Predictive value of common genetic variants in idiopathic pulmonary fibrosis survival.

Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive, fibrosing interstitial pneumonia of unknown etiology. The role of genetic risk factors has been the focus of numerous studies probing for associations of genetic variants with IPF. We aimed to determine whether single-nucleotide polymorphisms (SNPs) of four candidate genes are associated with IPF susceptibility and survival in a Portuguese population.

Liquid Biopsy for Disease Monitoring in Non-Small Cell Lung Cancer: The Link between Biology and the Clinic.

Introduction: Cell-free DNA (cfDNA) analysis offers a non-invasive method to identify sensitising and resistance mutations in advanced Non-Small Cell Lung Cancer (NSCLC) patients. Next-generation sequencing (NGS) of circulating free DNA (cfDNA) is a valuable tool for mutations detection and disease's clonal monitoring.

Material And Methods: An amplicon-based targeted gene NGS panel was used to analyse 101 plasma samples of advanced non-small cell lung cancer (NSCLC) patients with known oncogenic mutations, mostly EGFR mutations, serially collected at different clinically relevant time points of the disease.

Asthma management with breath-triggered inhalers: innovation through design.

Background: Asthma affects the lives of hundred million people around the World. Despite notable progresses in disease management, asthma control remains largely insufficient worldwide, influencing patients' wellbeing and quality of life. Poor patient handling of inhaling devices has been identified as a major persistent problem that significantly reduces inhaled drugs' efficacy and is associated with poor adherence to treatment, impairing clinical results such as asthma control and increasing disease-related costs.

Targeted Gene Next-Generation Sequencing Panel in Patients with Advanced Lung Adenocarcinoma: Paving the Way for Clinical Implementation.

Identification of targetable molecular changes is essential for selecting appropriate treatment in patients with advanced lung adenocarcinoma. : In this study, a Sanger sequencing plus Fluorescence In Situ Hybridization (FISH) sequential approach was compared with a Next-Generation Sequencing (NGS)-based approach for the detection of actionable genomic mutations in an experimental cohort (EC) of 117 patients with advanced lung adenocarcinoma. Its applicability was assessed in small biopsies and cytology specimens previously tested for epidermal growth factor receptor (EGFR) and anaplastic lymphoma kinase (ALK) mutational status, comparing the molecular changes identified and the impact on clinical outcomes.

Lipid profile after long-term APAP in OSA patients.

Purpose: This study aimed to explore the impact of an 8-year therapy with autoadjusting positive airway pressure (APAP) on fasting lipid level in a sample of Portuguese moderate/severe obstructive sleep apnea (OSA) patients. Besides contributing to the comprehension of the complex relationship between dyslipidemia and OSA, it provided new data regarding the effectiveness of a long term APAP treatment.

Methods: Thirty-nine male patients with moderate to severe OSA were included in the study.

APAP impact on metabolic syndrome in obstructive sleep apnea patients.

Purpose: Prevalence of metabolic syndrome (MS) in obstructive sleep apnea (OSA) patients is high. The effect of autoadjusting positive airway pressure (APAP) on MS remains unclear. This study aimed to determine the prevalence of MS in OSA patients before and 6 months after APAP, and to identify potential determinants of metabolic status change.

[Tuberculosis in hospital department health care workers].

Introduction: Tuberculosis (TB) is considered an occupational disease in health care workers (HCW) and its transmission in health care facilities is an important concern. Some hospital departments are at higher risk of infection.

Objective: To describe TB cases detected after TB screening in HCW from a hospital department (Ear, Nose and Throat - ENT) who had had contact with active TB cases.