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.

Mid-term outcomes of a smoking cessation program in hospitalized patients in Türkiye.

INTRODUCTION: 'Teachable moments', such as inpatient treatment periods, can be turned into opportunities for smokers to acquire healthy living behaviors. This study was conducted to evaluate the outcomes of smoking cessation interventions in an inpatient hospital setting. METHODS: Data were collected for this single-arm prospective intervention cohort study between October 2021 and March 2022 from hospitalized patients at Recep Tayyip Erdogan University Training and Research Hospital in Türkiye. Smoker patients received smoking cessation counseling and brief smoking cessation interventions during their hospitalization and were informed about how to apply to our hospital's smoking cessation outpatient clinic after discharge. They were followed via phone on the 3rd, 5th, and 7th day and the 1st, 3rd, 6th, and 12th month after their discharge, regarding their quit status as well as admissions to smoking cessation clinics. Quitters were confirmed by exhaled air carbon monoxide testing. Logistic regression analysis was performed to evaluate the presence of admission to the emergency department and family physicians at follow-up at 1st year. The model was adjusted in terms of age, sex, presence of malignancy, and education level. RESULTS: Of the 183 patients included in the study, 163 participants completed periodic follow-up during one year, with quit rate of 47.2%. The rate of anxiety was higher among non-quitters compared to quitters (9.4% vs 1.2%) (p=0.024). Non-quitters were 19 times more likely to have emergency department admissions (AOR=19.64; 95% CI: 8.08-47.68) and eight times more likely to have family doctor visits (AOR=8.43; 95% CI: 4.05-17.53) than quitters. CONCLUSIONS: This cessation program evaluated the quit rates of hospitalized patients in the first year and revealed that the rate of anxiety was higher in non-quitters compared to quitters. It would be an important approach to include psychiatric support in this practice.

EXPRESS: LONG COVID: A RISK FACTOR FOR ANXIETY, DEPRESSION, AND SUICIDALITY?

In many Covid 19 survivors, symptoms continue for a long time. The aim of this study is to examine the relationship between long-term effects of COVID-19, levels of anxiety and depression, and suicidal ideation with sociodemographic factors and symptoms. A cross-sectional study conducted on patients who came for control at least 3 months after having COVID-19 disease, in the stable period and still have symptoms after COVID-19. Demographic characteristics, symptoms, The Beck Depression Scale (BDS), The Beck Anxiety Scale (BAS) and suicidal ideation were assessed with a face-to-face questionnaires. A total of 490 patients participated to the study. 30% of patients scored positive on the BDS and 46% scored high on the BAS. Female sex was found as a risk factor. Anxiety and depression were found to be significantly associated with long COVID symptoms. Both BAS and BDS scores were significantly higher in people with suicidality compared to others, and long-term symptoms were found to be statistically associated with this situation. Depression and anxiety are common in cases of long COVID. It is important for healthcare professionals to be aware of these potential mental health consequences especially suicidality and, to provide appropriate support and interventions for individuals with long COVID.

Evaluation of Choroidal Thickness and Retinal Vessel Density with Serum HIF-1α and TNF-α Level in Patients with OSAS.

PURPOSE: To reveal changes in choroidal thickness, retinal vessel density, and serum HIF-1α and TNF-α levels in obstructive sleep apnea syndrome (OSAS) and their correlation. METHODS: This prospective case-control study included 118 patients divided into mild-to-moderate OSAS (n = 40), severe OSAS (n = 39), and a control group (n = 39). Choroidal thickness was evaluated with OCT, vessel density with OCTA, AHI index with polysomnography, and serum HIF-1α and TNF-α levels were analyzed using the enzyme-linked immunosorbent assay. RESULTS: The serum HIF-1α values of the participants in the mild-moderate OSAS and severe OSAS groups were [893.25(406.7-2068) and 1027(453-2527), respectively], and were both significantly higher than the control group [(521.5(231.6-2741))] (p < 0.001). Serum TNF-α levels did not differ significantly between the groups (p = 0.051).). Subfoveal choroidal thickness (SFCT) values of the severe OSAS groups were significantly lower than the control group (p < 0.05). The superficial and deep capillary plexus vascular density (SVD and DVD) values of the severe OSAS group were lower than the control group (p < 0.05). Serum HIF-1α and TNF-α levels of all participants were negatively correlated with both their SVD values (p < 0.05, r: -0.220 and p < 0.05, r: -0.252, respectively) and their DVD values (p < 0.001, r: -0.324 and p = 0.001, r: -0.299, respectively). CONCLUSIONS: Increased serum levels of inflammatory mediators (HIF-1α ve TNF-α) in OSAS cause a decrease in SFCT, SVD, and DVD, which is an indication of systemic vascular damage. Further research on developing treatment strategies to modulate TNF-α ve HIF-1α may help recede vascular morbidity in OSAS patients.

Computed tomography attenuation in differential diagnosis of transudative and exudative pleural effusions.

OBJECTIVE: Pleural effusion is a common medical problem. It is important to decide whether the pleural fluid is a transudate or an exudate. This study aims to measure the attenuation values of pleural effusions on thorax computed tomography and to investigate the efficacy of this measurement in the diagnostic separation of transudates and exudates. MATERIALS AND METHODS: 380 cases who underwent thoracentesis and thorax computed tomography with pleural effusion were classified as exudates or transudates based on Light's criteria. Attenuation measurements in Hounsfield units were performed through the examination of thorax computed tomography images. RESULTS: 380 patients were enrolled (39 % women), the mean age was 69.9 ± 15.2 years. 125 (33 %) were transudates whereas 255 (67 %) were exudates. The attenuation values of exudates were significantly higher than transudates (15.1 ± 5.1 and 5.0 ± 3.4) (p < 0.001). When the attenuation cut-off was set at ≥ 10 HU, exudates were differentiated from transudates at high efficiency (sensitivity is 89.7 %, specificity is 94.4 %, PPV is 97 %, NPV is 81.9 %). When the cut-off value was accepted as < 6 HU, transudates were differentiated from exudates with 97.2 % specificity. CONCLUSION: The attenuation measurements of pleural fluids can be considered as an efficacious way of differentiating exudative and transudative pleural effusions.