Case report of a novel alpha1-antitrypsin null variant in Türkiye: Q0RIZE.

BACKGROUND: Alpha1-antitrypsin (AAT) is a serine protease inhibitor that serves as a counterbalance to the activity of elastases, e.g., neutrophil elastase in lung tissue. AAT deficiency (AATD) is a rare disorder usually arising from mutations to the SERPINA1 gene that codes for AAT. The most common AATD alleles are S and Z which produce ~ 40% and ~ 90% reductions in serum AAT, respectively. Rare genetic variants (> 500 identified) can also be associated with mild to severe AATD. RESULTS: This report describes a novel mutation of SERPINA1 producing AATD, which we have designated, Q0RIZE. This mutation was identified in a 44-year-old woman admitted with massive hemoptysis and treated with bronchial artery embolization. Computed tomography revealed centriacinar and panacinar emphysema with prominent air entrapment, atelectasis, and localized bronchiectasis. Serum AAT was < 0.27 g/L (below detection limit). Genetic analysis showed homozygous deletion of exons I to III. CONCLUSIONS: Although many SERPINA1 variants have been identified, variants with large deletions and identified in a homozygous individual, as seen in this case with Q0RIZE, are uncommon. AATD is an underdiagnosed and undertreated disease. Wider screening of COPD patients could result in earlier diagnosis and treatment that could preserve lung function.

Neglecting the neglected: Tobacco cessation support is essential for the management of asthma and COPD.

INTRODUCTION: Asthma and COPD management have a broad framework, and smoking cessation plays an essential role. We examine the management of asthma and COPD patients not only for inhaler treatment options but also for essential interventions, such as smoking cessation support. METHODS: Data were collected cross-sectionally from pulmonology departments of three government hospitals in Türkiye between May and September 2022. Patients aged ≥18 years who had been diagnosed with asthma or COPD for at least a year, were included in the study. The demographic and clinical characteristics of the patients were investigated. Routine cessation interventions were implemented for current smokers, and they were followed via phone calls after one month regarding their quit status and access to cessation clinics. RESULTS: Data from 145 patients with asthma and 148 patients with COPD were analyzed. The rate of current smoking among patients with asthma and COPD was 18.8% and 34.5%, respectively. Current smoking was negatively associated with age (<65 years) and disease duration (years) for both diseases (p<0.05). In addition, for asthmatics, presence of pulmonary disease in the family (OR:0.28, 95% CI: 0.10-0.79) and for COPD patients presence of hospitalization (OR: 0.26, 95% CI: 0.07-0.93) were negatively associated with current smoking. After one month, 85.1% of current asthmatic smokers had not tried to call a quitline, while 14.8% had tried to contact a quitline. Among current smoker COPD patients, only 1.9% had visited a smoking cessation clinic. CONCLUSIONS: Tobacco cessation support seems to be neglected in asthma and COPD management. Instead, pulmonologists and patients focus on pharmaceutical treatments, which constitute the other component of care.

Characteristics of asthma in an older adult population according to sex and control level: why are asthma symptoms in older women not well-controlled?

OBJECTIVE: The older adult population in Turkey has increased by 22.6% in the last 5 years, and the characteristics of such patients with asthma remain uninvestigated. Therefore, we aimed to evaluate the characteristics of older adults with asthma according to sex and asthma control status to provide an in-depth overview of asthma in this population in Turkey. METHODS: The data of older adults (age 65 years and over) with asthma were obtained from a multicenter, cross-sectional asthma database registry (Turkish Adult Asthma Registry, TAAR) funded by the Turkish Thoracic Society. Comparisons were made based on sex and asthma control levels using the Global Initiative for Asthma (GINA) Asthma Symptom Control Questionnaire. RESULTS: Of the 2053 (11.5%) patients registered with the TAAR, 227 were older adults (median age, 69 (8), women, 75.8% (n = 172)). Of these, 46.5% (n = 101) had obesity to some degree. Compared with men, women had lower education, income levels, and employment rates. Additionally, women exhibited a higher prevalence of obesity, hypertension, and thyroid gland disease than men. Being female (OR: 2.99; 95% CI: 1.307-6.880), the presence of gastroesophageal reflux disease (OR: 2.855; 95% CI: 1.330-6.130), and a predicted forced expiratory volume in the first-second value lower than 80% (OR: 2.938; 95% CI: 1.451-5.948) were associated with poorly controlled asthma. CONCLUSIONS: Herein, older adults comprised 11.5% of adult patients with asthma. Being female poses a disadvantage in terms of both asthma prevalence and control in the older adult asthmatic population owing to the prevalence of comorbidities and socioeconomic sex-related distinguishing factors.

