Mutations In Sry And Wt1 Genes Required For Gonadal Development Are Not Responsible For Xy Partial Gonadal Dysgenesis.

The WT1 transcription factor regulates SRY expression during the initial steps of the sex determination process in humans, activating a gene cascade leading to testis differentiation. In addition to causing Wilms' tumor, mutations in WT1 are often responsible for urogenital defects in men, while SRY mutations are mainly related to 46,XY pure gonadal dysgenesis. In order to evaluate their role in abnormal testicular organogenesis, we screened for SRY and WT1 gene mutations in 10 children with XY partial gonadal dysgenesis, 2 of whom with a history of Wilms' tumor. The open reading frame and 360 bp of the 5' flanking sequence of the SRY gene, and the ten exons and intron boundaries of the WT1 gene were amplified by PCR of genomic DNA. Single-strand conformation polymorphism was initially used for WT1 mutation screening. Since shifts in fragment migration were only observed for intron/exon 4, the ten WT1 exons from all patients were sequenced manually. No mutations were detected in the SRY 5' untranslated region or within SRY open-reading frame sequences. WT1 sequencing revealed one missense mutation (D396N) in the ninth exon of a patient who also had Wilms' tumor. In addition, two silent point mutations were found in the first exon including one described here for the first time. Some non-coding sequence variations were detected, representing one new (IVS4+85A>G) and two already described (-7ATG T>G, IVS9-49 T>C) single nucleotide polymorphisms. Therefore, mutations in two major genes required for gonadal development, SRY and WT1, are not responsible for XY partial gonadal dysgenesis.3817-2

The prevalence of and variables associated with smoking in children and adolescents

OBJECTIVE: To identify the prevalence of smoking and the presence of variables associated with the habit in children and adolescents of both sexes, aged 7 to 17 years, resident in the city of Maceió. METHODS: A cross-sectional epidemiological study of the student population of the both private and public education systems at elementary and high school level. Sample size was calculated based on the minimum predicted prevalence of a large number of variables, including smoking itself. Cluster sampling was employed. A questionnaire on smoking habits was completed during individual interviews with each student. Children who admitted having smoked on 1 or more day during the previous 30 were defined as current smokers. The variables analyzed were related to: the students (age, sex, previous experimentation with cigarettes and paid employment), their educational status (public/private school, daytime/evening lessons, grade and repeated years) and their families (economic status, smoking parents and separated parents). RESULTS: A total of 1,253 students were analyzed (547 were male, mean age was 12.4 2.9 years). Observed smoking prevalence was 2.4%. Multivariate statistical analysis demonstrated significant associations between smoking and: increased age (odds ratio: 1.31); previous experimentation with cigarettes (odds ratio: 33.96); studying during the evening (odds ratio: 5.43). It was observed that 286 students (22.8%) admitted having experimented with cigarettes (9% from 7 to 9 years; 21% from 10 to 14 years; 36% from 15 to 17 years). CONCLUSIONS: The prevalence of smoking among children and adolescents in the Maceió educational system is 2.4%, being most common among students aged 15 to 17 years, studying in the evening. Students who had experimented with cigarettes exhibited a 34 times greater chance of becoming smokers.OBJETIVO: Identificar a prevalência do hábito de fumar e a ocorrência de variáveis associadas ao hábito em crianças e adolescentes de 7 a 17 anos, de ambos os sexos e provenientes da cidade de Maceió. MÉTODOS: Estudo epidemiológico transversal, baseado na população de alunos da rede de ensino público e privada, níveis fundamental e médio. Cálculo da amostra baseado na menor prevalência esperada de inúmeras variáveis, incluindo tabagismo. Amostragem por conglomerados. Questionário sobre o hábito de fumar; entrevista individual com cada estudante. Considerado fumante atual aquele que admitiu ter fumado em 1 ou mais dias nos últimos 30 dias. Variáveis analisadas: relacionadas ao estudante (idade, sexo, experimentação prévia de cigarros e trabalho remunerado), à sua condição na escola (pública/privada, turno, nível e repetência) e à família (classificação econômica, pais fumantes e pais separados). RESULTADOS: Foram avaliados 1.253 estudantes (547 do sexo masculino, média de idade 12,4±2,9 anos). Identificou-se uma prevalência de tabagismo de 2,4%. A análise estatística multivariada demonstrou associação significante do hábito de fumar com: maior idade (odds ratio de 1,31); experimentação prévia de cigarros (odds ratio de 33,96); estudar no período noturno (odds ratio de 5,43). Observou-se que 286 estudantes (22,8%) admitiram haver experimentado cigarros (9% de 7 a 9 anos; 21% de 10 a 14 anos; 36% de 15 a 17 anos). CONCLUSÕES: A prevalência de tabagismo em crianças e adolescentes da rede de ensino da cidade de Maceió é de 2,4%, sendo mais freqüente em estudantes de 15 a 17 anos, do curso noturno. Estudantes que experimentaram cigarros apresentam 34 vezes mais chances de se tornarem fumantes.Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Universidade Federal de Alagoas Faculdade de MedicinaUniversidade Federal de São Paulo (UNIFESP) Escola Paulista de MedicinaUniversidade Federal de AlagoasUNIFESP, EPMSciEL

