Zygosity Diagnosis in the Absence of Genotypic Data: An Approach Using Latent Class Analysis

For zygosity diagnosis in the absence of genotypic data, or in the recruitment phase of a twin study where only single twins from same-sex pairs are being screened, or to provide a test for sample duplication leading to the false identification of a dizygotic pair as monozygotic, the appropriate analysis of respondents' answers to questions about zygosity is critical. Using data from a young adult Australian twin cohort (N = 2094 complete pairs and 519 singleton twins from same-sex pairs with complete responses to all zygosity items), we show that application of latent class analysis (LCA), fitting a 2-class model, yields results that show good concordance with traditional methods of zygosity diagnosis, but with certain important advantages. These include the ability, in many cases, to assign zygosity with specified probability on the basis of responses of a single informant (advantageous when one zygosity type is being oversampled); and the ability to quantify the probability of misassignment of zygosity, allowing prioritization of cases for genotyping as well as identification of cases of probable laboratory error. Out of 242 twins (from 121 like-sex pairs) where genotypic data were available for zygosity confirmation, only a single case was identified of incorrect zygosity assignment by the latent class algorithm. Zygosity assignment for that single case was identified by the LCA as uncertain (probability of being a monozygotic twin only 76%), and the co-twin's responses clearly identified the pair as dizygotic (probability of being dizygotic 100%). In the absence of genotypic data, or as a safeguard against sample duplication, application of LCA for zygosity assignment or confirmation is strongly recommended.

Dizygotic twinning is not associated with methylenetetrahydrofolate reductase haplotypes

Background: Folate metabolism is critical to embryonic development, influencing neural tube defects (NTD) and recurrent early pregnancy loss. Polymorphisms in 5,10-methylenetetrahydrofolate reductase (MTHFR) have been associated with dizygotic (DZ) twinning through pregnancy loss. Methods: The C677T and A1298C polymorphisms in MTHFR were genotyped in 258 Australasian families (1016 individuals) and 118 Dutch families (462 individuals) of mothers of DZ twins and a population sample of 462 adolescent twin families (1861 individuals). Haplotypes were constructed from the alleles, and transmission of the MTHFR haplotypes to mothers of DZ twins and from parents to twins in the adolescent twin families analysed. Results: The C677T and A1298C were common in all three populations (frequencies > 0.29). There was strong linkage disequilibrium (D'=1) between the variants, showing that specific combinations of alleles (haplotypes) were transmitted together. Three haplotypes accounted for nearly all the variation. There was no evidence of any association between MTHFR genotype and twinning in mothers of twins, or of the loss of specific MTHFR genotypes during twin pregnancies. Conclusions: It is concluded that variation in twinning frequency is not associated with MTHFR genotype.

Direction of Causation Modeling Between Cross-Sectional Measures of Parenting and Psychological Distress in Female Twins

Under certain conditions, cross-sectional analysis of cross-twin intertrait correlations can provide important information about the direction of causation (DOC) between two variables. A community-based sample of Australian female twins aged 18 to 45 years was mailed an extensive Health and Lifestyle Questionnaire (HLQ) that covered a wide range of personality and behavioral measures. Included were self-report measures of recent psychological distress and perceived childhood environment (PBI). Factor analysis of the PBI yielded three interpretable dimensions: Coldness, Overprotection, and Autonomy. Univariate analysis revealed that parental Overprotection and Autonomy were best explained by additive genetic, shared, and nonshared environmental effects (ACE), whereas the best-fitting model for PBI Coldness and the three measures of psychological distress (Depression, Phobic Anxiety, and Somatic Distress) included only additive genetic and nonshared environmental effects (AE). A common pathway model best explained the covariation between (1) the three PBI dimensions and (2) the three measures of psychological distress. DOC modeling between latent constructs of parenting and psychological distress revealed that a model which specified recollected parental behavior as the cause of psychological distress provided a better fit than a model which specified psychological distress as the cause of recollected parental behavior. Power analyses and limitations of the findings are discussed.

