Arch Med Sci
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Otosclerosis (OTSC) is one of the most common causes of progressive adult-onset hearing loss in the Caucasian population, with a female preponderance. The etiology of OTSC is complex and there are a number of genetic variants reported to be associated with OTSC susceptibility, but no data on the genetic background of OTSC in patients originating from the central-eastern part of Europe have been available. The purpose of our study was to investigate in Polish patients the frequency of genetic variants previously reported to be most strongly associated with OTSC. ⋯ Despite multiple confirmatory studies on TGFB1 and RELN association with OTSC development in some populations, no significant association between the studied variants and OTSC was found in Polish patients. Our results indicate the presence of inter-population differences in OTSC susceptibility factors and confirm the large genetic heterogeneity of this disorder.
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Absence of mismatch repair (MMR) genes in tumor cells or errors in the replication repair process may lead to DNA-MMR deficiency and microsatellite instability (MSI) formation. Specific tumor environments where gene variations are observed are believed to be conducive to the formation of MSI. This study aimed to determine the MSI status, MMR protein expression, and somatic mutation profile in solid organ tumors. ⋯ Our study covers not only colorectal cancer patients but also other solid tumor types, providing the first data from the Turkish population on the MSI-H/dMMR status and somatic mutation profile in the presence of this condition.
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Smoking increases the risk of various cardiovascular diseases, including ischemic heart disease (IHD). This study aimed to assess the impact of age, period, and cohort on long-term trends in IHD mortality in China, India, Indonesia, the United States, and Russia, the five countries with the highest number of smokers, from 1990 to 2019. ⋯ From 1990 to 2019, mortality from IHD caused by smoking showed a downward trend in these five countries. However, the pattern of increased mortality from IHD in women caused by smoking warrants further study.
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Transfusion of red blood cells (RBCs) is not devoid of risks; nor is anemia. The aim of the study was to assess the usefulness of a program designed to improve the appropriateness of RBC transfusions in hospital patients.Methods: We retrospectively analyzed time periods before and after program implementation. ⋯ A simple program may lead to a 3-fold decrease in transfusion rate and a significant increase in the percentage of appropriate RBC transfusions.
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Acute pancreatitis (AP) is a prevalent inflammatory disease that can lead to severe abdominal pain and multiple organ failure, potentially resulting in pancreatic necrosis and persistent dysfunction. A nomogram prediction model was developed to accurately evaluate the prognosis and provide therapy guidance to AP patients. ⋯ Our novel nomogram is a simple tool for accurately predicting IHM in ICU patients with AP. Treatment methods that enhance the factors involved in the model may contribute to increased in-hospital survival for these ICU patients.