney, William S [Golden, CO; Decker, Stephen R [Berthoud, CO; Mc Carter, Suzanne [San Carlos, CA; Baker, John O [Golden, CO; Nieves, Raphael [Lakewood, CO; Himmel, Michael E [Littleton, CO; Vinzant, Todd B [Golden, CO

    2008-05-20

    The disclosure provides a method for preparing an active exoglucanase in a heterologous host of eukaryotic origin. The method includes mutagenesis to reduce glycosylation of the exoglucanase when expressed in a heterologous host. It is further disclosed a method to produce variant cellobiohydrolase that is stable at high temperature through mutagenesis.

  18. Report of a rare anatomic variant

    DEFF Research Database (Denmark)

    De Brucker, Y; Ilsen, B; Muylaert, C

    2015-01-01

    We report the CT findings in a case of partial anomalous pulmonary venous return (PAPVR) from the left upper lobe in an adult. PAPVR is an anatomic variant in which one to three pulmonary veins drain into the right atrium or its tributaries, rather than into the left atrium. This results in a lef...

  19. PIN1 gene variants in Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    Siedlecki Janusz

    2009-11-01

    Full Text Available Abstract Background Peptidyl-prolyl isomerase, NIMA-interacting 1 (PIN1 plays a significant role in the brain and is implicated in numerous cellular processes related to Alzheimer's disease (AD and other neurodegenerative conditions. There are confounding results concerning PIN1 activity in AD brains. Also PIN1 genetic variation was inconsistently associated with AD risk. Methods We performed analysis of coding and promoter regions of PIN1 in early- and late-onset AD and frontotemporal dementia (FTD patients in comparison with healthy controls. Results Analysis of eighteen PIN1 common polymorphisms and their haplotypes in EOAD, LOAD and FTD individuals in comparison with the control group did not reveal their contribution to disease risk. In six unrelated familial AD patients four novel PIN1 sequence variants were detected. c.58+64C>T substitution that was identified in three patients, was located in an alternative exon. In silico analysis suggested that this variant highly increases a potential affinity for a splicing factor and introduces two intronic splicing enhancers. In the peripheral leukocytes of one living patient carrying the variant, a 2.82 fold decrease in PIN1 expression was observed. Conclusion Our data does not support the role of PIN1 common polymorphisms as AD risk factor. However, we suggest that the identified rare sequence variants could be directly connected with AD pathology, influencing PIN1 splicing and/or expression.

  20. Valores hematológicos e bioquímicos de pinguins-de-Magalhães em reabilitação no Espírito Santo, sudeste do Brasil

    Directory of Open Access Journals (Sweden)

    Luis F.S.P. Mayorga

    Full Text Available Resumo: Este trabalho apresenta valores hematológicos e bioquímicos de pinguins-de-Magalhães (Spheniscus magellanicus juvenis que arribaram no Espírito Santo e Rio de Janeiro, litoral sudeste do Brasil, e foram encaminhados a reabilitação. Os valores médios obtidos foram: eritrócitos 2.55±0.54 milhões/μL; hemoglobina 13,37±3,91g/dL; hematócrito 41,5±0,04%; proteína plasmática 6,34±0,81g/dL; leucócitos 16.301±6.402/μL; trombócitos 20.516±4.591 células/μL; volume corpuscular médio (VCM 172,0±53,0 fL; concentração de hemoglobina corpuscular média (CHCM 26,41±0,02%; alanina transaminase (ALT 50,0±17,89 U/L; ácido úrico 8,93±3,0mg/dL; albumina 1,68±0,53g/dL; cálcio 9,7±0,57mg/dL; fósforo 10,39±8,5mg/dL e glicose 211,6±30,3mg/dL. Valores de eritrócitos, VCM e CHCM foram discrepantes em relação aos valores de referência atuais. Valores de leucócitos e trombócitos tem significado inconclusivo. Hematócrito, hemoglobina, proteína plasmática e valores bioquímicos forneceram importante contribuição para o estabelecimento de parâmetros de referência.

  1. Alterações hematológicas em coelhos infectados experimentalmente pelo Trypanosoma evansi Hematological changes in rabbits experimentally infected by Trypanosoma evansi

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    Aleksandro Schafer da Silva

    2008-04-01

    Full Text Available O objetivo deste trabalho foi avaliar as alterações hematológicas em coelhos infectados experimentalmente pelo Trypanosoma evansi. Foram utilizados seis coelhos, machos, divididos em dois grupos, sendo o grupo controle composto de animais não infectados e o grupo teste formado por roedores infectados com T. evansi. Os animais foram mantidos em temperatura ambiente e analisados por 120 dias, através de cinco coletas de sangue nos dias 1, 20, 40, 60 e 120. As alterações hematológicas foram observadas na segunda e terceira coletas de sangue. Nos animais com parasitemia, foi observada uma redução no número de hemácias, de concentração de hemoglobina no hematócrito, na concentração de hemoglobina corpuscular média (CHCM, e um aumento do volume corpuscular médio (VCM, sugerindo uma anemia macrocítica hipocrômica no período de 20, 40 e 60 dias. Os coelhos infectados também apresentaram leucopenia e linfopenia, além de uma redução significativa no número de neutrófilos e monócitos, quando comparados com os animais do grupo controle.The present paper was aimed at evaluating hematological changes in rabbits experimentally infected by Trypanosoma evansi. Six male rabbits divided in to two groups were used, being the control group composed of non-infected animals and the test group composed of animals infected by T. evansi. The animals were kept at room temperature and were analyzed during 120 days, by blood collections on days 1, 20, 40, 60 and 120. Hematological changes were observed in the second and third blood collections and the animals with parasitism had a decrease in blood cells, hemoglobin concentration, hematocrit and mean capsular hemoglobin concentration (MCHC and an increase in the mean capsular volume (MCV suggesting a macrocytic hypocrhomic anemia on days 20, 40 and 60. The infected rabbits also presented leucopenia and lymphopenia, as well a significant decrease of neutrophil and monocite counts in comparison to

  2. ALTERAÇÕES METABÓLICAS E HEMATOLÓGICAS EM JUNDIÁS (Rhamdia quelen ALIMENTADOS COM RAÇÕES CONTENDO AFLATOXINAS

    Directory of Open Access Journals (Sweden)

    Milene Braga da Fonseca

    2006-10-01

    Full Text Available A presente pesquisa teve por objetivo verificar a influência de diferentes níveis de aflatoxinas sobre alguns parâmetros metabólicos e hematológicos em alevinos de jundiá (Rhamdia quelen, utilizando-se peixes com peso inicial de 3,0 gramas, criados em sistema de recirculação de água, durante 45 dias, com quatro tratamentos experimentais, sendo um controle e três níveis de aflatoxinas: 41, 90 e204 ppb de aflatoxinas/kg de ração. Os resultados obtidos demonstraram redução nos valores de hematócrito, hemoglobina e glicose sangüínea dos peixes, proporcionalmente aos níveis crescentes de incorporação de aflatoxinas na dieta. Quanto aos metabólitos no tecido hepático e muscular, a principal alteração foi a redução nos teores de proteína muscular e hepática em resposta aos níveis adicionados. Conclui-se que, para os níveis de aflatoxinas testados, ocorre diminuição dos parâmetros hematológicos em alevinos de jundiá. Ocorre também utilização da proteína do músculo e do fígado pelos peixes,sendo que as outras alterações metabólicas podem ser consideradas adaptações do peixe em relação à intoxicação. PALAVRAS-CHAVE: Aflatoxinas, hematócrito, intoxicação, metabólitos, Rhamdia quelen.

  3. Efeito do uso da farinha desengordurada do Sesamum indicum L nos níveis glicêmicos em diabéticas tipo 2

    Directory of Open Access Journals (Sweden)

    Angela Siqueira Figueiredo

    Full Text Available Existe um incremento nas pesquisas de plantas e grãos com atividades hipoglicemiantes para prevenção e terapêutica do Diabetes Mellitus, que aumenta em grandes proporções mundialmente. Este estudo avalia o efeito do uso da farinha desengordurada do Sesamum indicum L. nos níveis glicêmicos de diabéticas tipo II submetidas a tratamento dietoterápico. Ensaio clínico controlado e aberto, em dois grupos, experimental (GE e controle (GC com avaliação na linha de base (AB, aos 30 (A-30 e 60 dias (A-60. As características gerais não apresentaram diferenças estatísticas entre os grupos. Observou-se diferença estatística significativa na glicemia de jejum (GJ (p = 0,004 na AB, na GJ (p = 0,002 e peso (p = 0,020 na A30, e apenas no peso (p = 0,011 na A60. Nas glicemias pós-prandiais (GP e hemoglobinas glicosiladas não houve diferença estatística em nenhuma das avaliações entre os grupos. Evidenciou-se diferença estatística entre a AB - A30 em relação ao peso nos dois grupos, e na AB - A60 na GP (p = 0,04 e peso (p = 0,01 no GE, mas apenas no peso (p = 0,03 no GC. A farinha de gergelim contribuiu no controle glicêmico e no peso em pacientes diabéticas, de forma econômica, saborosa e saudável.

  4. Rare variant density across the genome and across populations

    OpenAIRE

    Raska Paola; Zhu Xiaofeng

    2011-01-01

    Abstract Next-generation sequencing allows for a new focus on rare variant density for conducting analyses of association to disease and for narrowing down the genomic regions that show evidence of functionality. In this study we use the 1000 Genomes Project pilot data as distributed by Genetic Analysis Workshop 17 to compare rare variant densities across seven populations. We made the comparisons using regressions of rare variants on total variant counts per gene for each population and Taji...

  5. em arquitetura e urbanismo

    Directory of Open Access Journals (Sweden)

    Ana Maria Sala Minucci Martins

    2006-01-01

    Full Text Available Está sendo desenvolvido projeto de pesquisa denominado Geometria Fractal e suas Aplicações em Arquitetura e Urbanismo, com o fito de estudar e desenvolver ferramentas analíticas e propositivas para serem aplicadas em arquitetura e urbanismo, com base em conceitos provenientes da geometria fractal.

  6. Processing of No-Release Variants in Connected Speech

    Science.gov (United States)

    LoCasto, Paul C.; Connine, Cynthia M.

    2011-01-01

    The cross modal repetition priming paradigm was used to investigate how potential lexically ambiguous no-release variants are processed. In particular we focus on segmental regularities that affect the variant's frequency of occurrence (voicing of the critical segment) and phonological context in which the variant occurs (status of the following…

  7. The power of multiplexed functional analysis of genetic variants.

    Science.gov (United States)

    Gasperini, Molly; Starita, Lea; Shendure, Jay

    2016-10-01

    New technologies have recently enabled saturation mutagenesis and functional analysis of nearly all possible variants of regulatory elements or proteins of interest in single experiments. Here we discuss the past, present, and future of such multiplexed (functional) assays for variant effects (MAVEs). MAVEs provide detailed insight into sequence-function relationships, and they may prove critical for the prospective clinical interpretation of genetic variants.

  8. GAVIN : Gene-Aware Variant INterpretation for medical sequencing

    NARCIS (Netherlands)

    van der Velde, K Joeri; de Boer, Eddy N; van Diemen, Cleo C; Sikkema-Raddatz, Birgit; Abbott, Kristin M; Knopperts, Alain; Franke, Lude; Sijmons, Rolf H; de Koning, Tom J; Wijmenga, Cisca; Sinke, Richard J; Swertz, Morris A

    2017-01-01

    We present Gene-Aware Variant INterpretation (GAVIN), a new method that accurately classifies variants for clinical diagnostic purposes. Classifications are based on gene-specific calibrations of allele frequencies from the ExAC database, likely variant impact using SnpEff, and estimated

  9. Variant of Rett syndrome and CDKL5 gene

    DEFF Research Database (Denmark)

    Pini, Giorgio; Bigoni, Stefania; Engerström, Ingegerd Witt

    2012-01-01

    UNLABELLED: Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene. AIMS: In recent years more than 60 patients with mutations in the CDKL5 gene have...... the general Rett population, suggesting a specific behavioral and cardiorespiratory phenotype of the RTT the Hanefeld variant....

  10. Anemia em crianças menores de 3 anos que freqüentam creches públicas em período integral

    Directory of Open Access Journals (Sweden)

    Brunken Gisela S.

    2002-01-01

    Full Text Available Objetivo:estudar a prevalência de anemia em crianças menores de 36 meses de idade, freqüentando creches públicas de Cuiabá, em período integral.Métodos: trata-se de estudo transversal, com o universo de crianças (n=271 menores de 36 meses de idade, presentes nas creches públicas em meados de 1997, avaliadas quanto à concentração de hemoglobina (sangue venoso, analisado no Laboratório Central do Estado e indicadores antropométricos (peso/idade, altura/idade, peso/altura.Resultados: foi encontrada elevada prevalência de anemia (63% e de anemia grave (22,5%. A anemia mostrou-se associada com idade, déficit ponderal e estatural e com tempo de ingresso na creche. A prevalência de desnutrição (< -2 z-score foi de 0,8% de acordo com o índice de peso/altura, 5,0% segundo peso/idade, e 10,3% de inadequação na altura/idade. A proporção de crianças anêmicas foi, portanto, 6 vezes maior do que o déficit de altura e 12 vezes maior que o déficit ponderal. A desnutrição, em geral, não apresentava-se associada com anemia, mas, tomando-se como ponto-de-corte valores extremos de déficits antropométricos (< -2 z-score, seja de altura ou de peso para idade, percebe-se associação com anemia.Conclusões: a elevada prevalência de anemia caracteriza a situação como um grave problema de saúde pública entre os pré-escolares de Cuiabá.

  11. Triagem de hemoglobinopatias em doadores de sangue de Caxias do Sul, Rio Grande do Sul, Brasil: prevalência em área de colonização italiana Screening for hemoglobinopathies in blood donors from Caxias do Sul, Rio Grande do Sul, Brazil: prevalence in an Italian colony

    Directory of Open Access Journals (Sweden)

    Cristina Lucia Alberti Lisot

    2004-12-01

    Full Text Available A alta prevalência de beta-talassemia em italianos e a participação dos mesmos na formação étnica da cidade de Caxias do Sul e arredores, Rio Grande do Sul, Brasil, conduziram-nos à investigação de hemoglobinopatias em uma amostra de 608 doadores de sangue do Hemocentro Regional de Caxias do Sul. Apesar da influência étnica, encontramos 1,81% de hemoglobinas anormais (0,16% Hb AC, 0,99%, Hb AS e 0,66% Hb AH, um padrão similar com o estudo do interior do Estado do Rio Grande do Sul para alterações qualitativas. Para as talassemias, as técnicas mais comuns, cruzadas com seqüenciamento de DNA, em nossas mãos, não foram capazes de esclarecer anormalidades quantitativas da hemoglobina. Esse resultado pode ser atribuído a alterações genéticas ainda não conhecidas, a limitações técnicas ou, mais simplesmente, à miscigenação.The high prevalence of beta thalassemia among Italians and their participation in the ethnic formation of Caxias do Sul, Rio Grande do Sul State, Brazil, and neighboring cities prompted us to investigate hemoglobinopathies in 608 blood donors at the Caxias do Sul Regional Blood Center. Despite the ethnic influence, abnormal hemoglobin levels were found in only 1.81% of the donors (0.16% Hb AC, 0.99% Hb AS, and 0.66% Hb AH, similar to the levels observed in a study on qualitative disorders conducted in the rural area of Rio Grande do Sul. In our setting, the most commonly used screening tests for thalassemia, combined with DNA sequencing, were unable to detect quantitative hemoglobin synthesis disorders. This may be attributable to still-unknown genetic disorders, technical limitations, or simply to miscegenation.

  12. Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants.

    Directory of Open Access Journals (Sweden)

    Mengmeng Du

    Full Text Available Genome-wide association studies (GWAS have identified many common single nucleotide polymorphisms (SNPs associated with colorectal cancer risk. These SNPs may tag correlated variants with biological importance. Fine-mapping around GWAS loci can facilitate detection of functional candidates and additional independent risk variants. We analyzed 11,900 cases and 14,311 controls in the Genetics and Epidemiology of Colorectal Cancer Consortium and the Colon Cancer Family Registry. To fine-map genomic regions containing all known common risk variants, we imputed high-density genetic data from the 1000 Genomes Project. We tested single-variant associations with colorectal tumor risk for all variants spanning genomic regions 250-kb upstream or downstream of 31 GWAS-identified SNPs (index SNPs. We queried the University of California, Santa Cruz Genome Browser to examine evidence for biological function. Index SNPs did not show the strongest association signals with colorectal tumor risk in their respective genomic regions. Bioinformatics analysis of SNPs showing smaller P-values in each region revealed 21 functional candidates in 12 loci (5q31.1, 8q24, 11q13.4, 11q23, 12p13.32, 12q24.21, 14q22.2, 15q13, 18q21, 19q13.1, 20p12.3, and 20q13.33. We did not observe evidence of additional independent association signals in GWAS-identified regions. Our results support the utility of integrating data from comprehensive fine-mapping with expanding publicly available genomic databases to help clarify GWAS associations and identify functional candidates that warrant more onerous laboratory follow-up. Such efforts may aid the eventual discovery of disease-causing variant(s.

  13. Unusual variant of Cantrell′s pentalogy?

    Directory of Open Access Journals (Sweden)

    Kumar Basant

    2008-01-01

    Full Text Available A 12-hour-old male infant presented with prolapsed abdominal content through a defect on left side of chest wall with respiratory distress. A thorough clinical examination suggested absence of ectopia cordis, abdominal wall defect, and any bony anomaly. The child expired after 6 hours of admission because of respiratory distress and electrolyte imbalance. Is congenital defect of chest wall associated with diaphragmatic hernia without ectopia cordis and omphalocele, an unusual variant of Cantrell′s pentalogy?

  14. Prevalência da anemia e fatores associados em crianças de seis a 59 meses de Pernambuco

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    Luciana Pedrosa Leal

    2011-06-01

    Full Text Available OBJETIVO: Estimar a prevalência de anemia e identificar seus fatores associados em crianças de seis a 59 meses. MÉTODOS: Estudo transversal com dados da III Pesquisa Estadual de Saúde e Nutrição/Pernambuco em amostra representativa de 1.403 crianças para as áreas urbana e rural. A anemia foi diagnosticada pela dosagem da hemoglobina. A análise multivariada foi realizada a partir de um modelo hierárquico, utilizando a regressão de Poisson, com variância robusta para estimar a razão de prevalência em função de variáveis: biológicas, de morbidade e estado nutricional da criança, socioeconômicas, de habitação, de saneamento e fatores maternos. RESULTADOS: A prevalência ponderada de anemia foi de 32,8%: 31,5% na área urbana e 36,6% na rural. Na área urbana, as variáveis que se associaram significantemente à anemia foram: escolaridade materna, bens de consumo, número de crianças menores de cinco anos no domicílio, tratamento da água de beber, idade e anemia materna e idade da criança. Na área rural, apenas a idade materna e a idade da criança associaram-se de modo significante à anemia. CONCLUSÕES: A prevalência de anemia nas crianças pernambucanas é semelhante nas áreas urbana e rural. Os fatores associados à anemia apresentados devem ser considerados no planejamento de medidas efetivas para o seu controle.

  15. International EMS Systems

    DEFF Research Database (Denmark)

    Langhelle, Audun; Lossius, Hans Morten; Silfvast, Tom

    2004-01-01

    is the only country that has emergency medicine (EM) as a recognised speciality but there is a need for more fully trained specialists in EM; (4) Norway: the ordinary ground ambulance is pointed out as the weakest link in the EM chain and a health reform demands extensive co-operation between the new health...... enterprises to re-establish a nation-wide air ambulance service; (5) Sweden: to create evidence based medicine standards for treatment in emergency medicine, a better integration of all part of the chain of survival, a formalised education in EM and a nation wide physician staffed helicopter EMS (HEMS) cover....

  16. EM International. Volume 1

    Energy Technology Data Exchange (ETDEWEB)

    1993-07-01

    It is the intent of EM International to describe the Office of Environmental Restoration and Waste Management`s (EM`s) various roles and responsibilities within the international community. Cooperative agreements and programs, descriptions of projects and technologies, and synopses of visits to international sites are all highlighted in this semiannual journal. Focus on EM programs in this issue is on international collaboration in vitrification projects. Technology highlights covers: in situ sealing for contaminated sites; and remote sensors for toxic pollutants. Section on profiles of countries includes: Arctic contamination by the former Soviet Union, and EM activities with Germany--cooperative arrangements.

  17. Novel RNA variants in colorectal cancers.

    Science.gov (United States)

    Hoff, Andreas M; Johannessen, Bjarne; Alagaratnam, Sharmini; Zhao, Sen; Nome, Torfinn; Løvf, Marthe; Bakken, Anne C; Hektoen, Merete; Sveen, Anita; Lothe, Ragnhild A; Skotheim, Rolf I

    2015-11-03

    With an annual estimated incidence of 1.4 million, and a five-year survival rate of 60%, colorectal cancer (CRC) is a major clinical burden. To identify novel RNA variants in CRC, we analyzed exon-level microarray expression data from a cohort of 202 CRCs. We nominated 25 genes with increased expression of their 3' parts in at least one cancer sample each. To efficiently investigate underlying transcript structures, we developed an approach using rapid amplification of cDNA ends followed by high throughput sequencing (RACE-seq). RACE products from the targeted genes in 23 CRC samples were pooled together and sequenced. We identified VWA2-TCF7L2, DHX35-BPIFA2 and CASZ1-MASP2 as private fusion events, and novel transcript structures for 17 of the 23 other candidate genes. The high-throughput approach facilitated identification of CRC specific RNA variants. These include a recurrent read-through fusion transcript between KLK8 and KLK7, and a splice variant of S100A2. Both of these were overrepresented in CRC tissue and cell lines from external RNA-seq datasets.

  18. [Dandy-Walker variant: Case report].

    Science.gov (United States)

    Cueva-Núñez, José E; Lozano-Bustillo, Alejandra; Irias-Álvarez, Merlyn S; Vásquez-Montes, Raúl F; Varela-González, Douglas M

    Dandy Walker variant is defined by a variable hypoplasia of the cerebellar vermix with or without posterior fossa increase and without tentorium elevation. describe the case of a rare disease and emphasise the need to clarify the aetiology of prenatal malformations, as well as its multidisciplinary management. A male patient, 8 years of age, with a history of Infantile Cerebral Palsy and epilepsy, who was admitted with a history of tonic-clonic seizures. He was admitted due to psycho-motor developmental delay. During his hospitalisation, he had multiple seizure episodes, controlled with anticonvulsants. A computerized tomography was performed, in which communication was observed between the cisterna magna and fourth ventricle (the latter increased in size). In addition, the cerebellar vermix showed a partial hypoplasia. All these findings were compatible with a variant of the Dandy Walker syndrome. Dandy Walker variant may be asymptomatic and the images found may not indicate them as the cause of developmental disorders, due to its association with multiple syndromes and chromosomal abnormalities. Clinical presentation and prognosis depends on the related disorders, and a multidisciplinary approach is important, because the treatment depends on the symptoms presented. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  19. A variação de preposições com verbo ir de movimento em comunidades rurais do semiárido baiano A variação de preposições com verbo ir de movimento em comunidades rurais do semiárido baiano

    Directory of Open Access Journals (Sweden)

    Hilmara Moura de JESUS

    2012-06-01

    Full Text Available This article consists in the analysis of variable regency of the verb <em>ir em>concerning movement in the dialect from communities of Matinha, district of Feira de Santana, Piabas, located in the city of Caem, a former district of Jacobina, Barra / Bananal and MatoGrosso, in ChapadaDiamantina, Casinhas, Tapera e Lagoa do Inácio, in Jeremoabo. For the development of research, we used a sample drawn from 72 informants who make up the corpus of the project “A Língua Portuguesa no Semi-áridoBaiano”. Based on the ambit of Sociolinguistics Variacionist, the present study is aimed to describe the phenomenon of change involving the prepositions <em>a>, <em>para em>e <em>em em>introduced by the verb <em>ir em>of movement and examine the factors that influence (linguistic and sociolinguistic the use of these prepositions. The results hint at a change practically concluded, since it had found only six instances with the preposition <em>a>. Among the 582 events that constitute the corpora are highlighted with 418 achievements for the variant para (71% and 164 with the variant em (29%. The statistical Goldvarb 2001 shows the variables <em>degree of definiteness of the locative name, stay in place, the person speaking, community, tense, sex / gender, education, (indetermination of the subject and speech narrativeem> as the determining variable in the regency of the verb irof movement.Este artigo consiste na análise da regência variável do verbo <em>ir> de movimento no dialeto das comunidades de Matinha, distrito de Feira de Santana, Piabas, localizada no município de Caém, antigo distrito de Jacobina, Barra/Bananal e Mato Grosso, na Chapada Diamantina, Casinhas, Tapera e Lagoa do Inácio, em Jeremoabo. Para o desenvolvimento da pesquisa, foi utilizada uma amostra extraída de 72 informantes que compõem o <em>corpus em>do Projeto “A Língua Portuguesa no Semiárido Baiano”. Baseado no âmbito da Sociolingu

  20. Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic

    DEFF Research Database (Denmark)

    Ahlborn, Lise B; Dandanell, Mette; Steffensen, Ane Y

    2015-01-01

    needed to classify whether these uncertain variants are pathogenic or benign. In this study, we investigated 14 BRCA1 variants by in silico splicing analysis and mini-gene splicing assay. All 14 alterations were missense variants located within the BRCT domain of BRCA1 and had previously been examined...... by functional analysis at the protein level. Results from a validated mini-gene splicing assay indicated that nine BRCA1 variants resulted in splicing aberrations leading to truncated transcripts and thus can be considered pathogenic (c.4987A>T/p.Met1663Leu, c.4988T>A/p.Met1663Lys, c.5072C>T/p.Thr1691Ile, c...... to have no or an uncertain effect on the protein level, whereas one variant (c.5072C>T/p.Thr1691Ile) were shown to have a strong effect on the protein level as well. In conclusion, our study emphasizes that in silico splicing prediction and mini-gene splicing analysis are important for the classification...

  1. PODER DA VOZ EM MEDEIA

    Directory of Open Access Journals (Sweden)

    Tércia Montenegro Lemos

    2016-01-01

    Full Text Available Este artigo se debruça sobre a peça teatral Medeia, de Eurípides, vista em diálogo com algumas de suas retextualizações forjadas ao longo dos tempos, incluindo-se em nosso corpus de análise a obra Medée, do dramaturgo francês Jean Anouilh, e Gota d’água, peça brasileira criada por Chico Buarque e Paulo Pontes. Partindo do trabalho de Romilly (1975, buscamos demonstrar como tragédia e retórica são interdependentes na composição das citadas obras, sobretudo pela carga dramática das falas das personagens. Para tanto, estabelecemos um diálogo entre a retórica antiga e o moderno conceito de etos, tal como a Análise do discurso de linha francesa o entende. A categoria do etos contribui de modo importante para estabelecer fronteiras entre as variantes literárias do mito e possibilita reflexões sobre os procedimentos de intertextualidade adotados. Após as análises, observamos como o investimento da enunciação se expõe através do poder da voz nas versões de Medeia, criando um poderoso efeito psicológico para compor o perfil da protagonista.Palavras-chave: Tragédia; Retórica; Análise do discurso.

  2. Poder da voz em MEDEIA

    Directory of Open Access Journals (Sweden)

    Tércia Montenegro Lemos

    2016-01-01

    Full Text Available Este artigo se debruça sobre a peça teatral Medeia, de Eurípides, vista em diálogo com algumas de suas retextualizações forjadas ao longo dos tempos, incluindo-se em nosso corpus de análise a obra Medée, do dramaturgo francês Jean Anouilh, e Gota d’água, peça brasileira criada por Chico Buarque e Paulo Pontes. Partindo do trabalho de Romilly (1975, buscamos demonstrar como tragédia e retórica são interdependentes na composição das citadas obras, sobretudo pela carga dramática das falas das personagens. Para tanto, estabelecemos um diálogo entre a retórica antiga e o moderno conceito de etos, tal como a Análise do discurso de linha francesa o entende. A categoria do etos contribui de modo importante para estabelecer fronteiras entre as variantes literárias do mito e possibilita reflexões sobre os procedimentos de intertextualidade adotados. Após as análises, observamos como o investimento da enunciação se expõe através do poder da voz nas versões de Medeia, criando um poderoso efeito psicológico para compor o perfil da protagonista.Palavras-chave: Tragédia; Retórica; Análise do discurso.

  3. Variantes de lesões intra-epiteliais escamosas: relato de quatro casos Variants of intraepithelial squamous lesions: report of four cases

    Directory of Open Access Journals (Sweden)

    Álvaro P. Pinto

    2005-04-01

    Full Text Available Entre a rotina de biópsias e produtos cirúrgicos provenientes do colo uterino, um número significativo de lesões intra-epiteliais escamosas (LIE pode causar dificuldade quanto a caracterização e graduação histológica. Tais lesões têm sido identificadas e descritas isoladamente por artigos científicos como variantes histológicas de LIE cervicais. São elas a metaplasia papilar imatura atípica (MPIA e as variantes de neoplasia intra-epitelial cervical graus II/III: queratinizante, com padrão metaplásico imaturo de crescimento e escamomucinosa. Neste artigo são exemplificados quatro casos representativos das entidades citadas acima, provenientes das rotinas do Programa de Prevenção do Câncer Ginecológico do Estado do Paraná e de um laboratório privado especializado em patologia ginecológica de Curitiba, o Laboratório de Citopatologia e Anatomia Patológica Annalab. Os principais critérios diagnósticos são descritos, assim como a correlação citológica e molecular relacionada à presença e à localização do ácido nucleico viral (papilomavírus humano [HPV] nas lesões.In routine basis, among biopsies and surgical specimens derived from uterine cervix, a significant number of squamous intraepithelial lesions (SIL may be difficult to diagnose and grade. Some of these lesions were identified, isolated and reported in scientific articles as histological variants of SIL. They are: metaplastic papillary immature atypia (MPIA and the following grade II/III cervical intraepithelial neoplasia variants: keratinized, immature metaplastic-like proliferation and mucin-producing. In this article four cases representative of these variants are described. They were retrieved from the routines of a large scale gynecological cancer screening program and a private laboratory specialized on gynecological pathology, both from Paraná State, Brazil. The main histological criteria for diagnosis are described, as well cytological and

  4. Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification

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    Bryony A. Thompson

    2015-03-01

    Full Text Available Inherited mutations in the DNA mismatch repair genes (MMR can cause MMR deficiency and increased susceptibility to colorectal and endometrial cancer. Microsatellite instability (MSI is the defining molecular signature of MMR deficiency. The clinical classification of identified MMR gene sequence variants has a direct impact on the management of patients and their families. For a significant proportion of cases sequence variants of uncertain clinical significance (also known as unclassified variants are identified, constituting a challenge for genetic counselling and clinical management of families. The effect on protein function of these variants is difficult to interpret. The presence or absence of MSI in tumours can aid in determining the pathogenicity of associated unclassified MMR gene variants. However, there are some considerations that need to be taken into account when using MSI for variant interpretation. The use of MSI and other tumour characteristics in MMR gene sequence variant classification will be explored in this review.

  5. Green Synthesis of Silver Nanoparticles through Reduction with <em>Solanum> <em>xanthocarpum> L. Berry Extract: Characterization, Antimicrobial and Urease Inhibitory Activities against <em>Helicobacter> <em>pylori>

    Directory of Open Access Journals (Sweden)

    Muhammad Awais Iqbal

    2012-08-01

    Full Text Available A green synthesis route for the production of silver nanoparticles using methanol extract from <em>Solanum> <em>xanthocarpum> berry (SXE is reported in the present investigation. Silver nanoparticles (AgNps, having a surface plasmon resonance (SPR band centered at 406 nm, were synthesized by reacting SXE (as capping as well as reducing agent with AgNO3 during a 25 min process at 45 °C. The synthesized AgNps were characterized using UV–Visible spectrophotometry, powdered X-ray diffraction, and transmission electron microscopy (TEM. The results showed that the time of reaction, temperature and volume ratio of SXE to AgNO3 could accelerate the reduction rate of Ag+ and affect the AgNps size and shape. The nanoparticles were found to be about 10 nm in size, mono-dispersed in nature, and spherical in shape. <em>In> <em>vitro> anti-<em>Helicobacter> <em>pylori> activity of synthesized AgNps was tested against 34 clinical isolates and two reference strains of <em>Helicobacter> <em>pylori> by the agar dilution method and compared with AgNO3 and four standard drugs, namely amoxicillin (AMX, clarithromycin (CLA, metronidazole (MNZ and tetracycline (TET, being used in anti-<em>H.> <em>pylori> therapy. Typical AgNps sample (S1 effectively inhibited the growth of <em>H.> <em>pylori>, indicating a stronger anti-<em>H.> <em>pylori> activity than that of AgNO3 or MNZ, being almost equally potent to TET and less potent than AMX and CLA. AgNps under study were found to be equally efficient against the antibiotic-resistant and antibiotic-susceptible strains of <em>H.> <em>pylori>. Besides, in the <em>H.> <em>pylori> urease inhibitory assay, S1 also exhibited a significant inhibition. Lineweaver-Burk plots revealed that the mechanism of inhibition was noncompetitive.

