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OBJETIVO: Avaliar os resultados de ações preventivas e de promoção à saúde institucionalizadas para crianças fenilcetonúricas. MÉTODOS: Foram avaliados os resultados alcançados pelo Programa de Triagem Neonatal, do Estado do Paraná, entre os fenilcetonúricos, no período de 1996 a 2001. Foram investigados dados socioeconômicos e aplicado instrumento de medição da função motora grossa para determinar as habilidades motoras de 32 crianças fenilcetonúricas com diagnóstico e tratamento precoces. Optou-se pela utilização do coeficiente de correlação de Pearson para verificar a relação entre a variável de interesse (escore motor) e as demais variáveis quantitativas (nível médio de fenilalanina pós-tratamento, escolaridade do pai e da mãe, idade da criança no início do tratamento e renda familiar). RESULTADOS: Dentre as crianças avaliadas, 93,7% apresentaram desenvolvimento de acordo com os parâmetros de normalidade referenciados na literatura. O tratamento foi iniciado no primeiro mês em 71,9% dos casos de fenilcetonúria. A pesquisa socioeconômica registrou 39,5% de pais com instrução até o quarto ano escolar. Foi encontrada correlação significativa entre o escore motor da criança e a escolaridade dos pais (N=32), e entre o escore motor e a precocidade do tratamento (N=27). CONCLUSÕES: Os resultados evidenciaram a alta efetividade do programa avaliado. A baixa escolaridade dos pais e sua relação com o escore motor ressaltam a importância do apoio aos pais na dietoterapia. A relação encontrada entre o escore motor e o início do tratamento confirma a necessidade da adesão imediata ao programa. A inexistência na literatura de outros estudos de avaliação dificulta a generalização dos resultados.

Discute-se a base de construção do conceito de risco, a partir da descrição do modelo de inferência causal de Rubin, desenvolvido no âmbito da estatística aplicada, e incorporado por uma vertente da epidemiologia. A apresentação das premissas da inferência causal torna visível as passagens lógicas assumidas na construção do conceito de risco, permitindo entendê-lo "por dentro". Esta vertente tenta demonstrar que a estatística é capaz de inferir causalidade ao invés de simplesmente evidenciar associações estatísticas, estimando em um modelo o que é definido como o efeito de uma causa. A partir desta distinção entre procedimentos de inferência causal e de associação, busca-se distinguir também o que seria a dimensão epidemiológica dos conceitos, em contrapartida a uma dimensão simplesmente estatística. Nesse contexto, a abordagem dos conceitos de interação e confusão toma-se mais complexa. Busca-se apontar as reduções que se operam nas passagens da construção metodológica do risco. Tanto no contexto de inferências individuais, quanto populacionais, esta construção metodológica impõe limites que precisam ser considerados nas aplicações teóricas e práticas da epidemiologia.

Objective: To analyze the characteristics, demands and expectations of users of an HIV testing and counseling center., Methodological Procedures: Qualitative research carried out with 32 users of a testing and counseling center in the state of Minas Gerais (southeastern Brazil), from November 2005 to March 2006. The open semi-structured interview technique was used, as well as an adaptation of the content analysis method. Thematic modality was employed., Analysis of Results: Lack of knowledge regarding the service, difficulty in perceiving oneself as vulnerable to infection, justifications of not belonging to risk groups, fear of embarrassment and of precarious care emerged as important limitations to the access to the testing and counseling center., Conclusions: A paradox was identified in the users' discourse between the participative aspect in overcoming vulnerability and the search for pragmatic solutions for excluding risk. Their demands signaled strategies that should contain: high-quality information and access to the service and to prevention and health promotion discourses.

Objective: From a perspective of comprehensive care, the purpose of the study was to evaluate factors associated to dental care provided to Down syndrome children and adolescents., Methods: A cross-sectional study was carried out including 112 pairs of mothers/Down syndrome children aged between 3 and 18 years who attended a public hospital genetics clinic in Rio de Janeiro, Southeastern Brazil, in 2006. Dental care was not provided at the clinic. Data were collected through a questionnaire administered to the mothers and oral examinations of their children. Multiple logistic regression was used for data analysis. The dependent variable was "dental care of the Down syndrome child or adolescent" and the independent variables included demographic, socioeconomic and behavioral characteristics., Results: Most children (79.5%) had had at least one dental visit (90% CI: 72.3; 87.8). Dental experience of the children was associated to the following variables: mothers who reported being advised by their children's health provider to take them to the dentist's (OR=6.1 [2.5; 15.1]); children with prior history of surgery (OR=2.5 [0.9; 7.1]); and age between 12 and 18 years (OR=13.1 [2.0; 86.9])., Conclusions: Dental care provided to Down syndrome children and adolescents was associated to advice given by their health providers, a part of comprehensive care.

Objective: To evaluate the results of systematizing preventive and health promotion actions among phenylketonuria (PKU) patients., Methods: Results of phenylketonuria patients attended in the Prenatal PKU Screening Program in the State of Paraná, Brazil, from 1996 to 2001, were evaluated. Socioeconomic data were investigated and the gross motor function measure was applied to determine the motor score among 32 PKU infants with early diagnosis and treatment. Pearson's correlation coefficient was adopted to investigate the relationship between the target variable (motor score) and other quantitative variables (mean post-treatment serum phenylalanine level, parents' educational level, infant's age at the start of treatment, and family income)., Results: Among all the children evaluated, 93.7% showed development within normal limits as reported in the literature. Treatment was initiated in the first month of life in 71.9% of the PKU cases. Socioeconomic data showed 39.5% of parents having completed the fourth grade of primary school or less. There was a significant correlation between infant's motor score and parents' educational level (N=32), as well as between motor score and early treatment (N=27)., Conclusions: The results highlighted the program's effectiveness. The correlation between parents' low educational level and lower motor score emphasizes the importance of support for parents in their use of diet therapy. The association between motor score and early initiation of treatment confirms the need for immediate admission into the program. The paucity of other evaluation studies in the literature makes generalization of the results difficult.