Relative importance of female-specific and non-female-specific effects on variation in iron stores between women

Women have lower iron stores than men because of iron loss during their reproductive years. However, variation between women could result from differences in iron loss, aspects of iron homeostasis common to men and women, or a combination of both. We compared the effects of age, menopause, menstrual blood loss and the number of pregnancies (sex-specific factors), and the effects of genetic variation, on markers of iron stores. We assessed how much the same genes or other familial factors influence iron status in both men and women. Data from 2039 female twins who participated in studies of reproductive health and iron status were used to estimate the proportions of variation that could be ascribed to genes, environment and measured factors. Significant effects of age, menopausal status and magnitude of menstrual blood loss were demonstrated, accounting for up to 18% of variance in serum ferritin in this sample, but number of children had no significant effect. Genetic effects were more than twice as great as sex-specific effects. The within-pair similarity of ferritin values in dizygotic female twin pairs was greater than for dizygotic opposite-sex pairs, but this difference was not quite significant, consistent with a minor role for sex-specific factors; and the opposite-sex within-pair differences did not diminish significantly with age. We conclude that the contribution of genetic differences between women to variation in iron stores outweighs the comparatively small effects of interindividual variation in iron loss through variation in menstruation and number of pregnancies.

Evidence for a QTL on chromosome 19 influencing LDL cholesterol levels in the general population

The genetic basis of cardiovascular disease (CVD) with its complex etiology is still largely elusive. Plasma levels of lipids and apolipoproteins are among the major quantitative risk factors for CVD and are well-established intermediate traits that may be more accessible to genetic dissection than clinical CVD end points. Chromosome 19 harbors multiple genes that have been suggested to play a role in lipid metabolism and previous studies indicated the presence of a quantitative trait locus (QTL) for cholesterol levels in genetic isolates. To establish the relevance of genetic variation at chromosome 19 for plasma levels of lipids and apolipoproteins in the general, out-bred Caucasian population, we performed a linkage study in four independent samples, including adolescent Dutch twins and adult Dutch, Swedish and Australian twins totaling 493 dizygotic twin pairs. The average spacing of short-tandem-repeat markers was 6 - 8 cM. In the three adult twin samples, we found consistent evidence for linkage of chromosome 19 with LDL cholesterol levels ( maximum LOD scores of 4.5, 1.7 and 2.1 in the Dutch, Swedish and Australian sample, respectively); no indication for linkage was observed in the adolescent Dutch twin sample. The QTL effects in the three adult samples were not significantly different and a simultaneous analysis of the samples increased the maximum LOD score to 5.7 at 60 cM pter. Bivariate analyses indicated that the putative LDL-C QTL also contributed to the variance in ApoB levels, consistent with the high genetic correlation between these phenotypes. Our study provides strong evidence for the presence of a QTL on chromosome 19 with a major effect on LDL-C plasma levels in outbred Caucasian populations.

Effect of fatigue on torque output and electromyographic measures of trunk muscles during isometric axial rotation

Objectives: To examine the changes in torque output resulting from fatigue, as well as changes in electromyographic measures of trunk muscles during isometric axial rotation and to compare these changes between directions of axial rotation. Design: Subjects performed fatiguing right and left isometric axial rotation of the trunk at 80% of maximum voluntary contraction while standing upright. Setting: A rehabilitation center. Participants: Twenty-three men with no history of back pain. Interventions: Not applicable. Main Outcome Measures: Surface electromyographic Signals were recorded from 6 trunk muscles bilaterally. The primary torque in the transverse plane and the coupling torques in sagittal and coronal planes were also measured. Results: During the fatiguing axial rotation contraction, coupling torques of both sagittal and coronal planes were slightly decreased and no difference was found between directions of axial rotation. Decreasing median frequency and an increase in electromyographic amplitude were also found in trunk muscles with different degrees of changes in individual muscles. There were significant differences (P

Reliability of electromyographic and torque measures during isometric axial rotation exertions of the trunk

