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  1. Identificação de variantes de hemoglobina em doadores de sangue Identification of hemoglobin variants in blood donor

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    Ana C. Bonini-Domingos

    2004-03-01

    Full Text Available Hemoglobinopathies are the most common genetic diseases and affect a great number of individuals in the world, with diverse clinical complications ranging from the almost unnoticeable to lethal consequences. In Brazil the occurrence of hemoglobinopathies is very frequent and influenced by the ethnical groups that are the basis of populations in different regions. The phenotype may be influenced by environmental and genetic factors and by migration. An understanding of these genetic diseases is important for the health and quality of life of the population. In this work we assessed the presence of Hb variants in blood donors from São José do Rio Preto and region, and we observed the occurrence of variants including Hb S and Hb C but in particular the so-called "S-Like" variants. Good determination of the forms of variant hemoglobins is very important to give better guidance to blood donors and their families, and to improve the quality of blood transfusion.

  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 com anemia não ferropênica Prevalence of thalassemias and variant hemoglobins in patients with non-ferropenic anemia

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    Sandrine C. Wagner

    2005-03-01

    Full Text Available 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 grupo de pacientes com anemia não ferropênica demonstrou que 63,8% eram portadores de alguma forma de anemia hereditária: 25,9% de talassemia alfa heterozigota, 32,8% de talassemia beta heterozigota, 3,4% de heterozigose para hemoglobina S (Hb AS e 1,7% de homozigose para hemoglobina C (Hb CC. No grupo dos controles, foram identificados 14,1% de anemias hereditárias, sendo destas 11,5% de talassemia alfa, 0,9% de talassemia beta, 1,3% de heterozigose para hemoglobina S (Hb AS e 0,4% de heterozigose para hemoglobina C (Hb AC. Os resultados obtidos permitem concluir que a prevalência de talassemias e hemoglobinas variantes no grupo controle é coincidente com a descrita na literatura. Entretanto, a excepcional prevalência dessas hemopatias hereditárias em pessoas com anemia não ferropênica deve ser divulgada entre médicos e serviços de saúde dada a sua importância no diagnóstico definitivo de anemia e dos corretos procedimentos terapêuticos.To establish the frequency of hemoglobinopathies and thalassemias in patients with non-ferropenic anemia, 58 patients with confirmed non-ferropenic anemia and 235 non-anemic individuals (control group were studied. All samples were obtained from the Hospital de Clínicas de Porto Alegre (HCPA, Rio Grande do Sul, Brazil. The techniques used were Alkaline pH cellulose acetate electrophoresis and cytological screening of Hb, Hl, HPLC, hemogram and ferritin. The data analysis showed that 63% of the

  4. 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

  5. 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.

  6. Comparação de metodologia utilizada para a detecção de Hemoglobina S (Hb S em doadores de sangue

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    Prudêncio Brígida C. A. B.

    2000-01-01

    Full Text Available O Brasil apresenta alta prevalência de hemoglobina S, com nítidas diferenças regionais marcadas pelos processos de miscigenação da população. A presença desta hemoglobina tem sido objeto de estudo, não só em pacientes com anemia falciforme (homozigotos para hemoglobina S - Hb SS, mas também em portadores desta variante de hemoglobina em heterozigose (Hb AS. As complicações clínicas dos portadores são influenciadas por fatores genéticos e ambientais. De acordo com a portaria 1376 de 19 de novembro de 1993 para Normas técnicas de coleta, processamento e transfusão de sangue, componentes e derivados, do Ministério da Saúde, deve ser realizada a detecção de hemoglobinas anormais em doadores de sangue. Diante desta normatização e às taxas de hemoglobina S em nossa população, objetivamos no presente trabalho a identificação da hemoglobina S, utilizando técnicas de triagem utilizadas na rotina de Bancos de Sangue, como o kit de identificação para hemoglobina S da Diamed, comercializado pela designação ID-Hb S, e o teste de solubilidade. Os casos que apresentaram positividade nesta triagem foram posteriormente confirmados em eletroforese em pH alcalino e ácido. Do total de 5.416 doadores de sangue analisados pelo teste de triagem (ID - Hb S Diamed e solubilidade, 50 (0,92% apresentaram hemoglobina S. Após confirmação eletroforética evidenciamos a compatibilidade das técnicas em 100 % dos casos analisados. O teste da Diamed apresenta custo de R$ 1,20 por doador e o de solubilidade R$ 0,14. Pelos resultados obtidos sugerimos o uso do teste de solubilidade como de escolha, para triagem de hemoglobina S em bancos de sangue, não só pela eficácia e praticidade, como também pelo baixo custo.

  7. 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.

  8. 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

  9. Prevalência de hemoglobinas anormais em recém-nascidos da cidade de Natal, Rio Grande do Norte, Brasil

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    Araújo Maria Cristina Pignataro Emerenciano de

    2004-01-01

    Full Text Available As hemoglobinopatias estão incluídas dentre as doenças hereditárias mais freqüentes nas populações humanas. Estudos realizados em diferentes regiões do Brasil têm demonstrado que as hemoglobinas anormais S e C são as mais prevalentes. Com o objetivo de investigar a prevalência de hemoglobinas anormais no período neonatal, foram analisadas 1.940 amostras de sangue de cordão umbilical provenientes de recém-nascidos de três maternidades da cidade de Natal, Rio Grande do Norte. Todas as amostras foram submetidas à eletroforese de hemoglobina em acetato de celulose utilizando tampão Tris-EDTA-Borato pH 8,5. As amostras que apresentaram hemoglobinas anormais foram submetidas à eletroforese em gel de ágar pH 6,2 para confirmação. Foram identificadas 37 (1,91% amostras com hemoglobinas anormais, das quais 29 (1,50% com traço falciforme (Hb FAS, 06 (0,31 % com Hb C, uma (0,05 % com anemia falciforme (Hb FS e uma (0,05 % apresentou Hb Bart's, sugerindo alfa talassemia. Os resultados encontrados evidenciam a necessidade de implantação da triagem de hemoglobinopatias em recém-nascidos na nossa população.

  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. Possível associação entre tipos de hemoglobina e problemas reprodutivos em éguas Mangalarga brasileiras

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    Rejane de Lima e Silva

    1996-09-01

    Full Text Available Foram estudadas as hemoglobinas de 100 éguas da raça Mangalarga, em idade de reprodução, provenientes da Fazenda Santa Fé, situada na região de Botucatu. Esses animais foram divididos em 2 grupos, de acordo com o histórico reprodutivo de cada animal, sendo um formado por éguas reprodutivamente normais e o segundo por éguas portadoras de problemas reprodutivos. Foram colhidas amostras de 15 ml de sangue com anticoagulante. As hemoglobinas foram identificadas por meio de eletroforese em gel de poliacrilamida em placa vertical, a 7% em pH 8.6, segundo Davis11 (1964. Quanto ao sistema de hemoglobinas, foram encontrados os seguintes fenótipos para o grupo de éguas reprodutivamente normais:A¹--- (2,0%, A¹, A²m+m+ (21,0% e A¹A² m+m (27,0%; para o grupo de éguas com problemas reprodutivos: A¹--- (10,0%, A¹A² m+m+ (12,0% e A¹A²m+m+ (28,0%. A diferença na freqüência do fenótipo A¹--- entre os grupos pode ter ocorrido devido ã existência da ligação do loco hemoglobina a outro que controlaria características de produção. Além disso, pode estar ocorrendo influência do tipo de clima existente nos trópicos.

  13. Hemoglobinas variantes na área médica e no discurso cotidiano: um olhar sobre raça, nação e genética no Brasil contemporâneo

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    Elena Calvo-Gonzalez

    Full Text Available Resumo Este artigo analisa a relação entre discursos médicos e noções cotidianas sobre raça, população e nação. Para isso, tomo como estudo de caso a comparação entre o uso dessas categorias na produção de artigos acadêmicos de dois renomados hematologistas brasileiros sobre a presença de hemoglobinas variantes patológicas no Brasil e a compreensão que famílias de pacientes diagnosticados com doença falciforme têm dessas mesmas questões. A comparação permite mostrar não só como os discursos da medicina influenciam o modo como questões relacionadas a raça e hereditariedade são compreendidas pelo público mais amplo, mas também a impossibilidade de separar em ambos casos, tanto na produção médica quanto nas falas dos pacientes, as noções sobre raça e hereditariedade de ideias mais amplas sobre o passado e o futuro da nação.

  14. Hemoglobin Kansas found by electrophoretic diagnosis in Brazil Hemoglobina Kansas diagnosticada através de eletroforese no Brasil

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    Claudia R. Bonini-Domingos

    2002-03-01

    Full Text Available Some hemoglobin variants with abnormal oxygen affinity have been reported so far from various regions of the world. They can be classified by their oxygen affinity and 15 variants with low oxygen affinity have been reported. A number of hemoglobin mutants which show an abnormal affinity for oxygen have been reported, but only few cases of hemoglobin Kansas. All cases reported so far are from Japan or in Japanese families. In this paper we describe a Brazilian patient with cyanosis and hemoglobin Kansas diagnosed by an electrophoretical procedure.Hemoglobinas variantes com afinidade anormal ao oxigênio têm sido encontradas em várias partes do mundo. Pela sua afinidade ao oxigênio, estas hemoglobinas variantes têm sido classificadas e 15 variantes com baixa afinidade relatadas. Numerosas hemoglobinas mutantes com afinidade anormal têm também sido relatadas, mas somente poucos casos de Hemoglobina Kansas. Os casos são de pacientes procedentes do Japão, ou de famílias com descendentes japoneses. Neste relato descrevemos um paciente com manifestações de cianose que teve o seu diagnóstico confirmado através da eletroforese.

  15. Hemoglobina C em homozigose e interação com talassemia beta Homozygous hemoglobin C and its interaction with beta thalassemia

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    Ivan L. Angulo

    2009-01-01

    Full Text Available A hemoglobina C (Hb C é originária do oeste da África e é detectada por migração lenta na eletroforese alcalina em acetato de celulose. Consiste na mutação do gene da globina beta no códon 6 (GAG-AAG, resultando na substituição do sexto aminoácido da cadeia beta da hemoglobina humana, o ácido glutâmico, pelo aminoácido lisina. A cromatografia de alto desempenho (HPLC separa completamente as frações C e A2, permitindo caracterizar a presença da interação com talassemia beta. Esta entidade (Hb CC, em homozigoze é considerada benigna em relação à doença falciforme, já que a falcização não faz parte de sua fisiopatologia. A raridade do diagnóstico C homozigoto e C talassemia beta nos pacientes portadores de hemoglobinopatias nos alertou para a necessidade de se conhecer melhor e estudar aspectos clínicos e hematológicos dos casos dessa mutação em homozigose e na interação com a talassemia beta no ambulatório de anemias do Centro Regional de Hematologia e Hemoterapia de Ribeirão Preto, SP, Brasil.Hemoglobin C (Hb C originated in the west of Africa and is detected by alkaline electrophoresis by slow migration in cellulose acetate. It consists of a mutation of the beta globin gene in codon 6 (GAG-AAG, resulting in a substitution of glutamic acid, the sixth amino acid of the beta string of the human hemoglobin, for lysine. High performance chromatography (HPLC separates the C and A2 fractions completely, allowing the characterization of the presence of interactions with thalassemia beta. This entity (Hb CC is considered benign in respect to sickle cell disease, as sickle cells are not part of its physiopathology. The rarity of the diagnosis of homozygous C and beta thalassemia in patients with hemoglobinopathies showed the necessity of studying clinical and hematologic aspects of the cases of this mutation in homozygosis carriers and the interaction with beta thalassemia in the anemias clinic of the Regional Blood

  16. Four adult hemoglobin types in one mulatto family Quatro tipos de hemoglobina em uma família adulta de mulatos

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    João Targino de Araújo

    1996-06-01

    Full Text Available The studied family showed the presence of four different types of hemoglobin. The family member who gave rise to this study (=propositus presented Hb C and the hybrid Hb CG-phila. The propositus has three children, all of which have Hb AC; none of the family members showed any clinical symptoms. The investigation of the hemoglobin arose from the finding of target red cells in a blood test done during the pre-operatory examination for lower limb varicose vein stripping. The hybrid Hb CG-phila is due to two gene pairs, each of which with individual expression, determining the synthesis and the particular type subunits. The hybrid Hb CG-phila is formed by the combination velocity of the subunits alpha2G-philabeta2; therefore the proportion of the hybrid Hb CG-phila is lower than Hb G-phila and Hb C. The identification and molecular characterization of Hb G-phila showed the position alpha268 Asn->Lys beta2 and Hb C showed alpha2beta26 Glu->Lys.A família em estudo mostrou a presença de quatro diferentes tipos de hemoglobinas. O membro da família que deu origem ao estudo (propositus foi identificado como Hb C e o híbrido com Hb CG-phila. O propositus tem três filhos todos portadores de Hb AC; nenhum membro da família apresentou sintomas clínicos. A pesquisa da hemoglobina resultou da existência de hemácias em alvo, no pré-operatório de varizes de membros inferiores. O híbrido Hb CG-phila é constituído por dois pares de genes, mas cada um com expressão inidividual, determinando a síntese e o tipo particular das subunidades. O híbrido Hb CG-phila é formado pela velocidade de combinação das subunidades alfa2G-philabeta2C assim sendo a proporção do híbrido Hb CG-phila é menor do que a Hb G-phila e Hb C. A identificação e caracterização molecular da Hb G-phila mostrou a posição alfa268 Asn->Lys beta2 a Hb C alfa2beta26 Glu->Lys.

  17. 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

  18. 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

  19. 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

  20. Prevalência de hemoglobinas anormais em recém-nascidos da cidade de Natal, Rio Grande do Norte, Brasil Prevalence of abnormal hemoglobins in newborns in Natal, Rio Grande do Norte, Brazil

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    Maria Cristina Pignataro Emerenciano de Araújo

    2004-02-01

    Full Text Available As hemoglobinopatias estão incluídas dentre as doenças hereditárias mais freqüentes nas populações humanas. Estudos realizados em diferentes regiões do Brasil têm demonstrado que as hemoglobinas anormais S e C são as mais prevalentes. Com o objetivo de investigar a prevalência de hemoglobinas anormais no período neonatal, foram analisadas 1.940 amostras de sangue de cordão umbilical provenientes de recém-nascidos de três maternidades da cidade de Natal, Rio Grande do Norte. Todas as amostras foram submetidas à eletroforese de hemoglobina em acetato de celulose utilizando tampão Tris-EDTA-Borato pH 8,5. As amostras que apresentaram hemoglobinas anormais foram submetidas à eletroforese em gel de ágar pH 6,2 para confirmação. Foram identificadas 37 (1,91% amostras com hemoglobinas anormais, das quais 29 (1,50% com traço falciforme (Hb FAS, 06 (0,31 % com Hb C, uma (0,05 % com anemia falciforme (Hb FS e uma (0,05 % apresentou Hb Bart's, sugerindo alfa talassemia. Os resultados encontrados evidenciam a necessidade de implantação da triagem de hemoglobinopatias em recém-nascidos na nossa população.Hemoglobinopathies are among the most prevalent hereditary diseases in humans. Studies in different areas of Brazil have identified the prevalence of S and C abnormal hemoglobins. The study analyzed 1,940 cord blood samples of newborns from maternity hospitals in Natal, Rio Grande do Norte State, to investigate the prevalence of abnormal hemoglobins. All samples were submitted to cellulose acetate electrophoresis using a Tris-EDTA-borate buffer at pH 8.5. Electrophoresis in agar gel pH 6.2 was performed on samples presenting abnormal hemoglobin. Some 37 (1.91% of the newborns presented hemoglobinopathies, as follows: 29 (1.50% sickle cell trait (Hb FAS, 6 (0.31% heterozygous Hb C (Hb FAC, one (0.05% homozygous Hb S (Hb FS, and one (0.05% Hb Barts suggestive of alpha thalassemia. The results show the need to implement screening for

  1. Caracterização da interação de inositol hexafosfato e cloreto com hemoglobina humana: aspectos energéticos e estruturais

    OpenAIRE

    Silva, Vanessa de Cássia Teixeira da [UNESP

    2010-01-01

    A ligação do O2 à Hemoglobina (Hb) é um processo regulado por interações alostéricas. Os íons Inositol hexafosfato (IHP) e cloreto, e prótons, são efetores alostéricos que estabilizam a Hb na estrutura quaternária T, diminuindo a afinidade da proteina pelo O2 em meio alcalino. A ligação de IHP também altera a cooperatividade de algumas hemoglobinas como, por exemplo a hemoglobina desArg, uma variante da HbAo da qual o resíduo arginina 141 das cadeia alfas foram retirados enzimaticamente. Esta...

  2. 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.

  3. DETERMINAÇÃO DAS VARIANTES DE HEMOGLOBINA EM OVINOS MESTIÇOS SANTA INÊS

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    Rômulo Morais de Lacerda; Benito Soto-Blanco

    2006-01-01

    The knowledge of hemoglobin types may help in near future the selection of animals, serving as a genetic marker. The present work aimed to determine the types of hemoglobin in Santa Ines crossbreed sheep, and verify whether it has correlation with the erythron. It were collected 49 blood samples from different healthy Santa Ines crossbreed sheep, from Mossoró city, RN, Brazil. These samples were used for determination of packed cell volume, red blood cells counts, hemoglobin concentration, he...

  4. 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

  5. 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

  6. Eletroforese para detecção de hemoglobina fetal em pacientes do ambulatório de hematologia e hemoterapia do Conjunto Hospitalar de Sorocaba (CHS com anemia falciforme e uso de hidroxiuréia

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    Laura Damada Garcia

    2015-10-01

    Full Text Available Introdução: As hemoglobinopatias são distúrbios genéticos que se apresentam por padrão de herança recessiva e incluem a anemia falciforme e as síndromes falcêmicas (hemoglobinopatia SC e a S/β-talassemia. Na anemia falciforme as moléculas de adesão dos eritrócritos, leucócitos e plaquetas estão envolvidas na oclusão vascular. Nas síndromes falcêmicas, o quadro costuma ser mais brando. Pesquisas demonstram que o tratamento com hidroxiuréia (HU promove melhora da qualidade de vida dos pacientes que a utilizam. O mesmo tem se mostrado efetivo por aumentar a expressão de hemoglobina fetal (HbF, diminuindo assim as complicações de vaso-oclusão, hemólise e diminuição da expressão de moléculas de adesão. Objetivos: Nesta pesquisa, utilizamos o teste de eletroforese alcalina (pH 8,6 para o monitoramento de expressão da HbF nos pacientes do Ambulatório de Hematologia e Hemoterapia do CHS portadores de anemia falciforme e nos portadores de síndromes falcêmicas em tratamento com HU. Metodologia: Aplicou-se o teste de eletroforese em acetato de celulose em pH alcalino (8,6 e, posteriormente, as fitas de acetato submetidas ao campo elétrico foram coradas por Ponceau, transparentizadas e fixadas em lâminas de microscopia para análise e registro. Resultados: Foram realizados 100 testes cegos em amostras de sangue provenientes dos pacientes do Ambulatório de Anemia Falciforme do CHS, entre os quais analisamos 28 pacientes com anemia falciforme e 12 com síndromes falcêmicas. Na avaliação eletroforética do uso ou não uso de hidroxiuréia nos grupos investigados, observamos que não houve diferença significativa na expressão de HbF (p=0,3173. Além disso, comparamos os índices hematimétricos dos dois grupos e verificamos que os valores médios de VCM e HCM aumentaram em relação à concentração de HU utilizada, embora não tenham sido analisados estatisticamente.

  7. Influência da anemia ferropriva no eletroforetrograma de hemoglobina de leitões

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    Cruz, Nathan da Rocha Neves [UNESP

    2016-01-01

    A hemoglobina é uma proteína globular composta por fração protéica (cadeias de globina), fração heme onde ocorre a ligação do íon bivalente de ferro, sendo que, as globinas combinadas ajudam a tipificar as hemoglobina em Hb Adulta (Hb A), Fetal (Hb F) e Adulta 2 (Hb A2). Na deficiência de ferro, que pode culminar anemia por disfunção eritropoiética, prevalente em leitões e seres humanos, a hemoglobina pode ter alterações estruturais denominadas hemoglobinopatias. O estudo determinou a influên...

  8. 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

  9. 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

  10. 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

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    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

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    Daudt Liane Esteves

    2002-01-01

    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.

  13. Hemoglobinas anormales en la población neonatal de Costa Rica

    Directory of Open Access Journals (Sweden)

    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

  14. Concentrações de hemoglobina e ferritina sérica em escolares da rede pública municipal de Teresina, Piauí, Nordeste do Brasil Hemoglobin and serum ferritin concentrations in public school children from Teresina, in the State of Piauí, in Northeast Brazil

    Directory of Open Access Journals (Sweden)

    Marize Melo dos Santos

    2008-12-01

    Full Text Available OBJETIVOS: avaliar o estado nutricional de ferro em escolares de instituições públicas de ensino de Teresina, Piauí, Brasil. MÉTODOS: corte transversal, envolvendo amostra aleatória, selecionada em duas etapas, de 747 escolares (7-11 anos, de ambos os sexos, no período de agosto / setembro de 2000. A anemia foi rastreada em 747 escolares e para o diagnóstico adotou-se a concentração de hemoglobina (Hb OBJECTIVES: to assess iron nutritional status of public school children in Teresina, Piauí, Brazil. METHODS: a cross-sectional survey was conducted among 747 school children of both sexes, aged between seven and eleven years, who were randomly selected using a two-step sampling procedure, in August/September 2000. Children with hemoglobin (Hb concentrations less than 11.5 g/dL were evaluated as anemic and low body iron (Sfer< 15µg/L was evaluated in 207 children. RESULTS: the prevalence of anemia was 14.3% (95%CI 12.2-17.4 and of low body iron 20.3% (95%CI 15.2-26.6. Anemia and body iron depletion were not correlated with gender (p=0.60; p=0.96, respectively or age group (p=0.85; p=0.53, respectively. SFer was not correlated (r=0.1; p=0.168 with Hb concentrations. The prevalence of iron deficiency anemia (Hb< 11.5g/dL and SFer< 15.0µg/L was 26.3% (95%CI 17.3-37.5. CONCLUSIONS: iron deficiency and anemia seem to be a public health problem among school children in Teresina. Concerted action to prevent and control these conditions is strongly recommended. However, all anemia cannot be explained by iron deficiency. Therefore, it may be wise to consider other etiologies, such as micronutrient status, parasite infestation, hereditary disorders and exposure to environmental pollutants.

  15. Concentrações de hemoglobina em adolescentes e sua associação com as habilidades de ordenação temporal e atenção auditiva

    OpenAIRE

    Mendonça, Elisângela Barros Soares

    2013-01-01

    A anemia é um problema de saúde pública nos países em desenvolvimento e pode provocar repercussões no desenvolvimento neuropsicomotor, cognitivo, comprometendo a linguagem e a aprendizagem. As habilidades de ordenação temporal (OT) e atenção auditiva (AA) são importantes no desenvolvimento da linguagem e da aprendizagem. Avaliações eletrofisiológicas têm mostrado maior lentidão na condução do estímulo auditivo ao sistema nervoso central nos indivíduos anêmicos. Essa lentidão pode afetar as ha...

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

    OpenAIRE

    Ayres, Maria Consuêlo Caribé; Birgel Júnior, Eduardo Harry; Rosenfeld, A. M. F.; Birgel, Eduardo Harry

    2005-01-01

    p. 18-23 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 ...

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

    OpenAIRE

    A. M. F. Rosenfeld; E. H. Birgel Júnior; M. C. C. Ayres; E. H. Birgel

    2006-01-01

    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 rel...

  18. Anemia intrahospitalaria y descenso de hemoglobina en pacientes internados

    Directory of Open Access Journals (Sweden)

    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

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

    Directory of Open Access Journals (Sweden)

    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.

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

    OpenAIRE

    Elizabeth Hernández Urzúa; Jorge Membrillo Hernández

    2004-01-01

    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 dife...

  1. Determinação de eletrólitos, gases sanguíneos, osmolalidade, hematócrito, hemoglobina, base titulável e anion gap no sangue venoso de equinos destreinados submetidos a exercício máximo e submáximo em esteira rolante Determination of electrolytes, hemogasometry, osmalility, hematocrit, hemoglobin, base concentration, and anion gap in detrained equines submitted a maximum and submaximum exercise on treadmill

    Directory of Open Access Journals (Sweden)

    M.A.G. Silva

    2009-10-01

    Full Text Available Estudaram-se as alterações nos eletrólitos, nos gases sanguíneos, na osmolalidade, no hematócrito, na hemoglobina, nas bases tituláveis e no anion gap no sangue venoso de 11 equinos da raça Puro Sangue Árabe, destreinados, submetidos a exercício máximo e submáximo em esteira rolante. Esses animais passaram por período de três dias de adaptação à esteira rolante e posteriormente realizaram dois exercícios testes, um de curta e outro de longa duração. Foram coletadas amostras de sangue venoso antes, imediatamente após e 30 minutos após o término dos exercícios. Após a realização do exercício máximo, observou-se diminuição significativa no pHv, na PvCO2, no HCO3, na cBase além de elevação no AG. Detectou-se também aumento do K+, do Ht e da Hb. Ao final do exercício submáximo, constatou-se somente aumento significativo no pHv, na cBase, na SatvO2 e na PvO2. Conclui-se que os equinos submetidos a exercício máximo desenvolveram acidose metabólica e alcalose respiratória compensatória, hipercalemia e aumento nos valores de hematócrito e hemoglobina. No exercício submáximo, os animais apresentaram alcalose metabólica hipoclorêmica e não ocorreram alterações no equilíbrio hidroeletrolítico.Changes in electrolytes, blood gas, osmolality, hematocrit, hemoglobin, base concentration, and anion gap in 11 detrained Arabian horses during exercise on a high-speed treadmill were investigated. After a period of three days of adaptation on the rolling mat, the animals were submitted to two exercises: one of short (maximum and other of long duration (submaximum. Venous blood samples were obtained right before, and 30 minutes after the exercise. After the maximum exercise, it was observed a significative decrease in pHv, PvCO2, HCO3, and cBase and an increase in AG. It was also observed hypercalemia and increase in Ht and Hb. At the final of the submaximum exercise, it was observed significative increase in pH, c

  2. Triagem neonatal para hemoglobinopatias: um estudo piloto em Porto Alegre, Rio Grande do Sul, Brasil Neonatal screening for hemoglobinopathies: a pilot study in Porto Alegre, Rio Grande do Sul, Brazil

    Directory of Open Access Journals (Sweden)

    Liane Esteves Daudt

    2002-06-01

    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.This study was conducted to establish the frequency of hemoglobinopathies among newborns undergoing screening tests for metabolic diseases at the University Hospital (Hospital de Clínicas in Porto Alegre, Rio Grande do Sul, Brazil. Testing for abnormal hemoglobins was performed by isoelectric focusing electrophoresis on agarose gel with blood obtained by heel stick and applied to filter paper. For confirmatory testing of abnormal neonatal screening, a venopuncture blood sample was obtained from the infant and parents and then submitted to hemoglobin electrophoresis on cellulose acetate at pH 8.6 and citrate agar at pH 6.2. A total of 1,615 subjects were studied: 20 samples showed the Hb S pattern and six samples showed Hb C. Thus, frequency of the sickle cell

  3. Effects of Sorafenib on <em>C>-Terminally Truncated Androgen Receptor Variants in Human Prostate Cancer Cells

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    Mark Schrader

    2012-09-01

    Full Text Available Recent evidence suggests that the development of castration resistant prostate cancer (CRPCa is commonly associated with an aberrant, ligand-independent activation of the androgen receptor (AR. A putative mechanism allowing prostate cancer (PCa cells to grow under low levels of androgens, is the expression of constitutively active, <em>C>-terminally truncated AR lacking the AR-ligand binding domain (LBD. Due to the absence of a LBD, these receptors, termed ARΔLBD, are unable to respond to any form of anti-hormonal therapies. In this study we demonstrate that the multikinase inhibitor sorafenib inhibits AR as well as ARΔLBD-signalling in CRPCa cells. This inhibition was paralleled by proteasomal degradation of the AR- and ARΔLBD-molecules. In line with these observations, maximal antiproliferative effects of sorafenib were achieved in AR and ARΔLBD-positive PCa cells. The present findings warrant further investigations on sorafenib as an option for the treatment of advanced AR-positive PCa.

  4. <em>ATM> sequence variants and risk of radiation-induced subcutaneous fibrosis after postmastectomy radiotherapy

    DEFF Research Database (Denmark)

    Andreassen, Christian Nicolaj; Overgaard, Jens; Alsner, Jan

    2006-01-01

    PURPOSE: To examine the hypothesis that women who are carriers of genetic alterations in the ATM gene are more likely to develop subcutaneous fibrosis after radiotherapy for treatment of breast cancer compared with patients who do not possess DNA sequence variations in this gene. METHODS AND MATE......PURPOSE: To examine the hypothesis that women who are carriers of genetic alterations in the ATM gene are more likely to develop subcutaneous fibrosis after radiotherapy for treatment of breast cancer compared with patients who do not possess DNA sequence variations in this gene. METHODS...... AND MATERIALS: DNA samples isolated from fibroblast cell lines established from 41 women treated with postmastectomy radiotherapy for breast cancer were screened for genetic variants in ATM using denaturing high-performance liquid chromatography (DHPLC). A minimum follow-up of 2 years enabled analysis of late...... alteration. This resulted in an enhancement ratio (ratio of the ED50 values) of 1.13 (1.05-1.22), which was significantly greater than unity. CONCLUSION: The results of this study suggest an association between the ATM codon 1853 Asn/Asp and Asn/Asn genotypes with the development of Grade 3 fibrosis...

  5. 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.

  6. 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.

  7. Perfil hematimétrico e identificação da hemoglobina do bicho preguiça Bradypus variegatus

    OpenAIRE

    Ferrari Ramos, Francimar

    2006-01-01

    O objetivo deste estudo foi, em preguiças Bradypus variegatus, estabelecer o perfil hematimétrico e identificar os tipos de hemoglobina (Hb), além de avaliar se existe influência do sexo sobre estes parâmetros. Estudou-se 10 preguiças (6 machos e 4 fêmeas), não anestesiadas, mantidas em cativeiro, pesando (X±DP) 3,6±0,79kg e com temperatura retal média de 30±1oC. Coleta de sangue, através de punção da veia cefálica medial do membro anterior, foi obtida para realização da hematimetria, do esfr...

  8. HEMOGLOBINA GLICOSILADA O HEMOGLOBINA GLICADA, ¿CUÁL DE LAS DOS? | GLYCOSILATED HEMOGLOBIN OR GLYCATED HEMOGLOBIN, WHICH OF THE TWO?

    Directory of Open Access Journals (Sweden)

    Mariela Bracho-Nava

    2015-11-01

    Full Text Available Resumen La hemoglobina A1c (HbA1c constituye un fiel indicador para evaluar los pacientes diabéticos y gracias a la estandarización alcanzada en la prueba, es el primer criterio de diagnóstico de diabetes en individuos asintomáticos o con sospecha clínica de esta enfermedad, de acuerdo con la American Diabetes Association (ADA. Se define a la HbA1c, según la International Federation of Clinical Chemistry (IFCC, como un término genérico referido a un grupo de sustancias que se forman a partir de reacciones bioquímicas entre la hemoglobina A (HbA y algunos azúcares reductores presentes en la circulación sanguínea, siendo la glucosa el más abundante de ellos. Esta reacción es conocida con el nombre de reacción de Maillard, la cual se basa en una glicosilación no enzimática o más correctamente denominada, una glicación. La costumbre, desconocimiento o confusión entre ambos procesos químicos ha llevado a que se siga haciendo uso del término de hemoglobina glicosilada en vez de hemoglobina glicada. En el presente artículo se ofrece una revisión del proceso de formación de la hemoglobina A1c, definiendo la reacción de glicosilación y glicación de una proteína, las especies químicas que favorecen la glicación, las características del proceso de glicación de la hemoglobina, las etapas en las cuales se da y los efectos relacionados con la glicación de proteínas en los seres humanos, para finalmente concluir con un pasaje de las denominaciones que ha recibido la HbA1c hasta el presente; todo con el objetivo de esclarecer y dar propiedad al empleo de la denominación de hemoglobina glicada Abstract Hemolobin A1c (HbA1c has become a faithful indicator to monitor diabetic patients and thanks to the standardization achieved in the test, is the first step for diagnosis of diabetes in asymptomatic individuals or with clinical suspicion of the disease, according to the American Diabetes Association (ADA. HbA1c is defined

  9. 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

    Full Text Available Objetivos: Determinar quais são os métodos analí- ticos de A1C usados nos laboratórios de análises clínicas da Serra Gaúcha e quais são certificados pelo National Glycohemoglobin Standardization Program (NGSP. Métodos: Foram coletados dados referentes ao mé- todo de dosagem de A1C e à marca do kit usado, bem com se o teste era realizado no próprio laboratório ou em laboratórios terceirizados. Os procedimentos foram classificados segundo a certificação ou não pelo NGSP. Resultados: Em uma amostra de 15 laboratórios, 73,3% realizavam os testes em suas dependências e 26,7% enviavam suas amostras para laboratórios terceirizados. Somente 46,6% dos laboratórios utilizavam métodos certificados pelo NGSP. 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

  10. 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

  11. 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

  12. 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.

  13. 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

  14. 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...

  15. Focalização isoelétrica na identificação das hemoglobinas The isoelectric focusing for hemoglobin identification

    Directory of Open Access Journals (Sweden)

    Luciane Cristina Bertholo

    2006-06-01

    Full Text Available INTRODUÇÃO: Considerando a significativa freqüência das hemoglobinopatias na população brasileira e a necessidade do estabelecimento de metodologia confiável, rápida, reprodutível e possível de ser aplicada a um grande número de amostras, foi objetivo desse trabalho analisar as diferenças observadas pelas metodologias eletroforéticas em acetato de celulose e em ágar amido em comparação com a focalização isoelétrica (IEF e o estabelecimento de um padrão amostral apresentando as principais posições das hemoglobinas anormais, com enfoque nas observadas na população brasileira. CASUÍSTICA E MÉTODOS: O material de estudo foi constituído por amostras de sangue de pacientes laboratoriais e doadores pertencentes à região central do estado de São Paulo, Brasil, e nelas aplicamos os testes de rotina laboratorial. Para efeito de comparação e validade das provas laboratoriais, correlacionamos os resultados dos testes com a técnica de focalização isoelétrica. RESULTADOS E DISCUSSÃO: Os resultados observados em cada procedimento, somados aos dados de literatura, permitiram estabelecer padrões de migração para cada sistema eletroforético das hemoglobinas observadas na população brasileira. Dessa forma foram estruturados quadros com a possibilidade do uso dos mesmos evidenciando a facilidade e a viabilidade dessa técnica por diferentes laboratórios.BACKGROUND: Considering the significant frequency of hemoglobinopathies in the Brazilian population and the necessity of establishing a reliable methodology, quick, reproductive and possible to be applied in a large number of samples, it was the objective of this work to analyze the differences on electrophoretic procedures with cellulose acetate and acid agar compared with isoelectric focusing (IEF, and to establish a standard of migration, presenting main positions of abnormal hemoglobin, based on Brazilian population hemoglobin. MATERIAL AND METHOD: The studied material

  16. <em>Plasmodium falciparumem> parasites expressing pregnancy-specific variant surface antigens adhere strongly to the choriocarcinoma cell line BeWo

    DEFF Research Database (Denmark)

    Haase, Rikke N; Megnekou, Rosette; Lundquist, Maja

    2006-01-01

    Placenta-sequestering Plasmodium falciparum parasites causing pregnancy-associated malaria express pregnancy-specific variant surface antigens (VSA(PAM)). We report here that VSA(PAM)-expressing patient isolates adhere strongly to the choriocarcinoma cell line BeWo and that the BeWo line can...... be used to efficiently select for VSA(PAM) expression in vitro....

  17. Importância da avaliação da hemoglobina fetal na clínica da anemia falciforme The importance of the evaluation of fetal hemoglobin in the clinical assessment of sickle cell disease

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    Rita de Cassia Mousinho-Ribeiro

    2008-04-01

    Full Text Available A anemia falciforme está entre as doenças genéticas mais comuns e mais estudadas em todo o mundo. Ela é causada por mutação no gene β, produzindo alteração estrutural na molécula da hemoglobina. As moléculas de HbS, decorrentes da mutação, sofrem processo de polimerização fisiologicamente provocado pela baixa tensão de oxigênio, acidose e desidratação. Com isso, os eritrócitos passam a apresentar a forma de foice, causando vaso-oclusão e outras conseqüências. O objetivo desse estudo foi revisar a importância da hemoglobina fetal na clínica de pacientes portadores de anemia falciforme. O significado clínico da associação da elevação da hemoglobina fetal na anemia falciforme mostra-se favorável em termos hematológicos, pois, nessa interação, as células-F têm baixas concentrações de HbS e, com isso, inibem a polimerização da HbS e a alteração da morfologia dos eritrócitos. O tratamento com hidroxiuréia, em função do aumento na expressão da hemoglobina fetal que este fármaco proporciona, traz aos pacientes falcêmicos uma melhora significativa em sua clínica. Portanto, a hemoglobina fetal consiste no maior inibidor da polimerização da desoxi-HbS e, com isso, evita a falcização do eritrócito, a anemia hemolítica crônica, as crises dolorosas vaso-oclusivas, o infarto e a necrose em diversos órgãos, melhorando a clínica e a expectativa de vida dos pacientes.Sickle cell disease is one of the commonest and most studied genetic diseases in the world. Caused by a mutation of the β gene, it changes the molecular structure of hemoglobin. Abnormal Hb S molecules suffer polymerization physiologically provoked by a low oxygen tension, acidosis and dehydration. As a result, red blood cells take on a sickle cell form, which causes microvascular occlusion with varying consequences. The objective of this study was to review the importance of fetal hemoglobin in the clinical assessment of sickle cell

  18. 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

    . To test this, we analyzed exome-array data from up to 33,231 non-diabetic individuals of European ancestry. We found exome-wide significant (P... and functional effects was only possible when haplotype phase was considered. In contrast to earlier reports suggesting that, paradoxically, glucose-raising alleles at this locus are protective against type 2 diabetes (T2D), the p.Val219Leu G6PC2 variant displayed a modest but directionally consistent...

  19. 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 blood...... of clinically immune pregnant women also express VSA(PAM), making them a convenient source of VSA(PAM) expressors for PAM vaccine research....

  20. Valores poblacionales de hemoglobina y hematocrito en el área rural del municipio de Manizales Caldas 1999

    OpenAIRE

    Giraldo Arias, Clara; Córdoba Quintero, Matha Lucía

    2011-01-01

    Se trata de un estudio descriptivo exploratorio para determinar valores poblacionales de hemoglobina y hematocrito del área rural de Manizales, de acuerdo al sexo, edad, condición de salud y clasificación nutricional. Nicolás Pérez Almanza, José Arnoby Chacón, Fabio Antonio Galeano

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

    Science.gov (United States)

    Mountassif, Driss; Fabre, Lucien; Zaid, Younes; Halawani, Dalia; Rouiller, Isabelle

    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. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. 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

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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

  5. 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.

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

    International Nuclear Information System (INIS)

    Mountassif, Driss; Fabre, Lucien; Zaid, Younes; Halawani, Dalia; Rouiller, Isabelle

    2015-01-01

    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 R155P and p97 A232E decrease the ability of p97 to bind to its co-factor Npl4. • p97 R155P has a different isoelectric point than that of p97 R95G , p97 A232E and p97 WT . • Mutation R155P changes principally the conformation of the D2 ring. • Mutation R155P modifies the interface between two protomers within the D2 ring.

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

    Directory of Open Access Journals (Sweden)

    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.

  8. 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

    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.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

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

    Directory of Open Access Journals (Sweden)

    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

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

    Directory of Open Access Journals (Sweden)

    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.

  11. Cellulase variants

    Science.gov (United States)

    Blazej, Robert; Toriello, Nicholas; Emrich, Charles; Cohen, Richard N.; Koppel, Nitzan

    2015-07-14

    This invention provides novel variant cellulolytic enzymes having improved activity and/or stability. In certain embodiments the variant cellulotyic enzymes comprise a glycoside hydrolase with or comprising a substitution at one or more positions corresponding to one or more of residues F64, A226, and/or E246 in Thermobifida fusca Cel9A enzyme. In certain embodiments the glycoside hydrolase is a variant of a family 9 glycoside hydrolase. In certain embodiments the glycoside hydrolase is a variant of a theme B family 9 glycoside hydrolase.

  12. 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

    Directory of Open Access Journals (Sweden)

    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

  13. Algunos aspectos de actualidad sobre la hemoglobina glucosilada y sus aplicaciones Some updated features on glycosylated hemoglobin and its applications

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    Eduardo Álvarez Seijas

    2009-12-01

    Full Text Available La hemoglobina glucosilada es un examen que mide la cantidad de hemoglobina que se glucosila en la sangre, y brinda un buen estimado del control glucémico durante los últimos 3 meses en personas prediabéticas y diabéticas, por lo que habitualmente se utiliza en el monitoreo de esta enfermedad. Un comité de expertos en diabetes, formado en el año 2008, analizó la relación entre la exposición glucémica a largo plazo y las complicaciones crónicas de la diabetes mellitus, y recomienda esta prueba como una nueva herramienta diagnóstica para esta enfermedad. Por la importancia de este tema para la práctica médica, se realiza una descripción actualizada de los antecedentes, metodología, interpretaciones y usos de este examen.Glycosylated hemoglobin is an examination measuring the amount of hemoglobin glycosylated in blood and gave a good estimated of the glycemia control during the last three months in prediabetic and diabetic persons, thus, usually it is used in monitoring of this disease. An expert committee on diabetes created in 2008, analyzed the relationship between the long-term glycemia exposition and the chronic complications of diabetes mellitus, and recommended this type of test as a new diagnostic tool for this disease. Due to the significance of this topic for medical practice, an updated description of backgrounds, methodology, interpretation and uses of this examination is performed.

  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. Comparación de tres métodos de medición de hemoglobina en cirugía cardiaca

    OpenAIRE

    Cegarra Sanmartin, Virginia

    2012-01-01

    Durante la cirugía cardiaca con circulación extracorpórea (CEC) el umbral transfusional hemático está basado en el valor de las cifras de hemoglobina y/o hematocrito. Estos valores se obtienen mediante las máquinas tipo “point-of-care testing” (POCT) que están presentes en quirófano y en las unidades de reanimación. En nuestro centro hay distintos tipos de máquinas POCT. Todas miden la cantidad de hemoglobina y/o el porcentaje de hematocrito pero cada una de ellas utiliza una metodología dife...

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

    Directory of Open Access Journals (Sweden)

    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.

  17. Functional behavior of tortoise hemoglobin Geochelone denticulata Comportamento funcional da hemoglobina da tartaruga Geochelone denticulata

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    M. A. TORSONI

    2002-11-01

    Full Text Available The hemolysate from Geochelone denticulata contains two main hemoglobin components, as shown by ion exchange chromatography and polyacrylamide gel electrophoresis (PAGE. Electrophoresis under dissociating conditions showed three types of globin chains. The apparent molecular mass, as determined by gel filtration on Sephadex G-200, was compatible with tetrameric Hb, which was unable to polymerize. The G. denticulata Hb has a P50 value of 9.56 mm Hg at pH 7.4. The Hb oxygenation appears to be under the control of organic phosphates and hydrogen ion since it is strongly affected by those species. In the presence ATP or IHP the P50 values increased to 29.51 mm Hg and 54.95 mm Hg, respectively, at pH 7.4. The n50 was generally lower than 1.5 in stripped Hb, suggesting a dissociation of tetramers. In the presence of organic phosphates n50 values increased to approximately 2.5. The Bohr effect was evident in oxygen equilibrium experiments. The hematocrit (32% and Hb concentration (5.7 mM as heme of G. denticulata blood were substantially larger than those of G. carbonaria, but the methemoglobin levels were similar in both species, approximately 1%. Thus, the oxygen capacity of blood appears to be higher in G. denticulata than in G. carbonaria, particularly considering the functional properties of their Hbs, which would guarantee the survival of animals.O hemolisado de Geochelone denticulata contém dois componentes principais, de acordo com a cromatografia de troca iônica e PAGE. Eletroforese sob condições dissociantes mostrou 3 tipos de cadeias de globina. A massa molecular aparente, determinada pela filtração em gel sobre Sephadex G-200, foi compatível com Hb tetramérica que foi incapaz de polimerizar. A Hb de G. denticulata tem valor de P50 de 9,56 mm Hg em pH 7,4. A oxigenação da Hb parece estar sob controle de fosfatos orgânicos e íons hidrogênio, uma vez que ela é fortemente afetada por essas espécies. Na presença de ATP ou IHP, os

  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

    Directory of Open Access Journals (Sweden)

    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. Holoprosencephaly Variant

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    J Gordon Millichap

    2003-01-01

    Full Text Available The clinical manifestations in 15 patients (6 boys and 9 girls with middle interhemispheric variant (MIH of holoprosencephaly (HPE were compared with classic subtypes (alobar, semilobar, and lobar of HPE in a multicenter study at Stanford University School of Medicine and Lucile Packard Children’s Hospital; Children’s Hospital of Philadelphia; University of California at San Francisco; Texas Scottish Rite Hospital, Dallas; and Kennedy Krieger Institute, Baltimore, MD.

