Prevalence of asthma and allergies in 13- to 14-year-old adolescents and the frequency of risk factors in carriers of current asthma in Taubaté, São Paulo, Brazil.

BACKGROUND: The objectives of this study were to determine the prevalence of asthma and allergies in 13- to 14-year-old adolescents in the city of Taubaté, São Paulo, Brazil using the INTERNATIONAL STUDY OF ASTHMA AND ALLERGIES IN CHILDHOOD (ISAAC) questionnaire and to describe the presence of risk factors in current asthma carriers. METHODS: We used a cross-sectional study involving 920 adolescents who completed the ISAAC questionnaire and answered additional questions regarding smoking and the presence of pets and/or insects at home. RESULTS: The mean prevalence rate of "current asthma" was 15.3% and "asthma ever" was 6.8%. The mean prevalence rate of "current rhinitis" was 36.6% and "rhinitis ever" 37.6%. The prevalence of "eczema ever" was 16.2%. The frequency of active smoking was low (0.7%), and the presence of indoor animals (34%) and of insects (55.1%) was high. CONCLUSIONS: The prevalence of "current asthma" was twice as high as that of "asthma ever". There was no association between risk factors studied and current asthma.

Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil.

Cystic fibrosis (CF) is an autosomal recessive disease caused by at least 750 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of the most common mutation (DF508) in Brazilian patients of European origin is 47%. To determine the frequency of 4 other common CF mutations (G542X, G551D, R553X, and N1303K) in Brazilian patients of European origin, we used direct polymerase chain reaction (PCR) amplification of DNA obtained from dried blood spots on Guthrie cards. The DNA came from 247 non-DF508 chromosomes from 172 Brazilian CF patients ascertained from 5 different states of Brazil. The results show that the 4 mutations account for 17% of the non-DF508 alleles and only 9% of the total number of Brazilian CF alleles. Overall, the frequency of each mutation is different from northern European and North American populations but similar to southern European populations, mainly the Italian and Spanish populations. When Brazilian patients of European origin are grouped according to state of birth, the frequencies of the mutations are significantly different between southern and southeastern states of Brazil. Therefore there are serious implication for risk assessment of DNA-based tests in heterogeneous populations such as Brazilians. Further studies are needed to identify the remaining 44% of CF mutations for the different populations and regions of Brazil.

[A comparative study of clinical score and lung function tests in the classification of asthma by severity of disease]. / Estudo comparativo entre o escore clínico e os testes de função pulmonar na classificação da gravidade da asma.

Fifty nine asthmatic children and adolescents, clinically stable, aged 6 to 15 years, 37 boys and 22 girls, from Instituto da Criança do Hospital das Clínicas da FMUSP, were studied from September to November, 1994. The patients were classified by the clinical score of the International Consensus for Asthma Diagnosis and Management. They performed baseline spirometry and peak expiratory flow rates (PEFR), before and after bronchodilator, and measured PEFR three times a day (6 pm, at bedtime and on waking), for one day, at home. Five PEF measurements were made serially and the best readings were considered. Variability of PFE was calculated for 24 hours, as assessed by maximal amplitude. The results were summited to statistical analysis of the Laboratorio de Informática Médica da Faculdade de Medicina da USP. The results of PEFR and it's variability were compared to spirometry, (functional score, FEV1-forced expiratory volume in the first second) and to the clinical score of the International Consensus for Asthma Diagnosis and Management. In case of disagreement between the clinical parameters, the more severe one was chosen. The clinical score classified 20.3% of our patients as mild obstruction, 49.2% as moderate and 30.5% as severely compromised. According to FEV1, 58% of patients were classified as normal while the PEFR and its variability classified as normal 76% and 71%. The PEFR and it's variability in 24 hours, correlated with the VEF1, as gold standard, showed good specificity, 91% and 76% respectively and low sensibility, 44% and 32%. It was detected a low level of agreement between FEV1, PEFR and it's variability in 24 hours, in the clinical severity classification of asthma. The results of this study showed that FEV1 and PEFR had a low level of agreement in the clinical severity classification of asthma and when they were correlated to the clinical score of the International Consensus, they both presented low sensitivity.

[Laboratorial tests in pulmonary diseases] / O laboratório nas doenças pulmonares.

OBJECTIVE: The authors present a review about the diagnosis of pulmonary diseases, with special emphasis on laboratorial procedures. METHODS: The most important articles about laboratorial procedures were selected through Medline search. RESULTS: To diagnose pulmonary diseases we need to evaluate clinical history, laboratorial tests, several radiografic techniques, bronchoscopy, thoracentesis and lung biopsy among others. We present the main laboratorial tests which include the clinical tests and pulmonary function evaluation to diagnose these diseases. CONCLUSION: The laboratorial tests are part of pulmonary tests diagnosis. The obtained results should be associated with clinical history and the other diagnostic methods.

Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution.

We have used PCR amplification of DNA obtained from Guthrie cards to identify the DF508 mutation and correlate it with the allele frequencies at two polymorphic loci (XV-2C and KM-19) closely linked to the cystic fibrosis gene. The DNA came from 193 white Brazilian families affected by cystic fibrosis and living in five different states of Brazil. The distribution of the haplotypes derived from the DF508 and non-DF508 XV-2C/KM-19 genotypes indicates that 88% of the DF508 alleles are linked to haplotype B and suggests that high heterogeneity exists among the non-DF508 cystic fibrosis alleles occurring in different states. Our data can be used to compare linkage disequilibrium between Brazilians and other heterogeneous populations where the DF508 mutation frequency is low and where many different rare mutations account for the remaining recessive cystic fibrosis alleles.

