Carlos Augusto Botelho

Toxoplasmose aguda: estudo da freqüência, taxa de transmissão vertical e relação entre os testes diagnósticos materno - fetais em gestantes em estado da Região Centro - Oeste do Brasil

PURPOSE: to establish the frequency of acute toxoplasmosis in pregnant women, vertical transmission rate and the perinatal results of the infected fetuses and also to evaluate the relationship between the most used maternal-fetal diagnostic tests for toxoplasmosis during pregnancy and the relationship between age and acute toxoplasmosis infection during pregnancy. METHODS: longitudinal prospective study of 32,512 pregnant women attended by The Pregnancy Protection Program of the State of Mato Grosso do Sul - Brazil, from November 2002 to October 2003. ELISA (IgG and IgM) and IgG avidity test were performed for maternal diagnosis and amniotic fluid PCR for fetal investigation of the infection. The relationship between data was analyzed statistically by the c2 or two-sided Fishers exact test in contingency tables. RESULTS: a 0.42% frequency of acute Toxoplasma gondii infection among pregnant population was found, where 92% were previously exposed and 8% were susceptible. Among IgM-positive pregnant women, the age ranged from 14 to 39 years, with a mean of 23±5.9 years. There was no statistically significant relationship between age and maternal acute T. gondii infection (p=0.73). The vertical transmission rate was 3.9%. A statistically significant relationship was shown (p=0.001) between a lower avidity IgG test ( 60%) and the absence of fetal infection. There was a statistically significant association (p=0.001) between fetal infection (amniotic fluid PCR) and neonatal infection. CONCLUSIONS: maternal acute toxoplasmosis frequency was lower than the Brazilian national parameters, whereas vertical transmission rate did not differ from the rates found in other studies. The IgG avidity test, when associated with gestational age and the examination date, was useful to evaluate the therapeutical options and to consider the risk of vertical transmission when performed before 12 weeks. Positive PCR in amniotic fluid showed a positive relationship with the worst neonatal prognosis, being a specific method in diagnosing intrauterine fetal infection.

Infecção pelo HTLV 1/2: atuação no pré-natal como estratégia de controle da doença no Estado de Mato Grosso do Sul

In this study, the prevalence of HTLV 1/2 infection among pregnant women in the State of Mato Grosso do Sul was estimated by means of the ELISA, Western Blot and PCR techniques, in blood samples collected by peripheral venous puncture. 116,689 pregnant women were examined and 153 were diagnosed as presenting HTLV 1/2 infection, with prevalence of 0.13%. Among these 153 pregnant women, 133 (86.9%) had type 1 and 20 (11.1%) had type 2; 73.2% were black, brown or indigenous; about 90% performed domestic activities; and 75.8% (116/153) had been to school for seven years or less. The 153 pregnant women had 172 pregnancies during the study period and 164 pregnancies were followed. Out of pregnancies that were followed, 6.7% (11/164) evolved to abortion, 26.8% (41/153) reported previous abortions and 31.7% (13/41) had had more than two abortions. Comorbidities were found in 17% (26/153), among whom 3.3% (5/153) had HIV (p<0.000002). The authors emphasize the importance of identifying pregnant women with HTLV 1/2 infection, as a strategy for disease control and prevention.

Ocorrência de hemoglobina S no estado de Mato Grosso do Sul, Brasil

BACKGROUND: Hemoglobinopathies are the most common genetic disorders in humans and Hb S is the most frequent among them. Its occurrence in the state of Mato Grosso do Sul has not been systematically analyzed yet. OBJECTIVES: To describe the occurrence of hemoglobin S according to genotypes, gender, age at the moment of diagnosis, cover index and prevalence in the state of Mato Grosso do Sul. MATERIAL AND METHOD: Retrospective, transversal and descriptive study of the results of neonatal screening for hemoglobinopathies performed with high pressure liquid chromatography technique at Instituto de Pesquisa, Ensino e Diagnosticos da Associacao dos Pais e Amigos dos Excepcionais (IPED/APAE) in the state of Mato Grosso do Sul (2000-2005). RESULTS: Among 190,809 screened individuals, 2,624 (1.38%) showed alterations, 2,385 were neonates and 239 were children aged 28 days or more. There was no difference in gender (1,335 females and 1,289 males). The altered genotypes were FAS (99.16%), FS (0.61%) and FSC (0.23%). CONCLUSION: This first study of neonatal screening in the state of Mato Grosso do Sul revealed that the state program developed by IPED/APAE has been consolidating and advancing as to cover index and early diagnosis. These indicators may be the basis for preventive (genetic counseling and family studies) and assistance measures (continuous ambulatory treatment), which aim at the reduction of morbimortality in individuals with these hemoglobinopathies in the state.resumo Background: Hemoglobinopathies are the most common genetic disorders in humans and Hb S is the most frequent among them. Its occurrence in the state of Mato Grosso do Sul has not been systematically analyzed yet. Objectives: To describe the occurrence of hemoglobin S according to genotypes, gender, age at the moment of diagnosis, cover index and prevalence in the state of Mato Grosso do Sul. Material and method: Retrospective, transversal and descriptive study of the results of neonatal screening for hemoglobinopathies performed with high pressure liquid chromatography technique at Instituto de Pesquisa, Ensino e Diagnosticos da Associacao dos Pais e Amigos dos Excepcionais (IPED/APAE) in the state of Mato Grosso do Sul (20002005). Results: Among 190,809 screened individuals, 2,624 (1.38%) showed alterations, 2,385 were neonates and 239 were children aged 28 days or more. There was no difference in gender (1,335 females and 1,289 males). The altered genotypes were FAS (99.16%), FS (0.61%) and FSC (0.23%). Conclusion: This first study of neonatal screening in the state of Mato Grosso do Sul revealed that the state program developed by IPED/APAE has been consolidating and advancing as to cover index and early diagnosis. These indicators may be the basis for preventive (genetic counseling and family studies) and assistance measures (continuous ambulatory treatment), which aim at the reduction of morbimortality in individuals with these hemoglobinopathies in the state. unitermos key words Triagem neonatal