  1. 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

    Directory of Open Access Journals (Sweden)

    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

  2. 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.

  3. 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

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

    OpenAIRE

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

    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. Avaliação eletroforética, cromatográfica e molecular da Hb D Los Angeles no Brasil

    OpenAIRE

    Chinelato-Fernandes Ana R.; Leoneli Guilherme G.; Calderan Patrícia O.; Oliveira Rute Blasi de; Silva Jr. Wilson Araújo da; Hidalgo Claudia Augusta; Bonini- Domingos Claudia Regina

    2003-01-01

    A variante de hemoglobina (Hb) D mais comum, Hb D Los Angeles ou D Punjab, é originada de uma transversão GAA->CAA no códon 121 da globina beta; essa mutação resulta na substituição do ácido glutâmico por glutamina na proteína. É a terceira variante de hemoglobina mais freqüente da população brasileira. Como as hemoglobinas D apresentam migração similar à hemoglobina S em pH alcalino, e com a hemoglobina A em pH ácido, são necessários vários testes para o correto diagnóstico. No presente estu...

  6. 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...

  7. Effect of the interaction between diet composition and the <em>PPM1Kem> genetic variant on insulin resistance and <em>β> cell function markers during weight loss: results from the Nutrient Gene Interactions in Human Obesity: implications for dietary guidelines (NUGENOB) randomized trial

    DEFF Research Database (Denmark)

    Goni, Leticia; Qi, Lu; Cuervo, Marta

    2017-01-01

    Background: Circulating branched-chain amino acids (BCAAs) and aromatic amino acids (AAAs) have been shown to be associated with insulin resistance and diabetes risk. The common rs1440581 T allele in the protein phosphatase Mg2+/Mn2+ dependent 1K (PPM1K) gene has been related to elevated BCAA...... concentrations and risk of type 2 diabetes.Objective: In the present study, we tested whether dietary fat and carbohydrate intakes influenced the association between the rs1440581 PPM1K genetic variant and glucose-metabolism traits during weight loss.Design: The rs1440581 PPM1K genetic variant was genotyped...... in a total of 757 nondiabetic individuals who were randomly assigned to 1 of 2 energy-restricted diets that differed in macronutrient composition (low-fat diet: 20-25% fat, 15% protein, and 60-65% carbohydrate; high-fat diet: 40-45% fat, 15% protein, and 40-45% carbohydrate). The changes in fasting glucose...

  8. A carga glicémica e as dietas hiperproteicas em cardiologia.

    OpenAIRE

    Santos, Alejandro

    2008-01-01

    São muitos os trabalhos que indicam que uma glicemia pós-prandial exagerada coloca indivíduos sem diabetes em maior risco de desenvolver doença cardiovascular. A maior elevação da glicemia (nos 120 minutos pós-refeição) e da hemoglobina glicada (HbA1c) estão associadas de forma independente à morbilidade e mortalidade cardiovascular em indivíduos não diabéticos. (...)

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

    Directory of Open Access Journals (Sweden)

    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. 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

  12. 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

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    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

  13. CDKL5 variants

    Science.gov (United States)

    Kalscheuer, Vera M.; Hennig, Friederike; Leonard, Helen; Downs, Jenny; Clarke, Angus; Benke, Tim A.; Armstrong, Judith; Pineda, Mercedes; Bailey, Mark E.S.; Cobb, Stuart R.

    2017-01-01

    Objective: To provide new insights into the interpretation of genetic variants in a rare neurologic disorder, CDKL5 deficiency, in the contexts of population sequencing data and an updated characterization of the CDKL5 gene. Methods: We analyzed all known potentially pathogenic CDKL5 variants by combining data from large-scale population sequencing studies with CDKL5 variants from new and all available clinical cohorts and combined this with computational methods to predict pathogenicity. Results: The study has identified several variants that can be reclassified as benign or likely benign. With the addition of novel CDKL5 variants, we confirm that pathogenic missense variants cluster in the catalytic domain of CDKL5 and reclassify a purported missense variant as having a splicing consequence. We provide further evidence that missense variants in the final 3 exons are likely to be benign and not important to disease pathology. We also describe benign splicing and nonsense variants within these exons, suggesting that isoform hCDKL5_5 is likely to have little or no neurologic significance. We also use the available data to make a preliminary estimate of minimum incidence of CDKL5 deficiency. Conclusions: These findings have implications for genetic diagnosis, providing evidence for the reclassification of specific variants previously thought to result in CDKL5 deficiency. Together, these analyses support the view that the predominant brain isoform in humans (hCDKL5_1) is crucial for normal neurodevelopment and that the catalytic domain is the primary functional domain. PMID:29264392

  14. Suplementação oral com picolinato de cromo em pacientes com diabetes tipo 2: um ensaio clínico randomizado

    OpenAIRE

    Paiva, Ana Nunes

    2015-01-01

    Diante da importância do papel do cromo no mecanismo da sensibilidade à insulina tem sido estudada a suplementação com este mineral em pacientes diabéticos. Assim, o objetivo deste estudo foi avaliar o efeito da suplementação oral com picolinato de cromo (PicCr) nas concentrações glicêmicas, lipidêmicas, perfil antioxidante e parâmetros antropométricos em pacientes com diabetes mellitus tipo 2 (DM2) mal controlados(hemoglobina glicada A1c (HbA1c) ≥ 7%). Para tanto, foi conduzido um ensaio clí...

  15. Variants of cellobiohydrolases

    Energy Technology Data Exchange (ETDEWEB)

    Bott, Richard R.; Foukaraki, Maria; Hommes, Ronaldus Wilhelmus; Kaper, Thijs; Kelemen, Bradley R.; Kralj, Slavko; Nikolaev, Igor; Sandgren, Mats; Van Lieshout, Johannes Franciscus Thomas; Van Stigt Thans, Sander

    2018-04-10

    Disclosed are a number of homologs and variants of Hypocrea jecorina Ce17A (formerly Trichoderma reesei cellobiohydrolase I or CBH1), nucleic acids encoding the same and methods for producing the same. The homologs and variant cellulases have the amino acid sequence of a glycosyl hydrolase of family 7A wherein one or more amino acid residues are substituted and/or deleted.

  16. Prevalência da fragilidade entre os pacientes com doença renal crônica em tratamento conservador e em diálise

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    Henrique Novais Mansur

    2012-06-01

    Full Text Available INTRODUÇÃO: Fragilidade é um estado de vulnerabilidade fisiológica do paciente que se associa ao maior número de hospitalização e óbito. OBJETIVOS: Avaliar a prevalência de fragilidade e os fatores a ela associados em pacientes com doença renal crônica (DRC em tratamento conservador (TC, hemodiálise (HD e diálise peritoneal (DP. MÉTODOS: A fragilidade foi avaliada em 146 pacientes (86 em TC, 37 em HD e 23 em DP e caracterizada como fraqueza muscular e exaustão - pelos domínios do aspecto físico e da vitalidade, respectivamente, avaliados pelo questionário SF-36 de qualidade de vida; como inatividade física caso a resposta fosse "nunca" ou "quase nunca" - quando questionado sobre a prática de atividade física; e como perda de peso não intencional (> 4,5 kg por ano. Os pacientes foram divididos em três grupos: não frágeis (NF, pré-frágeis (PF e frágeis (F. As variáveis demográficas, clínicas e laboratoriais foram extraídas dos prontuários dos pacientes. RESULTADOS: A fragilidade foi caracterizada em 36% dos pacientes em TC, 37,8% em HD e 47,8% em DP. Foi diagnosticada em 36,8% dos pacientes com idade entre 20 e 40 anos e 40,3% daqueles entre 41 e 60 anos. A fragilidade associou-se significativamente ao uso de vitamina D (r = 0.16; p = 0.03, hemoglobina (r = -0.14; p = - 0.02 e paratormônio intacto (r = 0.16; p = 0.03. CONCLUSÕES: A fragilidade é frequente entre os pacientes com DRC em tratamento conservador e dialítico, mesmo naqueles não idosos. Nos pacientes estudados, o fenótipo de fragilidade se associou com o não uso de vitamina D, menores níveis séricos de hemoglobina e níveis mais elevados de paratormônio.

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

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    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

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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.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

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    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. Migraine Variants in Children

    Science.gov (United States)

    ... Headaches in Children FAQ Migraine Variants In Children Children Get Migraines Too! Learn More Migraine Information Find Help Doctors & Resources Get Connected Join the Conversation Follow Us on Social Media Company About News Resources Privacy Policy Contact Phone: ...

  1. 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.

  2. Influencia de la parasitemia sobre los valores de hemoglobina y anemia en niños con malaria por Plasmodium falciparum no complicada: experiencia en un hospital de Tanzania

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    Melkzedeck P. Mansi

    2007-01-01

    Full Text Available Objetivos: Analizar la importancia de la parasitemia, su relación con los valores de hemoglobina y anemia en niños internados con malaria por Plasmodium falciparum no complicada, y su potencial uso como variable en la predicción de la hemoglobina y la anemia. Materiales y Métodos: Se realizó un estudio clínico epidemiológico en el Hospital de Nzega, provincia de Tabora, Tanzania entre el 2001-2005, haciendo el diagnóstico con gota gruesa y extendido para investigar la presencia de hemoparásitos. Resultados: En el período de estudio fueron evaluados 165 pacientes con una edad media de 4,1 años (61,2% <5 años. La malaria se confirmó en 87,3% de ellos (100% por P. falciparum. La densidad parasitaria media fue de nueve parásitos por cada 200 glóbulos blancos (IC95% 6,69-11,24 y su Hb 8,4 (±1,6g/dL (82,42% con anemia. La edad y la parasitemia fueron predictores significativos de la anemia (F=13,622; p<0,001, teniendo mayor importancia la parasitemia (p=0,001 que la edad (p=0,014. Conclusión: El nivel de parasitemia de P. falciparum se asocia significativamente con menores niveles de hemoglobina en niños.

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

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    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.

  4. Intoxicação experimental por Indigofera suffruticosa em caprinos e ovinos

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    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.

  5. 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

  6. Parâmetros hematológicos e bioquímicos do surubim do Iguaçu (Steindachneridion melanodermatum criados em tanques-rede

    Directory of Open Access Journals (Sweden)

    Micheli Zaminhan

    2017-06-01

    Full Text Available O surubim do Iguaçu (S. melanodermatum é o maior pimelodídeo do Rio Iguaçu, podendo atingir até 15,0 kg e 70,0 cm de comprimento. Porém, escassos são os estudos sobre sua fisiologia principalmente em relação às características hematológicas e bioquímicas da espécie, que são fundamentais por contribuírem na compreensão fisiológica, filogenética e o estado de saúde dos peixes. Dentro desse intuito, o presente trabalho avaliou as características hematológicas e bioquímicas do Surubim do Iguaçu cultivados em tanques – rede. Determinou-se os seguintes parâmetros: concentração de hemoglobina, percentual de hematócrito, contagem de eritrócitos, volume corpuscular médio (VCM, hemoglobina corpuscular média (HCM, concentração de hemoglobina corpuscular média (CHCM. Para os parâmetros bioquímicos determinou–se: glicose plasmática, proteínas totais, colesterol total e triglicerídeos. Os parâmetros hematológicos e bioquímicos observados no surubim do Iguaçu S. melanodermatum  fornecem valores sanguíneos que poderão servir de comparação, para mesma espécie em outras situações de cultivo.

  7. 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

  8. 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

  9. 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

  10. Possíveis associações entre marcadores genético-bioquímicos e sensibilidade a mastite em vacas da raça holandês, pura por cruzamento, variedade malhada de preto, em ambiente tropical

    OpenAIRE

    Repetti, Leandro [UNESP

    2003-01-01

    A mastite é um processo inflamatório da glândula mamária, aguda ou crônica, freqüente em ruminantes, sendo consideráveis as perdas econômicas por tal patologia, por desencadear inúmeros problemas sanitários para a pecuária leiteira. Portanto, a análise do polimorfismo dessas proteínas constitui-se numa importante ferramenta para o melhoramento genético do rebanho leiteiro. Neste trabalho, foram analisadas possíveis associações entre o polimorfismo bioquímico das hemoglobinas, transferrinas, a...

  11. Estudo do efeito da hidroxiuréia no mecanismo de gelatinização das suspensões de colágeno e de hemoglobina.

    OpenAIRE

    Alves, Ellen Denise Lopes

    2014-01-01

    Programa de Pós-Graduação em Engenharia de Materiais. Rede Temática em Engenharia de Materiais, Pró-Reitoria de Pesquisa e Pós-Graduação, Universidade Federal de Ouro Preto. A hidroxiuréia, antineoplásico potente usado no tratamento de vários tipos de câncer e na síndrome da imunodeficiência adquirida, é um inibidor eficiente na síntese de DNA de células humanas e bacterianas, e também é considerada a principal droga ministrada em pacientes com anemia falciforme. A anemia falciforme é cons...

  12. Variants of glycoside hydrolases

    Science.gov (United States)

    Teter, Sarah [Davis, CA; Ward, Connie [Hamilton, MT; Cherry, Joel [Davis, CA; Jones, Aubrey [Davis, CA; Harris, Paul [Carnation, WA; Yi, Jung [Sacramento, CA

    2011-04-26

    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.

  13. Impacto do uso de cereal adicionado de ferro sobre os níveis de hemoglobina e a antropometria de pré-escolares Effect of the use of iron-enriched cereal on the serum hemoglobin levels and anthropometric values of preschool children

    Directory of Open Access Journals (Sweden)

    Márcia Regina Vítolo

    1998-12-01

    Full Text Available A anemia na infância tem sido considerada um dos grandes desafios nutricionais nos países em desenvolvimento, seguida da desnutrição energética. Têm-se discutido muito a eficácia dos alimentos enriquecidos no combate a esse problema. O objetivo desse trabalho foi avaliar a aceitação diária de cereal adicionado de ferro e o seu impacto nos parâmetros antropométricos e nos níveis de hemoglobina de crianças de 1 a 4 anos de idade. Foram estudadas 54 crianças de uma creche municipal, de duas salas, sendo o grupo I constituído de 24 crianças com média de idade 2 anos e 2 meses e o grupo II constituído de 30 crianças de 3 anos e 6 meses. Essas crianças foram avaliadas, no início e no final da intervenção, quanto à ingestão alimentar, peso, estatura e níveis de hemoglobina sérica. Durante o período de dois meses, o café da manhã e o lanche da tarde, que eram constituídos de leite e pão, foram substituídos pelo cereal adicionado de ferro na forma de mingau, o que proporcionou aumento de 2 a 3mg de ferro por dia. Os resultados mostraram que houve aumento significante na adequação do índice P/E das crianças com desnutrição atual. Quanto aos níveis de hemoglobina sérica, o grupo I, cujo valor médio inicial foi de 9,9 ± 2,0g/dl, apresentou valor médio significantemente mais alto ao final do estudo, 11,4 ± 1,0g/dl (pAnemia and energetic malnutrition are considered to be the major nutritional challenges in developing countries. The efficacy of the various programs implemented to solve these problems has been assessed by studies with enriched food products. The objective of the present study was to evaluate the daily acceptance of an iron-enriched cereal, as well as its effect on the anthropometric parameters and hemoglobin levels of children aged 1 to 4 years old. Fifty-four children enrolled at a public day care unit participated in the study. They were divided into two groups: Group I with 24 children (median

  14. Niveles de hemoglobina en gestantes atendidas en establecimientos del Ministerio de Salud del Perú, 2011 Hemoglobin levels in pregnant women seen in health care centers of the peruvian ministry of health, 2011

    Directory of Open Access Journals (Sweden)

    Oscar Munares-García

    2012-09-01

    Full Text Available Objetivos. Determinar los niveles de hemoglobina y la prevalencia de anemia en gestantes atendidas en los establecimientos del Ministerio de Salud a nivel nacional. Materiales y métodos. Estudio transversal donde se analizó la base de datos del Sistema de Información del Estado Nutricional del Niño menor de 5 años y de la Gestante (SIEN. Se incluyó 287 691 registros de gestantes evaluadas en establecimientos del Ministerio de Salud del Perú en 2011, se analizaron los niveles de hemoglobina corregida a la altura, edad, edad gestacional, altitud a nivel del mar y prevalencia de anemia (leve, moderada y grave. Se aplicaron estadísticas descriptivas y chi cuadrado. Resultados. La prevalencia a nivel nacional de anemia en la gestante fue de 28,0% siendo anemia leve de 25,1%, moderada de 2,6% y grave de 0,2%. Los niveles de hemoglobina son mayores en mujeres con mayor edad y menores durante los primeros meses de gestación, la frecuencia de anemia decrece con la altitud. Asimismo, la prevalencia es mayor en departamentos de la sierra. Huancavelica fue el departamento con mayor prevalencia de anemia (53,6%, seguido de Puno con 51,0%. Conclusiones. Los niveles de hemoglobina son mayores conforme la edad materna es mayor, y menores conforme el trimestre de gestación y altitud. Huancavelica tiene la mayor prevalencia de anemia en gestantesObjectives. Determine hemoglobin levels and prevalence of anemia in pregnant women seen in health care centers of the Ministry of Health at national level. Materials and methods. Cross-cut study where the database of the Information System on the Nutritional Health of Children under 5 and Pregnant Women (SIEN were analyzed. 287 691 records of pregnant women examined at the health care centers of the Peruvian Ministry of Health in 2011 were included, hemoglobin levels corrected by height, age, gestational age, altitude and prevalence of anemia (light, moderate and serious were analyzed. Descriptive statistics and

  15. Smoky indoor cooking fires are associated with elevated hemoglobin concentration in iron-deficient women Asocian el fuego con humo para cocinar dentro de la vivienda con concentraciones elevadas de hemoglobina en mujeres con deficiencia de hierro

    Directory of Open Access Journals (Sweden)

    Lynnette M. Neufeld

    2004-02-01

    combustión de materiales bioorgánicos utilizados como combustible, tales como la madera y los desechos agrícolas, está asociada con un mayor riesgo de padecer problemas respiratorios. Su efecto sobre otros aspectos de la salud, como el crecimiento fetal, no ha sido aún documentado adecuadamente. El objetivo del presente estudio, realizado en mujeres que utilizan combustible bioorgánico para cocinar en el interior de sus viviendas, fue determinar si el empleo de fuego "con humo" se asocia con una mayor concentración de hemoglobina en comparación con el uso de fogones "sin humo," es decir, cocinas diseñadas para reducir el nivel de contaminación del aire en el interior de las viviendas. Esta investigación es parte de una serie de estudios preliminares realizados para determinar la factibilidad y los posibles beneficios para la salud de una intervención aleatorizada dirigida a las cocinas, con el fin de reducir la contaminación del aire doméstico provocada por el empleo de combustibles bioorgánicos para cocinar. MÉTODOS: Entre marzo y agosto de 1994 se realizó un estudio observacional transversal en mujeres indígenas que utilizaban combustible bioorgánico y cocinaban en el interior de sus viviendas en comunidades rurales de las zonas montañosas de Guatemala. Se estudió a 89 mujeres que empleaban fogones sin humo (grupo no expuesto y 185 mujeres de las mismas comunidades que empleaban fogones que generaban humo (grupo expuesto. Ninguna estaba embarazada. Se tomaron muestras de sangre venosa y se determinaron las concentraciones de hemoglobina y de ferritina. Mediante análisis de regresión lineal múltiple se investigó la relación entre la exposición (fogones sin humo o fogones con humo y la concentración de hemoglobina, y se hicieron ajustes por posibles factores de confusión. RESULTADOS: No se encontró que la exposición al factor estudiado (fogones sin humo o con humo tuviera algún efecto en la concentración de hemoglobina, ya fuera mediante an

  16. Lócus de controle em saúde e autoestima em portadores de diabetes mellitus tipo 2

    Directory of Open Access Journals (Sweden)

    Fernanda Silva Fuscaldi

    2011-08-01

    Full Text Available O presente estudo teve como objetivo relacionar os escores obtidos pela aplicação das escalas de lócus de controle da saúde e autoestima com variáveis sócio-demográficas, clínicas, fatores de risco e complicações crônicas em 65 portadores de diabetes mellitus do tipo 2. Trata-se de um estudo descritivo transversal onde foram utilizados, para a análise estatística, os testes de Qui-quadrado de Pearson, Mann-Whitney, Kruskal-Wallis e de Correlação de Spearman. Em relação ao lócus de controle, os pacientes apresentaram, em média, maiores escores na dimensão interna, sendo que as mulheres demonstraram maior externalidade-ao acaso para a saúde. Relações estatisticamente significativas foram encontradas entre internalidade com tempo de diagnóstico e atividade física; entre externalidade-outros poderosos com hemoglobina glicada e atividade física e entre externalidade-ao acaso com a prática de atividade física. A autoestima foi alta na maioria dos indivíduos, porém não se relacionou estatisticamente a nenhuma variável.

  17. Accurate genotyping across variant classes and lengths using variant graphs

    DEFF Research Database (Denmark)

    Sibbesen, Jonas Andreas; Maretty, Lasse; Jensen, Jacob Malte

    2018-01-01

    of read k-mers to a graph representation of the reference and variants to efficiently perform unbiased, probabilistic genotyping across the variation spectrum. We demonstrate that BayesTyper generally provides superior variant sensitivity and genotyping accuracy relative to existing methods when used...... collecting a set of candidate variants across discovery methods, individuals and databases, and then realigning the reads to the variants and reference simultaneously. However, this realignment problem has proved computationally difficult. Here, we present a new method (BayesTyper) that uses exact alignment...... to integrate variants across discovery approaches and individuals. Finally, we demonstrate that including a ‘variation-prior’ database containing already known variants significantly improves sensitivity....

  18. 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

  19. Variants of Moreau's sweeping process

    International Nuclear Information System (INIS)

    Siddiqi, A.H.; Manchanda, P.

    2001-07-01

    In this paper we prove the existence and uniqueness of two variants of Moreau's sweeping process -u'(t) is an element of Nc (t) (u(t)), where in one variant we replace u(t) by u'(t) in the right-hand side of the inclusion and in the second variant u'(t) and u(t) are respectively replaced by u''(t) and u'(t). (author)

  20. Hairy cell leukemia-variant

    International Nuclear Information System (INIS)

    Quadri, Mohammad I.; Al-Sheikh, Iman H.

    2001-01-01

    Hairy cell leukaemia variant is a very rare chronic lymphoproliferative disorder and is closely related to hairy cell leukemia. We hereby describe a case of hairy cell leukaemia variant for the first time in Saudi Arabia. An elderly Saudi man presented with pallor, massive splenomegaly, and moderate hepatomegaly. Hemoglobin was 7.7 g/dl, Platelets were 134 x109/l and white blood count was 140x10 9/l with 97% being abnormal lymphoid cells with cytoplasmic projections. The morphology, cytochemistry, and immunophenotype of the lymphoid cells were classical of hairy cell leukaemia variant. The bone marrow was easily aspirated and findings were consistent with hairy cell leukaemia variant. (author)

  1. 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...

  2. 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

  3. Risk-Association of <em>CYP11A1em> Polymorphisms and Breast Cancer Among Han Chinese Women in Southern China

    Directory of Open Access Journals (Sweden)

    Minying Sun

    2012-04-01

    Full Text Available Exposure to endogenous sex hormones has been reported as a risk factor for breast cancer. The <em>CYP11A1em> gene encodes the key enzyme that catalyzes the initial and rate-limiting step in steroid hormone synthesis. In this study, the associations between single nucleotide polymorphisms (SNPs in <em>CYP11A1em> and breast cancer susceptibility were examined. Six SNPs in <em>CYP11A1 em>were genotyped using the MassARRAY IPLEX platform in 530 breast cancer patients and 546 healthy controls. Association analyses based on a χ2 test and binary logistic regression were performed to determine the odds ratio (<em>OR> and 95% confidence interval (95% <em>CI> for each SNP. Two loci (rs2959008 and rs2279357 showed evidence of associations with breast cancer risk. The variant genotype C/T-C/C of rs2959008 was significantly associated with a decreased risk (age-adjusted<em> ORem>, 0.75; 95% <em>CI>, 0.58–0.96; <em>P em>= 0.023 compared with the wild-type TT. However, the homozygous TT variant of rs2279357 exhibited increased susceptibility to breast cancer (age-adjusted<em> ORem>, 1.44; 95% <em>CI>, 1.05–1.98; <em>P em>= 0.022. The locus rs2959003 also showed an appreciable effect, but no associations were observed for three other SNPs. Our results suggest that polymorphisms of <em>CYP11A1em> are related to breast cancer susceptibility in Han Chinese women of South China.

  4. 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.

  5. 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.

  6. 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.

  7. 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.

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

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    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.

  9. 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

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

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    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.

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

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    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

  12. 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

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    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

  13. Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations Study.

    Science.gov (United States)

    Murray, Anna; Bennett, Claire E; Perry, John R B; Weedon, Michael N; Jacobs, Patricia A; Morris, Danielle H; Orr, Nicholas; Schoemaker, Minouk J; Jones, Michael; Ashworth, Alan; Swerdlow, Anthony J

    2011-01-01

    Women become infertile approximately 10 years before menopause, and as more women delay childbirth into their 30s, the number of women who experience infertility is likely to increase. Tests that predict the timing of menopause would allow women to make informed reproductive decisions. Current predictors are only effective just prior to menopause, and there are no long-range indicators. Age at menopause and early menopause (EM) are highly heritable, suggesting a genetic aetiology. Recent genome-wide scans have identified four loci associated with variation in the age of normal menopause (40-60 years). We aimed to determine whether theses loci are also risk factors for EM. We tested the four menopause-associated genetic variants in a cohort of approximately 2000 women with menopause≤45 years from the Breakthrough Generations Study (BGS). All four variants significantly increased the odds of having EM. Comparing the 4.5% of individuals with the lowest number of risk alleles (two or three) with the 3.0% with the highest number (eight risk alleles), the odds ratio was 4.1 (95% CI 2.4-7.1, P=4.0×10(-7)). In combination, the four variants discriminated EM cases with a receiver operator characteristic area under the curve of 0.6. Four common genetic variants identified by genome-wide association studies, had a significant impact on the odds of having EM in an independent cohort from the BGS. The discriminative power is still limited, but as more variants are discovered they may be useful for predicting reproductive lifespan.

  14. Myostatin: genetic variants, therapy and gene doping

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    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

  15. 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

  16. Anemia em menores de seis anos: estudo de base populacional em Pelotas, RS Anemia in children under six: population-based study in Pelotas, Southern Brazil

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    Maria Cecília Formoso Assunção

    2007-06-01

    Full Text Available OBJETIVO: Analisar a prevalência de anemia em crianças menores de seis anos, em uma amostra probabilística de área urbana. MÉTODOS: Foi realizado estudo com crianças de zero a cinco anos de idade, na cidade de Pelotas, RS, em 2004. Foram coletadas informações sobre características demográficas, socioeconômicas, antropométricas, de morbidade e sobre alimentação, por meio de questionário aplicado às mães ou responsáveis. As crianças foram pesadas e medidas. A concentração de hemoglobina foi medida com hemoglobinômetro portátil, HemoCue e anemia foi definida como valores de hemoglobina OBJECTIVE: To assess the prevalence of anemia among children under six years of age in a probabilistic sample from an urban area. METHODS: A study was conducted comprising children aged zero to five years in the city of Pelotas, Southern Brazil, in 2004. Data were collected on demographic, socioeconomic, and anthropometric characteristics, morbidity and nutrition using a questionnaire applied to the mothers and guardians. Children's weight and height measurements were obtained. Hemoglobin concentration was measured using the HemoCue portable hemoglobinometer and anemia was defined as hemoglobin <11 g/dL. The association between anemia and predictors was expressed as prevalence ratio. Multivariate analysis was carried out using Poisson regression following a conceptual model and taking into account the study design effect. RESULTS: There were identified 534 children and total losses and refusals were 27 (5.1%. The prevalence of anemia was 30.2% (95% CI 23.5%;37.0%. In the multivariate analysis, only age and family income remained significantly associated with anemia. CONCLUSIONS: Anemia was largely socially determined in the population studied. Interventions aiming at reducing anemia should be developed to lessen this condition in the short run targeting disadvantaged populations.

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

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    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.

  18. GCPII Variants, Paralogs and Orthologs

    Czech Academy of Sciences Publication Activity Database

    Hlouchová, Klára; Navrátil, Václav; Tykvart, Jan; Šácha, Pavel; Konvalinka, Jan

    2012-01-01

    Roč. 19, č. 9 (2012), s. 1316-1322 ISSN 0929-8673 R&D Projects: GA ČR GAP304/12/0847 Institutional research plan: CEZ:AV0Z40550506 Keywords : PSMA * GCPIII * NAALADase L * splice variants * homologs * PSMAL Subject RIV: CE - Biochemistry Impact factor: 4.070, year: 2012

  19. Odontogenic keratocyst: a peripheral variant.

    Science.gov (United States)

    Vij, H; Vij, R; Gupta, V; Sengupta, S

    2011-01-01

    Odontogenic keratocyst, which is developmental in nature, is an intraosseous lesion though on rare occasions it may occur in an extraosseous location. The extraosseous variant is referred to as peripheral odontogenic keratocyst. Though, clinically, peripheral odontogenic keratocyst resembles the gingival cyst of adults, it has histologic features that are pathognomonic of odontogenic keratocyst. This article presents a case of this uncommon entity.

  20. 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 Pandemic Other Information on Swine Influenza/Variant Influenza Virus Language: English (US) Español Recommend ...

  1. Evaluation of <em>HER2em> Gene Amplification in Breast Cancer Using Nuclei Microarray <em>in em>S>itu em>Hybridization

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    Xuefeng Zhang

    2012-05-01

    Full Text Available Fluorescence<em> em>>in situ em>hybridization (FISH assay is considered the “gold standard” in evaluating <em>HER2/neu (HER2em> gene status. However, FISH detection is costly and time consuming. Thus, we established nuclei microarray with extracted intact nuclei from paraffin embedded breast cancer tissues for FISH detection. The nuclei microarray FISH (NMFISH technology serves as a useful platform for analyzing <em>HER2em> gene/chromosome 17 centromere ratio. We examined <em>HER2em> gene status in 152 cases of invasive ductal carcinomas of the breast that were resected surgically with FISH and NMFISH. <em>HER2em> gene amplification status was classified according to the guidelines of the American Society of Clinical Oncology and College of American Pathologists (ASCO/CAP. Comparison of the cut-off values for <em>HER2em>/chromosome 17 centromere copy number ratio obtained by NMFISH and FISH showed that there was almost perfect agreement between the two methods (κ coefficient 0.920. The results of the two methods were almost consistent for the evaluation of <em>HER2em> gene counts. The present study proved that NMFISH is comparable with FISH for evaluating <em>HER2em> gene status. The use of nuclei microarray technology is highly efficient, time and reagent conserving and inexpensive.

  2. A New Natural Lactone from <em>Dimocarpus> <em>longan> Lour. Seeds

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    Zhongjun Li

    2012-08-01

    Full Text Available A new natural product named longanlactone was isolated from <em>Dimocarpus> <em>longan> Lour. seeds. Its structure was determined as 3-(2-acetyl-1<em>H>-pyrrol-1-yl-5-(prop-2-yn-1-yldihydrofuran-2(3H-one by spectroscopic methods and HRESIMS.

  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. Prevalência e fatores associados à deficiência de ferro em lactentes atendidos em um centro de saúde-escola em Belém, Pará, Brasil Prevalence and factors associated with iron deficiency in infants treated at a primary care center in Belém, Pará, Brazil

    Directory of Open Access Journals (Sweden)

    Márcia Bitar Portella Neves

    2005-12-01

    Full Text Available Determinar a prevalência de deficiência de ferro e fatores associados em lactentes. Neste estudo transversal, foram estudados 365 lactentes atendidos em um centro de saúde-escola, em Belém, Pará, Brasil. Anemia ferropriva (hemoglobina 11g/dl e ferritina 11g/dl e ferritina > 12µg/l, em 18,1%. Em 12,5% dos lactentes, não incluídos na avaliação dos fatores associados com a deficiência de ferro, encontraram-se hemoglobina 12µg/l. Os resultados do modelo de regressão logística mostraram associação entre deficiência de ferro (ferritina The objective was to verify the occurrence of iron deficiency and associated factors in infants. This cross-sectional study included 365 infants (defined here as 6-24 months of age treated at a primary care center in Belém, Pará, Brazil. Iron-deficiency anemia (hemoglobin < 11g/dl and ferritin < 12µg/l was diagnosed in 55.1% of the sample, depletion of body iron reserves (hemoglobin < 11g/dl and ferritin < 12µg/l in 15.3%, and iron sufficiency (hemoglobin < 11g/dl and ferritin < 12µg/l in 18.1%. The results of the logistic regression model showed associations between iron deficiency (ferritin < 12µg/l and: 6-12 month age group, OR (odds ratio = 3.67 and 95% CI: 1.93-7.04; non-utilization of iron-fortified formula as the first milk used after interrupting breastfeeding, OR = 1.93 and 95%CI: 1.04-3.60; and per capita income ¾ 1 minimum wage, OR = 2.69 and 95%CI: 1.30-5.59. The occurrence of iron deficiency was high, showing the need to adopt effective measures to prevent this important public health problem.

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

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    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.

  6. Capacidad neurocognitiva en niños con drepanocitosis y su relación con el valor de la hemoglobina Neurocognitive ability in children with sickle cell disease and its relationship with the hemoglobin value

    Directory of Open Access Journals (Sweden)

    Raúl Martínez Triana

    2011-12-01

    Full Text Available Desde hace décadas se conoce que existe un déficit de la capacidad cognitiva en niños con drepanocitosis y se ha considerado a la anemia como una de las causas. Se obtuvieron mediciones neuropsicológicas con la escala de inteligencia de Wechsler en 119 pacientes entre 6 y 18 años, y se compararon con 42 niños sanos de la misma edad y sexo. En 87 de los casos se obtuvieron los promedios anuales de los valores de hemoglobina (Hb recogidos de las historias clínicas en las consultas de seguimiento, hasta el momento de la evaluación. Se observó una disminución en los cocientes de inteligencia de la escala total (ET, p= 0,024, de la escala ejecutiva (EE, p= 0,008 y también en las subescalas información (p= 0,004, ordenar figuras (p= 0,017 y diseño de bloques (p= 0,003, con respecto a los sanos. Se observaron diferencias entre los resultados de los pacientes con los genotipos considerados más severos (SS y Sb0 talasemia con los menos severos (SC y Sb+ talasemia, en la ET (p= 0,033 y la EE (p= 0,011. Se encontró una relación significativa entre los promedios anuales de Hb, de los 4 a los 6 años de edad con la ET (p= 0,023, la escala verbal (p= 0,028, las subescalas información (p= 0,010, comprensión (p= 0,024, vocabulario (p= 0,022 y diseño de bloques (p= 0,011. Estos resultados confirman el déficit cognitivo en los pacientes con drepanocitosis y lo relacionan con la severidad de la anemia en la edad preescolar.

  7. 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.

  8. 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

  9. Characterization of form variants of Xenorhabdus luminescens.

    Science.gov (United States)

    Gerritsen, L J; de Raay, G; Smits, P H

    1992-01-01

    From Xenorhabdus luminescens XE-87.3 four variants were isolated. One, which produced a red pigment and antibiotics, was luminescent, and could take up dye from culture media, was considered the primary form (XE-red). A pink-pigmented variant (XE-pink) differed from the primary form only in pigmentation and uptake of dye. Of the two other variants, one produced a yellow pigment and fewer antibiotics (XE-yellow), while the other did not produce a pigment or antibiotics (XE-white). Both were less luminescent, did not take up dye, and had small cell and colony sizes. These two variants were very unstable and shifted to the primary form after 3 to 5 days. It was not possible to separate the primary form and the white variant completely; subcultures of one colony always contained a few colonies of the other variant. The white variant was also found in several other X. luminescens strains. DNA fingerprints showed that all four variants are genetically identical and are therefore derivatives of the same parent. Protein patterns revealed a few differences among the four variants. None of the variants could be considered the secondary form. The pathogenicity of the variants decreased in the following order: XE-red, XE-pink, XE-yellow, and XE-white. The mechanism and function of this variability are discussed. Images PMID:1622273

  10. Synthesis, Crystal Structure and Luminescent Property of Cd (II Complex with <em>N-Benzenesulphonyl-L>-leucine

    Directory of Open Access Journals (Sweden)

    Xishi Tai

    2012-09-01

    Full Text Available A new trinuclear Cd (II complex [Cd3(L6(2,2-bipyridine3] [L =<em> Nem>-phenylsulfonyl-L>-leucinato] has been synthesized and characterized by elemental analysis, IR and X-ray single crystal diffraction analysis. The results show that the complex belongs to the orthorhombic, space group<em> Pem>212121 with<em> aem> = 16.877(3 Å, <em>b> em>= 22.875(5 Å, <em>c em>= 29.495(6 Å, <em>α> em>= <emem>= <emem>= 90°, <em>V> em>= 11387(4 Å3, <em>Z> em>= 4, <em>Dc>= 1.416 μg·m−3, <emem>= 0.737 mm−1, <em>F> em>(000 = 4992, and final <em>R>1 = 0.0390, <em>ωR>2 = 0.0989. The complex comprises two seven-coordinated Cd (II atoms, with a N2O5 distorted pengonal bipyramidal coordination environment and a six-coordinated Cd (II atom, with a N2O4 distorted octahedral coordination environment. The molecules form one dimensional chain structure by the interaction of bridged carboxylato groups, hydrogen bonds and p-p interaction of 2,2-bipyridine. The luminescent properties of the Cd (II complex and <em>N-Benzenesulphonyl-L>-leucine in solid and in CH3OH solution also have been investigated.

  11. Shift-Variant Multidimensional Systems.

    Science.gov (United States)

    1985-05-29

    x,y;u,v) is the system response at (x,y) to an unit impulse applied at (u,v). The presence of additive noise in the preceding input-output model of a...space model developed works very effi- ciently to deblur images affected by 2-D linear shift- varying blurs, its use, in presence of noise needs to be...causal linear shift-variant (LSV) system, whose impulse res- ponse is a K-th order degenerate sequence, a K-th order state-space model was obtained

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

    Directory of Open Access Journals (Sweden)

    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. Leucemia linfoblástica aguda em lactentes: 20 anos de experiência

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    Rejane B. Araújo

    1999-02-01

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  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

    Directory of Open Access Journals (Sweden)

    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. 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

  18. Developing consistent pronunciation models for phonemic variants

    CSIR Research Space (South Africa)

    Davel, M

    2006-09-01

    Full Text Available Pronunciation lexicons often contain pronunciation variants. This can create two problems: It can be difficult to define these variants in an internally consistent way and it can also be difficult to extract generalised grapheme-to-phoneme rule sets...

  19. 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.

  20. Semantic prioritization of novel causative genomic variants

    KAUST Repository

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

    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 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.

  1. Fundamental Characteristics of Industrial Variant Specification Systems

    DEFF Research Database (Denmark)

    Hansen, Benjamin Loer; Hvam, Lars

    2004-01-01

    fundamental concepts related to this task, which are relevant to understand for academia and practitioners working with the subject. This is done through a description of variant specification tasks and typical aspects of system solutions. To support the description of variant specification tasks and systems...

  2. Characterization of form variants of Xenorhabdus luminescens.

    NARCIS (Netherlands)

    Gerritsen, L.J.M.; Raay, de G.; Smits, P.H.

    1992-01-01

    From Xenorhabdus luminescens XE-87.3 four variants were isolated. One, which produced a red pigment and antibiotics, was luminescent, and could take up dye from culture media, was considered the primary form (XE-red). A pink-pigmented variant (XE-pink) differed from the primary form only in

  3. CLEVER: Clique-Enumerating Variant Finder

    NARCIS (Netherlands)

    Marschall, T.; Costa, I.; Canzar, S.; bauer, m; Klau, G.W.; Schliep, A.; Schönhuth, A.

    2012-01-01

    Motivation: Next-generation sequencing techniques have facilitated a large-scale analysis of human genetic variation. Despite the advances in sequencing speed, the computational discovery of structural variants is not yet standard. It is likely that many variants have remained undiscovered in most

  4. Problemas Emocionais e Percepção de Coerção em Pacientes com Diabetes Tipo 2: Um Estudo Observacional

    Directory of Open Access Journals (Sweden)

    Carolina Campos Gross

    2011-01-01

    Full Text Available Introdução: A participação ativa no tratamento, o cuidado psicológico e a comunicação efetiva entre paciente e equipe de saúde são fundamentais para ao tratamento efetivo do diabetes. Objetivo: Identificar os problemas enfrentados pelos pacientes com diabetes e avaliar o grau de coerção associado a estes aspectos. Método: Estudo transversal com 152 pacientes com diabetes tipo 2 foi conduzido utilizando duas escalas: Problem Areas in Diabetes Scale (PAID e Percepção de Coerção. A hemoglobina glicada foi avaliada com HPLC. Resultados: Mulheres apresentaram nível maior de problemas emocionais com relação ao diabetes (PAID ≥ a 40 do que os homens (X2=5,3; gl=1; P=0,021. Com relação à percepção de coerção, 94,4% (N=118 consideraram ter tido oportunidade suficiente de dizer para a equipe de saúde se queriam se tratar e 83,2% (N=104 o que queriam a respeito do tratamento. Enquanto 12,7% (N=16 referiram que ninguém parecia interessado em saber se ele/ela queria se tratar e 16% (N=20 consideram que a sua opinião sobre o tratamento não interessou à equipe de saúde. O nível de hemoglobina glicada apresentou moderada correlação com a percepção do paciente sobre a oportunidade que recebeu de dizer para a equipe de saúde se queria se tratar. Conclusão: Nesta amostra de pacientes com diabetes tipo 2, os problemas emocionais relacionados ao diabetes se mostram frequentes, principalmente nas mulheres. A percepção de coerção mostrou associação com PAID e com o nível de hemoglobina glicada.

  5. Variant Review with the Integrative Genomics Viewer.

    Science.gov (United States)

    Robinson, James T; Thorvaldsdóttir, Helga; Wenger, Aaron M; Zehir, Ahmet; Mesirov, Jill P

    2017-11-01

    Manual review of aligned reads for confirmation and interpretation of variant calls is an important step in many variant calling pipelines for next-generation sequencing (NGS) data. Visual inspection can greatly increase the confidence in calls, reduce the risk of false positives, and help characterize complex events. The Integrative Genomics Viewer (IGV) was one of the first tools to provide NGS data visualization, and it currently provides a rich set of tools for inspection, validation, and interpretation of NGS datasets, as well as other types of genomic data. Here, we present a short overview of IGV's variant review features for both single-nucleotide variants and structural variants, with examples from both cancer and germline datasets. IGV is freely available at https://www.igv.org Cancer Res; 77(21); e31-34. ©2017 AACR . ©2017 American Association for Cancer Research.

  6. 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.

  7. Congenital anomalies and normal skeletal variants

    International Nuclear Information System (INIS)

    Guebert, G.M.; Yochum, T.R.; Rowe, L.J.

    1987-01-01

    Congenital anomalies and normal skeletal variants are a common occurrence in clinical practice. In this chapter a large number of skeletal anomalies of the spine and pelvis are reviewed. Some of the more common skeletal anomalies of the extremities are also presented. The second section of this chapter deals with normal skeletal variants. Some of these variants may simulate certain disease processes. In some instances there are no clear-cut distinctions between skeletal variants and anomalies; therefore, there may be some overlap of material. The congenital anomalies are presented initially with accompanying text, photos, and references, beginning with the skull and proceeding caudally through the spine to then include the pelvis and extremities. The normal skeletal variants section is presented in an anatomical atlas format without text or references

  8. 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.