  6. Carcinoma verrucoso: uma variante clínico-histopatológica do carcinoma espinocelular Verrucous carcinoma: a clinical-histopathologic variant of squamous cell carcinoma

    Directory of Open Access Journals (Sweden)

    Maurício Zanini

    2004-10-01

    Full Text Available O carcinoma verrucoso é uma rara e indolente forma do carcinoma espinocelular descrita por Ackerman em 1948. Sua localização preferencial é a cavidade oral. Clinicamente manifesta-se como lesão verrucosa, de progressivo e lento crescimento e bom prognóstico. O tratamento de escolha é a exérese cirúrgica, devendo o paciente ser regularmente acompanhado devido ao risco de recorrências.Verrucous carcinoma is a rare and indolent variant of the squamous cell carcinoma described by Ackerman in 1948. The oral cavity is a most common site. Clinically, it presents most often as a slow-growing verrucous lesion. The prognosis is good. Treatment of choice is surgery. Patients require frequent reevaluation because recurrences may occur.

  7. Avaliação da Velocidade Média na Aorta Torácica Descendente em Fetos com Anemia

    Directory of Open Access Journals (Sweden)

    Taveira Marcos Roberto

    2001-01-01

    Full Text Available Objetivo: verificar se existe correlação significativa entre a velocidade média na dopplerfluxometria da artéria aorta torácica descendente e o grau de anemia fetal. Métodos: estudo prospectivo, transversal, no qual foram analisados 66 fetos de gestantes isoimunizadas, em que se realizou a cordocentese para a realização de transfusões intra-uterinas pela via intravascular (66,7%. Nos fetos que foram submetidos à transfusão intra-uterina pela via intraperitoneal, ou naqueles casos em que não houve necessidade de tratamento intra-uterino (33,3%, a determinação da concentração de hemoglobina do cordão foi realizada pela punção do cordão umbilical, no momento da interrupção da gestação. Neste grupo de fetos estudados, foi realizado exame dopplerfluxométrico da artéria aorta torácica descendente, sendo calculada a velocidade média de fluxo. Foi realizado estudo de associação entre as variáveis. Foram também calculados os valores de sensibilidade, especificidade, valores preditivos positivo e negativo. Resultados: observou-se correlação significativa e inversa entre a velocidade média na artéria aorta torácica descendente e o nível de hemoglobina fetal. A velocidade média na dopplerfluxometria da artéria aorta torácica descendente apresentou sensibilidade de 47,5% para anemia fetal moderada (Hg<10 g/dL, com o teste exato de Fisher apresentando valor de p<0,01, e de 54,5% para anemia fetal grave (Hg<7,0 g/dL, com um valor de p=0,01. Conclusões: houve associação significativa entre a velocidade média na aorta torácica descendente e o grau de diagnóstico de anemia fetal.

  8. Melanoma risk associated with MC1R gene variants in Latvia and the functional analysis of rare variants.

    Science.gov (United States)

    Ozola, Aija; Azarjana, Kristīne; Doniņa, Simona; Proboka, Guna; Mandrika, Ilona; Petrovska, Ramona; Cēma, Ingrīda; Heisele, Olita; Eņģele, Ludmila; Streinerte, Baiba; Pjanova, Dace

    2013-03-01

    To evaluate the association of melanocortin 1 receptor gene (MC1R) variants with melanoma risk in a Latvian population, the MC1R gene was sequenced in 200 melanoma patients and 200 control persons. A functional study of previously uncharacterized, rare MC1R variants was also performed. In total, 26 different MC1R variants, including two novel variants Val165Ile and Val188Ile, were detected. The highest risk of melanoma was associated with the Arg151Cys variant (odds ratio (OR) 4.47, 95% confidence interval (CI) 2.19-9.14, PMC1R variants revealed that a subset of them is functionally relevant. Our results support the contribution of MC1R variants to a genetic predisposition to melanoma in Latvia. Copyright © 2013 Elsevier Inc. All rights reserved.

  9. Efeitos fetais e maternos do propofol, etomidato, tiopental e anestesia epidural, em cesariana eletivas de cadelas

    Directory of Open Access Journals (Sweden)

    Lavor Mário Sérgio Lima de

    2004-01-01

    Full Text Available O objetivo deste trabalho foi comparar os efeitos entre os fármacos indutores de anestesia como propofol, etomidato e tiopental, e a anestesia epidural com lidocaína seguida de indução, em cadelas submetidas à cesariana, e seus neonatos. Para tanto, foram utilizadas 20 cadelas e 129 filhotes distribuídos em quatro grupos. No grupo 1 (5 cadelas e 39 neonatos, a indução anestésica foi feita com propofol; no grupo 2 (5 cadelas e 25 neonatos, com etomidato; no grupo 3 (5 cadelas e 26 neonatos com tiopental e no grupo 4, (5 cadelas e 39 neonatos utilizou-se anestesia epidural e indução com halotano através de máscara. Em todos os casos, a medicação pré-anestésica foi feita com midazolam na dose de 0,22mg kg-1 via IM, e a manutenção anestésica com halotano em circuito semifechado e concentração inicial de 3V%. As variáveis avaliadas nas cadelas foram: temperatura retal, freqüência cardíaca, freqüência respiratória, saturação da oxi-hemoglobina (SpO2, pressão arterial média. Para a avaliação dos recém-nascidos, foram mensurados: freqüência cardíaca, esforço respiratório, movimentos musculares, coloração das mucosas e irritabilidade reflexa interpretados através do escore de Apgar modificado, bem como a SpO2 do neonato. Os resultados mostraram que todos os protocolos foram adequados para as mães com mínimos efeitos sistêmicos. Para o neonato, a utilização de anestesia epidural na mãe, seguida de indução e manutenção com halotano foi superior aos protocolos que usaram agentes injetáveis na indução anestésica.

  10. Protein chainmail variants in dsDNA viruses

    Directory of Open Access Journals (Sweden)

    Z. Hong Zhou

    2015-06-01

    Full Text Available First discovered in bacteriophage HK97, biological chainmail is a highly stable system formed by concatenated protein rings. Each subunit of the ring contains the HK97-like fold, which is characterized by its submarine-like shape with a 5-stranded β sheet in the axial (A domain, spine helix in the peripheral (P domain, and an extended (E loop. HK97 capsid consists of covalently-linked copies of just one HK97-like fold protein and represents the most effective strategy to form highly stable chainmail needed for dsDNA genome encapsidation. Recently, near-atomic resolution structures enabled by cryo electron microscopy (cryoEM have revealed a range of other, more complex variants of this strategy for constructing dsDNA viruses. The first strategy, exemplified by P22-like phages, is the attachment of an insertional (I domain to the core 5-stranded β sheet of the HK97-like fold. The atomic models of the Bordetella phage BPP-1 showcases an alternative topology of the classic HK97 topology of the HK97-like fold, as well as the second strategy for constructing stable capsids, where an auxiliary jellyroll protein dimer serves to cement the non-covalent chainmail formed by capsid protein subunits. The third strategy, found in lambda-like phages, uses auxiliary protein trimers to stabilize the underlying non-covalent chainmail near the 3-fold axis. Herpesviruses represent highly complex viruses that use a combination of these strategies, resulting in four-level hierarchical organization including a non-covalent chainmail formed by the HK97-like fold domain found in the floor region. A thorough understanding of these structures should help unlock the enigma of the emergence and evolution of dsDNA viruses and inform bioengineering efforts based on these viruses.

  11. Research progress of behavioral variant frontotemporal dementia

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    Xiao-hua GU

    2015-07-01

    Full Text Available There is no epidemiological data of frontotemporal dementia (FTD in China. The application of updated diagnostic criteria, publishing of frontotemporal lobar degeneration (FTLD consensus in China, development of multimodal imaging and biomarkers promote the clinical understanding on behavioral variant frontotemporal dementia (bvFTD. There is still no drugs treating FTD approved by U.S. Food and Drug Administration (FDA. Multidisciplinary intervention may delay the progression of bvFTD. DOI: 10.3969/j.issn.1672-6731.2015.07.006

  12. Space-variant polarized Airy beam

    CERN Document Server

    Chen, Hao

    2015-01-01

    We experimentally generate an Airy beam with polarization structure while keeping its original amplitude and phase profile intact. This class of Airy beam preserves the acceleration properties. By monitoring their initial polarization structure we have provided insight concerning the self-healing mechanism of Airy beams. We investigate both theoretically and experimentally the self-healing polarization properties of the space-variant polarized Airy beams. Amplitude as well as the polarization structure tends to reform during propagation in spite of the severe truncation of the beam by finite apertures.

  13. Sex steroids and variants of gender identity.

    Science.gov (United States)

    Meyer-Bahlburg, Heino F L

    2013-09-01

    This article summarizes for the practicing endocrinologist the current literature on the psychobiology of the development of gender identity and its variants in individuals with disorders of sex development (DSD) or with non-DSD transgenderism. Gender reassignment remains the treatment of choice for strong and persistent gender dysphoria in both categories, but more research is needed on the short-term and long-term effects of puberty-suppressing medications and cross-sex hormones on brain and behavior. Copyright © 2013 Elsevier Inc. All rights reserved.

  14. Multisystem altruistic metadynamics—Well-tempered variant

    Science.gov (United States)

    Hošek, Petr; Kříž, Pavel; Toulcová, Daniela; Spiwok, Vojtěch

    2017-03-01

    Metadynamics method has been widely used to enhance sampling in molecular simulations. Its original form suffers two major drawbacks, poor convergence in complex (especially biomolecular) systems and its serial nature. The first drawback has been addressed by introduction of a convergent variant known as well-tempered metadynamics. The second was addressed by introduction of a parallel multisystem metadynamics referred to as altruistic metadynamics. Here, we combine both approaches into well-tempered altruistic metadynamics. We provide mathematical arguments and trial simulations to show that it accurately predicts free energy surfaces.

  15. Multisystem altruistic metadynamics-Well-tempered variant.

    Science.gov (United States)

    Hošek, Petr; Kříž, Pavel; Toulcová, Daniela; Spiwok, Vojtěch

    2017-03-28

    Metadynamics method has been widely used to enhance sampling in molecular simulations. Its original form suffers two major drawbacks, poor convergence in complex (especially biomolecular) systems and its serial nature. The first drawback has been addressed by introduction of a convergent variant known as well-tempered metadynamics. The second was addressed by introduction of a parallel multisystem metadynamics referred to as altruistic metadynamics. Here, we combine both approaches into well-tempered altruistic metadynamics. We provide mathematical arguments and trial simulations to show that it accurately predicts free energy surfaces.

  16. Genetic variants associated with lung function

    DEFF Research Database (Denmark)

    Thyagarajan, Bharat; Wojczynski, Mary; Minster, Ryan L

    2014-01-01

    BACKGROUND: Reduced forced expiratory volume in 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) are strong predictors of mortality and lung function is higher among individuals with exceptional longevity. However, genetic factors associated with lung function in individuals...... with exceptional longevity have not been identified. METHOD: We conducted a genome wide association study (GWAS) to identify novel genetic variants associated with lung function in the Long Life Family Study (LLFS) (n = 3,899). Replication was performed using data from the CHARGE/SpiroMeta consortia...

  17. Performance comparison of various time variant filters

    Energy Technology Data Exchange (ETDEWEB)

    Kuwata, M. [JEOL Engineering Co. Ltd., Akishima, Tokyo (Japan); Husimi, K.

    1996-07-01

    This paper describes the advantage of the trapezoidal filter used in semiconductor detector system comparing with the other time variant filters. The trapezoidal filter is the compose of a rectangular pre-filter and a gated integrator. We indicate that the best performance is obtained by the differential-integral summing type rectangular pre-filter. This filter is not only superior in performance, but also has the useful feature that the rising edge of the output waveform is linear. We introduce an example of this feature used in a high-energy experiment. (author)

  18. Oral fibrolipoma: A rare histological variant

    Directory of Open Access Journals (Sweden)

    Treville Pereira

    2014-01-01

    Full Text Available Lipomas are benign soft tissue mesenchymal neoplasms. Fibrolipoma is a histological variant of lipoma that mostly affects the buccal mucosa and causes functional and cosmetic disabilities. The diagnosis and differentiation of fibrolipoma with clinically similar lesions such as fibroma and pleomorphic adenoma is very essential for a correct treatment plan and complete follow-up. This article presents a case of a 35-year-old female with a fibrolipoma on the lingual marginal gingiva of the mandibular left third molar.

  19. Manifestações clínicas, radiológicas e laboratoriais em indivíduos com tuberculose pulmonar: estudo comparativo entre indivíduos HIV positivos e HIV negativos internados em um hospital de referência Clinical, radiological, and laboratory characteristics in pulmonary tuberculosis patients: comparative study of HIV-positive and HIV-negative inpatients at a referral hospital

    Directory of Open Access Journals (Sweden)

    Aline Besen

    2011-12-01

    Full Text Available OBJETIVO: Comparar as manifestações clínicas, radiológicas e laboratoriais de indivíduos com tuberculose pulmonar coinfectados com HIV com aqueles sem a coinfecção. MÉTODOS: Estudo transversal, no qual sinais e sintomas foram analisados por meio de anamnese e exame físico em pacientes internados com tuberculose pulmonar. A baciloscopia, a cultura para Mycobacterium tuberculosis, a dosagem de hemoglobina e a contagem de células T CD4+ foram obtidas de registros dos prontuários, assim como os laudos das radiografias de tórax. RESULTADOS: Foram incluídos 50 pacientes com tuberculose pulmonar, que foram divididos em dois grupos (HIV positivo e HIV negativo; n = 25 por grupo. A média de idade dos participantes foi de 38,4 ± 10,5 anos, 46 (92% eram do sexo masculino, e 27 (54% eram caucasianos. Apresentaram expectoração 21 (84% e 13 (52% dos pacientes nos grupos HIV negativo e HIV positivo, respectivamente (p = 0,016. Achados radiológicos de cavitação estavam presentes em 10 (43% e 2 (10% dos pacientes nos grupos HIV negativo e HIV positivo, respectivamente (p = 0,016, ao passo que padrão intersticial estava presente em 18 (78% e 8 (40% dos pacientes nesses grupos (p = 0,012. O nível médio de hemoglobina foi de 11,1 ± 2,9 g/dL e 9,3 ± 2,2 g/dL nos grupos HIV negativo e HIV positivo, respectivamente (p = 0,015. CONCLUSÕES: Entre pacientes coinfectados com tuberculose e HIV desta amostra, houve menor prevalência de expectoração, foram menos frequentes os achados radiológicos de cavitação e de padrão intersticial, e os níveis de hemoglobina foram mais baixos do que naqueles sem essa coinfecção.OBJECTIVE: To compare clinical, radiological, and laboratory characteristics of individuals with pulmonary tuberculosis co-infected or not with HIV. METHODS: A cross-sectional study, in which signs and symptoms were assessed by anamnesis and physical examination in patients hospitalized with pulmonary tuberculosis. The results of

  20. Terapêutica com doses profiláticas de sulfato ferroso como medida de intervenção no combate à carência de ferro em crianças atendidas em unidades básicas de saúde Treatment with prophylactic doses of ferrous sulphate in the fight against iron deficiency in children attended in basis health units

    Directory of Open Access Journals (Sweden)

    Marco A. A. Torres

    1994-12-01

    Full Text Available Objetivou-se testar a terapêutica com doses profiláticas de sulfato ferroso no combate à anemia carencial ferropriva, em 620 crianças de 4 a 36 meses de idade, atendidas em duas unidades de saúde do Município de São Paulo, Brasil. As crianças foram submetidas a coleta de sangue para dosagem de hemoglobina. Em seguida, foi prescrito dosagem de 12 mg/dia de ferro elementar, por 30 dias. Observou-se que 25% dos menores de 6 meses apresentaram níveis de hemoglobina inferiores a 11,0 g/dl. As maiores ocorrências de anemia foram detectadas entre os 9 e 23 meses de idade (50,0%. Decorrido o prazo, apenas 37,4% das crianças com anemia e 52,4% das não anêmicas retornaram para reavaliação. Das 299 que foram reavaliadas, somente 157 (52,5% receberam a medicação corretamente. A freqüência de hemoglobinas inferiores a 9,5 g/dl caiu de 17,1% no início, para 8,1% ao final da intervenção. Por outro lado, o percentual de crianças com hemoglobinas superiores a 12,0 g/dl subiu de 13,4%, para 33,4%. As que receberam a suplementação férrica de forma correta registraram queda nos índices de anemia sensivelmente maior que a observada naquelas suplementadas de forma incorreta. Concluiu-se que a terapêutica com doses profiláticas de sulfato ferroso, apesar de se mostrar eficiente na recuperação dos níveis de hemoglobina, apresenta sérios entraves do ponto de vista operacional.The efficacy of medical prophylaxis in the fight against iron deficiency anemia in 620 children aged from four to thirty-six months, attended in two health units of the municipality of S. Paulo, Brazil, was tested. First, the children's blood was tested for hemoglobin level and eletrophoresis. Then they received daily doses of iron sulphate in the form of drops, corresponding to 12 mg/ day of elementary iron, over a 30-day period. Afterwaeds, they were asked to return for re-evaluation. Twenty-five percent of children under 6 months presented hemoglobin levels under

  1. Association between MTHFR variant and diabetic neuropathy.

    Science.gov (United States)

    Kakavand Hamidi, Armita; Radfar, Mania; Amoli, Mahsa M

    2017-04-26

    Methylene-tetrahydrofolate reductase (MTHFR) gene variant may play an important role in the pathophysiology of diabetes and its complications due to its influence on plasma homocysteine levels and also its effect on scavenging peroxynitrite radicals. Diabetic peripheral neuropathy (DPN) is one of the most common diabetic chronic complications. The aim of this study was to investigate the relationship between diabetic neuropathy and MTHFR gene C677T and 1298A ⁄C polymorphisms. Patients with type 2 diabetes N=248 were enrolled in the study, consisting of patients with neuropathy (N=141) and patients without neuropathy (N=107). MTHFR C677T polymorphism was analyzed using polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP) of genomic DNA for genotyping of samples. 1298A/C polymorphism was evaluated using ARMS-PCR. There was a significant difference in MTHFR polymorphism between the groups with and without neuropathy. Our results suggest that MTHFR 677 variant confer risk for diabetic neuropathy among Iranian patients with type 2 diabetes. Copyright © 2017 Institute of Pharmacology, Polish Academy of Sciences. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  2. A TIMP-1 splice variant transcript

    DEFF Research Database (Denmark)

    Øbro, Nina Friesgård; Lademann, Ulrik Axel; Birkenkamp-Demtroder, Karin

    2008-01-01

    A splice variant of tissue inhibitor of metalloproteinases-1 (TIMP-1) mRNA lacking exon 2 (TIMP-1-v2) has been identified in human cancer cells and in colorectal and breast cancer tumors. The purpose of this study was (1) to study the level of full length TIMP-1 and TIMP-1-v2 transcripts in color...... of TIMP-1 pre-mRNA to TIMP-1-v2 mRNA might be involved in regulating TIMP-1 expression.......A splice variant of tissue inhibitor of metalloproteinases-1 (TIMP-1) mRNA lacking exon 2 (TIMP-1-v2) has been identified in human cancer cells and in colorectal and breast cancer tumors. The purpose of this study was (1) to study the level of full length TIMP-1 and TIMP-1-v2 transcripts...... in colorectal tumors; (2) to investigate if TIMP-1-v2 is translated to protein. Full length TIMP-1 and TIMP-1-v2 mRNA levels were compared between colorectal tumors and normal mucosa by Q-PCR. Both full length TIMP-1 and TIMP-1-v2 transcripts were upregulated in tumor tissue. However, the level of TIMP-1-v2...

  3. COMT gene locus: new functional variants

    Science.gov (United States)

    Meloto, Carolina B.; Segall, Samantha K.; Smith, Shad; Parisien, Marc; Shabalina, Svetlana A.; Rizzatti-Barbosa, Célia M.; Gauthier, Josée; Tsao, Douglas; Convertino, Marino; Piltonen, Marjo H.; Slade, Gary Dmitri; Fillingim, Roger B.; Greenspan, Joel D.; Ohrbach, Richard; Knott, Charles; Maixner, William; Zaykin, Dmitri; Dokholyan, Nikolay V.; Reenilä, Ilkka; Männistö, Pekka T.; Diatchenko, Luda

    2015-01-01

    Abstract Catechol-O-methyltransferase (COMT) metabolizes catecholaminergic neurotransmitters. Numerous studies have linked COMT to pivotal brain functions such as mood, cognition, response to stress, and pain. Both nociception and risk of clinical pain have been associated with COMT genetic variants, and this association was shown to be mediated through adrenergic pathways. Here, we show that association studies between COMT polymorphic markers and pain phenotypes in 2 independent cohorts identified a functional marker, rs165774, situated in the 3′ untranslated region of a newfound splice variant, (a)-COMT. Sequence comparisons showed that the (a)-COMT transcript is highly conserved in primates, and deep sequencing data demonstrated that (a)-COMT is expressed across several human tissues, including the brain. In silico analyses showed that the (a)-COMT enzyme features a distinct C-terminus structure, capable of stabilizing substrates in its active site. In vitro experiments demonstrated not only that (a)-COMT is catalytically active but also that it displays unique substrate specificity, exhibiting enzymatic activity with dopamine but not epinephrine. They also established that the pain-protective A allele of rs165774 coincides with lower COMT activity, suggesting contribution to decreased pain sensitivity through increased dopaminergic rather than decreased adrenergic tone, characteristic of reference isoforms. Our results provide evidence for an essential role of the (a)-COMT isoform in nociceptive signaling and suggest that genetic variations in (a)-COMT isoforms may contribute to individual variability in pain phenotypes. PMID:26207649

  4. Anatomic variants in Dandy-Walker complex.

    Science.gov (United States)

    Jurcă, Maria Claudia; Kozma, Kinga; Petcheşi, CodruŢa Diana; Bembea, Marius; Pop, Ovidiu Laurean; MuŢiu, Gabriela; Coroi, Mihaela Cristiana; Jurcă, Alexandru Daniel; Dobjanschi, Luciana

    2017-01-01

    Dandy-Walker complex (DWC) is a malformative association of the central nervous system. DWC includes four different types: Dandy-Walker malformation (vermis agenesis or hypoplasia, cystic dilatation of the fourth ventricle and a large posterior fossa); Dandy-Walker variant (vermis hypoplasia, cystic dilatation of the fourth ventricle, normal posterior fossa); mega cysterna magna (large posterior fossa, normal vermis and fourth ventricle) and posterior fossa arachnoid cyst. We present and discuss four cases with different morphological and clinical forms of the Dandy-Walker complex. In all four cases, diagnosis was reached by incorporation of clinical (macrocephaly, seizures) and imaging [X-ray, computed tomography (CT), magnetic resonance imaging (MRI)] data. Two patients were diagnosed with Dandy-Walker complex, one patient was diagnosed with Dandy-Walker variant in a rare association with neurofibromatosis and one patient was diagnosed with a posterior fossa arachnoid cyst associated with left-sided Claude Bernard-Horner syndrome, congenital heart disease (coarctation of the aorta, mitral stenosis) and gastroesophageal reflux. In all forms of DWC, the clinical, radiological and functional manifestations are variable and require adequate diagnostic and therapeutic measures.

  5. Flavonoids as Inhibitors of Human Butyrylcholinesterase Variants

    Directory of Open Access Journals (Sweden)

    Maja Katalinić

    2014-01-01

    Full Text Available The inhibition of butyrylcholinesterase (BChE, EC 3.1.1.8 appears to be of interest in treating diseases with symptoms of reduced neurotransmitter levels, such as Alzheimer’s disease. However, BCHE gene polymorphism should not be neglected in research since it could have an effect on the expected outcome. Several well-known cholinergic drugs (e.g. galantamine, huperzine and rivastigmine originating from plants, or synthesised as derivatives of plant compounds, have shown that herbs could serve as a source of novel target-directed compounds. We focused our research on flavonoids, biologically active polyphenolic compounds found in many plants and plant-derived products, as BChE inhibitors. All of the tested flavonoids: galangin, quercetin, fisetin and luteolin reversibly inhibited usual, atypical, and fluoride-resistant variants of human BChE. The inhibition potency increased in the following order, identically for all three BChE variants: luteolin

  6. Responses to falling lll: defense mechanisms used by women with Turner syndrome and variants

    Directory of Open Access Journals (Sweden)

    Vera Lúcia Soares Chvatal

    2009-01-01

    Full Text Available BACKGROUND: Article extracted from the doctoral research entitled "Experiences of the infertility phenomenon by patients suffering from Turner syndrome and variants: a clinical-qualitative study" approved by the University of Campinas. OBJECTIVES: To understand the defenses employed by women suffering from TS and different ways of dealing with the disease. METHOD: Qualitative research with exploratory design, non-experimental. The instrument consisted of a semidirect psychological interview, involving 13 women, undergoing semestral medical follow-up at the Center for Integral Attention to Women's Health (CAISM, and whose sampling was determined by saturation. Data was interpreted using the psychodynamic approach along with an eclectic framework of theoretical references for discussion in the spirit of interdisciplinary approach. RESULTS:These women displayed psychosocial conflicts such as difficulties in interpersonal relationships; feelings of resignation, anger, impotence, devaluation and depression symptoms. Defenses used were: repression, denial, annulment, fantasizing, adaptation and sublimation. DISCUSSION: Women suffering from TS and variants must deal with the disease's organic and psychic implications that cause great suffering and often hinder a saner social insertion. In this case, the study's findings can guide ambulatory psychological support concomitantly to the routine clinical protocol.OBJETIVO:Conhecer as defesas utilizadas por mulheres com síndrome de Turner (ST ou formas variantes para lidar com a doença. MÉTODO: Pesquisa qualitativa com desenho exploratório, não experimental. O instrumento consistiu em entrevista psicológica semidirigida, aplicada em 13 mulheres, cuja amostragem deu-se por saturação, as quais fazem acompanhamento semestral no Centro de Atendimento Integral à Saúde da Mulher. Os dados foram interpretados utilizando-se da abordagem psicodinâmica, aliada a um quadro eclético de referenciais te

  7. Emergency Medical Service (EMS) Stations

    Data.gov (United States)

    Kansas Data Access and Support Center — EMS Locations in Kansas The EMS stations dataset consists of any location where emergency medical services (EMS) personnel are stationed or based out of, or where...

  8. Detection of antibodies to variant antigens on <em>Plasmodium falciparumem>-infected erythrocytes by flow cytometry

    DEFF Research Database (Denmark)

    Staalsoe, T; Giha, H A; Dodoo, D

    1999-01-01

    BACKGROUND: Naturally induced antibodies binding to surface antigens of Plasmodium falciparum-infected erythrocytes can be detected by direct agglutination of infected erythrocytes or by indirect immunofluorescence on intact, unfixed, infected erythrocytes. Agglutinating antibodies have previously...

  9. Chicken Mannose-binding lectin (<em>MBL>) gene variants with influence on MBL serum concentration

    DEFF Research Database (Denmark)

    Kjærup, Rikke Munkholm; Norup, Liselotte Rothmann; Skjødt, Karsten

    2013-01-01

    Mannose-binding lectin (MBL) plays a major role in the innate immune defence by activating the lectin complement pathway or by acting as an opsonin. Two forms of MBL have been characterised from several species, but for humans and chickens, only one form of functional MBL has been described...

  10. BBCAnalyzer: a visual approach to facilitate variant calling

    OpenAIRE

    Sandmann, S.; Graaf, A.O. de; Dugas, M.

    2017-01-01

    Background Deriving valid variant calling results from raw next-generation sequencing data is a particularly challenging task, especially with respect to clinical diagnostics and personalized medicine. However, when using classic variant calling software, the user usually obtains nothing more than a list of variants that pass the corresponding caller?s internal filters. Any expected mutations (e.g. hotspot mutations), that have not been called by the software, need to be investigated manually...

  11. Copy number variants in patients with short stature

    OpenAIRE

    van Duyvenvoorde, Hermine A.; Lui, Julian C.; Kant, Sarina G; Oostdijk, Wilma; Gijsbers, Antoinet CJ; Hoffer, Mariëtte JV; Karperien, Marcel; Walenkamp, Marie JE; Noordam, Cees; Voorhoeve, Paul G; Mericq, Verónica; Alberto M. Pereira; Claahsen-van der Grinten, Hedi L.; van Gool, Sandy A; Breuning, Martijn H

    2013-01-01

    Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about 10% of the phenotypic variation in height. Genetic analysis of short individuals can lead to the discovery of novel rare gene defects with a large effect on growth. In an effort to identify novel genes associated with short stature, genome-wide analysis for copy number variant...

  12. Estudo do sono e função pulmonar em pacientes obesos mórbidos

    Directory of Open Access Journals (Sweden)

    Isabella de Carvalho Aguiar

    Full Text Available INTRODUÇÃO: A obesidade acarreta uma série de alterações na fisiologia respiratória e no sono. Seu tratamento tem como objetivo a melhora da saúde e da qualidade de vida. OBJETIVO: Avaliar a função pulmonar e o sono em indivíduos obesos mórbidos pré-cirurgia bariátrica. MATERIAIS E MÉTODOS: Participaram deste estudo 38 pacientes, recrutados em dois serviços de cirurgia bariátrica e encaminhados ao Laboratório de Sono da Universidade Nove de Julho, São Paulo, Brasil. Os critérios de inclusão foram: obesos mórbidos, IMC entre 40 kg/m² e 50 kg/m² e IMC entre 35 kg/m² a 39,9 kg/m² se associados a comorbidades. RESULTADOS: A média de idade foi de 42 ± 10, o índice de massa corpórea médio foi de 50,09 ± 7,64. A média da circunferência abdominal foi de 132,48 ±11,07 e 134,31 ± 16,26 e de pescoço foi 42,34 ± 2,08 e 44,48 ± 3,67, respectivamente para mulheres e homens. As pressões máximas inspiratórias foram 57,57 ± 18,93 e 60,6 ± 3,72 e máximas expiratórias 56,63 ± 16,68 e 60 ± 18,52, para mulheres e homens respectivamente. O sono do movimento rápido dos olhos apresentou-se com média de 16,93 ± 13,61 e a saturação mínima da oxi-hemoglobina foi de 79,33 ± 10,26 durante o sono. Em 44,74% dos casos examinados, foram observadas alterações na Escala de Sonolência de Epworth (ESE; e em 76,3% ficou confirmada a presença de síndrome da apneia obstrutiva do sono (SAOS. CONCLUSÃO: Foram observadas alterações nas pressões máximas ventilatórias, na estrutura do sono associadas a considerável dessaturação noturna da oxi-hemoglobina, o que evidencia alta prevalência de SAOS nos pacientes obesos mórbidos.

  13. Manifestações retinianas em pacientes portadores de anemia de células falciformes

    Directory of Open Access Journals (Sweden)

    Edmundo Frota de Almeida Sobrinho

    2011-10-01

    hemoglobina fetal acima de 10% possuíam retina sem alterações. CONCLUSÃO: Poucos casos de lesões retinianas foram observados no grupo estudado, ainda assim esta pesquisa reafirma a importância da realização do exame oftalmológico de maneira precoce e periódica, visto que, a retinopatia falciforme é fato bem documentado e suas complicações podem resultar em amaurose.

