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.

Keywords: Non-Small Cell Lung Cancer, Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration, Sequential Molecular Profiling, Massively Parallel Next-Generation Sequencing, Actionable Mutations, Personalized Therap

Objective: Given that ß2 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.

Keywords: Bronchodilator agents; Beta-2 adrenergic receptor; Genetic variation;; Asthma; Ethnic groups

Objective: To evaluate clinical, functional, and CT characteristics, as well as disease progression, in patients with idiopathic inflammatory myopathy-associated interstitial lung disease (IIM-ILD) treated at a referral center in Brazil. Methods: This was a retrospective cohort study analyzing demographic characteristics, clinical variables, pulmonary function test results, HRCT findings, serological profiles, treatments, and outcomes. Results: Seventy-nine IIM-ILD patients were included in the present study. The mean follow-up period was 8.7 ± 4.7 years. The most common diagnosis was antisynthetase syndrome, observed in 51 (64.5%) of the 79 patients. The most common symptoms were dyspnea (in 94.9%), arthralgia (in 82.2%), and muscle weakness (in 75.9%). Mean baseline FVC was 2.19 ± 0.75 L, corresponding to 62.5% of the predicted value. During follow-up, FVC showed significant improvement. The most common CT patterns were indeterminate (in 44.4%) and nonspecific interstitial pneumonia (in 35.4%). Treatment most frequently included prednisone (in 98.7%), azathioprine (in 92.3%), or methotrexate (in 57.7%). Overall survival was 84.8%. Mortality was higher among patients who developed pulmonary hypertension and those who required intravenous methylprednisolone pulse therapy. Conclusions: Most patients with IIM-ILD progress well with immunosuppressive therapy. Pulmonary hypertension and the need for methylprednisolone pulse therapy appear to be associated with higher mortality.

Keywords: Lung diseases, interstitial; Myositis; Antisynthetase syndrome; Tomography; Spirometry.

Objective: To evaluate tuberculosis diagnosis with the use of the lateral flow urine lipoarabinomannan assay (LF-LAM) in addition to the Xpert® MTB/RIF Ultra assay on sputum in HIV-positive inpatients and outpatients. Methods: This was a prospective cross-sectional study including HIV-positive patients = 18 years of age with an indication for LF-LAM in accordance with Brazilian National Ministry of Health criteria. Results: A total of 140 patients were included in the study. LF-LAM was positive in 23 (16.4%). An additional 12 (8.6%) were diagnosed with the aid of LF-LAM, this increase in tuberculosis detection being statistically significant. LF-LAM-positive patients were younger and had lower CD4 counts in comparison with LF-LAM-negative patients. Smoking was more common among LF-LAM-negative patients than among LF-LAM-positive patients. Conclusions: The use of LF-LAM significantly increases the detection of tuberculosis in HIV-positive patients, mostly in those who are hospitalized. These findings highlight the utility of LF-LAM, especially in regions with high tuberculosis and HIV infection incidence.

Keywords: Tuberculosis; Mycobacterium tuberculosis; HIV infections; Diagnosis.

Objective: To establish reference values and prediction equations for the strength index (S-Index), in order to meet the growing demand for clinical application and diagnostic understanding of maximal dynamic inspiratory pressure. Methods: This was a prospective study of 120 healthy subjects between 18 and 80 years of age. The S-Index, measured from RV to TLC after at least eight reproducible maximal maneuvers with a < 10% difference, was obtained. The MIP was also measured, and differences between S-Index and MIP values were analyzed. A multiple linear regression model estimating the S-Index value was based on clinically significant independent variables. For model cross-validation and diagnostic accuracy, we used a separate sample of COVID-19 survivors to compare the observed and predicted S-Index values. Results: The S-Index strongly correlated with the FEV1 and FVC. However, sex, age, weight, and height retained their significance in all final models, collectively explaining 62% of the variation in the observed values. The performance of the prediction equation was satisfactory in suggesting differences between COVID-19 survivors with an MIP < 80 cmH2O and those with an MIP = 80 cmH2O. For both sexes, the S-Index exhibited the potential for ruling out, rather than confirming, inspiratory muscle weakness. If below the lower limit of normal, further evaluation is important, especially in men. Conclusions: To our knowledge, this is the first set of reference equations for the S-Index based on a healthy adult population across various age groups in Brazil. Its potential as an adjunct index in evaluating inspiratory muscle strength was also explored for the first time.

Keywords: Maximal respiratory pressures; Muscle strength; Respiratory muscles.