Publications by authors named "Estrella Drobnic"
Article Synopsis
- - The study investigates the frequency of rare SERPINA1 mutations to improve management strategies for alpha1 antitrypsin deficiency (AATD), based on a secondary analysis of a large sample of 30,827 individuals across six countries.
- - Researchers utilized the Progenika A1AT Genotyping Test, discovering that 2.6% of cases had rare alleles, with the majority being heterozygous and a few homozygous; however, some expected mutations were not detected in the tested samples.
- - The findings reveal new insights into the distribution of rare alleles and suggest the need for more comprehensive testing and research to understand their pathogenic effects in different populations.
Introduction: Currently, strategies for improving alpha1 antitrypsin deficiency (AATD) diagnosis are needed. Here we report the performance of a multinational multiplex-based genotyping test on dried blood spots and buccal swabs sent by post or courier and with web registration for subjects with suspected AATD in Argentina, Brazil, Chile, Colombia, Spain, and Turkey.
Methods: This was an observational, cross-sectional analysis of samples from patients with suspected AATD from March 2018 to January 2022.
Results of a Diagnostic Procedure Based on Multiplex Technology on Dried Blood Spots and Buccal Swabs for Subjects With Suspected Alpha1 Antitrypsin Deficiency.
Arch Bronconeumol (Engl Ed)
January 2021
Introduction: The objective of this analysis was the evaluation of a new national circuit used for diagnosing alpha1 antitrypsin deficiency (AATD) based on multiplex technology using online registration and mail posted samples from dried blood spots (DBS) and buccal swabs.
Methods: This is an observational, ongoing study conducted in Spain since March 2018. Samples are coded on a web platform and sent by postal mail to the central laboratory.
Background And Objectives: The natural history of life-threatening hemoptysis (LTH), a medical emergency, is ill defined. The objective of the study was to evaluate, in a university teaching hospital setting, the etiology, methods used, and evolution of LTH.
Patients And Methods: Prospective study in which we enrolled 154 patients admitted for LTH over 3 consecutive years.
Economy class syndrome describes the situation of patients who suffer pulmonary embolism following prolonged immobility in a long distance flight. The objective of the present study was to analyze whether there is a risk of pulmonary thromboembolism after a long overland journey. The study consecutively enrolled 100 patients diagnosed with pulmonary thromboembolism.
View Article and Find Full Text PDFBackground: Non-cystic fibrosis (CF) patients with bronchiectasis usually develop chronic bronchial infection with Pseudomonas aeruginosa (PA) that is related to worsening lung function and increased morbidity and mortality.
Objective: To determine whether direct aerosol delivery of tobramycin to the lower airways may control infection and produce only low systemic toxicity.
Methods: A double-blind, placebo-controlled crossover trial involving 30 patients was conducted to determine the clinical effectiveness and safety of 6-month tobramycin inhalation therapy.