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

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    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

  10. 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.

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

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    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

  12. Dermatoses em pacientes com diabetes mellitus Skin lesions in diabetic patients

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    N T Foss

    2005-08-01

    Full Text Available OBJETIVO: Ainda é desconhecida a relação do diabetes com fatores determinantes ou precipitantes de lesões dermatológicas em pacientes diabéticos. Assim, o objetivo do estudo foi investigar a presença de lesões cutâneas, não referidas pelo paciente diabético e sua relação com o controle metabólico da doença. MÉTODOS: Foram examinados 403 pacientes, dos quais 31% eram diabéticos do tipo 1 e 69% do tipo 2. Em ambulatório de um hospital universitário, os pacientes foram atendidos por endocrinologista para a avaliação endócrino-metabólica e por dermatologista para a avaliação dermatológica. O grau de controle metabólico foi documentado em 136 pacientes por meio da dosagem de hemoglobina glicada. RESULTADOS: Houve predomínio de dermatofitoses (82,6%, seguido de grupo de dermatoses como acne e degeneração actínica (66,7%, piodermites (5%, tumores cutâneos (3% e necrobiose lipoídica (1%. Entre as dermatoses mais comuns em diabéticos, foram confirmados com exame histológico: dois diagnósticos de necrobiose (0,4%, cinco de dermopatia diabética (1,2% e três casos de mal perfurante plantar (0,7%. Os valores da hemoglobina glicada foram: 7,2% em pacientes com controle metabólico adequado nos dois tipos de diabetes e de 11,9% e 12,7% nos tipos 1 e 2, respectivamente, com controle inadequado. Nos pacientes com controle metabólico inadequado foi observada freqüência maior de dermatofitoses, em ambos os tipos de diabetes. CONCLUSÕES: Os dados revelaram freqüência elevada de lesão dermatológica nos pacientes diabéticos, especialmente dermatofitoses. Dessa forma, o descontrole metabólico do diabético propicia maior suscetibilidade a infecções cutâneas.OBJECTIVE: It is yet unknown the relationship between diabetes and determinants or triggering factors of skin lesions in diabetic patients. The purpose of the present study was to investigate the presence of unreported skin lesions in diabetic patients and their

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

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    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.

  14. Synthesis of spatially variant lattices.

    Science.gov (United States)

    Rumpf, Raymond C; Pazos, Javier

    2012-07-02

    It is often desired to functionally grade and/or spatially vary a periodic structure like a photonic crystal or metamaterial, yet no general method for doing this has been offered in the literature. A straightforward procedure is described here that allows many properties of the lattice to be spatially varied at the same time while producing a final lattice that is still smooth and continuous. Properties include unit cell orientation, lattice spacing, fill fraction, and more. This adds many degrees of freedom to a design such as spatially varying the orientation to exploit directional phenomena. The method is not a coordinate transformation technique so it can more easily produce complicated and arbitrary spatial variance. To demonstrate, the algorithm is used to synthesize a spatially variant self-collimating photonic crystal to flow a Gaussian beam around a 90° bend. The performance of the structure was confirmed through simulation and it showed virtually no scattering around the bend that would have arisen if the lattice had defects or discontinuities.

  15. Different Variants of Fundamental Portfolio

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    Tarczyński Waldemar

    2014-06-01

    Full Text Available The paper proposes the fundamental portfolio of securities. This portfolio is an alternative for the classic Markowitz model, which combines fundamental analysis with portfolio analysis. The method’s main idea is based on the use of the TMAI1 synthetic measure and, in limiting conditions, the use of risk and the portfolio’s rate of return in the objective function. Different variants of fundamental portfolio have been considered under an empirical study. The effectiveness of the proposed solutions has been related to the classic portfolio constructed with the help of the Markowitz model and the WIG20 market index’s rate of return. All portfolios were constructed with data on rates of return for 2005. Their effectiveness in 2006- 2013 was then evaluated. The studied period comprises the end of the bull market, the 2007-2009 crisis, the 2010 bull market and the 2011 crisis. This allows for the evaluation of the solutions’ flexibility in various extreme situations. For the construction of the fundamental portfolio’s objective function and the TMAI, the study made use of financial and economic data on selected indicators retrieved from Notoria Serwis for 2005.

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

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    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.

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

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    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.

  18. 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.

  19. Uso do adesivo butilcianoacrilato no controle da hemorragia após punções hepáticas em ratos

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    Armando de Capua Junior

    Full Text Available OBJETIVO: Avaliar o uso do adesivo butilcianoacrilato no controle da hemorragia em punções hepáticas de ratos. MÉTODO: Foram utilizados 40 ratos distribuídos em dois grupos, um deles heparinizado e o outro não, submetidos à punção hepática com jelco 14. Metade dos animais de cada grupo foi tratado com o adesivo butilcianoacrilato e a outra metade não recebeu nenhum tipo de tratamento. RESULTADOS: Os animais heparinizados e tratados com adesivo mantiveram os níveis de hematócrito e hemoglobina e uma mínima quantidade de sangue livre na cavidade. Já os animais heparinizados e sem tratamento apresentaram queda significativa dos níveis hematimétricos com moderada quantidade de sangue livre na cavidade (p < 0.005. CONCLUSÃO: O adesivo tecidual butilcianoacrilato mostrou ser eficiente como agente hemostático no controle de sangramento de punções hepáticas em ratos heparinizados.

  20. Momentos em freios e em embraiagens

    OpenAIRE

    Mimoso, Rui Miguel Pereira

    2011-01-01

    Dissertação para obtenção do Grau de Mestre em Mestrado Integrado em Engenharia Mecânica Nesta dissertação reúnem-se os modelos de cálculo utilizados na determinação dos momentos em freios e em embraiagens. Neste trabalho consideram-se os casos de freios e embraiagens de atrito seco e atrito viscoso. Nos freios de atrito viscoso são considerados casos em que as características dos fluidos não são induzidas, e outros em que são induzidas modificações a essas mesmas características. São a...

  1. Blood tranfusion in critically ill patients: state of the art Transfusão de sangue em pacientes críticos: estado da arte

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    Ludhmila Abrahão Hajjar

    2007-01-01

    Full Text Available Anemia is one of the most common abnormal findings in critically ill patients, and many of these patients will receive a blood transfusion during their intensive care unit stay. However, the determinants of exactly which patients do receive transfusions remains to be defined and have been the subject of considerable debate in recent years. Concerns and doubts have emerged regarding the benefits and safety of blood transfusion, in part due to the lack of evidence of better outcomes resulting from randomized studies and in part related to the observations that transfusion may increase the risk of infection. As a result of these concerns and of several studies suggesting better or similar outcomes with a lower transfusion trigger, there has been a general tendency to decrease the transfusion threshold from the classic 10 g/dL to lower values. In this review, we focus on some of the key studies providing insight into current transfusion practices and fueling the current debate on the ideal transfusion trigger.A transfusão no paciente crítico vem sendo alvo de discussões recentes considerando seus reais benefícios na redução de morbi-mortalidade e os riscos associados ao procedimento. Nos últimos anos, alguns estudos controlados e randomizados tiveram como objetivo comparar desfechos clínicos entre pacientes que receberam transfusão de maneira mais liberal (hemoglobina alvo em torno de 9 g/dL e transfusão de maneira mais restritiva (hemoglobina em torno de 7 g/dL. Os resultados demonstram a não superioridade da estratégia liberal comparada com a restritiva. Além disso, em alguns subgrupos de pacientes menos graves ou de menor idade, a transfusão foi associada com piores desfechos clínicos. Os riscos da transfusão de sangue no paciente crítico incluem desde incidência maior de infecções bacterianas, infecções virais, imunodepressão, reações hemolíticas e lesões teciduais inflamatórias, dentre outros. Algumas estratégias v

  2. 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.

  3. RAGE splicing variants in mammals.

    Science.gov (United States)

    Sterenczak, Katharina Anna; Nolte, Ingo; Murua Escobar, Hugo

    2013-01-01

    The receptor for advanced glycation end products (RAGE) is a multiligand receptor of environmental stressors which plays key roles in pathophysiological processes, including immune/inflammatory disorders, Alzheimer's disease, diabetic arteriosclerosis, tumorigenesis, and metastasis. Besides the full-length RAGE protein in humans nearly 20 natural occurring RAGE splicing variants were described on mRNA and protein level. These naturally occurring isoforms are characterized by either N-terminally or C-terminally truncations and are discussed as possible regulators of the full-length RAGE receptor either by competitive ligand binding or by displacing the full-length protein in the membrane. Accordingly, expression deregulations of the naturally occurring isoforms were supposed to have significant effect on RAGE-mediated disorders. Thereby the soluble C-truncated RAGE isoforms present in plasma and tissues are the mostly focused isoforms in research and clinics. Deregulations of the circulating levels of soluble RAGE forms were reported in several RAGE-associated pathological disorders including for example atherosclerosis, diabetes, renal failure, Alzheimer's disease, and several cancer types. Regarding other mammalian species, the canine RAGE gene showed high similarities to the corresponding human structures indicating RAGE to be evolutionary highly conserved between both species. Similar to humans the canine RAGE showed a complex and extensive splicing activity leading to a manifold pattern of RAGE isoforms. Due to the similarities seen in several canine and human diseases-including cancer-comparative structural and functional analyses allow the development of RAGE and ligand-specific therapeutic approaches beneficial for human and veterinary medicine.

  4. 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

  5. Isolation of a variant of Candida albicans.

    Science.gov (United States)

    Buckley, H R; Price, M R; Daneo-Moore, L

    1982-01-01

    During the course of Candida albicans antigen production, a variant of this organism was encountered which did not produce hyphae at 37 degrees C. Presented here are some of the characteristics of this variant. It produces hyphae at 25 degrees C on cornmeal agar and synthetic medium plus N-acetylglucosamine and Tween 80. At 37 degrees C, it does not produce hyphae on these media, although C. albicans normally does produce hyphae under these circumstances. In liquid synthetic medium, this variant does not produce hyphae at 37 degrees C. The variant strain was analyzed for DNA, RNA, protein content, and particle size. After 50 to 70 h in balanced exponential-phase growth, particle size distribution was narrow, and there were no differences in the DNA, RNA, or protein content per particle in the two strains. When balanced exponential-phase cultures were brought into stationary phase, both strains contained the same amount of DNA per cell. Images PMID:6752021

  6. Isolation of a variant of Candida albicans.

    Science.gov (United States)

    Buckley, H R; Price, M R; Daneo-Moore, L

    1982-09-01

    During the course of Candida albicans antigen production, a variant of this organism was encountered which did not produce hyphae at 37 degrees C. Presented here are some of the characteristics of this variant. It produces hyphae at 25 degrees C on cornmeal agar and synthetic medium plus N-acetylglucosamine and Tween 80. At 37 degrees C, it does not produce hyphae on these media, although C. albicans normally does produce hyphae under these circumstances. In liquid synthetic medium, this variant does not produce hyphae at 37 degrees C. The variant strain was analyzed for DNA, RNA, protein content, and particle size. After 50 to 70 h in balanced exponential-phase growth, particle size distribution was narrow, and there were no differences in the DNA, RNA, or protein content per particle in the two strains. When balanced exponential-phase cultures were brought into stationary phase, both strains contained the same amount of DNA per cell.

  7. Genetic variants of ghrelin in metabolic disorders.

    Science.gov (United States)

    Ukkola, Olavi

    2011-11-01

    An increasing understanding of the role of genes in the development of obesity may reveal genetic variants that, in combination with conventional risk factors, may help to predict an individual's risk for developing metabolic disorders. Accumulating evidence indicates that ghrelin plays a role in regulating food intake and energy homeostasis and it is a reasonable candidate gene for obesity-related co-morbidities. In cross-sectional studies low total ghrelin concentrations and some genetic polymorphisms of ghrelin have been associated with obesity-associated diseases. The present review highlights many of the important problems in association studies of genetic variants and complex diseases. It is known that population-specific differences in reported associations exist. We therefore conclude that more studies on variants of ghrelin gene are needed to perform in different populations to get deeper understanding on the relationship of ghrelin gene and its variants to obesity. Copyright © 2011 Elsevier Inc. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    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.

  9. TREM2 Variants in Alzheimer's Disease

    Science.gov (United States)

    Guerreiro, Rita; Wojtas, Aleksandra; Bras, Jose; Carrasquillo, Minerva; Rogaeva, Ekaterina; Majounie, Elisa; Cruchaga, Carlos; Sassi, Celeste; Kauwe, John S.K.; Younkin, Steven; Hazrati, Lilinaz; Collinge, John; Pocock, Jennifer; Lashley, Tammaryn; Williams, Julie; Lambert, Jean-Charles; Amouyel, Philippe; Goate, Alison; Rademakers, Rosa; Morgan, Kevin; Powell, John; St. George-Hyslop, Peter; Singleton, Andrew; Hardy, John

    2013-01-01

    BACKGROUND Homozygous loss-of-function mutations in TREM2, encoding the triggering receptor expressed on myeloid cells 2 protein, have previously been associated with an autosomal recessive form of early-onset dementia. METHODS We used genome, exome, and Sanger sequencing to analyze the genetic variability in TREM2 in a series of 1092 patients with Alzheimer's disease and 1107 controls (the discovery set). We then performed a meta-analysis on imputed data for the TREM2 variant rs75932628 (predicted to cause a R47H substitution) from three genomewide association studies of Alzheimer's disease and tested for the association of the variant with disease. We genotyped the R47H variant in an additional 1887 cases and 4061 controls. We then assayed the expression of TREM2 across different regions of the human brain and identified genes that are differentially expressed in a mouse model of Alzheimer's disease and in control mice. RESULTS We found significantly more variants in exon 2 of TREM2 in patients with Alzheimer's disease than in controls in the discovery set (P = 0.02). There were 22 variant alleles in 1092 patients with Alzheimer's disease and 5 variant alleles in 1107 controls (P<0.001). The most commonly associated variant, rs75932628 (encoding R47H), showed highly significant association with Alzheimer's disease (P<0.001). Meta-analysis of rs75932628 genotypes imputed from genomewide association studies confirmed this association (P = 0.002), as did direct genotyping of an additional series of 1887 patients with Alzheimer's disease and 4061 controls (P<0.001). Trem2 expression differed between control mice and a mouse model of Alzheimer's disease. CONCLUSIONS Heterozygous rare variants in TREM2 are associated with a significant increase in the risk of Alzheimer's disease. (Funded by Alzheimer's Research UK and others.) PMID:23150934

  10. Anemia e marcadores séricos da deficiência de ferro em grávidas atendidas na rede pública municipal de Manaus, Amazonas, Brasil Anemia and serum markers of iron deficiency in pregnant women attended by Public Health Service in Manaus, Amazonas, Brazil

    Directory of Open Access Journals (Sweden)

    Carolina Marinho da Costa

    2009-01-01

    Full Text Available O presente estudo teve como objetivo avaliar a anemia em grávidas, associando os resultados da dosagem de hemoglobina e hematócrito com a análise de marcadores do perfil sérico do ferro. Participaram do estudo 92 grávidas que estavam realizando pré-natal em unidades de atendimento à saúde no Município de Manaus, Amazonas, Brasil. Foi aplicado um formulário para obtenção dos dados antropométricos e informações sobre estilo de vida, além de serem realizadas dosagens dos níveis séricos de ferro, capacidade latente de ligação do ferro (CLLF, capacidade total de ligação do ferro (CTLF, índice de saturação da transferrina (IST, transferrina, ferritina e níveis sanguíneos de hemoglobina e hematócrito por metodologia automatizada utilizando kits comerciais disponíveis. Foram encontradas 26,1% de grávidas com níveis de hemoglobina abaixo de 11 g/dL. Observou-se que 17,4% das grávidas com níveis normais de hemoglobina apresentavam níveis inadequados de ferro sérico e 9,8% apresentavam níveis baixos de ferritina sérica. Os níveis de ferritina e de hemoglobina apresentaram diferença significativa entre os trimestres de gestação (p This study aimed to evaluate anemia in pregnant women, comparing results of hemoglobin and hemotocrit dosages with analysis of iron serum status markers. 92 pregnant women, in pre-natal attendance in Public Health Service of Manaus, Amazonas, Brazil, participated in this study. A questionnaire was used to access anthropometric data and life style information. Serum levels of iron, latent iron binding capacity (LIBC, total iron binding capacity (TIBC, transferrin saturation (TS, transferrin, ferritin, and blood levels of hemoglobin and hematocrit were measured by automated methods, using commercially available kits. The study showed that 26.1% of the pregnant women had hemoglobin levels below 11 g/dL. Also, of the pregnant women with normal levels of hemoglobin, 17.4% showed inadequate iron

  11. 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.

  12. 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.

  13. Dermatoses em renais cronicos em terapia dialitica

    Directory of Open Access Journals (Sweden)

    Luis Alberto Batista Peres

    2014-03-01

    Full Text Available Objetivo: As desordens cutâneas e das mucosas são comuns em pacientes em hemodiálise a longo prazo. A diálise prolonga a expectativa de vida, dando tempo para a manifestação destas anormalidades. Os objetivos deste estudo foram avaliar a prevalência de problemas dermatológicos em pacientes com doença renal crônica (DRC em hemodiálise. Métodos: Cento e quarenta e cinco pacientes com doença renal crônica em hemodiálise foram estudados. Todos os pacientes foram completamente analisados para as alterações cutâneas, de cabelos, mucosas e unhas por um único examinador e foram coletados dados de exames laboratoriais. Os dados foram armazenados em um banco de dados do Microsolft Excel e analisados por estatística descritiva. As variáveis contínuas foram comparadas pelo teste t de Student e as variáveis categóricas utilizando o teste do qui-quadrado ou o teste Exato de Fischer, conforme adequado. Resultados: O estudo incluiu 145 pacientes, com idade média de 53,6 ± 14,7 anos, predominantemente do sexo masculino (64,1% e caucasianos (90,0%. O tempo médio de diálise foi de 43,3 ± 42,3 meses. As principais doenças subjacentes foram: hipertensão arterial em 33,8%, diabetes mellitus em 29,6% e glomerulonefrite crônica em 13,1%. As principais manifestações dermatológicas observadas foram: xerose em 109 (75,2%, equimose em 87 (60,0%, prurido em 78 (53,8% e lentigo em 33 (22,8% pacientes. Conclusão: O nosso estudo mostrou a presença de mais do que uma dermatose por paciente. As alterações cutâneas são frequentes em pacientes em diálise. Mais estudos são necessários para melhor caracterização e manejo destas dermatoses.

  14. 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

  15. Beta-glucosidase variants and polynucleotides encoding same

    Science.gov (United States)

    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.

  16. 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.

  17. 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

    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......Pathogenic germline mutations in the BRCA1 gene predispose carriers to early onset breast and ovarian cancer. Clinical genetic screening of BRCA1 often reveals variants with uncertain clinical significance, complicating patient and family management. Therefore, functional examinations are urgently...... 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...

  18. 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.

  19. 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.

  20. 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

  1. 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.

  2. Genetics in psychiatry: common variant association studies

    Directory of Open Access Journals (Sweden)

    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.

  3. 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

  4. [Clinico-pathogenetic variants of chronic gastritis].

    Science.gov (United States)

    Chernin, V V; Dzhulaĭ, G S

    2004-01-01

    To evaluate specific features of the course of chronic gastritis (CG), morphofunctional condition of gastric mucosa, vegetative regulation, adrenergic and cholinergic shifts, histamine metabolism and effects of exogenic and endogenic risk factors in CG patients; to study clinicopathogenetic variants of CG. A total of 311 CG patients aged from 16 to 72 years were studied. They were divided into three groups by their gastric mucosa condition. The control group consisted of 30 healthy donors. The following parameters were studied: visual and histological condition of gastric mucosa, total acidity, the levels of free hydrochloric acid, pepsin, bioelectric gastric activity, general autonomic tonicity, cholinesterase activity. Three clinicopathogenetic variants of the disease have been identified. Variant 1 was characterized by a recurrent course, subjective manifestation of the disease only in exacerbation, surface (primarily antral) mucosal affection, normal or enhanced secretory and motor functions of the stomach, adequate reaction of acid production to caffeine and histamine stimulation, parasympathicotonia, absolute hyperhistaminemia, relative hypoacetylcholinemia, subnormal urinary excretion of adrenalin. Variant 2 manifested with rare recurrences, longer and more severe exacerbations, frequent spontaneous and provoked aggravations, moderate focal atrophy of the mucosa, secretory insufficiency with adequate reaction to histamine and minor to caffeine stimuli, hypomotor gastric dyskinesia, vegetative eutonia, normohistaminemia, absolute hypoacetylcholinemia, subnormal urinary excretion of noradrenaline. Variant 3 runs without definite remissions and exacerbations, with continuous abdominal pain and dyspepsia, frequent spontaneous aggravations, marked extended mucosal atrophy with secretory insufficiency up to achlorhydria, no stimulation of acid production in response to caffeine and histamine, gastric hypomotility, sympathicotonia, absolute hypohistaminemia

  5. Microsatellite Loci in the Gypsophyte <em>Lepidium subulatum em>(Brassicaceae, and Transferability to Other <em>Lepidieae>

    Directory of Open Access Journals (Sweden)

    José Gabriel Segarra-Moragues

    2012-09-01

    Full Text Available Polymorphic microsatellite markers were developed for the Ibero-North African, strict gypsophyte <em>Lepidium subulatumem> to unravel the effects of habitat fragmentation in levels of genetic diversity, genetic structure and gene flow among its populations. Using 454 pyrosequencing 12 microsatellite loci including di- and tri-nucleotide repeats were characterized in <em>L. subulatumem>. They amplified a total of 80 alleles (2–12 alleles per locus in a sample of 35 individuals of <em>L. subulatumem>, showing relatively high levels of genetic diversity, <em>H>O = 0.645, <em>H>E = 0.627. Cross-species transferability of all 12 loci was successful for the Iberian endemics <em>Lepidium cardaminesem>, <em>Lepidium stylatumem>, and the widespread, <em>Lepidium graminifoliumem> and one species each of two related genera, <em>Cardaria drabaem> and <em>Coronopus didymusem>. These microsatellite primers will be useful to investigate genetic diversity, population structure and to address conservation genetics in species of <em>Lepidium>.

  6. Biometria corporal e parâmetros hematológicos de Trachemys scripta elegans e Trachemys dorbignyi (Testudines: Emydidae criadas em cativeiro em Petrolina, Pernambuco

    Directory of Open Access Journals (Sweden)

    Adriana Gradela

    Full Text Available RESUMO: Este estudo objetivou avaliar a biometria corporal e o perfil hematológico de Trachemys scripta elegans (N=28 e de Trachemys dorbignyi (N=22 criadas em cativeiro na região do submédio do Vale do São Francisco, semiárido nordestino brasileiro, visando estabelecer valores sanguíneos básicos de saúde e gerar dados úteis na fisiologia comparativa de Testudines. Após 120 dias de adaptação e jejum de 24 horas, 2,5 mL de sangue foram coletados do seio occipital dorsal e depositados em tubo com heparina sódica para a avaliação, na sequência, dos níveis hematologicos. A contagem total de eritrócitos (CTE e global de leucócitos (CGL foi realizada em câmara de Neubauer; a dosagem de hemoglobina (HGB pelo método da método da cianometahemoglobina e o hematócrito (HCT através da técnica do microhematócrito. A partir da CTE estabeleceram-se matematicamente os índices hematimétricos. A biometria corporal também foi avaliada: a massa corporal (MC, g; b dimensões máximas da carapaça [comprimento (CMC, cm e largura (LMC, cm];c dimensões máximas do plastrão [comprimento (CMP, cm e largura (LMP, cm]; d comprimento total da cauda (CTC, cm; e comprimento linear da base da cauda ao orifício cloacal (CprC, cm; f comprimento linear do orifício cloacal a extremidade da cauda(CpoC, cm. T. scripta elegans apresentaram valores maiores (P 0,05 entre as espécies. Os resultados demostram que a maior parte da variação observada entre T. scripta elegans e T. dorbignyi é explicada pelas variáveis biométricas e que algumas correlações hematológicas caracterizam diferenças interespecíficas. Conclui-se que os resultados lançam luz sobre valores de referência para estas espécies mantidas em cativeiro na região do semiárido e servem como um modelo para a fisiologia comparativa intra e interespécies.

  7. Normal variants of skin in neonates

    Directory of Open Access Journals (Sweden)

    Kulkarni M

    1996-01-01

    Full Text Available 2221 consecutive live births taking place between March 1994 and February 1995 were evaluated for a minimum period of 5 days to note for the occurrence of various normal anatomical variants specially those of skin. Birth weight, gestational age, maternal age, socio-economic status and consanguinity were carefully recorded in all the cases. Mongolian spots (72%, Epstein pearls (43.8%, Milia (26.2% and Erythema toxicum (25.2%, were the common dermatological variants noted. Maturity of the babies and possibly genetic factors (consanguinity are important factors in their causation as ordered in our study.

  8. The curation of genetic variants: difficulties and possible solutions.

    Science.gov (United States)

    Pandey, Kapil Raj; Maden, Narendra; Poudel, Barsha; Pradhananga, Sailendra; Sharma, Amit Kumar

    2012-12-01

    The curation of genetic variants from biomedical articles is required for various clinical and research purposes. Nowadays, establishment of variant databases that include overall information about variants is becoming quite popular. These databases have immense utility, serving as a user-friendly information storehouse of variants for information seekers. While manual curation is the gold standard method for curation of variants, it can turn out to be time-consuming on a large scale thus necessitating the need for automation. Curation of variants described in biomedical literature may not be straightforward mainly due to various nomenclature and expression issues. Though current trends in paper writing on variants is inclined to the standard nomenclature such that variants can easily be retrieved, we have a massive store of variants in the literature that are present as non-standard names and the online search engines that are predominantly used may not be capable of finding them. For effective curation of variants, knowledge about the overall process of curation, nature and types of difficulties in curation, and ways to tackle the difficulties during the task are crucial. Only by effective curation, can variants be correctly interpreted. This paper presents the process and difficulties of curation of genetic variants with possible solutions and suggestions from our work experience in the field including literature support. The paper also highlights aspects of interpretation of genetic variants and the importance of writing papers on variants following standard and retrievable methods. Copyright © 2012. Published by Elsevier Ltd.

  9. Variáveis maternas e infantis associadas à ocorrência de anemia em crianças nos serviços de atenção básica em São Paulo Mother and child factors related to occurrence of anemia in children assisted at primary health care centers of São Paulo city, Brazil

    Directory of Open Access Journals (Sweden)

    Patrícia Colombo Compri

    2007-12-01

    Full Text Available OBJETIVO: Analisar variáveis maternas e infantis associadas à ocorrência de anemia em crianças atendidas por serviços de atenção básica à saúde do município de São Paulo. MÉTODOS: Participaram do estudo 357 crianças, de quatro a 24 meses, de três serviços de atenção básica à saúde da região sul da cidade. As variáveis foram separadas em categorias relacionadas à mãe e à criança. A dosagem de hemoglobina foi realizada por punção digital, com ponto de corte de 11g/dL para o diagnóstico de anemia. O teste t de Student foi aplicado para comparar as médias de hemoglobina de dois grupos independentes; a ANOVA, para três ou mais grupos; e o teste de Mann-Whitney para comparar a velocidade de crescimento e o grupo etário. RESULTADOS: A prevalência de hemoglobina abaixo de 11g/dL foi de 60%. Entre as variáveis maternas, não se constatou associação com a ocorrência de anemia. Houve associação entre anemia, gênero da criança e velocidade de ganho de peso. Quanto à alimentação, não foi encontrada associação entre tempo de aleitamento materno e anemia, mas houve associação com a ingestão quantitativa e qualitativamente pobre em ferro. CONCLUSÕES: A alta prevalência de anemia relacionou-se ao gênero masculino, no qual a velocidade de crescimento em menores de seis meses e naqueles com 18 a 24 meses foi maior, além de se associar à baixa ingestão de ferro na dieta.OBJECTIVE: To analyze mother and child factors associated with the occurrence of anemia in children assisted at primary health care centers in São Paulo city, Brazil. METHODS: The study enrolled 357 children from four to 24 months assisted at three health care centers in the southern region of the city. Possible factors associated to anemia and related to mother and children characteristics were categorized. Hemoglobin was determined by digital puncture and the cut value for anemia diagnosis was 11g/dL. Student t test was used to compare the

  10. Ocorrência simultânea de síndrome de Evans e anemia falciforme em uma criança de 2 anos Simultaneous occurrence of Evans syndrome and sickle cell anemia in a 2 year-old child

    Directory of Open Access Journals (Sweden)

    Adriana Alexandre Brito

    2012-04-01

    Full Text Available 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 diagnóstico para SE. Iniciou-se pulsoterapia com corticoide até regularização da plaquetometria. Hemácias em foice foram visualizadas no esfregaço sanguíneo; eletroforese de hemoglobina revelou fenótipo SS. A associação parece ter sido fortuita e gerou quadro grave, que deve ser reconhecido prontamente.The association of sickle cell anemia (SCA and Evans syndrome (ES seems to be uncommon. This study aimed to report a case of a child with SCA and SE. 2 year-old R. M. S. S. was admitted into a hematologic center with mucosal bleedings. Exam results revealed leucocyte 20.3 × 10(9/l, hemoglobin 4.6 g/dl, and platelets 28 × 10(9/l. Subsequently, myelogram was performed and showed erythroid-hypercellularity, which suggested hemolysis. Positive antiglobulin test corroborated the diagnosis of ES. Corticosteroid pulse therapies were conducted until normalization of platelet count. Sickle cells were detected in blood smears and hemoglobin electrophoresis revealed SS phenotype. Despite the fact the association appears to occur randomly, it causes severe clinical symptoms, which must be promptly recognized.

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

    Directory of Open Access Journals (Sweden)

    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.

  12. 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.

  13. Magnetic resonance angiography: infrequent anatomic variants

    International Nuclear Information System (INIS)

    Trejo, Mariano; Meli, Francisco; Lambre, Hector; Blessing, Ricardo; Gigy Traynor, Ignacio; Miguez, Victor

    2002-01-01

    We studied through RM angiography (3D TOF) with high magnetic field equipment (1.5 T) different infrequent intracerebral vascular anatomic variants. For their detection we emphasise the value of post-processed images obtained after conventional angiographic sequences. These post-processed images should be included in routine protocols for evaluation of the intracerebral vascular structures. (author)

  14. 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 left...

  15. Analysis of the energy development variants

    International Nuclear Information System (INIS)

    Tsvetanov, P.

    1990-01-01

    Analysis of the variants of energy development is made as the third stage of a procedure of energy-economy interrelations dynamics study, the other two stages being the scenarios description and the formulation of the variants. This stage includes a research on the dimensions and the dynamics of the resources demands, the general features and the trends of the national energy development. There is a presentation of a comparative analysis of the variants in terms of economic indices and energy values, computed by the model IMPACT-B. A resource evaluation of the development variants is given in terms of investments, requirements (direct, indirect and total) and limited national resources demands of the energy system. The trends of the national energy development discussed are: trends characterizing the changes in the structure of the energy consumption, resulting from changes in the economy; trends of the energy system impact on the productivity of labor; general trends of the proportionality in the industrial, the household and services sector development. 16 refs., 16 figs., 4 tabs. (R.Ts.)

  16. 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.

  17. 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...

  18. Glucose 6-phosphate dehydrogenase variants in Japan.

    Science.gov (United States)

    Miwa, S

    1980-01-01

    Fifty-four cases of glucose 6-phosphate dehydrogenase (G6PD) deficiency have so far been reported in Japan. Among them, 21 G6PD variants have been characterized. Nineteen out of the 21 variants were characterized in our laboratory and G6PD Heian and "Kyoto" by others. G6PD Tokyo, Tokushima, Ogikubo, Kurume, Fukushima, Yokohama, Yamaguchi, Wakayama, Akita, Heian and "Kyoto" were classified as Class 1, because all these cases showed chronic hemolytic anemia and severe enzyme deficiency. All these variants showed thermal instability. G6PD Mediterranean-like, Ogori, Gifu and Fukuoka were classified as Class 2, whereas G6PD Hofu, B(-) Chinese, Ube, Konan, Kamiube and Kiwa belonged to Class 3. All the 6 Class 3 variants were found as the results of the screening tests. The incidence of the deficiency in Japanese seems to be 0.1-0.5% but that of the cases which may slow drug-induced hemolysis would be much less. G6PD Ube and Konan appear to be relatively common in Japan.

  19. Genetic variants influencing phenotypic variance heterogeneity.

    Science.gov (United States)

    Ek, Weronica E; Rask-Andersen, Mathias; Karlsson, Torgny; Enroth, Stefan; Gyllensten, Ulf; Johansson, Åsa

    2018-03-01

    Most genetic studies identify genetic variants associated with disease risk or with the mean value of a quantitative trait. More rarely, genetic variants associated with variance heterogeneity are considered. In this study, we have identified such variance single-nucleotide polymorphisms (vSNPs) and examined if these represent biological gene × gene or gene × environment interactions or statistical artifacts caused by multiple linked genetic variants influencing the same phenotype. We have performed a genome-wide study, to identify vSNPs associated with variance heterogeneity in DNA methylation levels. Genotype data from over 10 million single-nucleotide polymorphisms (SNPs), and DNA methylation levels at over 430 000 CpG sites, were analyzed in 729 individuals. We identified vSNPs for 7195 CpG sites (P mean DNA methylation levels. We further showed that variance heterogeneity between genotypes mainly represents additional, often rare, SNPs in linkage disequilibrium (LD) with the respective vSNP and for some vSNPs, multiple low frequency variants co-segregating with one of the vSNP alleles. Therefore, our results suggest that variance heterogeneity of DNA methylation mainly represents phenotypic effects by multiple SNPs, rather than biological interactions. Such effects may also be important for interpreting variance heterogeneity of more complex clinical phenotypes.

  20. Genetic variants associated with lung function

    DEFF Research Database (Denmark)

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

    2014-01-01

    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...

  1. 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

  2. Marketing em moda

    OpenAIRE

    Leães, Sabrina Durgante

    2008-01-01

    Dissertação de mestrado em Design e Marketing O actual estado do Marketing em Moda é uma das questões ainda complexa com que se debate a sociedade global. As questões do Marketing em Moda percorrem alguns aspectos fundamentais tais como as constantes mutações do meio envolvente, a forma de como é percebida e comunicada a identidade das marcas de moda, em busca da melhor forma de segmentar o mercado e definir o seu posicionamento, bem como a reacção ao produto de moda do consumidor final. ...

  3. Comparing BMD-derived genotoxic potency estimations across variants of the transgenic rodent gene mutation assay.

    Science.gov (United States)

    Wills, John W; Johnson, George E; Battaion, Hannah L; Slob, Wout; White, Paul A

    2017-12-01

    There is growing interest in quantitative analysis of in vivo genetic toxicity dose-response data, and use of point-of-departure (PoD) metrics such as the benchmark dose (BMD) for human health risk assessment (HHRA). Currently, multiple transgenic rodent (TGR) assay variants, employing different rodent strains and reporter transgenes, are used for the assessment of chemically-induced genotoxic effects in vivo. However, regulatory issues arise when different PoD values (e.g., lower BMD confidence intervals or BMDLs) are obtained for the same compound across different TGR assay variants. This study therefore employed the BMD approach to examine the ability of different TGR variants to yield comparable genotoxic potency estimates. Review of over 2000 dose-response datasets identified suitably-matched dose-response data for three compounds (ethyl methanesulfonate or EMS, N-ethyl-N-nitrosourea or ENU, and dimethylnitrosamine or DMN) across four commonly-used murine TGR variants (Muta™Mouse lacZ, Muta™Mouse cII, gpt delta and BigBlue® lacI). Dose-response analyses provided no conclusive evidence that TGR variant choice significantly influences the derived genotoxic potency estimate. This conclusion was reliant upon taking into account the importance of comparing BMD confidence intervals as opposed to directly comparing PoD values (e.g., comparing BMDLs). Comparisons with earlier works suggested that with respect to potency determination, tissue choice is potentially more important than choice of TGR assay variant. Scoring multiple tissues selected on the basis of supporting toxicokinetic information is therefore recommended. Finally, we used typical within-group variances to estimate preliminary endpoint-specific benchmark response (BMR) values across several TGR variants/tissues. We discuss why such values are required for routine use of genetic toxicity PoDs for HHRA. Environ. Mol. Mutagen. 58:632-643, 2017. © 2017 Her Majesty the Queen in Right of Canada

  4. Influenza A (H3N2) Variant Virus

    Science.gov (United States)

    ... Swine Variant Pandemic Other Influenza A (H3N2) Variant Virus Language: English (US) Español Recommend on Facebook Tweet Share Compartir Influenza viruses that normally circulate in pigs are called “variant” ...

  5. Treatment of spelling variants in Setswana monolingual dictionaries

    African Journals Online (AJOL)

    user

    . ..... Table 8: Variants of Names of persons and places. Setswana variants. English. Aforika, Aferika. Africa. Baebele, Babele, Beibele. Bible. Ennyelane, Engelane ..... MWEs. As in variation amongst individual words, the MWEs such as idioms.

  6. Combined analyses of 20 common obesity susceptibility variants

    DEFF Research Database (Denmark)

    Sandholt, Camilla Helene; Sparsø, Thomas; Grarup, Niels

    2010-01-01

    Genome-wide association studies and linkage studies have identified 20 validated genetic variants associated with obesity and/or related phenotypes. The variants are common, and they individually exhibit small-to-modest effect sizes.......Genome-wide association studies and linkage studies have identified 20 validated genetic variants associated with obesity and/or related phenotypes. The variants are common, and they individually exhibit small-to-modest effect sizes....

  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. 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.

  9. Development of industrial variant specification systems

    DEFF Research Database (Denmark)

    Hansen, Benjamin Loer

    be developed from a holistic and strategically anchored point of view. Another assumption is that this is a challenge for many industrial companies. Even though the literature presents many considerations on general issues covering new information technology, little work is found on the business perspectives...... are discussed. A list of structural variables and solution components has been created. These are related to four design aspects in the holistic system design covering the aspects of process design, selection of resources (such as hardware, software and humans), the design of information structures...... solution elements and structural variables to be used in the design of variant specification systems. The thesis presents a “top-down” procedure to be used to develop variant specification systems from a strategically anchored and holistic point of view. A methodology and related task variables...

  10. The Saccharomyces Genome Database Variant Viewer.

    Science.gov (United States)

    Sheppard, Travis K; Hitz, Benjamin C; Engel, Stacia R; Song, Giltae; Balakrishnan, Rama; Binkley, Gail; Costanzo, Maria C; Dalusag, Kyla S; Demeter, Janos; Hellerstedt, Sage T; Karra, Kalpana; Nash, Robert S; Paskov, Kelley M; Skrzypek, Marek S; Weng, Shuai; Wong, Edith D; Cherry, J Michael

    2016-01-04

    The Saccharomyces Genome Database (SGD; http://www.yeastgenome.org) is the authoritative community resource for the Saccharomyces cerevisiae reference genome sequence and its annotation. In recent years, we have moved toward increased representation of sequence variation and allelic differences within S. cerevisiae. The publication of numerous additional genomes has motivated the creation of new tools for their annotation and analysis. Here we present the Variant Viewer: a dynamic open-source web application for the visualization of genomic and proteomic differences. Multiple sequence alignments have been constructed across high quality genome sequences from 11 different S. cerevisiae strains and stored in the SGD. The alignments and summaries are encoded in JSON and used to create a two-tiered dynamic view of the budding yeast pan-genome, available at http://www.yeastgenome.org/variant-viewer. © The Author(s) 2015. Published by Oxford University Press on behalf of Nucleic Acids Research.

  11. Angiography of histopathologic variants of synovial sarcoma

    International Nuclear Information System (INIS)

    Lois, J.F.; Fischer, H.J.; Mirra, J.M.; Gomes, A.S.; California Univ., Los Angeles

    1986-01-01

    Synovial sarcomas are rare soft tissue tumors which histopathologically can be divided into monophasic, biphasic and mixed variants. As part of a protocol for intra-arterial chemotherapy 12 patients with biopsy proven synovial sarcoma underwent angiography. The angiograms on these patients were reviewed to determine whether synovial sarcomas and their variants demonstrated a characteristic angiographic appearance. Synovial sarcomas appeared angiographically as soft tissue masses which showed a fine network of tumor vessels with an inhomogeneous capillary blush. Their degree of vascularity varied according to their histopathology. Monophasic synovial sarcomas demonstrated in general a higher degree of neovascularity than the biphasic form. This finding was also suggested by histopathologic analysis of the vessels in the tumor. Although angiography did not show a distinctive vascular pattern it may be useful to evaluate tumor size and vascularity. (orig.)

  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. Glucose oxidase variants with improved properities

    OpenAIRE

    Fischer, Rainer; Ostafe, Raluca; Prodanovic, Radivoje

    2014-01-01

    Source: WO14173822A3 [EN] The technology provided herein relates to novel variants of microbial glucose oxidase with improved properties, more specifically to polypeptides having glucose oxidase activity as their major enzymatic activity; to nucleic acid molecules encoding said glucose oxidases; vectors and host cells containing the nucleic acids and methods for producing the glucose oxidase; compositions comprising said glucose oxidase; methods for the preparation and production of such enzy...

  14. 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?

  15. Critical electrolyte concentration of spermatozoal chromatin containing histone H1 variants

    Directory of Open Access Journals (Sweden)

    J.R.P. Falco

    1999-06-01

    Full Text Available The critical electrolyte concentrations (CEC of sperm chromatin from animal species known or suspected to contain histone H1 variants were compared by examining the affinity of their DNA-protein complexes for toluidine blue in the presence of Mg2+. Bullfrog, sea urchin, bee and bumblebee spermatozoa were studied. The CEC for Rana catesbeiana and two sea urchin species were similar to that of histone H5-containing chromatin from chicken erythrocytes, thus confirming the biochemical and structural similarities of these DNA-protein complexes. The CEC for bees and the bumblebee, Bombus atratus, showed no particular phylogenetic relationship. We concluded that the CEC of histone H1-containing sperm cell chromatin is a useful indicator of variability in DNA-protein complexes but is of little phylogenetic value.Valores de concentração crítica de eletrólitos (CEC da cromatina de espermatozóides de espécies conhecidas ou suspeitas de apresentarem variantes da histona H1 foram comparados entre si. O objetivo foi estabelecer semelhanças ou diferenças nos complexos DNA-proteína de espermatozóides dessas espécies em nível citoquímico. A afinidade por moléculas de azul de toluidina em condições de competição com íons Mg2+ foi investigada nos espermatozóides do sapo boi e de ouriços do mar, abelhas e mamangava. Uma íntima relação entre os valores de CEC de Rana catesbeiana e de duas espécies de ouriço do mar com os da cromatina de eritrócitos de frango, que contém a histona H5, foi vista estar de acordo com certas semelhanças bioquímicas e estruturais entre seus complexos DNA-proteína. Quanto aos dados para abelhas e para a mamangava Bombus atratus, não se pôde associar a variabilidade em valores de CEC com a posição das espécies na respectiva árvore filogenética. Conclui-se, portanto, que a CEC de cromatina de espermatozóides que contêm histona H1 é um indicador útil da influência de variantes de H1 na organiza

  16. <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

  17. Random Plant Viral Variants Attain Temporal Advantages During Systemic Infections and in Turn Resist other Variants of the Same Virus.

    Science.gov (United States)

    Zhang, Xiao-Feng; Guo, Jiangbo; Zhang, Xiuchun; Meulia, Tea; Paul, Pierce; Madden, Laurence V; Li, Dawei; Qu, Feng

    2015-10-20

    Infection of plants with viruses containing multiple variants frequently leads to dominance by a few random variants in the systemically infected leaves (SLs), for which a plausible explanation is lacking. We show here that SL dominance by a given viral variant is adequately explained by its fortuitous lead in systemic spread, coupled with its resistance to superinfection by other variants. We analyzed the fate of a multi-variant turnip crinkle virus (TCV) population in Arabidopsis and N. benthamiana plants. Both wild-type and RNA silencing-defective plants displayed a similar pattern of random dominance by a few variant genotypes, thus discounting a prominent role for RNA silencing. When introduced to plants sequentially as two subpopulations, a twelve-hour head-start was sufficient for the first set to dominate. Finally, SLs of TCV-infected plants became highly resistant to secondary invasions of another TCV variant. We propose that random distribution of variant foci on inoculated leaves allows different variants to lead systemic movement in different plants. The leading variants then colonize large areas of SLs, and resist the superinfection of lagging variants in the same areas. In conclusion, superinfection resistance is the primary driver of random enrichment of viral variants in systemically infected plants.