Objective: The aim of the present study was to investigate the between-days reliability of electromyographic (EMG) measurement of 6 bilateral trunk muscles and also the torque output in 3 planes during isometric right and left axial rotation at different exertion levels. Methods: Ten healthy subjects performed isometric right and left axial rotation at 100, 70, 50 and 30% maximum voluntary contractions in two testing sessions at least 7 days apart. EMG amplitude and frequency analyses of the recorded surface EMG signals were performed for rectus abdominis, external oblique, internal oblique, latissimus dorsi, iliocostalis lumborum and multifidus bilaterally. The primary torque in the transverse plane and the coupling torques in sagittal and coronal planes were measured. Results: For both EMG amplitude and frequency values, good (intraclass correlation coefficient, ICC = 0.75-0.89) to excellent (ICC greater than or equal to 0.90) reliability was found in the 6 trunk muscles at different exertion levels during axial rotation. The reliability of both maximal isometric axial rotation torque and coupling torques in sagittal and coronal planes were found to be excellent (ICC greater than or equal to 0.93). Conclusions: Good to excellent reliability of EMG measures of trunk muscles and torque measurements during isometric axial rotation was demonstrated. This provides further confidence of using EMG and triaxial torque assessment as outcome measures in rehabilitation and in the evaluation of the human performance in the work place. (C) 2003 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

Normal values for pelvic organ descent in health nulligravid young caucasian women

Translabial ultrasound is increasingly being used for the assessment of women presenting with pelvic floor dysfunction and incontinence (1,2). However, there is little information on normal values for bladder neck descent, with the two available studies disagreeing widely (3,4). No data has so far been published on mobility of the central and posterior compartment which can now also be assessed by ultrasound (5). This study presents normal values for urethral, bladder, cervical and rectal mobility in a cohort of young, stress continent, nulliparous nonpregnant women. Methods 118 nonpregnant nulliparous Caucasian women between 18 and 23 years of age were recruited for an ongoing twin study of pelvic floor function. Translabial ultrasound assessment of pelvic organ mobility was undertaken supine and after bladder emptying (6,7). The best of at least three effective Valsalva manoeuvres was used for evaluation, with no attempts at standardization of Valsalva pressure. Parameters of anterior compartment mobility were obtained by the use of on-screen calipers; cervical and rectal descent were evaluated on printouts. All examinations were carried out under direct supervision of the first author or by personnel trained by him for at least 100 consecutive assessments. Results The median age of participants in this study was 20 (range 18- 23). Mean body mass index was 23 (range 16.9- 36.7). Of 118 women, 2 were completely unable to perform a Valsalva manoeuvre despite repeated efforts at teaching and were excluded from analysis, as were ten women who complained of urinary stress incontinence, leaving 106 datasets. Average measurements for the parameters ‘retrovesical angle at rest’ (RVA-R) and on Valsalva (RVA-S), urethral rotation, bladder neck mobility, cysto-cele descent, cervical descent and descent of the rectal ampulla are given in Table 1.

Method for determining the shear stress in cylindrical systems

We develop a method for determining the elements of the pressure tensor at a radius r in a cylindrically symmetric system, analogous to the so-called method of planes used in planar systems [B. D. Todd, Denis J. Evans, and Peter J. Daivis, Phys. Rev. E 52, 1627 (1995)]. We demonstrate its application in determining the radial shear stress dependence during molecular dynamics simulations of the forced flow of methane in cylindrical silica mesopores. Such expressions are useful for the examination of constitutive relations in the context of transport in confined systems.

Balanced scorecard (BSC): uma vis??o metodol??gica para o acompanhamento de sua implementa????o

A Embrapa, na inten????o de operacionalizar a gest??o dos seus planos estrat??gicos (Plano Diretor da Embrapa ??? PDE e Planos Diretores das Unidades ??? PDUs) desenvolveu a metodologia Mogest para a implementa????o do seu Modelo de Gest??o Estrat??gica (MGE), no ??mbito corporativo e de suas 40 unidades de neg??cio, com base na modifica????o do m??todo Balanced Scorecard ??? BSC, de Kaplan. Posteriormente, ap??s a implementa????o dos MGEs, no per??odo de 1999 at?? os dias atuais, inicia-se e desenvolve-se a fase de acompanhamento por meio da elabora????o do m??todo MGE/Acompanha. Este trabalho aborda, de forma modificada, o uso do diagrama elaborado por Norton, apud Coutinho (2002), para acompanhar/avaliar a implementa????o do BSC para uma organiza????o orientada ?? estrat??gia, inserido no m??todo MGE/Acompanha (2000), elaborado pela Equipe MGE e aplicado em uma das unidades de neg??cio da Embrapa. Os resultados mostraram a efici??ncia do m??todo e proporcionaram a internaliza????o do conceito ???painel de bordo???, desenvolvido no software Oracle BSC (OBSC).

