Brazilian Journal of Pulmonology

ISSN (on-line): 1806-3756 | ISSN (printed): 1806-3713


Publication continuous and bimonthly

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Validation and development of an immunonephelometric assay for the determination of alpha-1 antitrypsin levels in dried blood spots from patients with COPD

Desenvolvimento e validação de um método de imunonefelometria em amostras de sangue em papel-filtro para a dosagem da alfa-1 antitripsina em pacientes com DPOC

Laura Russo Zillmer, Rodrigo Russo, Beatriz Martins Manzano, Ivan Ivanaga, Oliver Augusto Nascimento, Altay Alves Lino de Souza, Gildo Santos Júnior, Francisco Rodriguez, Marc Miravitlles, José Roberto Jardim

J Bras Pneumol.2013;39(5):547-554

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Objective: To validate and develop an immunonephelometric assay for the determination of alpha-1 antitrypsin (AAT) levels in dried blood spots from COPD patients in Brazil. Methods: We determined AAT levels in serum samples and dried blood spots from 192 COPD patients. For the preparation of dried blood spots, a disk (diameter, 6 mm) was placed into a tube, eluted with 200 µL of PBS, and stored overnight at 4°C. All of the samples were analyzed by immunonephelometry in duplicate. We used the bootstrap resampling method in order to determine a cut-off point for AAT levels in dried blood spots. Results: The correlation coefficient between the AAT levels in serum samples and those in dried blood spots was r = 0.45. For dried blood spots, the cut-off value was 2.02 mg/dL (97% CI: 1.45-2.64 mg/dL), with a sensitivity, specificity, positive predictive value, and negative predictive value of 100%, 95.7%, 27.2%, and 100%, respectively. Conclusions: This method for the determination of AAT levels in dried blood spots appears to be a reliable screening tool for patients with AAT deficiency.


Gender differences in the perception of asthma and respiratory symptoms in a population sample of asthma patients in four Brazilian cities

Diferenças entre os sexos na percepção de asma e sintomas respiratórios em uma amostra populacional em quatro cidades brasileiras

Laura Russo Zillmer, Mariana Rodrigues Gazzotti, Oliver Augusto Nascimento, Federico Montealegre, James Fish, José Roberto Jardim

J Bras Pneumol.2014;40(6):591-598

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Objective: To evaluate the impact of asthma, by gender, in a population sample of asthma patients in Brazil. Methods: We conducted face-to-face interviews with 400 subjects (> 12 years of age) included in a national probability telephone sample of asthma patients in the Brazilian state capitals of São Paulo, Rio de Janeiro, Curitiba, and Salvador. Each of those 400 subjects completed a 53-item questionnaire that addressed five asthma domains: symptoms; impact of asthma on quality of life; perception of asthma control; exacerbations; and treatment/medication. Results: Of the 400 patients interviewed, 272 (68%) were female. In relation to respiratory symptoms, the proportion of women reporting extremely bothersome symptoms (cough with sputum, tightness in the chest, cough/shortness of breath/tightness in the chest during exercise, nocturnal shortness of breath, and nocturnal cough) was greater than was that of men. Daytime symptoms, such as cough, shortness of breath, wheezing, and tightness in the chest, were more common among women than among men. Women also more often reported that their asthma interfered with normal physical exertion, social activities, sleep, and life in general. Regarding the impact of asthma on quality of life, the proportion of subjects who reported that asthma caused them to feel that they had no control over their lives and affected the way that they felt about themselves was also greater among women than among men. Conclusions: Among women, asthma tends to be more symptomatic, as well as having a more pronounced effect on activities of daily living and on quality of life.


Keywords: Asthma/diagnosis; Asthma/prevention & control; Quality of life.


Prevalence of alpha-1 antitrypsin deficiency and allele frequency in patients with COPD in Brazil

Prevalência da deficiência de alfa-1 antitripsina e frequência alélica em pacientes com DPOC no Brasil

Rodrigo Russo1,2, Laura Russo Zillmer1, Oliver Augusto Nascimento1, Beatriz Manzano1, Ivan Teruaki Ivanaga1, Leandro Fritscher3, Fernando Lundgren4, Marc Miravitlles5, Heicilainy Del Carlos Gondim6, Gildo Santos Junior7, Marcela Amorim Alves4, Maria Vera Oliveira8, Altay Alves Lino de Souza9, Maria Penha Uchoa Sales10, José Roberto Jardim1

J Bras Pneumol.2016;42(5):311-316

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Objective: To determine the prevalence of alpha 1-antitrypsin (AAT) deficiency (AATD), as well as allele frequency, in COPD patients in Brazil. Methods: This was a cross-sectional study involving 926 COPD patients 40 years of age or older, from five Brazilian states. All patients underwent determination of AAT levels in dried blood spot (DBS) samples by nephelometry. Those with DBS AAT levels ≤ 2.64 mg/dL underwent determination of serum AAT levels. Those with serum AAT levels of < 113 mg/dL underwent genotyping. In case of conflicting results, SERPINA1 gene sequencing was performed. Results: Of the 926 COPD patients studied, 85 had DBS AAT levels ≤ 2.64 mg/dL, and 24 (2.6% of the study sample) had serum AAT levels of < 113 mg/dL. Genotype distribution in this subset of 24 patients was as follows: PI*MS, in 3 (12.5%); PI*MZ, in 13 (54.2%); PI*SZ, in 1 (4.2%); PI*SS, in 1 (4.2%); and PI*ZZ, in 6 (25.0%). In the sample as a whole, the overall prevalence of AATD was 2.8% and the prevalence of the PI*ZZ genotype (severe AATD) was 0.8% Conclusions: The prevalence of AATD in COPD patients in Brazil is similar to that found in most countries and reinforces the recommendation that AAT levels be measured in all COPD patients.


Keywords: alpha 1-antitrypsin deficiency/epidemiology; pulmonary disease, chronic obstructive/epidemiology; Alleles; alpha 1-antitrypsin.




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