  18. Spatially variant periodic structures in electromagnetics

    Science.gov (United States)

    Rumpf, Raymond C.; Pazos, Javier J.; Digaum, Jennefir L.; Kuebler, Stephen M.

    2015-01-01

    Spatial transforms are a popular technique for designing periodic structures that are macroscopically inhomogeneous. The structures are often required to be anisotropic, provide a magnetic response, and to have extreme values for the constitutive parameters in Maxwell's equations. Metamaterials and photonic crystals are capable of providing these, although sometimes only approximately. The problem still remains about how to generate the geometry of the final lattice when it is functionally graded, or spatially varied. This paper describes a simple numerical technique to spatially vary any periodic structure while minimizing deformations to the unit cells that would weaken or destroy the electromagnetic properties. New developments in this algorithm are disclosed that increase efficiency, improve the quality of the lattices and provide the ability to design aplanatic metasurfaces. The ability to spatially vary a lattice in this manner enables new design paradigms that are not possible using spatial transforms, three of which are discussed here. First, spatially variant self-collimating photonic crystals are shown to flow unguided waves around very tight bends using ordinary materials with low refractive index. Second, multi-mode waveguides in spatially variant band gap materials are shown to guide waves around bends without mixing power between the modes. Third, spatially variant anisotropic materials are shown to sculpt the near-field around electric components. This can be used to improve electromagnetic compatibility between components in close proximity. PMID:26217058

  19. Warty Carcinoma Penis: An Uncommon Variant

    Directory of Open Access Journals (Sweden)

    Sushma Thapa

    2017-01-01

    Full Text Available 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.

  20. Cryptanalysis of RSA and its variants

    CERN Document Server

    Hinek, M Jason

    2009-01-01

    Thirty years after RSA was first publicized, it remains an active research area. Although several good surveys exist, they are either slightly outdated or only focus on one type of attack. Offering an updated look at this field, Cryptanalysis of RSA and Its Variants presents the best known mathematical attacks on RSA and its main variants, including CRT-RSA, multi-prime RSA, and multi-power RSA. Divided into three parts, the book first introduces RSA and reviews the mathematical background needed for the majority of attacks described in the remainder of the text. It then brings together all of the most popular mathematical attacks on RSA and its variants. For each attack presented, the author includes a mathematical proof if possible or a mathematical justification for attacks that rely on assumptions. For the attacks that cannot be proven, he gives experimental evidence to illustrate their practical effectiveness. Focusing on mathematical attacks that exploit the structure of RSA and specific parameter choic...

  1. MR imaging of the ankle: Normal variants

    International Nuclear Information System (INIS)

    Noto, A.M.; Cheung, Y.; Rosenberg, Z.S.; Norman, A.; Leeds, N.E.

    1987-01-01

    Thirty asymptomatic ankles were studied with high-resolution surface coil MR imaging. The thirty ankles were reviewed for identification or normal structures. The MR appearance of the deltoid and posterior to talo-fibular ligaments, peroneous brevis and longus tendons, and posterior aspect of the tibial-talar joint demonstrated several normal variants not previously described. These should not be misinterpreted as pathologic processes. The specific findings included (1) cortical irregularity of the posterior tibial-talar joint in 27 of 30 cases which should not be mistaken for osteonecrois; (2) normal posterior talo-fibular ligament with irregular and frayed inhomogeneity, which represents a normal variant in seven of ten cases; and (3) fluid in the shared peroneal tendons sheath which may be confused for a longitudinal tendon tear in three of 30 cases. Ankle imaging with the use of MR is still a relatively new procedure. Further investigation is needed to better define normal anatomy as well as normal variants. The authors described several structures that normally present with variable MR imaging appearances. This is clinically significant in order to maintain a high sensitivity and specificity in MR imaging interpretation

  2. 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

  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. 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

    . The human MBL2 gene is highly polymorphic, and it causes varying MBL serum levels. Several of the single-nucleotide polymorphisms (SNPs) have been associated with the severity of diseases of bacterial, viral or parasitic origin. Association between various diseases and different MBL serum levels has also...

  5. Annotating pathogenic non-coding variants in genic regions.

    Science.gov (United States)

    Gelfman, Sahar; Wang, Quanli; McSweeney, K Melodi; Ren, Zhong; La Carpia, Francesca; Halvorsen, Matt; Schoch, Kelly; Ratzon, Fanni; Heinzen, Erin L; Boland, Michael J; Petrovski, Slavé; Goldstein, David B

    2017-08-09

    Identifying the underlying causes of disease requires accurate interpretation of genetic variants. Current methods ineffectively capture pathogenic non-coding variants in genic regions, resulting in overlooking synonymous and intronic variants when searching for disease risk. Here we present the Transcript-inferred Pathogenicity (TraP) score, which uses sequence context alterations to reliably identify non-coding variation that causes disease. High TraP scores single out extremely rare variants with lower minor allele frequencies than missense variants. TraP accurately distinguishes known pathogenic and benign variants in synonymous (AUC = 0.88) and intronic (AUC = 0.83) public datasets, dismissing benign variants with exceptionally high specificity. TraP analysis of 843 exomes from epilepsy family trios identifies synonymous variants in known epilepsy genes, thus pinpointing risk factors of disease from non-coding sequence data. TraP outperforms leading methods in identifying non-coding variants that are pathogenic and is therefore a valuable tool for use in gene discovery and the interpretation of personal genomes.While non-coding synonymous and intronic variants are often not under strong selective constraint, they can be pathogenic through affecting splicing or transcription. Here, the authors develop a score that uses sequence context alterations to predict pathogenicity of synonymous and non-coding genetic variants, and provide a web server of pre-computed scores.

  6. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  8. International EMS Systems

    DEFF Research Database (Denmark)

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

    2004-01-01

    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......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....... 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...

  9. Genetic Variants Associated with Circulating Parathyroid Hormone.

    Science.gov (United States)

    Robinson-Cohen, Cassianne; Lutsey, Pamela L; Kleber, Marcus E; Nielson, Carrie M; Mitchell, Braxton D; Bis, Joshua C; Eny, Karen M; Portas, Laura; Eriksson, Joel; Lorentzon, Mattias; Koller, Daniel L; Milaneschi, Yuri; Teumer, Alexander; Pilz, Stefan; Nethander, Maria; Selvin, Elizabeth; Tang, Weihong; Weng, Lu-Chen; Wong, Hoi Suen; Lai, Dongbing; Peacock, Munro; Hannemann, Anke; Völker, Uwe; Homuth, Georg; Nauk, Matthias; Murgia, Federico; Pattee, Jack W; Orwoll, Eric; Zmuda, Joseph M; Riancho, Jose Antonio; Wolf, Myles; Williams, Frances; Penninx, Brenda; Econs, Michael J; Ryan, Kathleen A; Ohlsson, Claes; Paterson, Andrew D; Psaty, Bruce M; Siscovick, David S; Rotter, Jerome I; Pirastu, Mario; Streeten, Elizabeth; März, Winfried; Fox, Caroline; Coresh, Josef; Wallaschofski, Henri; Pankow, James S; de Boer, Ian H; Kestenbaum, Bryan

    2017-05-01

    Parathyroid hormone (PTH) is a primary calcium regulatory hormone. Elevated serum PTH concentrations in primary and secondary hyperparathyroidism have been associated with bone disease, hypertension, and in some studies, cardiovascular mortality. Genetic causes of variation in circulating PTH concentrations are incompletely understood. We performed a genome-wide association study of serum PTH concentrations among 29,155 participants of European ancestry from 13 cohort studies ( n =22,653 and n =6502 in discovery and replication analyses, respectively). We evaluated the association of single nucleotide polymorphisms (SNPs) with natural log-transformed PTH concentration adjusted for age, sex, season, study site, and principal components of ancestry. We discovered associations of SNPs from five independent regions with serum PTH concentration, including the strongest association with rs6127099 upstream of CYP24A1 ( P =4.2 × 10 -53 ), a gene that encodes the primary catabolic enzyme for 1,25-dihydroxyvitamin D and 25-dihydroxyvitamin D. Each additional copy of the minor allele at this SNP associated with 7% higher serum PTH concentration. The other SNPs associated with serum PTH concentration included rs4074995 within RGS14 ( P =6.6 × 10 -17 ), rs219779 adjacent to CLDN14 ( P =3.5 × 10 -16 ), rs4443100 near RTDR1 ( P =8.7 × 10 -9 ), and rs73186030 near CASR ( P =4.8 × 10 -8 ). Of these five SNPs, rs6127099, rs4074995, and rs219779 replicated. Thus, common genetic variants located near genes involved in vitamin D metabolism and calcium and renal phosphate transport associated with differences in circulating PTH concentrations. Future studies could identify the causal variants at these loci, and the clinical and functional relevance of these variants should be pursued. Copyright © 2017 by the American Society of Nephrology.

  10. Complex branchial fistula: a variant arch anomaly.

    Science.gov (United States)

    De Caluwé, D; Hayes, R; McDermott, M; Corbally, M T

    2001-07-01

    A 5-year-old boy presented with an infected left-sided branchial fistula. Despite antibiotic treatment and repeated excision of the fistula, purulent discharge from the wound persisted. Three-dimensional computed tomography (3D CT) reconstruction greatly facilitated the diagnosis and management of this case by showing the course of the fistulous tract. The complexity of the tract suggests that this represents a variant arch anomaly because it contains features of first, second, third, and fourth arch remnants. Copyright 2001 by W.B. Saunders Company.

  11. Anatomy, normal variants, and basic biomechanics

    International Nuclear Information System (INIS)

    Berquist, T.H.; Johnson, K.A.

    1989-01-01

    This paper reports on the anatomy and basic functions of the foot and ankle important to physicians involved in imaging procedures, clinical medicine, and surgery. New radiographic techniques especially magnetic resonance imaging, provide more diagnostic information owing to improved tissue contrast and the ability to obtain multiple image planes (axial, sagittal, coronal, oblique). Therefore, a thorough knowledge of skeletal and soft tissue anatomy is even more essential. Normal variants must also be understood in order to distinguish normal from pathologic changes in the foot and ankle. A basic understanding of biomechanics is also essential for selecting the proper diagnostic techniques

  12. Research progress of behavioral variant frontotemporal dementia

    Directory of Open Access Journals (Sweden)

    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

  13. 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.

  14. 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)

  15. A poliomielite em Sergipe

    Directory of Open Access Journals (Sweden)

    Hélio A. Oliveira

    1994-06-01

    Full Text Available Os autores apresentam estudo retrospectivo da poliomielite em Sergipe. Dividem o estudo em três períodos levando em consideração a taxa de notificação de casos positivos e enfatizam o período que vai de 1979 a 1989, pelo estudo de 159 casos consecutivos. As seguintes informações foram levantadas para cada caso: sexo, idade, procedência, estado vacinai anterior e evolução clínica. São também avaliadas a incidência anual, relação incidência/cobertura vacinai e distribuição geográfica. Tecem comentários sobre os surtos epidêmicos ocorridos em 1984 e 1986, sobre as alterações na circulação do poliovírus selvagem (P1 para P3 e sobre problemas relacionados à não aquisição de imunidade em crianças com esquema vacinal completo. Consideram a poliomielite controlada no Estado, mas enfatizam a necessidade de manutenção de Vigilância epidemiológica efetiva para todos os casos de paralisia aguda e flácida em menores de 14 anos de idade.

  16. EM type radioactive standards. Radioaktivni etalony EM

    Energy Technology Data Exchange (ETDEWEB)

    1981-01-01

    The standard contains technical specifications and conditions of production, testing, packing, transport and storage of EM type planar calibration standards containing radionuclides /sup 14/C, /sup 60/Co, /sup 90/Sr, /sup 137/Cs, /sup 147/Pm, /sup 204/Tl, /sup 239/Pu, /sup 241/Am and natural U. The terminology is explained, the related Czechoslovak standards and legal prescriptions given and amendments to these prescriptions presented.

  17. Anemia e desnutrição em escolares da rede pública do município de Osasco, São Paulo, Brasil

    Directory of Open Access Journals (Sweden)

    Maria Lúcia R. Stefanini

    Full Text Available Com o objetivo de estimar a prevalência de anemia e conhecer o estado nutricional de escolares, foi realizado um estudo em uma amostra dos alunos ingressantes nas primeiras séries do primeiro grau das escolas públicas de Osasco, município integrante da Região Metropolitana de São Paulo. O diagnóstico de anemia foi feito através da dosagem da concentração de hemoglobina do sangue colhido por punção digital. O nível crítico utilizado para caracterizar a presença de anemia foi o estabelecido pela OMS. O estado nutricional foi avaliado utilizando os indicadores peso/idade e altura/idade expressos em escores Z e a população de referência do NCHS. A prevalência, de anemia encontrada foi de 51%n. Houve diferença nos níveis de prevalência quanto à localização geográfica das escolas, sendo maior (56,9% na Região Periférica do que na Região Central (41,7%. A presença de anemia também foi mais elevada em crianças cujos pais eram analfabetos. O risco de anemia foi superior entre as crianças que ingressaram no primeiro grau com idade superior a 8 anos. Não foi constatada presença significante de desnutrição aguda. Os resultados deste estudo destacam a anemia entre escolares como importante problema de Saúde Pública e ressaltam a urgência da implantação de programas de controle da anemia na população de escolares.

  18. Anemia e desnutrição em escolares da rede pública do município de Osasco, São Paulo, Brasil

    Directory of Open Access Journals (Sweden)

    Stefanini Maria Lúcia R.

    1995-01-01

    Full Text Available Com o objetivo de estimar a prevalência de anemia e conhecer o estado nutricional de escolares, foi realizado um estudo em uma amostra dos alunos ingressantes nas primeiras séries do primeiro grau das escolas públicas de Osasco, município integrante da Região Metropolitana de São Paulo. O diagnóstico de anemia foi feito através da dosagem da concentração de hemoglobina do sangue colhido por punção digital. O nível crítico utilizado para caracterizar a presença de anemia foi o estabelecido pela OMS. O estado nutricional foi avaliado utilizando os indicadores peso/idade e altura/idade expressos em escores Z e a população de referência do NCHS. A prevalência, de anemia encontrada foi de 51%n. Houve diferença nos níveis de prevalência quanto à localização geográfica das escolas, sendo maior (56,9% na Região Periférica do que na Região Central (41,7%. A presença de anemia também foi mais elevada em crianças cujos pais eram analfabetos. O risco de anemia foi superior entre as crianças que ingressaram no primeiro grau com idade superior a 8 anos. Não foi constatada presença significante de desnutrição aguda. Os resultados deste estudo destacam a anemia entre escolares como importante problema de Saúde Pública e ressaltam a urgência da implantação de programas de controle da anemia na população de escolares.

  19. Flavonoids as Inhibitors of Human Butyrylcholinesterase Variants

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    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

  20. Purification, Characterization and Antioxidant Activities <em>in Vitroem>> em>and <em>in Vivoem> of the Polysaccharides from <em>Boletus edulisem> Bull

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    Yijun Fan

    2012-07-01

    Full Text Available A water-soluble polysaccharide (BEBP was extracted from <em>Boletus edulis em>Bull using hot water extraction followed by ethanol precipitation. The polysaccharide BEBP was further purified by chromatography on a DEAE-cellulose column, giving three major polysaccharide fractions termed BEBP-1, BEBP-2 and BEBP-3. In the next experiment, the average molecular weight (Mw, IR and monosaccharide compositional analysis of the three polysaccharide fractions were determined. The evaluation of antioxidant activities both <em>in vitroem> and <em>in vivo em>suggested that BEBP-3 had good potential antioxidant activity, and should be explored as a novel potential antioxidant.

  1. Sulla presenza di <em>Sorex antinoriiem>, <em>Neomys anomalusem> (Insectivora, Soricidae e <em>Talpa caecaem> (Insectivora, Talpidae in Umbria

    Directory of Open Access Journals (Sweden)

    A.M. Paci

    2003-10-01

    Full Text Available Lo scopo del contributo è di fornire un aggiornamento sulla presenza del Toporagno del Vallese <em>Sorex antinoriiem>, del Toporagno acquatico di Miller <em>Neomys anomalusem> e della Talpa cieca <em>Talpa caecaem> in Umbria, dove le specie risultano accertate ormai da qualche anno. A tal fine sono stati rivisitati i reperti collezionati e la bibliografia conosciuta. Toporagno del Vallese: elevato di recente a livello di specie da Brünner et al. (2002, altrimenti considerato sottospecie del Toporagno comune (<em>S. araneus antinoriiem>. È conservato uno di tre crani incompleti (mancano mandibole ed incisivi superiori al momento prudenzialmente riferiti a <em>Sorex> cfr. <em>antinorii>, provenienti dall?Appennino umbro-marchigiano settentrionale (dintorni di Scalocchio - PG, 590 m. s.l.m. e determinati sulla base della pigmentazione rossa degli ipoconi del M1 e M2; Toporagno acquatico di Miller: tre crani (Breda in Paci e Romano op. cit. e un esemplare intero (Paci, ined. sono stati trovati a pochi chilometri di distanza gli uni dall?altro tra i comuni di Assisi e Valfabbrica, in ambienti mediocollinari limitrofi al Parco Regionale del M.te Subasio (Perugia. In provincia di Terni la specie viene segnalata da Isotti (op. cit. per i dintorni di Orvieto. Talpa cieca: sono noti una femmina e un maschio raccolti nel comune di Pietralunga (PG, rispettivamente in una conifereta a <em>Pinus nigraem> (m. 630 s.l.m. e nelle vicinanze di un bosco misto collinare a prevalenza di <em>Quercus cerrisem> (m. 640 s.l.m.. Recentemente un terzo individuo è stato rinvenuto nel comune di Sigillo (PG, all?interno del Parco Regionale di M.te Cucco, sul margine di una faggeta a 1100 m s.l.m. In entrambi i casi l?areale della specie è risultato parapatrico con quello di <em>Talpa europaeaem>.

  2. Dataset of mitochondrial genome variants in oncocytic tumors

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    Lihua Lyu

    2018-04-01

    Full Text Available This dataset presents the mitochondrial genome variants associated with oncocytic tumors. These data were obtained by Sanger sequencing of the whole mitochondrial genomes of oncocytic tumors and the adjacent normal tissues from 32 patients. The mtDNA variants are identified after compared with the revised Cambridge sequence, excluding those defining haplogroups of our patients. The pathogenic prediction for the novel missense variants found in this study was performed with the Mitimpact 2 program.

  3. 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.

  4. Differential Expression Profile of ZFX Variants Discriminates Breast Cancer Subtypes

    Science.gov (United States)

    Pourkeramati, Fatemeh; Asadi, Malek Hossein; Shakeri, Shahryar; Farsinejad, Alireza

    2018-05-13

    ZFX is a transcriptional regulator in embryonic stem cells that plays an important role in pluripotency and self-renewal. ZFX is widely expressed in pluripotent stem cells and is down-regulated during differentiation of embryonic stem cells. ZFX has five different variants that encode three different protein isoforms. While several reports have determined the overexpression of ZFX in a variety of somatic cancers, the expression of ZFX-spliced variants in cancer cells is not well-understood. We investigated the expression of ZFX variants in a series of breast cancer tissues and cell lines using quantitative PCR. The expression of ZFX variant 1/3 was higher in tumor tissue compared to marginal tissue. In contrast, the ZFX variant 5 was down-regulated in tumor tissues. While the ZFX variant 1/3 and ZFX variant 5 expression significantly increased in low-grade tumors, ZFX variant 4 was strongly expressed in high-grade tumors and demonstrating lymphatic invasion. In addition, our result revealed a significant association between the HER2 status and the expression of ZFX-spliced variants. Our data suggest that the expression of ZFX-spliced transcripts varies between different types of breast cancer and may contribute to their tumorigenesis process. Hence, ZFX-spliced transcripts could be considered as novel tumor markers with a probable value in diagnosis, prognosis, and therapy of breast cancer.

  5. Population structure analysis using rare and common functional variants

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    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.

  6. Human papillomavirus variants among Inuit women in northern Quebec, Canada.

    Science.gov (United States)

    Gauthier, Barbara; Coutlée, Francois; Franco, Eduardo L; Brassard, Paul

    2015-01-01

    Inuit communities in northern Quebec have high rates of human papillomavirus (HPV) infection, cervical cancer and cervical cancer-related mortality as compared to the Canadian population. HPV types can be further classified as intratypic variants based on the extent of homology in their nucleotide sequences. There is limited information on the distribution of intratypic variants in circumpolar areas. Our goal was to describe the HPV intratypic variants and associated baseline characteristics. We collected cervical cell samples in 2002-2006 from 676 Inuit women between the ages of 15 and 69 years in Nunavik. DNA isolates from high-risk HPVs were sequenced to determine the intratypic variant. There were 149 women that were positive for HPVs 16, 18, 31, 33, 35, 45, 52, 56 or 58 during follow-up. There were 5 different HPV16 variants, all of European lineage, among the 57 women positive for this type. There were 8 different variants of HPV18 present and all were of European lineage (n=21). The majority of samples of HPV31 (n=52) were of lineage B. The number of isolates and diversity of the other HPV types was low. Age was the only covariate associated with HPV16 variant category. These frequencies are similar to what was seen in another circumpolar region of Canada, although there appears to be less diversity as only European variants were detected. This study shows that most variants were clustered in one lineage for each HPV type.

  7. Determination of uranium by luminescent method (tablet variant)

    International Nuclear Information System (INIS)

    Sergeev, A.N.; Yufa, B.Ya.

    1985-01-01

    A new tablet variant of luminescent determination of uranium in rocks is developed. The analytical process includes the following operations: sample decomposition, uranium separation from luminescence quencher impurities, preparation of luminescent sample (tablet), photometry of the tablet. The method has two variants developed: the first one is characterized by a more hard decomposition, sample mass being 0.2 g; the second variant has a better detection limit (5x10 -6 %), the sample mass being 0.2-1 g. Procedures of the sample preparation for both variants of analysis are described

  8. Superior and inferior vena cavae: Embryology, variants, and pathology

    International Nuclear Information System (INIS)

    Mendelson, D.S.; Mitty, H.; Janus, C.; Gendal, E.; Berson, B.

    1987-01-01

    The superior and inferior venae cavae may be involved in a host of disease processes. Knowledge of the normal anatomy and variants of these structures is valuable in interpreting plain films and the results of angiographic procedures and all cross-sectional modalities. The authors review the embryology of venae cavae and proceed to describe their normal anatomy and variants. An awareness of the variants can prevent mistaking variants for pathologic processes. Finally, the authors describe pathology involving these vessels and demonstrate the radiographic manifestations

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

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    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.

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

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    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.

  11. 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

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    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.

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

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    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.

  13. Retratos em movimento.

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    Luiz Carlos Oliveira Junior

    Full Text Available resumo O artigo aborda aspectos da relação do cinema com a arte do retrato. Buscamos, em primeiro lugar, uma definição estética do que seria um retrato cinematográfico, sempre em tensão com os critérios formais e padrões estilísticos que historicamente constituíram o retrato pictórico. Em seguida, relacionamos essa questão com a importância que se deu à representação do close-up de rosto nas primeiras décadas do cinema, quando foi atribuído aos filmes um papel inédito no estudo da fisionomia e da expressão facial. Por fim, apresentamos exemplos de autorretratos na pintura e no cinema para expor a forma como a autorrepresentação põe em crise as noções de subjetividade e identidade em que a definição clássica do retrato se apoiava.

  14. 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 (LD 50 ) 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.

  15. <em>In Vivoem> Histamine Optical Nanosensors

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    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.

  16. 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.

  17. Eficácia e toxicidade da hidroxiuréia em crianças com anemia falciforme Effectiveness and toxicity of hydroxyurea in children with sickle cell anemia

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    Michelle C. Silva

    2006-06-01

    Full Text Available A anemia falciforme é uma doença genética caracterizada pelo alto índice de morbimortalidade, considerada como a mais grave entre as doenças falciformes. As opções terapêuticas mais eficazes atualmente disponíveis para tratamento desta hemoglobinopatia são transplante de medula óssea (TMO e hidroxiuréia (HU. O TMO apesar de ser a medida curativa é considerado de alto risco por apresentar diversos graus de complicações e significativo nível de mortalidade. O uso de HU em crianças portadoras de anemia falciforme tem proporcionado redução de complicações clínicas e aumento significativo na expectativa de vida, por promover elevação dos níveis de hemoglobina fetal, da concentração de hemoglobina e do VCM, bem como redução da hemólise e de eventos vaso-oclusivos. Desse modo, a HU é considerada como melhor opção terapêutica atualmente disponível. Porém, por ser apontada como droga potencialmente carcinogênica, há questionamentos quanto aos benefícios e toxicidades quando utilizada por longo período. Este trabalho teve como proposta, avaliar por meio da revisão literária, os riscos, benefícios e efeitos adversos da hidroxiuréia em crianças.Sickle cell anemia is a genetic disease characterized by a high morbimortality rate, it is considered as the most serious among all sickle cell diseases. The most effective therapeutic options available nowadays for the treatment of this hemoglobinopathy are bone morrow transplantation (BMT and hydroxyurea (HU. BMT is considered a high risk procedure due to the different complications and significant mortality rates. The use of HU for children with sickle cell anemia has reduced the clinical complications and given a significant increase in life expectancy by augmenting the fetal hemoglobin levels and hemoglobin concentrations and reducing cytomegalovirus, as well as reducing hemolysis and vaso-occlusive events. Thus, HU is considered the best therapeutic option currently

  18. Dificuldades de futuros professores do 1.º e 2.º ciclos em estocástica

    OpenAIRE

    Fernandes, José António; Barros, Paula Maria Pereira de

    2005-01-01

    Neste artigo relatam-se erros e dificuldades sentidas por 37 alunos do 4º ano do curso de Professores do Ensino Básico, variante de Matemática e Ciências da Natureza, de uma Escola Superior de Educação. Os dados foram recolhidos através de um questionário, incidindo em três temas: cálculo envolvendo medidas de tendência central, significado e interpretação das medidas de tendência central e acontecimentos e comparação de probabilidades. Em termos de resultados, salientam-se as ele...

  19. Variant facial artery in the submandibular region.

    Science.gov (United States)

    Vadgaonkar, Rajanigandha; Rai, Rajalakshmi; Prabhu, Latha V; Bv, Murlimanju; Samapriya, Neha

    2012-07-01

    Facial artery has been considered to be the most important vascular pedicle in facial rejuvenation procedures and submandibular gland (SMG) resection. It usually arises from the external carotid artery and passes from the carotid to digastric triangle, deep to the posterior belly of digastric muscle, and lodges in a groove at the posterior end of the SMG. It then passes between SMG and the mandible to reach the face after winding around the base of the mandible. During a routine dissection, in a 62-year-old female cadaver, in Kasturba Medical College Mangalore, an unusual pattern in the cervical course of facial artery was revealed. The right facial artery was found to pierce the whole substance of the SMG before winding around the lower border of the mandible to enter the facial region. Awareness of existence of such a variant and its comparison to the normal anatomy will be useful to oral and maxillofacial surgeons.

  20. Fast Ordered Sampling of DNA Sequence Variants

    Directory of Open Access Journals (Sweden)

    Anthony J. Greenberg

    2018-05-01

    Full Text Available Explosive growth in the amount of genomic data is matched by increasing power of consumer-grade computers. Even applications that require powerful servers can be quickly tested on desktop or laptop machines if we can generate representative samples from large data sets. I describe a fast and memory-efficient implementation of an on-line sampling method developed for tape drives 30 years ago. Focusing on genotype files, I test the performance of this technique on modern solid-state and spinning hard drives, and show that it performs well compared to a simple sampling scheme. I illustrate its utility by developing a method to quickly estimate genome-wide patterns of linkage disequilibrium (LD decay with distance. I provide open-source software that samples loci from several variant format files, a separate program that performs LD decay estimates, and a C++ library that lets developers incorporate these methods into their own projects.

  1. Fast Ordered Sampling of DNA Sequence Variants.

    Science.gov (United States)

    Greenberg, Anthony J

    2018-05-04

    Explosive growth in the amount of genomic data is matched by increasing power of consumer-grade computers. Even applications that require powerful servers can be quickly tested on desktop or laptop machines if we can generate representative samples from large data sets. I describe a fast and memory-efficient implementation of an on-line sampling method developed for tape drives 30 years ago. Focusing on genotype files, I test the performance of this technique on modern solid-state and spinning hard drives, and show that it performs well compared to a simple sampling scheme. I illustrate its utility by developing a method to quickly estimate genome-wide patterns of linkage disequilibrium (LD) decay with distance. I provide open-source software that samples loci from several variant format files, a separate program that performs LD decay estimates, and a C++ library that lets developers incorporate these methods into their own projects. Copyright © 2018 Greenberg.

  2. 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.)

  3. 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>.>

  4. Nuclear variants of bone morphogenetic proteins

    Directory of Open Access Journals (Sweden)

    Meinhart Christopher A

    2010-03-01

    Full Text Available Abstract Background Bone morphogenetic proteins (BMPs contribute to many different aspects of development including mesoderm formation, heart development, neurogenesis, skeletal development, and axis formation. They have previously been recognized only as secreted growth factors, but the present study detected Bmp2, Bmp4, and Gdf5/CDMP1 in the nuclei of cultured cells using immunocytochemistry and immunoblotting of nuclear extracts. Results In all three proteins, a bipartite nuclear localization signal (NLS was found to overlap the site at which the proproteins are cleaved to release the mature growth factors from the propeptides. Mutational analyses indicated that the nuclear variants of these three proteins are produced by initiating translation from downstream alternative start codons. The resulting proteins lack N-terminal signal peptides and are therefore translated in the cytoplasm rather than the endoplasmic reticulum, thus avoiding proteolytic processing in the secretory pathway. Instead, the uncleaved proteins (designated nBmp2, nBmp4, and nGdf5 containing the intact NLSs are translocated to the nucleus. Immunostaining of endogenous nBmp2 in cultured cells demonstrated that the amount of nBmp2 as well as its nuclear/cytoplasmic distribution differs between cells that are in M-phase versus other phases of the cell cycle. Conclusions The observation that nBmp2 localization varies throughout the cell cycle, as well as the conservation of a nuclear localization mechanism among three different BMP family members, suggests that these novel nuclear variants of BMP family proteins play an important functional role in the cell.

  5. 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

    OpenAIRE

    Adriana da Silva Rodrigues Cavacanti; Sheila Magaly de Souza Gama; Juliana da Silva Rocha; Rui de Macêdo Chaves Filho; Maria Consuêlo Caribé Ayres; Maria Ângela Ornelas de Almeida; Thereza Cristina Borio dos Santos Calmon Bittencourt

    2009-01-01

    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-ED...

  6. 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

  7. 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.

  8. 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...

  9. Nietzsche em voga

    OpenAIRE

    Borromeu, Carlos

    2015-01-01

    Resumo:Texto publicado em 1941, na revista de orientação católica A Ordem, no Rio de Janeiro. Seu autor considera que Nietzsche teria negado a moral tradicional, concebendo em seu lugar outra, porém imoral e brutal. Acusa o filósofo, por fim, de ser responsável pela Guerra ora e curso na Europa. Abstract:Text published in 1941 in the Catholic orientation magazine, A Ordem, in Rio de Janeiro. The author believes that Nietzsche would have denied traditional morality, conceiving another in it...

  10. Re-Ranking Sequencing Variants in the Post-GWAS Era for Accurate Causal Variant Identification

    Science.gov (United States)

    Faye, Laura L.; Machiela, Mitchell J.; Kraft, Peter; Bull, Shelley B.; Sun, Lei

    2013-01-01

    Next generation sequencing has dramatically increased our ability to localize disease-causing variants by providing base-pair level information at costs increasingly feasible for the large sample sizes required to detect complex-trait associations. Yet, identification of causal variants within an established region of association remains a challenge. Counter-intuitively, certain factors that increase power to detect an associated region can decrease power to localize the causal variant. First, combining GWAS with imputation or low coverage sequencing to achieve the large sample sizes required for high power can have the unintended effect of producing differential genotyping error among SNPs. This tends to bias the relative evidence for association toward better genotyped SNPs. Second, re-use of GWAS data for fine-mapping exploits previous findings to ensure genome-wide significance in GWAS-associated regions. However, using GWAS findings to inform fine-mapping analysis can bias evidence away from the causal SNP toward the tag SNP and SNPs in high LD with the tag. Together these factors can reduce power to localize the causal SNP by more than half. Other strategies commonly employed to increase power to detect association, namely increasing sample size and using higher density genotyping arrays, can, in certain common scenarios, actually exacerbate these effects and further decrease power to localize causal variants. We develop a re-ranking procedure that accounts for these adverse effects and substantially improves the accuracy of causal SNP identification, often doubling the probability that the causal SNP is top-ranked. Application to the NCI BPC3 aggressive prostate cancer GWAS with imputation meta-analysis identified a new top SNP at 2 of 3 associated loci and several additional possible causal SNPs at these loci that may have otherwise been overlooked. This method is simple to implement using R scripts provided on the author's website. PMID:23950724

  11. Genomewide association study identifies no major founder variant in ...

    Indian Academy of Sciences (India)

    2013-12-10

    Dec 10, 2013 ... variant in Caucasian moyamoya disease ... 1Department of Health and Environmental Sciences, Kyoto University Graduate ... a low prevalence in European countries (Goto and Yonekawa. 1992; Kuroda and Houkin 2008). We have found that the p.R4810K variant in the ring finger protein 213 (RNF213).

  12. 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

  13. Germline Variants of Prostate Cancer in Japanese Families.

    Directory of Open Access Journals (Sweden)

    Takahide Hayano

    Full Text Available Prostate cancer (PC is the second most common cancer in men. Family history is the major risk factor for PC. Only two susceptibility genes were identified in PC, BRCA2 and HOXB13. A comprehensive search of germline variants for patients with PC has not been reported in Japanese families. In this study, we conducted exome sequencing followed by Sanger sequencing to explore responsible germline variants in 140 Japanese patients with PC from 66 families. In addition to known susceptibility genes, BRCA2 and HOXB13, we identified TRRAP variants in a mutually exclusive manner in seven large PC families (three or four patients per family. We also found shared variants of BRCA2, HOXB13, and TRRAP from 59 additional small PC families (two patients per family. We identified two deleterious HOXB13 variants (F127C and G132E. Further exploration of the shared variants in rest of the families revealed deleterious variants of the so-called cancer genes (ATP1A1, BRIP1, FANCA, FGFR3, FLT3, HOXD11, MUTYH, PDGFRA, SMARCA4, and TCF3. The germline variant profile provides a new insight to clarify the genetic etiology and heterogeneity of PC among Japanese men.

  14. Holographic representation of space-variant systems: system theory.

    Science.gov (United States)

    Marks Ii, R J; Krile, T F

    1976-09-01

    System theory for holographic representation of linear space-variant systems is derived. The utility of the resulting piecewise isoplanatic approximation (PIA) is illustrated by example application to the invariant system, ideal magnifier, and Fourier transformer. A method previously employed to holographically represent a space-variant system, the discrete approximation, is shown to be a special case of the PIA.

  15. 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.

  16. Androgen Receptor Splice Variants and Resistance to Taxane Chemotherapy

    Science.gov (United States)

    2017-10-01

    resistant prostate cancer ; docetaxel; cabazitaxel; chemotherapy; androgen receptor splice variants; microtubule; ligand-binding domain; microtubule... receptor splice variants (AR-Vs) are associated with resistance to taxane chemotherapy in castration- resistant prostate cancer (CRPC). However, this...androgen receptor inhibitors in prostate cancer . Nat Rev Cancer . 2015;15:701–11.

  17. 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...

  18. Variant Creutzfeldt-Jakob Disease (vCJD)

    Science.gov (United States)

    ... Form Controls Cancel Submit Search the CDC Variant Creutzfeldt-Jakob Disease (vCJD) Note: Javascript is disabled or is not ... gov . Recommend on Facebook Tweet Share Compartir Variant Creutzfeldt-Jakob disease (vCJD) is a prion disease that was first ...

  19. Genetics Home Reference: GM2-gangliosidosis, AB variant

    Science.gov (United States)

    ... Resources Genetic Testing (1 link) Genetic Testing Registry: Tay-Sachs disease, variant AB General Information from MedlinePlus (5 links) ... AB variant Activator Deficiency/GM2 Gangliosidosis Activator-deficient Tay-Sachs disease GM2 Activator Deficiency Disease GM2 gangliosidosis, type AB ...

  20. 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

  1. 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

    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

  2. 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.

  3. ADULT VARIANT BARTTER’S SYNDROME- A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Ishwar Sidappa Hasabi

    2017-02-01

    Full Text Available BACKGROUND Bartter syndrome is a group of channelopathies with different genetic origins and molecular pathophysiologies, but sharing common feature of decreased tubular transport of sodium chloride in thick ascending loop of Henle (TAL, 1 although more common in antenatal group. Classic adult variant of Bartter syndrome is a rare entity. We hereby present a rare adult variant of classic Bartter syndrome.

  4. 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.

  5. Combinations of Genetic Variants Occurring Exclusively in Patients

    Directory of Open Access Journals (Sweden)

    Erling Mellerup

    Full Text Available In studies of polygenic disorders, scanning the genetic variants can be used to identify variant combinations. Combinations that are exclusively found in patients can be separated from those combinations occurring in control persons. Statistical analyses can be performed to determine whether the combinations that occur exclusively among patients are significantly associated with the investigated disorder. This research strategy has been applied in materials from various polygenic disorders, identifying clusters of patient-specific genetic variant combinations that are significant associated with the investigated disorders. Combinations from these clusters are found in the genomes of up to 55% of investigated patients, and are not present in the genomes of any control persons. Keywords: Genetic variants, Polygenic disorder, Combinations of genetic variants, Patient-specific combinations

  6. Golden Rule of Morphology and Variants of Word forms

    Directory of Open Access Journals (Sweden)

    Hlaváčová Jaroslava

    2017-12-01

    Full Text Available In many languages, some words can be written in several ways. We call them variants. Values of all their morphological categories are identical, which leads to an identical morphological tag. Together with the identical lemma, we have two or more wordforms with the same morphological description. This ambiguity may cause problems in various NLP applications. There are two types of variants – those affecting the whole paradigm (global variants and those affecting only wordforms sharing some combinations of morphological values (inflectional variants. In the paper, we propose means how to tag all wordforms, including their variants, unambiguously. We call this requirement “Golden rule of morphology”. The paper deals mainly with Czech, but the ideas can be applied to other languages as well.

  7. Electrophoretic variants of blood proteins in Japanese, 7

    International Nuclear Information System (INIS)

    Satoh, Chiyoko; Takahashi, Norio; Kimura, Yasukazu; Miura, Akiko; Kaneko, Junko; Fujita, Mikio; Toyama, Kyoko.

    1986-11-01

    A total of 16,835 children, of whom 11,737 are unrelated, from Hiroshima and Nagasaki were examined for erythrocyte cytoplasmic glutamate-oxaloacetate transaminase (GOT1) by starch gel electrophoresis. A variant allele named GOT1*2HR1 which seems to be identical with GOT1*2 was encountered in polymorphic frequency. Five kinds of rare variants, 3NG1, 4NG1, 5NG1, 6HR1, and 7NG1 were encountered in a total of 109 children. Except for 7NG1 for which complete family study was unable, family studies confirmed the genetic nature of these rare variants, since for all instances in which both parents could be examined, one of the parents exhibited the same variant as that of their child. Thermostability profiles of these six variants were normal. The enzyme activities of five were decreased, while the value of one was normal compared to that of GOT1 1. (author)

  8. 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

  9. 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.

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

    Directory of Open Access Journals (Sweden)

    Faming Liang

    Full Text Available 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.

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

    KAUST Repository

    Liang, Faming; Xiong, Momiao

    2013-01-01

    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.

  12. In vivo model experiment using laying hens treated with Enterococcus faecium EM41 from ostrich faeces and its enterocin EM41

    Directory of Open Access Journals (Sweden)

    Andrea Lauková1,

    2017-10-01

    Full Text Available Enterococcus faecium EM41 is an isolate from ostrich faeces. It produces a thermo-stable proteinaceous substance, bacteriocin (enterocin EM41 with the highest inhibition activity in late logarithmic phase of growth (25 600 AU/ml. This strain and its enterocin have not been previously tested in animals. Lohmann Brown laying hens (aged 45 weeks were involved in this model/pilot experiment, divided into 3 groups 6 birds in each. E. faecium EM41 applied was a variant treated with rifampicin (109 cfu/ml, dose 400 μl/animal/day to differentiate it from the other enterococci. Partially-purified enterocin EM41 (Ent EM41, dose 40 μl/animal/day and its producer were applied to water for 21 days. The experiment lasted 35 days. Sampling was performed at days 0 - 1, 21 (3 weeks of additive application, 35 (2 weeks after cessation of additive application from every bird. E. faecium EM41 sufficiently colonized the intestinal tract of laying hens from the initial concentration 109 cfu/g, its count reached 4.30 log cfu/g at day 21. PCR genotypization confirmed the identity of the EM41 strain with the species Enterococcus faecium. E. faecium EM41 and its enterocin EM41 showed antimicrobial effects demonstrated by reduction of coagulase-positive and coagulase-negative staphylococci, coliforms, Pseudomonas spp., Aeromonas spp. and Campylobacter spp. The hens were Salmonella spp. free. After administration of both additives, phagocytic activity was stimulated with a significant increase. The additives did not negatively influence biochemical and haematological parameters or weight gains.

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

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    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.

  14. Erythrocyte indices and serum ferritin in newborns Indices de eritrócitos e ferritina sérica em recém-nascidos

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    Maria de Fatima Pussick Nunes

    2010-01-01

    idade gestacional (AIG, 23 RN a termo PIG e 13 RN pré-termo AIG. A média, desvio-padrão (DP, e valor máximo e mínimo foram usados para descrever os níveis de hemoglobina (Hb, número de hemácias (Hm, hematócrito (HCT, volume globular médio (VGM, hemoglobina globular média (HGM, amplitude de distribuição das hemácias e ferritina sérica. Os valores mais altos de Hm, Hb, HCT e ferritina sérica foram identificados nos RN a termo PIG, e os mais baixos foram encontrados nos RN pré-termo AIG. Os RN a termo AIG apresentaram valores intermediários para todos referidos parâmetros eritrocitários. Neste estudo foram observados valores hematológicos mais elevados em RN a termo PIG, apesar desses RN apresentarem maior probabilidade de deficiência de ferro; indicando a necessidade de um diagnóstico mais detalhado da deficiência de ferro ao nascer, neste grupo de RN, usando a combinação de vários testes.

