Maria Helena Cabral de Almeida Cardoso

Atenção aos defeitos congênitos no Brasil: características do atendimento e propostas para formulação de políticas públicas em genética clínica

The impact of birth defects in Brazil has increased steadily, indicating the need for specific health policy strategies. Despite the close relationship between clinical genetics and management of birth defects, less than 30% of the total demand is currently met by existing genetic services. The main problems are: difficult access to genetic services, services highly concentrated in the South and Southeast regions of the country, and insufficient laboratory support. With the aim of improving management of birth defects, a specific national policy coordinated by the Ministry of Health needs to be developed. The main goal of such a policy should be the organization of a functional integrated genetics network, in addition to rational use of resources and enhanced coverage. In order to formalize a national laboratory network, sample shipping and billing mechanisms must be created. Birth defect prevention, education for the medical community and general population, and solid epidemiological data collection are strongly recommended as complementary measures. If such recommendations are implemented, it could be possible to organize a network for management of birth defects in Brazil that is regionalized, hierarchical, functional, and democratic as well.

As narrativas em medicina: contribuições à prática clínica e ao ensino médico

This article discusses the role played by medical narratives. After explanatory research and careful content analysis of the material published about the subject it was possible to conclude that medical narratives are a major issue for those physicians and scholars concerned with the immediate future of medical education. To encompass the broad range of articles and books about the subject, this article was divided into three parts for a better presentation of the presently most common forms of discussion around the issue. In the first part we elaborate a classification of medical narratives; the second highlights the links between Medicine and Literature, considered a fundamental tool for the improvement of narrative competence, so necessary for the diagnostic process based on the history of the disease narrated by the patient.Finally we discuss the todays positioning of specialists with respect to the role of the narrative in the field of medical ethics. It also points out that a narrative epistemology has always been contained in medical education and practice.

Opinions by physicians from the Family Health Program on four health care priorities proposed by the Agenda for Commitment to Comprehensive Child Health and Reduction of Infant Mortality

The aim of this study was to understand how physicians from a team in the Brazilian Family Health Program perceive their work in child health, as compared to the programs principles outlined in the Agenda for Commitment to Comprehensive Child Health and Reduction of Infant Mortality, under the Ministry of Health. The backdrop was the strategy for implementation of primary care under the Unified National Health System (SUS). Semi-structured interviews were held, and the material was submitted to content analysis. According to the findings, in general the Agenda is being met. However, there are difficulties with referral and counter-referral; the measures proposed by the Family Health Program require medical and sociological competence and face problems inherent to biomedical training; the infrastructure and inputs are precarious; and the training provided does not prepare physicians sufficiently for a more comprehensive approach. In conclusion, the primary care model in Brazil requires adjustments to the countrys reality, and partnerships that transcend the system are necessary.

Representações sociais e história: referenciais teórico-metodológicos para o campo da saúde coletiva

This article discusses the concept of social representations on health and illness from a social/historical point of view, to provide the means for developing research in the public health care domain. To situate this discussion, the analysis was based on field research health issues, attempting to demarcate a theoretical frame of reference with the help of reference literature in sociology and cultural history, while also contemplating cultural anthropological studies conducted in the medical field.

Sepsis-Related Mortality of Very Low Birth Weight Brazilian Infants: The Role of Pseudomonas aeruginosa

The aim of this study is to identify risk factors for sepsis-related mortality in low birth weight (<1500 g) infants. We performed retrospective cohort study to investigate risk factors for sepsis-related mortality in all neonates birth weight <1500 g admitted to Level III neonatal intensive care unit, Brazil, April 2001/September 2004. Of the 203 cases, 71 (35%) had sepsis. Of those, gram-positive was identified in 52/87 blood cultures (59.8%), the most common Coagulase-negative Staphylococcus (31/87; 35.5%). Gram-negative was present in 29 of the 87 positive blood cultures (33.3%), with Pseudomonas aeruginosa (8/87; 9.1%), the most frequent agent. Overall 21 of 71 infants with sepsis (29.6%) died. Risk factors for sepsis-related mortality were gestational age ≤28 weeks, birth weight ≤1000 g (9.6 times more often than birth weight >1000 g), five-minute Apgar ≤7, gram-negative sepsis, mechanical ventilation (6.7 times higher than no use), and intravascular catheter. Sepsis-related mortality was due, mainly, to Pseudomonas aeruginosa; birth weight ≤1000 g and mechanical ventilation were strong sepsis-related mortality predictors.

Uma produção de significados sobre a síndrome de Down

This article explores how medical and lay discourses make themselves intelligible by using figures of speech and jointly constructing a socially homogeneous idea of children with Down syndrome, based on an ethnographic study performed at the Down Syndrome Out-Patient Clinic in the Jos Carlos Cabral de Almeida Center for Clinical Genetics, part of the Department of Genetics at the Fernandes Figueira Institute, a Federal reference hospital for maternal and child health belonging to the Oswaldo Cruz Foundation.