  14. A unified phylogeny-based nomenclature for histone variants.

    Science.gov (United States)

    Talbert, Paul B; Ahmad, Kami; Almouzni, Geneviève; Ausió, Juan; Berger, Frederic; Bhalla, Prem L; Bonner, William M; Cande, W Zacheus; Chadwick, Brian P; Chan, Simon W L; Cross, George A M; Cui, Liwang; Dimitrov, Stefan I; Doenecke, Detlef; Eirin-López, José M; Gorovsky, Martin A; Hake, Sandra B; Hamkalo, Barbara A; Holec, Sarah; Jacobsen, Steven E; Kamieniarz, Kinga; Khochbin, Saadi; Ladurner, Andreas G; Landsman, David; Latham, John A; Loppin, Benjamin; Malik, Harmit S; Marzluff, William F; Pehrson, John R; Postberg, Jan; Schneider, Robert; Singh, Mohan B; Smith, M Mitchell; Thompson, Eric; Torres-Padilla, Maria-Elena; Tremethick, David John; Turner, Bryan M; Waterborg, Jakob Harm; Wollmann, Heike; Yelagandula, Ramesh; Zhu, Bing; Henikoff, Steven

    2012-06-21

    Histone variants are non-allelic protein isoforms that play key roles in diversifying chromatin structure. The known number of such variants has greatly increased in recent years, but the lack of naming conventions for them has led to a variety of naming styles, multiple synonyms and misleading homographs that obscure variant relationships and complicate database searches. We propose here a unified nomenclature for variants of all five classes of histones that uses consistent but flexible naming conventions to produce names that are informative and readily searchable. The nomenclature builds on historical usage and incorporates phylogenetic relationships, which are strong predictors of structure and function. A key feature is the consistent use of punctuation to represent phylogenetic divergence, making explicit the relationships among variant subtypes that have previously been implicit or unclear. We recommend that by default new histone variants be named with organism-specific paralog-number suffixes that lack phylogenetic implication, while letter suffixes be reserved for structurally distinct clades of variants. For clarity and searchability, we encourage the use of descriptors that are separate from the phylogeny-based variant name to indicate developmental and other properties of variants that may be independent of structure.

  15. A unified phylogeny-based nomenclature for histone variants

    Directory of Open Access Journals (Sweden)

    Talbert Paul B

    2012-06-01

    Full Text Available Abstract Histone variants are non-allelic protein isoforms that play key roles in diversifying chromatin structure. The known number of such variants has greatly increased in recent years, but the lack of naming conventions for them has led to a variety of naming styles, multiple synonyms and misleading homographs that obscure variant relationships and complicate database searches. We propose here a unified nomenclature for variants of all five classes of histones that uses consistent but flexible naming conventions to produce names that are informative and readily searchable. The nomenclature builds on historical usage and incorporates phylogenetic relationships, which are strong predictors of structure and function. A key feature is the consistent use of punctuation to represent phylogenetic divergence, making explicit the relationships among variant subtypes that have previously been implicit or unclear. We recommend that by default new histone variants be named with organism-specific paralog-number suffixes that lack phylogenetic implication, while letter suffixes be reserved for structurally distinct clades of variants. For clarity and searchability, we encourage the use of descriptors that are separate from the phylogeny-based variant name to indicate developmental and other properties of variants that may be independent of structure.

  16. Population structure analysis using rare and common functional variants

    Directory of Open Access Journals (Sweden)

    Ding Lili

    2011-11-01

    Full Text Available Abstract Next-generation sequencing technologies now make it possible to genotype and measure hundreds of thousands of rare genetic variations in individuals across the genome. Characterization of high-density genetic variation facilitates control of population genetic structure on a finer scale before large-scale genotyping in disease genetics studies. Population structure is a well-known, prevalent, and important factor in common variant genetic studies, but its relevance in rare variants is unclear. We perform an extensive population structure analysis using common and rare functional variants from the Genetic Analysis Workshop 17 mini-exome sequence. The analysis based on common functional variants required 388 principal components to account for 90% of the variation in population structure. However, an analysis based on rare variants required 532 significant principal components to account for similar levels of variation. Using rare variants, we detected fine-scale substructure beyond the population structure identified using common functional variants. Our results show that the level of population structure embedded in rare variant data is different from the level embedded in common variant data and that correcting for population structure is only as good as the level one wishes to correct.

  17. A rabies virus vampire bat variant shows increased neuroinvasiveness in mice when compared to a carnivore variant.

    Science.gov (United States)

    Mesquita, Leonardo Pereira; Gamon, Thais Helena Martins; Cuevas, Silvia Elena Campusano; Asano, Karen Miyuki; Fahl, Willian de Oliveira; Iamamoto, Keila; Scheffer, Karin Correa; Achkar, Samira Maria; Zanatto, Dennis Albert; Mori, Cláudia Madalena Cabrera; Maiorka, Paulo César; Mori, Enio

    2017-12-01

    Rabies is one of the most important zoonotic diseases and is caused by several rabies virus (RABV) variants. These variants can exhibit differences in neurovirulence, and few studies have attempted to evaluate the neuroinvasiveness of variants derived from vampire bats and wild carnivores. The aim of this study was to evaluate the neuropathogenesis of infection with two Brazilian RABV street variants (variant 3 and crab-eating fox) in mice. BALB/c mice were inoculated with RABV through the footpad, with the 50% mouse lethal dose (LD50) determined by intracranial inoculation. The morbidity of rabies in mice infected with variant 3 and the crab-eating fox strain was 100% and 50%, respectively, with an incubation period of 7 and 6 days post-inoculation (dpi), respectively. The clinical disease in mice was similar with both strains, and it was characterized initially by weight loss, ruffled fur, hunched posture, and hind limb paralysis progressing to quadriplegia and recumbency at 9 to 12 dpi. Histological lesions within the central nervous system (CNS) characterized by nonsuppurative encephalomyelitis with neuronal degeneration and necrosis were observed in mice infected with variant 3 and those infected with the crab-eating fox variant. However, lesions and the presence of RABV antigen, were more widespread within the CNS of variant-3-infected mice, whereas in crab-eating fox-variant-infected mice, RABV antigens were more restricted to caudal areas of the CNS, such as the spinal cord and brainstem. In conclusion, the results shown here demonstrate that the RABV vampire bat strain (variant 3) has a higher potential for neuroinvasiveness than the carnivore variant.

  18. <em>Angiostrongylus vasorumem> in red foxes (<em>Vulpes vulpesem> and badgers (<em>Meles melesem> from Central and Northern Italy

    Directory of Open Access Journals (Sweden)

    Marta Magi

    2010-06-01

    Full Text Available Abstract During 2004-2005 and 2007-2008, 189 foxes (<em>Vulpes vulpesem> and 6 badgers (<em>Meles melesem> were collected in different areas of Central Northern Italy (Piedmont, Liguria and Tuscany and examined for <em>Angiostrongylus vasorumem> infection. The prevalence of the infection was significantly different in the areas considered, with the highest values in the district of Imperia (80%, Liguria and in Montezemolo (70%, southern Piedmont; the prevalence in Tuscany was 7%. One badger collected in the area of Imperia turned out to be infected, representing the first report of the parasite in this species in Italy. Further studies are needed to evaluate the role played by fox populations as reservoirs of infection and the probability of its spreading to domestic dogs.
    Riassunto <em>Angiostrongylus vasorumem> nella volpe (<em>Vulpes vulpesem> e nel tasso (<em>Meles melesem> in Italia centro-settentrionale. Nel 2004-2005 e 2007-2008, 189 volpi (<em>Vulpes vulpesem> e 6 tassi (<em>Meles melesem> provenienti da differenti aree dell'Italia settentrionale e centrale (Piemonte, Liguria Toscana, sono stati esaminati per la ricerca di <em>Angiostrongylus vasorumem>. La prevalenza del nematode è risultata significativamente diversa nelle varie zone, con valori elevati nelle zone di Imperia (80% e di Montezemolo (70%, provincia di Cuneo; la prevalenza in Toscana è risultata del 7%. Un tasso proveniente dall'area di Imperia è risultato positivo per A. vasorum; questa è la prima segnalazione del parassita in tale specie in Italia. Ulteriori studi sono necessari per valutare il potenziale della volpe come serbatoio e la possibilità di diffusione della parassitosi ai cani domestici.

    doi:10.4404/hystrix-20.2-4442

  19. Is EM dead?

    Science.gov (United States)

    Knott, Graham; Genoud, Christel

    2013-10-15

    Since electron microscopy (EM) first appeared in the 1930s, it has held centre stage as the primary tool for the exploration of biological structure. Yet, with the recent developments of light microscopy techniques that overcome the limitations imposed by the diffraction boundary, the question arises as to whether the importance of EM in on the wane. This Commentary describes some of the pioneering studies that have shaped our understanding of cell structure. These include the development of cryo-EM techniques that have given researchers the ability to capture images of native structures and at the molecular level. It also describes how a number of recent developments significantly increase the ability of EM to visualise biological systems across a range of length scales, and in 3D, ensuring that EM will remain at the forefront of biology research for the foreseeable future.

  20. Experimental bovine schistosomiasis in zebu calves Esquistossomose bovina experimental em bezerros zebuínos

    Directory of Open Access Journals (Sweden)

    Imadeldin Elamin Aradaib

    1995-01-01

    Full Text Available Five calves were each experimentally infected with 30,000 cercariae of Schistosoma bovis and three calves were kept as controls. S. bovis eggs first appeared in feces of the infected animals by week 5 post infection and all animals were shedding by week 6 post infection. Between week 7 and 9 post infection, where fecal egg counts were highest, the infected animals developed mucoid and then hemorrhagic diarrhoea and they became dull and depressed. Packed cell volumes and hemoglobin concentrations of the infected animals showed progressive reductions compared to the uninfected control calves. The animals were necropsied and perfused at week 12 post infection and tissue egg densities and worm burden were determined.Cinco bezerros foram infectados experimentalmente com 30.000 cercarias de Schistosoma bovis e três bezerros foram usados como controle. Ovos de S. bovis apareceram inicialmente nas fezes dos animais infectados pela 5ª semana após infecção e todos os animais estavam eliminando ovos na 6ª semana após infecção. Entre as 7ª e 9ª semanas após infecção, nas quais a quantidade fecal de ovos era mais alta, os animais infectados manifestaram diarréia com muco seguida por disenteria e os animais apresentando-se morimbundos e depressivos. PCV e concentração da hemoglobina dos animais infectados demonstrou redução progressiva em comparação com os bezerros não infectados. Os animais foram necropsiados na 12ª semana para determinação da densidade de ovos nos tecidos e quantidade de parasitas.

  1. Aequorin variants with improved bioluminescence properties.

    Science.gov (United States)

    Dikici, E; Qu, X; Rowe, L; Millner, L; Logue, C; Deo, S K; Ensor, M; Daunert, S

    2009-04-01

    The photoprotein aequorin has been widely used as a bioluminescent label in immunoassays, for the determination of calcium concentrations in vivo, and as a reporter in cellular imaging. It is composed of apoaequorin (189 amino acid residues), the imidazopyrazine chromophore coelenterazine and molecular oxygen. The emission characteristics of aequorin can be changed by rational design of the protein to introduce mutations in its structure, as well as by substituting different coelenterazine analogues to yield semi-synthetic aequorins. Variants of aequorin were created by mutating residues His16, Met19, Tyr82, Trp86, Trp108, Phe113 and Tyr132. Forty-two aequorin mutants were prepared and combined with 10 different coelenterazine analogues in a search for proteins with different emission wavelengths, altered decay kinetics and improved stability. This spectral tuning strategy resulted in semi-synthetic photoprotein mutants with significantly altered bioluminescent properties.

  2. A compendium of genetic variant data

    DEFF Research Database (Denmark)

    Cardoso, Joao; Schöning, Lars Yannik; Herrgard, Markus

    2014-01-01

    Laboratory strains are genetically unstable if exposed to selective pressure as encountered, for example, during molecular cloning, fermentation, or adaptive laboratory evolution experiments. This genetic variation is the consequence of an adaptation process of the microorganism to stress conditi...... obtained from distinct experiments. This compendium of genetic variant is a critical step to develop approaches to automatically and systematically characterize mutated strains in the future.......Laboratory strains are genetically unstable if exposed to selective pressure as encountered, for example, during molecular cloning, fermentation, or adaptive laboratory evolution experiments. This genetic variation is the consequence of an adaptation process of the microorganism to stress...... conditions, e.g., high pressure or temperature, nutrient limitation, or toxic byproduct concentrations. The evolved strains display then new phenotypes: tolerance to a toxic byproduct or higher temperature, improved production rate of a byproduct, or higher uptake rates of nutrients. To understand...

  3. A look-ahead variant of TFQMR

    Energy Technology Data Exchange (ETDEWEB)

    Freund, R.W. [AT& T Bell Labs., Murray Hill, NJ (United States); Nachtigal, N.M. [Oak Ridge National Lab., TN (United States)

    1994-12-31

    Recently, Freund proposed a Krylov subspace iteration, the transpose-free quasi-minimal residual method (TFQMR), for solving general nonsingular non-Hermitian linear systems. The algorithm relies on a version of the squared Lanczos process to generate the basis vectors for the underlying Krylov subspace. It then constructs iterates defined by a quasi-minimization property, which leads to a smooth and nearly monotone convergence behavior. The authors investigate a variant of TFQMR that uses look-ahead to avoid some of the problems associated with breakdowns in the underlying squared Lanczos procedure. They also present some numerical examples that illustrate the properties of the new method, as compared to the original TFQMR algorithm.

  4. Sturge -Weber Syndrome - Three Classic variants

    Directory of Open Access Journals (Sweden)

    R S Sathawane

    2006-01-01

    Full Text Available Sturge-Weber syndrome (SWS, also known as encephalotrigeminal angiomatosis, a sporadic, non-familial, congenital disorder consists of congenital hamartomatous malformations that may affect the eye, skin and central nervous system at different times. Sturge-Weber syndrome is classified as 1 Complete trisymptomatic: - when all three organ systems i.e. eye, skin and CNS are involved 2 Incomplete bisymptomatic:- when the involvement is either oculocutaneous or neurocutaneous, and 3 Incomplete monosymptomatic: when there is only neural or cutaneous involvement. Failure of proper vascular development is believed to be the most likely cause of this condition. The malformed blood vessels or hemangiomas may lead to port-wine stain, epilepsy and glaucoma depending on its location. Three classic variants with typical findings are discussed.

  5. LEWY BODY VARIANT OF ALZHEIMER DISEASE

    Directory of Open Access Journals (Sweden)

    Jera Jeruc

    2003-10-01

    Full Text Available Background. Clinicopathological studies indicate that Alzheimer’s disease (AD is the most common neurodegenerative cause of dementia, the other frequent causes are AD combined with diffuse Lewy bodies and dementia with Lewy bodies (DLB by itself. When histological features of AD and DLB are found together in one brain we speak about Lewy body variant of AD (LBVAD. Beside global cognitive impairment LBVAD patients show signs of subcortical dementia and mild extrapiramidal signs.Methods and results. We present two patients with post-mortem diagnosis of LBVAD. Clinical and pathomorphological characteristics of the disease are discussed.Conclusions. Post-mortem studies show that LBVAD is the second most common cause of dementia, following AB.

  6. Current conveyors variants, applications and hardware implementations

    CERN Document Server

    Senani, Raj; Singh, A K

    2015-01-01

    This book serves as a single-source reference to Current Conveyors and their use in modern Analog Circuit Design. The authors describe the various types of current conveyors discovered over the past 45 years, details of all currently available, off-the-shelf integrated circuit current conveyors, and implementations of current conveyors using other, off-the-shelf IC building blocks. Coverage includes prominent bipolar/CMOS/Bi-CMOS architectures of current conveyors, as well as all varieties of starting from third generation current conveyors to universal current conveyors, their implementations and applications. •Describes all commercially available off-the-shelf IC current conveyors, as well as hardware implementations of current conveyors using other off-the-shelf ICs; • Describes numerous variants of current conveyors evolved over the past forty five years; • Describes a number of Bipolar/CMOS/Bi-CMOS architectures of current conveyors, along with their characteristic features; • Includes a comprehe...

  7. Genetic variants in periodontal health and disease

    Energy Technology Data Exchange (ETDEWEB)

    Dumitrescu, Alexandrina L. [Tromsoe Univ. (Norway). Inst. of Clinical Dentistry; Kobayashi, Junya [Kyoto Univ. (Japan). Dept. of Genome Repair Dynamics

    2010-07-01

    Periodontitis is a complex, multifactorial disease and its susceptibility is genetically determined. The present book systematically reviews the evidence of the association between the genetic variants and periodontitis progression and/or treatment outcomes. Genetic syndromes known to be associated with periodontal disease, the candidate gene polymorphisms investigated in relation to periodontitis, the heritability of chronic and aggressive periodontitis, as well as common guidelines for association studies are described. This growing understanding of the role of genetic variation in inflammation and periodontal chronic disease presents opportunities to identify healthy persons who are at increased risk of disease and to potentially modify the trajectory of disease to prolong healthy aging. The book represents a new concept in periodontology with its pronounced focus on understanding through knowledge rather than presenting the presently valid answers. Connections between genetics and periodontology are systematically reviewed and covered in detail. (orig.)

  8. Multicentric variant of peripheral ossifying fibroma

    Directory of Open Access Journals (Sweden)

    Srikanth A Choudary

    2014-01-01

    Full Text Available Peripheral ossifying fibroma (POF is a solitary over growth of the gingiva known to arise from the cells of the periodontal ligament. The lesions usually start as a painless overgrowth of the interdental papilla unless associated with trauma and gradually involve the other counter parts of the gingiva. The lesion is more considered to be an inflammatory or reactive process rather than to be neoplastic. Here, the authors present a unique case of multiple POF in a young male adult aged 24 years where surgical excision was carried out quadrant wise. The biopsy specimen from multiple sites revealed similar histopathologic features consistent with POF, but also with the multicentric presentation of POF, which is a unique phenomenon. Multicentric variant of POF is indeed a rare case being only the second case so far which has been documented. Management of such case needs a multidisciplinary approach to prevent the recurrence along with regular long time follow-up.

  9. Nevo de Sutton simulando nevo em cocar: relato de caso Sutton's Nevus simulating cockade nevus: report of a case

    Directory of Open Access Journals (Sweden)

    Maurício Zanini

    2004-12-01

    Full Text Available Os autores relatam um caso de nevo halo de Sutton simulando clinicamente o nevo em cocar. Nevo em cocar é uma rara variante do nevo nevomelanocítico adquirido que apresenta característico aspecto de lesão em alvo. Pode determinar dificuldade diagnóstica com nevo nevomelanocítico displásico, melanoma e nevo halo de Sutton.Authors relate a case of Sutton's nevus clinically simulating the cockade nevus. Cockade nevus is a rare form of acquired nevomelanocytic nevus that presents characteristic aspect of target-like lesion. It may determine difficulty diagnostic with melanoma, dysplastic and Sutton's nevus.

  10. Nevo de Sutton simulando nevo em cocar: relato de caso Sutton's Nevus simulating cockade nevus: report of a case

    OpenAIRE

    Maurício Zanini; Carlos d'Apparecida Machado Filho; Francisco Macedo Paschoal; Francisco Le Vocci

    2004-01-01

    Os autores relatam um caso de nevo halo de Sutton simulando clinicamente o nevo em cocar. Nevo em cocar é uma rara variante do nevo nevomelanocítico adquirido que apresenta característico aspecto de lesão em alvo. Pode determinar dificuldade diagnóstica com nevo nevomelanocítico displásico, melanoma e nevo halo de Sutton.Authors relate a case of Sutton's nevus clinically simulating the cockade nevus. Cockade nevus is a rare form of acquired nevomelanocytic nevus that presents characteristic a...

  11. Substituição parcial do farelo de soja pela farinha de carne e ossos em dietas para juvenis de tilápia-do-nilo

    Directory of Open Access Journals (Sweden)

    Eduardo Gianini Abimorad

    2014-11-01

    Full Text Available O objetivo deste trabalho foi avaliar os efeitos da substituição parcial do farelo de soja pela farinha de carne e ossos em dietas para juvenis de tilápia-do-nilo na digestibilidade, na saúde, no desempenho e no custo de arraçoamento. O experimento foi conduzido durante 14 semanas, com 400 juvenis (4,9±0,6 g distribuídos ao acaso em 16 tanques. Os peixes foram alimentados com quatro dietas contendo 0, 15, 30 e 45% de substituição da proteína do farelo de soja pela proteína da farinha de carne e ossos. Foram avaliados parâmetros de desempenho, digestibilidade, hematologia e custo de arraçoamento. Os melhores resultados para ganho em peso e conversão alimentar aparente foram observados com 40 e 32% de substituição, respectivamente. O menor custo de arraçoamento foi obtido com 30 e 45%. Houve efeito linear decrescente dos coeficientes de digestibilidade aparente da proteína com o aumento nos níveis de farinha de carne e ossos. Os peixes alimentados com dietas contendo até 24% de substituição apresentam aumento da concentração de hemoglobina. A dieta com 32% de substituição da proteína do farelo de soja pela proteína da farinha de carne e ossos promove melhor conversão alimentar para tilápia-do-nilo.

  12. Treatment of spelling variants in Setswana monolingual dictionaries

    African Journals Online (AJOL)

    user

    Abstract: This paper argues that the Setswana language is characterised by spelling variants which are a consequence of ... be pronunciation variants, as those found, for instance, in words such as data. (deɪtə or dɑ:tə), ...... idiom is "an independent lexical item having an opaque meaning" (Svensén. 2009: 194). Treatment ...

  13. Growth differentiation factor 9 gene variants in Sudanese desert ...

    African Journals Online (AJOL)

    Certain variants in the growth differentiation factor 9 (GDF9) gene have major effects on the ovulation rate in sheep. The aim of this study was to analyse GDF9 variability in the Sudanese desert sheep ecotypes Ashgar, Dubasi and Watish, and to test identified variants for association with litter size. For this purpose, ewes of ...

  14. Association analysis identifies ZNF750 regulatory variants in psoriasis

    Directory of Open Access Journals (Sweden)

    Birnbaum Ramon Y

    2011-12-01

    Full Text Available Abstract Background Mutations in the ZNF750 promoter and coding regions have been previously associated with Mendelian forms of psoriasis and psoriasiform dermatitis. ZNF750 encodes a putative zinc finger transcription factor that is highly expressed in keratinocytes and represents a candidate psoriasis gene. Methods We examined whether ZNF750 variants were associated with psoriasis in a large case-control population. We sequenced the promoter and exon regions of ZNF750 in 716 Caucasian psoriasis cases and 397 Caucasian controls. Results We identified a total of 47 variants, including 38 rare variants of which 35 were novel. Association testing identified two ZNF750 haplotypes associated with psoriasis (p ZNF750 promoter and 5' UTR variants displayed a 35-55% reduction of ZNF750 promoter activity, consistent with the promoter activity reduction seen in a Mendelian psoriasis family with a ZNF750 promoter variant. However, the rare promoter and 5' UTR variants identified in this study did not strictly segregate with the psoriasis phenotype within families. Conclusions Two haplotypes of ZNF750 and rare 5' regulatory variants of ZNF750 were found to be associated with psoriasis. These rare 5' regulatory variants, though not causal, might serve as a genetic modifier of psoriasis.

  15. Exact solutions for nonlinear variants of Kadomtsev–Petviashvili (n ...

    Indian Academy of Sciences (India)

    Exact solutions for nonlinear variants of Kadomtsev–Petviashvili (, ) equation using functional variable method. M Mirzazadeh M Eslami. Volume 81 Issue ... The functional variable method is used to establish compactons, solitons, solitary patterns and periodic solutions for these variants. This method is a powerful tool for ...

  16. Prevalence of haemoglobin variants among the Ika ethnic nationality ...

    African Journals Online (AJOL)

    Background: Haemoglobin genotype is an important blood component that determines haemoglobinopathies. Distribution of haemoglobin variants was investigated among the Ika ethnic nationality of Delta State, Nigeria. Aim: The resent study was conducted to determine the prevalence of haemoglobin variants and also to ...

  17. Genetic polymorphism of milk protein variants and their association ...

    African Journals Online (AJOL)

    To the best of our knowledge, this is the first detailed study involving frequency distribution of genetic variants and their effects on milk yield in Bos indicus Sahiwal cattle of Pakistan. Keywords: Genetic variant, milk protein genes, Sahiwal cattle. African Journal of Biotechnology, Vol. 13(4), pp. 555-565, 22 January, 2014 ...

  18. Managing Process Variants in the Process Life Cycle

    NARCIS (Netherlands)

    Hallerbach, A.; Bauer, Th.; Reichert, M.U.

    2007-01-01

    When designing process-aware information systems, often variants of the same process have to be specified. Each variant then constitutes an adjustment of a particular process to specific requirements building the process context. Current Business Process Management (BPM) tools do not adequately

  19. Detecting rare variants in case-parents association studies.

    Directory of Open Access Journals (Sweden)

    Kuang-Fu Cheng

    Full Text Available Despite the success of genome-wide association studies (GWASs in detecting common variants (minor allele frequency ≥0.05 many suggested that rare variants also contribute to the genetic architecture of diseases. Recently, researchers demonstrated that rare variants can show a strong stratification which may not be corrected by using existing methods. In this paper, we focus on a case-parents study and consider methods for testing group-wise association between multiple rare (and common variants in a gene region and a disease. All tests depend on the numbers of transmitted mutant alleles from parents to their diseased children across variants and hence they are robust to the effect of population stratification. We use extensive simulation studies to compare the performance of four competing tests: the largest single-variant transmission disequilibrium test (TDT, multivariable test, combined TDT, and a likelihood ratio test based on a random-effects model. We find that the likelihood ratio test is most powerful in a wide range of settings and there is no negative impact to its power performance when common variants are also included in the analysis. If deleterious and protective variants are simultaneously analyzed, the likelihood ratio test was generally insensitive to the effect directionality, unless the effects are extremely inconsistent in one direction.

  20. Isolation and characterization of human rhinovirus antigenic variants

    Energy Technology Data Exchange (ETDEWEB)

    Watson, D.G.

    1985-01-01

    Isolation of antigenic variants of human rhinovirus types 2, 14, and 17 was attempted by plaquing untreated virus (P-isolates), selecting variants in the presence of homologous antiserum (C-isolates), and by selecting variants in the presence of antibody following 5-fluorouracil mutagenesis (M-isolates). All viruses were triple-plaque purified and purity neutralization tested prior to isolate selection. Based on a fourfold reduction in neutralizing antibody titer to homologous antiserum, no antigenic variation was found in P-isolates from the three serotypes examined. Antigenic variants of all three serotypes could be isolated by the antiserum selection method (C-isolates). However, antigenic variants of RV17 were isolated at a much higher frequency and showed a larger degree of variation than those of RV2 and RV14. At least two of the variants selected, RV17 (C301) and RV2 (M803), failed to be neutralized by the known 89 rhinovirus antiserum. SDS-polyacrylamide gel electrophoresis of (/sup 35/S) methionine-labelled virion polypeptides revealed that each serotype had a characteristic pattern and that selected RV2 and RV17 isolates had patterns identical to those of the prototype strains. By isoelectric focusing an antigenic variant of RV2 was shown to contain altered virion polypeptides VP1 and VP2 whereas two RV17 antigenic variants demonstrated alterations only in the VP1 polypeptide.

  1. Copy number variants in patients with short stature

    NARCIS (Netherlands)

    Duyvenvoorde, H.A. van; Lui, J.C.; Kant, S.G.; Oostdijk, W.; Gijsbers, A.C.; Hoffer, M.J.V.; Karperien, M.; Walenkamp, M.J.; Noordam, C.; Voorhoeve, P.G.; Mericq, V.; Pereira, A.M.; Claahsen-van der Grinten, H.L.; Gool, S.A. van; Breuning, M.H.; Losekoot, M.; Baron, J.; Ruivenkamp, C.A.; Wit, J.M.

    2014-01-01

    Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about 10% of the phenotypic variation in height. Genetic analysis of short individuals

  2. Hepatitis E Virus Variant in Farmed Mink, Denmark

    DEFF Research Database (Denmark)

    Krog, Jesper Schak; Breum, Solvej Østergaard; Jensen, Trine Hammer

    2013-01-01

    Hepatitis E virus (HEV) is a zoonotic virus for which pigs are the primary animal reservoir. To investigate whether HEV occurs in mink in Denmark, we screened feces and tissues from domestic and wild mink. Our finding of a novel HEV variant supports previous findings of HEV variants in a variety...

  3. Treatment of Spelling Variants in Setswana Monolingual Dictionaries

    African Journals Online (AJOL)

    This paper argues that the Setswana language is characterised by spelling variants which are a consequence of multiple factors. It considers spelling variants found amongst individual words as well as those found in multi-word expressions (MWEs). It argues that spelling variation may be a result of historical fissions and ...

  4. Assessment of Functional Effects of Unclassified Genetic Variants

    NARCIS (Netherlands)

    Couch, Fergus J.; Rasmussen, Lene Juel; Hofstra, Robert; Monteiro, Alvaro N. A.; Greenblatt, Marc S.; de Wind, Niels

    2008-01-01

    Inherited predisposition to disease is often linked to reduced activity of a disease associated gene product. Thus, quantitation of the influence of inherited variants on gene function can potentially be used to predict the disease relevance of these variants. While many disease genes have been

  5. Phenotypes and genotypes in individuals with SMC1A variants

    DEFF Research Database (Denmark)

    Huisman, Sylvia; Mulder, Paul A; Redeker, Egbert

    2017-01-01

    SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. We performed an ...

  6. Expression and secretion of defined cutinase variants by Aspergillus awamori

    NARCIS (Netherlands)

    Gemeren, I.A. van; Beijersbergen, A.; Hondel, C.A.M.J.J. van den; Verrips, C.T.

    1998-01-01

    Several cutinase variants derived by molecular modelling and site- directed mutagenesis of a cutinase gene from Fusarium solani pisi are poorly secreted by Saccharomyces cerevisiae. The majority of these variants are successfully produced by the filamentous fungus Aspergillus awamori. However, the

  7. Variant Anatomy of the External Jugular Vein | Olabu | Anatomy ...

    African Journals Online (AJOL)

    Variant anatomy of the external jugular vein is important when performing invasive procedures in the neck. Although there are a number of case reports on some of these variations, there are few descriptive cross-sectional regarding the same. This study therefore aimed at describing the variant anatomy of the external ...

  8. Modelo autoregressivo vetorial com coeficientes variantes no tempo e aplicações em RMf

    OpenAIRE

    João Ricardo Sato

    2007-01-01

    Os avanços nas técnicas de neuroimagem, principalmente com o de- senvolvimento da ressonância magnética funcional (RMf), vem possibilitando um melhor compreendimento dos processos e mecanismos cerebrais. Este trabalho tem como objetivo o desenvolvimento de um modelo de conectividade dinâmico entre diversas áreas cerebrais útilzando dados de RMf. A modelagem dinâmica do fluxo de informação é realizada com a estimação dos parâmetros de um modelo autoregressivo multivariado com coeficientes vari...

  9. Evaluación de aislamientos de <em>Trichoderma spp.em> contra <em>Rhizoctonia solani em>y <em>Sclerotium rolfsiiem> bajo condiciones<em> in vitro em>y de invernadero

    Directory of Open Access Journals (Sweden)

    Hoyos-Carvajal Liliana

    2008-12-01

    Full Text Available

    Se evaluó la eficacia biológica de ocho aislamientos de <em>Trichoderma spp. em> provenientes de suelos de Colombia para el control de los agentes causales de volcamiento, <em> Sclerotium rolfsiiem> y <em> Rhizoctonia solaniem>, bajo condiciones <em> in vitroem> y de invernadero. Los análisis <em> in vitroem> mostraron la capacidad antagónica de todos los aislamientos evaluados. En condiciones de invernadero, cuatro aislamientos fueron altamente eficaces contra <em> S. rolfsiiem> en plantas de fríjol en semillero (>90% de reducción de la enfermedad y dos aislamientos fueron eficaces contra <em> R. solaniem> en plantas de algodón en semillero (58 y 61% de reducción de la enfermedad. El análisis UP-PCR y DS-PCR permitió determinar tres grupos de aislamientos; dentro de estas asociaciones formadas no se encontró ninguna relación evidente entre la posición en el dendrograma y la actividad antagónica, pero sí permitió separar las especies de <em> Trichodermaem> por grupos, e incluso encontrar diferencias dentro de aislamientos de una misma especie. Los resultados muestran que el comportamiento micoparasítico de los aislamientos de <em> Trichoderma spp. em> varía según el hongo fitopatógeno, evidenciando una amplia especificidad del antagonista por su sustrato, es decir por el hongo atacado; por lo tanto es necesario realizar cuidadosas selecciones del aislamiento de <em> Trichodermaem> que se utilice en programas de control de fitopatógenos.