  15. Estado nutricional de nutrizes adolescentes em diferentes semanas pós-parto Nutritional status of lactanting adolescents in different postpartum weeks

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    Vilma Blondet de Azeredo

    2011-04-01

    Full Text Available OBJETIVO: avaliar as modificações do estado nutricional de nutrizes adolescentes em diferentes momentos no pós-parto. MÉTODO: estudo do tipo analítico observacional longitudinal, com acompanhamento de 50 nutrizes adolescentes da 5ª a 15ª semana pós-parto (SPP. O estado nutricional foi avaliado na 5ª, 10ª e 15ª SPP, com uso do Índice de Massa Corporal (IMC/idade. Foi utilizado o método colorimétrico para avaliação da hemoglobina e microcentrifugação para o hematócrito. Usou-se ANOVA com medidas de repetição e Tukey como pós-teste, para comparação das médias. Trabalhou-se com nível de significância de 5%. RESULTADOS: observou-se modificação no estado nutricional do período pré-gestacional para a 15ª SPP, com diminuição na frequência de voluntárias com baixo peso (de 21% para 9% e aumento nos casos de sobrepeso (de 21% para 27% e eutrofia (58% para 64%. Apesar de, em média, as concentrações de hemoglobina (12,3±1,7g/dL e hematócrito (39,0±4,0% apresentarem-se adequados, observou-se grande frequência de anemia (30% durante todo o período estudado. CONCLUSÃO: os resultados mostram incremento no peso corporal em função do tempo de lactação, aumentando o problema da obesidade na adolescência. Também foi apontado que a anemia é um problema nutricional, não apenas durante a gestação, mas também na lactação em adolescentes. Portanto, deve-se prevenir e tratar possíveis deficiências nutricionais subclínicas existentes neste momento biológico.PURPOSE: to evaluate changes in the nutritional status of lactating adolescents in different postpartum weeks. METHOD: this is an analytical, observational, longitudinal study. Lactating adolescents were followed-up from the 5th to the 15th postpartum week (PPW. The nutritional status was evaluated in the 5th, 10th and 15th PPW by the Body Mass Index (BMI/age. A colorimetric method was used to determine hemoglobin level and microcentrifugation to define

  16. Estudo comparativo de indicadores bioquímicos de concentração de ferro, em duas populações de gestantes, com e sem atendimento pré-natal A comparative study of biochemical indicators of iron concentration in two groups of pregnant women, with and without pre-natal care

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    Sophia Cornbluth Szarfarc

    1982-02-01

    Full Text Available Foi avaliada a influência da quantidade do atendimento pré-natal na deficiência de ferro entre gestantes com 36 e mais semanas de gravidez, em comparação com um grupo padrão. A amostra foi distribuída em 3 grupos: GP - com pré-natal de "acreditação" satisfatória (grupo padrão; CPN com pré-natal, de diferentes qualidades; SPN - sem pré-natal. Os resultados obtidos para hemoglobina mostraram que no grupo padrão (GP a prevalência e severidade de anemia são significativamente menores do que no grupo com pré-natal (CPN e este do que no sem pré-natal (SPN. Os resultados obtidos na relação hemoglobina/hematócrito, ferro sérico e capacidade total de ligação de ferro apresentaram o GP em situação significativamente melhor do que os grupos CPN e SPN que não foram estatisticamente diferentes entre si. Chamou-se a atenção para a necessidade de aumento de cobertura e uniformização na qualidade dos serviços de pré-natal, com o objetivo de diminuir a prevalência de deficiência de ferro entre gestantes.The influence of the amount of pre-natal care on the prevalence of iron-deficiency among women, 36 weeks or more pregnant, was assessed. The sample population was divided into three groups: the Standard Group (GP - with adequate assistance of the pre-natal care services from the first trimester of pregnancy onwards; those who received pre-natal assistance, but of varying adequacy and begun at different gestational ages (CPN; and those who received no pre-natal assistance at all (SPN. The results obtained from hemoglobin analysis showed that prevalence and severity of anemia increases significantly from the GP to the SPN. The analysis of the mean corpuscular hemoglobin concentration, serum iron and transferrin saturation showed no statistically significant differences between groups CPN and SPN; the GP showed better results when compared to the other two. Attention is called to the necessity of pre-natal care and the

  17. Comprometimento sensório-motor dos membros inferiores em diabéticos do tipo 2

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    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

  18. Clinical Relevance of <em>CDH1em> and <em>CDH13em> DNA-Methylation in Serum of Cervical Cancer Patients

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    Günther K. Bonn

    2012-07-01

    Full Text Available This study was designed to investigate the DNA-methylation status of <em>E>-cadherin (<em>CDH1em> and <em>H>-cadherin (<em>CDH13em> in serum samples of cervical cancer patients and control patients with no malignant diseases and to evaluate the clinical utility of these markers. DNA-methylation status of <em>CDH1em> and <em>CDH13em> was analyzed by means of MethyLight-technology in serum samples from 49 cervical cancer patients and 40 patients with diseases other than cancer. To compare this methylation analysis with another technique, we analyzed the samples with a denaturing high performance liquid chromatography (DHPLC PCR-method. The specificity and sensitivity of <em>CDH1em> DNA-methylation measured by MethyLight was 75% and 55%, and for <em>CDH13em> DNA-methylation 95% and 10%. We identified a specificity of 92.5% and a sensitivity of only 27% for the <em>CDH1em> DHPLC-PCR analysis. Multivariate analysis showed that serum <em>CDH1em> methylation-positive patients had a 7.8-fold risk for death (95% CI: 2.2–27.7; <em>p> = 0.001 and a 92.8-fold risk for relapse (95% CI: 3.9–2207.1; <em>p> = 0.005. We concluded that the serological detection of <em>CDH1em> and <em>CDH13em> DNA-hypermethylation is not an ideal diagnostic tool due to low diagnostic specificity and sensitivity. However, it was validated that <em>CDH1em> methylation analysis in serum samples may be of potential use as a prognostic marker for cervical cancer patients.

  19. 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.

  20. A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

    NARCIS (Netherlands)

    Rivas, Manuel A.; Graham, Daniel; Sulem, Patrick; Stevens, Christine; Desch, A. Nicole; Goyette, Philippe; Gudbjartsson, Daniel; Jonsdottir, Ingileif; Thorsteinsdottir, Unnur; Degenhardt, Frauke; Mucha, Soeren; Kurki, Mitja I.; Li, Dalin; D'Amato, Mauro; Annese, Vito; Vermeire, Severine; Weersma, Rinse K.; Halfvarson, Jonas; Paavola-Sakki, Paulina; Lappalainen, Maarit; Lek, Monkol; Cummings, Beryl; Tukiainen, Taru; Haritunians, Talin; Halme, Leena; Koskinen, Lotta L. E.; Ananthakrishnan, Ashwin N.; Luo, Yang; Heap, Graham A.; Visschedijk, Marijn C.; MacArthur, Daniel G.; Neale, Benjamin M.; Ahmad, Tariq; Anderson, Carl A.; Brant, Steven R.; Duerr, Richard H.; Silverberg, Mark S.; Cho, Judy H.; Palotie, Aarno; Saavalainen, Paivi; Kontula, Kimmo; Farkkila, Martti; McGovern, Dermot P. B.; Franke, Andre; Stefansson, Kari; Rioux, John D.; Xavier, Ramnik J.; Daly, Mark J.

    Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring protection against inflammatory bowel disease exploiting knowledge of common variants

  1. Genetics Home Reference: Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant

    Science.gov (United States)

    ... SBBYS variant Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant Printable PDF Open All Close All Enable ... collapse boxes. Description The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare ...

  2. INTERFERÊNCIAS EM EXAMES LABORATORIAIS: CRITÉRIO DIAGNÓSTICO PARA O DIABETES MELLITUS E PRINCIPAIS FÁRMACOS HIPOGLICEMIANTES

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    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.

  3. Anemia e deficiência de ferro em gestantes adolescentes Anemia and iron deficiency in pregnant adolescents

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    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.

  4. HB D Los Angeles in a Brazilian family Hb D Los Angeles em família brasileira

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    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.

  5. Genotype–phenotype correlations in individuals with pathogenic RERE variants

    Science.gov (United States)

    Jordan, Valerie K.; Fregeau, Brieana; Ge, Xiaoyan; Giordano, Jessica; Wapner, Ronald J.; Balci, Tugce B.; Carter, Melissa T.; Bernat, John A.; Moccia, Amanda N.; Srivastava, Anshika; Martin, Donna M.; Bielas, Stephanie L.; Pappas, John; Svoboda, Melissa D.; Rio, Marlène; Boddaert, Nathalie; Cantagrel, Vincent; Lewis, Andrea M.; Scaglia, Fernando; Kohler, Jennefer N.; Bernstein, Jonathan A.; Dries, Annika M.; Rosenfeld, Jill A.; DeFilippo, Colette; Thorson, Willa; Yang, Yaping; Sherr, Elliott H.; Bi, Weimin; Scott, Daryl A.

    2018-01-01

    Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Here, we report nine individuals with NEDBEH who carry partial deletions or deleterious sequence variants in RERE. These variants were found to be de novo in all cases in which parental samples were available. An analysis of data from individuals with NEDBEH suggests that point mutations affecting the Atrophin-1 domain of RERE are associated with an increased risk of structural eye defects, congenital heart defects, renal anomalies, and sensorineural hearing loss when compared with loss-of-function variants that are likely to lead to haploinsufficiency. A high percentage of RERE pathogenic variants affect a histidine-rich region in the Atrophin-1 domain. We have also identified a recurrent two-amino-acid duplication in this region that is associated with the development of a CHARGE syndrome-like phenotype. We conclude that mutations affecting RERE result in a spectrum of clinical phenotypes. Genotype–phenotype correlations exist and can be used to guide medical decision making. Consideration should also be given to screening for RERE variants in individuals who fulfill diagnostic criteria for CHARGE syndrome but do not carry pathogenic variants in CHD7. PMID:29330883

  6. Gain-of-function HCN2 variants in genetic epilepsy.

    Science.gov (United States)

    Li, Melody; Maljevic, Snezana; Phillips, A Marie; Petrovski, Slave; Hildebrand, Michael S; Burgess, Rosemary; Mount, Therese; Zara, Federico; Striano, Pasquale; Schubert, Julian; Thiele, Holger; Nürnberg, Peter; Wong, Michael; Weisenberg, Judith L; Thio, Liu Lin; Lerche, Holger; Scheffer, Ingrid E; Berkovic, Samuel F; Petrou, Steven; Reid, Christopher A

    2018-02-01

    Genetic generalized epilepsy (GGE) is a common epilepsy syndrome that encompasses seizure disorders characterized by spike-and-wave discharges (SWDs). Pacemaker hyperpolarization-activated cyclic nucleotide-gated channels (HCN) are considered integral to SWD genesis, making them an ideal gene candidate for GGE. We identified HCN2 missense variants from a large cohort of 585 GGE patients, recruited by the Epilepsy Phenome-Genome Project (EPGP), and performed functional analysis using two-electrode voltage clamp recordings from Xenopus oocytes. The p.S632W variant was identified in a patient with idiopathic photosensitive occipital epilepsy and segregated in the family. This variant was also independently identified in an unrelated patient with childhood absence seizures from a European cohort of 238 familial GGE cases. The p.V246M variant was identified in a patient with photo-sensitive GGE and his father diagnosed with juvenile myoclonic epilepsy. Functional studies revealed that both p.S632W and p.V246M had an identical functional impact including a depolarizing shift in the voltage dependence of activation that is consistent with a gain-of-function. In contrast, no biophysical changes resulted from the introduction of common population variants, p.E280K and p.A705T, and the p.R756C variant from EPGP that did not segregate with disease. Our data suggest that HCN2 variants can confer susceptibility to GGE via a gain-of-function mechanism. © 2017 Wiley Periodicals, Inc.

  7. NMNAT1 variants cause cone and cone-rod dystrophy.

    Science.gov (United States)

    Nash, Benjamin M; Symes, Richard; Goel, Himanshu; Dinger, Marcel E; Bennetts, Bruce; Grigg, John R; Jamieson, Robyn V

    2018-03-01

    Cone and cone-rod dystrophies (CD and CRD, respectively) are degenerative retinal diseases that predominantly affect the cone photoreceptors. The underlying disease gene is not known in approximately 75% of autosomal recessive cases. Variants in NMNAT1 cause a severe, early-onset retinal dystrophy called Leber congenital amaurosis (LCA). We report two patients where clinical phenotyping indicated diagnoses of CD and CRD, respectively. NMNAT1 variants were identified, with Case 1 showing an extremely rare homozygous variant c.[271G > A] p.(Glu91Lys) and Case 2 compound heterozygous variants c.[53 A > G];[769G > A] p.(Asn18Ser);(Glu257Lys). The detailed variant analysis, in combination with the observation of an associated macular atrophy phenotype, indicated that these variants were disease-causing. This report demonstrates that the variants in NMNAT1 may cause CD or CRD associated with macular atrophy. Genetic investigations of the patients with CD or CRD should include NMNAT1 in the genes examined.

  8. A geometric framework for evaluating rare variant tests of association.

    Science.gov (United States)

    Liu, Keli; Fast, Shannon; Zawistowski, Matthew; Tintle, Nathan L

    2013-05-01

    The wave of next-generation sequencing data has arrived. However, many questions still remain about how to best analyze sequence data, particularly the contribution of rare genetic variants to human disease. Numerous statistical methods have been proposed to aggregate association signals across multiple rare variant sites in an effort to increase statistical power; however, the precise relation between the tests is often not well understood. We present a geometric representation for rare variant data in which rare allele counts in case and control samples are treated as vectors in Euclidean space. The geometric framework facilitates a rigorous classification of existing rare variant tests into two broad categories: tests for a difference in the lengths of the case and control vectors, and joint tests for a difference in either the lengths or angles of the two vectors. We demonstrate that genetic architecture of a trait, including the number and frequency of risk alleles, directly relates to the behavior of the length and joint tests. Hence, the geometric framework allows prediction of which tests will perform best under different disease models. Furthermore, the structure of the geometric framework immediately suggests additional classes and types of rare variant tests. We consider two general classes of tests which show robustness to noncausal and protective variants. The geometric framework introduces a novel and unique method to assess current rare variant methodology and provides guidelines for both applied and theoretical researchers. © 2013 Wiley Periodicals, Inc.

  9. Behavioural-variant frontotemporal dementia: An update

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    Olivier Piguet

    Full Text Available ABSTRACT Behavioural-variant frontotemporal dementia (bvFTD is characterised by insidious changes in personality and interpersonal conduct that reflect progressive disintegration of the neural circuits involved in social cognition, emotion regulation, motivation and decision making. The underlying pathology is heterogeneous and classified according to the presence of intraneuronal inclusions of tau, TDP-43 or occasionally FUS. Biomarkers to detect these histopathological changes in life are increasingly important with the development of disease-modifying drugs. Gene mutations have been found which collectively account for around 10-20% of cases including a novel hexanucleotide repeat on chromosome 9 (C9orf72. The recently reviewed International Consensus Criteria for bvFTD propose three levels of diagnostic certainly: possible, probable and definite. Detailed history taking from family members to elicit behavioural features underpins the diagnostic process with support from neuropsychological testing designed to detect impairment in decision-making, emotion processing and social cognition. Brain imaging is important for increasing the level of diagnosis certainty. Carer education and support remain of paramount importance.

  10. Spatially variant morphological restoration and skeleton representation.

    Science.gov (United States)

    Bouaynaya, Nidhal; Charif-Chefchaouni, Mohammed; Schonfeld, Dan

    2006-11-01

    The theory of spatially variant (SV) mathematical morphology is used to extend and analyze two important image processing applications: morphological image restoration and skeleton representation of binary images. For morphological image restoration, we propose the SV alternating sequential filters and SV median filters. We establish the relation of SV median filters to the basic SV morphological operators (i.e., SV erosions and SV dilations). For skeleton representation, we present a general framework for the SV morphological skeleton representation of binary images. We study the properties of the SV morphological skeleton representation and derive conditions for its invertibility. We also develop an algorithm for the implementation of the SV morphological skeleton representation of binary images. The latter algorithm is based on the optimal construction of the SV structuring element mapping designed to minimize the cardinality of the SV morphological skeleton representation. Experimental results show the dramatic improvement in the performance of the SV morphological restoration and SV morphological skeleton representation algorithms in comparison to their translation-invariant counterparts.

  11. CRY2 genetic variants associate with dysthymia.

    Directory of Open Access Journals (Sweden)

    Leena Kovanen

    Full Text Available People with mood disorders often have disruptions in their circadian rhythms. Recent molecular genetics has linked circadian clock genes to mood disorders. Our objective was to study two core circadian clock genes, CRY1 and CRY2 as well as TTC1 that interacts with CRY2, in relation to depressive and anxiety disorders. Of these three genes, 48 single-nucleotide polymorphisms (SNPs whose selection was based on the linkage disequilibrium and potential functionality were genotyped in 5910 individuals from a nationwide population-based sample. The diagnoses of major depressive disorder, dysthymia and anxiety disorders were assessed with a structured interview (M-CIDI. In addition, the participants filled in self-report questionnaires on depressive and anxiety symptoms. Logistic and linear regression models were used to analyze the associations of the SNPs with the phenotypes. Four CRY2 genetic variants (rs10838524, rs7121611, rs7945565, rs1401419 associated significantly with dysthymia (false discovery rate q<0.05. This finding together with earlier CRY2 associations with winter depression and with bipolar type 1 disorder supports the view that CRY2 gene has a role in mood disorders.

  12. Variant Carvajal syndrome with additional dental anomalies.

    Science.gov (United States)

    Barber, Sophy; Day, Peter; Judge, Mary; Toole, Edell O'; Fayle, Stephen

    2012-09-01

    This paper aims to review the case of a girl who presented with a number of dental anomalies, in addition to unusual skin, nail and hair conditions. Tragically an undiagnosed cardiomyopathy caused unexpected sudden death. The case is discussed with reference to a number of dermatological and oral conditions which were considered as possible diagnoses. AW had been under long term dental care for prepubertal periodontitis, premature root resorption of primary teeth, soft tissue and dental anomalies, and angular cheilitis. Separately she had also been seen by several dermatologists with respect to palmar plantar keratosis, striae keratoderma, wiry hair and abnormal finger nails. Tragically the patient suffered a sudden unexpected death and the subsequent post mortem identified an undiagnosed dilated cardiomyopathy. The most likely diagnosis is that this case is a variant of Carvajal Syndrome with additional dental anomalies. To date we have been unable to identify mutations in the desoplakin gene. We aim to emphasise the importance of recognising these dental and dermatological signs when they present together as a potential risk factor for cardiac abnormalities. © 2012 The Authors. International Journal of Paediatric Dentistry © 2012 BSPD, IAPD and Blackwell Publishing Ltd.

  13. 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.

  14. Assessment of Genetic Fidelity in <em>Rauvolfia em>s>erpentina em>Plantlets Grown from Synthetic (Encapsulated Seeds Following <em>in Vitroem> Storage at 4 °C

    Directory of Open Access Journals (Sweden)

    Mohammad Anis

    2012-05-01

    Full Text Available An efficient method was developed for plant regeneration and establishment from alginate encapsulated synthetic seeds of <em>Rauvolfia serpentinaem>. Synthetic seeds were produced using <em>in vitroem> proliferated microshoots upon complexation of 3% sodium alginate prepared in Llyod and McCown woody plant medium (WPM and 100 mM calcium chloride. Re-growth ability of encapsulated nodal segments was evaluated after storage at 4 °C for 0, 1, 2, 4, 6 and 8 weeks and compared with non-encapsulated buds. Effects of different media <em>viz>; Murashige and Skoog medium; Lloyd and McCown woody Plant medium, Gamborg’s B5 medium and Schenk and Hildebrandt medium was also investigated for conversion into plantlets. The maximum frequency of conversion into plantlets from encapsulated nodal segments stored at 4 °C for 4 weeks was achieved on woody plant medium supplement with 5.0 μM BA and 1.0 μM NAA. Rooting in plantlets was achieved in half-strength Murashige and Skoog liquid medium containing 0.5 μM indole-3-acetic acid (IAA on filter paper bridges. Plantlets obtained from stored synseeds were hardened, established successfully <em>ex vitroem> and were morphologically similar to each other as well as their mother plant. The genetic fidelity of <em>Rauvolfia em>clones raised from synthetic seeds following four weeks of storage at 4 °C were assessed by using random amplified polymorphic<em> em>DNA (RAPD and inter-simple sequence repeat<em> em>(ISSR markers. All the RAPD and ISSR profiles from generated plantlets were monomorphic and comparable<em> em>to the mother plant, which confirms the genetic<em> em>stability among the clones. This synseed protocol could be useful for establishing a particular system for conservation, short-term storage and production of genetically identical and stable plants before it is released for commercial purposes.

  15. The EM Earthquake Precursor

    Science.gov (United States)

    Jones, K. B., II; Saxton, P. T.

    2013-12-01

    Many attempts have been made to determine a sound forecasting method regarding earthquakes and warn the public in turn. Presently, the animal kingdom leads the precursor list alluding to a transmission related source. By applying the animal-based model to an electromagnetic (EM) wave model, various hypotheses were formed, but the most interesting one required the use of a magnetometer with a differing design and geometry. To date, numerous, high-end magnetometers have been in use in close proximity to fault zones for potential earthquake forecasting; however, something is still amiss. The problem still resides with what exactly is forecastable and the investigating direction of EM. After the 1989 Loma Prieta Earthquake, American earthquake investigators predetermined magnetometer use and a minimum earthquake magnitude necessary for EM detection. This action was set in motion, due to the extensive damage incurred and public outrage concerning earthquake forecasting; however, the magnetometers employed, grounded or buried, are completely subject to static and electric fields and have yet to correlate to an identifiable precursor. Secondly, there is neither a networked array for finding any epicentral locations, nor have there been any attempts to find even one. This methodology needs dismissal, because it is overly complicated, subject to continuous change, and provides no response time. As for the minimum magnitude threshold, which was set at M5, this is simply higher than what modern technological advances have gained. Detection can now be achieved at approximately M1, which greatly improves forecasting chances. A propagating precursor has now been detected in both the field and laboratory. Field antenna testing conducted outside the NE Texas town of Timpson in February, 2013, detected three strong EM sources along with numerous weaker signals. The antenna had mobility, and observations were noted for recurrence, duration, and frequency response. Next, two

  16. Human papillomavirus type-16 variants in Quechua aboriginals from Argentina.

    Science.gov (United States)

    Picconi, María Alejandra; Alonio, Lidia Virginia; Sichero, Laura; Mbayed, Viviana; Villa, Luisa Lina; Gronda, Jorge; Campos, Rodolfo; Teyssié, Angélica

    2003-04-01

    Cervical carcinoma is the leading cause of cancer death in Quechua indians from Jujuy (northwestern Argentina). To determine the prevalence of HPV-16 variants, 106 HPV-16 positive cervical samples were studied, including 33 low-grade squamous intraepithelial lesions (LSIL), 28 high-grade squamous intraepithelial lesions (HSIL), 9 invasive cervical cancer (ICC), and 36 samples from women with normal colposcopy and cytology. HPV genome variability was examined in the L1 and E6 genes by PCR-hybridization. In a subset of 20 samples, a LCR fragment was also analyzed by PCR-sequencing. Most variants belonged to the European branch with subtle differences that depended on the viral gene fragment studied. Only about 10% of the specimens had non-European variants, including eight Asian-American, two Asian, and one North-American-1. E6 gene analysis revealed that 43% of the samples were identical to HPV-16 prototype, while 57% corresponded to variants. Interestingly, the majority (87%) of normal smears had HPV-16 prototype, whereas variants were detected mainly in SIL and ICC. LCR sequencing yielded 80% of variants, including 69% of European, 19% Asian-American, and 12% Asian. We identified a new variant, the Argentine Quechua-51 (AQ-51), similar to B-14 plus two additional changes: G7842-->A and A7837-->C; phylogenetic inference allocated it in the Asian-American branch. The high proportion of European variants may reflect Spanish colonial influence on these native Inca descendants. The predominance of HPV-16 variants in pathologic samples when compared to normal controls could have implications for the natural history of cervical lesions. Copyright 2003 Wiley-Liss, Inc.

  17. A variational Bayes discrete mixture test for rare variant association.

    Science.gov (United States)

    Logsdon, Benjamin A; Dai, James Y; Auer, Paul L; Johnsen, Jill M; Ganesh, Santhi K; Smith, Nicholas L; Wilson, James G; Tracy, Russell P; Lange, Leslie A; Jiao, Shuo; Rich, Stephen S; Lettre, Guillaume; Carlson, Christopher S; Jackson, Rebecca D; O'Donnell, Christopher J; Wurfel, Mark M; Nickerson, Deborah A; Tang, Hua; Reiner, Alexander P; Kooperberg, Charles

    2014-01-01

    Recently, many statistical methods have been proposed to test for associations between rare genetic variants and complex traits. Most of these methods test for association by aggregating genetic variations within a predefined region, such as a gene. Although there is evidence that "aggregate" tests are more powerful than the single marker test, these tests generally ignore neutral variants and therefore are unable to identify specific variants driving the association with phenotype. We propose a novel aggregate rare-variant test that explicitly models a fraction of variants as neutral, tests associations at the gene-level, and infers the rare-variants driving the association. Simulations show that in the practical scenario where there are many variants within a given region of the genome with only a fraction causal our approach has greater power compared to other popular tests such as the Sequence Kernel Association Test (SKAT), the Weighted Sum Statistic (WSS), and the collapsing method of Morris and Zeggini (MZ). Our algorithm leverages a fast variational Bayes approximate inference methodology to scale to exome-wide analyses, a significant computational advantage over exact inference model selection methodologies. To demonstrate the efficacy of our methodology we test for associations between von Willebrand Factor (VWF) levels and VWF missense rare-variants imputed from the National Heart, Lung, and Blood Institute's Exome Sequencing project into 2,487 African Americans within the VWF gene. Our method suggests that a relatively small fraction (~10%) of the imputed rare missense variants within VWF are strongly associated with lower VWF levels in African Americans.

  18. Classe social: conceitos e esquemas operacionais em pesquisa em saude

    Directory of Open Access Journals (Sweden)

    Rita Barradas Barata

    2013-08-01

    Full Text Available Discute-se a utilização do conceito de classe em pesquisas em saúde, as diferentes abordagens sociológicas de estratificação social e de estrutura de classes, o potencial explicativo do conceito em estudos de determinação social e desigualdades em saúde, os modelos de operacionalização elaborados para uso em pesquisas sociológicas, demográficas ou de saúde e os limites e possibilidades desses modelos. Foram destacados quatro modelos de operacionalização: de Singer para estudo da distribuição de renda no Brasil, adaptado por Barros para uso em pesquisas epidemiológicas; de Bronfman & Tuirán para o censo demográfico mexicano, adaptado por Lombardi et al para pesquisas epidemiológicas; de Goldthorpe para estudos socioeconômicos ingleses, adaptado pela Sociedade Espanhola de Epidemiologia; e o modelo de Wright para pesquisa em sociologia e ciência política, também usado em inquéritos populacionais em saúde. Em conclusão, conceitualmente cada um dos modelos apresentados é coerente com a concepção teórica que os embasam, mas não há como optar por qualquer deles, descartando os demais.

  19. Efecto de extractos vegetales de <em>Polygonum hydropiperoidesem>, <em>Solanum nigrumem> y <em>Calliandra pittieriem> sobre el gusano cogollero (<em>Spodoptera frugiperdaem>

    Directory of Open Access Journals (Sweden)

    Lizarazo H. Karol

    2008-12-01

    Full Text Available

    El gusano cogollero <em>Spodoptera frugiperdaem> es una de las plagas que más afectan los cultivos en la región de Sumapaz (Cundinamarca, Colombia. En la actualidad se controla principalmente aplicando productos de síntesis química, sin embargo la aplicación de extractos vegetales surge como una alternativa de menor impacto sobre el ambiente. Este control se emplea debido a que las plantas contienen metabolitos secundarios que pueden inhibir el desarrollo de los insectos. Por tal motivo, la presente investigación evaluó el efecto insecticida y antialimentario de extractos vegetales de barbasco <em>Polygonum hydropiperoidesem> (Polygonaceae, carbonero <em>Calliandra pittieriem> (Mimosaceae y hierba mora <em>Solanum nigrumem> (Solanaceae sobre larvas de <em>S. frugiperdaem> biotipo maíz. Se estableció una cría masiva del insecto en el laboratorio utilizando una dieta natural con hojas de maíz. Posteriormente se obtuvieron extractos vegetales utilizando solventes de alta polaridad (agua y etanol y media polaridad (diclorometano los cuales se aplicaron sobre las larvas de segundo instar. Los resultados más destacados se presentaron con extractos de <em>P. hydropiperoidesem>, obtenidos con diclorometano en sus diferentes dosis, con los cuales se alcanzó una mortalidad de 100% 12 días después de la aplicación y un efecto antialimentario representado por un consumo de follaje de maíz inferior al 4%, efectos similares a los del testigo comercial (Clorpiriphos.

  20. 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

  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. 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. Chymotrypsi...... autolysis sites, cod variant B only contains a single autolysis site. The three-dimensional structures of the A- and B-variants of cod has been modelled on the known crystal structure of bovine alpha-chymotrypsin showing almost superimposable structures....

  3. 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...... been described in the literature, but the cardiorespiratory phenotype has not been reported. Our aim is to describe clinical and autonomic features of these girls. METHODS: 10 girls with CDKL5 mutations and a diagnosis of Hanefeld variant have been evaluated on axiological and clinical aspects. In all...

  4. Radioimmunological activity of 22K variant of human growth hormone

    International Nuclear Information System (INIS)

    Camillo, M.A.P.; Ribela, M.T.C.P.; Rogero, J.R.

    1986-01-01

    From a preparation of human growth hormone its integral variant (hGH-22K) was isolated by isoelectric focusing, having a pI of 5,20 and relative mobility (Rm) of 0,621 in the polyacrylamide gel electrophoresis. Several experiments for the characterization of the isolated variant were carried out. The immunological properties was tested by radioimmunoassay (RIE), in which the activity of the isolated variant and the activity of the total preparation were compared. The dose response-curves obtained by RIE were found to be considered parallels (p [pt

  5. Achados eletrocardiográficos em pacientes com doença renal crônica em hemodiálise

    Directory of Open Access Journals (Sweden)

    Luís Henrique Bignotto

    2012-09-01

    Full Text Available INTRODUÇÃO: A doença cardiovascular é a principal causa de mortalidade de pacientes em hemodiálise. Quando consideradas todas as causas de morte, aproximadamente 30% são classificadas como parada cardíaca, morte de causa desconhecida ou arritmia cardíaca. O prolongamento do tempo de despolarização e repolarização ventriculares, medido pela aferição do intervalo QT no eletrocardiograma de repouso, tem emergido como preditor de arritmias ventriculares complexas, uma importante causa de morte súbita cardíaca. OBJETIVOS: Determinar as alterações eletrocardiográficas presentes em pacientes sob hemodiálise (HD, aferir o intervalo QT e sua relação com variáveis clínicas e laboratoriais. MÉTODOS: Pacientes com idade acima de 18 anos em programa de hemodiálise foram abordados para participarem do estudo, e após anuência, foram submetidos ao exame de eletrocardiograma de 12 derivações. Dados clínicos foram revisados para avaliar a presença de comorbidades, além da aferição de medidas antropométricas e da pressão arterial. Amostras de sangue foram coletadas para determinação da hemoglobina e níveis séricos de cálcio, fósforo e de potássio. RESULTADOS: Cento e setenta e nove pacientes foram incluídos no estudo. A maioria era do sexo masculino (64,8% e da raça branca (54,7%; a idade média foi de 58,5 ± 14,7 anos. Aproximadamente 50% dos pacientes apresentaram ao menos um distúrbio de condução elétrica. Cerca de 50% apresentaram prolongamento do intervalo QTc e experimentaram aumento significativo na frequência de hipertrofia ventricular esquerda (HVE, alterações do ritmo cardíaco, bloqueios de ramo e mais baixos índices de massa corporal (IMC, quando comparados aos pacientes com intervalo QTc normal. CONCLUSÕES: Pacientes com doença renal crônica (DRC em hemodiálise apresentam elevada frequência de achados eletrocardiográficos anormais, incluindo alta prevalência de pacientes com intervalo QTc

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

    Directory of Open Access Journals (Sweden)

    Khan, Richard Lester

    2009-01-01

    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

  7. Poesia em Revista: Oroboro

    Directory of Open Access Journals (Sweden)

    Helena Alves Gouveia

    2008-10-01

    Full Text Available http://dx.doi.org/10.5007/1984-784x.2008v8n12p38 A serpente que engole a si mesma é uma figura curiosa do simbolismo de um processo de contínua transformação, de um movimento circular incessante, rumo à infinitude, sem traços de fim ou começo. Oroboro é um nome de origem grega que remete a esta serpente que se morde e penetra em si mesma ao engolir o próprio rabo. Mas também é o nome da revista de cultura editada em Curitiba pelos artistas-editores Ricardo Corona e Eliana Borges.

  8. Hipervitaminose D em animais

    Directory of Open Access Journals (Sweden)

    Paulo V. Peixoto

    2012-07-01

    Full Text Available Por meio de revisão da literatura, são apresentados dados referentes ao metabolismo da vitamina D, bem como aos principais aspectos toxicológicos, clínicos, bioquímicos, macroscópicos, microscópicos, ultraestruturais, imuno-histoquímicos e radiográficos de animais intoxicados natural e experimentalmente por essa vitamina, em diferentes espécies. Este estudo objetiva demonstrar a existência de muitas lacunas no conhecimento sobre mineralização fisiológica e patológica, em especial na mediação hormonal do fenômeno, bem como alertar para os riscos de ocorrência dessa intoxicação.

  9. A democracia em Cuba

    OpenAIRE

    Zaldívar, Julio César Guanche

    2011-01-01

    O triunfo revolucionário de 1959 consagrou em Cuba um novo conceito de democracia, com o intuito de garantir o acesso à vida política ativa de grandes setores da população, antes excluídos. Para isso, foi desenvolvida uma política de inclusão social com caráter universal. A prática política popular deixou as riquezas do país em mãos da população carente e gerou uma grande mobilidade social, fato que foi central para o aumento da participação popular. O contexto de agressão imperialista e o pr...

  10. Tuberculose Infantil em Portugal

    OpenAIRE

    Carapau, João

    2014-01-01

    Dos números recentemente publicados pela Direcção Geral da Saúde / Núcleo de Tuberculose e Doenças Respiratórias relativos aos anos de 1992 e 1993 e pelo Instituto Nacional de Estatística relativos a 1994, conclui-se que os casos de Tuberculose (TB) notificados pouco têm decrescido nos últimos 15 anos: descida média anual de 6,3% para os casos em geral e 14% para os menores de 15 anos; a taxa global de incidência apurada em 1994 voltou a subir — 51,1 (52,4 no Continente). Para o autor a me...

  11. Universidade em ruinas?

    OpenAIRE

    Katuta, Ângela Massumi; UEL/CCE/Departamento de Geociências

    2010-01-01

    A Universidade, desde as suas origens no século XII, sempre esteve atrelada a instituições e setores hegemônicos da sociedade. Segundo Trindade (2000), a sua “invenção” ocorreu em plena Idade Média na Europa, sob a proteção da Igreja romana, sendo que as Universidades de Bolonha (1108) e Paris (1211) foram as primeiras a serem criadas 

  12. 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

  13. 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

  14. Adult schizophrenic-like variant of adrenoleukodystrophy.

    Science.gov (United States)

    Szpak, G M; Lewandowska, E; Schmidt-Sidor, B; Popow, J; Kozłowski, P; Lechowicz, W; Kulczycki, J; Zaremba, J; Dymecki, J

    1996-01-01

    A 35-year-old man died after 30 months following the onset of the disease. There was a history of changes in his mental condition, including disturbances of behavior as well as the evidence of progressing dementia. The patient revealed gait disturbances and finally became bed ridden. Bizarre behavior and changes of mood with concurrent growing irritability which predominated during the course of disease, may explain the initial diagnosis of schizophrenia. Then cerebellar and spastic movement disorders leading to paraparesis and sphincters disturbances developed. Clinical symptoms of adrenal failure were not found apart from episodes of arterial pressure fall. After two years a magnetic resonance imaging (MRI) revealed an extensive diffuse demyelinative process in white matter of cerebral and cerebellar hemispheres. Activity of lysosomal enzymes was normal. A general autopsy revealed atrophy of adrenal cortex and the presence of ballooned cells with striated cytoplasm in the reticular and fasciculate zones. Neuropathological examination revealed an extensive demyelination of white matter in cerebral and cerebellar hemispheres and of the long paths of the brain stem, corresponding to changes in MRI examination. Within demyelination areas damage of axons and diffuse cellular and fibrous gliosis were found as well as perivascular lymphocytic infiltrations with the presence of strong PAS (+) and Sudan (+) macrophages. Immunocytochemical reactions with HAM-56 and RCA1 in macrophages were positive. Electron microscopy examination revealed lamellar inclusions in cytoplasm of macrophages. Similar structures were present in the lysosomes of astrocytes. Morphological examination of adrenal glands as well as morphological and ultrastructural study of the brain allowed us to diagnose the cerebral form of adrenoleukodystrophy (ALD). Topography and character of the brain changes seems to be in keeping with a rare schizophrenic-like variant of ALD with progressive dementia

  15. 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

    Directory of Open Access Journals (Sweden)

    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.

  16. Rapid Development of Microsatellite Markers with 454 Pyrosequencing in a Vulnerable Fish<em>,> the Mottled Skate<em>, Raja em>pulchra>

    Directory of Open Access Journals (Sweden)

    Jung-Ha Kang

    2012-06-01

    Full Text Available The mottled skate, <em>Raja pulchraem>, is an economically valuable fish. However, due to a severe population decline, it is listed as a vulnerable species by the International Union for Conservation of Nature. To analyze its genetic structure and diversity, microsatellite markers were developed using 454 pyrosequencing. A total of 17,033 reads containing dinucleotide microsatellite repeat units (mean, 487 base pairs were identified from 453,549 reads. Among 32 loci containing more than nine repeat units, 20 primer sets (62% produced strong PCR products, of which 14 were polymorphic. In an analysis of 60 individuals from two <em>R. pulchra em>populations, the number of alleles per locus ranged from 1–10, and the mean allelic richness was 4.7. No linkage disequilibrium was found between any pair of loci, indicating that the markers were independent. The Hardy–Weinberg equilibrium test showed significant deviation in two of the 28 single-loci after sequential Bonferroni’s correction. Using 11 primer sets, cross-species amplification was demonstrated in nine related species from four families within two classes. Among the 11 loci amplified from three other <em>Rajidae> family species; three loci were polymorphic. A monomorphic locus was amplified in all three <em>Rajidae> family species and the <em>Dasyatidae> family. Two <em>Rajidae> polymorphic loci amplified monomorphic target DNAs in four species belonging to the Carcharhiniformes class, and another was polymorphic in two Carcharhiniformes species.

  17. 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.

  18. Behavioral variant of frontotemporal dementia mimicking Huntington's disease

    DEFF Research Database (Denmark)

    Nielsen, T Rune; Bruhn, Peter; Nielsen, Jørgen E

    2010-01-01

    Behavioral changes and cognitive decline are the core clinical manifestations in the behavioral variant of frontotemporal dementia (bv-FTD). The behavioral changes may include characteristic stereotypic movements. These movements, although without clear purpose, are not involuntary. Involuntary...

  19. 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.

  20. 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

  1. Efficient population-scale variant analysis and prioritization with VAPr.

    Science.gov (United States)

    Birmingham, Amanda; Mark, Adam M; Mazzaferro, Carlo; Xu, Guorong; Fisch, Kathleen M

    2018-04-06

    With the growing availability of population-scale whole-exome and whole-genome sequencing, demand for reproducible, scalable variant analysis has spread within genomic research communities. To address this need, we introduce the Python package VAPr (Variant Analysis and Prioritization). VAPr leverages existing annotation tools ANNOVAR and MyVariant.info with MongoDB-based flexible storage and filtering functionality. It offers biologists and bioinformatics generalists easy-to-use and scalable analysis and prioritization of genomic variants from large cohort studies. VAPr is developed in Python and is available for free use and extension under the MIT License. An install package is available on PyPi at https://pypi.python.org/pypi/VAPr, while source code and extensive documentation are on GitHub at https://github.com/ucsd-ccbb/VAPr. kfisch@ucsd.edu.

  2. Genetic variants influencing lipid levels and risk of dyslipidemia in ...

    Indian Academy of Sciences (India)

    HUAICHAO LUO

    2017-12-18

    Dec 18, 2017 ... total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C) and triglycerides. (TG) in 1900 ... in Chinese population, especially relationship between these genetic variants ...

  3. 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 ...

  4. 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.

  5. 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

  6. Characterization of Canine parvovirus 2 variants circulating in Greece.

    Science.gov (United States)

    Ntafis, Vasileios; Xylouri, Eftychia; Kalli, Iris; Desario, Costantina; Mari, Viviana; Decaro, Nicola; Buonavoglia, Canio

    2010-09-01

    The aim of the present study was to characterize Canine parvovirus 2 (CPV-2) variants currently circulating in Greece. Between March 2008 and March 2009, 167 fecal samples were collected from diarrheic dogs from different regions of Greece. Canine parvovirus 2 was detected by standard polymerase chain reaction, whereas minor groove binder probe assays were used to distinguish genetic variants and discriminate between vaccine and field strains. Of 84 CPV-2-positive samples, 81 CPV-2a, 1 CPV-2b, and 2 CPV-2c were detected. Vaccine strains were not detected in any sample. Sequence analysis of the VP2 gene of the 2 CPV-2c viruses revealed up to 100% amino acid identity with the CPV-2c strains previously detected in Europe. The results indicated that, unlike other European countries, CPV-2a remains the most common variant in Greece, and that the CPV-2c variant found in Europe is also present in Greece.

  7. COMPARISON OF THE TEST VARIANTS IN ENTRANCE EXAMINATIONS

    Directory of Open Access Journals (Sweden)

    KLŮFA, Jindřich

    2016-12-01

    Full Text Available The paper contains an analysis of the differences of number of points in the test in mathematics between test variants, which were used in the entrance examinations at the Faculty of Business Administration at University of Economics in Prague in 2015. The differences may arise due to the varying difficulty of variants for students, but also because of the different level of knowledge of students who write these variants. This problem we shall study in present paper. The aim of this paper is to study dependence of the results of entrance examinations in mathematics on test variants. The results obtained will be used for further improvement of the admission process at University of Economics.

  8. Reversion in variants from a duplication strain of Aspergillus nidulans

    International Nuclear Information System (INIS)

    Menezes, E.M.; Azevedo, J.L.

    1978-01-01

    Strains of Aspergillus nidulans with a chromosome segment in duplicate, one in normal position and one translocated to another chromosome, are unstable at mitosis. In addition to variants which result from deletions in either of the duplicate segments, which usually have improved morphology, they produce variants with deteriorated morphology. Three deteriorated variants reverted frequently to parental type morphology, both spontaneously and after ultra-violet treatment. Of six reversions analysed genetically, five were due to suppressors and one was probably due to back mutation. The suppressors segregated as single genes and were not linked to the mutation which they suppress. The instability of these so-called 'deteriorated' variants is discussed in relation to mitotic instability phenomena in A. nidulans. (orig.) [de

  9. Acarofauna em plantas ornamentais

    Directory of Open Access Journals (Sweden)

    Jania Claudia Camilo dos Santos

    2014-10-01

    Full Text Available Normal 0 21 false false false PT-BR X-NONE X-NONE O cultivo e o comercio de plantas ornamentais vem cada vez mais ganhando espaço no Brasil, pela grande variedade das espécies existentes e exuberância de suas flores, que oferecem uma maior riqueza ao local. Dessa forma, o objetivo desse trabalho foi realizar o levantamento da população de ácaros associados às plantas ornamentais no município de Arapiraca-AL, em função dos diversos problemas acarretados por essa espécie. O levantamento foi realizado entre os meses de abril a março, através de amostragens mensais de folhas coletadas da parte basal, intermediária e apical de plantas existentes em praças e jardins. Foram coletados 55 ácaros pertencentes à ordem Prostigmata em 20 famílias de plantas. As plantas com as maiores riquezas de ácaros foram as Coleus blumei L. e Bxuxus sempervirens L., que apresentaram 65% dos valores amostrais. Analisando-se as coletas realizadas, pode-se observar que houve uma maior incidência populacional de ácaros na coleta do mês de maio, cuja percentagem foi de 36% de ácaros levantados, sendo que no levantamento dos dados amostrais de março a percentagem encontrada foi de 14%, nas amostragens dos meses de abril e junho, a percentagem amostrada dos dados foi de 22 e 28%, respectivamente. O estudo do levantamento de ácaros em plantas ornamentais permitiu observar a relação entre ácaros e a relação com a planta hospedeira, facilitando posteriormente um estudo mais aprofundado sobre plantas hospedeiras, e pode-se observar que em períodos chuvosos ocorre uma menor incidência populacional.