A epistemologia narrativa e o exercício clínico do diagnóstico

Este trabalho objetiva contribuir para a discussao acerca das caracteristicas narrativas do discurso clinico. Para tanto parte de uma revisao bibliografica e da analise semiotica de prontuarios do Centro de Genetica Medica Jose Carlos Cabral de Almeida, do Departamento de Genetica, do Instituto Fernandes Figueira, unidade materno-infantil da Fundacao Oswaldo Cruz. Todos os prontuarios utilizados sao referentes a portadores da sindrome de Down atendidos no Ambulatorio Especializado de Sindrome de Down da referida unidade. O artigo aborda: a questao da possivel oposicao entre narrativa e ciencia; a apresentacao dos principais autores e de seus trabalhos que versam sobre narrativa e conhecimento medico; a exemplificacao da epistemologia narrativa embutida no discurso medico, via a apresentacao de um prontuario, assim como de um heredograma. A conclusao enfatiza a importância da narrativa para o processo de diagnose e tratamento, assim como a construcao de um enredo por parte do medico onde se fazem presentes complexas interacoes biologicas, culturais e sociais.

Estudo seccional descritivo de crianças com deficiência auditiva atendidas no Instituto Nacional de Educação de Surdos, Rio de Janeiro, Brasil

O estudo das deficiencias multiplas em geral e da surdez em especial e escasso em nosso pais. Os pesquisadores iniciaram estudo pioneiro desde 1992, avaliando alunos da educacao especial das redes governamentais de ensino do Estado, estando atualmente focados na surdez. Avaliamos 232 alunos com idade variando de 1 a 39 anos, com media de 10,9 anos. O sexo masculino prevaleceu na amostra. A consanguinidade ocorreu 7,6% e a historia familiar de surdez em 19% dos casos. Observamos 33% de intercorrencias gestacionais. O parto normal foi utilizado em 59% de nossos casos, sendo a termo em 75%. As intercorrencias neonatais estiveram presentes em 35% das vezes. As causas ambientais foram responsaveis por 58,5% da amostra, as causas geneticas por 20,7% dos casos. Sendo o restante considerado idiopatico. Nossos achados corroboram os dados da literatura. Acreditamos que este estudo possa servir como o inicio de uma preocupacao maior com esta populacao, e que atraves do melhor conhecimento de suas caracteristicas seja possivel implementar estrategias de intervencao facilitando a sua interacao produtiva na sociedade.

Diagnóstico da Síndrome de Turner: a experiência do Instituto Estadual de Diabetes e Endocrinologia - Rio de Janeiro, de 1970 a 2008

OBJECTIVES: to describe the Rio de Janeiro State Institute of Diabetes and Endocrinologys experience in diagnosing Turner Syndrome (TS), focusing on the distribution of chromosomes, age, and typical signs and symptoms, according to life stage (breast feeding, childhood, adolescence and adulthood). METHODS: a descriptive study was conducted of 178 patients, attending the Institute between 1970 and 2008 for the purposes of statistical analysis of the percentage differences using Epi-Info-2000 and of the differences between the mean ages using Students t test and ANOVA Results: the caryotypes found were: 79 with 45,X (35.4%), 36 with isochromosome Xq (20.2%) and 63 with other mosaics (35.4%). The mean age on diagnosis was 12.6 years, this figure being lower in patients with 45,X. The syndrome was diagnosed during breast feeding in 11.3% of patients, during childhood in 25.3%, during adolescence in 51.1%, and in 12.4% in adulthood. In those diagnosed before the age of five years, 70,6% had 45,X, signs that led to a suspected diagnosis during breast feeding were a webbed neck and congenital lymphedema in the hands and feet associated with typical dysmorphias. In childhood and adolescence the sign was short stature. Cubitus valgus was found in 72.5% of patients and abnormal ears in 65% of those diagnosed at an age of less than one year. CONCLUSION: diagnosis of TS does not necessarily have to be late, as some typical characteristics may already be present at birth.

Médicos residentes e suas relações com/e no mundo da saúde e da doença: um estudo de caso institucional com residentes em obstetrícia/ginecologia

Investiga-se a percepcao dos medicos que concluiram a residencia em Obstetricia/Ginecologia no Instituto Fernandes Figueira, Fundacao Oswaldo Cruz, em 2004, sobre essa trajetoria. A pesquisa constou de duas etapas, observacao participante e construcao de fontes orais, procedendo-se a uma codificacao analitica qualitativa de todo o material coletado para posterior analise semiotica. Busca-se compreender a heranca cultural enraizada no discurso dos residentes sobre suas relacoes com/e no mundo da saude e da doenca, em particular: desvalorizacao da profissao, ressentimento pela perda de poder do saber medico, percepcao da medicina mais como negocio do que como oficio, incertezas pela duplicidade de papeis - aluno e profissional, dificuldade diante do sofrimento e da morte.