Clinical effectiveness and safety of analogue glargine in type 1 diabetes : systematic review and meta-analysis

INTRODUCTION: The use of insulin analogues for the treatment of type 1 diabetes mellitus (T1DM) is widespread; however, the therapeutic benefits still require further evaluation given their higher costs. Objective: To evaluate the effectiveness and safety of Analogue Glargine (AG) compared to Recombinant DNA insulin (rDNA) in patients with DM1 in observational studies, building on previous reviews of RCTs comparing NPH insulin and AG. METHODS: A systematic review (SR) with meta-analysis. The SR included cohort studies and registries available on PUBMED, LILACS, and CENTRAL as well as manual and gray literature searches. The meta-analysis was conducted in Review Manager ® 5.2 software. The primary outcomes were: glycohemoglobin (Hb1Ac), weight gain and hypoglycemia. Methodological quality was assessed using the Newcastle-Ottawa scale. RESULTS: Out of 796 publications, 11 studies were finally included. The meta-analysis favored AG in Hb1Ac outcomes (adult patients) and hypoglycemic episodes (p <0.05), but without reaching glycemic control (Hb1Ac to approximately 7%). The methodological quality of the studies was moderate, noting that 45% of studies were funded by pharmaceutical companies. CONCLUSION: Given the high heterogeneity of the studies, the discrete value presented by the estimated effect on effectiveness and safety, potential conflicts of interest of the studies and the appreciable higher cost of AG, there is still no support for recommending first line therapy with analogues. The role of analogues in the treatment DM1 could be better determined by further observational studies of good methodological quality to assess their long-term effectiveness, safety as well as cost-effectiveness

Efeito da fertirrigação nitrogenada no rendimento de grãos de genótipos de trigo, no cerrado.

bitstream/CNPT-2010/40323/1/p-bp50.pd

Health technology performance assessment : real-world evidence for public healthcare sustainability

Objective: Health technology financing is often based on randomized controlled trials (RCTs), which are often the same ones used for licensing. Since they are designed to show the best possible results with typically Phase III studies conducted under ideal and highly controlled conditions to seek high internal validity and maximize the chance of demonstrating clinical benefit, they often do not reflect likely effectiveness in routine clinical care. Consequently, it is not surprising that technologies do not always perform in real life in the same way as controlled conditions. Since financing (and price paid) decisions can be made with overestimated results, health authorities need to ask whether health systems achieve the results they expect when they choose to pay for a technology. The optimal way to answer this question is to assess the performance of financed technologies in real world settings. Health technology performance assessment (HTpA) refers to the systematic evaluation of the properties, effects, and/or impact of a health intervention or health technology in the real world to provide information for investment/ disinvestment decisions and clinical guideline updates. The objective is to describe the development and principal aspects of the Guideline for HTpA commissioned by the Brazilian Ministry of Health. Method: Extensive literature review, refinement with experts across countries and public consultation. Results: A comprehensive guideline was developed, which has been adopted by the Brazilian government. Conclusion: We believe the guideline, with its particular focus on disinvestment, along with the creation of a specific program for HTpA, will allow the institutionalization and continuous improvement of the scientific methods to use real world evidence to optimize available resources not only in Brazil but across countries

Meaning of the Pap smear for health student

OBJECTIVE: To describe the meanings of the Pap smear for health students. METHODS: Descriptive study, qualitative approach, with 45 students from the health area of ​​a Higher Education Institution, in the Northeast of Brazil. Data were collected in 2017, by means of interviews, processed in the IRaMuTeQ software, and pushed by the Descending Hierarchical Classification. RESULTS: The students recognize that the education in health is the best strategy to prevent cervical cancer, as it is an essential tool in primary care and must be performed by health professionals. CONCLUSION: The meanings found by the students revealed a concern with their role in the Pap smear and, therefore, considers it very important to improve their knowledge in this area so that they can provide quality care to women seeking to prevent cervical cancer.OBJETIVO: Descrever os significados do exame de Papanicolaou para estudantes da saúde. MÉTODOS: Estudo descritivo, de abordagem qualitativa, com 45 estudantes da área de saúde de uma Instituição de Ensino Superior, no Nordeste do Brasil. Os dados foram coletados em 2017, por meio de entrevistas, processados no software IRaMuTeQ, e analisados pela Classificação Hierárquica Descendente. RESULTADOS: Os estudantes reconhecem que a educação em saúde é a melhor estratégia para prevenir o cancro do colo do útero, por ser uma ferramenta essencial na atenção básica e deve ser realizada por profissionais de saúde. CONCLUSÃO: Os significados atribuídos pelos estudantes revelaram uma preocupação com seu papel no exame de Papanicolaou e, portanto, consideram muito importante aprimorar seus conhecimentos nessa área para que possam prestar um atendimento de qualidade às mulheres que buscam a prevenção do cancro de colo do úteroinfo:eu-repo/semantics/publishedVersio