  10. Expression of Selected <em>Ginkgo em>>biloba em>Heat Shock Protein Genes After Cold Treatment Could Be Induced by Other Abiotic Stress

    Directory of Open Access Journals (Sweden)

    Feng Xu

    2012-05-01

    Full Text Available Heat shock proteins (HSPs play various stress-protective roles in plants. In this study, three <em>HSP> genes were isolated from a suppression subtractive hybridization (SSH cDNA library of <em>Ginkgo bilobaem> leaves treated with cold stress. Based on the molecular weight, the three genes were designated <em>GbHSP16.8em>, <em>GbHSP17em> and <em>GbHSP70em>. The full length of the three genes were predicted to encode three polypeptide chains containing 149 amino acids (Aa, 152 Aa, and 657 Aa, and their corresponding molecular weights were predicted as follows: 16.67 kDa, 17.39 kDa, and 71.81 kDa respectively. The three genes exhibited distinctive expression patterns in different organs or development stages. <em>GbHSP16.8em> and <em>GbHSP70em> showed high expression levels in leaves and a low level in gynoecia, <em>GbHSP17em> showed a higher transcription in stamens and lower level in fruit. This result indicates that <em>GbHSP16.8em> and <em>GbHSP70 em>may play important roles in <em>Ginkgo> leaf development and photosynthesis, and <em>GbHSP17em> may play a positive role in pollen maturation. All three <em>GbHSPs> were up-regulated under cold stress, whereas extreme heat stress only caused up-regulation of <em>GbHSP70em>, UV-B treatment resulted in up-regulation of <em>GbHSP16.8em> and <em>GbHSP17em>, wounding treatment resulted in up-regulation of <em>GbHSP16.8em> and <em>GbHSP70em>, and abscisic acid (ABA treatment caused up-regulation of <em>GbHSP70em> primarily.

  11. VARIANT OF THE CONSTRUCTION OF KATUN (ALTAI HYDROELECTRIC COMPLEX WITH COMBINED DAM

    Directory of Open Access Journals (Sweden)

    Sainov Mikhail Petrovich

    2016-06-01

    Full Text Available The authors give the description of an alternative construction variant of high-head Katun HPP where a reinforced-concrete faced rockfill dam will be the main water retaining structure. At the present moment it is doubtful that at the particular site a high-head complex will be constructed; the discussions are related only to the possibility of a medium-head project construction (to be called Altai HPP. Therefore, it is necessary to design Altai HPP in such a way that its concrete spillway dam will be further able to become a part of a high-head embankment dam. Therefore, we considered the alternative, where Katun HPP dam would be a combined dam by its structure; a high-head em-bankment dam will rest on a less high concrete dam. All the structures were designed for this variant as well as river diversion scheme and the diversion layout at all construction stages were developed. For this purpose “drops in wells” are proposed to be used. The combined dam structure was validated by the stress-strain state analysis under static and seismic loads. In order to improve shear strength of the concrete part of the dam it was proposed to arrange an upstream apron for decreasing seepage uplift.

  12. Evaluation of blood loss after early or late release of ischemia in patients undergoing total knee replacement Avaliação da perda sanguínea após a liberação precoce ou tardia da isquemia em pacientes submetidos à artroplastia total do joelho

    Directory of Open Access Journals (Sweden)

    Marcos George de Souza Leão

    2013-04-01

    liberada antes do fechamento da ferida operatória, o que permitiu o controle do sangramento. No segundo a isquemia foi liberada após suturas e curativo compressivo. Foram comparados os resultados dos níveis de hemoglobina sérica antes da cirurgia e em 48 horas do pós-operatório, o volume sanguíneo contido no dreno de sucção a vácuo nesse período e a quantidade de transfusões de sangue que foram necessárias. RESULTADOS: Os níveis de hemoglobina pós-operatória tiveram uma diminuição média de 3,57g∕dL no grupo A e de 4,24g∕dL no grupo B, consideradas estatisticamente insignificantes (p = 0,23. Quatro pacientes nos dois grupos receberam duas unidades de concentrado de hemácias, sendo a diferença entre as médias drenado foram considerados estatisticamente insignificantes, para os grupos estudados. CONCLUSÃO: A concentração de hemoglobina sérica pós-operatória, bem como a necessidade de hemoderivados, nos pacientes submetidos à artroplastia total do joelho, na qual a liberação da isquemia foi deflagrada antes do fechamento da ferida operatória, não tem significância estatística quando comparada com a dos pacientes em que essa liberação foi feita após suturas e cultivado. Nivel de evidencia IB - Ensaio clínico controlado e rendomizado com intervalo de confiança estreito.

  13. Correlation between leukoaraiosis volume and circle of Willis variants.

    Science.gov (United States)

    Saba, Luca; Raz, Eytan; Fatterpekar, Girish; Montisci, Roberto; di Martino, Michele; Bassareo, Pier Paolo; Piga, Mario

    2015-01-01

    The Circle of Willis (COW) is the main collateral system between the bilateral carotid systems and the posterior circulation. COW normal variants are encountered in up to 62% of subjects. We hypothesize that, in patients with carotid artery stenosis, the presence of COW variants is a risk factor for leukoaraiosis. Forty-seven patients (mean age 72.1 ± 9 years, males = 39) with carotid artery stenosis admitted for carotid endarterectomy were included and underwent an admission brain MRI/MRA. Two neuroradiologists evaluated the COW variants. FLAIR-leukoaraiosis lesion-volume was performed using a semiautomated segmentation technique. Mann-Whitney and Pearson correlations were conducted to identify the correlation between the FLAIR-leukoaraiosis lesion-volume and the COW variants. ROC analysis was performed to evaluate the AUC of FLAIR-leukoaraiosis lesion-volume and presence/absence of COW variants. Pearson correlation demonstrated that the leukoaraiosis lesion-volume is significantly associated with the COW variants number (rho = .358, P = .0215). When patients were dicotomized in two subgroups, with and without COW variants, the lesion-volume was significantly higher in the variants group (P = .0405). The ROC curve analysis showed an AUC of .688 (SE = .083, 95%CI = .525-.823) with a statistically significant P = .0225, between the presence of COW variants and the FLAIR-leukoaraiosis lesion-volume. The presence and the number of COW variants are associated with a higher leukoaraiosis volume in patients with significant internal carotid artery stenosis. Copyright © 2014 by the American Society of Neuroimaging.

  14. Bayesian detection of causal rare variants under posterior consistency.

    KAUST Repository

    Liang, Faming

    2013-07-26

    Identification of causal rare variants that are associated with complex traits poses a central challenge on genome-wide association studies. However, most current research focuses only on testing the global association whether the rare variants in a given genomic region are collectively associated with the trait. Although some recent work, e.g., the Bayesian risk index method, have tried to address this problem, it is unclear whether the causal rare variants can be consistently identified by them in the small-n-large-P situation. We develop a new Bayesian method, the so-called Bayesian Rare Variant Detector (BRVD), to tackle this problem. The new method simultaneously addresses two issues: (i) (Global association test) Are there any of the variants associated with the disease, and (ii) (Causal variant detection) Which variants, if any, are driving the association. The BRVD ensures the causal rare variants to be consistently identified in the small-n-large-P situation by imposing some appropriate prior distributions on the model and model specific parameters. The numerical results indicate that the BRVD is more powerful for testing the global association than the existing methods, such as the combined multivariate and collapsing test, weighted sum statistic test, RARECOVER, sequence kernel association test, and Bayesian risk index, and also more powerful for identification of causal rare variants than the Bayesian risk index method. The BRVD has also been successfully applied to the Early-Onset Myocardial Infarction (EOMI) Exome Sequence Data. It identified a few causal rare variants that have been verified in the literature.

  15. Incorporating Non-Coding Annotations into Rare Variant Analysis.

    Directory of Open Access Journals (Sweden)

    Tom G Richardson

    Full Text Available The success of collapsing methods which investigate the combined effect of rare variants on complex traits has so far been limited. The manner in which variants within a gene are selected prior to analysis has a crucial impact on this success, which has resulted in analyses conventionally filtering variants according to their consequence. This study investigates whether an alternative approach to filtering, using annotations from recently developed bioinformatics tools, can aid these types of analyses in comparison to conventional approaches.We conducted a candidate gene analysis using the UK10K sequence and lipids data, filtering according to functional annotations using the resource CADD (Combined Annotation-Dependent Depletion and contrasting results with 'nonsynonymous' and 'loss of function' consequence analyses. Using CADD allowed the inclusion of potentially deleterious intronic variants, which was not possible when filtering by consequence. Overall, different filtering approaches provided similar evidence of association, although filtering according to CADD identified evidence of association between ANGPTL4 and High Density Lipoproteins (P = 0.02, N = 3,210 which was not observed in the other analyses. We also undertook genome-wide analyses to determine how filtering in this manner compared to conventional approaches for gene regions. Results suggested that filtering by annotations according to CADD, as well as other tools known as FATHMM-MKL and DANN, identified association signals not detected when filtering by variant consequence and vice versa.Incorporating variant annotations from non-coding bioinformatics tools should prove to be a valuable asset for rare variant analyses in the future. Filtering by variant consequence is only possible in coding regions of the genome, whereas utilising non-coding bioinformatics annotations provides an opportunity to discover unknown causal variants in non-coding regions as well. This should allow

  16. Resposta osteomielogênica ectópica ao implante de matriz óssea desmineralizada em camundongos tratados com bussulfano

    Directory of Open Access Journals (Sweden)

    Julieta Rodini Engrácia de Moraes

    1996-09-01

    Full Text Available Camundongos Swiss, fêmeas, (25-30 g; n = 100 receberam 4 injeções de bussulfano (20 mg/kg, ip a intervalos de 15 dias (n = 100. Antes do tratamento e após 30, 60 e 90 dias, os animais deste e de um grupo controle (n = 15 foram avaliados quanto ao leucograma, taxa de hemoglobina e hematrócito por meio do sangue colhido por punção retroorbital. Sessenta dias após o início do tratamento, 60 animais sobreviventes do grupo tratado e 15 animais do grupo controle receberam implantes intermuseulares de matriz óssea desmineralizada (MOD-10 mg. No 90s dia (30 dias após o implante foram sacrificados para exame histológico da medula óssea esternal (MOE e da resposta osteomielogênica ao implante de MOD. Trinta dias após o início do tratamento observou-se leucopenia, com diminuição do número de granulócitos, linfócitos e monócitos nos animais que receberam bussulfano. O hematócrito e a taxa de hemoglobina apresentaram-se diminuídos no 609 dia. O exame histológico da MOE do grupo tratado revelou hipocelularidade, dilatação dos capilares sinusóides e redução do número de megacariócitos (50%. Os animais controle apresentaram 100% de resposta positiva ao implante de MOD, havendo formação de placas metaplásicas compostas por trabéculas ósseas contendo cavitações preenchidas por células hematopoiéticas. Em 46,7% dos animais tratados observou-se resposta osteomielogênica semelhante à do grupo controle, mas com hipocelularidade e maior componente de adipócitos; 25% apresentaram resposta osteomielogênica tardia e incompleta com menor componente ósseo, maior componente cartilaginoso e ausência de células hematopoiéticas; nos 28,3% restantes a resposta foi negativa.

  17. HIV-1 genetic variants in Kyrgyzstan

    Directory of Open Access Journals (Sweden)

    V Laga

    2012-11-01

    Full Text Available Objectives: During the last two decades, HIV-1 has been spreading rapidly in former Soviet Union republics including Kyrgyzstan. The current molecular monitoring of HIV-infection epidemic is carried out in Russia only with no or limited data from the other FSU countries. The aim of this work was to investigate the prevalence of HIV-1 genetic variants circulating in Kyrgyzstan. Methods: Blood collection from the HIV-infected patients was carried out by local specialists with the informed consent and the questionnaire was answered by each of the patients. The total number of samples was 100. The washed cell pellets were transferred to Moscow following with proviral DNA extraction, PCR amplification and gag, pol and env genes sequencing. The phylogenetic analysis of nucleotide sequences using neighbor-joining method was carried out by MEGA 3 program. The preliminary data were obtained in 22 samples isolated from PBMC of HIV-infected patients from Kyrgyzstan. Results: Among the samples studied 6 (27.3% samples belonged to a subtype CRF02_AG, 16 samples - to subtype A (A1. One of the samples belonging to CRF02_AG, probably, is a recombinant between CRF02_AG and A1. There was no major drug resistance mutations in the samples studied. The minor mutations were presented in small proportions: 1 in PR (L10I, 6 in RT (A62V - in 3 samples, V108G, E138A, Y181F, M184I, L210M - on one sample and 1 in IN (L74M. It was impossible to associate the distribution of mutations with HIV-1 genetic variant. The V3 loop (env gene in 17 samples was analyzed for tropism using geno2pheno program; all samples were found to be R5-viruses. Conclusion: The HIV-1 subtype A seems to dominate in Kyrgyzstan like in other FSU countries. The recombinant CRF02_AG epidemiologically linked to Uzbekistan is quite widespread. The rest of Kyrgyzstan collection is under investigation and the data will be refined soon.

  18. Characterizing local EMS systems.

    Science.gov (United States)

    2013-08-01

    Emergency medical services (EMS) systems are configured differently depending on several factors, including the size, demographics, geography, and politics of the local communities they serve. Although some information exists about the organization, ...

  19. International EMS Systems

    DEFF Research Database (Denmark)

    Langhelle, Audun; Lossius, Hans Morten; Silfvast, Tom

    2004-01-01

    Emergency medicine service (EMS) systems in the five Nordic countries have more similarities than differences. One similarity is the involvement of anaesthesiologists as pre-hospital physicians and their strong participation for all critically ill and injured patients in-hospital. Discrepancies do...... exist, however, especially within the ground and air ambulance service, and the EMS systems face several challenges. Main problems and challenges emphasized by the authors are: (1) Denmark: the dispatch centres are presently not under medical control and are without a national criteria based system....... Access to on-line medical advice of a physician is not available; (2) Finland: the autonomy of the individual municipalities and their responsibility to cover for primary and specialised health care, as well as the EMS, and the lack of supporting or demanding legislation regarding the EMS; (3) Iceland...

  20. Variants of polypeptides having cellulolytic enhancing activity and polynucleotides encoding same

    Energy Technology Data Exchange (ETDEWEB)

    Sweeney, Matt; Wogulis, Mark

    2017-11-14

    The present invention relates to polypeptide having cellulolytic enhancing activity variants. The present invention also relates to polynucleotides encoding the variants; nucleic acid constructs, vectors, and host cells comprising the polynucleotides; and methods of using the variants.

  1. Hemoglobinúria paroxística noturna: revisão bibliográfica e relatos de casos de pacientes em tratamento com eculizumabe no ambulatório de hematologia do Conjunto Hospitalar de Sorocaba

    Directory of Open Access Journals (Sweden)

    Antonianna Furtado Cavalcante Vecina

    2015-10-01

    Full Text Available A Hemoglobinúria Paroxística Noturna (HPN é uma desordem hematológica rara causada por mutações somáticas adquiridas no gene PIG-A e que levam à deficiência na síntese de âncoras de GPI, responsáveis por manter aderidas à membrana plasmática proteínas como a CD55 e a CD59, expressas em todas as células hematopoiéticas. Por provocar, caracteristicamente, anemia hemolítica, pancitopenia e trombose venosa, a expressão “tríade da HPN” é utilizada a fim de se fazer referência a essas condições apresentadas com frequência no curso clínico da doença. O Eculizumabe, um anticorpo monoclonal, é a mais recente forma de tratamento para HPN. O objetivo dessa pesquisa é caracterizar a população portadora de HPN atendida no ambulatório de Hematologia do Conjunto Hospitalar de Sorocaba (CHS, realizar revisão bibliográfica sobre o tema e avaliar a resposta ao tratamento com Eculizumabe. Trata-se de estudo retrospectivo observacional dos pacientes portadores de HPN, diagnosticada através de Imunofenotipagem, atendidos no ambulatório de Hematologia do CHS, entre 2006 e 2015. Sete pacientes foram identificados como portadores de HPN. A mediana de idade foi de 49 anos, com discreto predomínio do sexo masculino. Os sintomas apresentados com maior frequência foram os relacionados à anemia. Todos os pacientes, além de anemia severa, também evidenciavam leucopenia e plaquetopenia. A maioria apresentava DHL elevado. Os pacientes em tratamento com Eculizumabe (n=4 apresentaram melhora dos sintomas, normalização da hemoglobina (p= 0,0092 e diminuição dos níveis de DHL (p=0,2378. Assim, todos pacientes com HPN apresentavam anemia severa e DHL como principal marcador de hemólise. O uso do Eculizumabe se provou eficaz na melhora do nível de hemoglobina dos pacientes, deixando-os livres de anemia e de transfusões.

  2. Anemia como fator prognóstico em uma população hospitalizada por insuficiência cardíaca descompensada Anemia as a prognostic factor in a population hospitalized due to decompensated heart failure

    Directory of Open Access Journals (Sweden)

    Ana Luíza F. Sales

    2005-03-01

    Full Text Available OBJETIVO: Estudar a prevalência e o valor prognóstico da anemia em uma população hospitalizada por insuficiência cardíaca descompensada. MÉTODOS: De julho a setembro de 2001, 204 pacientes foram incluídos em um registro hospitalar multicêntrico de insuficiência cardíaca (Estudo EPICA-Niterói. Os 142 que tinham dados sobre hematócrito e hemoglobina coletados na admissão hospitalar compuseram esta análise retrospectiva. A idade média foi de 69,5±13,3 anos e 72 (50,7% eram do sexo masculino. Considerou-se como anemia uma hemoglobina OBJECTIVE: To study the prevalence and prognostic value of anemia in a population hospitalized due to decompensated heart failure. METHOD: From July to September, 2001, 204 patients were included in a multicenter hospital registry of heart failure (EPICA Study _ Niterói. This retrospective analysis comprised 142 patients with data about hematocrit and hemoglobin levels collected on hospital admission. The mean age was 69.5±13.3 years, and 72 (50.7% patients were men. Hemoglobin levels < 13.5 g/dL for men and < 12 g/dL for women were considered anemia. The relation between anemia and in-hospital mortality was assessed through univariate and multivariate analysis with logistic regression. RESULTS: Anemia was observed in 89 (62.6% patients, 52 (58% men and 37 (42% women. Mortality in anemic patients was 16.8% and, in nonanemic, it was 8% (P=0.11. In both sexes, the mortality rates in anemic and nonanemic patients were, respectively, 19.2% vs 0% (P=0.034 and 13.5% vs 12.2% (P=0.86. Through multivariate analysis, the following variables were found to be independently related to in-hospital mortality: hyponatremia [RR=7.0; 95% confidence interval (95% CI=6.1 to 8.7; P=0.0001], anemia (RR=3.1, 95% CI=2.4 to 4.3; P=0.024, and presence of NYHA functional class IV (RR=1.9; 95% CI=1.3 to 2.6; P=0.04. CONCLUSION: In the population studied with decompensated heart failure, the presence of anemia was an independent

  3. The Clinical Significance of Unknown Sequence Variants in BRCA Genes

    Energy Technology Data Exchange (ETDEWEB)

    Calò, Valentina; Bruno, Loredana; Paglia, Laura La; Perez, Marco; Margarese, Naomi [Department of Surgery and Oncology, Regional Reference Center for the Biomolecular Characterization and Genetic Screening of Hereditary Tumors, University of Palermo, Via del Vespro 127, 90127 Palermo (Italy); Gaudio, Francesca Di [Department of Medical Biotechnologies and Legal Medicine, University of Palermo, Palermo (Italy); Russo, Antonio, E-mail: lab-oncobiologia@usa.net [Department of Surgery and Oncology, Regional Reference Center for the Biomolecular Characterization and Genetic Screening of Hereditary Tumors, University of Palermo, Via del Vespro 127, 90127 Palermo (Italy)

    2010-09-10

    Germline mutations in BRCA1/2 genes are responsible for a large proportion of hereditary breast and/or ovarian cancers. Many highly penetrant predisposition alleles have been identified and include frameshift or nonsense mutations that lead to the translation of a truncated protein. Other alleles contain missense mutations, which result in amino acid substitution and intronic variants with splicing effect. The discovery of variants of uncertain/unclassified significance (VUS) is a result that can complicate rather than improve the risk assessment process. VUSs are mainly missense mutations, but also include a number of intronic variants and in-frame deletions and insertions. Over 2,000 unique BRCA1 and BRCA2 missense variants have been identified, located throughout the whole gene (Breast Cancer Information Core Database (BIC database)). Up to 10–20% of the BRCA tests report the identification of a variant of uncertain significance. There are many methods to discriminate deleterious/high-risk from neutral/low-risk unclassified variants (i.e., analysis of the cosegregation in families of the VUS, measure of the influence of the VUSs on the wild-type protein activity, comparison of sequence conservation across multiple species), but only an integrated analysis of these methods can contribute to a real interpretation of the functional and clinical role of the discussed variants. The aim of our manuscript is to review the studies on BRCA VUS in order to clarify their clinical relevance.

  4. NECTAR: a database of codon-centric missense variant annotations.

    Science.gov (United States)

    Gong, Sungsam; Ware, James S; Walsh, Roddy; Cook, Stuart A

    2014-01-01

    NECTAR (Non-synonymous Enriched Coding muTation ARchive; http://nectarmutation.org) is a database and web application to annotate disease-related and functionally important amino acids in human proteins. A number of tools are available to facilitate the interpretation of DNA variants identified in diagnostic or research sequencing. These typically identify previous reports of DNA variation at a given genomic location, predict its effects on transcript and protein sequence and may predict downstream functional consequences. Previous reports and functional annotations are typically linked by the genomic location of the variant observed. NECTAR collates disease-causing variants and functionally important amino acid residues from a number of sources. Importantly, rather than simply linking annotations by a shared genomic location, NECTAR annotates variants of interest with details of previously reported variation affecting the same codon. This provides a much richer data set for the interpretation of a novel DNA variant. NECTAR also identifies functionally equivalent amino acid residues in evolutionarily related proteins (paralogues) and, where appropriate, transfers annotations between them. As well as accessing these data through a web interface, users can upload batches of variants in variant call format (VCF) for annotation on-the-fly. The database is freely available to download from the ftp site: ftp://ftp.nectarmutation.org.

  5. A pathway-centric approach to rare variant association analysis

    Science.gov (United States)

    Richardson, Tom G; Timpson, Nicholas J; Campbell, Colin; Gaunt, Tom R

    2017-01-01

    Current endeavours in rare variant analysis are typically underpowered when investigating association signals from individual genes. We undertook an approach to rare variant analysis which utilises biological pathway information to analyse functionally relevant genes together. Conventional filtering approaches for rare variant analysis are based on variant consequence and are therefore confined to coding regions of the genome. Therefore, we undertook a novel approach to this process by obtaining functional annotations from the Combined Annotation Dependent Depletion (CADD) tool, which allowed potentially deleterious variants from intronic regions of genes to be incorporated into analyses. This work was undertaken using whole-genome sequencing data from the UK10K project. Rare variants from the KEGG pathway for arginine and proline metabolism were collectively associated with systolic blood pressure (P=3.32x10−5) based on analyses using the optimal sequence kernel association test. Variants along this pathway also showed evidence of replication using imputed data from the Avon Longitudinal Study of Parents and Children cohort (P=0.02). Subsequent analyses found that the strength of evidence diminished when analysing genes in this pathway individually, suggesting that they would have been overlooked in a conventional gene-based analysis. Future studies that adopt similar approaches to investigate polygenic effects should yield value in better understanding the genetic architecture of complex disease. PMID:27577545

  6. Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.

    Science.gov (United States)

    Dinckan, N; Du, R; Petty, L E; Coban-Akdemir, Z; Jhangiani, S N; Paine, I; Baugh, E H; Erdem, A P; Kayserili, H; Doddapaneni, H; Hu, J; Muzny, D M; Boerwinkle, E; Gibbs, R A; Lupski, J R; Uyguner, Z O; Below, J E; Letra, A

    2018-01-01

    Tooth agenesis is a common craniofacial abnormality in humans and represents failure to develop 1 or more permanent teeth. Tooth agenesis is complex, and variations in about a dozen genes have been reported as contributing to the etiology. Here, we combined whole-exome sequencing, array-based genotyping, and linkage analysis to identify putative pathogenic variants in candidate disease genes for tooth agenesis in 10 multiplex Turkish families. Novel homozygous and heterozygous variants in LRP6, DKK1, LAMA3, and COL17A1 genes, as well as known variants in WNT10A, were identified as likely pathogenic in isolated tooth agenesis. Novel variants in KREMEN1 were identified as likely pathogenic in 2 families with suspected syndromic tooth agenesis. Variants in more than 1 gene were identified segregating with tooth agenesis in 2 families, suggesting oligogenic inheritance. Structural modeling of missense variants suggests deleterious effects to the encoded proteins. Functional analysis of an indel variant (c.3607+3_6del) in LRP6 suggested that the predicted resulting mRNA is subject to nonsense-mediated decay. Our results support a major role for WNT pathways genes in the etiology of tooth agenesis while revealing new candidate genes. Moreover, oligogenic cosegregation was suggestive for complex inheritance and potentially complex gene product interactions during development, contributing to improved understanding of the genetic etiology of familial tooth agenesis.

  7. Identification of copy number variants in horses

    KAUST Repository

    Doan, R.

    2012-03-01

    Copy number variants (CNVs) represent a substantial source of genetic variation in mammals. However, the occurrence of CNVs in horses and their subsequent impact on phenotypic variation is unknown. We performed a study to identify CNVs in 16 horses representing 15 distinct breeds (Equus caballus) and an individual gray donkey (Equus asinus) using a whole-exome tiling array and the array comparative genomic hybridization methodology. We identified 2368 CNVs ranging in size from 197 bp to 3.5 Mb. Merging identical CNVs from each animal yielded 775 CNV regions (CNVRs), involving 1707 protein- and RNA-coding genes. The number of CNVs per animal ranged from 55 to 347, with median and mean sizes of CNVs of 5.3 kb and 99.4 kb, respectively. Approximately 6% of the genes investigated were affected by a CNV. Biological process enrichment analysis indicated CNVs primarily affected genes involved in sensory perception, signal transduction, and metabolism. CNVs also were identified in genes regulating blood group antigens, coat color, fecundity, lactation, keratin formation, neuronal homeostasis, and height in other species. Collectively, these data are the first report of copy number variation in horses and suggest that CNVs are common in the horse genome and may modulate biological processes underlying different traits observed among horses and horse breeds.

  8. AS REPRESENTAÇÕES SOCIAIS DE NAMORO E CASAMENTO EM ADOLESCENTES

    OpenAIRE

    Schwetter, Thais

    2006-01-01

    Este trabalho procura identificar as representações sociais das relações amorosas em adolescentes. A partir da constituição de processos identitários contextualizados no mundo contemporâneo, cuja influência delineia-se sob o prisma do consumismo, da tecnologia e da força midiática, os adolescentes constroem suas representações do namoro, da variante deste o ficar e do casamento. A pesquisa empírica procedeu-se através de entrevistas semidiretivas individuais em um grupo de ...

  9. Hemes férricos pentacoordenados e hexacoordenados dos monômeros d nativo e reconstituído da hemoglobina extracelular de Glossoscolex paulistus: estudos espectroscópicos em meio ácido Pentacoordinate and hexacoordinate ferric hemes from the native and reconstituted d monomers of Glossoscolex paulistus extracellular hemoglobin: spectroscopic studies in acid medium

    Directory of Open Access Journals (Sweden)

    Julio C. Ribelatto

    2005-10-01

    Full Text Available UV-Vis and fluorescence spectroscopic studies of the native and reconstituted d monomers of Glossoscolex paulistus were performed in acid medium. The coexistence of distinct species shows the complexity of the equilibria. Besides the hexacoordinate low spin hemichrome, with bands at 535 and 565 nm, a pentacoordinate high spin hemichrome is identified by the blue-shifted low intensity Soret band (371 nm and the LMCT band (643 nm. The pentacoordinate hemichrome must be related to the partial unfolding of the polypeptide.

  10. Levantamento dos métodos de análise de hemoglobina glicada utilizados em laboratórios da Serra Gaúcha = Survey on methods of analysis of glicated hemoglobin used by laboratories from Serra Gaúcha

    Directory of Open Access Journals (Sweden)

    Panarotto, Daniel

    2005-01-01

    Conclusões: A maioria dos laboratórios não utiliza métodos certificados pela NGSP. Nesses casos, os resultados não podem ser diretamente relacionados com os do estudo Diabetes Control and Complications Trial (DCCT

  11. Functional characterization of 21 allelic variants of dihydropyrimidinase.

    Science.gov (United States)

    Hishinuma, Eiji; Akai, Fumika; Narita, Yoko; Maekawa, Masamitsu; Yamaguchi, Hiroaki; Mano, Nariyasu; Oda, Akifumi; Hirasawa, Noriyasu; Hiratsuka, Masahiro

    2017-11-01

    Dihydropyrimidinase (DHP, EC 3.5.2.2), encoded by the gene DPYS, is the second enzyme in the catabolic pathway of pyrimidine and of fluoropyrimidine drugs such as 5-fluorouracil, which are commonly used in anticancer treatment; DHP catalyzes the hydrolytic ring opening of dihydrouracil and dihydro-5-fluorouracil. DPYS mutations are known to contribute to interindividual variations in the toxicity of fluoropyrimidine drugs, but the functional characterization of DHP allelic variants remains inadequate. In this study, in vitro analysis was performed on 22 allelic variants of DHP by transiently expressing wild-type DHP and 21 DHP variants in 293FT cells and characterizing their enzymatic activities by using dihydrouracil and dihydro-5-fluorouracil as substrates. DHP expression levels and oligomeric forms were determined using immunoblotting and blue native PAGE, respectively, and the stability of the DHP variants was assessed by examining the proteins in variant-transfected cells treated with cycloheximide or bortezomib. Moreover, three kinetic parameters, Km, Vmax, and intrinsic clearance (Vmax/Km), for the hydrolysis of dihydrouracil and dihydro-5-fluorouracil were determined. We found that 5/21 variants showed significantly decreased intrinsic clearance as compared to wild-type DHP, and that 9/21 variants were expressed at low levels and were inactive due to proteasome-mediated degradation. The band patterns observed in the immunoblotting of blue native gels corresponded to DHP activity, and, notably, 18/21 DHP variants exhibited decreased or null enzymatic activity and these variants also showed a drastically reduced ability to form large oligomers. Thus, detection of DPYS genetic polymorphisms might facilitate the prediction severe adverse effects of fluoropyrimidine-based treatments. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Robust and Powerful Affected Sibpair Test for Rare Variant Association.

    Science.gov (United States)

    Lin, Keng-Han; Zöllner, Sebastian

    2015-07-01

    Advances in DNA sequencing technology facilitate investigating the impact of rare variants on complex diseases. However, using a conventional case-control design, large samples are needed to capture enough rare variants to achieve sufficient power for testing the association between suspected loci and complex diseases. In such large samples, population stratification may easily cause spurious signals. One approach to overcome stratification is to use a family-based design. For rare variants, this strategy is especially appropriate, as power can be increased considerably by analyzing cases with affected relatives. We propose a novel framework for association testing in affected sibpairs by comparing the allele count of rare variants on chromosome regions shared identical by descent to the allele count of rare variants on nonshared chromosome regions, referred to as test for rare variant association with family-based internal control (TRAFIC). This design is generally robust to population stratification as cases and controls are matched within each sibpair. We evaluate the power analytically using general model for effect size of rare variants. For the same number of genotyped people, TRAFIC shows superior power over the conventional case-control study for variants with summed risk allele frequency f < 0.05; this power advantage is even more substantial when considering allelic heterogeneity. For complex models of gene-gene interaction, this power advantage depends on the direction of interaction and overall heritability. In sum, we introduce a new method for analyzing rare variants in affected sibpairs that is robust to population stratification, and provide freely available software. © 2015 WILEY PERIODICALS, INC.

  13. Hemoglobin Variants in Northern Thailand: Prevalence, Heterogeneity and Molecular Characteristics.

    Science.gov (United States)

    Panyasai, Sitthichai; Fucharoen, Goonnapa; Fucharoen, Supan

    2016-01-01

    There are limited data on hemoglobin (Hb) variants among peoples of northern Thailand. Hence, we determined the prevalence of Hb variants among a large cohort from this region. A study was done on 23,914 subjects recruited from eight provinces during June 2012-January 2014. Hb was analyzed by high performance liquid chromatography (HPLC) and capillary electrophoresis, and corresponding mutations were identified by polymerase chain reaction. Among 23,914 subjects examined, 211 (0.88%) were found to carry 14 different Hb variants. Five α-globin chain variants were identified: Hb Q-Thailand (n = 40; 19.0%), Hb Hekinan (n = 8, 3.8%), Hb Siam (n = 2, 0.9%), Hb Beijing (n = 1, 0.5%), and Hb Kawachi (n = 1, 0.5%), not previously described in the Thai population. Seven β-globin variants, including Hb Hope, Hb Tak, Hb S, Hb J-Bangkok, Hb G-Makassar, Hb C, and Hb Korle-Bu, were found in 115 (54.5%), 30 (14.2%), 3 (1.4%), 3 (1.4%), 1 (0.5%), 1 (0.5%), and 1 (0.5%) subjects, respectively. The remaining five subjects (2.4%) were carriers of two different δ-globin chain variants. A different spectrum and frequencies of Hb variants were noted compared to other geographical areas. Haplotype analysis demonstrated multiple origins for Hbs Hope and Tak and confirmed a non-African origin of Hb C. Several genetic interactions between these variants with other hemoglobinopathies were encountered. Associated hematological phenotypes and novel Hb derivatives formed were presented. The prevalence and molecular heterogeneities of the Hb variants found in this large cohort of the northern Thai people's should prove useful in developing a screening program, and for the performance of additional population genetics studies of hemoglobinopathy in the region.

