13 research outputs found
The aim of this study was to evaluate the association between vitamin D receptor, IL6 polymorphisms and DM. DNA was used to genotype the VDR FokI (rs2228570), TaqI (rs731236) and ApaI (rs7975232) polymorphisms by PCR RFLP and IL6 G-174C (rs1800795) by tetra-primer ARMS PCR. The presence of torque teno viruses DNA was assessed with heminested-PCR. For this study T1DM (n = 107) and T2DM (n = 124) patients and matched clinically healthy subjects (n = 200) were recruited. T1DM patients have a tendency to be more frequent carriers of the C allele and TTV infection than controls (OR = 1.9, p = 0.03). VDR tt genotype and VDR “FAt” haplotype are risk factors for T1DM. VDR “fAt” haplotype may increases the risk for T2DM. These associations were not changed after exclusion from statistical analysis of patients with hypertension, myocardial infarction, stroke or breast cancer.
No full textThe aim of this study was to evaluate the association between vitamin D receptor, IL6 polymorphisms and DM. DNA was used to genotype the VDR FokI (rs2228570), TaqI (rs731236) and ApaI (rs7975232) polymorphisms by PCR RFLP and IL6 G-174C (rs1800795) by tetra-primer ARMS PCR. The presence of torque teno viruses DNA was assessed with heminested-PCR. For this study T1DM (n = 107) and T2DM (n = 124) patients and matched clinically healthy subjects (n = 200) were recruited. T1DM patients have a tendency to be more frequent carriers of the C allele and TTV infection than controls (OR = 1.9, p = 0.03). VDR tt genotype and VDR “FAt” haplotype are risk factors for T1DM. VDR “fAt” haplotype may increases the risk for T2DM. These associations were not changed after exclusion from statistical analysis of patients with hypertension, myocardial infarction, stroke or breast cancer
The insulin polymorphism -23Hph increases the risk for type 1 diabetes mellitus in the Romanian population
No full textThe insulin -23Hph and IGF2 Apa polymorphisms were genotyped in Romanian patients with T1DM (n = 204), T2DM (n = 215) or obesity (n = 200) and normoponderal healthy subjects (n = 750). The genotypes of both polymorphisms were distributed in concordance with Hardy-Weinberg equilibrium in all groups. The -23Hph AA genotype increased the risk for T1DM (OR: 3.22, 95%CI: 2.09-4.98, p < 0,0001), especially in patients without macroalbuminuria (OR: 4.32, 95%CI: 2.54-7.45, p < 0,0001). No other significant association between the alleles or genotypes of insulin -23Hph and IGF2 Apa and diabetes or obesity was identified
The Consistency between Covid-19 RT-PCR and IgM/IgG Quick tests results
No full textThe aim of this retrospective study was to analyze the results of tests for SARSCoV-2 performed during 07.04.2020- 20.06.2020 in the Department of the Emergency from Bucharest University Emergency Hospital.
We detected 173 men and 133 women that were tested with both RT-PCR and serologic tests. The results were concordant for 287 samples (93,8%) that were collected from subjects for whom the diagnosis of COVID-19 was subsequently confirmed (10) or infirmed (277). We found that the most frequent signs and symptoms of patients with COVID-19 were at the respiratory (e.g. dyspnea), neurological (e.g. vertigo, cephalgia) and gastrointestinal (e.g. abdominal pain, vomiting, high volume of the abdomen) systems.
There was no situation with positive RT-PCR and IgG and negative IgM results.