An Alpha-1 Antitrypsin Deficiency Screening Study in Patients with Chronic Obstructive Pulmonary Disease, Bronchiectasis, or Asthma in Turkey.

Purpose: Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition characterized by decreased serum alpha-1 antitrypsin (AAT) levels. We aim to identify AATD in patients with chronic obstructive pulmonary disease (COPD), bronchiectasis, or asthma and to report the frequency of AAT variants in Turkey. Patients and Methods: This non-interventional, multicenter, prospective study was conducted between October 2021 and June 2022. Adult patients with COPD, bronchiectasis, asthma, liver symptoms, or family members with AATD were included. Demographic and clinical characteristics, pulmonary diagnosis, respiratory symptoms, and AAT serum levels were assessed. Whole blood samples were collected as dried blood spots, and the most common AATD mutations were simultaneously tested by allele-specific genotyping. Results: A total of 1088 patients, mainly diagnosed with COPD (92.7%) and shortness of breath (78.7%), were assessed. Fifty-one (5%) were found to have AATD mutations. Fifteen (29.4%) patients had Pi*S or Pi*Z mutations, whereas 36 (70.6%) patients carried rare alleles Pi*M malton (n=18, 35.3% of mutations), Pi*I (n=8, 16%), Pi*P lowell (n=7, 14%), Pi*M heerlen (n=2, 4%), and Pi*S iiyama (n=1, 2%). The most common heterozygous combinations were Pi*M/Z (n=12, 24%), and Pi*M/M malton (n=11, 22%). Ten patients with severe AATD due to two deficiency alleles were identified, two with the Pi*Z/Z genotype, four with the genotype Pi*M malton/M malton, three with Pi*Z/M malton, and one with Pi*Z/M heerlen. Conclusion: Our results identified AATD mutations as a genetic-based contributor to lung disease in patients with COPD or bronchiectasis and assessed their frequency in a population of Turkish patients.

Mediastinitis and subcutaneous abscess complicated after EBUS-TBNA of 2R mediastinal lymph node.

Endobronchial ultrasound-guided transbronchial needle aspiration (EBUSTBNA) is a minimally invasive diagnostic tool used for the evaluation of mediastinal lymphadenopathy. It is a safe procedure, but complications such as bleeding and infection may occur. We report a case of a patient who developed a subcutaneous abscess abscess and mediastinitis after EBUSTBNA. A 75-year-old male with a history of right nephrectomy due to renal cell carcinoma and lung adenocarcinoma history underwent EBUS-TBNA for the evaluation of a right upper paratracheal lymph node. Two weeks after the procedure, the patient presented to the emergency department with skin induration and erythema on the right clavicular area. A non-contrast neck and thorax CT scan was performed, which revealed an extensive subcutaneous abscess on the right clavicular area, extending to the supraclavicular region. The patient was hospitalized, and empirical intravenous antibiotics were initiated due to deep neck infection. Repeated drainage of the subcutaneous abscess was performed. Bacteriologic examination revealed Streptococcus mitis. The patient showed improvement with antibiotic treatment, and a follow-up ultrasound showed a decrease in the size of the abscess and was discharged approximately four weeks after hospitalization. Although very rare, serious infectious complications may develop after EBUSTBNA, and our case report is an important example regarding its management process.

Impact of triple therapy on mortality in COPD.