  14. FONTANELA ANTERIOR PERSISTENTE – PATOLÓGICO OU VARIANTE DO NORMAL?

    Directory of Open Access Journals (Sweden)

    Alícia Ribeiro

    2016-07-01

    Comentários: Oencerramentoda FAfoidefinidoporAisenson, na população americana, até aos 26 meses em 100% dos casos e em 90% entre os 7 e os 19 meses. Outros autores (Acheson e Jefferson referem que a idade média clínica de encerramento da FA é 16,3 meses no sexo masculino e 18,8 meses no sexo feminino. No caso apresentado a FA persistente e isolada numa criança sem outros achados patológicos, aspeto reiterado pela anamnese e exame objetivo detalhados, bem como pelos exames subsidiários realizados, permitiram concluir estarmos perante uma variante do normal preconizando-se apenas vigilância clínica. Para o atraso fisiológico do seu encerramento parece contribuir uma alteração das características da camada mesenquimatosa entre a dura mater e o periósteo. Apesar de estarem descritos casos com necessidade de plastia da FA, esta reserva-se a casos de maior dimensão. Os pais devem ser tranquilizados e informados acerca deste encerramento tardio e da inexistência de patologia subjacente.

  15. Methyl 2-Benzamido-2-(1<em>H>-benzimidazol-1-ylmethoxyacetate

    Directory of Open Access Journals (Sweden)

    Alami Anouar

    2012-09-01

    Full Text Available The heterocyclic carboxylic α-aminoester methyl 2-benzamido-2-(1<em>H>-benzimidazol-1-ylmethoxyacetate is obtained by <em>O>-alkylation of methyl α-azido glycinate <em>N>-benzoylated with 1<em>H>-benzimidazol-1-ylmethanol.

  16. Estudo da distribuição dos casos de Diabetes Mellitus em Presidente Prudente – SP

    Directory of Open Access Journals (Sweden)

    L. N. ORTEGA

    2009-01-01

    Full Text Available

    As complicações crônicas são as principais responsáveis pela morbimortalidade dos pacientes com Diabetes Mellitus. Sintomas depressivos estão relacionados a um controle glicêmico pior e conseqüente piora na qualidade de vida. O objetivo do presente estudo foi verificar a ocorrência do Diabetes Mellitus em uma Unidade Básica de Saúde do município de Presidente Prudente – SP, em indivíduos cadastrados no Programa Hiper/Dia do Serviço Municipal de Saúde local. Foi realizado um estudo descritivo, no período de outubro de 2003 a julho de 2004. Os dados foram obtidos através dos prontuários e questionário específicos, de 50 portadores de diabetes. A maioria dos pacientes era do sexo feminino, não tinha o ensino fundamental completo e a renda familiar inferior a cinco salários mínimos. A referência de ocorrência de depressão era de 24% e a dieta alimentar nunca era realizada por 76% dos pacientes. O tratamento farmacológico foi prescrito para 82% dos mesmos. Os medicamentos mais utilizados foram os hipoglicemiantes orais. A hemoglobina glicada foi realizada em 68% dos pacientes. Vinte e oito deles, faziam acompanhamento psicológico, representando 56% da amostra. Não houve diferença estatisticamente significante em relação a depressão e adesão ao tratamento (p= 0,40. Verificou-se associação não-significativa entre acompanhamento psicológico e controle glicêmico (p= 0,40, adesão à dieta alimentar (p= 0,37 e prática de atividade física (p= 0,77. Conclui-se que 24% dos pacientes apresentava depressão, a maioria não fazia dieta alimentar e a terapia medicamentosa foi prescrita para 82% deles. Palavras-chave: Diabetes Mellitus; depressão; índice glicêmico.

  17. Sedação e analgesia em colonoscopia eletiva: propofol-fentanil versus propofol-alfentanil

    Directory of Open Access Journals (Sweden)

    Hacer Şebnem Türk

    2013-08-01

    Full Text Available JUSTIFICATIVA E OBJETIVO: Sedação e analgesia são recomendadas em colonoscopia para propiciar conforto, pois são procedimentos invasivos e podem ser dolorosos. Este estudo teve como objetivo comparar as combinações de propofol-alfentanil e propofol-fentanil para sedação e analgesia em pacientes submetidos à colonoscopia eletiva. MÉTODOS: Estudo prospectivo e randomizado. Participaram do estudo 80 pacientes, ASA I-II, entre 18 e 65 anos. A indução de sedação e a analgesia foram feitas com propofol (1 mg.kg-1 e fentanil (1 µg.kg-1 no grupo propofol-fentanil (PF e com propofol (1 mg.kg-1 e alfentanil (10 µg.kg-1 no grupo propofol-alfentanil (PA. Para manutenção, doses adicionais de propofol foram administradas em bolus de 0,5 mg.kg-1 para obter escores de 3-4 na Escala de Sedação de Ramsey (ESR. Registrados os dados demográficos, a frequência cardíaca, a pressão arterial média (PAM, a saturação de oxigênio da hemoglobina (SpO2, os valores da ESR, o tempo de colonoscopia, a dose total de propofol, as complicações, o tempo de recuperação e o tempo para alta, bem como os escores de satisfação do colonoscopista e do paciente. RESULTADOS: A PAM aos 15 minutos no Grupo PA foi significativamente maior do que no Grupo PF (p = 0,037. A frequência cardíaca média do grupo PA foi maior no início do que nas mensurações subsequentes (p = 0,012, p = 0,002. A média da dose total de propofol do Grupo PA foi significativamente maior do que a do Grupo PF (p = 0,028. O tempo médio de recuperação do grupo PA foi significativamente maior do que o do grupo PF (p = 0,032. CONCLUSÃO: Fentanil proporciona melhores condições de operação e reduz a necessidade de doses adicionais de propofol. Essas vantagens diminuem o tempo de recuperação. Portanto, propofol-fentanil é superior ao propofol-alfentanil para sedação e analgesia em colonoscopia.

  18. Valor preditivo de exames pré-operatórios em facectomias Predictive value of preoperative tests in facectomy

    Directory of Open Access Journals (Sweden)

    Rodrigo Pessoa Cavalcanti Lira

    2003-04-01

    Full Text Available OBJETIVO: Determinar a prevalência de resultados anormais numa rotina de exames pré-operatórios para facectomias e sua influência na ocorrência de complicações clínicas perioperatórias. MÉTODOS: Estudo prospectivo desenvolvido em um centro médico acadêmico no Brasil, com uma amostra de 746 pacientes, selecionados entre indicados para cirurgia de catarata. Para todos os pacientes foram solicitados eletrocardiograma, hemograma completo e glicemia de jejum, além de uma avaliação clínica. Foram excluídos do estudo pacientes com menos de 40 anos de idade, pacientes submetidos previamente à cirurgia ocular, pacientes com indicação de anestesia geral, ou pacientes que sofreram infarto agudo do miocárdio até três meses antes da cirurgia. Eventos médicos intra-operatórios foram registrados numa ficha de protocolo. Para análise, utilizou-se do teste de Fisher e análise de variância (ANOVA. RESULTADOS: Na amostra de 746 pacientes, 405 (54,3% eram homens. A idade média foi de 66,6±11,6 anos. Ocorreram complicações intra-operatórias em 71 (9,5% pacientes. Houve resultados anormais em 13,5% (101 pacientes das dosagens de hemoglobina e em 16,6% (124 das dosagens de glicemia de jejum. Em relação aos eletrocardiogramas, foram constatadas anormalidades em 46,6% (348 dos indivíduos. Houve maior prevalência de eletrocardiogramas com anormalidades em pacientes com complicações clínicas perioperatórias (p=0,02. Não existiu diferença estatisticamente significativa nas dosagens de hemoglobina (14,0±1,6 g/dL em pacientes sem complicações intra-operatórias e 14,3±1,3 g/dL em pacientes com complicações - p=0,150 e nas de glicemia de jejum (104±29 mg/dL em pacientes sem complicações e 105±41 mg/dL em pacientes com complicações - p=0,850. CONCLUSÕES: Dentro da rotina investigada de exames pré-operatórios para facectomia, apenas os resultados anormais presentes no eletrocardiograma estiveram associados à ocorr

  19. Identification of a novel alpha1-antitrypsin variant

    Directory of Open Access Journals (Sweden)

    Camille de Seynes

    2017-01-01

    We report the identification of a novel alpha1-antitrypsin variant in a 64-year old woman presenting with dyspnea on exertion. Imaging revealed bilateral bronchiectasis associated with moderate panacinar emphysema. The pulmonary function tests (PFTs were subnormal but hypoxemia was noticed and A1AT quantitative analysis revealed a severe deficiency. DNA sequencing showed compound heterozygosity for the PIZ variant and a novel missense variant p.Phe232Leu (p.Phe208Leu. No specific treatment was proposed since PFTs were within the normal range at this stage of the disease. Close follow-up of pulmonary and hepatic parameters was recommended.

  20. De Novo Coding Variants Are Strongly Associated with Tourette Disorder

    DEFF Research Database (Denmark)

    Willsey, A Jeremy; Fernandez, Thomas V; Yu, Dongmei

    2017-01-01

    Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186...... trios from the Tourette Syndrome Association International Consortium on Genetics (511 total). We observe strong and consistent evidence for the contribution of de novo likely gene-disrupting (LGD) variants (rate ratio [RR] 2.32, p = 0.002). Additionally, de novo damaging variants (LGD and probably...

  1. Glycosylation of Vanillin and 8-Nordihydrocapsaicin by Cultured <em>Eucalyptus perrinianaem> Cells

    Directory of Open Access Journals (Sweden)

    Naoji Kubota

    2012-05-01

    Full Text Available Glycosylation of vanilloids such as vanillin and 8-nordihydrocapsaicin by cultured plant cells of <em>Eucalyptus perrinianaem> was studied. Vanillin was converted into vanillin 4-<em>O>-b-D-glucopyranoside, vanillyl alcohol, and 4-<em>O>-b-D-glucopyranosylvanillyl alcohol by <em>E. perriniana em>cells. Incubation of cultured <em>E. perrinianaem> cells with 8-nor- dihydrocapsaicin gave 8-nordihydrocapsaicin 4-<em>O>-b-D-glucopyranoside and 8-nordihydro- capsaicin 4-<em>O>-b-D-gentiobioside.

  2. A specimen of <em>Sorex> cfr. <em>samniticus> in Barn Owl's pellets from Murge plateau (Apulia, Italy / Su di un <em>Sorex> cfr. <em>samniticus> (Insectivora, Soricidae rinvenuto in borre di <em>Tyto albaem> delle Murge (Puglia, Italia

    Directory of Open Access Journals (Sweden)

    Giovanni Ferrara

    1992-07-01

    Full Text Available Abstract In a lot of Barn Owl's pellets from the Murge plateau a specimen of <em>Sorex> sp. was detected. Thank to some morphological and morphometrical features, the cranial bones can be tentatively attributed to <em>Sorex samniticusem> Altobello, 1926. The genus <em>Sorex> was not yet included in the Apulia's fauna southwards of the Gargano district; the origin and significance of the above record is briefly discussed, the actual presence of a natural population of <em>Sorex> in the Murge being not yet proved. Riassunto Viene segnalato il rinvenimento di un esemplare di <em>Sorex> cfr. <em>samniticus> da borre di <em>Tyto albaem> delle Murge. Poiché il genere non era stato ancora segnalato nella Puglia a sud del Gargano, viene discusso il significato faunistico del reperto.

  3. Hierarchical generalized linear models for multiple groups of rare and common variants: jointly estimating group and individual-variant effects.

    Directory of Open Access Journals (Sweden)

    Nengjun Yi

    2011-12-01

    Full Text Available Complex diseases and traits are likely influenced by many common and rare genetic variants and environmental factors. Detecting disease susceptibility variants is a challenging task, especially when their frequencies are low and/or their effects are small or moderate. We propose here a comprehensive hierarchical generalized linear model framework for simultaneously analyzing multiple groups of rare and common variants and relevant covariates. The proposed hierarchical generalized linear models introduce a group effect and a genetic score (i.e., a linear combination of main-effect predictors for genetic variants for each group of variants, and jointly they estimate the group effects and the weights of the genetic scores. This framework includes various previous methods as special cases, and it can effectively deal with both risk and protective variants in a group and can simultaneously estimate the cumulative contribution of multiple variants and their relative importance. Our computational strategy is based on extending the standard procedure for fitting generalized linear models in the statistical software R to the proposed hierarchical models, leading to the development of stable and flexible tools. The methods are illustrated with sequence data in gene ANGPTL4 from the Dallas Heart Study. The performance of the proposed procedures is further assessed via simulation studies. The methods are implemented in a freely available R package BhGLM (http://www.ssg.uab.edu/bhglm/.

  4. Hierarchical generalized linear models for multiple groups of rare and common variants: jointly estimating group and individual-variant effects.

    Science.gov (United States)

    Yi, Nengjun; Liu, Nianjun; Zhi, Degui; Li, Jun

    2011-12-01

    Complex diseases and traits are likely influenced by many common and rare genetic variants and environmental factors. Detecting disease susceptibility variants is a challenging task, especially when their frequencies are low and/or their effects are small or moderate. We propose here a comprehensive hierarchical generalized linear model framework for simultaneously analyzing multiple groups of rare and common variants and relevant covariates. The proposed hierarchical generalized linear models introduce a group effect and a genetic score (i.e., a linear combination of main-effect predictors for genetic variants) for each group of variants, and jointly they estimate the group effects and the weights of the genetic scores. This framework includes various previous methods as special cases, and it can effectively deal with both risk and protective variants in a group and can simultaneously estimate the cumulative contribution of multiple variants and their relative importance. Our computational strategy is based on extending the standard procedure for fitting generalized linear models in the statistical software R to the proposed hierarchical models, leading to the development of stable and flexible tools. The methods are illustrated with sequence data in gene ANGPTL4 from the Dallas Heart Study. The performance of the proposed procedures is further assessed via simulation studies. The methods are implemented in a freely available R package BhGLM (http://www.ssg.uab.edu/bhglm/).

  5. Hemocidinas derivadas da hemoglobina: estruturas, propriedades e perspectivas

    Directory of Open Access Journals (Sweden)

    Larissa A. C. Carvalho

    2013-01-01

    Full Text Available The increasing incidence of microbial infections, high toxicity, and high level of resistance associated with conventional antibiotics has created a need for new drugs. Antimicrobial peptides (AMPs constitute a promising alternative and/or an important source of knowledge given their ability to inhibit the growth and/or to kill bacteria, fungi, parasites and/or viruses through mechanisms of action different from those of non-peptide drugs. This review focused on this important class of organic compounds that includes hemocidins resulting from hemoglobin proteolysis in vivo and in vitro or from chemical synthesis, subject of research in foreign and Brazilian laboratories.

  6. Reporte de un probable caso de Hemoglobina S / Talasemia Beta

    Directory of Open Access Journals (Sweden)

    John Ramírez Cuentas

    2004-07-01

    Full Text Available We report the case of a patient with Hemoglobin S / Thalassemia. It is feasible to recognize this infrequent disease by its clinical presentation and the aid of clinical laboratory . On this patient, the diagnosis was established based on the clinical findings, hematological evaluation (with careful observation of the red cell morphology and reticulocyte count and electrophoretic analysis of hemoglobin. We discusse the physiopathology, clinical manifestations, treatment and alternative of prevention of this disease. (Rev Med Hered 2004;15:173-178.

  7. Reporte de un probable caso de Hemoglobina S / Talasemia Beta.

    OpenAIRE

    RAMÍREZ CUENTAS, John; LIZAMA OLAYA, Olga; MARTÍNEZ LA ROSA, Josilú; JHONG OLIVERA, Mercy; SALAZAR LINDO, Eduardo

    2013-01-01

    We report the case of a patient with Hemoglobin S / Thalassemia. It is feasible to recognize this infrequent disease by its clinical presentation and the aid of clinical laboratory . On this patient, the diagnosis was established based on the clinical findings, hematological evaluation (with careful observation of the red cell morphology and reticulocyte count) and electrophoretic analysis of hemoglobin. We discusse the physiopathology, clinical manifestations, treatment and alternative of pr...

  8. Study of the <em>in Vitroem> Antiplasmodial, Antileishmanial and Antitrypanosomal Activities of Medicinal Plants from Saudi Arabia

    Directory of Open Access Journals (Sweden)

    Nawal M. Al-Musayeib

    2012-09-01

    Full Text Available The present study investigated the <em>in vitroem> antiprotozoal activity of sixteen selected medicinal plants. Plant materials were extracted with methanol and screened <em>in vitroem> against erythrocytic schizonts of <em>Plasmodium falciparumem>, intracellular amastigotes of <em>Leishmania infantum em>and <em>Trypanosoma cruzi em>and free trypomastigotes of<em> T. bruceiem>. Cytotoxic activity was determined against MRC-5 cells to assess selectivity<em>. em>The criterion for activity was an IC50 < 10 µg/mL (4. Antiplasmodial activity was found in the<em> em>extracts of<em> em>>Prosopis julifloraem> and <em>Punica granatumem>. Antileishmanial activity<em> em>against <em>L. infantumem> was demonstrated in <em>Caralluma sinaicaem> and <em>Periploca aphylla.em> Amastigotes of<em> T. cruzi em>were affected by the methanol extract of<em> em>>Albizia lebbeckem>> em>pericarp, <em>Caralluma sinaicaem>,> Periploca aphylla em>and <em>Prosopius julifloraem>. Activity against<em> T. brucei em>was obtained in<em> em>>Prosopis julifloraem>. Cytotoxicity (MRC-5 IC50 < 10 µg/mL and hence non-specific activities were observed for<em> em>>Conocarpus lancifoliusem>.>

  9. Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia.

    Science.gov (United States)

    Sivley, R Michael; Sheehan, Jonathan H; Kropski, Jonathan A; Cogan, Joy; Blackwell, Timothy S; Phillips, John A; Bush, William S; Meiler, Jens; Capra, John A

    2018-01-23

    Next-generation sequencing of individuals with genetic diseases often detects candidate rare variants in numerous genes, but determining which are causal remains challenging. We hypothesized that the spatial distribution of missense variants in protein structures contains information about function and pathogenicity that can help prioritize variants of unknown significance (VUS) and elucidate the structural mechanisms leading to disease. To illustrate this approach in a clinical application, we analyzed 13 candidate missense variants in regulator of telomere elongation helicase 1 (RTEL1) identified in patients with Familial Interstitial Pneumonia (FIP). We curated pathogenic and neutral RTEL1 variants from the literature and public databases. We then used homology modeling to construct a 3D structural model of RTEL1 and mapped known variants into this structure. We next developed a pathogenicity prediction algorithm based on proximity to known disease causing and neutral variants and evaluated its performance with leave-one-out cross-validation. We further validated our predictions with segregation analyses, telomere lengths, and mutagenesis data from the homologous XPD protein. Our algorithm for classifying RTEL1 VUS based on spatial proximity to pathogenic and neutral variation accurately distinguished 7 known pathogenic from 29 neutral variants (ROC AUC = 0.85) in the N-terminal domains of RTEL1. Pathogenic proximity scores were also significantly correlated with effects on ATPase activity (Pearson r = -0.65, p = 0.0004) in XPD, a related helicase. Applying the algorithm to 13 VUS identified from sequencing of RTEL1 from patients predicted five out of six disease-segregating VUS to be pathogenic. We provide structural hypotheses regarding how these mutations may disrupt RTEL1 ATPase and helicase function. Spatial analysis of missense variation accurately classified candidate VUS in RTEL1 and suggests how such variants cause disease. Incorporating

  10. In vitro generation of somaclonal variant plants of sugarcane for tolerance to Fusarium sacchari.

    Science.gov (United States)

    Mahlanza, Tendekai; Rutherford, R Stuart; Snyman, Sandy J; Watt, M Paula

    2013-02-01

    KEY MESSAGE : A combination of in vitro culture and mutagenesis using ethyl methanesulfonate (EMS) followed by culture filtrate-mediated selection produced variant sugarcane plants tolerant and resistant to Fusarium sacchari. Eldana saccharina is a destructive pest of the sugarcane crop in South Africa. Fusarium sacchari PNG40 (a fungal strain harmful to E. saccharina) has the potential to be an endophytic biological control agent of the stalk borer. However, the fungus causes Fusarium stalk rot in sugarcane. In the current study, sugarcane plants tolerant and resistant to F. sacchari PNG40 were produced by exposing embryogenic calli to the chemical mutagen ethyl methanesulfonate (EMS), followed by in vitro selection during somatic embryogenesis and plantlet regeneration on media containing F. sacchari culture filtrates (CF). The incorporation of 100 ppm CF in the culture media at the embryo maturation stage, at germination, or at both, resulted in callus necrosis and consequent reduced plantlet yield. Subsequent trimming of the roots of regenerated plants and their exposure to 1,500 ppm CF served as a further selection treatment. Plants produced from EMS-treated calli displayed improved root re-growth in the presence of CF pressure compared with those from non-treated calli. The tolerance of CF-selected plants was confirmed in greenhouse tests by inoculation with F. sacchari PNG40, re-isolation of Fusarium spp. from undamaged tissue of asymptomatic plants and establishment of the identity of fungal isolates as PNG40 using molecular analysis. The restriction of PNG40 presence to the inoculation lesion in some plants suggested their resistance to the fungus. Genotypes exhibiting symptomless endophytic colonization by PNG40 were identified and will be utilised for testing biological control strategies against E. saccharina.

  11. Two variants of minimum discarded fill ordering

    Energy Technology Data Exchange (ETDEWEB)

    D' Azevedo, E.F. (Oak Ridge National Lab., TN (USA)); Forsyth, P.A.; Tang, Wei-Pai (Waterloo Univ., ON (Canada). Dept. of Computer Science)

    1991-01-01

    It is well known that the ordering of the unknowns can have a significant effect on the convergence of Preconditioned Conjugate Gradient (PCG) methods. There has been considerable experimental work on the effects of ordering for regular finite difference problems. In many cases, good results have been obtained with preconditioners based on diagonal, spiral or natural row orderings. However, for finite element problems having unstructured grids or grids generated by a local refinement approach, it is difficult to define many of the orderings for more regular problems. A recently proposed Minimum Discarded Fill (MDF) ordering technique is effective in finding high quality Incomplete LU (ILU) preconditioners, especially for problems arising from unstructured finite element grids. Testing indicates this algorithm can identify a rather complicated physical structure in an anisotropic problem and orders the unknowns in the preferred'' direction. The MDF technique may be viewed as the numerical analogue of the minimum deficiency algorithm in sparse matrix technology. At any stage of the partial elimination, the MDF technique chooses the next pivot node so as to minimize the amount of discarded fill. In this work, two efficient variants of the MDF technique are explored to produce cost-effective high-order ILU preconditioners. The Threshold MDF orderings combine MDF ideas with drop tolerance techniques to identify the sparsity pattern in the ILU preconditioners. These techniques identify an ordering that encourages fast decay of the entries in the ILU factorization. The Minimum Update Matrix (MUM) ordering technique is a simplification of the MDF ordering and is closely related to the minimum degree algorithm. The MUM ordering is especially for large problems arising from Navier-Stokes problems. Some interesting pictures of the orderings are presented using a visualization tool. 22 refs., 4 figs., 7 tabs.

  12. Índices de aptidão funcional em jogadores de futebol da Seleção Nacional da Jamaica

    Directory of Open Access Journals (Sweden)

    Paulo Roberto Santos Silva

    1999-06-01

    Full Text Available O principal objetivo deste estudo foi mostrar alguns índices de aptidão funcional em 24 jogadores de futebol da Seleção Nacional da Jamaica, com média de idade de 23,9 ± 3,7 anos, equipe pré-classificada para a Copa do Mundo da França. Todos os atletas foram submetidos a uma bateria de testes que constou de: 1 avaliação da potência, resistência muscular e o índice de fadiga no teste de Wingate, realizado numa bicicleta computadorizada da marca Cybex, modelo Bike; 2 teste isocinético computadorizado de membros inferiores no equipamento da marca Cybex, modelo 1200; 3 avaliação da flexibilidade pelo teste de Wells e Dillon; 4 exames laboratoriais; e 5 avaliação odontológica, realizada através de exames clínicos num consultório da marca Funk modelo MLX Plus. Os seguintes parâmetros e os resultados encontrados foram: Wingate: potência pico corrigida pelo peso = 11,8 ± 1,8w.kg-1; potência média = 9,1 ± 1,2w.kg-1; índice de fadiga = 46,2 ± 15,2%; Flexibilidade = 19,8 ± 4,6cm; Exames laboratoriais: urina tipo I; fezes; hemoglobina = 14,3 ± 1,0g%; ferro = 104 ± 29ng/dl; ferritina = 81,8 ± 41,7ng/dl; transferrina = 502,5 ± 113,5ug/dl; hematócrito = 43,5 ± 2,9%; eritrócitos = 4,95 ± 0,40 milhões/m³; glicose = 91,0 ± 8,5mg/dl; Avaliação odontológica: tártaro em 5 (21%; cáries em 24 (100%; gengivites em 10 (42%; endodontia em 3 (12,5%; pulpites em 1 (4%; diastema em 2 (8%; heterotópicos em 13 (54%; extrações realizadas em 14 (58%; extrações não realizadas em 4 (17%; obturações em 4 (17%; próteses em 16 (67%; a profilaxia estava sendo feita em 17 (71% dos atletas examinados; Desempenho isocinético: torque de MMII direito a 60°S-1 na extensão = 290,4 ± 95,6Nm; na flexão = 216,1 ± 31,4Nm; torque de MMII esquerdo a 60°S-1 na extensão = 291,6 ± 62,5Nm; na flexão = 205,8 ± 35,8Nm. CONCLUSÃO: Apesar da falta de estrutura tecnológica do futebol jamaicano, os resultados demonstraram que os

  13. Structure of chymotrypsin variant B from Atlantic cod, Gadus morhua

    DEFF Research Database (Denmark)

    Leth-Larsen, Rikke; Asgeirsson, B; Thórólfsson, M

    1996-01-01

    The amino-acid sequence of chymotrypsin variant B isolated from the pyloric caeca of Atlantic cod has been elucidated. The characterization of the primary structure is based on N-terminal Edman degradation and mass spectrometry of the native protein and enzymatically derived peptides. Chymotrypsin...... variant B showed 72% sequence identity with the A-variant and 64% and 62%, respectively, with the bovine counterparts A and B, all consisting of 245 amino acids. This new sequence contains a higher proportion of charged residues compared with bovine chymotrypsin but fewer polar hydrogen-bond forming...... side-chains may contribute to the maintenance of flexibility at low temperatures. Several amino-acid sequence differences adjacent to the catalytic site are observed in the two cod chymotrypsin variants which also differ in kinetic properties. Unlike the mammalian chymotrypsins, which contain several...

  14. Common Gene Variants Account for Most Genetic Risk for Autism

    Science.gov (United States)

    ... gene variants account for most genetic risk for autism Roles of heritability, mutations, environment estimated – NIH-funded study. The bulk of risk, or liability, for autism spectrum disorders (ASD) was traced to inherited variations ...

  15. Infectious Bronchitis Virus Variants: Molecular Analysis and Pathogenicity Investigation

    Directory of Open Access Journals (Sweden)

    Shu-Yi Lin

    2017-09-01

    Full Text Available Infectious bronchitis virus (IBV variants constantly emerge and pose economic threats to poultry farms worldwide. Numerous studies on the molecular and pathogenic characterization of IBV variants have been performed between 2007 and 2017, which we have reviewed herein. We noted that viral genetic mutations and recombination events commonly gave rise to distinct IBV genotypes, serotypes and pathotypes. In addition to characterizing the S1 genes, full viral genomic sequencing, comprehensive antigenicity, and pathogenicity studies on emerging variants have advanced our understanding of IBV infections, which is valuable for developing countermeasures against IBV field outbreaks. This review of IBV variants provides practical value for understanding their phylogenetic relationships and epidemiology from both regional and worldwide viewpoints.

  16. cyvcf2: fast, flexible variant analysis with Python.

    Science.gov (United States)

    Pedersen, Brent S; Quinlan, Aaron R

    2017-06-15

    Variant call format (VCF) files document the genetic variation observed after DNA sequencing, alignment and variant calling of a sample cohort. Given the complexity of the VCF format as well as the diverse variant annotations and genotype metadata, there is a need for fast, flexible methods enabling intuitive analysis of the variant data within VCF and BCF files. We introduce cyvcf2 , a Python library and software package for fast parsing and querying of VCF and BCF files and illustrate its speed, simplicity and utility. bpederse@gmail.com or aaronquinlan@gmail.com. cyvcf2 is available from https://github.com/brentp/cyvcf2 under the MIT license and from common python package managers. Detailed documentation is available at http://brentp.github.io/cyvcf2/.

  17. Genotype and phenotype spectrum of NRAS germline variants

    NARCIS (Netherlands)

    Altmuller, F.; Lissewski, C.; Bertola, D.; Flex, E.; Stark, Z.; Spranger, S.; Baynam, G.; Buscarilli, M.; Dyack, S.; Gillis, J.; Yntema, H.G.; Pantaleoni, F.; Loon, R.L. van; MacKay, S.; Mina, K.; Schanze, I.; Tan, T.Y.; Walsh, M.; White, S.M.; Niewisch, M.R.; Garcia-Minaur, S.; Plaza, D.; Ahmadian, M.R.; Cave, H.; Tartaglia, M.; Zenker, M.

    2017-01-01

    RASopathies comprise a group of disorders clinically characterized by short stature, heart defects, facial dysmorphism, and varying degrees of intellectual disability and cancer predisposition. They are caused by germline variants in genes encoding key components or modulators of the highly

  18. Genotype and phenotype spectrum of NRAS germline variants

    National Research Council Canada - National Science Library

    Altmuller, F; Lissewski, C; Bertola, D; Flex, E; Stark, Z; Spranger, S; Baynam, G; Buscarilli, M; Dyack, S; Gillis, J; Yntema, H.G; Pantaleoni, F; Loon, R.L. van; MacKay, S; Mina, K; Schanze, I; Tan, T.Y; Walsh, M; White, S.M; Niewisch, M.R; Garcia-Minaur, S; Plaza, D; Ahmadian, M.R; Cave, H; Tartaglia, M; Zenker, M

    2017-01-01

    .... Germline changes in the genes encoding members of the RAS subfamily of GTPases are rare and associated with variable phenotypes of the RASopathy spectrum, ranging from Costello syndrome (HRAS variants...

  19. variant formula for predicting peak expiratory flow rate in pregnant ...

    African Journals Online (AJOL)

    DR. AMINU

    Accepted: November, 2009. VARIANT FORMULA FOR PREDICTING PEAK EXPIRATORY FLOW RATE IN. PREGNANT WOMEN IN KURA LOCAL GOVERNMENT AREA, KANO STATE,. NIGERIA. A. I. Salisu. Department of Human Physiology, Faculty of Medicine, Bayero University, Kano salisahmedibrahim@yahoo.co.uk;.

  20. Leapfrog variants of iterative methods for linear algebra equations

    Science.gov (United States)

    Saylor, Paul E.

    1988-01-01

    Two iterative methods are considered, Richardson's method and a general second order method. For both methods, a variant of the method is derived for which only even numbered iterates are computed. The variant is called a leapfrog method. Comparisons between the conventional form of the methods and the leapfrog form are made under the assumption that the number of unknowns is large. In the case of Richardson's method, it is possible to express the final iterate in terms of only the initial approximation, a variant of the iteration called the grand-leap method. In the case of the grand-leap variant, a set of parameters is required. An algorithm is presented to compute these parameters that is related to algorithms to compute the weights and abscissas for Gaussian quadrature. General algorithms to implement the leapfrog and grand-leap methods are presented. Algorithms for the important special case of the Chebyshev method are also given.