Regional distribution of cystic fibrosis-linked DNA haplotypes in Brazil: multicenter study.

The restriction fragment length polymorphism (RFLP) haplotypes of cystic fibrosis (CF) alleles vary between populations. To determine the distribution of two RFLPs (XV-2C and KM-19) that are tightly linked to the CF locus, we analyzed a white sample from five different states of Brazil. The haplotypes of 314 CF- and 237 non-CF-bearing chromosomes were uniformly distributed over the five states. The XV-2C allele and haplotype frequencies and the degree of linkage disequilibrium were determined. These were similar to values previously reported in southern European countries but different from results reported for northern and central Europe and North America. In contrast, although KM-19 allele frequencies differed between Brazilian states and European and North American countries, these frequencies were similar to values reported in black Americans. A significant proportion of Brazilian CF-bearing chromosomes had less common haplotypes, suggesting a heterogeneous distribution of CF gene mutations among Brazilians. Further studies are needed to identify the mutations affecting the Brazilian CF patients with various haplotypes.

[Nutritional supplementation in patients with cystic fibrosis]. / Suplementação dietética em pacientes com fibrose cística.

OBJECTIVE: To evaluated the effect of short-term oral supplementation in the nutritional status of 14 patients with cystic fibrosis in 19 hospital admissions. METHODS: All patients received standard pulmonary therapy, and to 13 patients (Group I = GI) a high-fat oral supplement was offered besides the standard diet. The control group (GII) received the same diet except for the supplement. Anthropometric measurements, quantitative assessment of energy intake and serum biochemical parameters were determined on admission and prior to discharge from hospital. RESULTS: There was no difference in the weight gain between groups (median: GI=+1000 g; GII=+550 g), nor in the variations of height, skinfolds and body fat. Z scores were calculated (mean-/+SD: weight/age, GI=-2.19-/+1.0, GII=-2.57-/+1.1; height/age, GI=-1.73-/+1.4, GII=-2.06-/+1.4 ), showing that those patients had chronic severe malnutrition, with no changes in Z Score in this period. The diet offered to the patients provided the RDA for calories only in the supplemented group, and this value was significantly higher compared to the non-supplemented group (mean -/+ SD : GI= 146-/+20% RDA; GII=105-/+13%RDA). The energy intake was significantly higher in group I (mean-/+SD: GI=126-/+22%RDA; GII= 81-/+27%RDA), and it increased significantly by the end of admission in this group. The biochemical assessment revealed low levels of prealbumin in both groups on admission (mean-/+SD: GI=11-/+10mg/dl; GII=8-/+8 mg/dl), with significant increase only in group I (mean-/+SD: GI=23-/+15 mg/dl; GII=8-/+11 mg/dl). No variations in the levels of triglycerides were observed, but the cholesterol levels increased significantly in both groups. CONCLUSIONS: Although the weight gain was similar in both groups, prealbumin increased only in the supplemented group. This group had a higher energy intake than the non-supplemented one, and it reached the RDA for calories.

DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards.

A 3 bp deletion of codon 508 (phenylalanine) of the cystic fibrosis (CF) gene constitutes the mutation of most CF chromosomes. The frequency of this mutation (referred to as delta F508), varies considerably between populations, ranging from 26% of the CF mutations in Turkey to 88% in Denmark. To determine the frequency of the delta F508 mutation in Brazilian Caucasoid CF patients, we used direct polymerase chain reaction (PCR) amplification of DNA obtained from dried blood spots on Guthrie cards, followed by ethidium bromide staining of gels. Although the overall frequency of the delta F508 mutation was 47% of 380 CF chromosomes from Brazilian Caucasoids born in five different states, significant interstate differences were observed, ranging from a delta F508 frequency of 27% to 53%. While our method could be used to screen patients and their relatives for carrier testing and prenatal diagnosis, the efficacy of screening only for the delta F508 mutation would be low, and would vary from state to state. Screening for a panel of local mutations will be needed to increase the mutation detection rate and optimize genetic counseling.

Estudo retrospectivo dos casos de tuberculose do Instituto da Crianca do Hospital das Clinicas da FMUSP durante 5 anos (1975-1979). / Retrospective study of cases of tuberculosis at the Instituto da Crianca do Hospital das Clinicas da FMUSP during 5 years (1975-1979)

Os autores apresentam os resultados no levantamento de 5 anos de criancas portadoras de tuberculose e atendidas no Instituto da Crianca do Hospital das Clinicas (1975-1979).Foram estudados 71 casos quanto a idade, estado nutricional, formas clinico-radiologicas tempo decorrido dos sintomas e o diagnostico da tuberculose. Os autores apresentam um protocolo para atendimento e seguimento de criancas portadoras de tuberculose ativa

Triagem da competencia imunitaria de criancas com infeccoes pulmonares de repeticao. / Screening tests of immunity competence in children with repetitive pulmonary infections

Os autores estudaram 19 criancas, 13 do sexo masculino e 6 do feminino, com idades entre 5 meses e 7 anos, com infeccoes pulmonares de repeticao, as quais apos afastadas outras causas, foram aplicados testes de triagem da competencia imunitaria, que constavam de leucograma, dosagens de imunoglobulinas sericas, porcentagem de linfocitos T e B, testes cutaneos de hipersensibilidade tardia e dosagem de C3 e C4. Foram encontrados 4 casos de deficiencia seletiva de IgA, sendo 2 casos transitorios; 3 casos de provavel hipogamaglobulinemia prolongada e 1 caso de deficiencia seletiva de IgM. Os testes de triagem aplicados serviram para diagnosticar as imunodeficiencias mais comuns na infancia que podem estar associadas a infeccoes pulmonares de repeticao