Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis

The Y-chromosome-located SRY gene encodes a small testis-specific protein containing a DNA-binding motif known as the HMG (high mobility group) box. However, mutations in SRY are not frequent especially in cases of 46,XY partial gonadal dysgenesis. Several sex-determining genes direct the fate of the bipotential gonad to either testis or ovary. In addition, heterozygous small deletions in 9p can cause complete and partial XY gonadal dysgenesis without other symptoms. Human DMRT1 gene, which is located at 9p24.3, is expressed in testis and ovary and has been considered, among others, a candidate autosomal gene responsible for gonadal dysgenesis. In this report we describe a nucleotide insertion in DMRT1 3'UTR in a patient of XY partial gonadal dygenesis. The 3'UTR+11insT is located within a conserved motif important for mRNA stabilization.

Crescimento fisico e desempenho motor em crianças de 6 a 12 anos decondição socio-economica media da area urbana da provincia de Arequipa-Peru

Universidade Estadual de Campinas. Faculdade de Educação Física

Crescimento da pessoa com Síndrome de Down : contribuição para a construção de um referencial

Universidade Estadual de Campinas . Faculdade de Educação Física

Aplicação da escala de qualidade de vida em crianças de 07 a 12 anos praticantes de atividade fisica em academia e suas relações com a aptidão fisica

Universidade Estadual de Campinas . Faculdade de Educação Física

Inequalities in the distribution of dental caries among 12-year-old Brazilian schoolchildren

We assessed the inequality in the distribution of dental caries and the association between indicators of socioeconomic status and caries experience in a representative sample of schoolchildren. This study followed a cross-sectional design, with a sample of 792 schoolchildren aged 12 years, representative of this age group in Santa Maria, RS, Brazil. Guardians answered questions on socioeconomic status and a dental examination provided information on the dental caries experience (DMF-T). Inequality in dental caries distribution was measured by the Gini coefficient and the Significant Caries Index (SiC). The assessment of association used Poisson regression models. Socioeconomic factors were associated with prevalence of dental caries for the whole sample and also for individuals with a high-caries level. Children from low-income households had the highest prevalence of dental caries. The Gini coefficient was 0.7 and the SiC Index 2.5. The percentage of caries prevalence was 39.3% (95% CI: 35.8%-42.8%) and the mean for DMF-T was 0.9 (± SD 1.5). Inequalities in the distribution of dental caries were observed and socioeconomic factors were found to be strong predictors of the prevalence of oral disease in children of this age group.

Estudo de caso de uma situação atmosférica entre 12 e 19 de setembro de 2008, com algumas características semelhantes ao evento Catarina

Este trabalho apresenta uma análise das condições sinótica e dinâmica associadas ao desenvolvimento do ciclone ocorrido entre 12 e 19 de setembro de 2008, com o objetivo de destacar diferenças e semelhanças com o ambiente em que se inseriu o evento Catarina em março de 2004. As principais semelhanças foram encontradas no padrão sinótico geral: a ocorrência de um padrão típico de bloqueio do tipo dipolo associado à anomalia de vorticidade potencial em altos níveis; cavado em níveis médios com inclinação para oeste; a presença de uma coluna de vorticidade ciclônica desde a superfície até a baixa estratosfera; e, em superfície, o padrão de uma alta ao sul de uma baixa pressão. Apesar das semelhanças no padrão geral, diferenças ocorreram entre os dois eventos que influenciaram na intensidade dos sistemas: o Catarina ocorreu em latitudes mais baixas em relação ao caso de setembro de 2008; o padrão típico de bloqueio associado ao caso de setembro de 2008 durou um dia e meio, enquanto no evento Catarina foi de três dias; a configuração da advecção de temperatura na camada entre 1000-500 hPa favoreceu o deslocamento do evento de setembro de 2008 para leste/sudeste, ao contrário do Catarina, a advecção de ar quente a leste do ciclone foi praticamente suprimida e a tendência de altura geopotencial passou a ser positiva, padrões que impedem o deslocamento do sistema para leste; no caso de setembro de 2008 o padrão da inversão do gradiente meridional de temperatura potencial na superfície de -2,0 unidade de vorticidade potencial (UVP) foi caracterizado pela incursão de uma região alongada de ar quente vinda do equador em direção ao sul e ar frio vinda do sul em direção ao equador, enquanto no caso Catarina a inversão ocorre pelo isolamento de uma bolha de ar frio ao norte e uma bolha de ar quente ao sul, o que pode ter contribuído para maior duração do padrão de bloqueio, pois a dissipação neste caso é dificultada. Sistemas como o Catarina podem ser raros no Atlântico Sul, mas isso não ocorre em relação ao ambiente sinótico em que se formou o Catarina. Para melhor entender o processo atmosférico que levou à formação do Catarina, é necessário realizar experimentos numéricos de sensibilidade para o caso de setembro de 2008 com o objetivo de verificar a possibilidade do ciclone extratropical se tornar um ciclone tropical.