  1. HD-CNV: hotspot detector for copy number variants

    National Research Council Canada - National Science Library

    Butler, Jenna L; Osborne Locke, Marjorie Elizabeth; Hill, Kathleen A; Daley, Mark

    2013-01-01

    ... (hotspot detector for copy number variants) is a tool for downstream analysis of previously identified CNV regions from multiple samples, and it detects recurrent regions by finding cliques in an interval graph generated from the input...

  2. vipR: variant identification in pooled DNA using R

    National Research Council Canada - National Science Library

    Altmann, Andre; Weber, Peter; Quast, Carina; Rex-Haffner, Monika; Binder, Elisabeth B; Müller-Myhsok, Bertram

    2011-01-01

    .... Thus, recently, screens for rare sequence variants were carried out in samples of pooled DNA, in which equimolar amounts of DNA from multiple individuals are mixed prior to sequencing with HTS...

  3. Method of generating ploynucleotides encoding enhanced folding variants

    Energy Technology Data Exchange (ETDEWEB)

    Bradbury, Andrew M.; Kiss, Csaba; Waldo, Geoffrey S.

    2017-05-02

    The invention provides directed evolution methods for improving the folding, solubility and stability (including thermostability) characteristics of polypeptides. In one aspect, the invention provides a method for generating folding and stability-enhanced variants of proteins, including but not limited to fluorescent proteins, chromophoric proteins and enzymes. In another aspect, the invention provides methods for generating thermostable variants of a target protein or polypeptide via an internal destabilization baiting strategy. Internally destabilization a protein of interest is achieved by inserting a heterologous, folding-destabilizing sequence (folding interference domain) within DNA encoding the protein of interest, evolving the protein sequences adjacent to the heterologous insertion to overcome the destabilization (using any number of mutagenesis methods), thereby creating a library of variants. The variants in the library are expressed, and those with enhanced folding characteristics selected.

  4. Anatomic variant of the median nerve in the carpal tunnel.

    Science.gov (United States)

    Steinberg, E L; Luger, E; Taitz, C; Arensburg, B

    1998-07-01

    Forty-six hands of 23 cadavers (15 female and 8 male) were dissected to observe the patterns of distribution of the median nerve. The findings showed that in 33 hands the median nerve had a normal distribution of its branches. Also identified was the commonly recognized transligamentous variant, where the recurrent branch pierces the carpal ligament 2 to 4 mm proximal to the distal end of the carpal tunel. This latter variant occurred in 13 hands. The current study focused on the presence of an additional variant, not previously identified, that occurred in 10 hands. This branch, considered sensory, was approximately 1 mm wide and pierced the lateral carpal ligament 3 to 6 mm distal to the proximal edge of the tunnel. The importance of recognition of variants of median nerve distribution in surgery of the carpal tunnel is emphasized.

  5. Pharyngeal-Cervical-Brachial Variant of Guillain-Barre Syndrome

    OpenAIRE

    J Gordon Millichap; John J Millichap

    2014-01-01

    Investigators from National University Hospital, Singapore, review the clinical features of 13 cases of pharyngeal-cervical-brachial (PCB) variant of Guillain-Barre syndrome (GBS) and outline new diagnostic criteria.

  6. Disintegrating perineal disease: A variant of watering-can perineum

    OpenAIRE

    N. Abrol; Devasia, A.

    2014-01-01

    Watering-can perineum is a known complication of inflammatory urethral stricture disease. We report a case of disintegrating perineal disease, a fulminant variant of watering-can perineum, in an immunocompetent patient.

  7. Genetic variant as a marker for bladder cancer therapy

    Science.gov (United States)

    Patients who have inherited a specific common genetic variant develop bladder cancer tumors that strongly express a protein known as prostate stem cell antigen (PSCA), which is also expressed in many pancreatic and prostate tumors, according to research a

  8. Association of Genetic Variants of Milk Proteins with Milk Production ...

    African Journals Online (AJOL)

    Administrator

    Aschaffenburg & Drewry,. 1955; 1957) researchers have become interested in the genetic polymorphism of milk proteins. It is known today that there are at least 39 genetic variants of six milk protein fractions (Eigel et al., 1984; Bouniol et al.,.

  9. Detection of combined genomic variants in a Jordanian family with ...

    Indian Academy of Sciences (India)

    TSHR) gene was performed by direct sequencing of genomic DNA extracted from peripheral blood leukocytes of all family members. The sequence analysis of all TSHR gene exons and intron borders revealed two genomic variants. The first ...

  10. Variant Plasmodium ovale isolated from a patient infected in Ghana

    Directory of Open Access Journals (Sweden)

    Petersen Eskild

    2011-01-01

    Full Text Available Abstract Recent data have found that Plasmodium ovale can be separated in two distinct species: classic and variant P. ovale based on multilocus typing of different genes. This study presents a P. ovale isolate from a patient infected in Ghana together with an analysis of the small subunit RNA, cytochrome b, cytochrome c oxidase I, cysteine protease and lactate dehydrogenase genes, which show that the sample is a variant P. ovale and identical or highly similar to variant P. ovale isolated from humans in South-East Asia and Africa, and from a chimpanzee in Cameroon. The split between the variant and classic P. ovale is estimated to have occurred 1.7 million years ago.

  11. <em>In Vivoem> Histamine Optical Nanosensors

    Directory of Open Access Journals (Sweden)

    Heather A. Clark

    2012-08-01

    Full Text Available In this communication we discuss the development of ionophore based nanosensors for the detection and monitoring of histamine levels <em>in vivoem>. This approach is based on the use of an amine-reactive, broad spectrum ionophore which is capable of recognizing and binding to histamine. We pair this ionophore with our already established nanosensor platform, and demonstrate <em>in vitroem> and <em>in vivoem> monitoring of histamine levels. This approach enables capturing rapid kinetics of histamine after injection, which are more difficult to measure with standard approaches such as blood sampling, especially on small research models. The coupling together of <em>in vivoem> nanosensors with ionophores such as nonactin provide a way to generate nanosensors for novel targets without the difficult process of designing and synthesizing novel ionophores.

  12. Prevalence of Titin Truncating Variants in General Population.

    Directory of Open Access Journals (Sweden)

    Oyediran Akinrinade

    Full Text Available Truncating titin (TTN mutations, especially in A-band region, represent the most common cause of dilated cardiomyopathy (DCM. Clinical interpretation of these variants can be challenging, as these variants are also present in reference populations. We carried out systematic analyses of TTN truncating variants (TTNtv in publicly available reference populations, including, for the first time, data from Exome Aggregation Consortium (ExAC. The goal was to establish more accurate estimate of prevalence of different TTNtv to allow better clinical interpretation of these findings.Using data from 1000 Genomes Project, Exome Sequencing Project (ESP and ExAC, we estimated the prevalence of TTNtv in the population. In the three population datasets, 52-54% of TTNtv were not affecting all TTN transcripts. The frequency of truncations affecting all transcripts in ExAC was 0.36% (0.32% - 0.41%, 95% CI and 0.19% (0.16% - 0.23%, 95% CI for those affecting the A-band. In the A-band region, the prevalences of frameshift, nonsense and essential splice site variants were 0.057%, 0.090%, and 0.047% respectively. Cga/Tga (arginine/nonsense-R/* transitional change at CpG mutation hotspots was the most frequent type of TTN nonsense mutation accounting for 91.3% (21/23 of arginine residue nonsense mutation (R/* at TTN A-band region. Non-essential splice-site variants had significantly lower proportion of private variants and higher proportion of low-frequency variants compared to essential splice-site variants (P = 0.01; P = 5.1 X 10-4, respectively.A-band TTNtv are more rare in the general population than previously reported. Based on this analysis, one in 500 carries a truncation in TTN A-band suggesting the penetrance of these potentially harmful variants is still poorly understood, and some of these variants do not manifest as autosomal dominant DCM. This calls for caution when interpreting TTNtv in individuals and families with no history of DCM. Considering the

  13. Androgen Receptor Splice Variants and Resistance to Taxane Chemotherapy

    Science.gov (United States)

    2017-10-01

    AWARD NUMBER: W81XWH-14-1-0480 TITLE: Androgen Receptor Splice Variants and Resistance to Taxane Chemotherapy PRINCIPAL INVESTIGATOR...Splice Variants and Resistance to Taxane Chemotherapy 5a. CONTRACT NUMBER 5b. GRANT NUMBER W81XWH-14-1-0480 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S...During this reporting period, we have obtained approval for a no-cost extension of this award and change of research focus in the final year. This

  14. HIV-1 genetic variants in the Russian Far East.

    Science.gov (United States)

    Kazennova, Elena; Laga, Vita; Lapovok, Ilya; Glushchenko, Nataliya; Neshumaev, Dmitry; Vasilyev, Alexander; Bobkova, Marina

    2014-08-01

    A molecular analysis of HIV-1 subtypes and recombinants circulating in cities in the Russian Far East was performed. The study included samples from 201 outpatients from Vladivostok, Khabarovsk, and Blagoveshchensk. In most parts of Russia, patients are infected with HIV-1 subtype A, known as the IDU-A variant. Subtype B, including the IDU-B variant, is rare in Russia but widespread in the Ukraine, and the CRF02_AG is prevalent in Central Asian countries and Siberia, Russia. One of the challenges of this study in the Far East was to determine whether the molecular landscape of HIV infection in this region is influenced by the bordering countries, including China and Japan, where a distinct set of HIV subtypes is circulating, such as B', C, and CRF01_AE. The distribution of HIV-1 genetic variants in the cities studied was as follows: subtype A (IDU-A), 55.7%; subtype B, 25.3% (IDU-B variant-24.3%); subtype C, 10.0%; CRF02_AG, 1.5%; and CRF63_02A1, 7.5%. A phylogenetic analysis confirmed the relationship of subtype A viruses with the IDU-A variant predominating in Ukraine, Russia and other former Soviet Union (FSU) countries, of subtype B viruses with IDU-B in the Ukraine and of CRF02_AG variants with variants in Uzbekistan, Russia, and other former USSR countries. Subtype C sequences were not uniform, and most clustered between each other and HIV-1 sequences originating from Africa; there was only one sample possibly related to Chinese variants. Thus, despite close cultural and commercial relationships among Russia, China, and Japan, the distribution of HIV-1 subtypes in the Russian Far East is still primarily influenced by contacts with the countries of the former USSR.

  15. Histone variant innovation in a rapidly evolving chordate lineage

    Directory of Open Access Journals (Sweden)

    Jansen Pascal WTC

    2011-07-01

    Full Text Available Abstract Background Histone variants alter the composition of nucleosomes and play crucial roles in transcription, chromosome segregation, DNA repair, and sperm compaction. Modification of metazoan histone variant lineages occurs on a background of genome architecture that shows global similarities from sponges to vertebrates, but the urochordate, Oikopleura dioica, a member of the sister group to vertebrates, exhibits profound modification of this ancestral architecture. Results We show that a histone complement of 47 gene loci encodes 31 histone variants, grouped in distinct sets of developmental expression profiles throughout the life cycle. A particularly diverse array of 15 male-specific histone variants was uncovered, including a testes-specific H4t, the first metazoan H4 sequence variant reported. Universal histone variants H3.3, CenH3, and H2A.Z are present but O. dioica lacks homologs of macroH2A and H2AX. The genome encodes many H2A and H2B variants and the repertoire of H2A.Z isoforms is expanded through alternative splicing, incrementally regulating the number of acetylatable lysine residues in the functionally important N-terminal "charge patch". Mass spectrometry identified 40 acetylation, methylation and ubiquitylation posttranslational modifications (PTMs and showed that hallmark PTMs of "active" and "repressive" chromatin were present in O. dioica. No obvious reduction in silent heterochromatic marks was observed despite high gene density in this extraordinarily compacted chordate genome. Conclusions These results show that histone gene complements and their organization differ considerably even over modest phylogenetic distances. Substantial innovation among all core and linker histone variants has evolved in concert with adaptation of specific life history traits in this rapidly evolving chordate lineage.

  16. Stress Induced Cardiomyopathy with Midventricular Ballooning: A Rare Variant

    OpenAIRE

    Muhammad Umer Siddiqui; Michael C. Desiderio; Nicholas Ricculli; Arthur Rusovici

    2015-01-01

    Stress cardiomyopathy (SCM) also referred to as the ?broken heart syndrome? is a condition in which intense emotional or physical stress can cause fulminant and reversible cardiac muscle weakness. SCM most commonly involves the apical segment of left ventricle but newer and rare variants have recently been seen reported. We here report a case of rare midventricular variant of stress related cardiomyopathy. A 72-year-old female with past medical history, only significant for SVT, presented wit...

  17. A variante vos e o ensino de espanhol: algumas reflexões sobre o trabalho docente e materiais didáticos=The variant vos and spanish teaching: some reflections on teaching and courseware

    Directory of Open Access Journals (Sweden)

    Andréia Cristina Roder Carmona

    2012-07-01

    Full Text Available As reflexões sobre um cenário multicultural, no contexto escolar, são importantes no desenvolvimento do ensino/aprendizagem da Língua Estrangeira, pois abarcarão os fatores históricos e sociais de um povo e, consequentemente, a sua cultura. Desse modo, nesta pesquisa apresentamos algumas considerações sobre o trabalho de um grupo de professores de espanhol - língua estrangeira com o objetivo de descobrir se esse grupo de docentes pesquisados utiliza, apresenta (ou não e discute em suas aulas a variante linguística voseo. Para tanto, como metodologia de trabalho utilizamos o enfoque etnográfico que trata a relação língua/sociedade, na perspectiva virtual e real de sistematizar estudos sobre variantes linguísticas. É também objetivo deste artigo oferecer importantes contribuições para os docentes, pois, a partir do conhecimento sobre variantes linguísticas o professor e, principalmente seu aluno, aprenderá mais sobre tolerância frente às diferenças culturais.In school context, reflections on a multicultural setting are important in the development of the foreign language teaching / learning process, because they will cover the historical and social factors of a community and therefore their culture. Thus, this research presents some considerations about the work of a group of teachers of Spanish as a foreign language in order to find out if this group of teachers uses, presents (or not and discusses in their classes the voseo linguistic variant . In order to achieve these goals, the methodology of research was based on the ethnographic approach that deals with the relationship language / society, with a virtual and real perspective of systematizing linguistic studies about variants. This article also aims at providing important contributions to the teachers, since based on the awareness of language variants, the teacher, and especially their students, will learn more about tolerance from cultural differences.

  18. ANALGESIA TRANSOPERATÓRIA INDUZIDA PELA MORFINA OU MEPERIDINA EM GATOS SUBMETIDOS A OSTEOSSÍNTESE

    Directory of Open Access Journals (Sweden)

    Cunha João Marcelo Caldeira Cardoso Pinto da

    2002-01-01

    Full Text Available O objetivo do presente estudo foi avaliar a qualidade da analgesia proporcionada pela morfina e meperidina em gatos acometidos por processos traumáticos e submetidos a osteossíntese. Para tanto, foram utilizados 18 animais distribuídos em dois grupos: o grupo I recebeu acepromazina (0,2mg/kg e meperidina (4,0mg/kg, ambos pela via intramuscular; a indução anestésica foi realizada através da administração de quetamina (3,0mg/kg e midazolam (0,3mg/kg ambos pela via intravenosa, e a manutenção da anestesia foi efetuada com o auxílio de 100% de oxigênio e halotano. Os animais do grupo II foram pré-tratados com acepromazina (0,2mg/kg e morfina (0,2mg/kg, ambos pela via intramuscular e posteriormente foram submetidos ao mesmo tratamento proposto no grupo I. Foram avaliados: freqüência cardíaca e respiratória, pressão arterial sistólica, saturação da oxi-hemoglobina, concentração de dióxido de carbono no ar expirado, concentração inspirada e expirada do halotano, no período pré, trans, e pós-operatório. Concluiu-se que os fármacos opióides empregados apresentam propriedades adequadas para a utilização na medicação pré-anestésica de gatos que serão submetidos a procedimentos ortopédicos, uma vez que não foram observados sinais de depressão cardiovascular nem respiratória e a recuperação foi tranqüila e isenta de fenômenos excitatórios.

  19. Chemical Composition<em> em>of Hexane Extract of <em>Citrus aurantifoliaem> and<em> em>Anti->Mycobacterium tuberculosisem> Activity of Some of Its Constituents

    OpenAIRE

    Sandoval-Montemayor, Nallely E.; Abraham García; Elizabeth Elizondo-Treviño; Elvira Garza-González; Laura Alvarez; María del Rayo Camacho-Corona

    2012-01-01

    The main aim of this study was to isolate and characterize the active compounds from the hexane extract of the fruit peels of <em>Citrus aurantiifoliaem>, which showed activity against one sensitive and three monoresistant (isoniazid, streptomycin or ethambutol) strains of <em>Mycobacterium tuberculosis em>H37Rv. The active extract was fractionated by column chromatography, yielding the following major compounds: 5-geranyloxypsoralen (

  20. Variants affecting exon skipping contribute to complex traits.

    Directory of Open Access Journals (Sweden)

    Younghee Lee

    Full Text Available DNA variants that affect alternative splicing and the relative quantities of different gene transcripts have been shown to be risk alleles for some Mendelian diseases. However, for complex traits characterized by a low odds ratio for any single contributing variant, very few studies have investigated the contribution of splicing variants. The overarching goal of this study is to discover and characterize the role that variants affecting alternative splicing may play in the genetic etiology of complex traits, which include a significant number of the common human diseases. Specifically, we hypothesize that single nucleotide polymorphisms (SNPs in splicing regulatory elements can be characterized in silico to identify variants affecting splicing, and that these variants may contribute to the etiology of complex diseases as well as the inter-individual variability in the ratios of alternative transcripts. We leverage high-throughput expression profiling to 1 experimentally validate our in silico predictions of skipped exons and 2 characterize the molecular role of intronic genetic variations in alternative splicing events in the context of complex human traits and diseases. We propose that intronic SNPs play a role as genetic regulators within splicing regulatory elements and show that their associated exon skipping events can affect protein domains and structure. We find that SNPs we would predict to affect exon skipping are enriched among the set of SNPs reported to be associated with complex human traits.

  1. Prebiotic Competition between Information Variants, With Low Error Catastrophe Risks

    Directory of Open Access Journals (Sweden)

    Radu Popa

    2015-07-01

    Full Text Available During competition for resources in primitive networks increased fitness of an information variant does not necessarily equate with successful elimination of its competitors. If variability is added fast to a system, speedy replacement of pre-existing and less-efficient forms of order is required as novel information variants arrive. Otherwise, the information capacity of the system fills up with information variants (an effect referred as “error catastrophe”. As the cost for managing the system’s exceeding complexity increases, the correlation between performance capabilities of information variants and their competitive success decreases, and evolution of such systems toward increased efficiency slows down. This impasse impedes the understanding of evolution in prebiotic networks. We used the simulation platform Biotic Abstract Dual Automata (BiADA to analyze how information variants compete in a resource-limited space. We analyzed the effect of energy-related features (differences in autocatalytic efficiency, energy cost of order, energy availability, transformation rates and stability of order on this competition. We discuss circumstances and controllers allowing primitive networks acquire novel information with minimal “error catastrophe” risks. We present a primitive mechanism for maximization of energy flux in dynamic networks. This work helps evaluate controllers of evolution in prebiotic networks and other systems where information variants compete.

  2. Update on lichen planus and its clinical variants.

    Science.gov (United States)

    Weston, Gillian; Payette, Michael

    2015-08-01

    Lichen planus (LP) is an inflammatory skin condition with characteristic clinical and histopathological findings. Classic LP typically presents as pruritic, polygonal, violaceous flat-topped papules and plaques; many variants in morphology and location also exist, including oral, nail, linear, annular, atrophic, hypertrophic, inverse, eruptive, bullous, ulcerative, lichen planus pigmentosus, lichen planopilaris, vulvovaginal, actinic, lichen planus-lupus erythematosus overlap syndrome, and lichen planus pemphigoides. Clinical presentation of the rarer variant lesions may be largely dissimilar to classic LP and therefore difficult to diagnose based solely on clinical examination. However, histopathological examination of LP and LP-variant lesions reveal similar features, aiding in the proper diagnosis of the disease. Management of LP and LP variants aims to control symptoms and to decrease time from onset to resolution; it often involves topical corticosteroids, but varies depending on the severity and location of the lesion. The literature contains an array of reports on the variations in presentation and successful management of LP and its variants. A familiarity with LP and its variants is important in achieving timely recognition and management of the disease.

  3. [Hemoglobin variants in Colombian patients referred to discard hemoglobinopathies].

    Science.gov (United States)

    Romero-Sánchez, Consuelo; Gómez Gutiérrez, Alberto; Duarte, Yurani; Amazo, Constanza; Manosalva, Clara; Chila M, Lorena; Casas-Gómez, María Consuelo; Briceño Balcázar, Ignacio

    2015-10-01

    Oxygen transport is altered in hemoglobinopathies. To study the distribution of hemoglobinopathies in Andean subjects without African ancestry. We analyzed blood samples of 1,407 subjects aged 18 to 59 years (58% females), living in the central Andean region of Colombia, referred to discard hemoglobinopathies. The frequency and type of hemoglobinopathy was established by capillary and agarose gel electrophoresis. The frequency of hemoglobinopathies was 34.5% and higher among females. The structural variants found were: AS-heterozygous hemoglobin (8.1%), homozygous SS (3.7%), heterozygous SC (2.2%), AC heterozygotes (0.5%) and heterozygous AE (0.3%). Quantitative variants found were Hb A-Beta thalassemia (13.91%) and Hb H (0.06%), Beta-thalassemia heterozygotes C (0.88%), S-Beta thalassemia heterozygotes (6.07%) and compound heterozygous SC/Beta thalassemia (0.25%), with a persistence of fetal hemoglobin 0. Composite thalassemia was also found in 31%. All techniques showed good correlation and capillary electrophoresis demonstrated a greater detection of hemoglobin variants. The frequency of hemoglobin variants in the analyzed population was high, which is an important public health indicator. The most common hemoglobin variant was HbA/Increased structural Hb A2 and the mos frequent structural hemoglobinopathy was sickle cell trait. Capillary electrophoresis can discern any Hb variants present in the population.

  4. Lightning-fast genome variant detection with GROM.

    Science.gov (United States)

    Smith, Sean D; Kawash, Joseph K; Grigoriev, Andrey

    2017-10-01

    Current human whole genome sequencing projects produce massive amounts of data, often creating significant computational challenges. Different approaches have been developed for each type of genome variant and method of its detection, necessitating users to run multiple algorithms to find variants. We present Genome Rearrangement OmniMapper (GROM), a novel comprehensive variant detection algorithm accepting aligned read files as input and finding SNVs, indels, structural variants (SVs), and copy number variants (CNVs). We show that GROM outperforms state-of-the-art methods on 7 validated benchmarks using 2 whole genome sequencing (WGS) data sets. Additionally, GROM boasts lightning-fast run times, analyzing a 50× WGS human data set (NA12878) on commonly available computer hardware in 11 minutes, more than an order of magnitude (up to 72 times) faster than tools detecting a similar range of variants. Addressing the needs of big data analysis, GROM combines in 1 algorithm SNV, indel, SV, and CNV detection, providing superior speed, sensitivity, and precision. GROM is also able to detect CNVs, SNVs, and indels in non-paired-read WGS libraries, as well as SNVs and indels in whole exome or RNA sequencing data sets. © The Authors 2017. Published by Oxford University Press.

  5. An Efficient Multiple Variants Coordination Framework for Differential Evolution.

    Science.gov (United States)

    Zhang, Sheng Xin; Zheng, Shao Yong; Zheng, Li Ming

    2017-09-01

    Differential evolution (DE) is recognized as a simple but powerful algorithm in the family of evolutionary algorithms. Over the past two decades, many advanced DE variants with significantly improved performance have been proposed. However, the variants may only achieve the best performance on a certain type of functions. Moreover, a specific optimizer may not always be suitable for the whole optimization process. To overcome these weaknesses, this paper proposes a multiple variants coordination (MVC) framework with two mechanisms, namely, the multiple variants adaptive selecting mechanism and the multiple variants adaptive solutions preserving mechanisms (MV-APM). In MVC, the evolution process is divided into nonoverlap segments with equal numbers of generations. Each segment includes the learning generations (LGs) and executing generations (EGs). In LG, all the candidate DE optimizers are utilized independently. The best performing optimizer is determined and then utilized in EG in the same segment. Furthermore, MV-APM maintains the population by adaptively preserving promising solutions generated by multiple optimizers. Numerical experiments on the CEC2014 benchmark suit show that the proposed MVC framework can significantly improve the performance of the baseline algorithms and the resulted algorithm significantly outperform the start-of-the-art and up-to-date DEs. Moreover, as a general framework, MVC can also be applied to coordinate multiple improved DE variants to further enhance their performance.

  6. Comprometimento sensório-motor dos membros inferiores em diabéticos do tipo 2

    Directory of Open Access Journals (Sweden)

    Silvia Regina Barrile

    Full Text Available INTRODUÇÃO: A alta incidência do Diabetes mellitus (DM na população torna essa patologia alvo de muitas pesquisas. Uma das complicações do DM é a neuropatia periférica crônica caracterizada por atrofia e degeneração axonal e/ou alteração da célula de Schwann. A fisioterapia atua na estimulação da regeneração da fibra nervosa, o que reduz o risco de desenvolvimento do pé diabético. OBJETIVO: Identificar o comprometimento da sensibilidade nos membros inferiores (MMII de diabéticos e verificar fatores que contribuíram para o desenvolvimento do pé diabético, como glicemia, hemoglobina glicada (HbA1c, tempo de diagnóstico, pressão arterial e antropometria. MATERIAIS E MÉTODOS: Os diabéticos foram avaliados na Associação dos Diabéticos de Bauru, participaram de entrevista e foram submetidos a antropometria, triagem pressórica e teste neurossensorial no Sistema Pontuação Clínica Toronto (SPCT. RESULTADOS: Os 68 pacientes (61,76% mulheres e 38,23% homens tinham 62,93 ± 9,64 anos, apresentaram pressão sistólica de 132,54 ± 17,95 mmHg e diastólica 80,39 ± 11,35 mmHg, índice de massa corpórea 30,34 ± 5,80 kg/m², glicemia 149,20 ± 60,37mg/dL, HbA1c 7,72 ± 1,4%; tempo de diagnóstico de um a 34 anos. Dentre eles, 80,88% apresentavam sobrepeso; 72,06%, hipertensão arterial; 42,64%, dislipidemia; 14,7%, problemas renais; e 17,64%, vasculares. Pelo SPCT, 97,05% apresentavam neuropatia, 95,59% com simetria. Na avaliação, 57,35% apresentavam alteração sensitiva protetora; 60,29%, sensibilidade térmica; 26,47%, tátil; 17,64%, vibratória; 7,35%, dolorosa; e 1,47%, alteração cinestésica. Nos pés, 72,05% apresentavam pele ressecada; 64,70%, fissuras; 54,41%, calosidade; e 44,11%, micose; 50% referiram dor; 39,7%, dormência; 41,17%, parestesia; 27,94%, ataxia. Reflexos estavam ausentes ou diminuídos em 14,71% dos indivíduos; desses, 38,23% no Aquileu. Observou-se correlação positiva entre o SPCT com a

  7. Natural Products from Antarctic Colonial Ascidians of the Genera <em>Aplidium> and <em>Synoicum>: Variability and Defensive Role

    Directory of Open Access Journals (Sweden)

    Conxita Avila

    2012-08-01

    Full Text Available Ascidians have developed multiple defensive strategies mostly related to physical, nutritional or chemical properties of the tunic. One of such is chemical defense based on secondary metabolites. We analyzed a series of colonial Antarctic ascidians from deep-water collections belonging to the genera <em>Aplidium> and <em>Synoicum> to evaluate the incidence of organic deterrents and their variability. The ether fractions from 15 samples including specimens of the species <em>A.> <em>falklandicum>, <em>A.> <em>fuegiense>, <em>A.> <em>meridianum>, <em>A.> <em>millari> and <em>S.> <em>adareanum> were subjected to feeding assays towards two relevant sympatric predators: the starfish <em>Odontaster> <em>validus>, and the amphipod <em>Cheirimedon> <em>femoratus>. All samples revealed repellency. Nonetheless, some colonies concentrated defensive chemicals in internal body-regions rather than in the tunic. Four ascidian-derived meroterpenoids, rossinones B and the three derivatives 2,3-epoxy-rossinone B, 3-epi-rossinone B, 5,6-epoxy-rossinone B, and the indole alkaloids meridianins A–G, along with other minoritary meridianin compounds were isolated from several samples. Some purified metabolites were tested in feeding assays exhibiting potent unpalatabilities, thus revealing their role in predation avoidance. Ascidian extracts and purified compound-fractions were further assessed in antibacterial tests against a marine Antarctic bacterium. Only the meridianins showed inhibition activity, demonstrating a multifunctional defensive role. According to their occurrence in nature and within our colonial specimens, the possible origin of both types of metabolites is discussed.

  8. Identification and Determination of <em>Aconitum> Alkaloids in <em>Aconitum> Herbs and <em>Xiaohuoluo Pillem> Using UPLC-ESI-MS

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    Li Yang

    2012-08-01

    Full Text Available A rapid, specific, and sensitive ultra-performance liquid chromatography-electrospray ionization-mass spectrometry (UPLC-ESI-MS method to examine the chemical differences between <em>Aconitum> herbs and processed products has been developed and validated. Combined with chemometrics analysis of principal component analysis (PCA and orthogonal projection to latent structural discriminate analysis, diester-diterpenoid and monoester-type alkaloids, especially the five alkaloids which contributed to the chemical distinction between <em>Aconitum> herbs and processed products, namely mesaconitine (MA, aconitine (AC, hypaconitine (HA, benzoylmesaconitine (BMA, and benzoylhypaconitine (BHA, were picked out. Further, the five alkaloids and benzoylaconitine (BAC have been simultaneously determined in the <em>Xiaohuoluo pillem>. Chromatographic separations were achieved on a C18 column and peaks were detected by mass spectrometry in positive ion mode and selected ion recording (SIR mode. In quantitative analysis, the six alkaloids showed good regression, (<em>r> > 0.9984, within the test ranges. The lower limit quantifications (LLOQs for MA, AC, HA, BMA, BAC, and BHA were 1.41, 1.20, 1.92, 4.28, 1.99 and 2.02 ng·mL−1, respectively. Recoveries ranged from 99.7% to 101.7%. The validated method was applied successfully in the analysis of the six alkaloids from different samples, in which significant variations were revealed. Results indicated that the developed assay can be used as an appropriate quality control assay for <em>Xiaohuoluo pillem> and other herbal preparations containing <em>Aconitum> roots.

  9. Cyberbullying em adolescentes brasileiros

    OpenAIRE

    Wendt, Guilherme Welter

    2012-01-01

    O cyberbullying é entendido como uma forma de comportamento agressivo que ocorre através dos meios eletrônicos de interação (computadores, celulares, sites de relacionamento virtual), sendo realizado de maneira intencional por uma pessoa ou grupo contra alguém em situação desigual de poder e, ainda, com dificuldade em se defender. Os estudos disponíveis até o presente momento destacam que o cyberbullying é um fator de risco para o desenvolvimento de sintomas de ansiedade, depressão, ideação s...

  10. Ulisses em Kafka

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    Stéphane Mosès

    2015-02-01

    Full Text Available ResumoEm sua introdução para Exegese de uma lenda, Stéphane Mosès afirma que a obra de Kafka não necessita de novas interpretações, mas sim de uma “análise rigorosa de sua lógica subjacente”. Assim, em “Ulisses em Kafka”, investigandoa dialética formal de “O silêncio das sereias”, Mosès procura expor a estrutura narrativa que comandaria esse breve texto em que o escritor tcheco acrescenta à astucia de Ulisses a ingenuidade como elemento de salvação.Palavras-chave: Kafka; dialética; salvação.AbstractIn his introduction to Exegèse d’une légende, Stéphane Mosès affirms that Kafka’s works are not in need of new interpretations, but rather, of a “rigorous analysis of their underlying logic”. Thus, in “Ulisses chez Kafka”, by investigating the formal dialectic of “Das Schweigen der Sirenen”, Mosès seeks to exhibit the narrative structure that would supposedly guide this short text in which the Czech author adds naïveté to Ulisses’s cunning intelligence as an element of salvation.Keywords: Kafka; dialectic; salvation.Stéphane Mosès foi professor emérito da Universidade Hebraica de Jerusalém, onde ensinou Literatura Alemã e Comparada, entre os seus principais interesses estavam o pensamento de Franz Rosenzweig e de Walter Benjamin e as literaturas de Franz Kafka e de Paul Célan. Autor de diversos livros, entre eles: L'ange de l'histoire. Rosenzweig, Benjamin, Scholem, Exégèse d'une légende, lectures de Kafka, e Rêves de Freud. Six lectures.Rodrigo Ielpo é doutor em literatura francesa pela UFRJ e em História e Semiologia do texto e da imagem pela Université Paris VII, com pós-doutorado em Teoria Literária pela UNICAMP. Professor Adjunto do Departamento de Letras Neolatinas da Universidade Federal do Rio de Janeiro, possui publicações e traduções nos seguintes temas: teoria e literatura francesa contemporâneas, escrita e processos de subjetivação.rodrigoielpo@gmail.com 

  11. Acidose ruminal em caprinos

    OpenAIRE

    Cunha, José Diogo de Oliveira e silva Ribeiro da

    2012-01-01

    Dissertação de Mestrado Integrado em Medicina Veterinária Com este trabalho pretendeu-se fazer uma revisão acerca da acidose ruminal em caprinos, visto haver pouca bibliografia sobre o tema. Este trabalho foi baseado na revisão bibliográfica de artigos científicos e completado através da observação de casos clínicos ocorridos durante o estágio curricular. O objectivo deste estudo foi realizar uma breve revisão da anatomia e fisiologia do tracto gastrointestinal dos caprinos assim com...