In our study the RT-PCR and quick serological tests were concordant in 93,8% of cases. The combination of RT-PCR and serological testing can enhance the accuracy of COVID-19 diagnosis
Autoimmune diseases and vitamin D receptor Apa-I polymorphism are associated with vitiligo in a small inbred Romanian community
No full textVitiligo has been associated with the host's genetic profile, metabolic abnormality and immunostatus. The purpose of this study was to investigate the association of vitiligo with autoimmune diseases for 31 out of 39 subjects with vitiligo and their first-degree relatives living in a small Caucasian inbred rural community. They were compared with healthy individuals. A 2.28% prevalence of vitiligo was calculated and the presence of consanguine marriages (72.3%) was noted for this community. Our results indicate an increased prevalence of thyroidopathies, diabetes mellitus and rheumatoid arthritis in families with vitiligo. We also show that the Apa-I polymorphism of the vitamin D receptor gene is associated with vitiligo. This is the first study of its kind performed in Romania suggesting that the vitamin D receptor gene might play a role in the aetiopathogenesis of skin depigmentatio
Characteristics of Patients with Persistent COVID-19 Symptoms and Unscheduled Return Visits to a Centre for COVID-19 Evaluation
No full textBackground: This retrospective study aimed to evaluate the characteristics of patients with long COVID syndrome. Methods: This study included 457 adults who had at least one persistent symptom after COVID-19 infection. Results: The median time interval between the last SARS-CoV-2 infection and emergency room presentation was 3 months. Older patients had comorbidities (61.7 vs. 44.9 years, p < 0.0001), moderate or severe forms of COVID-19 (61.2 vs. 50.9 years, p < 0.0001), and respiratory symptoms (56.1 vs. 52.0 years, p = 0.0027). Non-vaccinated patients were older than vaccinated patients (56.0 vs. 51.5 years, p = 0.0008) and had residual lung abnormalities following COVID-19 infection (51.5% vs. 36.8%, p < 0.003). The time interval between the last SARS-CoV-2 infection and the hospital evaluation was shorter for vaccinated patients (3.2 vs. 3.9 months, p < 0.0001) and those with mild forms (3.3 vs. 4.12 months, p = 0.0001) versus non-vaccinated individuals. After the last SARS-CoV-2 infection, 107 patients developed impaired fasting glucose, impaired glucose tolerance, or diabetes mellitus, being patients with already known chronic diseases (p = 0.0002), or hypertension (p = 0.001). Conclusions: Our study pointed out the heterogeneity of symptoms following COVID-19, and they are associated with age, vaccination status, or severity of SARS-CoV-2 infection
Characteristics of samples successfully analyzed in each discovery collection and the meta-analyses.
No full text<p>n = total number of patients; Micro = patients with microalbuminuria; M/F = number of males/females; HbA<sub>1C</sub> blood glycosylated hemoglobin; BMI = body mass index. Case = macroalbuminuria or ESRD, Control = normoalbuminuric, see text for full details.</p
Results from discovery, second stage, and combined meta-analysis for supported markers.
No full text<p>A1 = minor allele = effect allele; A2 = major allele; Freq(A1) = minor allele frequency; OR = odds ratio; 95% CI = 95% confidence interval. Discovery: Meta analysis results for GENIE discovery cohorts. Stage 2: Meta analysis results for replication cohorts. Combined: Meta analysis results for discovery and the stage 2 cohorts. NA = no result, due to genotype failure or quality control filtering.</p
Flow chart summarizing study design.
No full text<p>We applied a two stage study design, where the top signals from the meta-analysis of three GENIE studies (UK-ROI, FinnDiane and GoKinD US) were followed up in phase two analysis, consisting of nine T1D cohorts. After combined meta-analysis, two signals reached genome-wide significance in the analysis of ESRD (<i>P</i><5×10<sup>−8</sup>). For DN phenotype no loci reached this threshold, but the strongest association was observed for <i>ERBB4</i>. These signals were followed up with eQTL studies and functional analysis. The number of patients (N) refers to the number of samples after genotype quality control; either the total number of samples or divided into cases/controls.</p
Forest plots for significant hits incorporating discovery and replication plots.
No full text<p>Plots show the study-specific association estimates (OR) and 95% confidence intervals for the discovery and second phase studies. (A) Association of rs7583877 with ESRD; heterogeneity <i>P</i> = 0.037. (B) Association of rs12437854 with ESRD; heterogeneity <i>P</i> = 0.046. (C) Association of rs7588550 with DN; heterogeneity <i>P</i> = 0.467. The association estimate and confidence interval for the meta-analysis combining the discovery and second-stage results are denoted by the diamond.</p
Regional association plots for top ranked SNPs with associated gene expression data.
No full text<p>Panels represent independent signals for the primary DN and ESRD analysis. The color of the SNP symbol indicates the linkage disequilibrium (r<sup>2</sup>) with the index SNP which is colored purple. Blue and red gene colors in the lower part of each figure panel indicate up and down regulation in tubulointerstitial or glomerular DN kidney biopsies, respectively. Genes with no change in expression are indicated with black; no data on gene expression with gray color. (A) Association of rs7583877 with ESRD. (B) Association of rs12437854 with ESRD. (C) Association of rs7588550 with DN.</p