Use of chromosome microdissection in fish molecular cytogenetics

Chromosome microdissection is a technique in which whole chromosomes or chromosomal segments are dissected under an inverted microscope yielding chromosome-specific sequences. Several protocol modifications introduced during the past 15 years reduced the number of chromosomes required for most applications. This is of particular interest to fish molecular cytogenetics, since most species present highly uniform karyotypes which make impossible the collection of multiple copies of the same chromosome. Probes developed in this manner can be used to investigate chromosome homologies in closely related species. Here we describe a protocol recently used in the gymnotiform species group Eigenmannia and review the major steps involved in the generation of these markers focusing on protocol modifications aiming to reduce the number of required chromosomes.

Chorion biopsy in mongrel dogs

With the great development of the gestational studies in all of the species, we noticed the necessity of adaptations of these techniques for prenatal diagnosis in dogs. Based on this, we studied the feasibility of chorion biopsy guided by ultrasound. Our results demonstrated accuracy on the sex determination being 2 males and 12 females, as well as it would be possible to identify chromosome alteration due to the quality of samplings. Sex determination was accomplished with the identification of Y gene chromosomes in PCR technique. After the collection, fragments were prepared for light microscopy studies and revealed fetal chorion tissue, blood colloid and erythrocyte. In the whole material we found hemosiderin impregnations due to the hemolysis and to the residue of blood of the placental marginal hematomes. The submitted female dogs to this technique demonstrated normal puppy births without death.

Lisina digestível para frangos de corte machos entre 12 e 22 dias de idade

Avaliou-se nível de lisina digestível para 1050 frangos de corte dos 12 aos 22 dias de idade. O delineamento experimental foi inteiramente ao acaso, com cinco tratamentos, sete repetições e 30 aves por unidade experimental. Os tratamentos foram: 1,05; 1,10; 1,15; 1,20 e 1,25% de lisina digestível. Avaliaram-se ganho de peso, consumo de ração, conversão alimentar, composição e deposição de nutrientes corporais. Foram constatados efeitos quadráticos de lisina digestível no consumo de ração e resposta linear ascendente no peso da carcaça. Na composição química da carcaça, houve resposta quadrática do nível de lisina na concentração de proteína. As taxas de deposição proteica, deposição de água, da carcaça e do corpo total tiveram aumento linear em resposta ao acréscimo de lisina na dieta. O aumento da concentração de lisina, todavia, coincidiu com a redução da matéria mineral nas vísceras e sangue e no corpo total. Considerado o desempenho, o nível 1,1% de lisina digestível atendeu às necessidades do frango de corte entre o 12º e o 22º dia de idade. Consideradas a composição química e as taxas de deposição dos nutrientes corporais, a demanda pelo aminoácido digestível torna-se igual ou maior que 1,25%

Effects of naps at work on the sleepiness of 12-hour night shift nursing personnel

Background and objective: The purpose of the present study was to evaluate the effects of a nap at work on the sleepiness of 12-hour, night-shift (registered and assistant) nursing personnel.Methods: Twelve nurses filled out daily logs, the Karolinska Sleepiness Scale (KS), and wore wrist actigraphs for two periods of four continuous days.Results: Mean nap duration during the night shifts was 138.3 (SD+39.8) minutes. The mean sleepiness level assessed by the KS score was lower, 3.3 (SD±1.6), when the nap was taken during the first span (00:01 - 03:00h) of the night shift, compared with 6.6 (SD±1.0) when there was no nap. The mean sleepiness level assessed by the KS score was also lower, 3.6 (SD±0.9), when the nap was taken during the second span (03:01 - 06:00h) of the night shift, compared with 7.0 (SD±1.1) when there was no nap. Thus, napping either during the first or second part of the night shift reduces sleepiness of 12-hour, night-shift nursing personnel. Moreover, the mean duration of the first sleep episode after night work was longer in those who did not nap than in those who did. Conclusions: The results of this study show that napping during the 12-hour, night-shift results in less sleepiness at work and less need for recovery sleep after work