Fenilcetonúria materna: relato de caso

A fenilcetonuria materna e uma aminoacidopatia caracterizada por niveis elevados de fenilalanina plasmatica na gestante, o que pode provocar anormalidades no desenvolvimento do feto, condicao que se denomina sindrome de fenilcetonuria materna. Deve ser diagnosticada laboratorialmente, uma vez que as manifestacoes clinicas sao inespecificas. Relatamos um caso de paciente secundigesta, com antecedente pessoal de retardo do desenvolvimento cognitivo, sem antecedentes patologicos obstetricos, com diagnostico laboratorial de hiperfenilalaninemia na atual gestacao, sendo tratada com dieta especifica. O recem-nato, nascido a termo, nao apresentou alteracoes fisicas ou defeitos congenitos confirmados. A gestacao anterior, na qual nao houve diagnostico e controle da fenilcetonuria, resultou em crianca com seria deficiencia psicomotora confirmada, alem de microcefalia e disturbios auditivos e da fala. Com o conhecimento dos efeitos da hiperfenilalaninemia materna sobre o feto, tornam-se essenciais o diagnostico e a instituicao precoce do tratamento durante a gravidez em pacientes com suspeita clinica de fenilcetonuria. No caso aqui descrito, houve beneficios materno-fetais do tratamento dietoterapico oferecido, reforcando a importância da identificacao de mulheres fenilcetonuricas em idade reprodutiva.

Scope and efficiency of the newborn screening program in identifying hemoglobin S

Background In 2001, the Brazilian Ministry of Health added hemoglobinopathies to the National Neonatal Screening Program to be implemented in three steps. In order to meet the proposed goals, it is crucial to establish periodic assessments of this program with the aim of monitoring its implementation. Objective To assess the scope and the efficiency of the stages of the National Newborn Screening Program in identifying hemoglobin S. Methods A cross-sectional study was developed with the results of the heel prick test using the high performance liquid chromatography method for babies born in Mato Grosso do Sul from 2006 to 2010. The following variables were investigated: year, number of live births, total screening, coverage ratio, prevalence, time between the child birth and the blood collection; age at diagnosis; age at the time of the first consultation; and time between the diagnosis and the first appointment. Results Over the five years of the study, the mean coverage rate was 91.77%. The prevalences of hemoglobin FAS and hemoglobin FS were 1.65% and 0.011%, respectively. Blood samples from 43.48% of children were collected from the second to the seventh day. The age at diagnosis was within the first 28 days in 87.80% of the screened children. The lowest mean indices for the first consultation and the time between the diagnosis and the first appointment (58.8 and 46.4 days, respectively) occurred in 2010. Conclusions The scope of the National Neonatal Screening Program for hemoglobinopathies is good, with a large number of individuals being tested. Efficiency is a suitable indicator to assess the program steps. Three points are recommended: the training of the individuals involved, studies to assess the assistance provided to the affected child, and genetic counseling to the mothers.

Cobertura da testagem sorológica e prevalência da infecção pelo HIV entre gestantes do Estado de Mato Grosso do Sul, Brasil, 1999 a 2003

Summary The purpose of this research is to show the impact that the Pregnancy Protection Programme hash on the number of women tested for HIV in the prenatal period during the first year of the programme compared to previous years. The methods used were collection of a blood sample (obtained by finger prick) on five discs of filter paper (S&5903). Initial ELISA testing was done, followed by confirmatory tests: ELISA, Western-Blot and PCR-test in a separate sample of blood collected by venous puncture. Those submitted from pregnant women for HIV-testing included: 496/41,859 (1.18%) pregnant in 1999, 6.448/41,270(16.01%) in 2000, 6,627/39,629 (16.72%) in 2001, 11,330/39,731(28.51%) in 2002, and 32,512/39,183 (83.00%) in 2003. The coverage reached was also due to the facility and practicality of collecting material in the public health services, rural and indigenous populations using filter-paper, which has contributed to the increase of HIV-infected women, who were diagnosed making prevention, prophylactic and therapeutic procedures possible, reducing HIV vertical transmission, and consequently the maternal and infant morbidity and mortality for AIDS.