Journal of investigative medicine : the official publication of the American Federation for Clinical Research
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We investigated the association between variants rs12997 in activin A receptor type I (ACVR1) and rs1043784 in BMP6 located in the 3' untranslated region, and primary open-angle glaucoma (POAG). The retrospective case-control study used TaqMan real-time PCR assay to genotype 400 subjects, including 150 patients with POAG and 250 controls. The minor 'G' allele of rs12997 in ACVR1 showed significant association with POAG (p=0.027, OR=1.39, 95% CI=1.03 to 1.87). ⋯ However, clinical variables such as intraocular pressure and cup/disc ratio showed no association with both the polymorphisms. To conclude, the study shows a modest association between rs12997 in the ACVR1 gene, a member of the bone morphogenic protein signaling pathway and POAG. However, the results need further replication in large population-based cohorts and different ethnicities to validate its role as an important genetic biomarker.
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Acute suppurative parotitis (ASP) is an acute infection of the parotid gland that necessitates hospitalization in some patients. The aim of this study was to evaluate clinical laboratory values including hydration, nutritional status, inflammatory markers and age, and to compare them with duration of hospitalization of patients with ASP. This is a retrospective chart review in a tertiary academic center. ⋯ Examination of these factors on multivariate analysis found hospitalization duration was exclusively affected by patients' level of dehydration as represented by BUN:Cr. Patient age, WCC levels at presentation, and platelet levels were not found to be statistically significant. Treatment and interventions should be planned accordingly.
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The ability of translated cellular proteins to perform their functions requires their proper folding after synthesis. The endoplasmic reticulum (ER) is responsible for coordinating protein folding and maturation. Infections, genetic mutations, environmental factors and many other conditions can lead to challenges to the ER known as ER stress. ⋯ Prolonged ER stress or a dysregulated UPR can lead to premature apoptosis and an exaggerated inflammatory response. Following these discoveries, ER stress was shown to be related to several chronic diseases, such as diabetes mellitus, neurodegenerative disorders, fatty liver disease and inflammatory bowel disease that have not yet been clearly demonstrated pathophysiologically. Here, we review the field and present up-to-date information on the relationship between biological processing, ER stress, UPR, and several chronic diseases.
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Infective endocarditis (IE) complicated by heart block can have adverse outcomes and usually requires immediate surgical and cardiac interventions. Data on outcomes and trends in patients with IE with concurrent heart block are lacking. Patients with a primary diagnosis of IE with or without heart block were identified by querying the Healthcare Cost and Utilization Project database, specifically the National Inpatient Sample for the years 2013 and 2014, based on International Classification of Diseases Clinical Modification Ninth Revision codes. ⋯ Conclusion was made that IE with concurrent heart block worsens in-hospital mortality, length of stay, and cost for patients. Our analysis demonstrates an increase in cardiac procedures, specifically aortic and/or mitral valve replacements, and Implantable Cardiovascular Defibrillator/Cardiac Resynchronization Therapy/ Permanent Pacemaker (ICD/CRT/PPM) placement in IE with concurrent heart block. A close telemonitoring system and prompt interventions may represent a significant mitigation strategy to avoid the adverse outcomes observed in this study.