The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies

FISH has been used as a complement to classical cytogenetics in the detection of mosaicism in sex chromosome anomalies. The aim of this study is to describe three cases in which the final diagnosis could only be achieved by FISH. Case 1 was an 8-year-old 46,XY girl with normal female genitalia referred to our service because of short stature. FISH analysis of lymphocytes with probes for the X and Y centromeres identified a 45,X/46,X,idic(Y) constitution, and established the diagnosis of Turner syndrome. Case 2 was a 21-month-old 46,XY boy with genital ambiguity (penile hypospadias, right testis, and left streak gonad). FISH analysis of lymphocytes and buccal smear identified a 45,X/46,XY karyotype, leading to diagnosis of mixed gonadal dysgenesis. Case 3 was a 47,XYY 19-year-old boy with delayed neuromotor development, learning disabilities, psychological problems, tall stature, small testes, elevated gonadotropins, and azoospermia. FISH analysis of lymphocytes and buccal smear identified a 47,XYY/48,XXYY constitution. Cases 1 and 2 illustrate the phenotypic variability of the 45,X/46,XY mosaicism, and the importance of detection of the 45,X cell line for proper management and follow-up. In case 3, abnormal gonadal function could be explained by the 48,XXYY cell line. The use of FISH in clinical practice is particularly relevant when classical cytogenetic analysis yields normal or uncertain results in patients with features of sex chromosome aneuploidy. Arq Bras Endocrinol Metab. 2012;56(8):545-51

Cultura de movimento e identidade : a Educação Fisica na contemporaneidade

Universidade Estadual de Campinas . Faculdade de Educação Física

Uma leitura da questão da deficiencia e da inclusão no ensino municipal de Hortolandia : olhares e ações da docencia de Educação Fisica e de seus pares

Universidade Estadual de Campinas . Faculdade de Educação Física

Mediação da professora generalista no trabalho corporal na educação infantil

Universidade Estadual de Campinas . Faculdade de Educação Física

A influencia do esporte espetaculo sobre o modelo de competição dos mais jovens no judo

Universidade Estadual de Campinas . Faculdade de Educação Física

Educação fisica, escola e cultura : o enredo das diferenças

Universidade Estadual de Campinas . Faculdade de Educação Física

A estimulação da inteligencia corporal cinestesica no contexto na educação fisica escolar

Universidade Estadual de Campinas. Faculdade de Educação Física

Da formação e desenvolvimento profissional do professor de educação fisica a inovação educativa

Universidade Estadual de Campinas . Faculdade de Educação Física

O esporte na cidade : aspectos do esforço civilizador brasileiro

Universidade Estadual de Campinas . Faculdade de Educação Física

Da avaliação a gestão de processo : uma proposta de instrumento para acompanhamento da inclusão contextualizada no transcorrer de atividades motoras

Universidade Estadual de Campinas . Faculdade de Educação Física

O futebol e os jogos/brincadeiras de bola com os pes

Universidade Estadual de Campinas. Faculdade de Educação Física

A educação fisica na rede publica do municipio de São João da Boa Vista - SP e o portador de necessidade especiais

Universidade Estadual de Campinas. Faculdade de Educação Física

Manejando o lazer em areas de potencial ecoturistico : o caso do Colegio Agricola de Jundiai/RN

Universidade Estadual de Campinas . Faculdade de Educação Física

Production and body composition traits of broilers in relation to breast weight evaluated by path analysis

Breast weight has great economic importance in poultry industry, and may be associated with other variables. This work aimed to estimate phenotypic correlations between performance (live body weight at 7 and 28 days, and at slaughter, and depth of the breast muscle measured by ultrasonography), carcass (eviscerated body weight and leg weight) and body composition (heart, liver and abdominal fat weight) traits in a broiler line, and quantify the direct and indirect influence of these traits on breast weight. Path analysis was used by expanding the matrix of partial correlation in coefficients which give the direct influence of one trait on another, regardless the effect of the other traits. The simultaneous maintenance of live body weight at slaughter and eviscerated body weight in the matrix of correlations might be harmful for statistical analysis involving systems of normal equations, like path analysis, due to the observed multicollinearity. The live body weight at slaughter and the depth of the breast muscle as measured by ultrasonography directly affected breast weight and were identified as the most responsible factors for the magnitude of the correlation coefficients obtained between the studied traits and breast weight. Individual pre-selection for these traits could favor an increased breast weight in the future reproducer candidates of this line if the broilers' environmental conditions and housing are maintained, since the live body weight at slaughter and the depth of breast muscle measured by ultrasonography were directly related to breast weight.

Phenotypic correlations among meat quality traits in broilers

The goals of this research were to estimate the phenotypic correlations among various meat quality traits from a male broiler line and to describe the relation among these variables. Phenotypical correlations were determined among quality traits, isolating the effects of slaughter date, the age of the mother and sex. The evaluated traits were pH measurements taken at time 0 and at 6 and 24 hours after slaughtering, color parameters, water loss due to exudation, thawing and cooking of the meat, and shear force. Important associations (P<0.01) were found to be significant and, in most cases, weak or moderate, varying from -0.35 to 0.28. The initial pH of the meat was not associated (P>0.05) to the other traits of the meat, whereas the pH at 24 hours after slaughter was able of directly interfering with the attributes of the meat, since this trait was inversely related with lightness and water losses, which indicates an effect of pH fall along 24h after slaughtering on protein denaturation. This study demonstrates that the variables of poultry meat quality are related and that there is a phenotypical association between lightness and cooking losses and the other attributes of the meat. The pH at 24 hours after slaughtering, lightness and cooking losses could be efficient meat quality indicators in this broiler line.