Despite recent improvements, α1-antitrypsin deficiency (AATD) remains a rarely diagnosed and treated condition. To assess the variability of AATD diagnosis/treatment in Europe, and to evaluate clinicians’ views on methods to optimise management, specialist AATD clinicians were invited to complete a web-based survey.Surveys were completed by 15 physicians from 14 centres in 13 European countries. All respondents perceived the AATD diagnosis rate to be low in their country; 77% of physicians believed that ∼15% of cases were diagnosed. Low awareness was perceived as the greatest barrier to diagnosis. Spirometry was considered more practical than quantitative computed tomography (QCT) for monitoring AATD patients in clinical practice; QCT was considered more useful in trials. AAT therapy provision was reported to be highly variable: France and Germany were reported to treat the highest proportion (∼60%) of diagnosed patients, in contrast to the UK and Hungary, where virtually no patients receive AAT therapy. Most clinicians supported self-administration and extended dosing intervals to improve convenience of AAT therapy.This survey indicates that AATD diagnosis and management are highly heterogeneous in Europe; European cooperation is essential to generate data to support access to AAT therapy. Improving convenience of AAT therapy is an ongoing objective.

The lung is a complex ecosystem of host cells and microbes often disrupted in pathological conditions. Although bacteria have been hypothesized as agents of carcinogenesis, little is known about microbiota profile of the most prevalent cancer subtypes: adenocarcinoma (ADC) and squamous cell carcinoma (SCC). To characterize lung cancer (LC) microbiota a first a screening was performed through a pooled sequencing approach of 16S ribosomal RNA gene (V3-V6) using a total of 103 bronchoalveaolar lavage fluid samples. Then, identified taxa were used to inspect 1009 cases from The Cancer Genome Atlas and to annotate tumor unmapped RNAseq reads. Microbial diversity was analyzed per cancer subtype, history of cigarette smoking and airflow obstruction, among other clinical data. We show that LC microbiota is enriched in Proteobacteria and more diverse in SCC than ADC, particularly in males and heavier smokers. High frequencies of Proteobacteria were found to discriminate a major cluster, further subdivided into well-defined communities’ associated with either ADC or SCC. Here, a SCC subcluster differing from other cases by a worse survival was correlated with several Enterobacteriaceae. Overall, this study provides first evidence for a correlation between lung microbiota and cancer subtype and for its influence on patient life expectancy.

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Continuous positive airway pressure (CPAP) remains the best treatment for sleep apnoea syndrome (SAS). In the 1990s, many authors reported on daily compliance, but all of the studies utilised relatively short periods of follow-up that did not exceed a few years.The mean annual rate of CPAP use in patients with SAS was prospectively recorded. In the current study, the results are presented along with compliance data from patients who started CPAP between 1991 and 1998 and were still using it by the end of 2003. The cohort was chosen in order to obtain o5 yrs of follow-up for each patient. In total, there were 204 patients. For the whole group, mean¡SD compliance reached 321¡90 and 393¡84 min after 1 and 10 yrs, respectively.There was no significant change in the first 2 yrs, with a significant increase from the third year onwards. Compliance, or its evolution over time, was not correlated either to the baseline polysomnographical data (except slightly for the CPAP pressure), to the difference of these data before and under CPAP therapy, to the age of retirement or to changes in the marital status.In conclusion, very long-term compliance with continuous positive airway pressure increases by a mean of 8 min?day -1 per year of follow-up in patients with sleep apnoea syndrome.

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Alpha-1 antitrypsin deficiency (AATD) is highly prevalent in Portugal. It is estimated that 1:5249 individuals have a ZZ genotype, and 1:281 have a SZ genotype [1]. Patients with AATD have recently been proposed as a susceptible population for COVID-19 and disease severity [2]. Data from an Italian registry of AATD revealed a geographical distribution of AATD similar to that of . A significant positive correlation was reported between the combined frequencies of the PI*SZ genotype in 67 countries and their reported COVID-19 mortality [4]. In January 2021, Portugal presented one of the highest incidences of SARS-CoV-2 infection and mortality in the world [5].Based on these assumptions and in an attempt to address the risk of COVID-19 infection in a Portuguese cohort, we gathered data from all AATD patients followed at Pulmonology consultation in our tertiary hospital in Porto. In Portugal there is a national COVID-19 status database where all SARS-CoV-2 swab results are registered. We checked all our AATD patients' SARS-CoV-2 positive results until the end of January 2021. AATD patients with a diagnosis of COVID-19 were compared with the remaining AATD cohort regarding pre-infection α1-antitrypsin

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BackgroundDetermining physicians’ awareness about alpha-1 antitrypsin (AAT) deficiency (AATD) may help to explain the discrepancy between the observed and expected number of patients diagnosed with this disease.This study was designed to assess the opinions on knowledge, practice pattern and attitude regarding AATD among physicians in Spain and Portugal.MethodsAn online anonymous survey was performed on pulmonologists (n = 100), internal medicine specialists (IMS) (n = 100) and primary care physicians (PCP) (n = 176). Of the total number of physicians, 221 were from Spain, and 155 were from Portugal. Physicians answered 21 questions related to their personal and professional profile, knowledge regarding AATD and chronic obstructive pulmonary disease (COPD), performance and attitude about AATD, and use of augmentation therapy. Responses were ranked on a 4-point scale indicating the level of agreement. In addition, some of the responses were rated as either “low” or “high” indicating the level of knowledge the respondent felt he/she possessed.ResultsOnly 14 % of physicians reported to “know very well” about AATD (3.3 [SD 0.6] for pulmonologists vs. 2.64 [SD 0.60] for IMS and 2.48 [SD 0.71] for PCP; p < 0.001). Only 45.2 % of physicians correctly answered “<50 mg/dL” as the threshold value of serum AAT to be considered severe AATD (55.0 % of pulmonologists vs. 47.0 % of IMS and 38.6 % of PCP; p = 0.001). Choice of the correct answer did not agree with those physicians self-declaring a high level of AATD knowledge (51.2 %). A total of 43.9 % of physicians correctly identified all diseases or conditions in a list associated or not with AATD. A similar trend was detected when identifying which conditions would be responsive to augmentation therapy (<50 %). Only 15.8 % of specialists performed AATD testing in all patients with COPD (27.0 % pulmonologists, 12.6 % PCP; p = 0.001).ConclusionThe results suggest that a knowledge gap may be contributing to the underdiagnosis of AATD. Physicians in Spain and Portugal showed a marked lack of awareness of their shortcomings in knowledge about AATD, and in general did not follow guidelines and recommendations for AATD testing.