Only a few therapies have been shown to prolong survival in specific patients with COPD. In recent years, the IMPACT and the ETHOS trials suggested that triple therapy (a combination of inhaled corticosteroid (ICS), long-acting muscarinic antagonist (LAMA) and long-acting ß2-agonist (LABA) given in a single inhaler) may reduce mortality compared with dual bronchodilation. These results need however to be interpreted with caution. These trials were not powered by design to evaluate the impact of triple therapy on mortality as mortality was a secondary outcome. In addition, mortality reduction has to be put in perspective with the low mortality rate in both studies (<2%). Furthermore, a key methodological issue is that up to 70-80% of patients had ICS withdrawal at the enrolment in the LABA/LAMA arms, but none in the ICS-containing treatment arms. It is possible that ICS withdrawal may have contributed to some early death events. Finally, the inclusion and exclusion criteria of both trials were designed to select patients likely to respond to ICS. There are no conclusive data yet that triple therapy reduces mortality in COPD. Future, well-designed and -powered trials are needed to validate the findings on mortality.

Relationship between aeroallergen sensitization pattern and clinical features in adult asthmatics.

Background: Asthma can be classified into atopic and non-atopic phenotypes. However, limited data are available on the clinical implications of these two phenotypes in real life. Objective: This study aimed to examine the clinical features as well as control level and disease severity of asthmatic patients with their aeroallergen sensitivity profiles. Methods: Between 2013 and 2020, adult asthmatic patients who had been followed up regularly at our tertiary healthcare institution for at least one year were included in the study. We collected data retrospectively using manually filled patient files. Results: The mean age of 382 asthmatic patients was 46.6 ± 30.0; 77.5% were women and 75.6% had at least one aeroallergen sensitivity. Polysensitized asthmatics had better asthma symptom control and milder asthma severity than monosensitized asthmatics. Asthma symptom control status was well controlled in 67.5% of the patients, and according to asthma severity, 51.3% of the patients were classified as having moderate asthma. There was a negative relation between age (OR:0.95, CI:0.92-0.98) and atopy presence. The presence of atopy was higher in moderate asthmatics than in mild asthmatics (OR:2.02, CI:1.01-4.09). Finally, there was a positive relationship between the percent predicted forced expiratory volume in first second (FEV1%) (OR:1.02, CI:1.009-1.048) and the presence of atopy. The presence of rhinitis (OR:0.44, CI:0.22-0.88) and per 1 unit increase of Tiffeneau index (FEV1/forced vital capacity) (OR:0.94, CI:0.90-0.99) had a negative association, whereas number of medication use for asthma symptoms (OR:1.68, CI:1.18-2.39) and presence of cardiovasculary disease (OR:2.64, CI:1.19-5.84) had a positive association with not well-controlled asthma symptom level. Conclusion: Aeroallergen sensitivity was associated with asthma severity. However, this was not the case with asthma control levels in this adult asthma cohort. Among the atopic asthmatics polysensitized asthmatics had better asthma symptom control level and milder asthma severity level.

Picturing asthma in Turkey: results from the Turkish adult asthma registry.

INTRODUCTION: National data on asthma characteristics and the factors associated with uncontrolled asthma seem to be necessary for every country. For this purpose, we developed the Turkish Adult Asthma Registry for patients with asthma aiming to take a snapshot of our patients, thereby assigning the unmet needs and niche areas of intervention. METHODS: Case entries were performed between March 2018 and March 2022. A web-based application was used to record data. Study outcomes were demographic features, disease characteristics, asthma control levels, and phenotypes. RESULTS: The registry included 2053 patients from 36 study centers in Turkey. Female subjects dominated the group (n = 1535, 74.8%). The majority of the patients had allergic (n = 1158, 65.3%) and eosinophilic (n = 1174, 57.2%) asthma. Six hundred nineteen (32.2%) of the patients had obese asthma. Severe asthma existed in 670 (32.6%) patients. Majority of cases were on step 3-5 treatment (n: 1525; 88.1%). Uncontrolled asthma was associated with low educational level, severe asthma attacks in the last year, low FEV1, existence of chronic rhinosinusitis and living in particular regions. CONCLUSION: The picture of this registry showed a dominancy of middle-aged obese women with moderate-to-severe asthma. We also determined particular strategic targets such as low educational level, severe asthma attacks, low FEV1, and chronic rhinosinusitis to decrease uncontrolled asthma in our country. Moreover, some regional strategies may also be needed as uncontrolled asthma is higher in certain regions. We believe that these data will guide authorities to reestablish national asthma programs to improve asthma service delivery.