  12. Espondiloptose em atleta

    OpenAIRE

    Assad, Ana Paula Luppino; Abreu,Andressa Silva; Seguro, Luciana Parente Costa; Guedes, Lissiane Karine Noronha; Lima, Fernanda Rodrigues; Pinto, Ana Lucia de Sá

    2014-01-01

    Os atletas adolescentes estão sob maior risco de lombalgia e lesões estruturais da coluna. A espondilólise é responsável pela maioria das lombalgias em jovens esportistas e raramente ocorre em adultos. Relatamos o caso de uma paciente de 13 anos, atleta de judô, que chegou a nosso serviço com quadro de cinco meses de lombalgia progressiva durante os treinos, sendo inicialmente atribuída a causas mecânicas, sem que houvesse uma investigação mais detalhada por métodos de imagem. Na admissão já ...

  13. Genetic risk variants for social anxiety.

    Science.gov (United States)

    Stein, Murray B; Chen, Chia-Yen; Jain, Sonia; Jensen, Kevin P; He, Feng; Heeringa, Steven G; Kessler, Ronald C; Maihofer, Adam; Nock, Matthew K; Ripke, Stephan; Sun, Xiaoying; Thomas, Michael L; Ursano, Robert J; Smoller, Jordan W; Gelernter, Joel

    2017-03-01

    Social anxiety is a neurobehavioral trait characterized by fear and reticence in social situations. Twin studies have shown that social anxiety has a heritable basis, shared with neuroticism and extraversion, but genetic studies have yet to demonstrate robust risk variants. We conducted genomewide association analysis (GWAS) of subjects within the Army Study To Assess Risk and Resilience in Servicemembers (Army STARRS) to (i) determine SNP-based heritability of social anxiety; (ii) discern genetic risk loci for social anxiety; and (iii) determine shared genetic risk with neuroticism and extraversion. GWAS were conducted within ancestral groups (EUR, AFR, LAT) using linear regression models for each of the three component studies in Army STARRS, and then meta-analyzed across studies. SNP-based heritability for social anxiety was significant (h2g  = 0.12, P = 2.17 × 10-4 in EUR). One meta-analytically genomewide significant locus was seen in each of EUR (rs708012, Chr 6: BP 36965970, P = 1.55 × 10-8 ; beta = 0.073) and AFR (rs78924501, Chr 1: BP 88406905, P = 3.58 × 10-8 ; beta = 0.265) samples. Social anxiety in Army STARRS was significantly genetically correlated (negatively) with extraversion (rg  = -0.52, se = 0.22, P = 0.02) but not with neuroticism (rg  = 0.05, se = 0.22, P = 0.81) or with an anxiety disorder factor score (rg  = 0.02, se = 0.32, P = 0.94) from external GWAS meta-analyses. This first GWAS of social anxiety confirms a genetic basis for social anxiety, shared with extraversion but possibly less so with neuroticism. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  14. Psychosis in behavioral variant frontotemporal dementia

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    Gossink FT

    2017-04-01

    Full Text Available Flora T Gossink,1,2 Everard GB Vijverberg,2,3 Welmoed Krudop,2 Philip Scheltens,2 Max L Stek,1 Yolande AL Pijnenburg,1,2 Annemiek Dols1,2 1Department of Old Age Psychiatry, GGZinGeest, 2Alzheimer Center & Department of Neurology, VU University Medical Center, Amsterdam, 3Department of Neurology, HagaZiekenhuis, The Hague, the Netherlands Background: Dementia is generally characterized by cognitive impairment that can be accompanied by psychotic symptoms; for example, visual hallucinations are a core feature of dementia with Lewy bodies, and delusions are often seen in Alzheimer’s disease. However, for behavioral variant of frontotemporal dementia (bvFTD, studies on the broad spectrum of psychotic symptoms are still lacking. The aim of this study was to systematically and prospectively subtype the wide spectrum of psychotic symptoms in probable and definite bvFTD.Methods: In this study, a commonly used and validated clinical scale that quantifies the broad spectrum of psychotic symptoms (Positive and Negative Symptom Scale was used in patients with probable and definite bvFTD (n=22 and with a primary psychiatric disorder (n=35 in a late-onset frontal lobe cohort. Median symptom duration was 2.8 years, and the patients were prospectively followed for 2 years.Results: In total, 22.7% of bvFTD patients suffered from delusions, hallucinatory behavior, and suspiciousness, although the majority of the patients exhibited negative psychotic symptoms such as social and emotional withdrawal and blunted affect (95.5% and formal thought disorders (81.8%. “Difficulty in abstract thinking” and “stereotypical thinking” (formal thought disorders differentiated bvFTD from psychiatric disorders. The combined predictors difficulty in abstract thinking, stereotypical thinking, “anxiety”, “guilt feelings,” and “tension” explained 75.4% of variance in the diagnosis of bvFTD versus psychiatric diagnoses (P<0.001.Conclusion: Delusions

  15. Alternative Technical Summary Report: Electrometallurgical Treatment Variant

    Energy Technology Data Exchange (ETDEWEB)

    Gray, L.W.

    1995-11-30

    Immobilization is the fixation of the surplus fissile materials in an acceptable matrix such as glass or ceramics to create an environmentally benign form for disposal in a repository. In addition to the traditional characteristics required of an immobilization form to achieve isolation of the fissile material from the biosphere over geologic times, the immobilization form for the Fissile Materials Disposition Program (FMDP) must also possess the property that it is inherently as unattractive and inaccessible as the fissile material from commercial spent fuel. This latter requirement is similar to the wording of the ''spent fuel standard'' invoked in the National Academy of Sciences (NAS) study on plutonium disposition. High-level wastes (HLW) or separated cesium ({sup 137}Cs), can be added with the fissile material into the waste form to create a radiation field that increases the proliferation resistance and decreases reuse by the host nation in the following ways: (1) Plutonium will be diluted with elements that must be removed by extensive chemical processing to return it to weapons-usable purity; (2) The immobilized plutonium canisters will contain approximately 2 tonnes (2000 kg; 2.2 tons) of mass, thereby forcing the use of heavy equipment to move the canisters; (3) A gamma radiation barrier will be added to the immobilized plutonium canisters; the present concept is to add a radiation barrier that is greater than 1 Gy (100 rad) per hour at 1 m (3 ft) 30 years after fabrication; (4) These canisters will then be sealed in casks and emplaced into drifts in a federal repository where they will be monitored for 100 years before the repository is sealed. This immobilization process is shown conceptually in Figure 1. In the electrometallurgical treatment (ET) variant, plutonium-rich residues are shipped to existing Argonne National Laboratory-West (ANL-W) facilities where the plutonium is converted to plutonium chloride, dissolved in a molten

  16. INTERFERÊNCIAS EM EXAMES LABORATORIAIS: CRITÉRIO DIAGNÓSTICO PARA O DIABETES MELLITUS E PRINCIPAIS FÁRMACOS HIPOGLICEMIANTES

    Directory of Open Access Journals (Sweden)

    Daniela Hisaye KANASHIRO, Flávia Domingues GAMEIRO, Válter Luiz da COSTA JÚNIOR, Alexsandro Macedo SILVA, Luciane Maria RIBEIRO NETO, Reiko Soraya MATSUI, Sandro Jorge JANUÁRIO, Paulo Caleb Júnior de Lima SANTOS

    2013-12-01

    Full Text Available O diabetes mellitus (DM está entre as principais condições crônicas de saúde. O critério diagnóstico atual para o DM propõe os seguintes testes laboratoriais: glicose plasmática em jejum, hemoglobina glicada ou glicosilada, teste oral de tolerância à glicose, frutosamina, insulina, peptídeo C e glucagon. Estes exames laboratoriais podem apresentar interferências de medicamentos, sejam fisiológicas ou analíticas. Na literatura consultada foi possível identificar 30 fármacos ou grupo de fármacos que possuem evidências de interferir nos principais exames de diagnóstico da DM. Ressalta-se que praticamente na sua totalidade estes interferem nos níveis de glicemia, sendo que, 81,5% destes contribuem de forma a aumentar estes valores. Dentre estes fármacos encontram-se MIPs (medicamentos isentos de prescrição, como o paracetamol e o ácido acetilsalicílico, e anti-inflamatórios esteroidais, como a dexametasona e prednisolona, amplamente utilizados na terapêutica medicamentosa. Da mesma forma, os medicamentos empregados no tratamento de pacientes diabéticos incluído na RENAME como insulina NPH (protamina neutra Hagedorn, insulina humana regular, glibenclamida, gliclazida e cloridrato de metformina podem interferir em exames laboratoriais. O diagnóstico precoce e o tratamento adequado se fazem necessários a fim de prevenirem maiores danos aos portadores desta doença complexa sub diagnosticada. Neste contexto, as interferências medicamentosas são importantes achados nos exames laboratoriais que avaliam o DM e devem ser reconhecidas pelos profissionais de saúde envolvidos.

  17. ESTADO NUTRICIONAL DE CRIANÇAS ATENDIDAS EM UMA CRECHE FILANTRÓPICA: ESTUDO LONGITUDINAL DE 6 MESES

    Directory of Open Access Journals (Sweden)

    R. M. S. BARBOSA

    2008-11-01

    Full Text Available

    O objetivo desta pesquisa foi monitorar o estado nutricional de 35 pré-escolares atendidos em uma Creche Filantrópica no Rio de Janeiro, no ato da matrícula e após 6 meses, quanto aos índices antropométricos, ao estado nutricional de ferro e ao consumo alimentar das crianças. Foi realizada avaliação sócio-demográfica através de questionário. A análise de hemoglobina foi determinada através do hemoglobinômetro e para avaliação antropométrica foram coletadas medidas de peso e estatura. A avaliação dietética foi obtida pela história dietética e pelo método de pesagem direta de alimentos, complementada com o consumo alimentar na residência. Posteriormente, foi determinado o Índice de Alimentação Saudável (IAS. Verificou-se que, após 6 meses de freqüência na creche, apenas 22,9% das crianças permaneceram anêmicas, nenhuma criança apresentou déficit de peso/idade e o IAS foi considerado satisfatório (90 e 92,7 escore. A creche teve um impacto positivo no estado nutricional destas crianças.

  18. Anemia e deficiência de ferro em gestantes adolescentes Anemia and iron deficiency in pregnant adolescents

    Directory of Open Access Journals (Sweden)

    Elizabeth FUJIMORI

    2000-12-01

    Full Text Available Por meio de dosagem de ferritina sérica, transferrina sérica, hemoglobina e hematócrito, caracterizou-se o estado nutricional de ferro de 79 gestantes adolescentes de primeira consulta pré-natal (£ 20 semanas de gestação, atendidas na Rede Básica de Saúde de um Município da Grande São Paulo. Todos os valores hematológicos estudados foram menores entre as gestantes do segundo trimestre gestacional em relação às do primeiro, sendo as diferenças estatisticamente significativas (pThe objective of this study was to characterize iron nutritional status of 79 pregnant adolescents, at first prenatal consultation (<= 20 weeks of gestation, in the Primary Health System of a district of Great São Paulo, through the serum ferritin, serum transferrin, hemoglobin and hematocrit determinations. All the hematologic values studied were smaller for the pregnant adolescents in the second gestational trimester than for the ones in the first. Statistically significant differences (p.<.0.05 were found just for hemoglobin. It was verified that 64.3% and 32.1% had, respectively, less than 500.mg and 300.mg of organic iron reservations, and 5.4% presented serious lack of this mineral. By World Health Organization criterion 19.0% of the pregnant women were iron-deficient (Saturation of Transferrin <.16% and 13.9% were anemic (Hemoglobin.<.11 g/dl.

  19. HB D Los Angeles in a Brazilian family Hb D Los Angeles em família brasileira

    Directory of Open Access Journals (Sweden)

    Guilherme G. Leoneli

    2001-09-01

    Full Text Available Inherited disorders of hemoglobin, the most common monogenic disease, are now well understood at the molecular level, knowledge, which has led to considerable improvements in their control and management. The Brazilian population is multiethnic, and the correct characterization of the Hb D is important, mainly because the method available for detection of abnormal hemoglobins, present a migration in the same zone at alkaline pH, for Hb S, D, and G for example. In this paper we studied a family with an abnormal hemoglobin like S in alkaline electrophoresis, by appropriated methods including HPLC and molecular analysis, characterized as hemoglobin D Los Angeles.As doenças hereditária da hemoglobina são as mais comuns doenças monogênicas e atualmente bem conhecidas do ponto de vista molecular, fato este que propiciou um avanço no seu controle e manuseio. A população brasileira caracteriza-se pela multiplicidade étnica e a caracterização da Hb D torna-se importante por este dado, associado ao fato de que os métodos de detecção das hemoglobinopatias comumente não identificam esta fração anormal que apresenta a peculiaridade de migração eletroforéticia em pH alcalino na mesma zona observada nas Hb S e G. Neste relato é apresentado um estudo familiar no qual é empregada metodologia adequada, o HLPC, que permite a identificação da Hb D.

  20. Preferential accumulation of severe variants of Citrus tristeza virus in plants co-inoculated with mild and severe variants.

    Science.gov (United States)

    Sambade, A; Ambrós, S; López, C; Ruiz-Ruiz, S; Hermoso de Mendoza, A; Flores, R; Guerri, J; Moreno, P

    2007-01-01

    The viral population in sweet orange plants, either healthy or pre-inoculated with the asymptomatic isolate of Citrus tristeza virus (CTV) T32, and then graft- or aphid-inoculated with the stem-pitting isolate T318, was characterized with respect to symptom expression, reaction with monoclonal antibody MCA13, single-strand conformation polymorphism (SSCP) of genes p18 and p20, bi-directional RT-PCR, and dot-blot hybridisation. All plants inoculated with T318, with or without pre-inoculation, showed stem pitting, reacted with MCA13, had the SSCP profile characteristic of this isolate, and in bi-directional RT-PCR yielded a 450-bp DNA product associated with severe isolates, indicating that T32 afforded no protection against T318. The latter isolate had two main sequence variants, the minor one of which was indistinguishable from the main T32 sequence, and both were detected in most plants that were graft-inoculated with T318. However, the T32 variant was not detected in plants that were aphid-inoculated only with T318 and also showed stem pitting. This suggested an association of symptoms with the major T318 sequence and preferential transmission of this variant by aphids. The T318-specific variant accumulated more than the T32 variant in plants in which both were replicating, suggesting a higher fitness of the former. Our results clearly emphasize the potential threat of severe CTV variants in areas where mild isolates are presently predominant.

  1. Prevalência e caracterização da anemia em idosos do Programa de Saúde da Família Prevalence and characteristics of anemia in an elderly population attending a Health Family Program

    Directory of Open Access Journals (Sweden)

    Diana L. Barbosa

    2006-12-01

    Full Text Available A anemia é considerada um problema de saúde pública em escala mundial e é o distúrbio hematológico de maior prevalência que acomete a população idosa. O objetivo deste trabalho foi estimar a prevalência e características da anemia em idosos do Programa de Saúde da Família de Camaragibe, PE. O delineamento foi transversal, com amostra aleatória sistemática de 284 idosos > 60 anos, de ambos os sexos, realizado em novembro/dezembro-2003. A anemia foi avaliada pela hemoglobina (Hb, concentração de hemoglobina corpuscular média (CHCM, volume corpuscular médio (VCM e amplitude de distribuição eritrocitária (RDW. A prevalência de anemia foi, em média, de 11,0%. A morfologia eritrocitária não mostrou associação com as concentrações de Hb. A grande maioria dos idosos apresentou anemia normocrômica, normocítica, sem anisocitose, sugestivo de anemia por doença crônica. A ínfima prevalência de microcitose e macrocitose com anisocitoseminimiza a gênese da deficiência de ferro, bem como da deficiência de vitamina B12 e ácido fólico na etiologia da anemia em idosos. Concluímos que o uso de indicadores que reflitam o grau de anisocitose eritrocitária associados àqueles que avaliam o estado nutricional do ferro é extremamente recomendado para o diagnóstico das anemias em idosos.Anemia is a serious public health problem worldwide that mainly affects children and women of childbearing age. However, data about anemia in elderly individuals are still scarce in developing countries. This study aimed at assessing the prevalence and characteristics of anemia among an elderly population attending the Health Family Program in Camaragibe, northeast Brazil. Following a systematic sampling procedure, a cross-sectional study was carried out in November and December 2003 involving 284 subjects of both genders with ages grater than or equal to 60 years old. Anemia was estimated by the measurement of hemoglobin, mean cell hemoglobin

  2. Micronutrientes e capacidade antioxidante em adolescentes sedentários e corredores Micronutrients and antioxidant capacity in sedentary adolescents and runners

    Directory of Open Access Journals (Sweden)

    Karla de Jesus Fernandes de Oliveira

    2007-04-01

    Full Text Available OBJETIVO: Este estudo objetivou comparar a composição corporal, a ingestão dietética, os índices bioquímicos de micronutrientes antioxidantes e a capacidade antioxidante em adolescentes sedentários (n=15 e corredores (n=18, pós-púberes. MÉTODOS: A composição corporal foi aferida por meio das dobras cutâneas, massa corporal total e estatura; a ingestão de micronutrientes foi determinada através de freqüência de consumo alimentar e os indicadores bioquímicos por coleta de sangue em jejum. Em sangue total foram determinados hematócrito e hemoglobina; em plasma, testosterona, alfa-tocoferol, cobre, zinco, e ceruloplasmina; em eritrócitos, fragilidade osmótica, zinco, Cu-Zn superóxido dismutase e metalotioneína. RESULTADOS: A capacidade antioxidante, a ingestão dietética e a composição corporal foram similares, exceto o somatório de dobras cutâneas, que foi menor nos corredores (pOBJECTIVE: The aim of this study was to compare body composition, biochemical indices of antioxidant micronutrients, intake and nutritional status and antioxidant capacity in post-puberty sedentary adolescents (n=15 and runners (n=18. METHODS: Skin-fold measurements, total body mass and height were used for anthropometric evaluation and a food frequency questionnaire for assessment of micronutrient intake. Biochemical indices measured after an overnight fast included: blood hemoglobin and hematocrit; plasma testosterone, a-tocopherol, copper, zinc and ceruloplasmin; and in erythrocytes, osmotic fragility, zinc, Cu-Zn superoxide dismutase and metallothionein. RESULTS: Indices of antioxidant capacity, dietary intake, and body composition were not different between the groups, except for the sum of skin-folds that was lower in runners (p<0.05. Most adolescents had vitamin E intakes lower than nutritional recommendations. Plasma levels of copper and zinc were, on average, adequate. Copper levels were similar in both groups and zinc levels were higher

  3. Efetividade superior do esquema diário de suplementação de ferro em lactentes Efectividad superior del esquema diario de suplementación de hierro en lactantes Greater effectiveness of daily iron supplementation scheme in infants

    Directory of Open Access Journals (Sweden)

    Catarina Machado Azeredo

    2010-04-01

    Full Text Available OBJETIVO: Avaliar a efetividade de esquemas, diário e semanal, de suplementação profilática de ferro medicamentoso na prevenção da anemia ferropriva em lactentes não anêmicos. MÉTODOS: Estudo populacional, prospectivo, de abordagem quantitativa com intervenção profilática, realizado no município de Viçosa, MG, em 2007/8. Foram selecionadas 103 crianças não anêmicas, entre seis e 18 meses de idade, correspondendo a 20,2% das crianças cadastradas e atendidas pelas Equipes de Saúde da Família. As crianças foram divididas em dois grupos de suplementação: dosagem diária recomendada pela Sociedade Brasileira de Pediatria (grupo 1, n=34 e dosagem semanal preconizada pelo Ministério da Saúde (grupo 2, n=69. As avaliações ocorreram no início do estudo e após seis meses, sendo realizadas dosagem de hemoglobina (ß-hemoglobinômetro portátil, avaliação antropométrica e dietética, e aplicação de questionário socioeconômico. Os indicadores de impacto utilizados foram a prevalência de anemia, variação de hemoglobina, adesão e efeitos adversos aos suplementos. RESULTADOS: Os grupos se mostraram homogêneos quanto às variáveis socioeconômicas, biológicas e de saúde anteriores à intervenção. Após seis meses de suplementação, observaram-se maiores médias de hemoglobina no grupo 1 em relação ao grupo 2, (11,66; DP=1,25 e 10,95; DP=1,41, respectivamente, p=0,015; além de menores prevalências de anemia (20,6% e 43,5%, respectivamente, p=0,04. Apenas o tempo de suplementação influenciou na anemia grave (p=0,009. Não foram encontradas diferenças estatisticamente significantes para as variáveis adesão ao suplemento e efeitos adversos. CONCLUSÕES: A dosagem diária recomendada pela Sociedade Brasileira de Pediatria mostrou-se mais efetiva na prevenção da anemia em lactentes, quando comparada à dosagem utilizada pelo Ministério da Saúde. A dosagem semanal recomendada pelo programa do governo

  4. Adenosquamous variant of metaplastic carcinoma of breast - an unusual histological variant.

    Science.gov (United States)

    Swathy, P U; Arunalatha, P; Chandramouleeswari, K; Lily, S Mary; Ramya, S

    2015-02-01

    Metaplastic carcinoma of breast refers to a heterogeneous group of neoplasms characterized by intimate admixture of adenocarcinoma with dominant areas of spindle cell, squamous cell and/ or mesenchymal differentiation. They constitute the rarest histological variant of invasive ductal carcinoma. These carcinomas have aggressive clinical behaviour and show suboptimal response to standard treatment. A 49-year-old female presented with lump in the left breast for one year. She was diagnosed as infiltrating ductal carcinoma breast with triple negative hormone status by trucut biopsy. She completed four cycles of neoadjuvant chemotherapy. Postchemotherapy, axillary nodes decreased in size but the size of the primary tumour remained the same. Hence, she underwent modified radical mastectomy and the specimen sent for histopathological examination. Grossly, there was a solitary cyst measuring 4x3cm. Histologically, cyst enclosing malignant cells which resemble mature squamous epithelial cells. Also, seen are malignant cells in glandular pattern.

  5. Functionally significant, rare transcription factor variants in tetralogy of Fallot.

    Science.gov (United States)

    Töpf, Ana; Griffin, Helen R; Glen, Elise; Soemedi, Rachel; Brown, Danielle L; Hall, Darroch; Rahman, Thahira J; Eloranta, Jyrki J; Jüngst, Christoph; Stuart, A Graham; O'Sullivan, John; Keavney, Bernard D; Goodship, Judith A

    2014-01-01

    Rare variants in certain transcription factors involved in cardiac development cause Mendelian forms of congenital heart disease. The purpose of this study was to systematically assess the frequency of rare transcription factor variants in sporadic patients with the cardiac outflow tract malformation tetralogy of Fallot (TOF). We sequenced the coding, 5'UTR, and 3'UTR regions of twelve transcription factor genes implicated in cardiac outflow tract development (NKX2.5, GATA4, ISL1, TBX20, MEF2C, BOP/SMYD1, HAND2, FOXC1, FOXC2, FOXH, FOXA2 and TBX1) in 93 non-syndromic, non-Mendelian TOF cases. We also analysed Illumina Human 660W-Quad SNP Array data for copy number variants in these genes; none were detected. Four of the rare variants detected have previously been shown to affect transactivation in in vitro reporter assays: FOXC1 p.P297S, FOXC2 p.Q444R, FOXH1 p.S113T and TBX1 p.P43_G61del PPPPRYDPCAAAAPGAPGP. Two further rare variants, HAND2 p.A25_A26insAA and FOXC1 p.G378_G380delGGG, A488_491delAAAA, affected transactivation in in vitro reporter assays. Each of these six functionally significant variants was present in a single patient in the heterozygous state; each of the four for which parental samples were available were maternally inherited. Thus in the 93 TOF cases we identified six functionally significant mutations in the secondary heart field transcriptional network. This study indicates that rare genetic variants in the secondary heart field transcriptional network with functional effects on protein function occur in 3-13% of patients with TOF. This is the first report of a functionally significant HAND2 mutation in a patient with congenital heart disease.

  6. Mendelian randomization analysis with multiple genetic variants using summarized data.

    Science.gov (United States)

    Burgess, Stephen; Butterworth, Adam; Thompson, Simon G

    2013-11-01

    Genome-wide association studies, which typically report regression coefficients summarizing the associations of many genetic variants with various traits, are potentially a powerful source of data for Mendelian randomization investigations. We demonstrate how such coefficients from multiple variants can be combined in a Mendelian randomization analysis to estimate the causal effect of a risk factor on an outcome. The bias and efficiency of estimates based on summarized data are compared to those based on individual-level data in simulation studies. We investigate the impact of gene-gene interactions, linkage disequilibrium, and 'weak instruments' on these estimates. Both an inverse-variance weighted average of variant-specific associations and a likelihood-based approach for summarized data give similar estimates and precision to the two-stage least squares method for individual-level data, even when there are gene-gene interactions. However, these summarized data methods overstate precision when variants are in linkage disequilibrium. If the P-value in a linear regression of the risk factor for each variant is less than 1×10⁻⁵, then weak instrument bias will be small. We use these methods to estimate the causal association of low-density lipoprotein cholesterol (LDL-C) on coronary artery disease using published data on five genetic variants. A 30% reduction in LDL-C is estimated to reduce coronary artery disease risk by 67% (95% CI: 54% to 76%). We conclude that Mendelian randomization investigations using summarized data from uncorrelated variants are similarly efficient to those using individual-level data, although the necessary assumptions cannot be so fully assessed. © 2013 WILEY PERIODICALS, INC.

  7. HABP2 G534E Variant in Papillary Thyroid Carcinoma.

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    Jerneja Tomsic

    Full Text Available The main nonmedullary form of thyroid cancer is papillary thyroid carcinoma (PTC that accounts for 80-90% of all thyroid malignancies. Only 3-10% of PTC patients have a positive family history of PTC yet the familiality is one of the highest of all cancers as measured by case control studies. A handful of genes have been implicated accounting for a small fraction of this genetic predisposition. It was therefore of considerable interest that a mutation in the HABP2 gene was recently implicated in familial PTC. The present work was undertaken to examine the extent of HABP2 variant involvement in PTC. The HABP2 G534E variant (rs7080536 was genotyped in blood DNA from 179 PTC families (one affected individual per family, 1160 sporadic PTC cases and 1395 controls. RNA expression of HABP2 was tested by qPCR in RNA extracted from tumor and normal thyroid tissue from individuals that are homozygous wild-type or heterozygous for the variant. The variant was found to be present in 6.1% familial cases, 8.0% sporadic cases (2 individuals were homozygous for the variant and 8.7% controls. The variant did not segregate with PTC in one large and 6 smaller families in which it occurred. In keeping with data from the literature and databases the expression of HABP2 was highest in the liver, much lower in 3 other tested tissues (breast, kidney, brain but not found in thyroid. Given these results showing lack of any involvement we suggest that the putative role of variant HABP2 in PTC should be carefully scrutinized.

  8. Combined effects of thrombosis pathway gene variants predict cardiovascular events.

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    Kirsi Auro

    2007-07-01

    Full Text Available The genetic background of complex diseases is proposed to consist of several low-penetrance risk loci. Addressing this complexity likely requires both large sample size and simultaneous analysis of different predisposing variants. We investigated the role of four thrombosis genes: coagulation factor V (F5, intercellular adhesion molecule 1 (ICAM1, protein C (PROC, and thrombomodulin (THBD in cardiovascular diseases. Single allelic gene variants and their pair-wise combinations were analyzed in two independently sampled population cohorts from Finland. From among 14,140 FINRISK participants (FINRISK-92, n = 5,999 and FINRISK-97, n = 8,141, we selected for genotyping a sample of 2,222, including 528 incident cardiovascular disease (CVD cases and random subcohorts totaling 786. To cover all known common haplotypes (>10%, 54 single nucleotide polymorphisms (SNPs were genotyped. Classification-tree analysis identified 11 SNPs that were further analyzed in Cox's proportional hazard model as single variants and pair-wise combinations. Multiple testing was controlled by use of two independent cohorts and with false-discovery rate. Several CVD risk variants were identified: In women, the combination of F5 rs7542281 x THBD rs1042580, together with three single F5 SNPs, was associated with CVD events. Among men, PROC rs1041296, when combined with either ICAM1 rs5030341 or F5 rs2269648, was associated with total mortality. As a single variant, PROC rs1401296, together with the F5 Leiden mutation, was associated with ischemic stroke events. Our strategy to combine the classification-tree analysis with more traditional genetic models was successful in identifying SNPs-acting either in combination or as single variants--predisposing to CVD, and produced consistent results in two independent cohorts. These results suggest that variants in these four thrombosis genes contribute to arterial cardiovascular events at population level.

  9. Functionally significant, rare transcription factor variants in tetralogy of Fallot.

    Directory of Open Access Journals (Sweden)

    Ana Töpf

    Full Text Available Rare variants in certain transcription factors involved in cardiac development cause Mendelian forms of congenital heart disease. The purpose of this study was to systematically assess the frequency of rare transcription factor variants in sporadic patients with the cardiac outflow tract malformation tetralogy of Fallot (TOF.We sequenced the coding, 5'UTR, and 3'UTR regions of twelve transcription factor genes implicated in cardiac outflow tract development (NKX2.5, GATA4, ISL1, TBX20, MEF2C, BOP/SMYD1, HAND2, FOXC1, FOXC2, FOXH, FOXA2 and TBX1 in 93 non-syndromic, non-Mendelian TOF cases. We also analysed Illumina Human 660W-Quad SNP Array data for copy number variants in these genes; none were detected. Four of the rare variants detected have previously been shown to affect transactivation in in vitro reporter assays: FOXC1 p.P297S, FOXC2 p.Q444R, FOXH1 p.S113T and TBX1 p.P43_G61del PPPPRYDPCAAAAPGAPGP. Two further rare variants, HAND2 p.A25_A26insAA and FOXC1 p.G378_G380delGGG, A488_491delAAAA, affected transactivation in in vitro reporter assays. Each of these six functionally significant variants was present in a single patient in the heterozygous state; each of the four for which parental samples were available were maternally inherited. Thus in the 93 TOF cases we identified six functionally significant mutations in the secondary heart field transcriptional network.This study indicates that rare genetic variants in the secondary heart field transcriptional network with functional effects on protein function occur in 3-13% of patients with TOF. This is the first report of a functionally significant HAND2 mutation in a patient with congenital heart disease.

  10. Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot

    Science.gov (United States)

    Töpf, Ana; Griffin, Helen R.; Glen, Elise; Soemedi, Rachel; Brown, Danielle L.; Hall, Darroch; Rahman, Thahira J.; Eloranta, Jyrki J.; Jüngst, Christoph; Stuart, A. Graham; O'Sullivan, John; Keavney, Bernard D.; Goodship, Judith A.

