Tatiana Rozov

Linguistic validation of cystic fibrosis quality of life questionnaires

OBJECTIVE The purpose of this study was to validate the Portuguese translations of four cystic fibrosis quality of life questionnaires (CFQ). The first three were developed for patients with cystic fibrosis aged from 6 to 11 years, from 12 to 13 years and 14 years or more, while the fourth was developed for the parents of patients aged 6 to 13 years. MATERIAL AND METHODS The four CFQ translations contained from 35 to 50 questions covering nine domains and were validated as follows: translation from English to Portuguese, pilot application, back translation and then approval by the author of the English versions. The four translations were applied to 90 stable patients (30 from each age group) and the parents of patients aged 6-13 years (n = 60), on two occasions with a 13 to 17 day interval. Intraclass Correlation Coefficients (ICC) were used to measure reproducibility. This study was approved by the Commission for Ethics in Research at the institution. RESULTS Reproducibility was good (ICC = 0.62 to 0.99) for the four translations in all domains, with the exceptions of the Digestion domain for the 6 to 11 and 12 to 13 years age groups with ICC = 0.59 and 0.47, respectively and the Social Role domain for the 14 and over age group (ICC = -0.19 ). CONCLUSION The translation and cultural adaptation for Brazil resulted in four CFQ versions that are easy to understand and offer good reproducibility.

Cystic fibrosis with normal sweat chloride concentration--case report.

Cystic fibrosis is a genetic disease usually diagnosed by abnormal sweat testing. We report a case of an 18-year-old female with bronchiectasis, chronic P. aeruginosa infection, and normal sweat chloride concentrations who experienced rapid decrease of lung function and clinical deterioration despite treatment. Given the high suspicion of cystic fibrosis, broad genotyping testing was performed, showing a compound heterozygous with deltaF508 and 3849+10 kb C-->T mutations, therefore confirming cystic fibrosis diagnosis. Although the sweat chloride test remains the gold standard for the diagnosis of cystic fibrosis, alternative diagnostic tests such as genotyping and electrophysiologic measurements must be performed if there is suspicion of cystic fibrosis, despite normal or borderline sweat chloride levels.

Nutritional supplementation in patients with cystic fibrosis

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.

Laboratorial tests in pulmonary diseases

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.

Tuberculin test in the diagnosis of childhood tuberculosis

Tanto o critério clínico quanto o radiológico não são patognomônicos e podem ser tradução de outras doenças, não específicas, em pediatria, tornando o diagnóstico diferencial com tuberculose, freqüentemente, bastante problemático1,3. Assim, o terceiro critério é importante, na suspeita diagnóstica, e a maneira mais eficaz de se encontrar crianças infectadas pela M.tuberculosis é através da investigação epidemiológica cuidadosa dos comunicantes dos adultos com Tb bacilífera4. A investigação do contato domiciliar pode ser positiva em até 70% das crianças com Tb pulmonar e em 80% das com meningite tuberculosa5. Atualmente existe uma extensa literatura, internacional e nacional, relativa aos métodos laboratoriais de diagnóstico da Tb em criança, recentemente revista, de forma crítica, por Lee6. Na síntese dessa revisão, entre os diversos métodos diagnósticos disponíveis, o teste tuberculínico (Mantoux) é citado como um método simples, de baixo custo, de boa sensibilidade e especificidade (cerca de 90%) em suspeitos de Tb sem BCG prévio. O resultado é influenciado por vários fatores, principalmente pela vacinação com BCG em nosso meio. As reações maiores que 10mm devem ser consideradas sugestivas de infecção pelo M.tuberculosis nos indivíduos não vacinados com o BCG ou naqueles vacinados há mais de 2 anos. As reações maiores que 15mm, independentemente da época de vacinação, devem ser consideradas decorrentes de infecção pelo M.tuberculosis. Nos pacientes infectados pelo HIV ou nos doentes com AIDS, o PPD > 5mm é definido como uma reação positiva. Em conclusão, o teste tuberculínico é um método complementar, prevalecendo os dados clínicos, epidemiológicos, bacteriológicos e radiológicos para o diagnóstico de Tb na criança. Não foram discutidos os aspectos qualitativos do teste tuberculínico, nessa revisão.