Perceived Need for Mental Health Services Among Healthcare Workers During the Coronavirus Disease-19 Pandemic in Turkey: A Multicenter Cross-sectional Study

Background: The coronavirus disease-2019 pandemic has contributed to work-related psychosocial risks in healthcare workers. Aims: To evaluate the perceived need for mental health services and related factors in Turkish healthcare workers practicing in pandemic hospitals. Study Design: Cross-sectional study. Methods: Data were collected from face-to-face interviews with healthcare workers at 19 pandemic hospitals in 13 provinces between September and November 2021. The study survey included the evaluation of the perceived need for and utilization of mental health services in the previous year, as well as sociodemographic, health-related, and work-related characteristics, the General Health Questionnaire-12, the World Health Organization Quality of Life-BREF (WHOQoL-BREF) questionnaire, and the Fear of coronavirus disease-2019 scale (FCV-19S). Results: Of 1,556 participants, 522 (33.5%) reported a perceived need for mental health services, but only 133 (8.5%) reported receiving these services. Multiple logistic regression analysis of the perceived need for mental health services revealed significant relationships with lower age, female sex, being a current smoker, having a chronic disease, having a mental disorder, coronavirus disease-2019 contact within the last three months in settings other than the home or workplace, a positive coronavirus disease-2019 vaccination history, being a physician, being a non-physician healthcare professional, and coronavirus disease-2019 contact within the last three months at work. After adjustment for these characteristics, higher General Health Questionnaire-12 and FCV-19S scores and lower WHOQoL-BREF domain scores were related to the perceived need for mental health services in logistic regression analyses. Conclusion: The findings indicate a substantial need for mental health services amongst Turkish healthcare workers during the pandemic and outline participants' characteristics regarding high-priority groups for the intervention. Future research may focus on developing actions and evaluating their efficiency.

Caregiver Burden in Pulmonary Patients.

Caregiving has become an increasingly important medical and social issue in recent decades. We performed a cross-sectional study on pulmonary patients and accompanying informal caregivers who were hospitalized in the chest disease ward of a tertiary center in Turkey between January 2020 and April 2021. Informal caregivers were asked to complete the Zarit Caregiver Burden Interview. A total of 141 inpatients (39% female, mean age: 76.8 ± 10.2 years) and their informal caregivers (77% female, mean age: 54 ± 11.9 years) were evaluated. The caregivers were classified as light to medium burden (group 1, burden score ≤40) and medium to heavy burden (group 2, burden score >40). The mean burden score was 35.7 ± 13.3 points. The number of female caregivers was higher in group 2 (p = 0.025). There was a positive correlation between the burden score and female gender (p = 0.002) and the number of chronic diseases of caregivers (p = 0.020). Statistical analysis revealed a negative correlation between the burden score and the level of education (r = > -0.174, p = 0.040). Caregiver burden is related to the characteristics of the caregiver rather than those of the patient being cared for. Female caregivers with lower education and more than one chronic disease perceive a higher caregiver burden.

Turkish Thoracic Society's Statement Report on Electronic Cigarettes and Heated Tobacco Products.

Tobacco addiction, which causes the death of more than 8.5 million people in the world every year, is a preventable global public health problem. There are 1.1 billion adult smokers worldwide and 60% of them desire or intend to quit but unfortunately, the tobacco industry continues to profit at the expense of people's lives by marketing electronic cigarettes and heated tobacco products as a smoking cessation method and they continue to poison young people with new threat tobacco products, promising a "smoke-free future" Turkish Thoracic Society is actively involved in the implementation of the National Tobacco Control Program to protect public health and has warned and raised awareness of new threats to the youth, such as electronic cigarettes and heated tobacco products. The purpose of this report is to provide information about electronic cigarettes and heated tobacco products and to present TTJ's position on the subject.