  10. Protein variants in Hiroshima and Nagasaki: tales of two cities.

    Science.gov (United States)

    Neel, J V; Satoh, C; Smouse, P; Asakawa, J; Takahashi, N; Goriki, K; Fujita, M; Kageoka, T; Hazama, R

    1988-12-01

    The results of 1,465,423 allele product determinations based on blood samples from Hiroshima and Nagasaki, involving 30 different proteins representing 32 different gene products, are analyzed in a variety of ways, with the following conclusions: (1) Sibships and their parents are included in the sample. Our analysis reveals that statistical procedures designed to reduce the sample to equivalent independent genomes do not in population comparisons compensate for the familial cluster effect of rare variants. Accordingly, the data set was reduced to one representative of each sibship (937,427 allele products). (2) Both chi 2-type contrasts and a genetic distance measure (delta) reveal that rare variants (P less than .01) are collectively as effective as polymorphisms in establishing genetic differences between the two cities. (3) We suggest that rare variants that individually exhibit significant intercity differences are probably the legacy of tribal private polymorphisms that occurred during prehistoric times. (4) Despite the great differences in the known histories of the two cities, both the overall frequency of rare variants and the number of different rare variants are essentially identical in the two cities. (5) The well-known differences in locus variability are confirmed, now after adjustment for sample size differences for the various locus products; in this large series we failed to detect variants at only three of 29 loci for which sample size exceeded 23,000. (6) The number of alleles identified per locus correlates positively with subunit molecular weight. (7) Loci supporting genetic polymorphisms are characterized by more rare variants than are loci at which polymorphisms were not encountered. (8) Loci whose products do not appear to be essential for health support more variants than do loci the absence of whose product is detrimental to health. (9) There is a striking excess of rare variants over the expectation under the neutral mutation

  11. Family studies to find rare high risk variants in migraine.

    Science.gov (United States)

    Hansen, Rikke Dyhr; Christensen, Anne Francke; Olesen, Jes

    2017-12-01

    Migraine has long been known as a common complex disease caused by genetic and environmental factors. The pathophysiology and the specific genetic susceptibility are poorly understood. Common variants only explain a small part of the heritability of migraine. It is thought that rare genetic variants with bigger effect size may be involved in the disease. Since migraine has a tendency to cluster in families, a family approach might be the way to find these variants. This is also indicated by identification of migraine-associated loci in classical linkage-analyses in migraine families. A single migraine study using a candidate-gene approach was performed in 2010 identifying a rare mutation in the TRESK potassium channel segregating in a large family with migraine with aura, but this finding has later become questioned. The technologies of next-generation sequencing (NGS) now provides an affordable tool to investigate the genetic variation in the entire exome or genome. The family-based study design using NGS is described in this paper. We also review family studies using NGS that have been successful in finding rare variants in other common complex diseases in order to argue the promising application of a family approach to migraine. PubMed was searched to find studies that looked for rare genetic variants in common complex diseases through a family-based design using NGS, excluding studies looking for de-novo mutations, or using a candidate-gene approach and studies on cancer. All issues from Nature Genetics and PLOS genetics 2014, 2015 and 2016 (UTAI June) were screened for relevant papers. Reference lists from included and other relevant papers were also searched. For the description of the family-based study design using NGS an in-house protocol was used. Thirty-two successful studies, which covered 16 different common complex diseases, were included in this paper. We also found a single migraine study. Twenty-three studies found one or a few family specific

  12. Variants at the 9p21 locus and melanoma risk

    International Nuclear Information System (INIS)

    Maccioni, Livia; Rachakonda, Panduranga Sivaramakrishna; Bermejo, Justo Lorenzo; Planelles, Dolores; Requena, Celia; Hemminki, Kari; Nagore, Eduardo; Kumar, Rajiv

    2013-01-01

    The influence of variants at the 9p21 locus on melanoma risk has been reported through investigation of CDKN2A variants through candidate gene approach as well as by genome wide association studies (GWAS). In the present study we genotyped, 25 SNPs that tag 273 variants on chromosome 9p21 in 837 melanoma cases and 1154 controls from Spain. Ten SNPs were selected based on previous associations, reported in GWAS, with either melanocytic nevi or melanoma risk or both. The other 15 SNPs were selected to fine map the CDKN2A gene region. All the 10 variants selected from the GWAS showed statistically significant association with melanoma risk. Statistically significant association with melanoma risk was also observed for the carriers of the variant T-allele of rs3088440 (540 C>T) at the 3’ UTR of CDKN2A gene with an OR 1.52 (95% CI 1.14-2.04). Interaction analysis between risk associated polymorphisms and previously genotyped MC1R variants, in the present study, did not show any statistically significant association. Statistical significant association was observed for the interaction between phototypes and the rs10811629 (located in intron 5 of MTAP). The strongest association was observed between the homozygous carrier of the A–allele and phototype II with an OR of 15.93 (95% CI 5.34-47.54). Our data confirmed the association of different variants at chromosome 9p21 with melanoma risk and we also found an association of a variant with skin phototypes

  13. Evaluating how variants of floristic quality assessment indicate wetland condition.

    Science.gov (United States)

    Kutcher, Thomas E; Forrester, Graham E

    2018-03-28

    Biological indicators are useful tools for the assessment of ecosystem condition. Multi-metric and multi-taxa indicators may respond to a broader range of disturbances than simpler indicators, but their complexity can make them difficult to interpret, which is critical to indicator utility for ecosystem management. Floristic Quality Assessment (FQA) is an example of a biological assessment approach that has been widely tested for indicating freshwater wetland condition, but less attention has been given to clarifying the factors controlling its response. FQA quantifies the aggregate of vascular plant species tolerance to habitat degradation (conservatism), and model variants have incorporated species richness, abundance, and indigenity (native or non-native). To assess bias, we tested FQA variants in open-canopy freshwater wetlands against three independent reference measures, using practical vegetation sampling methods. FQA variants incorporating species richness did not correlate with our reference measures and were influenced by wetland size and hydrogeomorphic class. In contrast, FQA variants lacking measures of species richness responded linearly to reference measures quantifying individual and aggregate stresses, suggesting a broad response to cumulative degradation. FQA variants incorporating non-native species, and a variant additionally incorporating relative species abundance, improved performance over using only native species. We relate our empirical findings to ecological theory to clarify the functional properties and implications of the FQA variants. Our analysis indicates that (1) aggregate conservatism reliably declines with increased disturbance; (2) species richness has varying relationships with disturbance and increases with site area, confounding FQA response; and (3) non-native species signal human disturbance. We propose that incorporating species abundance can improve FQA site-level relevance with little extra sampling effort. Using our

  14. Functional significance of SPINK1 promoter variants in chronic pancreatitis.

    Science.gov (United States)

    Derikx, Monique H M; Geisz, Andrea; Kereszturi, Éva; Sahin-Tóth, Miklós

    2015-05-01

    Chronic pancreatitis is a progressive inflammatory disorder of the pancreas, which often develops as a result of genetic predisposition. Some of the most frequently identified risk factors affect the serine protease inhibitor Kazal type 1 (SPINK1) gene, which encodes a trypsin inhibitor responsible for protecting the pancreas from premature trypsinogen activation. Recent genetic and functional studies indicated that promoter variants in the SPINK1 gene might contribute to disease risk in carriers. Here, we investigated the functional effects of 17 SPINK1 promoter variants using luciferase reporter gene expression assay in four different cell lines, including three pancreatic acinar cell lines (rat AR42J with or without dexamethasone-induced differentiation and mouse 266-6) and human embryonic kidney 293T cells. We found that most variants caused relatively small changes in promoter activity. Surprisingly, however, we observed significant variations in the effects of the promoter variants in the different cell lines. Only four variants exhibited consistently reduced promoter activity in all acinar cell lines, confirming previous reports that variants c.-108G>T, c.-142T>C, and c.-147A>G are risk factors for chronic pancreatitis and identifying c.-52G>T as a novel risk variant. In contrast, variant c.-215G>A, which is linked with the disease-associated splice-site mutation c.194 + 2T>C, caused increased promoter activity, which may mitigate the overall effect of the pathogenic haplotype. Our study lends further support to the notion that sequence evaluation of the SPINK1 promoter region in patients with chronic pancreatitis is justified as part of the etiological investigation. Copyright © 2015 the American Physiological Society.

  15. Mouse ribosomal RNA genes contain multiple differentially regulated variants.

    Directory of Open Access Journals (Sweden)

    Hung Tseng

    2008-03-01

    Full Text Available Previous cytogenetic studies suggest that various rDNA chromosomal loci are not equally active in different cell types. Consistent with this variability, rDNA polymorphism is well documented in human and mouse. However, attempts to identify molecularly rDNA variant types, which are regulated individually (i.e., independent of other rDNA variants and tissue-specifically, have not been successful. We report here the molecular cloning and characterization of seven mouse rDNA variants (v-rDNA. The identification of these v-rDNAs was based on restriction fragment length polymorphisms (RFLPs, which are conserved among individuals and mouse strains. The total copy number of the identified variants is less than 100 and the copy number of each individual variant ranges from 4 to 15. Sequence analysis of the cloned v-rDNA identified variant-specific single nucleotide polymorphisms (SNPs in the transcribed region. These SNPs were used to develop a set of variant-specific PCR assays, which permitted analysis of the v-rDNAs' expression profiles in various tissues. These profiles show that three v-rDNAs are expressed in all tissues (constitutively active, two are expressed in some tissues (selectively active, and two are not expressed (silent. These expression profiles were observed in six individuals from three mouse strains, suggesting the pattern is not randomly determined. Thus, the mouse rDNA array likely consists of genetically distinct variants, and some are regulated tissue-specifically. Our results provide the first molecular evidence for cell-type-specific regulation of a subset of rDNA.

  16. Identifying structural variants using linked-read sequencing data.

    Science.gov (United States)

    Elyanow, Rebecca; Wu, Hsin-Ta; Raphael, Benjamin J

    2017-11-03

    Structural variation, including large deletions, duplications, inversions, translocations, and other rearrangements, is common in human and cancer genomes. A number of methods have been developed to identify structural variants from Illumina short-read sequencing data. However, reliable identification of structural variants remains challenging because many variants have breakpoints in repetitive regions of the genome and thus are difficult to identify with short reads. The recently developed linked-read sequencing technology from 10X Genomics combines a novel barcoding strategy with Illumina sequencing. This technology labels all reads that originate from a small number (~5-10) DNA molecules ~50Kbp in length with the same molecular barcode. These barcoded reads contain long-range sequence information that is advantageous for identification of structural variants. We present Novel Adjacency Identification with Barcoded Reads (NAIBR), an algorithm to identify structural variants in linked-read sequencing data. NAIBR predicts novel adjacencies in a individual genome resulting from structural variants using a probabilistic model that combines multiple signals in barcoded reads. We show that NAIBR outperforms several existing methods for structural variant identification - including two recent methods that also analyze linked-reads - on simulated sequencing data and 10X whole-genome sequencing data from the NA12878 human genome and the HCC1954 breast cancer cell line. Several of the novel somatic structural variants identified in HCC1954 overlap known cancer genes. Software is available at compbio.cs.brown.edu/software. braphael@princeton.edu. Supplementary data are available at Bioinformatics online. © The Author (2017). Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com

  17. [Approach to diagnosis and management of myeloproliferative neoplasm variants].

    Science.gov (United States)

    Mitsumori, Toru; Kirito, Keita

    2015-08-01

    Myeloproliferative neoplasm (MPN) variants are defined as relatively uncommon myeloid neoplasms which do not meet the criteria for either classical MPN or myelodysplastic syndrome. Due to the lack of specific markers, it has been challenging to accurately diagnose these malignant diseases. Recent studies have revealed new genetic abnormalities in MPN variants. These research advances are anticipated to open new approaches to not only achieving accurate diagnosis but also novel therapeutic options for these diseases.

  18. Physiological responses of pirarucu (Arapaima gigas to acute handling stress Resposta fisiológica de estresse em pirarucu (Arapaima gigas submetido ao manuseio

    Directory of Open Access Journals (Sweden)

    Levy de Carvalho Gomes

    2007-01-01

    Full Text Available Pirarucu (Arapaima gigas is an obligatory air-breathing fish from the Amazon basin. Previous study showed that pirarucu juveniles present a latency period in their response to moderate stress (transportation. Therefore the objective of this study was to verify the effects of a prolonged air exposure stress in lactate, glucose, cortisol, haematocrit, haemoglobin, and liver glycogen in pirarucu. Thirty-six fish were handled by netting and subjected to air exposure for 75-min. Six fish were sampled before handling and at 0, 6, 24, 48, and 96h after handling. Fish cortisol, lactate and haematocrit rose after handling, returning to previous unstressed values on the following sampling (6h after handling. Glucose increased significantly after handling and that was maintained for 24 h. There were no changes in haemoglobin and liver glycogen as a consequence of handling. The results demonstrate a quick response when exposed to an acute stressor and a fast recovery, suggesting that pirarucu does not use their glycogen reserves during an acute stress. The results suggest that pirarucu exhibit physiological stress responses to handling similar in magnitude to those previously documented for many teleostean fishes, including salmonids.O pirarucu (Arapaima gigas é um peixe de respiração aérea obrigatória da bacia Amazônica. Estudo prévio demonstrou que juvenis de pirarucu apresentam um período de latência em sua resposta de estresse a um estresse moderado (transporte. Desta forma, o objetivo deste estudo foi verificar os efeitos de uma exposição aérea prolongada no lactato, glicose, cortisol, hematócrito, hemoglobina e glicogênio do fígado em pirarucu. Trinta e seis peixes foram manuseados com um puçá e expostos ao ar por 75-min. Seis peixes foram amostrados antes do manuseio e 0, 6, 24, 48, e 96h após o manuseio. O cortisol, lactato e hematócrito aumentaram após o manuseio, retornando para valores semelhantes ao de antes do manuseio na

  19. Electrophoretic variants of blood proteins in japanese, 5

    International Nuclear Information System (INIS)

    Fujita, Mikio; Satoh, Chiyoko; Asakawa, Jun-ichi; Nagahata, Yuko; Tanaka, Yoshiko; Hazama, Ryuji; Goriki, Kazuaki.

    1985-08-01

    The plasma ceruloplasmin (CP) of 22,367 children of atomic bomb survivors in Hiroshima and Nagasaki was examined for variants by electrophoresis. The sample was composed of 14,964 unrelated children and 7,403 siblings of the unrelated persons. A total of seven types of electrophoretic variants were detected; four migrating anodally and three cathodally to the normal B band. We have reported two of these variants, CP A sub(NG1) and CP C sub(NG1), previously but the other five, CP A sub(NG2), CP A sub(HR1), CP A sub(HR2), CP C sub(HR1), and CP C sub(HR2), are newly identified. The allelic frequency of CP*CNG1 was 0.00916, so that the variant is considered to be a polymorphic allele. Homozygosity for the CP*CNG1 allele was detected in five individuals. This is the first report of a homozygous phenotype for a CP variant in a Japanese population. Family study of the new five variants all demonstrated patterns of codominant inheritance. (author)

  20. [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.

  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. Transfusão de hemácias em terapia intensiva: controvérsias entre evidências Red blood cell transfusion in the intensive care setting: controversies amongst evidence

    Directory of Open Access Journals (Sweden)

    Rubens Carmo Costa Filho

    2009-08-01

    com hemoglobina superiores a 7 g/dL. Não existe um consenso sobre o limiar transfusional em pacientes críticos. Os pacientes com doença cardiovascular parecem apresentar um maior risco de morte do que aqueles sem doença cardiovascular, para qualquer nível de hemoglobina. A transfusão guiada por níveis de hemoglobina e parâmetros fisiológicos, oxi-hemodinâmicos individualizados e contexto clínico parece ser atualmente estratégia mais aceita do que a correção arbitrária e isolada da hemoglobina.Anemia is a prevalent issue in intensive care units. It appears in the first days, and may continue or worsen during hospital stay. Its etiology is generally multifactorial. Red blood cell transfusion is the most common intervention for treating anemia. Approximately 12 million blood units are used for transfusions in the United States, 25% to 30% in the intensive care units. Due to reduction of transfusion infections the increased safety has allowed an expansion of clinical indications. However, transfusion therapy is associated with other adverse effects such as nosocomial infections, immunological impairment, lung injury, hemolytic reactions and higher cancer incidence. Various papers have tried to show an association between correction of anemia and mortality-morbidity, but no consensus has been reached in literature. One of the current World Health Organization's proposals is to reduce potentially unnecessary transfusions, promoting a rational transfusion attitude. The primary objective of this narrative review is to approach controversies regarding the transfusion threshold according to recent studies, and as a secondary objective, it aims to discuss iatrogenic anemia aspects and the different behaviors among intensivists on the best practices for implementation of transfusion practices. It is not within our objectives to discuss transfusion complications, although they are mentioned. A search was conducted on electronic literature databases (Pub

  3. Forward Genetics by Sequencing EMS Variation-Induced Inbred Lines

    Directory of Open Access Journals (Sweden)

    Charles Addo-Quaye

    2017-02-01

    Full Text Available In order to leverage novel sequencing techniques for cloning genes in eukaryotic organisms with complex genomes, the false positive rate of variant discovery must be controlled for by experimental design and informatics. We sequenced five lines from three pedigrees of ethyl methanesulfonate (EMS-mutagenized Sorghum bicolor, including a pedigree segregating a recessive dwarf mutant. Comparing the sequences of the lines, we were able to identify and eliminate error-prone positions. One genomic region contained EMS mutant alleles in dwarfs that were homozygous reference sequences in wild-type siblings and heterozygous in segregating families. This region contained a single nonsynonymous change that cosegregated with dwarfism in a validation population and caused a premature stop codon in the Sorghum ortholog encoding the gibberellic acid (GA biosynthetic enzyme ent-kaurene oxidase. Application of exogenous GA rescued the mutant phenotype. Our method for mapping did not require outcrossing and introduced no segregation variance. This enables work when line crossing is complicated by life history, permitting gene discovery outside of genetic models. This inverts the historical approach of first using recombination to define a locus and then sequencing genes. Our formally identical approach first sequences all the genes and then seeks cosegregation with the trait. Mutagenized lines lacking obvious phenotypic alterations are available for an extension of this approach: mapping with a known marker set in a line that is phenotypically identical to starting material for EMS mutant generation.

  4. How <em>Varroa> Parasitism Affects the Immunological and Nutritional Status of the Honey Bee, <em>Apis melliferaem>

    Directory of Open Access Journals (Sweden)

    Katherine A. Aronstein

    2012-06-01

    Full Text Available We investigated the effect of the parasitic mite <em>Varroa destructorem> on the immunological and nutritional condition of honey bees, <em>Apis melliferaem>, from the perspective of the individual bee and the colony. Pupae, newly-emerged adults and foraging adults were sampled from honey bee colonies at one site in S. Texas, USA. <em>Varroa>‑infested bees displayed elevated titer of Deformed Wing Virus (DWV, suggestive of depressed capacity to limit viral replication. Expression of genes coding three anti-microbial peptides (<em>defensin1, abaecin, hymenoptaecinem> was either not significantly different between <em>Varroa>-infested and uninfested bees or was significantly elevated in <em>Varroa>-infested bees, varying with sampling date and bee developmental age. The effect of <em>Varroa> on nutritional indices of the bees was complex, with protein, triglyceride, glycogen and sugar levels strongly influenced by life-stage of the bee and individual colony. Protein content was depressed and free amino acid content elevated in <em>Varroa>-infested pupae, suggesting that protein synthesis, and consequently growth, may be limited in these insects. No simple relationship between the values of nutritional and immune-related indices was observed, and colony-scale effects were indicated by the reduced weight of pupae in colonies with high <em>Varroa> abundance, irrespective of whether the individual pupa bore <em>Varroa>.

  5. Fatores associados a anemia por deficiência de ferro em crianças pré-escolares brasileiras Factors associated with iron deficiency anemia in Brazilian preschool children

    Directory of Open Access Journals (Sweden)

    Carlos A. N. de Almeida

    2004-06-01

    Full Text Available OBJETIVO: Avaliar fatores determinantes de anemia e deficiência de ferro em crianças de duas creches da cidade de Pontal, sudeste do Brasil. MÉTODOS: Estudo transversal foi realizado avaliando-se 192 crianças com idades entre 12 e 72 meses. Dados pessoais (idade, sexo, uso de ferro medicamentoso, duração do aleitamento materno, tipo de parto, cuidados pré-natais, peso e estatura e dados socioeconômicos (número de co-habitantes, escolaridade dos pais e renda per capita familiar foram obtidos e correlacionados com hemoglobina, receptores de transferrina, ferritina e anemia ferropriva. RESULTADOS: A idade foi a variável mais afetada pelo estado nutricional de ferro, correlacionando-se com maiores valores de hemoglobina e ferritina e menores valores de receptor de transferrina, sendo que menos anemia ferropriva foi detectada quanto maior a idade. As outras variáveis estudadas não apresentaram correlação com o estado nutricional de ferro. CONCLUSÃO: Os dados sugerem que as estratégias de controle para essa população de crianças pré-escolares devem ser direcionadas especialmente para aquelas de menor idade.OBJECTIVE: To examine the determining factors of anemia and iron deficiency in children attending two day care centers in the town of Pontal, southeast of Brazil. METHODS: Cross-sectional study was conducted in 192 children aged 12 to 72 months. Personal data (age, sex, use of medicinal iron supplements, duration of breast-feeding, type of delivery, prenatal care, weight, and height, and socioeconomic data (number of co-inhabitants, parental schooling, and per capita family income were obtained and evaluated together with hemoglobin, serum transferrin receptor, ferritin, and iron deficiency anemia. RESULTS: Age was the variable that most affected iron nutritional status, with higher hemoglobin values, lower transferrin receptor concentrations, higher ferritin values and lower iron deficiency anemia being detected with increasing

  6. Synthesis and Spectroscopic Analysis of Novel 1<em>H-Benzo[d>]imidazoles Phenyl Sulfonylpiperazines

    Directory of Open Access Journals (Sweden)

    Amjad M. Qandil

    2012-05-01

    Full Text Available A group of benzimidazole analogs of sildenafil, 3-benzimidazolyl-4-methoxy-phenylsulfonylpiperazines 2–4 and 3-benzimidazolyl-4-methoxy-<em>N,N>-dimethyl- benzenesulfonamide (5, were efficiently synthesized. Compounds 2–5 were characterized by NMR and MS and contrary to the reported mass spectra of sildenafil, the spectra of the piperazine-containing compounds 2–4 showed a novel fragmentation pattern leading to an <em>m/z> = 316. A mechanism for the formation of this fragment was proposed.

  7. Increase of gastric area and weight gain in rats submitted to the ingestion of gasified water Aumento de área gástrica e ganho de peso em ratos submetidos à ingestão de água gaseificada

    Directory of Open Access Journals (Sweden)

    José Roberto Ferreira Santiago

    2004-06-01

    Full Text Available PURPOSE: Due to the progressive increasing in the use of gasified drinks and weight gain in the Brazilian population, in addition to the fact that carbonic gas is present in all soft drinks, an experimental study was conducted using rats as the subject to investigate the effects of gasified water in the hydric ingestion and food intake, weight gain, gastric area, blood sugar, hematocrit, and hemoglobin. METHODS: Four groups of 12 rats were studied for 36 days while receiving the following daily diet, four times per day: Group 1 - 35g/day of rat food "ad libitum" and 20ml of non-gasified water; Group 2 - 35g/day of rat food "ad libitum" and 20 ml of gasified water; Group 3 - 10g/day of rat food "ad libitum" and 20ml of non-gasified water; and Group 4 - 10g/day of rat food "ad libitum" and 20ml of gasified water. RESULTS: The results showed that the animals submitted to the treatment with gasified water (Groups 2 and 4, presented a larger volume of hydric ingestion and significant increase of the gastric area (pOBJETIVO: Em virtude do aumento progressivo da utilização de bebidas gaseificadas e do ganho de peso na população brasileira, e sabendo-se que os refrigerantes têm no gás carbônico um fator em comum, planejou-se um estudo experimental em ratos para investigar os efeitos da água gaseificada na ingestão hídrica e alimentar, ganho de peso, área gástrica, glicemia, hematócrito e hemoglobina. MÉTODOS: Foram constituídos 4 grupos de 12 ratos acompanhados por 36 dias. Ao Grupo-1 foi oferecido 35 g/dia de ração "ad libitum" e 20 ml de água não gaseificada em 4 períodos diários, ao Grupo-2 foi oferecido 35 g/dia de ração "ad libitum" e 20 ml de água gaseificada em 4 períodos diários, ao Grupo-3 foi oferecido 10 g/dia de ração "ad libitum" e 20 ml de água não gaseificada em 4 períodos diários e ao Grupo-4 foi oferecido 10 g/dia de ração "ad libitum" e 20 ml de água gaseificada em 4 períodos diários. RESULTADOS: Os

  8. Psychosis in behavioral variant frontotemporal dementia

    Directory of Open Access Journals (Sweden)

    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

  9. Ingestion of polydextrose increase the iron absorption in rats submitted to partial gastrectomy A ingestão de polidextrose aumenta a absorção de ferro em ratos submetidos à gastrectomia parcial

    Directory of Open Access Journals (Sweden)

    Elisvânia Freitas dos Santos

    2010-12-01

    . O hematócrito e a hemoglobina foram dosados no início e nos dias 30 e 56 após o início do período experimental. No final do estudo, o sangue foi coletado para determinação da concentração de ferro sérico. RESULTADOS: A dieta com polidextrose reduziu a excreção de ferro e a absorção de ferro aparente foi maior nos grupos alimentados com polidextrose do que no grupo controle. As dosagens de hematócrito e hemoglobina foram menores em ratos com gastrectomia alimentados com a dieta controle em relação aos grupos de dieta com polidextrose. CONCLUSÃO: A polidextrose aumenta a absorção do ferro e previne a anemia pós-gastrectomia.

  10. Efeito do extrato aquoso de alecrim (Rosmarinus officinalis L. sobre o estresse oxidativo em ratos diabéticos Effect of aqueous rosemary extract (Rosmarinus officinalis L. on the oxidative stress of diabetic rats

    Directory of Open Access Journals (Sweden)

    Ana Mara de Oliveira e Silva

    2011-02-01

    Full Text Available OBJETIVO: Avaliar o efeito do extrato aquoso de alecrim sobre o estresse oxidativo em ratos diabéticos. MÉTODOS: O extrato aquoso de alecrim foi obtido por método sequencial. Os fenólicos totais foram determinados pelo método de Folin Ciocateau e a atividade antioxidante in vitro foi determinada através de três métodos: β-caroteno/ácido linoleico, varredura do radical 2,2 Difenil-1-Picril-hidrazil e oxigen radical absorbance capacity. Ratos Wistar machos foram distribuídos em 5 grupos: controle, diabético, e três grupos de animais diabéticos tratados com extrato aquoso de alecrim em concentrações diferentes: 25, 50 ou 100mg/kg por via oral durante 30 dias. O diabetes foi induzido por estreptozotocina e, no final do experimento, foi coletado sangue para avaliar o percentual de hemoglobina glicada e os tecidos hepático e cerebral para determinação das enzimas antioxidantes: superóxido dismutase, catalase, glutationa peroxidase e glutationa redutase. RESULTADOS: Constatou-se que o extrato aquoso de alecrim apresentou altos teores de compostos fenólicos totais e expressiva atividade antioxidante in vitro nos três métodos de avaliação. O extrato aquoso de alecrim na concentração de 50mg/kg diminuiu o percentual de hemoglobina glicada e aumentou a atividade das enzimas catalase e glutationa peroxidase no fígado, e da superóxido dismutase no cérebro de ratos diabéticos. No entanto, não foi observado efeito dose-resposta nas demais concentrações analisadas. CONCLUSÃO: O extrato aquoso de alecrim apresenta significativa capacidade antioxidante in vitro, atribuída à presença de compostos fenólicos em sua composição. E, quando administrado em ratos na concentração de 50mg/kg, demonstrou-se eficiente na atenuação do estresse oxidativo presente no diabetes experimental.OBJECTIVE: This study assessed the effect of aqueous rosemary extract on the oxidative stress of diabetic rats. METHODS: Aqueous rosemary extract

  11. Amino acid changes in disease-associated variants differ radically from variants observed in the 1000 genomes project dataset.

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    Tjaart A P de Beer

    Full Text Available The 1000 Genomes Project data provides a natural background dataset for amino acid germline mutations in humans. Since the direction of mutation is known, the amino acid exchange matrix generated from the observed nucleotide variants is asymmetric and the mutabilities of the different amino acids are very different. These differences predominantly reflect preferences for nucleotide mutations in the DNA (especially the high mutation rate of the CpG dinucleotide, which makes arginine mutability very much higher than other amino acids rather than selection imposed by protein structure constraints, although there is evidence for the latter as well. The variants occur predominantly on the surface of proteins (82%, with a slight preference for sites which are more exposed and less well conserved than random. Mutations to functional residues occur about half as often as expected by chance. The disease-associated amino acid variant distributions in OMIM are radically different from those expected on the basis of the 1000 Genomes dataset. The disease-associated variants preferentially occur in more conserved sites, compared to 1000 Genomes mutations. Many of the amino acid exchange profiles appear to exhibit an anti-correlation, with common exchanges in one dataset being rare in the other. Disease-associated variants exhibit more extreme differences in amino acid size and hydrophobicity. More modelling of the mutational processes at the nucleotide level is needed, but these observations should contribute to an improved prediction of the effects of specific variants in humans.

  12. Cellulase variants with improved expression, activity and stability, and use thereof

    Science.gov (United States)

    Aehle, Wolfgang; Bott, Richard R; Bower, Benjamin; Caspi, Jonathan; Estell, David A; Goedegebuur, Frits; Hommes, Ronaldus W.J.; Kaper, Thijs; Kelemen, Bradley; Kralj, Slavko; Van Lieshout, Johan; Nikolaev, Igor; Van Stigt Thans, Sander; Wallace, Louise; Vogtentanz, Gudrun; Sandgren, Mats

    2014-03-25

    The present disclosure relates to cellulase variants. In particular the present disclosure relates to cellulase variants having improved expression, activity and/or stability. Also described are nucleic acids encoding the cellulase variants, compositions comprising the cellulase variants, and methods of use thereof.

  13. Cellulase variants with improved expression, activity and stability, and use thereof

    Energy Technology Data Exchange (ETDEWEB)

    Aehle, Wolfgang; Bott, Richard R.; Bower, Benjamin S.; Caspi, Jonathan; Goedegebuur, Frits; Hommes, Ronaldus Wilhelmus Joannes; Kaper, Thijs; Kelemen, Bradley R.; Kralj, Slavko; Van Lieshout, Johannes Franciscus Thomas; Nikolaev, Igor; Wallace, Louise; Van Stigt Thans, Sander; Vogtentanz, Gudrun; Sandgren, Mats

    2016-12-20

    The present disclosure relates to cellulase variants. In particular the present disclosure relates to cellulase variants having improved expression, activity and/or stability. Also described are nucleic acids encoding the cellulase variants, compositions comprising the cellulase variants, and methods of use thereof.

  14. Anestesia Diploica em Endodontia

    OpenAIRE

    Macedo, Ricardo Ribeiro Veiga de

    2013-01-01

    Trabalho final do 5º ano com vista à atribuição do grau de mestre no âmbito do ciclo de estudos de Mestrado Integrado em Medicina Dentária apresentado à Faculdade de Medicina da Universidade de Coimbra. Objetivos Comparar a eficácia das técnicas de anestesia convencionais, a anestesia infiltrativa periapical, com a anestesia diploica. Metodologia Foram selecionados 32 voluntários, saudáveis, aos quais foram administradas ambas as técnicas anestésicas no dente 1.4. Numa primeira fase os...

  15. Burnout em Cuidadores Formais

    OpenAIRE

    Silva, Juliana Marisa Fernandes

    2016-01-01

    Dissertação apresentada à Universidade Fernando Pessoa como parte dos requisitos para a obtenção do grau de Mestre em Psicologia, ramo de Psicologia Clínica e da Saúde Este estudo é sobre a Síndrome de Burnout e teve como objetivo geral compreender se o Burnout está presente nos cuidadores formais da Santa Casa da Misericórdia de Castelo de Paiva e quais as variáveis socioprofissionais que poderão exercer influência no seu aparecimento. Pretendeu-se avaliar o Burnout dos cuidadores a tr...

  16. Antioxidant Profile of <em>Trifolium pratenseem> L.

    Directory of Open Access Journals (Sweden)

    Heidy Schwartsova

    2012-09-01

    Full Text Available In order to examine the antioxidant properties of five different extracts of <em>Trifolium pratenseem> L. (Leguminosae leaves, various assays which measure free radical scavenging ability were carried out: 1,1-diphenyl-2-picrylhydrazyl, hydroxyl, superoxide anion and nitric oxide radical scavenger capacity tests and lipid peroxidation assay. In all of the tests, only the H2O and (to some extent the EtOAc extracts showed a potent antioxidant effect compared with BHT and BHA, well-known synthetic antioxidants. In addition, <em>in vivo em>experiments were conducted with antioxidant systems (activities of GSHPx, GSHR, Px, CAT, XOD, GSH content and intensity of LPx in liver homogenate and blood of mice after their treatment with extracts of <em>T. pratenseem> leaves, or in combination with CCl4. Besides, in the extracts examined the total phenolic and flavonoid amounts were also determined, together with presence of the selected flavonoids: quercetin, luteolin, apigenin, naringenin and kaempferol, which were studied using a HPLC-DAD technique. HPLC-DAD analysis showed a noticeable content of natural products according to which the examined <em>Trifolium pratenseem> species could well be regarded as a promising new source of bioactive natural compounds, which can be used both as a food supplement and a remedy.

  17. Proximate Composition, Nutritional Attributes and Mineral Composition of <em>Peperomia> <em>pellucida> L. (Ketumpangan Air Grown in Malaysia

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    Maznah Ismail

    2012-09-01

    Full Text Available This study presents the proximate and mineral composition of <em>Peperomia> <em>pellucida> L., an underexploited weed plant in Malaysia. Proximate analysis was performed using standard AOAC methods and mineral contents were determined using atomic absorption spectrometry. The results indicated <em>Peperomia> <em>pellucida> to be rich in crude protein, carbohydrate and total ash contents. The high amount of total ash (31.22% suggests a high-value mineral composition comprising potassium, calcium and iron as the main elements. The present study inferred that <em>Peperomia> <em>pellucida> would serve as a good source of protein and energy as well as micronutrients in the form of a leafy vegetable for human consumption.

  18. 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.

  19. 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.

  20. HFE gene variants affect iron in the brain.

    Science.gov (United States)

    Nandar, Wint; Connor, James R

    2011-04-01

    Iron accumulation in the brain and increased oxidative stress are consistent observations in many neurodegenerative diseases. Thus, we have begun examination into gene mutations or allelic variants that could be associated with loss of iron homeostasis. One of the mechanisms leading to iron overload is a mutation in the HFE gene, which is involved in iron metabolism. The 2 most common HFE gene variants are C282Y (1.9%) and H63D (8.9%). The C282Y HFE variant is more commonly associated with hereditary hemochromatosis, which is an autosomal recessive disorder, characterized by iron overload in a number of systemic organs. The H63D HFE variant appears less frequently associated with hemochromatosis, but its role in the neurodegenerative diseases has received more attention. At the cellular level, the HFE mutant protein resulting from the H63D HFE gene variant is associated with iron dyshomeostasis, increased oxidative stress, glutamate release, tau phosphorylation, and alteration in inflammatory response, each of which is under investigation as a contributing factor to neurodegenerative diseases. Therefore, the HFE gene variants are proposed to be genetic modifiers or a risk factor for neurodegenerative diseases by establishing an enabling milieu for pathogenic agents. This review will discuss the current knowledge of the association of the HFE gene variants with neurodegenerative diseases: amyotrophic lateral sclerosis, Alzheimer's disease, Parkinson's disease, and ischemic stroke. Importantly, the data herein also begin to dispel the long-held view that the brain is protected from iron accumulation associated with the HFE mutations.

  1. Biochemical characterization of the GM2 gangliosidosis B1 variant

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    Tutor J.C.

    2004-01-01

    Full Text Available The deficiency of the A isoenzyme of ß-hexosaminidase (Hex produced by different mutations of the gene that codes for the alpha subunit (Tay-Sachs disease has two variants with enzymological differences: the B variant consists of the absence of Hex A isoenzyme and the B1 variant produces an inactive Hex A isoenzyme for the hydrolysis of the GM2 ganglioside and synthetic substrates with negative charge. In contrast to the early childhood form of the B variant, the B1 variant appears at a later clinical stage (3 to 7 years of age with neurodegenerative symptoms leading to the death of the patient in the second decade of life. The most frequent mutation responsible for the GM2 gangliosidosis B1 variant is R178H, which has a widespread geographic and ethnic distribution. The highest incidence has been described in Portugal, which has been suggested as the point of origin of this mutation. Biochemical characterization of this lysosomal disease is carried out using negatively charged synthetic alpha subunit-specific sulfated substrates, since Hex A isoenzyme heat-inactivation assays are not applicable. However, the determination of the apparent activation energy of Hex using the neutral substrate 3,3'-dichlorophenolsulfonphthaleinyl N-acetyl-ß-D-glucosaminide, may offer a valid alternative. The presence of an alpha subunit in the alphaß heterodimer Hex A means that its activation energy (41.8 kJ/mol is significantly lower than that of the ßß homodimer Hex B (75.1 kJ/mol; however, as mutation inactivates the alpha subunit, the Hex A of the B1 variant presents an activation energy that is similar to that of the Hex B isoenzyme.

  2. Genomic constitution of an H-2:Tla variant leukemia.

    Science.gov (United States)

    Shen, F W; Chaganti, R S; Doucette, L A; Litman, G W; Steinmetz, M; Hood, L; Boyse, E A

    1984-10-01

    A TL+ leukemia of a (B6 X A)F1 hybrid mouse (H-2b/H-2a) was previously subjected to immunoselection against H-2a by passage in (B6 X A.SW)F1 mice (H-2b/H-2s). A variant leukemia line was obtained that serologically lacked not only the H-2a phenotype but also the TL phenotype determined by the linked cis Tlaa allele of strain A. The H-2b phenotype and the TL phenotype of the Tlab allele of the B6 strain, which is expressed only by leukemia cells, were retained by the variant. Southern blotting with an H-2 cDNA probe that identifies restriction fragment polymorphisms distinguishing alleles of the H-2 and Tla regions of the B6 and A strains indicates that both the H-2a and Tlaa alleles are missing from the genome of this H-2a:Tlaa negative variant. Since the variant has two apparently unaltered chromosomes 17, where the H-2:Tla complex is situated, and since the intensity of bands in Southern blotting is suggestive of H-2b homozygosity, it is considered that loss of the H-2a:Tlaa haplotype by the variant was accompanied by duplication of the H-2b:Tlab haplotype. The implied change from heterozygosity to homozygosity that the variant has undergone with respect to H-2:Tla was not paralleled by a similar change at the three other loci tested, since the variant retained heterozygosity for Pep-3 (chromosome 1), Gpi-1 (chromosome 7), and Es-1 (chromosome 8).

  3. Diverse Functional Properties of Wilson Disease ATP7B Variants

    Science.gov (United States)

    Huster, Dominik; Kühne, Angelika; Bhattacharjee, Ashima; Raines, Lily; Jantsch, Vanessa; Noe, Johannes; Schirrmeister, Wiebke; Sommerer, Ines; Sabri, Osama; Berr, Frieder; Mössner, Joachim; Stieger, Bruno; Caca, Karel; Lutsenko, Svetlana

    2012-01-01

    BACKGROUND & AIMS Wilson disease is a severe disorder of copper metabolism caused by mutations in ATP7B, which encodes a copper-transporting adenosine triphosphatase. The disease presents with a variable phenotype that complicates the diagnostic process and treatment. Little is known about the mechanisms that contribute to the different phenotypes of the disease. METHODS We analyzed 28 variants of ATP7B from patients with Wilson disease that affected different functional domains; the gene products were expressed using the baculovirus expression system in Sf9 cells. Protein function was analyzed by measuring catalytic activity and copper (64Cu) transport into vesicles. We studied intracellular localization of variants of ATP7B that had measurable transport activities and were tagged with green fluorescent protein in mammalian cells using confocal laser scanning microscopy. RESULTS Properties of ATP7B variants with pathogenic amino-acid substitution varied greatly even if substitutions were in the same functional domain. Some variants had complete loss of catalytic and transport activity, whereas others lost transport activity but retained phosphor-intermediate formation or had partial losses of activity. In mammalian cells, transport-competent variants differed in stability and subcellular localization. CONCLUSIONS Variants in ATP7B associated with Wilson disease disrupt the protein’s transport activity, result in its mislocalization, and reduce its stability. Single assays are insufficient to accurately predict the effects of ATP7B variants the function of its product and development of Wilson disease. These findings will contribute to our understanding of genotype–phenotype correlation and mechanisms of disease pathogenesis. PMID:22240481

  4. Intoxicação experimental por cebola, Allium cepa (Liliaceae, em gatos Experimental onion Allium cepa (Liliaceae poisoning in cats

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    Rafael A. Fighera

    2002-04-01

    Full Text Available A intoxicação por cebola é relatada em várias espécies animais em muitas partes do mundo. O princípio tóxico (n-propil dissulfito presente na cebola causa a transformação da hemoglobina em metemoglobina. Para estudar os achados laboratoriais, de necropsia e histopatológicos da intoxicação por cebola em gatos, cinco gatos de quatro meses de idade receberam cada um uma dose única de 10g/kg de cebola desidratada por via oral. Um outro gato de mesma idade não recebeu a refeição com cebola e serviu como controle. Todos os cinco gatos desenvolveram sinais clínicos da toxicose; um deles morreu dentro de 24 horas após a ingestão da cebola. Os sinais clínicos incluíram apatia, taquicardia, taquipnéia e cianose. Os achados laboratoriais se caracterizavam por anemia hemolítica associada a corpúsculos de Heinz e metemoglobinemia. Os principais achados de necropsia foram esplenomegalia e sangue de cor marrom. Os achados histopatológicos foram hemossiderose e hematopoese extramedular no baço e fígado.Onion poisoning is reported worlwide in several animal species. The toxic principle (n-propyl dissulfide present in onions causes the transformation of hemoglobin in methemoglobin. In order to study the laboratory, gross and histopathological findings in onion poisoning in cats, five 4-month-old cats were fed a single dose of 10g/kg of dried-onion each. Another cat of the same age did not receive the onion meal and served as control. All five cats developed clinical signs of the toxicosis; one of them died within 24 hours of the ingestion of the onion meal. Clinical signs included apathy, tachycardia, tachypnea, and cyanosis. Laboratory findings included hemolytic anemia associated with Heinz bodies and methemoglobinemia. Main necropsy findings were splenomegaly and brown discoloration of blood. Histopathological findings included splenic and hepatic hemosiderosis and multifocal extramedullary hematopoiesis.

  5. O insight em psiquiatria

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    Ana Margarida P. Cardoso

    2008-12-01

    Full Text Available O sinal de que algo está a acontecer contribui para que o paciente reconheça que alguma coisa de estranho se está a passar consigo. Este reconhecimento faz com que o sujeito possa desempenhar uma função activa e seja um elemento colaborante do seu processo de recuperação. Cada doença apresenta, contudo, diferentes sintomas, uma vez que cada doença psiquiátrica consiste em diferentes perturbações com diversos efeitos sobre o funcionamento mental. Desta maneira, o fenómeno do insight que é registado em cada doença é diferente e expressa-se sob diferentes formas, não somente devido às manifestações clínicas da doença mas também devido às características individuais do sujeito.