Transpar??ncia, monitoramento e avalia????o de programas no Brasil: em busca de opacidades que podem restringir o exerc??cio do controle social

A nova lei brasileira de acesso ?? informa????o estabeleceu um conjunto de defini????es, princ??pios e diretrizes voltado ?? promo????o da transpar??ncia e ?? viabiliza????o do exerc??cio do controle social sobre a a????o governamental. Segundo esta lei, os resultados dos programas do Plano Plurianual (PPA) fazem parte do conjunto de informa????es que precisam ser franqueadas aos cidad??os. Tais resultados s??o gerados a partir das regras da sistem??tica de monitoramento e avalia????o de programas que deve ser estabelecida no pr??prio PPA. Este trabalho objetiva analisar a ader??ncia desta sistem??tica ?? lei de acesso ?? informa????o, com a finalidade de suscitar o debate sobre a exist??ncia de certas opacidades que podem restringir o acompanhamento e a avalia????o da a????o governamental pela sociedade

O plano plurianual: resultados da mais recente reforma do planejamento e or??amento no Brasil

O artigo visa apresentar o debate acerca das transforma????es oriundas da ??ltima reforma do planejamento e or??amento no Brasil, a qual introduziu o novo desenho do Plano Plurianual (PPA). Inicialmente, os princ??pios do modelo de or??amento por resultados ou desempenho que balizaram a formula????o do novo PPA s??o discutidos. Com base nos planos de gest??o das experi??ncias recentes do Plano e na proposta do pr??ximo PPA (2008-2011), s??o apresentadas as inova????es da configura????o do processo or??ament??rio no pa??s. Por fim, o artigo aborda os avan??os e restri????es da implementa????o do novo desenho do PPA e conclui que, apesar de formalmente institu??dos, os instrumentos do or??amento por resultados n??o atingem a finalidade prec??pua do modelo: melhoria da efetividade e efici??ncia nos gastos p??blicos.

Legitimidade da lideran??a no Minist??rio da Sa??de: um ensaio

O presente artigo procura mostrar como a lideran??a dos dirigentes pode melhor conduzir os trabalhadores e como isso pode aprimorar o servi??o p??blico, com destaque para a ??rea da sa??de. Para isso, faz-se uma an??lise bibliogr??fica sobre as transforma????es da gest??o ocorridas no servi??o p??blico e no Brasil, bem como das rela????es de poder e lideran??a, e uma pesquisa qualitativa junto aos trabalhadores em ??reas administrativas do Minist??rio da Sa??de, em Bras??lia. A conclus??o deste trabalho ?? um convite ?? reflex??o sobre a intersec????o desses planos de estudo e o entendimento de que o gestor-l??der pode gerar melhoria no resultado produtivo do grupo e, por conseq????ncia, nos servi??os p??blicos prestados.

Pr??-equidade de g??nero: incorporando pol??ticas de a????o afirmativa no mundo do trabalho

A institui????o do Programa Pr??-equidade de G??nero ?? o reconhecimento p??blico da desigualdade de tratamento e de oportunidades, que ainda permanece entre mulheres e homens. A implementa????o ?? consolidada com a coloca????o em pr??tica dos planos de a????es firmados entre a Secretaria Especial de Pol??ticas para as Mulheres (SPM) e as organiza????es aderentes. A pesquisa explorat??ria teve como objetivo apresentar o programa e discuti-lo com base no modelo "policy cycle como aprendizado", de Silva e Melo (2000). Os resultados subsidiar??o pesquisa futura sobre a avalia????o do programa. Dentro da estrat??gia adotada, a coleta de dados ocorreu em documentos institucionais e dados bibliogr??ficos em mar??o de 2009, com o seguinte resultado: a avalia????o n??o trata de forma clara da efetividade e da sustentabilidade do programa. Este trabalho est?? dividido em seis partes: descri????o do m??todo utilizado; apresenta????o do Programa Pro-equidade de G??nero; avalia????o de suas duas primeiras edi????es; breve contextualiza????o das pol??ticas p??blicas no Brasil e o modelo "policy cicle como aprendizado"; rela????es entre o programa e o modelo; e considera????es finais.