Turkish Thoracic Society Early Career Members Task Force Group's Virtual Congress Notes: European Respiratory Society International Congress 2020.

In this article, Early Career Task Force Group members of the Turkish Thoracic Society summarize the European Respiratory Society 2020 virtual congress. Current developments in the field of respiratory diseases were compiled with the addition of sessions specific to coronavirus disease 2019 this year. Almost all of the congress sessions were examined, and the important and striking results of the congress were highlighted. Congress sessions were attended by expert researchers, and the prominent messages of each session were highlighted in short summaries. They were then grouped under relevant titles and ranked in order of meaning and relation. It was finalized by a team of researchers.

ERS International Virtual Congress 2021: Highlights from the Turkish Thoracic Society Early Career Members.

This review aimed to highlight some important points derived from the presentations of the European Respiratory Society 2021 Virtual International Congress by a committee formed by the Early Career Task Group of the Turkish Thoracic Society. We summarized a wide range of topics including current developments of respiratory diseases and provided an overview of important and striking topics of the congress. Our primary motivation was to give some up-to-date information and new developments discussed during congress especially for the pulmonologists who did not have a chance to follow the congress. This review also committed an opportunity to get an overview of the newest data in the diverse fields of respiratory medicine such as post-coronavirus disease 2019, some new interventional and technologic developments related to respiratory health, and new treatment strategies.

Role of tobacco exposure in the course of COVID-19 disease and the impact of the disease on smoking behavior.

BACKGROUND: The effect of COVID-19 on smoking behavior is not fully known. Studies evaluating the link between smoking and COVID-19 have controversial results. This study aims to evaluate patients' smoking status with COVID-19 and the effect of COVID-19 on smoking behavior. METHODS: Data were collected from 150 COVID-19 patients with a positive polymerase chain reaction test for SARS-CoV-2 between 11 March 2020 and 15 May 2020 in Rize, Turkey. Patients were interviewed by phone calls 2 months after their recovery. After 9 months, a follow-up was performed for those who quit smoking. RESULTS: Of the participants, 19 (12.7%) were current smokers before the COVID-19 diagnosis, and 15 (78.9%) of them stated that they quit smoking after their diagnosis. After nine months of follow-up, 11 of those 15 participants (57.8%) sustained abstinence. CONCLUSION: Smoking cessation rates are high in people with COVID-19. Besides, the frequency of sustaining abstinence in the long term was also high in these individuals. The COVID-19 pandemic should be viewed as an open opportunity to strengthen and prioritize smoking cessation activities.

Rate of History of Tuberculosis Among Healthcare Workers in Turkey: A Cross-Sectional Study.

OBJECTIVES: Healthcare workers (HCWs) possess a high risk for both latent tuberculosis infection (LTBI) and active disease. This study aimed to investigate tuberculosis (TB) disease history in hospital staff working in healthcare institutions in the Eastern Black Sea Region of Turkey. MATERIAL AND METHODS: This study included 460 HCWs employed in 5 hospitals in the Eastern Black Sea Region of Turkey. Between May 01 and July 31, 2016, the participants were asked to answer a questionnaire, including data about TB history. The data about family TB history, Bacilli Calmette-Guerin (BCG) vaccination, or tuberculin skin test (TST) application before starting work were also evaluated. RESULTS: Of the 460 participants, 69.3% were women (n=319) and 30.7% (n=141) were men. The mean age was 32 (17-63) years. A total of 8 participants (1.7 %) had TB history. There was no statistically significant relationship between TB history and age, sex, body mass index (BMI), smoking habits, or presence of comorbidities (p>0.05 for all variables); family history of TB (p<0.001) and TST positivity (p<0.001) were significantly higher in participants with a TB history. Each participant was checked for the presence of both BCG scar and TST positivity. No difference was noted between positive TB history and negative HCWs (p>0.05). The duration of work (years) was higher in participants with a TB history. The p value was very close but did not reach the limits of significance (p=0.059). CONCLUSION: In this study, the rate of TB among HCWs was 1.7% (8 of 460 HCWs). Family history of TB and TST positivity are strong predictors of TB in HCWs.

