12 research outputs found

    The Genetic History of the Karachay

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    The relationship between glycemic control and BNP levels in diabetic patients

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    Background: Glycemic control affects cardiovascular risk factors positively. The purpose of this study was to assess B-type natriuretic peptide (BNP) levels in patients with poorly controlled diabetes before and after glycemic regulation was achieved.Methods: The study was performed in a prospective design. The study population consisted of 79 consecutive diabetic patients with poor glycemic control. All subjects underwent transthoracic echocardiography. Levels of fasting plasma glucose, glycosylated hemoglobin (HbA1c), lipid parameters, and BNP were measured before the onset of the treatment and after glycemic regulation was achieved.Results: A significant decrease in BNP (95.0 [4.0–1807] ng/L vs. 52.0 [2.1–987.0] ng/L, p < 0.001) levels were observed, after improving glycemic control. The decrease in BNP levels was positively correlated with the decrease in HbA1c (r = 0.345, p = 0.003) and fasting plasma glucose (r = 0.366, p = 0.002). There was no correlation between the decrease in BNP levels and lipid parameters (p = NS).Conclusions: We conclude that poor glycemic control may cause high levels of BNP which maylead to overdiagnosis of congestive heart failure. We suggest that HbA1c and fasting plasma glucose should be checked in patients with high levels of BNP

    Diagnostic Accuracy of SARS-CoV-2 Rapid Antigen Testing in a Pediatric Population: Children are Not Little Adults

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    BACKGROUND: Information on the use of antigen-based SARS-CoV-2 rapid antigen tests (RAT) in children is limited. RATs have been used more frequently, because they are easily applicable, inexpensive, and can be easily performed at home without the need for special equipment. This study was designed to assign the diagnostic test accuracy of the SARS-CoV-2 RAT in daily clinical practice in children. METHODS: One thousand forty-two pediatric patients (aged 1 month - 18 years) who presented to the pediatric COVID-19 outpatient clinic of our hospital between January 2021 and June 2022 and met the inclusion criteria were included in this study. Nasopharyngeal samples were taken from the patients at the same visit, first for reverse transcription polymerase chain reaction (RT-PCR) and then for RAT. RESULTS: The data of all patients with RT-PCR positivity (n = 314) and additionally 14 patients with RAT positivity were analyzed in depth. The overall sensitivity and specificity were 62.1% (95% CI: 56.4 - 67.4) and 98% (95% CI: 96.7 - 98.9), respectively. The positive predictive value (PPV) and the negative predictive value (NPV) in this pediatric study were 93.3% and 85.7% (95% CI: 88.7 - 96.1 and 83.1 - 87.9), respectively. Considering the Ct values, which are indirect indicators of viral load, it was observed that the sensitivity of the rapid antigen test increased at low Ct values. The sensitivity increased to 75.1% (95% CI: 67.9 - 81.1) in patients with a Ct value of < 25. The specificity was 92.7% (95% CI: 90.7 - 94.3), PPV was 67.8% (95% CI: 60.7 - 67.8) and the NPV was 94.7% (95% CI: 93.0 - 96.1) in patients with a Ct value < 25. When the patients were evaluated according to their symptomatic/asymptomatic status, the difference between the diagnostic performance of the RAT test was found to be statistically significant (p = 0.006). CONCLUSIONS: In our study, it was found that the sensitivity of RATs in pediatric patients was lower than in adults. Our results also showed that children are not small adults, and the sensitivity of the test was higher, especially in symptomatic patients and patients with high viral load. To obtain more accurate results, we believe that performing the test in the first 3 days of symptoms will give more accurate results

    The distinct genetic pattern of ALS in Turkey and novel mutations

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    The frequency of amyotrophic lateral sclerosis (ALS) mutations has been extensively investigated in several populations; however, a systematic analysis in Turkish cases has not been reported so far. In this study, we screened 477 ALS patients for mutations, including 116 familial ALS patients from 82 families and 361 sporadic ALS (sALS) cases. Patients were genotyped for C9orf72 (18.3%), SOD1 (12.2%), FUS (5%), TARDBP (3.7%), and UBQLN2 (2.4%) gene mutations, which together account for approximately 40% of familial ALS in Turkey. No SOD1 mutations were detected in sALS patients; however, C9orf72 (3.1%) and UBQLN2 (0.6%) explained 3.7% of sALS in the population. Exome sequencing revealed mutations in OPTN, SPG11, DJ1, PLEKHG5, SYNE1, TRPM7, and SQSTM1 genes, many of them novel. The spectrum of mutations reflect both the distinct genetic background and the heterogeneous nature of the Turkish ALS population. (C) 2015 Elsevier Inc. All rights reserved

    The Distinct Genetic Pattern of ALS in Turkey and Novel Mutations

    No full text
    The frequency of amyotrophic lateral sclerosis (ALS) mutations has been extensively investigated in several populations; however, a systematic analysis in Turkish cases has not been reported so far. In this study, we screened 477 ALS patients for mutations, including 116 familial ALS patients from 82 families and 361 sporadic ALS (sALS) cases. Patients were genotyped for C9orf72 (18.3%), SOD1 (12.2%), FUS (5%), TARDBP (3.7%), and UBQLN2 (2.4%) gene mutations, which together account for approximately 40% of familial ALS in Turkey. No SOD1 mutations were detected in sALS patients; however, C9orf72 (3.1%) and UBQLN2 (0.6%) explained 3.7% of sALS in the population. Exome sequencing revealed mutations in OPTN, SPG11, DJ1, PLEKHG5, SYNE1, TRPM7, and SQSTM1 genes, many of them novel. The spectrum of mutations reflect both the distinct genetic background and the heterogeneous nature of the Turkish ALS population. (C) 2015 Elsevier Inc. All rights reserved.Wo
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