Efficacy of sweet solutions for analgesia in infants between 1 and 12 months of age: a systematic review

Objective To compare the efficacy of oral sweet solutions to water or no treatment in infants aged 1-12 months during immunisation. Methods Randomised controlled trials (RCTs) were retrieved through internet searches or manual searches of reference lists. Search terms included newborn, infant, pain, sucrose and alternative names for sweet solutions. Summary estimates with 95% CIs were calculated and included relative risk (RR), risk difference (RD) and number needed to treat to benefit (NNTB) for dichotomous outcomes, and weighted mean differences (WMD) for continuous outcomes. Where pooling of results was not possible, a narrative summary of study results is presented. Results Of the 695 studies identified, 14 RCTs with 1674 injections met the inclusion criteria. Sucrose or glucose, compared to water or no treatment decreased crying during or following immunisation in 13 of the 14 studies. Infants receiving 30% glucose (three trials, 243 infants) had a decreased RR in crying incidence following immunisation (typical RR 0.80, 95% CI 0.69 to 0.93; RD -0.17, 95% CI -0.29 to -0.05; NNTB 6, 95% CI 3 to 20). With sucrose or glucose, there was a 10% WMD reduction in proportion of crying time (95% CI - 18 to - 2) and a 12 s reduction in crying duration (95% CI - 23 to -0.7 s). An optimal dose of sucrose or glucose could not be ascertained due to the varied volumes and concentrations used. Conclusion Infants aged 1-12 months administered sucrose or glucose before immunisation had moderately reduced incidence and duration of crying. Healthcare professionals should consider using sucrose or glucose before and during immunisation.

Effects of trans-10, cis-12 conjugated linoleic acid on gene expression and lipid metabolism of adipose tissue of growing pigs

The objective of the present study was to determine the effects of trans-10, cis-12 conjugated linoleic acid (CLA) in adipose tissue explant cultures of growing pigs on the following responses: lipogenesis (measured as rate of C-14-labeled glucose incorporation over a subsequent 2-h incubation in the presence or absence of insulin), lipolysis (release of non-esterified fatty acid over a 2-h incubation in the presence or absence of isoproterenol), activities of lipogenic enzymes, and mRNA abundance of fatty acid synthase (FAS). Adipose tissue explants from nine growing pigs (78 +/- 3 kg) were cultured in 199 medium with insulin, dexamethasone and antibiotics for 4, 12, 24, and 48 h. The treatments were 1) control: 100 mu M polyvinyl alcohol (PVA); 2) pGH: 100 ng/mL porcine growth hormone (pGH) plus 100 mu M PVA; 3) CLA200: 200 mu M trans-10, cis-12 CLA; 4) CLA50: 50 mu M trans-10, cis-12 CLA, and 5) LA: 200 mu M linoleic acid. Fatty acids were added along with PVA (2: 1), respectively, for 24 h. Explants were collected after each culture period and assayed for lipogenesis. Transcripts of FAS mRNA were quantified by real-time RT-PCR after 24 and 48 h. Lipolysis and activities of FAS, glucose 6-phosphate dehydrogenase, 6-phosphogluconate dehydrogenase, and NADP-malate dehydrogenase were determined after 48 h. As expected, glucose incorporation was decreased (P < 0.05) in response to pGH treatment (positive control). LA had no effect on any parameter evaluated. Treatment with trans-10, cis-12 CLA decreased FAS activity (P < 0.05), but NADPH-generating enzymes were unaffected by treatments. Consistent with reduction in FAS activity, both lipid synthesis and FAS mRNA abundance were reduced with chronic CLA treatment, pGH increased baseline and stimulated lipolysis (P < 0.05) after 48 h of culture, while CLA treatment had no effect on non-esterified fatty acid release. Results of this study showed that trans-10, cis-12 CLA alters lipogenesis but has no effect on lipolysis in cultures of pig adipose tissue.