ERS International Congress 2020: highlights from the Epidemiology and Environment Assembly.

In this article, early career members of the Epidemiology and Environment Assembly of the European Respiratory Society (ERS) summarise a selection of five sessions from the ERS 2020 Virtual International Congress. The topics covered include risk factors for chronic respiratory diseases over the life course, from early life origins to occupational exposures in adulthood, and the interplay between these risk factors, including gene-environment interactions. Novel results were also presented on smoking prevention and potential risks of vaping. Finally, the challenges and opportunities for epidemiological and environmental research brought by the coronavirus disease 2019 (COVID-19) pandemic were a major topic of this year's congress.

Weight Loss as the First-Line Therapy in Patients with Severe Obesity and Obstructive Sleep Apnea Syndrome: the Role of Laparoscopic Sleeve Gastrectomy.

PURPOSE: The objective of this study is to investigate the effects of laparoscopic sleeve gastrectomy (LSG) on the polysomnographic parameters related to OSAS. MATERIALS AND METHODS: We conducted this 3-year prospective cohort study in a tertiary care center between December 2016 and December 2019. In total, we enrolled 31 patients with severe obesity who underwent full-night polysomnography (PSG) before LSG. Later, the patients were re-evaluated by full-night PSG 12 months after the surgery. RESULTS: The mean age of the patients was 44.1 ± 9.6 years. The mean body mass index (BMI) decreased significantly from a mean value of 49.8 ± 8.5 kg/m2 at baseline to 33.2 ± 8.2 kg/m2 and a percent BMI (%BMI) reduction of 33.8 ± 10.4% and a percent total weight loss (%TWL) of 35.4 ± 10.8% was achieved on the same day of the postsurgical PSG (p < 0.001). There was a remarkable improvement in the AHI (baseline: 36.1 ± 27.1, 12 months after the surgery: 10.3 ± 11.8; difference: 25.8 ± 22.8 events per hour) (p < 0.001). Importantly, there was a decrease in the percentage of non-rapid eye movement (NREM) 2 (p < 0.001), whereas NREM 3 and REM stages witnessed a significant increase (p = 0.001 and p < 0.001, respectively) after the surgery. CONCLUSION: The results of this study showed that weight loss after LSG yields improvement not only in AHI but also in many polysomnographic parameters such as sleep quality and desaturation indices.

Management of Patients with Connective Tissue Disease-associated Interstitial Lung Diseases During the COVID-19 Pandemic.

The novel coronavirus disease (COVID-19) is similar to connective tissue disease-associated interstitial lung diseases (CTD-ILD) in many aspects. However, patients with CTD-ILD have required particular attention during the pandemic since they are at high risk due to -immunosuppressive treatments. Thus, prompt decisions for diagnosis and treatment initiation have become more important than earlier for these patients during the pandemic. Radiological perspectives have become inevitable for the differential diagnosis of this group ¬during the pandemic, particularly to obtain rapid and accurate results that allow the physicians to start treatment immediately. However, in addition to radiological images, a definitive diagnosis also requires access to extensive information regarding patient history, including characteristics of comorbidities, and clinical and serological findings. Consequently, the differential diagnosis of COVID-19 and CTD-ILD can yield accurate treatment regimens that differ greatly between the 2 diseases, and also prevent the spread of the outbreak with COVID-19 patients treated under isolation.

Highlights of the ERS Lung Science Conference and Sleep and Breathing Conference 2021 and the new ECMC members.

This article provides a brief description of some of the most remarkable sessions of the @EuroRespSoc Lung Science Conference and the Sleep and Breathing Conference 2021 and presents the new incoming members of the ECMC (@EarlyCareerERS) https://bit.ly/2RSDP40.