  6. Antibioticos profilaticos em neurocirurgia

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    Reynaldo A. Brandt

    1979-03-01

    Full Text Available O índice de infecções pós-operatórias em pacientes neuro-cirúrgicos que receberam antibióticos profiláticos neste período foi comparado com o de pacientes que não receberam antibióticos. Infecções ocorreram em proporções significativamente maiores nos pacientes que receberam antibióticos, particularmente naqueles com afecções intracranianas graves; estas infecções foram graves e fatais na maioria dos casos. A administração de antibióticos profiláticos nestes pacientes não só foi incapaz de prevenir o aparecimento de infecções pós-operatórias, como aparentemente favoreceu o seu desenvolvimento. Tal se deveu, provavelmente, à destruição do equilíbrio microbiano no organismo, favorecendo o desenvolvimento de germes patogênicos e resistentes aos antibióticos usuais

  7. A democracia em Cuba

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    Julio César Guanche Zaldívar

    2011-01-01

    Full Text Available O triunfo revolucionário de 1959 consagrou em Cuba um novo conceito de democracia, com o intuito de garantir o acesso à vida política ativa de grandes setores da população, antes excluídos. Para isso, foi desenvolvida uma política de inclusão social com caráter universal. A prática política popular deixou as riquezas do país em mãos da população carente e gerou uma grande mobilidade social, fato que foi central para o aumento da participação popular. O contexto de agressão imperialista e o próprio desenvolvimento do processo produziram a consolidação de noções que limitaram a participação popular: o apogeu da burocracia, a compreensão da unidade como unanimidade e o seguimento, em certa medida, de correntes do marxismo soviético. Os desafios atuais para aprofundar a democracia em Cuba se apresentam em três planos: socializar o poder, promover a sociodiversidade e desenvolver a ideologia revolucionária.El triunfo revolucionario de 1959 consagró en Cuba un nuevo concepto de democracia, basado en garantizar acceso a la vida política activa a grandes sectores poblacionales, antes excluidos de ella. Para ello desarrolló una política de inclusión social con carácter universal. La práctica política popular puso las riquezas del país en manos de los desposeídos y generó gran movilidad social, hecho que resultó clave para el aumento de la participación popular. El contexto de agresión imperialista y el propio desarrollo del proceso produjo el afianzamiento de nociones que limitaron la participación popular: el auge de la burocracia, la comprensión de la unidad como unanimidad y el seguimiento, en parte, de corrientes del marxismo soviético. Los desafíos actuales se presentan en tres planos para profundizar la democracia en Cuba: socializar el poder, promover la sociodiversidad y desarrollar la ideología revolucionaria.The revolutionary triumph of 1959 established in Cuba a new concept of democracy, one that

  8. Identified EM Earthquake Precursors

    Science.gov (United States)

    Jones, Kenneth, II; Saxton, Patrick

    2014-05-01

    Many attempts have been made to determine a sound forecasting method regarding earthquakes and warn the public in turn. Presently, the animal kingdom leads the precursor list alluding to a transmission related source. By applying the animal-based model to an electromagnetic (EM) wave model, various hypotheses were formed, but the most interesting one required the use of a magnetometer with a differing design and geometry. To date, numerous, high-end magnetometers have been in use in close proximity to fault zones for potential earthquake forecasting; however, something is still amiss. The problem still resides with what exactly is forecastable and the investigating direction of EM. After a number of custom rock experiments, two hypotheses were formed which could answer the EM wave model. The first hypothesis concerned a sufficient and continuous electron movement either by surface or penetrative flow, and the second regarded a novel approach to radio transmission. Electron flow along fracture surfaces was determined to be inadequate in creating strong EM fields, because rock has a very high electrical resistance making it a high quality insulator. Penetrative flow could not be corroborated as well, because it was discovered that rock was absorbing and confining electrons to a very thin skin depth. Radio wave transmission and detection worked with every single test administered. This hypothesis was reviewed for propagating, long-wave generation with sufficient amplitude, and the capability of penetrating solid rock. Additionally, fracture spaces, either air or ion-filled, can facilitate this concept from great depths and allow for surficial detection. A few propagating precursor signals have been detected in the field occurring with associated phases using custom-built loop antennae. Field testing was conducted in Southern California from 2006-2011, and outside the NE Texas town of Timpson in February, 2013. The antennae have mobility and observations were noted for

  9. As variantes lexicais de carne-seca no norte mato-grossense

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    Manoel Mourivaldo Santiago-Almeida

    2015-05-01

    Full Text Available Este artigo apresenta um estudo de cunho sócio-geolinguístico fundamentado na teoria da variação laboviana, na concepção de norma de Coseriu (1979 e nas noções de estatística lexical de Muller (1968, e se propõe a refletir sobre a variedade do português falado em quatro pontos da região norte mato-grossense. São apresentados, para tanto, registros e análise das variantes lexicais do tema carne-seca. O resultado dessa análise sugere que as influências regionais que constituíram e ainda constituem o português falado nesse espaço geográfico são oriundas do contato de todos os dialetos e idioletos trazidos pelos migrantes de suas regiões de origem. Trata-se, portanto, de um recorte da linguagem utilizada nessa comunidade para representar o mundo sociocultural que a cerca. This article presents a socio-geolinguistic study founded on the Labovian variation theory, on the principle conception by Coseriu (1979 and on the lexical statistics notions by Muller (1968. It aims to ponder about the variety of the Portuguese language spoken in four sites of the North region of Mato Grosso. Records and analysis of the variants are presented about the theme jerked beef. The result of this analysis suggests that the regional influences that have constituted the spoken Portuguese in that geographical space are resultant of the contact with all the dialects and idiolects brought by migrants from their original regions. Therefore, it is all about a language cutting used in that community to represent the socio-cultural world that surrounds it.

  10. Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

    Science.gov (United States)

    Schrader, Kasmintan A; Cheng, Donavan T; Joseph, Vijai; Prasad, Meera; Walsh, Michael; Zehir, Ahmet; Ni, Ai; Thomas, Tinu; Benayed, Ryma; Ashraf, Asad; Lincoln, Annie; Arcila, Maria; Stadler, Zsofia; Solit, David; Hyman, David M; Hyman, David; Zhang, Liying; Klimstra, David; Ladanyi, Marc; Offit, Kenneth; Berger, Michael; Robson, Mark

    2016-01-01

    Tumor genetic sequencing identifies potentially targetable genetic alterations with therapeutic implications. Analysis has concentrated on detecting tumor-specific variants, but recognition of germline variants may prove valuable as well. To estimate the burden of germline variants identified through routine clinical tumor sequencing. Patients with advanced cancer diagnoses eligible for studies of targeted agents at Memorial Sloan Kettering Cancer Center are offered tumor-normal sequencing with MSK-IMPACT, a 341-gene panel. We surveyed the germline variants seen in 187 overlapping genes with Mendelian disease associations in 1566 patients who had undergone tumor profiling between March and October 2014. The number of presumed pathogenic germline variants (PPGVs) and variants of uncertain significance per person in 187 genes associated with single-gene disorders and the proportions of individuals with PPGVs in clinically relevant gene subsets, in genes consistent with known tumor phenotypes, and in genes with evidence of second somatic hits in their tumors. The mean age of the 1566 patients was 58 years, and 54% were women. Presumed pathogenic germline variants in known Mendelian disease-associated genes were identified in 246 of 1566 patients (15.7%; 95% CI, 14.0%-17.6%), including 198 individuals with mutations in genes associated with cancer susceptibility. Germline findings in cancer susceptibility genes were concordant with the individual's cancer type in only 81 of 198 cases (40.9%; 95% CI, 34.3%-47.9%). In individuals with PPGVs retained in the tumor, somatic alteration of the other allele was seen in 39 of 182 cases (21.4%; 95% CI, 16.1%-28.0%), of which 13 cases did not show a known correlation of the germline mutation and a known syndrome. Mutations in non-cancer-related Mendelian disease genes were seen in 55 of 1566 cases (3.5%; 95% CI, 27.1%-45.4%). Almost every individual had more than 1 variant of uncertain significance (1565 of 1566 patients; 99

  11. Plateau iris Íris em platô

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    Alberto Diniz Filho

    2008-10-01

    Full Text Available The term plateau iris was first coined in 1958 to describe the iris configuration of a patient. Two years later the concept of plateau iris was published. In 1977, the plateau iris configuration was classically defined as presurgical changes of an eye with a relative normal central anterior chamber depth, flat iris by conventional biomicroscopy, but displaying an extremely narrow or closed angle on gonioscopic examination. On the other hand, the plateau iris syndrome was defined as an acute glaucoma crisis in one eye with a relative normal central anterior chamber depth and patent iridotomy on direct examination, presenting angle closure confirmed by gonioscopic examination after mydriasis. In 1992, the anatomic aspects of plateau iris were studied using ultrasound biomicroscopy. Finally, plateau iris has been considered an anatomic variant of iris structure in which the iris periphery angulates sharply forward from its insertion point and then again angulates sharply and centrally backward, along with an anterior positioning of the ciliary processes seen on ultrasound biomicroscopy. The clinical treatment of plateau iris syndrome is carried out with topical use of pilocarpine. However, the definitive treatment should be fulfilled by performing an argon laser peripheral iridoplasty.O termo íris em platô foi primeiramente inventado em 1958 para descrever a configuração da íris de um paciente. Dois anos depois o conceito de íris em platô foi publicado. Em 1977, a configuração de íris em platô foi classicamente definida como alterações pré-cirúrgicas de um olho com uma profundidade de câmara anterior relativamente normal, íris plana pela biomicroscopia convencional, mas mostrando um ângulo extremamente estreito ou fechado pela gonioscopia. Por outro lado, a síndrome de íris em platô foi definida como uma crise de glaucoma agudo em um olho com uma profundidade de câmara anterior relativamente normal e uma iridectomia patente ao

  12. Screening for common copy-number variants in cancer genes.

    Science.gov (United States)

    Tyson, Jess; Majerus, Tamsin M O; Walker, Susan; Armour, John A L

    2010-12-01

    For most cases of colorectal cancer that arise without a family history of the disease, it is proposed that an appreciable heritable component of predisposition is the result of contributions from many loci. Although progress has been made in identifying single nucleotide variants associated with colorectal cancer risk, the involvement of low-penetrance copy number variants is relatively unexplored. We have used multiplex amplifiable probe hybridization (MAPH) in a fourfold multiplex (QuadMAPH), positioned at an average resolution of one probe per 2 kb, to screen a total of 1.56 Mb of genomic DNA for copy number variants around the genes APC, AXIN1, BRCA1, BRCA2, CTNNB1, HRAS, MLH1, MSH2, and TP53. Two deletion events were detected, one upstream of MLH1 in a control individual and the other in APC in a colorectal cancer patient, but these do not seem to correspond to copy number polymorphisms with measurably high population frequencies. In summary, by means of our QuadMAPH assay, copy number measurement data were of sufficient resolution and accuracy to detect any copy number variants with high probability. However, this study has demonstrated a very low incidence of deletion and duplication variants within intronic and flanking regions of these nine genes, in both control individuals and colorectal cancer patients. Copyright © 2010 Elsevier Inc. All rights reserved.

  13. Functional significance of rare neuroligin 1 variants found in autism.

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    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.

  14. HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

    Science.gov (United States)

    den Dunnen, Johan T; Dalgleish, Raymond; Maglott, Donna R; Hart, Reece K; Greenblatt, Marc S; McGowan-Jordan, Jean; Roux, Anne-Francoise; Smith, Timothy; Antonarakis, Stylianos E; Taschner, Peter E M

    2016-06-01

    The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome. In particular, DNA diagnostics critically depends on accurate and standardized description and sharing of the variants detected. The sequence variant nomenclature system proposed in 2000 by the Human Genome Variation Society has been widely adopted and has developed into an internationally accepted standard. The recommendations are currently commissioned through a Sequence Variant Description Working Group (SVD-WG) operating under the auspices of three international organizations: the Human Genome Variation Society (HGVS), the Human Variome Project (HVP), and the Human Genome Organization (HUGO). Requests for modifications and extensions go through the SVD-WG following a standard procedure including a community consultation step. Version numbers are assigned to the nomenclature system to allow users to specify the version used in their variant descriptions. Here, we present the current recommendations, HGVS version 15.11, and briefly summarize the changes that were made since the 2000 publication. Most focus has been on removing inconsistencies and tightening definitions allowing automatic data processing. An extensive version of the recommendations is available online, at http://www.HGVS.org/varnomen. © 2016 WILEY PERIODICALS, INC.

  15. ABCA7 rare variants and Alzheimer disease risk.

    Science.gov (United States)

    Le Guennec, Kilan; Nicolas, Gaël; Quenez, Olivier; Charbonnier, Camille; Wallon, David; Bellenguez, Céline; Grenier-Boley, Benjamin; Rousseau, Stéphane; Richard, Anne-Claire; Rovelet-Lecrux, Anne; Bacq, Delphine; Garnier, Jean-Guillaume; Olaso, Robert; Boland, Anne; Meyer, Vincent; Deleuze, Jean-François; Amouyel, Philippe; Munter, Hans Markus; Bourque, Guillaume; Lathrop, Mark; Frebourg, Thierry; Redon, Richard; Letenneur, Luc; Dartigues, Jean-François; Pasquier, Florence; Rollin-Sillaire, Adeline; Génin, Emmanuelle; Lambert, Jean-Charles; Hannequin, Didier; Campion, Dominique

    2016-06-07

    To study the association between ABCA7 rare coding variants and Alzheimer disease (AD) in a case-control setting. We conducted a whole exome analysis among 484 French patients with early-onset AD and 590 ethnically matched controls. After collapsing rare variants (minor allele frequency ≤1%), we detected an enrichment of ABCA7 loss of function (LOF) and predicted damaging missense variants in cases (odds ratio [OR] 3.40, 95% confidence interval [CI] 1.68-7.35, p = 0.0002). Performing a meta-analysis with previously published data, we found that in a combined sample of 1,256 patients and 1,347 controls from France and Belgium, the OR was 2.81 (95% CI 1.89-4.20, p = 3.60 × 10(-7)). These results confirm that ABCA7 LOF variants are enriched in patients with AD and extend this finding to predicted damaging missense variants. © 2016 American Academy of Neurology.

  16. 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, Michael A; Nichols, Thomas E; Nilsson, Lars G; Nöthen, Markus M; Ohi, Kazutaka; Olvera, Rene L; Perez-Iglesias, Rocio; Pike, G Bruce; Potkin, Steven G; Reinvang, Ivar; Reppermund, Simone; Rietschel, Marcella; Romanczuk-Seiferth, Nina; Rosen, Glenn D; Rujescu, Dan; Schnell, Knut; Schofield, Peter R; Smith, Colin; Steen, Vidar M; Sussmann, Jessika E; Thalamuthu, Anbupalam; Toga, Arthur W; Traynor, Bryan J; Troncoso, Juan; Turner, Jessica A; Valdés Hernández, Maria C; van 't Ent, Dennis; van der Brug, Marcel; van der Wee, Nic J A; van Tol, Marie-Jose; Veltman, Dick J; Wassink, Thomas H; Westman, Eric; Zielke, Ronald H; Zonderman, Alan B; Ashbrook, David G; Hager, Reinmar; Lu, Lu; McMahon, Francis J; Morris, Derek W; Williams, Robert W; Brunner, Han G; Buckner, Randy L; Buitelaar, Jan K; Cahn, Wiepke; Calhoun, Vince D; Cavalleri, Gianpiero L; Crespo-Facorro, Benedicto; Dale, Anders M; Davies, Gareth E; Delanty, Norman; Depondt, Chantal; Djurovic, Srdjan; Drevets, Wayne C; Espeseth, Thomas; Gollub, Randy L; Ho, Beng-Choon; Hoffmann, Wolfgang; Hosten, Norbert; Kahn, René S; Le Hellard, Stephanie; Meyer-Lindenberg, Andreas; Müller-Myhsok, Bertram; Nauck, Matthias; Nyberg, Lars; Pandolfo, Massimo; Penninx, Brenda W J H; Roffman, Joshua L; Sisodiya, Sanjay M; Smoller, Jordan W; van Bokhoven, Hans; van Haren, Neeltje E M; Völzke, Henry; Walter, Henrik; Weiner, Michael W; Wen, Wei; White, Tonya; Agartz, Ingrid; Andreassen, Ole A; Blangero, John; Boomsma, Dorret I; Brouwer, Rachel M; Cannon, Dara M; Cookson, Mark R; de Geus, Eco J C; Deary, Ian J; Donohoe, Gary; Fernández, Guillén; Fisher, Simon E; Francks, Clyde; Glahn, David C; Grabe, Hans J; Gruber, Oliver; Hardy, John; Hashimoto, Ryota; Hulshoff Pol, Hilleke E; Jönsson, Erik G; Kloszewska, Iwona; Lovestone, Simon; Mattay, Venkata S; Mecocci, Patrizia; McDonald, Colm; McIntosh, Andrew M; Ophoff, Roel A; Paus, Tomas; Pausova, Zdenka; Ryten, Mina; Sachdev, Perminder S; Saykin, Andrew J; Simmons, Andy; Singleton, Andrew; Soininen, Hilkka; Wardlaw, Joanna M; Weale, Michael E; Weinberger, Daniel R; Adams, Hieab H H; Launer, Lenore J; Seiler, Stephan; Schmidt, Reinhold; Chauhan, Ganesh; Satizabal, Claudia L; Becker, James T; Yanek, Lisa; van der Lee, Sven J; Ebling, Maritza; Fischl, Bruce; Longstreth, W T; Greve, Douglas; Schmidt, Helena; Nyquist, Paul; Vinke, Louis N; van Duijn, Cornelia M; Xue, Luting; Mazoyer, Bernard; Bis, Joshua C; Gudnason, Vilmundur; Seshadri, Sudha; Ikram, M Arfan; Martin, Nicholas G; Wright, Margaret J; Schumann, Gunter; Franke, Barbara; Thompson, Paul M; Medland, Sarah E

    2015-04-09

    The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume and intracranial volume. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10(-33); 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction.

  17. 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.

  18. [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.

  19. 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, Michael A.; Nichols, Thomas E.; Nilsson, Lars G.; Nöthen, Markus M.; Ohi, Kazutaka; Olvera, Rene L.; Perez-Iglesias, Rocio; Pike, G. Bruce; Potkin, Steven G.; Reinvang, Ivar; Reppermund, Simone; Rietschel, Marcella; Romanczuk-Seiferth, Nina; Rosen, Glenn D.; Rujescu, Dan; Schnell, Knut; Schofield, Peter R.; Smith, Colin; Steen, Vidar M.; Sussmann, Jessika E.; Thalamuthu, Anbupalam; Toga, Arthur W.; Traynor, Bryan J.; Troncoso, Juan; Turner, Jessica A.; Valdés Hernández, Maria C.; van ’t Ent, Dennis; van der Brug, Marcel; van der Wee, Nic J. A.; van Tol, Marie-Jose; Veltman, Dick J.; Wassink, Thomas H.; Westman, Eric; Zielke, Ronald H.; Zonderman, Alan B.; Ashbrook, David G.; Hager, Reinmar; Lu, Lu; McMahon, Francis J.; Morris, Derek W.; Williams, Robert W.; Brunner, Han G.; Buckner, Randy L.; Buitelaar, Jan K.; Cahn, Wiepke; Calhoun, Vince D.; Cavalleri, Gianpiero L.; Crespo-Facorro, Benedicto; Dale, Anders M.; Davies, Gareth E.; Delanty, Norman; Depondt, Chantal; Djurovic, Srdjan; Drevets, Wayne C.; Espeseth, Thomas; Gollub, Randy L.; Ho, Beng-Choon; Hoffmann, Wolfgang; Hosten, Norbert; Kahn, René S.; Le Hellard, Stephanie; Meyer-Lindenberg, Andreas; Müller-Myhsok, Bertram; Nauck, Matthias; Nyberg, Lars; Pandolfo, Massimo; Penninx, Brenda W. J. H.; Roffman, Joshua L.; Sisodiya, Sanjay M.; Smoller, Jordan W.; van Bokhoven, Hans; van Haren, Neeltje E. M.; Völzke, Henry; Walter, Henrik; Weiner, Michael W.; Wen, Wei; White, Tonya; Agartz, Ingrid; Andreassen, Ole A.; Blangero, John; Boomsma, Dorret I.; Brouwer, Rachel M.; Cannon, Dara M.; Cookson, Mark R.; de Geus, Eco J. C.; Deary, Ian J.; Donohoe, Gary; Fernández, Guillén; Fisher, Simon E.; Francks, Clyde; Glahn, David C.; Grabe, Hans J.; Gruber, Oliver; Hardy, John; Hashimoto, Ryota; Hulshoff Pol, Hilleke E.; Jönsson, Erik G.; Kloszewska, Iwona; Lovestone, Simon; Mattay, Venkata S.; Mecocci, Patrizia; McDonald, Colm; McIntosh, Andrew M.; Ophoff, Roel A.; Paus, Tomas; Pausova, Zdenka; Ryten, Mina; Sachdev, Perminder S.; Saykin, Andrew J.; Simmons, Andy; Singleton, Andrew; Soininen, Hilkka; Wardlaw, Joanna M.; Weale, Michael E.; Weinberger, Daniel R.; Adams, Hieab H. H.; Launer, Lenore J.; Seiler, Stephan; Schmidt, Reinhold; Chauhan, Ganesh; Satizabal, Claudia L.; Becker, James T.; Yanek, Lisa; van der Lee, Sven J.; Ebling, Maritza; Fischl, Bruce; Longstreth, W. T.; Greve, Douglas; Schmidt, Helena; Nyquist, Paul; Vinke, Louis N.; van Duijn, Cornelia M.; Xue, Luting; Mazoyer, Bernard; Bis, Joshua C.; Gudnason, Vilmundur; Seshadri, Sudha; Ikram, M. Arfan; Martin, Nicholas G.; Wright, Margaret J.; Schumann, Gunter; Franke, Barbara; Thompson, Paul M.; Medland, Sarah E.

    2015-01-01

    The highly complex structure of the human brain is strongly shaped by genetic influences1. Subcortical brain regions form circuits with cortical areas to coordinate movement2, learning, memory3 and motivation4, and altered circuits can lead to abnormal behaviour and disease2. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume5 and intracranial volume6. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10−33; 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability inhuman brain development, and may help to determine mechanisms of neuropsychiatric dysfunction. PMID:25607358

  20. DSA analysis of the normal and variant hepatic arterial anatomy

    International Nuclear Information System (INIS)

    Lv Penghua; Wang Jie; Shi Haibing; Feng Yaoliang; Chen Huizhu; Chen Yuqin

    2005-01-01

    Objective: To observe and analyze the normal and variant hepatic arterial anatomy by DSA. Methods: One thousand and two hundreds patients with routine celiac and/or selective hepatic arteriography from November 1994 to March 2003 were retrospectively analyzed, some of them were further simultaneously undergone superior mesenteric arteriography, left gastric arteriography or inferior phrenic arteriography etc. Results: 873 (72.8%) patients had the standard hepatic arterial anatomy. 156(13.0%) patients had variant left hepatic arteries (LHAs), 120(10.0%) with variant right hepatic arteries (RHAs) and 21 (1.8%) of a variant anatomy involving both LHA and RHA. The common hepatic artery (CHA) of 1170 (97.5%) patients originated from the celiac artery. 92.0% proper hepatic artery (PHA) was the direct extension of CHA. The RHA was mainly (89.8%) derived from the PHA. There was some variation of the middle hepatic artery (MHA) with more than 62.2% arising from the LHA. The LHA was derived from the PHA (44.6%) or the RHA(30.2%) or other arteries (25.2%). Conclusions: The knowledge of normal and variant anatomy of hepatic vasculature by DSA may be very helpful for intervention therapy and hepatosurgery. (authors)

  1. Osteoporose em caprinos

    Directory of Open Access Journals (Sweden)

    Fábio B. Rosa

    2013-04-01

    Full Text Available Foi realizado um estudo de casos de osteoporose em caprinos provenientes de uma propriedade na área de abrangência do LPV-UFSM, determinando a epidemiologia, o quadro clínico-patológico e discutindo os prováveis mecanismos patogenéticos. Cinco cabras, fêmeas, SRD, de seis meses a seis anos de idade foram afetadas. As cabras eram mantidas em campo nativo, sem suplementação com ração e sob superlotação. Os principais sinais clínicos foram emagrecimento, dificuldade de locomoção e permanência em decúbito por longos períodos. As principais alterações macroscópicas nos ossos examinados foram vistas nas superfícies de corte e caracterizavam-se por depleção do osso esponjoso (porosidade e redução acentuada da espessura do osso cortical. Havia também marcada atrofia serosa da gordura da medula óssea. Microscopicamente, nas regiões avaliadas (úmero proximal, rádio distal, fêmur distal, tíbia proximal e corpos das vértebras lombares foi observada redução moderada a acentuada do número e da espessura das trabéculas ósseas nas epífises e metáfises dos ossos longos e nos corpos vertebrais. Os achados clínico-patológicos indicaram que a osteoporose observada provavelmente foi causada pela desnutrição. As alterações ósseas (diminuição no número e na espessura das trabéculas do osso esponjoso sugerem que ambos os mecanismos, má formação óssea e reabsorção óssea aumentada, contribuíram para a ocorrência de osteoporose nos caprinos deste estudo.

  2. Four Novel Cellulose Synthase (CESA Genes from <em>Birch> (<em>Betula platyphylla em>Suk. Involved in Primary and Secondary Cell Wall Biosynthesis

    Directory of Open Access Journals (Sweden)

    Xuemei Liu

    2012-09-01

    Full Text Available Cellulose synthase (CESA, which is an essential catalyst for the generation of plant cell wall biomass, is mainly encoded by the <em>CesA> gene family that contains ten or more members. In this study; four full-length cDNAs encoding CESA were isolated from<em> Betula platyphyllaem> Suk., which is an important timber species, using RT-PCR combined with the RACE method and were named as <em>BplCesA3em>, <em>−4em>,> −7 em>and> −8em>. These deduced CESAs contained the same typical domains and regions as their <em>Arabidopsis> homologs. The cDNA lengths differed among these four genes, as did the locations of the various protein domains inferred from the deduced amino acid sequences, which shared amino acid sequence identities ranging from only 63.8% to 70.5%. Real-time RT-PCR showed that all four <em>BplCesAs> were expressed at different levels in diverse tissues. Results indicated that BplCESA8 might be involved in secondary cell wall biosynthesis and floral development. BplCESA3 appeared in a unique expression pattern and was possibly involved in primary cell wall biosynthesis and seed development; it might also be related to the homogalacturonan synthesis. BplCESA7 and BplCESA4 may be related to the formation of a cellulose synthase complex and participate mainly in secondary cell wall biosynthesis. The extremely low expression abundance of the four BplCESAs in mature pollen suggested very little involvement of them in mature pollen formation in <em>Betula>. The distinct expression pattern of the four <em>BplCesAs> suggested they might participate in developments of various tissues and that they are possibly controlled by distinct mechanisms in <em>Betula.>

  3. Family studies to find rare high risk variants in migraine

    DEFF Research Database (Denmark)

    Hansen, Rikke Dyhr; Christensen, Anne Francke; Olesen, Jes

    2017-01-01

    genetic variants with bigger effect size may be involved in the disease. Since migraine has a tendency to cluster in families, a family approach might be the way to find these variants. This is also indicated by identification of migraine-associated loci in classical linkage-analyses in migraine families....... A single migraine study using a candidate-gene approach was performed in 2010 identifying a rare mutation in the TRESK potassium channel segregating in a large family with migraine with aura, but this finding has later become questioned. The technologies of next-generation sequencing (NGS) now provides...... an affordable tool to investigate the genetic variation in the entire exome or genome. The family-based study design using NGS is described in this paper. We also review family studies using NGS that have been successful in finding rare variants in other common complex diseases in order to argue the promising...

  4. Arrhythmogenic KCNE gene variants: current knowledge and future challenges

    Directory of Open Access Journals (Sweden)

    Shawn M Crump

    2014-01-01

    Full Text Available There are twenty-five known inherited cardiac arrhythmia susceptibility genes, all of which encode either ion channel pore-forming subunits or proteins that regulate aspects of ion channel biology such as function, trafficking and localization. The human KCNE gene family comprises five potassium channel regulatory subunits, sequence variants in each of which are associated with cardiac arrhythmias. KCNE gene products exhibit promiscuous partnering and in some cases ubiquitous expression, hampering efforts to unequivocally correlate each gene to specific native potassium currents. Likewise, deducing the molecular etiology of cardiac arrhythmias in individuals harboring rare KCNE gene variants, or more common KCNE polymorphisms, can be challenging. In this review we provide an update on putative arrhythmia-causing KCNE gene variants, and discuss current thinking and future challenges in the study of molecular mechanisms of KCNE-associated cardiac rhythm disturbances.

  5. Dandy-Walker variant in Coffin-Siris syndrome.

    Science.gov (United States)

    Imai, T; Hattori, H; Miyazaki, M; Higuchi, Y; Adachi, S; Nakahata, T

    2001-04-22

    We describe a five-month-old male infant with Coffin-Siris syndrome, the so-called Dandy-Walker variant (hypoplasia of the cerebellar vermis with cystic dilatation of the fourth ventricle, but without enlargement of the posterior fossa), and partial agenesis of the corpus callosum. Dandy-Walker malformation and mega cisterna magna, but not Dandy-Walker variant, have been reported in Coffin-Siris syndrome. The presence of Dandy-Walker variant in the infant we described confirms that the full continuum of the Dandy-Walker complex can occur in Coffin-Siris syndrome. The yet unidentified gene(s) for the syndrome may be related to the development of the hindbrain. Copyright 2001 Wiley-Liss, Inc.

  6. PCSK9 genetic variants and risk of type 2 diabetes

    DEFF Research Database (Denmark)

    Schmidt, Amand F; Swerdlow, Daniel I; Holmes, Michael V

    2017-01-01

    used data from cohort studies, randomised controlled trials, case control studies, and genetic consortia to estimate associations of PCSK9 genetic variants with LDL cholesterol, fasting blood glucose, HbA1c, fasting insulin, bodyweight, waist-to-hip ratio, BMI, and risk of type 2 diabetes, using...... diabetes, which in no way offsets their substantial benefits. We sought to investigate the associations of LDL cholesterol-lowering PCSK9 variants with type 2 diabetes and related biomarkers to gauge the likely effects of PCSK9 inhibitors on diabetes risk. METHODS: In this mendelian randomisation study, we...... a standardised analysis plan, meta-analyses, and weighted gene-centric scores. FINDINGS: Data were available for more than 550 000 individuals and 51 623 cases of type 2 diabetes. Combined analyses of four independent PCSK9 variants (rs11583680, rs11591147, rs2479409, and rs11206510) scaled to 1 mmol/L lower LDL...

  7. <em>N>-Substituted 5-Chloro-6-phenylpyridazin-3(2<em>H>-ones: Synthesis, Insecticidal Activity Against <em>Plutella xylostella em>(L. and SAR Study

    Directory of Open Access Journals (Sweden)

    Song Yang

    2012-08-01

    Full Text Available A series of <em>N>-substituted 5-chloro-6-phenylpyridazin-3(2<em>H>-one derivatives were synthesized based on our previous work; all compounds were characterized by spectral data and tested for <em>in vitroem> insecticidal activity against <em>Plutella xylostellaem>. The results showed that the synthesized pyridazin-3(2<em>H>-one compounds possessed good insecticidal activities, especially the compounds 4b, 4d, and 4h which showed > 90% activity at 100 mg/L. The structure-activity relationships (SAR for these compounds were also discussed.

  8. Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study.

    Science.gov (United States)

    Balendra, Rubika; Uphill, James; Collinson, Claire; Druyeh, Ronald; Adamson, Gary; Hummerich, Holger; Zerr, Inga; Gambetti, Pierluigi; Collinge, John; Mead, Simon

    2016-04-07

    Human prion diseases are relentlessly progressive neurodegenerative disorders which include sporadic Creutzfeldt-Jakob disease (sCJD) and variant CJD (vCJD). Aside from variants of the prion protein gene (PRNP) replicated association at genome-wide levels of significance has proven elusive. A recent association study identified variants in or near to the PLCXD3 gene locus as strong disease risk factors in multiple human prion diseases. This study claimed the first non-PRNP locus to be highly significantly associated with prion disease in genomic studies. A sub-study of a genome-wide association study with imputation aiming to replicate the finding at PLCXD3 including 129 vCJD and 2500 sCJD samples. Whole exome sequencing to identify rare coding variants of PLCXD3. Imputation of relevant polymorphisms was accurate based on wet genotyping of a sample. We found no supportive evidence that PLCXD3 variants are associated with disease. The marked discordance in vCJD genotype frequencies between studies, despite extensive overlap in vCJD cases, and the finding of Hardy-Weinberg disequilibrium in the original study, suggests possible reasons for the discrepancies between studies.

  9. Irmandade afetada pela atrofia muscular peroneal de Charcot-Marie-Tooth com possível variante do fenômeno da antecipação

    Directory of Open Access Journals (Sweden)

    Aguinaldo Gonçalves

    1977-06-01

    Full Text Available Considerando-se a peculiaridade genética da atrofia peroneal de Charcot-Marie-Tooth, é feita a descrição clínica de família com três irmãos afetados, com idade de aparecimento progressivamente antecipada, refletindo possível variante do fenômeno da antecipação, condição inusitada na literatura, não só para esta doença, mas também, de modo geral, em Genética Humana.

  10. INDICADORES EM SANEAMENTO

    OpenAIRE

    Costa, Samuel Alves Barbi; Côrtes, Larissa Silveira; Coelho Netto, Taiana; Freitas Junior, Moacyr Moreira de

    2016-01-01

    Este artigo se propõe a analisar a evolução dos prestadores de serviços de saneamento do estado de MinasGerais entre os anos de 2005 e 2010 com base nos indicadores do Sistema Nacional de Informações em Saneamento(SNIS). Foram definidos parâmetros técnicos para a análise dos indicadores, classificados os resultados como satisfatórios(verdes) ou insatisfatórios (vermelhos). Esta categorização atende a concepção da Regulação Sunshine, trazendo à tona omonitoramento do progresso das ações no set...

  11. Em favor da talassografia

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    Jean-Louis Boudou

    2001-01-01

    Full Text Available A Talassografia (“descrição do mar” interessa-sepelos impactos físicos, biológicos, ecológicos... culturais da violenta antropização dos ambientes costeiros (oceânicos e continentais, caracterizados pelaexigüidade, vulnerabilidade, fragilidade e plasticidade. Como o Brasil é um “país marítimo”, os geó-grafos (os talassógrafos brasileiros são convidadosa intensificar suas pesquisas nas áreas costeiras e acriar novas estruturas para divulgá-las: Revista, Encontros, Associação, Pós-Graduação... tudo em prolda talassografia.

  12. Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

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    A. Dessa Sadovnick

    2016-07-01

    Full Text Available Multiple sclerosis (MS is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D in plasminogen (PLG as a putative genetic risk factor for MS. Genotyping of PLG p.G420D (rs139071351 in 2160 MS patients, and 886 controls from Canada, identified 10 additional probands, two sporadic patients and one control with the variant. Segregation in families harboring the rs139071351 variant, identified p.G420D in 26 out of 30 family members diagnosed with MS, 14 unaffected parents, and 12 out of 30 family members not diagnosed with disease. Despite considerably reduced penetrance, linkage analysis supports cosegregation of PLG p.G420D and disease. Genotyping of PLG p.G420D in 14446 patients, and 8797 controls from Canada, France, Spain, Germany, Belgium, and Austria failed to identify significant association with disease (P = 0.117, despite an overall higher prevalence in patients (OR = 1.32; 95% CI = 0.93–1.87. To assess whether additional rare variants have an effect on MS risk, we sequenced PLG in 293 probands, and genotyped all rare variants in cases and controls. This analysis identified nine rare missense variants, and although three of them were exclusively observed in MS patients, segregation does not support pathogenicity. PLG is a plausible biological candidate for MS owing to its involvement in immune system response, blood-brain barrier permeability, and myelin degradation. Moreover, components of its activation cascade have been shown to present increased activity or expression in MS patients compared to controls; further studies are needed to clarify whether PLG is involved in MS susceptibility.

  13. CEACAM6 gene variants in inflammatory bowel disease.

    Science.gov (United States)

    Glas, Jürgen; Seiderer, Julia; Fries, Christoph; Tillack, Cornelia; Pfennig, Simone; Weidinger, Maria; Beigel, Florian; Olszak, Torsten; Lass, Ulrich; Göke, Burkhard; Ochsenkühn, Thomas; Wolf, Christiane; Lohse, Peter; Müller-Myhsok, Bertram; Diegelmann, Julia; Czamara, Darina; Brand, Stephan

    2011-04-29

    The carcinoembryonic antigen-related cell adhesion molecule 6 (CEACAM6) acts as a receptor for adherent-invasive E. coli (AIEC) and its ileal expression is increased in patients with Crohn's disease (CD). Given its contribution to the pathogenesis of CD, we aimed to investigate the role of genetic variants in the CEACAM6 region in patients with inflammatory bowel diseases (IBD). In this study, a total of 2,683 genomic DNA samples (including DNA from 858 CD patients, 475 patients with ulcerative colitis (UC), and 1,350 healthy, unrelated controls) was analyzed for eight CEACAM6 SNPs (rs10415946, rs1805223 = p.Pro42Pro, rs4803507, rs4803508, rs11548735 = p.Gly239Val, rs7246116 = pHis260His, rs2701, rs10416839). In addition, a detailed haplotype analysis and genotype-phenotype analysis were performed. Overall, our genotype analysis did not reveal any significant association of the investigated CEACAM6 SNPs and haplotypes with CD or UC susceptibility, although certain CEACAM6 SNPs modulated CEACAM6 expression in intestinal epithelial cell lines. Despite its function as receptor of AIEC in ileal CD, we found no association of the CEACAM6 SNPs with ileal or ileocolonic CD. Moreover, there was no evidence of epistasis between the analyzed CEACAM6 variants and the main CD-associated NOD2, IL23R and ATG16L1 variants. This study represents the first detailed analysis of CEACAM6 variants in IBD patients. Despite its important role in bacterial attachment in ileal CD, we could not demonstrate a role for CEACAM6 variants in IBD susceptibility or regarding an ileal CD phenotype. Further functional studies are required to analyze if these gene variants modulate ileal bacterial attachment.

  14. Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

    Science.gov (United States)

    Sadovnick, A. Dessa; Traboulsee, Anthony L.; Bernales, Cecily Q.; Ross, Jay P.; Forwell, Amanda L.; Yee, Irene M.; Guillot-Noel, Lena; Fontaine, Bertrand; Cournu-Rebeix, Isabelle; Alcina, Antonio; Fedetz, Maria; Izquierdo, Guillermo; Matesanz, Fuencisla; Hilven, Kelly; Dubois, Bénédicte; Goris, An; Astobiza, Ianire; Alloza, Iraide; Antigüedad, Alfredo; Vandenbroeck, Koen; Akkad, Denis A.; Aktas, Orhan; Blaschke, Paul; Buttmann, Mathias; Chan, Andrew; Epplen, Joerg T.; Gerdes, Lisa-Ann; Kroner, Antje; Kubisch, Christian; Kümpfel, Tania; Lohse, Peter; Rieckmann, Peter; Zettl, Uwe K.; Zipp, Frauke; Bertram, Lars; Lill, Christina M; Fernandez, Oscar; Urbaneja, Patricia; Leyva, Laura; Alvarez-Cermeño, Jose Carlos; Arroyo, Rafael; Garagorri, Aroa M.; García-Martínez, Angel; Villar, Luisa M.; Urcelay, Elena; Malhotra, Sunny; Montalban, Xavier; Comabella, Manuel; Berger, Thomas; Fazekas, Franz; Reindl, Markus; Schmied, Mascha C.; Zimprich, Alexander; Vilariño-Güell, Carles

    2016-01-01

    Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) as a putative genetic risk factor for MS. Genotyping of PLG p.G420D (rs139071351) in 2160 MS patients, and 886 controls from Canada, identified 10 additional probands, two sporadic patients and one control with the variant. Segregation in families harboring the rs139071351 variant, identified p.G420D in 26 out of 30 family members diagnosed with MS, 14 unaffected parents, and 12 out of 30 family members not diagnosed with disease. Despite considerably reduced penetrance, linkage analysis supports cosegregation of PLG p.G420D and disease. Genotyping of PLG p.G420D in 14446 patients, and 8797 controls from Canada, France, Spain, Germany, Belgium, and Austria failed to identify significant association with disease (P = 0.117), despite an overall higher prevalence in patients (OR = 1.32; 95% CI = 0.93–1.87). To assess whether additional rare variants have an effect on MS risk, we sequenced PLG in 293 probands, and genotyped all rare variants in cases and controls. This analysis identified nine rare missense variants, and although three of them were exclusively observed in MS patients, segregation does not support pathogenicity. PLG is a plausible biological candidate for MS owing to its involvement in immune system response, blood-brain barrier permeability, and myelin degradation. Moreover, components of its activation cascade have been shown to present increased activity or expression in MS patients compared to controls; further studies are needed to clarify whether PLG is involved in MS susceptibility. PMID:27194806

  15. CEACAM6 gene variants in inflammatory bowel disease.

    Directory of Open Access Journals (Sweden)

    Jürgen Glas

    Full Text Available BACKGROUND: The carcinoembryonic antigen-related cell adhesion molecule 6 (CEACAM6 acts as a receptor for adherent-invasive E. coli (AIEC and its ileal expression is increased in patients with Crohn's disease (CD. Given its contribution to the pathogenesis of CD, we aimed to investigate the role of genetic variants in the CEACAM6 region in patients with inflammatory bowel diseases (IBD. METHODOLOGY: In this study, a total of 2,683 genomic DNA samples (including DNA from 858 CD patients, 475 patients with ulcerative colitis (UC, and 1,350 healthy, unrelated controls was analyzed for eight CEACAM6 SNPs (rs10415946, rs1805223 = p.Pro42Pro, rs4803507, rs4803508, rs11548735 = p.Gly239Val, rs7246116 = pHis260His, rs2701, rs10416839. In addition, a detailed haplotype analysis and genotype-phenotype analysis were performed. Overall, our genotype analysis did not reveal any significant association of the investigated CEACAM6 SNPs and haplotypes with CD or UC susceptibility, although certain CEACAM6 SNPs modulated CEACAM6 expression in intestinal epithelial cell lines. Despite its function as receptor of AIEC in ileal CD, we found no association of the CEACAM6 SNPs with ileal or ileocolonic CD. Moreover, there was no evidence of epistasis between the analyzed CEACAM6 variants and the main CD-associated NOD2, IL23R and ATG16L1 variants. CONCLUSIONS: This study represents the first detailed analysis of CEACAM6 variants in IBD patients. Despite its important role in bacterial attachment in ileal CD, we could not demonstrate a role for CEACAM6 variants in IBD susceptibility or regarding an ileal CD phenotype. Further functional studies are required to analyze if these gene variants modulate ileal bacterial attachment.

  16. Perforating pilomatrixoma showing atypical presentation: A rare clinical variant

    Directory of Open Access Journals (Sweden)

    Nevra Seyhan

    2018-03-01

    Full Text Available Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a rare benign skin tumor arising from hair follicle stem cells. The most common localization is the head and neck region. Female/male ratio is 3/2. It shows deep subcutaneous placement and occurs in the first two decades of life. Its diameter ranges from 0.5 cm to 3 cm. Multiple lesions are rarely seen. Histopathologically it is characterized by basoloid and ghost cells. Perforating type is a rare clinical variant. Treatment is surgical excision. Our case is presented to draw attention to a rare clinical variant of pilomatrixioma.

  17. Complexity on Acute Myeloid Leukemia mRNA Transcript Variant

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    Carlo Cattani

    2011-01-01

    Full Text Available This paper deals with the sequence analysis of acute myeloid leukemia mRNA. Six transcript variants of mlf1 mRNA, with more than 2000 bps, are analyzed by focusing on the autocorrelation of each distribution. Through the correlation matrix, some patches and similarities are singled out and commented, with respect to similar distributions. The comparison of Kolmogorov fractal dimension will be also given in order to classify the six variants. The existence of a fractal shape, patterns, and symmetries are discussed as well.

  18. Diffuse sclerosing variant of papillary thyroid carcinoma: case report

    International Nuclear Information System (INIS)

    Lee, Seung Chan; Kim, Dong Wook

    2006-01-01

    Diffuse sclerosing papillary carcinoma (DSPC) is a variant of papillary thyroid carcinoma (PTC), but it shows more aggressive clinical course and a poorer prognosis than the other types of PTC. Most PTCs show a focal nodular pattern in the thyroid on the imaging modalities, but DSPC reveals a diffuse infiltrating configuration in the thyroid without any focal nodular lesion. To our knowledge, there are scant radiological reports of diffuse sclerosing variant of papillary thyroid carcinoma. In this report, we present the case of a patient with DSPC who showed the characteristic findings on sonography and computed tomography

  19. Identifying genetic variants that affect viability in large cohorts.

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    Hakhamanesh Mostafavi

    2017-09-01

    Full Text Available A number of open questions in human evolutionary genetics would become tractable if we were able to directly measure evolutionary fitness. As a step towards this goal, we developed a method to examine whether individual genetic variants, or sets of genetic variants, currently influence viability. The approach consists in testing whether the frequency of an allele varies across ages, accounting for variation in ancestry. We applied it to the Genetic Epidemiology Research on Adult Health and Aging (GERA cohort and to the parents of participants in the UK Biobank. Across the genome, we found only a few common variants with large effects on age-specific mortality: tagging the APOE ε4 allele and near CHRNA3. These results suggest that when large, even late-onset effects are kept at low frequency by purifying selection. Testing viability effects of sets of genetic variants that jointly influence 1 of 42 traits, we detected a number of strong signals. In participants of the UK Biobank of British ancestry, we found that variants that delay puberty timing are associated with a longer parental life span (P~6.2 × 10-6 for fathers and P~2.0 × 10-3 for mothers, consistent with epidemiological studies. Similarly, variants associated with later age at first birth are associated with a longer maternal life span (P~1.4 × 10-3. Signals are also observed for variants influencing cholesterol levels, risk of coronary artery disease (CAD, body mass index, as well as risk of asthma. These signals exhibit consistent effects in the GERA cohort and among participants of the UK Biobank of non-British ancestry. We also found marked differences between males and females, most notably at the CHRNA3 locus, and variants associated with risk of CAD and cholesterol levels. Beyond our findings, the analysis serves as a proof of principle for how upcoming biomedical data sets can be used to learn about selection effects in contemporary humans.