Origins of the Xylella fastidiosa Prophage-Like Regions and Their Impact in Genome Differentiation

Xylella fastidiosa is a Gram negative plant pathogen causing many economically important diseases, and analyses of completely sequenced X. fastidiosa genome strains allowed the identification of many prophage-like elements and possibly phage remnants, accounting for up to 15% of the genome composition. To better evaluate the recent evolution of the X. fastidiosa chromosome backbone among distinct pathovars, the number and location of prophage-like regions on two finished genomes (9a5c and Temecula1), and in two candidate molecules (Ann1 and Dixon) were assessed. Based on comparative best bidirectional hit analyses, the majority (51%) of the predicted genes in the X. fastidiosa prophage-like regions are related to structural phage genes belonging to the Siphoviridae family. Electron micrograph reveals the existence of putative viral particles with similar morphology to lambda phages in the bacterial cell in planta. Moreover, analysis of microarray data indicates that 9a5c strain cultivated under stress conditions presents enhanced expression of phage anti-repressor genes, suggesting switches from lysogenic to lytic cycle of phages under stress-induced situations. Furthermore, virulence-associated proteins and toxins are found within these prophage-like elements, thus suggesting an important role in host adaptation. Finally, clustering analyses of phage integrase genes based on multiple alignment patterns reveal they group in five lineages, all possessing a tyrosine recombinase catalytic domain, and phylogenetically close to other integrases found in phages that are genetic mosaics and able to perform generalized and specialized transduction. Integration sites and tRNA association is also evidenced. In summary, we present comparative and experimental evidence supporting the association and contribution of phage activity on the differentiation of Xylella genomes.

Genomic islands in the pathogenic filamentous fungus Aspergillus fumigatus

We present the genome sequences of a new clinical isolate of the important human pathogen, Aspergillus fumigatus, A1163, and two closely related but rarely pathogenic species, Neosartorya fischeri NRRL181 and Aspergillus clavatus NRRL1. Comparative genomic analysis of A1163 with the recently sequenced A. fumigatus isolate Af293 has identified core, variable and up to 2% unique genes in each genome. While the core genes are 99.8% identical at the nucleotide level, identity for variable genes can be as low 40%. The most divergent loci appear to contain heterokaryon incompatibility ( het) genes associated with fungal programmed cell death such as developmental regulator rosA. Cross-species comparison has revealed that 8.5%, 13.5% and 12.6%, respectively, of A. fumigatus, N. fischeri and A. clavatus genes are species-specific. These genes are significantly smaller in size than core genes, contain fewer exons and exhibit a subtelomeric bias. Most of them cluster together in 13 chromosomal islands, which are enriched for pseudogenes, transposons and other repetitive elements. At least 20% of A. fumigatus-specific genes appear to be functional and involved in carbohydrate and chitin catabolism, transport, detoxification, secondary metabolism and other functions that may facilitate the adaptation to heterogeneous environments such as soil or a mammalian host. Contrary to what was suggested previously, their origin cannot be attributed to horizontal gene transfer ( HGT), but instead is likely to involve duplication, diversification and differential gene loss (DDL). The role of duplication in the origin of lineage-specific genes is further underlined by the discovery of genomic islands that seem to function as designated ""gene dumps'' and, perhaps, simultaneously, as "" gene factories''.

Ring chromosome instability evaluation in six patients with autosomal rings

Ring chromosomes are often associated with abnormal phenotypes due to loss of genomic material and also because of ring instability at mitosis after sister chromatid exchange events. We investigated ring chromosome instability in six patients with ring chromosomes 4, 14, 15, and 18 by examining 48- and 72-h lymphocyte cultures at the first, second and subsequent cell divisions after bromodeoxyuridine incorporation. Although most cells from all patients showed only one monocentric ring chromosome, ring chromosome loss and secondary aberrations were observed both in 48-and 72-h lymphocyte cultures and in metaphase cells of the different cell generations. We found no clear-cut correlation between ring size and ring instability; we also did not find differences between apparently complete rings and rings with genetic material loss. The cytogenetic findings revealed secondary aberrations in all ring chromosome patients. We concluded that cells with ring chromosome instability can multiply and survive in vivo, and that they can influence the patient's phenotype.