    2014-01-01

    Objective Rare variants in certain transcription factors involved in cardiac development cause Mendelian forms of congenital heart disease. The purpose of this study was to systematically assess the frequency of rare transcription factor variants in sporadic patients with the cardiac outflow tract malformation tetralogy of Fallot (TOF). Methods and Results We sequenced the coding, 5′UTR, and 3′UTR regions of twelve transcription factor genes implicated in cardiac outflow tract development (NKX2.5, GATA4, ISL1, TBX20, MEF2C, BOP/SMYD1, HAND2, FOXC1, FOXC2, FOXH, FOXA2 and TBX1) in 93 non-syndromic, non-Mendelian TOF cases. We also analysed Illumina Human 660W-Quad SNP Array data for copy number variants in these genes; none were detected. Four of the rare variants detected have previously been shown to affect transactivation in in vitro reporter assays: FOXC1 p.P297S, FOXC2 p.Q444R, FOXH1 p.S113T and TBX1 p.P43_G61del PPPPRYDPCAAAAPGAPGP. Two further rare variants, HAND2 p.A25_A26insAA and FOXC1 p.G378_G380delGGG, A488_491delAAAA, affected transactivation in in vitro reporter assays. Each of these six functionally significant variants was present in a single patient in the heterozygous state; each of the four for which parental samples were available were maternally inherited. Thus in the 93 TOF cases we identified six functionally significant mutations in the secondary heart field transcriptional network. Significance This study indicates that rare genetic variants in the secondary heart field transcriptional network with functional effects on protein function occur in 3–13% of patients with TOF. This is the first report of a functionally significant HAND2 mutation in a patient with congenital heart disease. PMID:25093829

  11. Cerivastatin, genetic variants, and the risk of rhabdomyolysis.

    Science.gov (United States)

    Marciante, Kristin D; Durda, Jon P; Heckbert, Susan R; Lumley, Thomas; Rice, Ken; McKnight, Barbara; Totah, Rheem A; Tamraz, Bani; Kroetz, Deanna L; Fukushima, Hisayo; Kaspera, Rüdiger; Bis, Joshua C; Glazer, Nicole L; Li, Guo; Austin, Thomas R; Taylor, Kent D; Rotter, Jerome I; Jaquish, Cashell E; Kwok, Pui-Yan; Tracy, Russell P; Psaty, Bruce M

    2011-05-01

    The withdrawal of cerivastatin involved an uncommon but serious adverse reaction, rhabdomyolysis. The bimodal response, rhabdomyolysis in a small proportion of users, points to genetic factors as a potential cause. We conducted a case-control study to evaluate genetic markers for cerivastatin-associated rhabdomyolysis. This study had two components: a candidate gene study to evaluate variants in CYP2C8, UGT1A1, UGT1A3, and SLCO1B1; and a genome-wide association study to identify risk factors in other regions of the genome. A total of 185 rhabdomyolysis cases were frequency matched to statin-using controls from the Cardiovascular Health Study (n=374) and the Heart and Vascular Health Study (n=358). Validation relied on functional studies. Permutation test results suggested an association between cerivastatin-associated rhabdomyolysis and variants in SLCO1B1 (P=0.002), but not variants in CYP2C8 (P=0.073) or UGTs (P=0.523). An additional copy of the minor allele of SLCO1B1 rs4149056 (p.Val174Ala) was associated with the risk of rhabdomyolysis (odds ratio: 1.89; 95% confidence interval: 1.40-2.56). In transfected cells, this variant reduced cerivastatin transport by 40% compared with the reference transporter (P<0.001). The genome-wide association study identified an intronic variant (rs2819742) in the ryanodine receptor 2 gene (RYR2) as significant (P=1.74E-07). An additional copy of the minor allele of the RYR2 variant was associated with a reduced risk of rhabdomyolysis (odds ratio: 0.48; 95% confidence interval: 0.36-0.63). We identified modest genetic risk factors for an extreme response to cerivastatin. Disabling genetic variants in the candidate genes were not responsible for the bimodal response to cerivastatin.

  12. Likelihood ratio tests in rare variant detection for continuous phenotypes.

    Science.gov (United States)

    Zeng, Ping; Zhao, Yang; Liu, Jin; Liu, Liya; Zhang, Liwei; Wang, Ting; Huang, Shuiping; Chen, Feng

    2014-09-01

    It is believed that rare variants play an important role in human phenotypes; however, the detection of rare variants is extremely challenging due to their very low minor allele frequency. In this paper, the likelihood ratio test (LRT) and restricted likelihood ratio test (ReLRT) are proposed to test the association of rare variants based on the linear mixed effects model, where a group of rare variants are treated as random effects. Like the sequence kernel association test (SKAT), a state-of-the-art method for rare variant detection, LRT and ReLRT can effectively overcome the problem of directionality of effect inherent in the burden test in practice. By taking full advantage of the spectral decomposition, exact finite sample null distributions for LRT and ReLRT are obtained by simulation. We perform extensive numerical studies to evaluate the performance of LRT and ReLRT, and compare to the burden test, SKAT and SKAT-O. The simulations have shown that LRT and ReLRT can correctly control the type I error, and the controls are robust to the weights chosen and the number of rare variants under study. LRT and ReLRT behave similarly to the burden test when all the causal rare variants share the same direction of effect, and outperform SKAT across various situations. When both positive and negative effects exist, LRT and ReLRT suffer from few power reductions compared to the other two competing methods; under this case, an additional finding from our simulations is that SKAT-O is no longer the optimal test, and its power is even lower than that of SKAT. The exome sequencing SNP data from Genetic Analysis Workshop 17 were employed to illustrate the proposed methods, and interesting results are described. © 2014 John Wiley & Sons Ltd/University College London.

  13. Melanocortin 1 receptor variants and skin cancer risk.

    Science.gov (United States)

    Han, Jiali; Kraft, Peter; Colditz, Graham A; Wong, Jason; Hunter, David J

    2006-10-15

    Melanocortin 1 receptor (MC1R) gene variants are associated with red hair and fair skin color. We assessed the associations of common MC1R genotypes with the risks of 3 types of skin cancer simultaneously in a nested case-control study within the Nurses' Health Study (219 melanoma, 286 squamous cell carcinoma (SCC), and 300 basal cell carcinoma (BCC) cases, and 873 controls). We found that the 151Cys, 160Trp and 294His variants were significantly associated with red hair, fair skin color and childhood tanning tendency. The MC1R variants, especially the 151Cys variant, were associated with increased risks of the 3 types of skin cancer, after controlling for hair color, skin color and other skin cancer risk factors. Carriers of the 151Cys variant had an OR of 1.65 (95% CI, 1.04-2.59) for melanoma, 1.67 (1.12-2.49) for SCC and 1.56 (1.03-2.34) for BCC. Women with medium or olive skin color carrying 1 nonred hair color allele and 1 red hair color allele had the highest risk of melanoma. A similar interaction pattern was observed for red hair and carrying at least 1 red hair color allele on melanoma risk. We also observed that the 151Cys variant contributed additional melanoma risk among red-haired women. The information on MC1R status modestly improved the risk prediction; the increase was significant for melanoma and BCC (p, 0.004 and 0.05, respectively). These findings indicated that the effects of the MC1R variants on skin cancer risk were independent from self-reported phenotypic pigmentation. Copyright 2006 Wiley-Liss, Inc.

  14. Fumigant Antifungal Activity of Myrtaceae Essential Oils and Constituents from <em>Leptospermum petersoniiem> against Three <em>Aspergillus> Species

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    Il-Kwon Park

    2012-09-01

    Full Text Available Commercial plant essential oils obtained from 11 Myrtaceae plant species were tested for their fumigant antifungal activity against <em>Aspergillus ochraceusem>, <em>A. flavusem>, and <em>A. nigerem>. Essential oils extracted from<em> em>Leptospermum> <em>petersonii> at air concentrations of 56 × 10−3 mg/mL and 28 × 10−3 mg/mL completely inhibited the growth of the three <em>Aspergillus> species. However, at an air concentration of 14 × 10−3 mg/mL, inhibition rates of <em>L. petersoniiem> essential oils were reduced to 20.2% and 18.8% in the case of <em>A. flavusem> and <em>A. nigerem>, respectively. The other Myrtaceae essential oils (56 × 10−3 mg/mL only weakly inhibited the fungi or had no detectable affect. Gas chromatography-mass spectrometry analysis identified 16 compounds in <em>L. petersoniiem>> em>essential> em>oil.> em>The antifungal activity of the identified compounds was tested individually by using standard or synthesized compounds. Of these, neral and geranial inhibited growth by 100%, at an air concentration of 56 × 10−3 mg/mL, whereas the activity of citronellol was somewhat lover (80%. The other compounds exhibited only moderate or weak antifungal activity. The antifungal activities of blends of constituents identified in <em>L. petersoniiem> oil indicated that neral and geranial were the major contributors to the fumigant and antifungal activities.

  15. Espondiloptose em atleta

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    Ana Paula Luppino Assad

    2014-06-01

    Full Text Available Os atletas adolescentes estão sob maior risco de lombalgia e lesões estruturais da coluna. A espondilólise é responsável pela maioria das lombalgias em jovens esportistas e raramente ocorre em adultos. Relatamos o caso de uma paciente de 13 anos, atleta de judô, que chegou a nosso serviço com quadro de cinco meses de lombalgia progressiva durante os treinos, sendo inicialmente atribuída a causas mecânicas, sem que houvesse uma investigação mais detalhada por métodos de imagem. Na admissão já apresentava deformidade lombar, postura antálgica e manobra de hiperextensão lombar em unipodálico positiva bilateralmente. Realizou-se investigação, que evidenciou espondiloptose, sendo, então, submetida a tratamento cirúrgico. Com base neste relato de caso, discutimos a abordagem diagnóstica de lombalgia em atletas jovens, uma vez que a queixa de lombalgia crônica pode ser marcador de uma lesão estrutural, a qual pode ser definitiva e trazer perda funcional irreversível.

  16. ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failure

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    Qin Yingying

    2012-01-01

    Full Text Available Abstract Background Premature ovarian failure (POF is a complex and heterogeneous disorder that is influenced by multiple genetic components. Numerous candidate gene studies designed to identify POF susceptibility loci have been published, but most positive findings have not been confirmed in follow up studies. We sought to determine if sequence variants previously associated with age at natural menopause (AANM or early menopause (EM contribute as well to genetic susceptibility to POF. Methods Our study was performed on 371 unrelated idiopathic women with POF and 800 women controls, all Chinese Han. Thirty six SNPs from previous genome-wide association studies (GWAS responsible for AANM or EM and 3 additional SNPs in ESR1, and 2 additional SNPs in PTHB1 were tested using the Sequenom MassARRAY iPLEX platform for genotyping. Results Three SNPs - rs2278493 in HK3, rs2234693 in ESR1 and rs12611091 in BRSK1 - showed nominally significant association with POF. Thus, a plausible relationship could exist between ESR1, BRSK1, HK3 and POF. Conclusions This largest association study undertaken to determine correlation between POF and AANM/EM revealed three significant SNPs (rs2278493, rs2234693, and rs12611091. All are associated with not only AAWM and EM but also POF. Insights into shared genetic susceptibility between POF and AANM/EM will provide novel entry points for unraveling genetic mechanism involved in ovarian reserve and oocyte aging processes.

  17. Prevalência de anemia e deficiência de ferro em adolescentes do sexo feminino - Taboão da Serra, SP, Brasil Prevalecía de anemia y deficiencia de hierro en adolescentes de sexo feminino - Taboão da Serra, SP, Brasil Prevalence of anemia and iron-deficiency in female teenagers - Taboão da Serra, SP, Brazil

    Directory of Open Access Journals (Sweden)

    Elizabeth Fujimori

    1996-12-01

    Full Text Available Com o objetivo de avaliar a prevalência de anemia e deficiência de ferro em mulheres adolescentes, estudou-se uma mostra equiprobabilística de 262 adolescentes do Município de Taboão da Serra, SP, Brasil. A anemia foi diagnosticada pelo nível de hemoglobina, e a deficiência de ferro através da concentração de protoporfirina eritrocitária livre. Encontrou-se 17,6% de anemia e sua ocorrência foi inversamente relacionada ao indicadores sócios-econômicos estudados: renda, escolaridade do chefe da família e características da moradia. Foi mais freqüente no grupo pré-menarca e não mostrou relação com o intervalo entre os ciclos menstruais. A prevalência de deficiência de ferro foi de 29,4% e não se verificou correlação com o nível de hemoglobina a não ser nos casos de severos de anemia.Con el objetivo de evaluar la prevalencia de anemia y deficiencia de hierro en mujeres adolescentes, se estudió una muestra equiprobabilistica de 262 adolescentes del Municipio de Taboão da Serra, Brasil. La anemia fue diagnosticada por el nivel de hemoglobina y la deficiencia de hierro a través de la concentración de protoporfirina eritrocitaria libre. Se encontró 17,6% de anemia y su ocurrencia fue inversamente relacionada a los indicadores socioeconómicos estudiados: renta, escolaridad del jefe de familia y característica de la vivienda. Fue más frecuente en el grupo pre-menarquia y no mostró relación con el intervalo entre los ciclos menstruales. La prevalencia de deficiencia de hierro fue de 29,4% y no se encontró correlación con el nivel de hemoglobina a no ser en los casos severos de anemia.It was studied an equiprobabilistic sample of 262 female teenagers living in the city of Taboão da Serra, Brazil, with the aim of evaluating the prevalence of anemia and iron-deficiency. Anemia was identified by the hemoglobin level and the prevalence of iron-deficiency was determined through the concentration of free erythrocyte

  18. PNEUMOPERITÔNIO COM DIÓXIDO DE CARBONO ASSOCIADO A TRÊS POSIÇÕES PARA LAPAROSCOPIA EM CÃES PNEUMOPERITONEUM USING CARBON DIOXIDE ASSOCIATED WITH THREE POSITIONS FOR LAPAROSCOPY IN DOGS

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    Marshal Costa Leme

    2002-04-01

    Full Text Available Doze cães foram submetidos ao pneumoperitônio com dióxido de carbono, em pressão constante de 15mmHg, e posicionados em Trendelenburg, Trendelenburg reverso e decúbito horizontal. As variáveis de saturação de oxigênio na hemoglobina, freqüência cardíaca, freqüência respiratória, pressão arterial média, sistólica e diastólica, o pH, a pressão parcial de CO2 e a pressão parcial de O2 foram mensurados. Somente a freqüência cardíaca, a freqüência respiratória, o pH e a pressão parcial de CO2 apresentaram diferença estatisticamente significativa em relação ao tempo.The present study evaluated the changes in abdominal insufflation with carbon dioxide, with constant pressure of 15mmHg. In this experiment 12 dogs, adult mongrels were used. After having installed the pneumoperitonium, the animals were positioned in Trendelenburg, reversed Trendelenburg and horizontal position. In each one of the mentioned positions, the dogs stayed for a period of 30 minutes, for evaluation of alterations in the variables of saturation of oxygen in the hemoglobin, heart rate, breathing rate, arterial blood pressure, pH, partial pressure of CO2 and partial pressure of O2. There was no influences of the positioning on the studied variables. The heart rate, breathing rate, pH and the partial pressure of CO2 had significant difference when compared at the time controls.

  19. Occurrence of the Cys311 DRD2 variant in a pedigree multiply affected with panic disorder

    Energy Technology Data Exchange (ETDEWEB)

    Crawford, F.; Hoyne, J.; Diaz, P. [Univ. of South Florida, Tampa, FL (United States)] [and others

    1995-08-14

    Following the detection of the rare DRD2 codon 311 variant (Ser{yields}Cys) in an affected member from a large, multiply affected panic disorder family, we investigated the occurrence of this variant in other family members. The variant occurred in both affected and unaffected individuals. Further screening in panic disorder sib pairs unrelated to this family failed to detect the Cys311 variant. Our data suggests that this variant has no pathogenic role in panic disorder. 18 refs., 1 fig.

  20. The region of XRCC1 which harbours the three most common nonsynonymous polymorphic variants, is essential for the scaffolding function of XRCC1

    DEFF Research Database (Denmark)

    Hanssen-Bauer, Audun; Solvang-Garten, Karin; Gilljam, Karin Margaretha

    2012-01-01

    for recruitment of XRCC1 to sites of DNA damage and DNA replication. Also, we found that ectopic expression of the region from residue 166-436 partially rescued the methyl methanesulfonate (MMS) hypersensitivity of XRCC1-deficient EM9 cells, suggesting a key role for this region in mediating DNA repair. The three...... most common amino acid variants of XRCC1, Arg194Trp, Arg280His and Arg399Gln, are located within the region comprising the NLS and BRCT1 domains, and these variants may be associated with increased incidence of specific types of cancer. While we could not detect differences in the intra......XRCC1 functions as a non-enzymatic, scaffold protein in single strand break repair (SSBR) and base excision repair (BER). Here, we examine different regions of XRCC1 for their contribution to the scaffolding functions of the protein. We found that the central BRCT1 domain is essential...

  1. Charge variant analysis of proposed biosimilar to Trastuzumab.

    Science.gov (United States)

    Dakshinamurthy, Pravinkumar; Mukunda, Pavithra; Prasad Kodaganti, Bhargav; Shenoy, Bharath Ravindra; Natarajan, Bairavabalakumar; Maliwalave, Amol; Halan, Vivek; Murugesan, Sathyabalan; Maity, Sunit

    2017-03-01

    Trastuzumab is a humanized monoclonal antibody (mAb) employed for the treatment of HER2 Positive Breast Cancer. A HER2 overexpressing tumor cell binds to Trastuzumab and attracts immune cells which lead to induction of Antibody Dependent Cellular Cytotoxicity (ADCC) by binding to Fc receptors (CD16a or FcγRIIIa) on an effector cell, such as natural killer (NK) cells. The most commonly expressed receptor on NK cell is CD16a which binds to the Fc portion of Trastuzumab. The ligand-independent HER2-HER3 dimerization is the most potent stimulator of downstream pathways for regulation of cell growth and survival. An attempt has been made in this study to understand the impact of charge heterogeneity on the binding kinetics and potency of the monoclonal antibody. Trastuzumab has a pI range of 8.7-8.9 and is composed of mixture of acidic and basic variants beside the main peak. Ion exchange chromatography was used to isolate the acidic, basic, and main peak fractions from in-house proposed biosimilar to Trastuzumab and their activities were compared to the Innovator Trastuzumab Herclon(®). Data from the mass analysis confirmed the potential modifications in both acidic and basic variant. Binding activity studies performed using Surface Plasmon Resonance (SPR) revealed that acidic variants had lesser binding to HER2 in comparison to the basic variants. Both acidic and basic variant showed no significant changes in their binding to soluble CD16a receptors. In vitro assay studies using a breast cancer cell line (BT-474) confirmed the binding potency of acidic variant to be lesser than basic variant, along with reduced anti-proliferative activity for the acidic variant of Trastuzumab. Overall, these data has provided meaningful insights to the impact of antibody charge variants on in vitro potency and CD16 binding affinity of trastuzumab. Copyright © 2016 International Alliance for Biological Standardization. Published by Elsevier Ltd. All rights reserved.

  2. Connected speech production in three variants of primary progressive aphasia.

    Science.gov (United States)

    Wilson, Stephen M; Henry, Maya L; Besbris, Max; Ogar, Jennifer M; Dronkers, Nina F; Jarrold, William; Miller, Bruce L; Gorno-Tempini, Maria Luisa

    2010-07-01

    Primary progressive aphasia is a clinical syndrome defined by progressive deficits isolated to speech and/or language, and can be classified into non-fluent, semantic and logopenic variants based on motor speech, linguistic and cognitive features. The connected speech of patients with primary progressive aphasia has often been dichotomized simply as 'fluent' or 'non-fluent', however fluency is a multidimensional construct that encompasses features such as speech rate, phrase length, articulatory agility and syntactic structure, which are not always impacted in parallel. In this study, our first objective was to improve the characterization of connected speech production in each variant of primary progressive aphasia, by quantifying speech output along a number of motor speech and linguistic dimensions simultaneously. Secondly, we aimed to determine the neuroanatomical correlates of changes along these different dimensions. We recorded, transcribed and analysed speech samples for 50 patients with primary progressive aphasia, along with neurodegenerative and normal control groups. Patients were scanned with magnetic resonance imaging, and voxel-based morphometry was used to identify regions where atrophy correlated significantly with motor speech and linguistic features. Speech samples in patients with the non-fluent variant were characterized by slow rate, distortions, syntactic errors and reduced complexity. In contrast, patients with the semantic variant exhibited normal rate and very few speech or syntactic errors, but showed increased proportions of closed class words, pronouns and verbs, and higher frequency nouns, reflecting lexical retrieval deficits. In patients with the logopenic variant, speech rate (a common proxy for fluency) was intermediate between the other two variants, but distortions and syntactic errors were less common than in the non-fluent variant, while lexical access was less impaired than in the semantic variant. Reduced speech rate was

  3. Ultrasound-Assisted Extraction of Syringin from the Bark of <em>Ilex em>rotunda> Thumb Using Response Surface Methodology

    Directory of Open Access Journals (Sweden)

    Hui Wang

    2012-06-01

    Full Text Available In this work, a rapid extraction method based on ultrasound-assisted extraction (UAE of syringin from the bark of <em>Ilex rotunda em>Thumb using response surface methodology (RSM is described. The syringin was analyzed and quantified by high performance liquid chromatography coupled with UV detection (HPLC-UV. The extraction solvent, extraction temperature and extraction time, the three main factors for UAE, were optimized with Box-Behnken design (BBD to obtain the highest extraction efficiency. The optimal conditions were the use of a sonication frequency of 40 kHz, 65% methanol as the solvent, an extraction time of 30 min and an extraction temperature of 40 °C. Using these optimal conditions, the experimental values agreed closely with the predicted values. The analysis of variance (ANOVA indicated a high goodness of model fit and the success of the RSM method for optimizing syringin extraction from the bark of <em>I>. em>rotunda>.

  4. Functional significance of rare neuroligin 1 variants found in autism.

    Directory of Open Access Journals (Sweden)

    Moe Nakanishi

    2017-08-01

    Full Text Available Genetic mutations contribute to the etiology of autism spectrum disorder (ASD, a common, heterogeneous neurodevelopmental disorder characterized by impairments in social interaction, communication, and repetitive and restricted patterns of behavior. Since neuroligin3 (NLGN3, a cell adhesion molecule at the neuronal synapse, was first identified as a risk gene for ASD, several additional variants in NLGN3 and NLGN4 were found in ASD patients. Moreover, synaptopathies are now known to cause several neuropsychiatric disorders including ASD. In humans, NLGNs consist of five family members, and neuroligin1 (NLGN1 is a major component forming a complex on excitatory glutamatergic synapses. However, the significance of NLGN1 in neuropsychiatric disorders remains unknown. Here, we systematically examine five missense variants of NLGN1 that were detected in ASD patients, and show molecular and cellular alterations caused by these variants. We show that a novel NLGN1 Pro89Leu (P89L missense variant found in two ASD siblings leads to changes in cellular localization, protein degradation, and to the impairment of spine formation. Furthermore, we generated the knock-in P89L mice, and we show that the P89L heterozygote mice display abnormal social behavior, a core feature of ASD. These results, for the first time, implicate rare variants in NLGN1 as functionally significant and support that the NLGN synaptic pathway is of importance in the etiology of neuropsychiatric disorders.

  5. Unclassified sequence variants (UVS and genetic predisposition to cancer

    Directory of Open Access Journals (Sweden)

    Yves-Jean Bignon

    2011-06-01

    Full Text Available Hereditary breast and ovarian cancers are mainly attributable to predisposition genes whose germinal mutations are responsible for the disease. The most common genes associated with breast/ovarian cancer are BRCA1 and BRCA2 but at least 20 other genes of medium of high penetrance have been associated with these types of cancer. Lifetime risk of breast cancer for BRCA mutations carriers approaches 90%. Appropriate medical follow-up is therefore essential for women carrying mutations in these genes. BRCA mutational spectrum has not been entirely characterized but not all sequence variants are pathogenic. These are classified as benign polymorphisms or unclassified variants (UV with unknown pathological potential. To date, 43,5% of over 3500 genetic variants BRCA1 and BRCA2 are reported as having uncertain clinical significance. Whether one sequence variant has or not a pathogenicity implication is often a hard decision to take, involving important consequences for diagnosis and medical follow-up. Here we present several cases of unclassified sequence variants detection and interpretation by in-silico analysis.

  6. Canine parvovirus: the worldwide occurrence of antigenic variants.

    Science.gov (United States)

    Miranda, Carla; Thompson, Gertrude

    2016-09-01

    The most important enteric virus infecting canids is canine parvovirus type 2 (CPV-2). CPV is the aetiologic agent of a contagious disease, mainly characterized by clinical gastroenteritis signs in younger dogs. CPV-2 emerged as a new virus in the late 1970s, which could infect domestic dogs, and became distributed in the global dog population within 2 years. A few years later, the virus's original type was replaced by a new genetic and antigenic variant, called CPV-2a. Around 1984 and 2000, virus variants with the single change to Asp or Glu in the VP2 residue 426 were detected (sometimes termed CPV-2b and -2c). The genetic and antigenic changes in the variants have also been correlated with changes in their host range; in particular, in the ability to replicate in cats and also host range differences in canine and other tissue culture cells. CPV-2 variants have been circulating among wild carnivores and have been well-documented in several countries around the world. Here, we have reviewed and summarized the current information about the worldwide distribution and evolution of CPV-2 variants since they emerged, as well as the host ranges they are associated with.

  7. De Novo Coding Variants Are Strongly Associated with Tourette Disorder.

    Science.gov (United States)

    Willsey, A Jeremy; Fernandez, Thomas V; Yu, Dongmei; King, Robert A; Dietrich, Andrea; Xing, Jinchuan; Sanders, Stephan J; Mandell, Jeffrey D; Huang, Alden Y; Richer, Petra; Smith, Louw; Dong, Shan; Samocha, Kaitlin E; Neale, Benjamin M; Coppola, Giovanni; Mathews, Carol A; Tischfield, Jay A; Scharf, Jeremiah M; State, Matthew W; Heiman, Gary A

    2017-05-03

    Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186 trios from the Tourette Syndrome Association International Consortium on Genetics (511 total). We observe strong and consistent evidence for the contribution of de novo likely gene-disrupting (LGD) variants (rate ratio [RR] 2.32, p = 0.002). Additionally, de novo damaging variants (LGD and probably damaging missense) are overrepresented in probands (RR 1.37, p = 0.003). We identify four likely risk genes with multiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1), CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3), NIPBL (Nipped-B-like), and FN1 (fibronectin 1). Overall, we estimate that de novo damaging variants in approximately 400 genes contribute risk in 12% of clinical cases. VIDEO ABSTRACT. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. European multiple sclerosis risk variants in the south Asian population.

    Science.gov (United States)

    Pandit, Lekha; Ban, Maria; Beecham, Ashley Harris; McCauley, Jacob L; Sawcer, Stephen; D'Cunha, Anitha; Malli, Chaitra; Malik, Omar

    2016-10-01

    In less than a decade, genomewide association studies have identified over 100 single-nucleotide variants that are associated with increased risk of developing multiple sclerosis. However, since these studies have focused almost exclusively on European populations, it is unclear what role these variants might play in determining risk in other ethnic groups. To assess the effects of European multiple sclerosis-associated risk variants in the south Asian population. Using a combination of chip-based genotyping and next-generation sequencing, we have assessed 109 European-associated variants in a total of 270 cases and 555 controls from the south Asian population. We found that two-thirds of the tested variants (72/109) showed over representation of the European risk allele in south Asian cases (p TNFSF13B, the gene for the B-cell-related protein BAFF. Our data indicate substantial overlap in genetic risk architecture between Europeans and south Asians and suggest that the aetiology of the disease may be largely independent of ethnicity. © The Author(s), 2016.

  9. [Specificities of the logopenic variant of primary progressive aphasia].

    Science.gov (United States)

    Magnin, E; Teichmann, M; Martinaud, O; Moreaud, O; Ryff, I; Belliard, S; Pariente, J; Moulin, T; Vandel, P; Démonet, J-F

    2015-01-01

    The logopenic variant of primary progressive aphasia is a syndrome with neuropsychological and linguistic specificities, including phonological loop impairment for which diagnosis is currently mainly based on the exclusion of the two other variants, semantic and nonfluent/agrammatic primary progressive aphasia. The syndrome may be underdiagnosed due (1) to mild language difficulties during the early stages of the disease or (2) to being mistaken for mild cognitive impairment or Alzheimer's disease when the evaluation of episodic memory is based on verbal material and (3) finally, it is not uncommon that the disorders are attributed to psychiatric co-morbidities such as, for example, anxiety. Moreover, compared to other variants of primary progressive aphasia, brain abnormalities are different. The left temporoparietal junction is initially affected. Neuropathology and biomarkers (cerebrospinal fluid, molecular amyloid nuclear imaging) frequently reveal Alzheimer's disease. Consequently this variant of primary progressive aphasia does not fall under the traditional concept of frontotemporal lobar degeneration. These distinctive features highlight the utility of correct diagnosis, classification, and use of biomarkers to show the neuropathological processes underlying logopenic primary progressive aphasia. The logopenic variant of primary progressive aphasia is a specific form of Alzheimer's disease frequently presenting a rapid decline; specific linguistic therapies are needed. Further investigation of this syndrome is needed to refine screening, improve diagnostic criteria and better understand the epidemiology and the biological mechanisms involved. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  10. Common genetic variants influence human subcortical brain structures

    Science.gov (United States)

    Hibar, Derrek P.; Stein, Jason L.; Renteria, Miguel E.; Arias-Vasquez, Alejandro; Desrivières, Sylvane; Jahanshad, Neda; Toro, Roberto; Wittfeld, Katharina; Abramovic, Lucija; Andersson, Micael; Aribisala, Benjamin S.; Armstrong, Nicola J.; Bernard, Manon; Bohlken, Marc M.; Boks, Marco P.; Bralten, Janita; Brown, Andrew A.; Chakravarty, M. Mallar; Chen, Qiang; Ching, Christopher R. K.; Cuellar-Partida, Gabriel; den Braber, Anouk; Giddaluru, Sudheer; Goldman, Aaron L.; Grimm, Oliver; Guadalupe, Tulio; Hass, Johanna; Woldehawariat, Girma; Holmes, Avram J.; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H.; Olde Loohuis, Loes M.; Luciano, Michelle; Macare, Christine; Mather, Karen A.; Mattheisen, Manuel; Milaneschi, Yuri; Nho, Kwangsik; Papmeyer, Martina; Ramasamy, Adaikalavan; Risacher, Shannon L.; Roiz-Santiañez, Roberto; Rose, Emma J.; Salami, Alireza; Sämann, Philipp G.; Schmaal, Lianne; Schork, Andrew J.; Shin, Jean; Strike, Lachlan T.; Teumer, Alexander; van Donkelaar, Marjolein M. J.; van Eijk, Kristel R.; Walters, Raymond K.; Westlye, Lars T.; Whelan, Christopher D.; Winkler, Anderson M.; Zwiers, Marcel P.; Alhusaini, Saud; Athanasiu, Lavinia; Ehrlich, Stefan; Hakobjan, Marina M. H.; Hartberg, Cecilie B.; Haukvik, Unn K.; Heister, Angelien J. G. A. M.; Hoehn, David; Kasperaviciute, Dalia; Liewald, David C. M.; Lopez, Lorna M.; Makkinje, Remco R. R.; Matarin, Mar; Naber, Marlies A. M.; McKay, D. Reese; Needham, Margaret; Nugent, Allison C.; Pütz, Benno; Royle, Natalie A.; Shen, Li; Sprooten, Emma; Trabzuni, Daniah; van der Marel, Saskia S. L.; van Hulzen, Kimm J. E.; Walton, Esther; Wolf, Christiane; Almasy, Laura; Ames, David; Arepalli, Sampath; Assareh, Amelia A.; Bastin, Mark E.; Brodaty, Henry; Bulayeva, Kazima B.; Carless, Melanie A.; Cichon, Sven; Corvin, Aiden; Curran, Joanne E.; Czisch, Michael; de Zubicaray, Greig I.; Dillman, Allissa; Duggirala, Ravi; Dyer, Thomas D.; Erk, Susanne; Fedko, Iryna O.; Ferrucci, Luigi; Foroud, Tatiana M.; Fox, Peter T.; Fukunaga, Masaki; Gibbs, J. Raphael; Göring, Harald H. H.; Green, Robert C.; Guelfi, Sebastian; Hansell, Narelle K.; Hartman, Catharina A.; Hegenscheid, Katrin; Heinz, Andreas; Hernandez, Dena G.; Heslenfeld, Dirk J.; Hoekstra, Pieter J.; Holsboer, Florian; Homuth, Georg; Hottenga, Jouke-Jan; Ikeda, Masashi; Jack, Clifford R.; Jenkinson, Mark; Johnson, Robert; Kanai, Ryota; Keil, Maria; Kent, Jack W.; Kochunov, Peter; Kwok, John B.; Lawrie, Stephen M.; Liu, Xinmin; Longo, Dan L.; McMahon, Katie L.; Meisenzahl, Eva; Melle, Ingrid; Mohnke, Sebastian; Montgomery, Grant W.; Mostert, Jeanette C.; Mühleisen, Thomas W.; Nalls, Micha