  20. Nonparaxial and paraxial focusing of azimuthal-variant vector beams.

    Science.gov (United States)

    Gu, Bing; Cui, Yiping

    2012-07-30

    Based on the vectorial Rayleigh-Sommerfeld formulas under the weak nonparaxial approximation, we investigate the propagation behavior of a lowest-order Laguerre-Gaussian beam with azimuthal-variant states of polarization. We present the analytical expressions for the radial, azimuthal, and longitudinal components of the electric field with an arbitrary integer topological charge m focused by a nonaperturing thin lens. We illustrate the three-dimensional optical intensities, energy flux distributions, beam waists, and focal shifts of the focused azimuthal-variant vector beams under the nonparaxial and paraxial approximations.

  1. Beam manipulating by metallic nano-slits with variant widths.

    Science.gov (United States)

    Shi, Haofei; Wang, Changtao; Du, Chunlei; Luo, Xiangang; Dong, Xiaochun; Gao, Hongtao

    2005-09-05

    A novel method is proposed to manipulate beam by modulating light phase through a metallic film with arrayed nano-slits, which have constant depth but variant widths. The slits transport electro-magnetic energy in the form of surface plasmon polaritons (SPPs) in nanometric waveguides and provide desired phase retardations of beam manipulating with variant phase propagation constant. Numerical simulation of an illustrative lens design example is performed through finite-difference time-domain (FDTD) method and shows agreement with theory analysis result. In addition, extraordinary optical transmission of SPPs through sub-wavelength metallic slits is observed in the simulation and helps to improve elements' energy using factor.

  2. Efeitos celulares da variante polimórfica Ala-9Val da MnSOD humana sobre o estresse oxidativo durante o processo infeccioso : estudo in vitro

    OpenAIRE

    Francis Jackson de Oliveira Paludo

    2013-01-01

    A compreensão da fisiologia e dos mecanismos moleculares da sepse tem sido foco de muitos estudos. As infecções severas, como a sepse, são responsáveis por 10% do total de mortes registradas em Unidades de Tratamento Intensivo em todo o mundo. O desfecho da sepse ocorre devido a influência de fatores ambientais e genéticos, cuja expressão de variantes genéticas suportam ou não este desfecho. Muitos mecanismos estão envolvidos na sepse, incluindo a liberação de citocinas e a ativação de neutró...

  3. INFLUÊNCIA ESTOICA NA CONCEPÇÃO DE <em>STATUS> E <em>DICTUM> COMO <em> QUASI RES EM> (ὡσανεì τινά EM ABERLARDO STOIC INFLUENCE IN ABELARD'S CONCEPTION OF <em>STATUS> AND <em>DICTUM> AS <em>QUASI RESem> (ὡσανεì τινά.

    Directory of Open Access Journals (Sweden)

    Guy Hamelin

    2011-09-01

    Full Text Available Na sua obra, Pedro Abelardo (1079-1142 destaca duas noções metafísicas que fundamentam sua teoria lógica: o <em style="mso-bidi-font-style: normal;">statusem> e o <em style="mso-bidi-font-style: normal;">dictum propositionisem>, ao causar, respectivamente, a imposição (<em style="mso-bidi-font-style: normal;">impositioem> dos termos universais e o valor de verdade das proposições. Trata-se de expressões que se referem a naturezas ontológicas peculiares, na medida em que não são consideradas coisas (<em style="mso-bidi-font-style: normal;">resem>, mesmo que constituem causas. Todavia, também não são nada. Abelardo as chama de ‘quase coisas’ (<em style="mso-bidi-font-style: normal;">quasi resem>. No presente artigo, explicamos, primeiro, essas duas noções essenciais da lógica abelardiana, antes de tentar, em seguida, encontrar a fonte dessa metafísica particular. Em oposição a comentadores importantes da lógica de Abelardo, que estimam que haja uma forte influência platônica sobre essa concepção específica, defendemos antes, com apoio de textos significativos e de acordo com o nominalismo abelardiano, que a maior ascendência sobre a metafísica do nosso autor é a do estoicismo, sobretudo, antigo.In his work, Peter Abelard (1079-1142 highlights two metaphysical notions, which sustain his logical theory: the <em>status> and the <em>dictum propositionisem>, causing respectively both the imposition (<em>impositio> of universal terms and the thuth-value of propositions. Both expressions refer to peculiar ontological natures, in so far as they are not considered things (<em>res>, even if they constitute causes. Nevertheless, neither are they ‘nothing’. Abelard calls them ‘quasi-things’ (<em>quasi resem>. In the present article, we expound first these two essential notions of Abelardian logic before then trying to find the source of this particular metaphysics. Contrary to some important

  4. Comprehensive genotyping in dyslipidemia: mendelian dyslipidemias caused by rare variants and Mendelian randomization studies using common variants.

    Science.gov (United States)

    Tada, Hayato; Kawashiri, Masa-Aki; Yamagishi, Masakazu

    2017-04-01

    Dyslipidemias, especially hyper-low-density lipoprotein cholesterolemia and hypertriglyceridemia, are important causal risk factors for coronary artery disease. Comprehensive genotyping using the 'next-generation sequencing' technique has facilitated the investigation of Mendelian dyslipidemias, in addition to Mendelian randomization studies using common genetic variants associated with plasma lipids and coronary artery disease. The beneficial effects of low-density lipoprotein cholesterol-lowering therapies on coronary artery disease have been verified by many randomized controlled trials over the years, and subsequent genetic studies have supported these findings. More recently, Mendelian randomization studies have preceded randomized controlled trials. When the on-target/off-target effects of rare variants and common variants exhibit the same direction, novel drugs targeting molecules identified by investigations of rare Mendelian lipid disorders could be promising. Such a strategy could aid in the search for drug discovery seeds other than those for dyslipidemias.

  5. Ploidia de DNA em astrocitomas: estudo em 66 pacientes brasileiros

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    KRUTMAN-ZVEIBIL DEBORAH

    1999-01-01

    Full Text Available A determinação do conteúdo de DNA nuclear (fração de fase S e ploidia de DNA foi realizada por meio de análise de imagem em 66 astrocitomas, a partir de material fixado em formalina e seccionado em cortes de 5 micrômetros corados pela técnica de Feulgen. Nossos resultados mostraram forte relação entre a idade do paciente, grau histológico e sobrevida , com a ploidia de DNA e o percentual de células em fase de síntese. A análise da atividade proliferativa de astrocitomas intracranianos é a nosso ver muito útil no entendimento do comportamento biológico , do prognóstico e para o planejamento terapêutico dessas lesões.

  6. Acute splenic sequestration in a pregnant woman with homozygous sickle-cell anemia Sequestro esplênico agudo em uma mulher grávida com anemia falciforme homozigótica

    Directory of Open Access Journals (Sweden)

    Carolina Bastos Maia

    2013-04-01

    Full Text Available CONTEXT Homozygous (SS sickle-cell anemia complicated by acute splenic sequestration in adults is a rare event, and it has never been reported during pregnancy. CASE REPORT A 25-year-old woman with homozygous (SS sickle-cell disease was hospitalized at 32 weeks' of gestation presenting weakness, abdominal pain, fever and hemoglobin of 2.4 g/dl. Abnormal fetal heart rate was detected by means of cardiotocography, and 5 units of packed red cells were transfused. Cesarean was performed at 37 weeks. Both mother and baby were discharged in a good general condition. CONCLUSION This case report demonstrates the importance of immediate blood transfusion for treatment of fetal distress in cases of splenic sequestration during pregnancy. This treatment is essential for avoiding maternal and fetal complications. CONTEXTO Anemia falciforme homozigótica (SS complicada por sequestro esplênico agudo em adultos é evento raro, e nunca foi relatado durante a gravidez. RELATO DO CASO Uma mulher de 25 anos, portadora de doença falciforme homozigótica (SS, com 32 semanas de gestação, foi internada apresentando fraqueza, dor abdominal, febre e hemoglobina de 2,4 g/dl. Frequência cardíaca fetal anormal foi detectada pela cardiotocografia e a paciente recebeu 5 unidades de concentrado de hemácias. Cesariana foi realizada com 37 semanas. Mãe e filho receberam alta em bom estado geral. CONCLUSÃO Este relato de caso demonstra a importância da transfusão imediata para o tratamento de sofrimento fetal nos casos de sequestro esplênico durante a gestação. Este tratamento é imprescindível para se evitarem complicações maternas e fetais.

  7. Anemia ferropriva em populações da região sul do Estado de São Paulo Iron deficiency anaemia in populations of the Southern area of the State of S. Paulo, Brazil

    Directory of Open Access Journals (Sweden)

    Sophia Cornblüth Szarfarc

    1972-06-01

    Full Text Available Foi feito um levantamento da ocorrência de anemia ferropriva no Vale do Ribeira, nas localidades de Iguape, Apiaí, Ribeira, Barra do Chapéu e Pontal do Ribeira, através de dosagens, no sangue, de Hemoglobina, Hematócrito, Ferro sérico e Capacidade de Ligação de Ferro. Na mesma amostra populacional, pelo estudo da composição dos alimentos consumidos, foi obtida a ingestão de ferro, média, diária, "per capita" nas seis localidades referidas. Os resultados da adequação de consumo foram: em Iguape, 91%; Pontal do Ribeira, 63%; Icapara, 81%; Apiaí, 122%; Ribeira, 99% e em Barra do Chapéu, 125%. Através dos índices aplicados, evidenciou-se a existência de anemia como problema de Saúde Pública na grande maioria das áreas estudadas.A study of iron deficiency anaemia in seaside and mountain population of the southern area of the state of S. Paulo, Brazil, was carried out. The towns studies were, Iguape, Pontal do Ribeira, Icapara, Apiai, Ribeira and Barra do Chapeu. Studying the composition of food-stuff consumed a "per capita" average iron consumption was stablished for each town. Results showed that consumption of iron in Iguape was 91% of minimum needs, Pontal do Ribeira, 63%, Icapara, 81%, Apiai, 122%, Ribeira, 99% and Barra do Chapeu, 125%. It was found that in most localities iron deficiency anaemia constitutes a public health problem.

  8. Efeito do sítio de venopunção nos parâmetros hematológicos em tigre-d'água-americano, Trachemys scripta elegans

    Directory of Open Access Journals (Sweden)

    Nina C. Medeiros

    2012-12-01

    Full Text Available O objetivo do presente estudo foi realizar a comparação entre dois sítios de coleta sanguínea em 24 exemplares de tigre-d'água-americano (Trachemys scripta elegans oriundos de um criadouro comercial, localizado no município de Antonina, litoral do Paraná, Brasil. Os animais foram submetidos a contenção física e as venopunções foram realizadas no seio supraocciptal e na veia coccígea dorsal. As amostras heparinizadas foram identificadas e refrigeradas para posterior análise laboratorial. A contagem total de eritrócitos e leucócitos foi realizada pela técnica de hemocitometria. O hematócrito (Ht e a hemoglobina (Hb foram determinados pelo método de microhematócrito e cianometahemoglobina, respectivamente. A proteína plasmática total (PPT foi determinada por refratometria e a contagem diferencial de leucócitos foi realizada através da técnica de Shilling. Houve diferença significativa no número de leucócitos e no valor da proteína plasmática total, e em ambos os casos os valores encontrados nas amostras provenientes da veia coccígea dorsal foram inferiores. A diferença encontrada no número de leucócitos provavelmente foi devido à contaminação por linfa, que também justifica o menor valor na concentração da proteína plasmática total. Conclui-se que é mais indicada a venopunção no seio supraocciptal quando comparado a veia coccígea dorsal.

  9. Biochemical characteristics of glucose-6-phosphate dehydrogenase variants among the Malays of Singapore with report of a new non-deficient (GdSingapore) and three deficient variants.

    Science.gov (United States)

    Saha, N; Hong, S H; Wong, H A; Jeyaseelan, K; Tay, J S

    1991-12-01

    Biochemical characteristics of one non-deficient fast G6PD variant (GdSingapore) and six different deficient variants (three new, two Mahidol, one each of Indonesian and Mediterranean) were studied among the Malays of Singapore. The GdSingapore variant had normal enzyme activity (82%) and fast electrophoretic mobilities (140% in TEB buffer, 160% in phosphate and 140% in Tris-HCl buffer systems respectively). This variant is further characterized by normal Km for G6P; utilization of analogues (Gal6P, 2dG6P; dAmNADP), heat stability and pH optimum. The other six deficient G6PD variants had normal electrophoretic mobility in TEB buffer with enzyme activities ranging from 1 to 12% of GdB+. The biochemical characteristics identity them to be 2 Mahidol, 1 Indonesian and 1 Mediterranean variants and three new deficient variants.

  10. Detecting very low allele fraction variants using targeted DNA sequencing and a novel molecular barcode-aware variant caller.

    Science.gov (United States)

    Xu, Chang; Nezami Ranjbar, Mohammad R; Wu, Zhong; DiCarlo, John; Wang, Yexun

    2017-01-03

    Detection of DNA mutations at very low allele fractions with high accuracy will significantly improve the effectiveness of precision medicine for cancer patients. To achieve this goal through next generation sequencing, researchers need a detection method that 1) captures rare mutation-containing DNA fragments efficiently in the mix of abundant wild-type DNA; 2) sequences the DNA library extensively to deep coverage; and 3) distinguishes low level true variants from amplification and sequencing errors with high accuracy. Targeted enrichment using PCR primers provides researchers with a convenient way to achieve deep sequencing for a small, yet most relevant region using benchtop sequencers. Molecular barcoding (or indexing) provides a unique solution for reducing sequencing artifacts analytically. Although different molecular barcoding schemes have been reported in recent literature, most variant calling has been done on limited targets, using simple custom scripts. The analytical performance of barcode-aware variant calling can be significantly improved by incorporating advanced statistical models. We present here a highly efficient, simple and scalable enrichment protocol that integrates molecular barcodes in multiplex PCR amplification. In addition, we developed smCounter, an open source, generic, barcode-aware variant caller based on a Bayesian probabilistic model. smCounter was optimized and benchmarked on two independent read sets with SNVs and indels at 5 and 1% allele fractions. Variants were called with very good sensitivity and specificity within coding regions. We demonstrated that we can accurately detect somatic mutations with allele fractions as low as 1% in coding regions using our enrichment protocol and variant caller.

  11. Busca de estruturas em grandes escalas em altos redshifts

    Science.gov (United States)

    Boris, N. V.; Sodré, L., Jr.; Cypriano, E.

    2003-08-01

    A busca por estruturas em grandes escalas (aglomerados de galáxias, por exemplo) é um ativo tópico de pesquisas hoje em dia, pois a detecção de um único aglomerado em altos redshifts pode por vínculos fortes sobre os modelos cosmológicos. Neste projeto estamos fazendo uma busca de estruturas distantes em campos contendo pares de quasares próximos entre si em z Â3 0.9. Os pares de quasares foram extraídos do catálogo de Véron-Cetty & Véron (2001) e estão sendo observados com os telescópios: 2,2m da University of Hawaii (UH), 2,5m do Observatório de Las Campanas e com o GEMINI. Apresentamos aqui a análise preliminar de um par de quasares observado nos filtros i'(7800 Å) e z'(9500 Å) com o GEMINI. A cor (i'-z') mostrou-se útil para detectar objetos "early-type" em redshifts menores que 1.1. No estudo do par 131046+0006/J131055+0008, com redshift ~ 0.9, o uso deste método possibilitou a detecção de sete objetos candidatos a galáxias "early-type". Num mapa da distribuição projetada dos objetos para 22 escala. Um outro argumento em favor dessa hipótese é que eles obedecem uma relação do tipo Kormendy (raio equivalente X brilho superficial dentro desse raio), como a apresentada pelas galáxias elípticas em z = 0.

  12. Hidroxiuréia em pacientes com síndromes falciformes acompanhados no Hospital Hemope, Recife, Brasil Hydroxyurea in sickle cell disease patients in Recife, Brazil

    Directory of Open Access Journals (Sweden)

    Flavia M. G. C. Bandeira

    2004-01-01

    Full Text Available O uso de hidroxiuréia promove a elevação dos níveis de hemoglobina fetal (Hb F em pacientes portadores de síndromes falciformes (SF e o medicamento vem sendo estudado em vários grupos de pacientes, incluindo adultos e crianças. O presente trabalho analisou a eficácia e tolerabilidade do uso de hidroxiuréia em crianças na faixa etária entre 5 e 17 anos de idade e em adultos jovens acima de 18 anos, portadores de hemoglobinopatia SS ou Sbeta0 que foram acompanhados regularmente no ambulatório do Hospital Hemope. Os pacientes pediátricos foram tratados com dose inicial de hidroxiuréia de 10 mg/kg/dia, a qual era aumentada em 5 mg/kg por dia em intervalos de oito semanas, até a dose máxima de 25 mg/kg/dia. Para os adultos, o tratamento foi iniciado com 500 mg/dia de hidroxiuréia até a dose máxima de 1g/dia. Foi observada redução do número de crises álgicas assim como do número de internações hospitalares, elevação do nível de Hb F e do Volume Corpuscular Médio, no grupo pediátrico. Entre os pacientes maiores de 18 anos, também se observou melhora clínica e significância estatística com aumento dos valores da hemoglobina e redução dos valores de reticulócitos, leucócitos e plaquetas. Não foram observados sinais ou sintomas sugestivos de toxicidade medicamentosa em ambos os grupos. O uso de hidroxiuréia em todos os pacientes parece ser seguro e eficaz e assegura melhora da qualidade de vida e benefícios a seus familiares. Ademais, as doses preconizadas de hidroxiuréia aparentemente não foram mielotóxicas, não tendo sido necessária a suspensão do tratamento em nenhum dos pacientes.The use of hydroxyurea increases concentrations of fetal hemoglobin (Hb F in sickle cell disease patients. It has been used in adults and in trials with children with the aim of preventing events such as episodes of pain or stokes. The objective of this study was to analyze the efficacy and side effects of Hydroxyurea in

  13. <em>Manne/mange> - to sider af samme sag

    DEFF Research Database (Denmark)

    Jensen, Anette

    2009-01-01

    At pronominet og adjektivet mange udtales forskelligt i danske dialekter er vist ikke ukendt for de fleste danske dialektologer. Artikelen gør nærmere rede for hvordan lydformerne fordeler sig geografisk på de to hovedformer som er -ng-formen mange og -n-formen manne med varianter, og derefter ser...

  14. Extraction of Dihydroquercetin<em> em>from <em>Larix gmeliniem>i> em>with Ultrasound-Assisted and Microwave-Assisted Alternant Digestion

    Directory of Open Access Journals (Sweden)

    Yuangang Zu

    2012-07-01

    Full Text Available An ultrasound and microwave assisted alternant extraction method (UMAE was applied for extracting dihydroquercetin (DHQ from <em>Larix gmeliniem>i> wood. This investigation was conducted using 60% ethanol as solvent, 1:12 solid to liquid ratio, and 3 h soaking time. The optimum treatment time was ultrasound 40 min, microwave 20 min, respectively, and the extraction was performed once. Under the optimized conditions, satisfactory extraction yield of the target analyte was obtained. Relative to ultrasound-assisted or microwave-assisted method, the proposed approach provides higher extraction yield. The effect of DHQ of different concentrations and synthetic antioxidants on oxidative stability in soy bean oil stored for 20 days at different temperatures (25 °C and 60 °C was compared. DHQ was more effective in restraining soy bean oil oxidation, and a dose-response relationship was observed. The antioxidant activity of DHQ was a little stronger than that of BHA and BHT. Soy bean oil supplemented with 0.08 mg/g DHQ exhibited favorable antioxidant effects and is preferable for effectively avoiding oxidation. The <em>L. gmeliniiem> wood samples before and after extraction were characterized by scanning electron microscopy. The results showed that the UMAE method is a simple and efficient technique for sample preparation.

  15. A population-specific uncommon variant in GRIN3A associated with schizophrenia.

    Science.gov (United States)

    Takata, Atsushi; Iwayama, Yoshimi; Fukuo, Yasuhisa; Ikeda, Masashi; Okochi, Tomo; Maekawa, Motoko; Toyota, Tomoko; Yamada, Kazuo; Hattori, Eiji; Ohnishi, Tetsuo; Toyoshima, Manabu; Ujike, Hiroshi; Inada, Toshiya; Kunugi, Hiroshi; Ozaki, Norio; Nanko, Shinichiro; Nakamura, Kazuhiko; Mori, Norio; Kanba, Shigenobu; Iwata, Nakao; Kato, Tadafumi; Yoshikawa, Takeo

    2013-03-15

    Genome-wide association studies have successfully identified several common variants showing robust association with schizophrenia. However, individually, these variants only produce a weak effect. To identify genetic variants with larger effect sizes, increasing attention is now being paid to uncommon and rare variants. From the 1000 Genomes Project data, we selected 47 candidate single nucleotide variants (SNVs), which were: 1) uncommon (minor allele frequency way to discover risk variants with larger effects. Copyright © 2013 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  16. Preferencia alimenticia del ácaro depredador <em>Balaustium> sp. en condiciones controladas

    Directory of Open Access Journals (Sweden)

    Muñoz Karen

    2009-04-01

    Full Text Available

    Se evaluó la preferencia de presas de <em>Balaustium> sp., enemigo natural de diferentes artrópodos plaga, y el cual es nativo de la Sabana de Bogotá. En unidades experimentales construidas con foliolos de plantas de rosa se colocaron independientemente individuos de <em>Balaustium> sp. y se registró el número de presas consumidas. De esta manera se determinó la preferencia de los tres estados móviles del ácaro depredador <em>Balaustium> sp. por diferentes edades de tres presas. Las especies y edades de las presas estudiadas fueron: huevos, ninfas y adultos de <em>Trialeurodes vaporariorumem>, huevos, ninfas y adultos de <em>Tetranychus urticaeem>, y larvas de primer y segundo instar y adultos de <em>Frankliniella occidentalisem>. Los estados menos desarrollados fueron preferidos, aunque se observó que los adultos del depredador tienen gran habilidad para consumir adultos de <em>T. vaporariorumem>. La presa preferida por las larvas de <em>Balaustium> sp. fue los huevos de <em>T. urticaeem> con una proporción de consumo de 0,54 de los huevos que se ofrecieron de esta presa; las deutoninfas del depredador eligieron huevos de <em>T. vaporariorumem> (0,537 o de <em>T. urticaeem> (0,497 y los adultos de <em>Balaustium> sp. prefrieron los huevos de <em>T. vaporariorumem> (0,588.

  17. Avaliação do estado nutricional de pacientes em diálise peritoneal ambulatorial contínua (DPAC = Evaluation of the nutritional status of patients in continuous ambulatory peritoneal dialysis (CAPD

    Directory of Open Access Journals (Sweden)

    Eloá Angélica Koehnlein

    2009-01-01

    Full Text Available Este estudo teve como objetivo avaliar o estado nutricional dos pacientes em DPAC. Foram selecionados 16 pacientes com idade entre 20 e 75 anos, nos quais foram realizadas Avaliação Nutricional Subjetiva Global modificada, avaliação antropométrica, bioquímica e da ingestão alimentar. O excesso de peso prevaleceu na população estudada,atingindo 68,75%, de acordo com o Índice de massa corporal. No entanto, a avaliação da área muscular do braço corrigida demonstrou que 62,5% dos homens apresentavam algum grau de desnutrição, o que não foi observado na população feminina. Os níveis médios deuréia, hemoglobina, hematócrito, potássio, fósforo, cálcio e produto cálcio/fósforo estavam dentro da normalidade para esses pacientes. A ingestão média de nutrientes estava adequada em energia, lipídeos, fósforo, ferro, potássio e ácido fólico; insuficiente em proteínas, fibras, cálcio e vitamina B6; e excessiva em carboidratos, sódio e vitaminas C e B12. Dessa forma, destaca-se que o acompanhamento nutricional é uma conduta de destaque nessa população, em virtude da elevada prevalência de distúrbios nutricionais e dietéticos.This study aimed to assess the nutritional status of patients in CAPD. Sixteen patients aged between 20 and 75 years were selected,which were submitted to a modified global subjective nutritional assessment, as well as anthropometric, biochemical and food intake evaluations. Excess weight prevailed in the study population, reaching 68.75% according to the body mass index. However, thecorrected evaluation of the arm muscle area showed that 62.5% of men had some degree of malnutrition, which was not observed in the female population. Mean levels of urea, hemoglobin, hematocrit, potassium, phosphorus, calcium and product calcium/phosphorus were within normal range for these patients. The average intake of nutrients was adequatein energy, lipids, phosphorus, iron, potassium and folic acid

  18. Haemoglobin variants among voluntary blood donors in Jos, Nigeria ...

    African Journals Online (AJOL)

    This study aimed to determine the haemoglobin variants among voluntary blood donors in Jos. METHOD: Records of the age, sex, Haemoglobin level, and the haemoglobin genotype of all voluntary blood donors who donated blood at the National Blood Transfusion Service Centre, Jos, Nigeria between January 2011 and ...

  19. Symplastic leiomyoma of uterus: a rare histological variant

    International Nuclear Information System (INIS)

    Yasmeen, F.; Hafeez, M.; Hameed, S.; Ibnerasa, S.N.

    2008-01-01

    Symplastic leiomyoma is a rare histological variant of leiomyoma. This is a case report of a young nulliparous patient who presented with primary infertility for 2 years and swelling in lower abdomen for 6 months. Intramural fibroid was diagnosed during a pelvic ultrasound. Histopathology of that myomectomy showed symplastic leiomyoma with absent mitotic figures. The patient was managed as for a benign tumor. (author)

  20. Clear Speech Variants: An Acoustic Study in Parkinson's Disease

    Science.gov (United States)

    Lam, Jennifer; Tjaden, Kris

    2016-01-01

    Purpose: The authors investigated how different variants of clear speech affect segmental and suprasegmental acoustic measures of speech in speakers with Parkinson's disease and a healthy control group. Method: A total of 14 participants with Parkinson's disease and 14 control participants served as speakers. Each speaker produced 18 different…

  1. A sibship with a mild variant of Zellweger syndrome

    NARCIS (Netherlands)

    Barth, P. G.; Schutgens, R. B.; Wanders, R. J.; Heymans, H. S.; Moser, A. E.; Moser, H. W.; Bleeker-Wagemakers, E. M.; Jansonius-Schultheiss, K.; Derix, M.; Nelck, G. F.

    1987-01-01

    A mild variant of Zellweger (cerebro-hepato-renal) syndrome was diagnosed in male and female siblings aged 7 and 2 years. They had mild facial dysmorphia, moderate psychomotor retardation, tapetoretinal degeneration, sensorineural deafness and hepatomegaly. Ultrastructural examination of a liver

  2. Combinations of Genetic Variants Occurring Exclusively in Patients

    DEFF Research Database (Denmark)

    Mellerup, Erling Thyge; Møller, Gert Lykke

    2017-01-01

    The main objective of the study was to find genetic variants that in combination are significantly associated with bipolar disorder. In previous studies of bipolar disorder, combinations of three and four single nucleotide polymorphisms (SNP) genotypes taken from 803 SNPs were analyzed, and five ...

  3. Late onset Pompe disease- new genetic variant: Case report ...

    African Journals Online (AJOL)

    The patient was not given enzyme replacement therapy due to cost but received high protein therapy and Oxygen supplementation using Oxygen extractor machine. She is worsening due to respiratory failure. Conclusion: This is a new genetic variant isolated of late-onset Pompe disease which presents with almost pure ...

  4. Abnormal haemoglobin variants, ABO and Rh blood groups among ...

    African Journals Online (AJOL)

    Background: Abnormal haemoglobin variants ( HbSS,AS,AC,SC,etc) have been known to be common among blacks. Patients with sickle cell disease are often faced with the risk of alloimmunization from allogeneic blood transfusion. Objectives: The study was designed to sample students population of African descents for ...

  5. FTO genetic variants, dietary intake and body mass index

    DEFF Research Database (Denmark)

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

    2014-01-01

    FTO is the strongest known genetic susceptibility locus for obesity. Experimental studies in animals suggest the potential roles of FTO in regulating food intake. The interactive relation among FTO variants, dietary intake and body mass index (BMI) is complex and results from previous often small...

  6. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

    Science.gov (United States)

    Johnston, Jennifer J; van der Smagt, Jasper J; Rosenfeld, Jill A; Pagnamenta, Alistair T; Alswaid, Abdulrahman; Baker, Eva H; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Dung, Vu Chi; Emrick, Lisa; Everman, David B; van Gassen, Koen L; Gulsuner, Suleyman; Harr, Margaret H; Jain, Mahim; Kuechler, Alma; Leppig, Kathleen A; McDonald-McGinn, Donna M; Can, Ngoc Thi Bich; Peleg, Amir; Roeder, Elizabeth R; Rogers, R Curtis; Sagi-Dain, Lena; Sapp, Julie C; Schäffer, Alejandro A; Schanze, Denny; Stewart, Helen; Taylor, Jenny C; Verbeek, Nienke E; Walkiewicz, Magdalena A; Zackai, Elaine H; Zweier, Christiane; Zenker, Martin; Lee, Brendan; Biesecker, Leslie G

    2018-02-22

    PurposeTo characterize the molecular genetics of autosomal recessive Noonan syndrome.MethodsFamilies underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used to identify variants. The molecular consequences of observed splice variants were evaluated by reverse-transcription polymerase chain reaction.ResultsTwelve families with a total of 23 affected children with features of Noonan syndrome were evaluated. The phenotypic range included mildly affected patients, but it was lethal in some, with cardiac disease and leukemia. All of the parents were unaffected. Linkage analysis using a recessive model supported a candidate region in chromosome 22q11, which includes LZTR1, previously shown to harbor mutations in patients with Noonan syndrome inherited in a dominant pattern. Sequencing analyses of 21 live-born patients and a stillbirth identified biallelic pathogenic variants in LZTR1, including putative loss-of-function, missense, and canonical and noncanonical splicing variants in the affected children, with heterozygous, clinically unaffected parents and heterozygous or normal genotypes in unaffected siblings.ConclusionThese clinical and genetic data confirm the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1.Genet Med advance online publication, 22 February 2018; doi:10.1038/gim.2017.249.

  7. Genetic variants in CETP increase risk of intracerebral hemorrhage

    NARCIS (Netherlands)

    Anderson, C.D.; Falcone, G.J.; Phuah, C.L.; Radmanesh, F.; Brouwers, H.B.; Battey, T.W.; Biffi, A.; Peloso, G.M.; Liu, D.J.; Ayres, A.M.; Goldstein, J.N.; Viswanathan, A.; Greenberg, S.M.; Selim, M.; Meschia, J.F.; Brown, D.L.; Worrall, B.B.; Silliman, S.L.; Tirschwell, D.L.; Flaherty, M.L.; Kraft, P.; Jagiella, J.M.; Schmidt, H.; Hansen, B.M.; Jimenez-Conde, J.; Giralt-Steinhauer, E.; Elosua, R.; Cuadrado-Godia, E.; Soriano, C.; Nieuwenhuizen, K.M. van; Klijn, C.J.M.; Rannikmae, K.; Samarasekera, N.; Salman, R.A.; Sudlow, C.L.; Deary, I.J.; Morotti, A.; Pezzini, A.; Pera, J.; Urbanik, A.; Pichler, A.; Enzinger, C.; Norrving, B.; Montaner, J.; Fernandez-Cadenas, I.; Delgado, P.; Roquer, J.; Lindgren, A.; Slowik, A.; Schmidt, R.; Kidwell, C.S.; Kittner, S.J.; Waddy, S.P.; Langefeld, C.D.; Abecasis, G.; Willer, C.J.; Kathiresan, S.; Woo, D.; Rosand, J.

    2016-01-01

    OBJECTIVE: In observational epidemiologic studies, higher plasma high-density lipoprotein cholesterol (HDL-C) has been associated with increased risk of intracerebral hemorrhage (ICH). DNA sequence variants that decrease cholesteryl ester transfer protein (CETP) gene activity increase plasma HDL-C;

  8. Genetic variants in CETP increase risk of intracerebral hemorrhage

    NARCIS (Netherlands)

    Anderson, Christopher D.; Falcone, Guido J.; Phuah, Chia Ling; Radmanesh, Farid; Brouwers, H. Bart; Battey, Thomas W K; Biffi, Alessandro; Peloso, Gina M.; Liu, Dajiang J.; Ayres, Alison M.; Goldstein, Joshua N.; Viswanathan, Anand; Greenberg, Steven M.; Selim, Magdy; Meschia, James F.; Brown, Devin L.; Worrall, Bradford B.; Silliman, Scott L.; Tirschwell, David L.; Flaherty, Matthew L.; Kraft, Peter; Jagiella, Jeremiasz M.; Schmidt, Helena; Hansen, Björn M.; Jimenez-Conde, Jordi; Giralt-Steinhauer, Eva; Elosua, Roberto; Cuadrado-Godia, Elisa; Soriano, Carolina; van Nieuwenhuizen, Koen M.; Klijn, Catharina J M; Rannikmae, Kristiina; Samarasekera, Neshika; Salman, Rustam Al Shahi; Sudlow, Catherine L.; Deary, Ian J.; Morotti, Andrea; Pezzini, Alessandro; Pera, Joanna; Urbanik, Andrzej; Pichler, Alexander; Enzinger, Christian; Norrving, Bo; Montaner, Joan; Fernandez-Cadenas, Israel; Delgado, Pilar; Roquer, Jaume; Lindgren, Arne; Slowik, Agnieszka; Schmidt, Reinhold; Kidwell, Chelsea S.; Kittner, Steven J.; Waddy, Salina P.; Langefeld, Carl D.; Abecasis, Goncalo; Willer, Cristen J.; Kathiresan, Sekar; Woo, Daniel; Rosand, Jonathan

    2016-01-01

    Objective: In observational epidemiologic studies, higher plasma high-density lipoprotein cholesterol (HDL-C) has been associated with increased risk of intracerebral hemorrhage (ICH). DNA sequence variants that decrease cholesteryl ester transfer protein (CETP) gene activity increase plasma HDL-C;

  9. Sequence variants of the LCORL gene and its association with ...

    Indian Academy of Sciences (India)

    Y. J. HAN

    [Han Y. J., Chen Y., Liu Y. and Liu X. L. 2017 Sequence variants of the LCORL gene and its association with growth and carcass traits in. Qinchuan cattle in China. J. Genet. 96, xx–xx]. Introduction. Genetically selecting is a better way to satisfy the growing customer requirement with the development of beef cattle industry ...

  10. Antigen Loss Variants: Catching Hold of Escaping Foes.

    Science.gov (United States)

    Vyas, Maulik; Müller, Rolf; Pogge von Strandmann, Elke

    2017-01-01

    Since mid-1990s, the field of cancer immunotherapy has seen steady growth and selected immunotherapies are now a routine and preferred therapeutic option of certain malignancies. Both active and passive cancer immunotherapies exploit the fact that tumor cells express specific antigens on the cell surface, thereby mounting an immune response specifically against malignant cells. It is well established that cancer cells typically lose surface antigens following natural or therapy-induced selective pressure and these antigen-loss variants are often the population that causes therapy-resistant relapse. CD19 and CD20 antigen loss in acute lymphocytic leukemia and chronic lymphocytic leukemia, respectively, and lineage switching in leukemia associated with mixed lineage leukemia (MLL) gene rearrangements are well-documented evidences in this regard. Although increasing number of novel immunotherapies are being developed, majority of these do not address the control of antigen loss variants. Here, we review the occurrence of antigen loss variants in leukemia and discuss the therapeutic strategies to tackle the same. We also present an approach of dual-targeting immunoligand effectively retargeting NK cells against antigen loss variants in MLL-associated leukemia. Novel immunotherapies simultaneously targeting more than one tumor antigen certainly hold promise to completely eradicate tumor and prevent therapy-resistant relapses.

  11. Two new splice variants in porcine PPARGC1A

    Directory of Open Access Journals (Sweden)

    Peelman Luc J

    2008-12-01

    Full Text Available Abstract Background Peroxisome proliferator-activated receptor γ coactivator 1α (PPARGC1A is a coactivator with a vital and central role in fat and energy metabolism. It is considered to be a candidate gene for meat quality in pigs and is involved in the development of obesity and diabetes in humans. How its many functions are regulated, is however still largely unclear. Therefore a transcription profile of PPARGC1A in 32 tissues and 4 embryonic developmental stages in the pig was constructed by screening its cDNA for possible splice variants with exon-spanning primers. Findings This led to the discovery of 2 new splice variants in the pig, which were subsequently also detected in human tissues. In these variants, exon 8 was either completely or partly (the last 66 bp were conserved spliced out, potentially coding for a much shorter protein of respectively 337 and 359 amino acids (aa, of which the first 291 aa would be the same compared to the complete protein (796 aa. Conclusion Considering the functional domains of the PPARGC1A protein, it is very likely these splice variants considerably affect the function of the protein and alternative splicing could be one of the mechanisms by which the diverse functions of PPARGC1A are regulated.

  12. Novel Parvovirus and Related Variant in Human Plasma

    Science.gov (United States)

    Fryer, Jacqueline F.; Kapoor, Amit; Minor, Philip D.; Delwart, Eric

    2006-01-01

    We report a novel parvovirus (PARV4) and related variants in pooled human plasma used in the manufacture of plasma-derived medical products. Viral DNA was detected by using highly selective polymerase chain reaction assays; 5% of pools tested positive, and amounts of DNA ranged from 106 copies/mL plasma. PMID:16494735

  13. Mutation update: the spectra of nebulin variants and associated myopathies

    NARCIS (Netherlands)

    Lehtokari, Vilma-Lotta; Kiiski, Kirsi; Sandaradura, Sarah A.; Laporte, Jocelyn; Repo, Pauliina; Frey, Jennifer A.; Donner, Kati; Marttila, Minttu; Saunders, Carol; Barth, Peter G.; den Dunnen, Johan T.; Beggs, Alan H.; Clarke, Nigel F.; North, Kathryn N.; Laing, Nigel G.; Romero, Norma B.; Winder, Thomas L.; Pelin, Katarina; Wallgren-Pettersson, Carina

    2014-01-01

    A mutation update on the nebulin gene (NEB) is necessary because of recent developments in analysis methodology, the identification of increasing numbers and novel types of variants, and a widening in the spectrum of clinical and histological phenotypes associated with this gigantic, 183 exons

  14. Micromechanics of transformation-induced plasticity and variant coalescence

    International Nuclear Information System (INIS)

    Marketz, F.; Fischer, F.D.; University for Mining and Metallurgy, Leoben; Tanaka, K.

    1996-01-01

    Quantitative micromechanics descriptions of both transformation-induced plasticity (TRIP) associated with the martensitic transformation in an Fe-Ni alloy and of variant coalescence in a Cu-Al-Ni shape memory alloy are presented. The macroscopic deformation behavior of a polycrystalline aggregate as a result of the rearrangements within the crystallites is modelled with the help of a finite element based periodic microfield approach. In the case of TRIP the parent→martensite transformation is described by microscale thermodynamic and kinetic equations taking into account internal stress states. The simulation of a classical experiment on TRIP allows to quantify the Magee-effect and the Greenwood-Johnson effect. Furthermore, the development of the martensitic microstructure is studied with respect to the stress-assisted transformation of preferred variants. In the case of variant coalescence the strain energy due to internal stress states has an important influence on the mechanical behavior. Formulating the reorientation process on the size scale of self-accommodating plate groups in terms of the mobility of the boundaries between martensitic variants the macroscopic behavior in uniaxial tension is predicted by an incremental modelling procedure. Furthermore, influence of energy dissipation on the overall behavior is quantified. (orig.)

  15. Physical localization of NORs and ITS length variants in old ...

    Indian Academy of Sciences (India)

    [Carvalho A., Guedes-Pinto H. and Lima-Brito J. 2011 Physical localization of NORs and ITS length variants in old Portuguese durum wheat cultivars. J. Genet. ... With the present study, we intend to determine the physical localization and ..... Crosby A. R. 1957 Nucleolar activity of lagging chromosomes in wheat. Am. J. Bot.

  16. Systematic identification of regulatory variants associated with cancer risk.

    Science.gov (United States)

    Liu, Song; Liu, Yuwen; Zhang, Qin; Wu, Jiayu; Liang, Junbo; Yu, Shan; Wei, Gong-Hong; White, Kevin P; Wang, Xiaoyue

    2017-10-23

    Most cancer risk-associated single nucleotide polymorphisms (SNPs) identified by genome-wide association studies (GWAS) are noncoding and it is challenging to assess their functional impacts. To systematically identify the SNPs that affect gene expression by modulating activities of distal regulatory elements, we adapt the self-transcribing active regulatory region sequencing (STARR-seq) strategy, a high-throughput technique to functionally quantify enhancer activities. From 10,673 SNPs linked with 996 cancer risk-associated SNPs identified in previous GWAS studies, we identify 575 SNPs in the fragments that positively regulate gene expression, and 758 SNPs in the fragments with negative regulatory activities. Among them, 70 variants are regulatory variants for which the two alleles confer different regulatory activities. We analyze in depth two regulatory variants-breast cancer risk SNP rs11055880 and leukemia risk-associated SNP rs12142375-and demonstrate their endogenous regulatory activities on expression of ATF7IP and PDE4B genes, respectively, using a CRISPR-Cas9 approach. By identifying regulatory variants associated with cancer susceptibility and studying their molecular functions, we hope to help the interpretation of GWAS results and provide improved information for cancer risk assessment.

  17. Disintegrating perineal disease: A variant of watering-can perineum

    African Journals Online (AJOL)

    N. Abrol

    www.ees.elsevier.com/afju · www.sciencedirect.com. Case report. Disintegrating perineal disease: A variant of watering-can perineum. N. Abrol. ∗. , A. Devasia. Department of Urology, Christian Medical College, Vellore, India. Received 11 January 2014; received in revised form 11 January 2014; accepted 11 March 2014.

  18. The Role of Constitutional Copy Number Variants in Breast Cancer

    Science.gov (United States)

    Walker, Logan C.; Wiggins, George A.R.; Pearson, John F.

    2015-01-01

    Constitutional copy number variants (CNVs) include inherited and de novo deviations from a diploid state at a defined genomic region. These variants contribute significantly to genetic variation and disease in humans, including breast cancer susceptibility. Identification of genetic risk factors for breast cancer in recent years has been dominated by the use of genome-wide technologies, such as single nucleotide polymorphism (SNP)-arrays, with a significant focus on single nucleotide variants. To date, these large datasets have been underutilised for generating genome-wide CNV profiles despite offering a massive resource for assessing the contribution of these structural variants to breast cancer risk. Technical challenges remain in determining the location and distribution of CNVs across the human genome due to the accuracy of computational prediction algorithms and resolution of the array data. Moreover, better methods are required for interpreting the functional effect of newly discovered CNVs. In this review, we explore current and future application of SNP array technology to assess rare and common CNVs in association with breast cancer risk in humans. PMID:27600231

  19. 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 ...

  20. Impaired Interoceptive Accuracy in Semantic Variant Primary Progressive Aphasia

    Directory of Open Access Journals (Sweden)

    Charles R. Marshall

    2017-11-01

    Full Text Available BackgroundInteroception (the perception of internal bodily sensations is strongly linked to emotional experience and sensitivity to the emotions of others in healthy subjects. Interoceptive impairment may contribute to the profound socioemotional symptoms that characterize frontotemporal dementia (FTD syndromes, but remains poorly defined.MethodsPatients representing all major FTD syndromes and healthy age-matched controls performed a heartbeat counting task as a measure of interoceptive accuracy. In addition, patients had volumetric MRI for voxel-based morphometric analysis, and their caregivers completed a questionnaire assessing patients’ daily-life sensitivity to the emotions of others.ResultsInteroceptive accuracy was impaired in patients with semantic variant primary progressive aphasia relative to healthy age-matched individuals, but not in behavioral variant frontotemporal dementia and nonfluent variant primary progressive aphasia. Impaired interoceptive accuracy correlated with reduced daily-life emotional sensitivity across the patient cohort, and with atrophy of right insula, cingulate, and amygdala on voxel-based morphometry in the impaired semantic variant group, delineating a network previously shown to support interoceptive processing in the healthy brain.ConclusionInteroception is a promising novel paradigm for defining mechanisms of reduced emotional reactivity, empathy, and self-awareness in neurodegenerative syndromes and may yield objective measures for these complex symptoms.