BackgroundAlpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which some aspects remain unresolved.MethodsIn this review, we summarise and update current knowledge on alpha-1 antitrypsin deficiency in order to identify and discuss areas of controversy and formulate questions that need further research.Results1) AATD is a highly underdiagnosed condition. Over 120,000 European individuals are estimated to have severe AATD and more than 90% of them are underdiagnosed.Conclusions2) Several clinical and etiological aspects of the disease are yet to be resolved. New strategies for early detection and biomarkers for patient outcome prediction are needed to reduce morbidity and mortality in these patients; 3) Augmentation therapy is the only specific approved therapy that has shown clinical efficacy in delaying the progression of emphysema. Regrettably, some countries reject registration and reimbursement for this treatment because of the lack of larger randomised, placebo-controlled trials. 4) Alternative strategies are currently being investigated, including the use of gene therapy or induced pluripotent stem cells, and non-augmentation strategies to prevent AAT polymerisation inside hepatocytes.
The aim of the study was to assess the effect of residential radon exposure on the risk of lung cancer in never-smokers and to ascertain if environmental tobacco smoke modifies the effect of residential radon.We designed a multicentre hospital-based case-control study in a radon-prone area (Galicia, Spain). All participants were never-smokers. Cases had an anatomopathologically confirmed primary lung cancer and controls were recruited from individuals undergoing minor, non-oncological surgery. Residential radon was measured using alpha track detectors.We included 521 individuals, 192 cases and 329 controls, 21% were males. We observed an odds ratio of 2.42 (95% CI 1.45-4.06) for individuals exposed to o200 Bq?m -3 compared with those exposed to ,100 Bq?m -3 . Environmental tobacco smoke exposure at home increased lung cancer risk in individuals with radon exposure .200 Bq?m -3 . Individuals exposed to environmental tobacco smoke and to radon concentrations .200 Bq?m -3 had higher lung cancer risk than those exposed to lower radon concentrations and exposed to environmental tobacco smoke.Residential radon increases lung cancer risk in never-smokers. An association between residential radon exposure and environmental tobacco smoke on the risk of lung cancer might exist. @ERSpublications Residential radon exposure increases risk of lung cancer in never-smokers, ETS exposure may raise radon effect
Three to four months after hospitalisation for COVID-19 pneumonia, the most frequently described alteration in respiratory function tests (RFTs) is decreased carbon monoxide transfer capacity (DLCO). Methods: This is a prospective cohort study that included patients hospitalised because of SARS-CoV-2 pneumonia, three months after their discharge. A clinical evaluation, analytical parameters, chest X-ray, six-minute walk test, spirometry and DLCO–DLNO analysis were performed. Demographic variables, comorbidities, and variables related to the severity of the admission were recorded. Results: Two hundred patients completed the study; 59.5% men, age 62 years, 15.5% admitted to the intensive care unit. The most frequent functional alteration, in 27% of patients, was in the DLCO–DLNO combination. This alteration was associated with age, male sex, degree of dyspnoea, poorer perception of health, and limited ability for physical effort. These patients also presented higher levels of D-Dimer and more residual radiological alterations. In 42% of the patients with diffusion alterations, only reduced DLNO was presented, along with lower D-Dimer levels and less capillary volume involvement. The severity of the process was associated with the reduction in DLCO–DLNO. Conclusions: The most sensitive RFT for the detection of the sequelae of COVID-19 pneumonia was the combined measurement of DLCO–DLNO and this factor was related to patient health status and their capacity for physical exertion. In 40% of these cases, there was only a reduction in DLNO, a finding that may indicate less pulmonary vascular involvement.
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