Deciphering the host genetic factors conferring susceptibility to severe COVID-19 using exome sequencing.

The COVID-19 pandemic remains a significant public health concern despite the new vaccines and therapeutics. The clinical course of acute SARS-CoV-2 infection is highly variable and influenced by several factors related to the virus and the host. Numerous genetic studies, including candidate gene, exome, and genome sequencing studies, genome-wide association studies, and other omics efforts, have proposed various Mendelian and non-Mendelian associations with COVID-19 course. In this study, we conducted whole-exome sequencing on 90 unvaccinated patients from Turkey with no known comorbidities associated with severe COVID-19. Of these patients, 30 had severe, 30 had moderate, and 30 had mild/asymptomatic disease. We identified rare variants in genes associated with SARS-CoV-2 susceptibility and pathogenesis, with an emphasis on genes related to the regulation of inflammation, and discussed these in the context of the clinical course of the patients. In addition, we compared the frequencies of common variants between each group. Even though no variant remained statistically significant after correction for multiple testing, we observed that certain previously associated genes and variants showed significant associations before correction. Our study contributes to the existing literature regarding the genetic susceptibility to SARS-CoV-2. Future studies would be beneficial characterizing the host genetic properties in different populations.

The effect of CPAP therapy on insulin-like growth factor and cognitive functions in obstructive sleep apnea patients.

OBJECTIVES: Cognitive impairment is common among patients with obstructive sleep apnea syndrome (OSAS). In this study, we aimed to investigate the effect of continuous positive airway pressure (CPAP) therapy on serum insulin-like growth factor-1 (IGF-1) levels and cognitive functions in patients with OSAS. PATIENT/METHODS: Thirty-three patients with newly diagnosed OSAS and 17 healthy-control subjects enrolled in the study. All individuals completed the mini-mental state examination (MMSE) to evaluate cognitive function. Blood samples were taken at the end of the polysomnography in the morning and the same procedures were repeated 3 months after starting CPAP treatment. RESULTS: In the OSAS group, the baseline MMSE score was 23.5 ± 3.6, and serum IGF-1 level was 79.1 ± 36.1 ng/mL. Both values were significantly lower compared with the control group (mean MMSE score = 28.1 ± 1.4, P = 0.0001; mean serum IGF-1 level = 147.1 ± 49.1 ng/mL, P < 0.0001). Three months after CPAP treatment, OSAS patients showed a significant improvement in MMSE scores (26.5 ± 2.8, P = 0.0001) and serum IGF-1 level (129.1 ± 58.2, P = 0.0001). In contrast, baseline and third-month measurements for IGF-1 levels and MMSE scores were not significantly different in the control group. CONCLUSIONS: The results indicate that effective CPAP therapy in OSAS patients leads to significant improvement in cognitive functions and IGF-1 even in a short-term follow-up. Cognitive function assessment might be a part of evaluation in OSAS patients.

Non-asbestos-related malignant pleural mesothelioma.

Malignant pleural mesothelioma (MPM) is an uncommon tumor derived from mesothelial lining cells. MPM has been described as an insidious neoplasm because of its long latency period. The tumor is typically found in patients several decades after asbestos exposure. We herein describe a 26-year-old patient with MPM who presented with pleural effusion. The patient had not been exposed to asbestos or erionite. There are few case reports of non-asbestos-related MPM in young patients. We report this case to remind physicians to consider MPM in the differential diagnosis of pleural effusion in young patients without exposure to asbestos or erionitis.

A Rare Cause of Diffuse Parenchymal Lung Disease together with Granulomatous Reaction: Pulmonary Amyloidosis.

Amyloidosis is a heterogeneous group of disorder associated with the deposition of protein in an abnormal fibrillar form. Primary Sjögren's syndrome (PSS) is a systemic inflammatory disorder that commonly affects the exocrine glands. The reported frequency of pulmonary involvement in PSS varies widely, ranging from 9% to 75%. Pulmonary involvement occurs in light-chain (AL) amyloidosis and is uncommon in the reactive (AA) and hereditary forms. Herein we present a case of PSS associated diffuse multinodular amyloidosis in the lung. We followed up the patient without treatment for three years. There are only minimal lung symptoms related to lung infiltration. In conclusion, pulmonary involvement in SS is an extremely rare clinical manifestation and usually has a good survival rate without treatment.