Jornal Brasileiro De Pneumologia最新文献

Objective: Given that b2 agonists constitute the primary treatment for asthma and that treatment response varies as a result of polymorphisms in the ADRB2 gene, we sought to investigate the associations between ADRB2 gene variants and bronchodilator response (BDR) in asthma patients.

Methods: A genetic database comprising 813 individuals was analyzed for variants in the ADRB2 gene. A longitudinal analysis of severe asthma patients was performed to evaluate changes in BDR over time.

Results: The rs1042713, rs1042714, and rs1042717 variants were associated with age-related changes in BDR in patients with severe asthma. The G allele (rs1042714) and the A allele (rs1042717) were associated with uncontrolled asthma, with carriers of the G46/G79/A252 alleles showing a higher risk of difficult-to-control asthma. Notably, no association was found between these variants and ADRB2 expression levels.

Conclusions: Our findings suggest that a genetic panel including ADRB2 variants, as well as age-related differences in BDR, is a useful complementary tool in asthma management.

Objectives: The advent of massively parallel next-generation sequencing (MP-NGS) offers potential advantages over sequential molecular profiling (SMP) in the management of non-small cell lung cancer (NSCLC). This study compares the two methodologies using samples obtained through endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA), focusing on actionable mutation detection, turnaround time (TAT), and clinical outcomes.

Methods: A retrospective analysis was conducted on NSCLC patients who underwent EBUS-TBNA and molecular characterization between January 2020 and December 2023. SMP and MP-NGS were compared in terms of actionable mutation detection rates, TAT, and impact on overall survival (OS).

Results: Among 106 patients, MP-NGS demonstrated a significantly higher detection rate of actionable mutations compared to SMP (40.9% vs. 22.2%, p=0.042). The median TAT was slightly shorter with SMP than with externally outsourced MP-NGS (17 days vs. 23 days, p=0.076). Patients diagnosed via MP-NGS were more frequently allocated to targeted therapies (44.26% vs. 22.2%, p=0.038), which may have positively influenced overall survival (672 days vs. 138 days, p=0.053).

Conclusion: MP-NGS provided superior diagnostic and clinical advantages over SMP in NSCLC, supporting its adoption as a standard diagnostic approach to enhance personalized therapy and improve patient outcomes.

Venous thromboembolism (VTE) is the third most common acute cardiovascular syndrome after acute myocardial infarction and stroke. In recent years, there has been an increase in the incidence of VTE, related to population aging and common comorbidities in the elderly, including chronic cardiorespiratory disease and cancer. On the other hand, disease-related mortality, particularly for pulmonary embolism (PE), shows a decreasing trend, which can be explained by improvements in diagnostic imaging, advances in available therapies, and greater adherence to patient management protocols. The guidelines presented here provide recommendations for the pharmacological treatment of PE in Brazil, on the basis of scientific evidence and with a focus on common practical issues. Six Patient, Intervention, Comparison, and Outcome questions were developed by a group of experts on the topic. Systematic reviews of randomized clinical trials were conducted for each question, with meta-analyses being performed when possible. The level of evidence and strength of recommendation were defined in accordance with the Grading of Recommendations Assessment, Development, and Evaluation approach. With these guidelines, we expect to provide relevant, up-to-date information on the pharmacological treatment of PE.

Objective: Tuberculosis (TB) is an infectious disease caused by the bacillus Mycobacterium tuberculosis, which was recognized by the World Health Organization (WHO) as a global epidemic in 1993. TB is the leading infectious disease associated with silicosis, with studies showing an increased risk when compared to healthy individuals. We conducted an association study to evaluate the influence of polymorphisms in the ACE, FAM13A, FAS, FASLG, IL1RN, NOS2, TGFB1, and TNF genes on TB susceptibility.

Methods: Nine polymorphisms were genotyped using Polymerase Chain Reaction (PCR) in a sample of 143 patients with silicosis in Rio de Janeiro (RJ), Brazil.

Results: Seventy (49%) patients had a confirmed prior diagnosis of TB, of whom 25 (35.7%) had simple silicosis and 45 (64.3%) had complicated silicosis. The TG genotype of rs2609255 in FAM13A showed a protective effect against TB (OR=0.46; 95% CI: 0.22-0.98; p=0.040) compared to the GG genotype, and also when compared to the two combined homozygous genotypes (TT+GG) (OR=0.43; 95% CI: 0.20-0.90; p=0.024). Logistic regression analysis, including independent clinical variables, confirmed the protective effect of the TG genotype.

Conclusion: This study suggests that the rs2609255 polymorphism in FAM13A may play a role in TB risk among patients with silicosis. Given the limited research on genetic polymorphisms and TB susceptibility in silicosis patients, further studies are needed to validate these findings.