Warfarın increases the risk of vascular calcification in haemodialysis patients a multicenter case-control study

57th ERA-EDTA CongressERA, EDT

Povezanost genskoga polimorfizma OPRM1 A118G s ovisnosti u turskoj populaciji

Susceptibility to addiction has a complex genetic basis that includes genes associated with the action and metabolism of drugs of abuse. One important gene in that respect is OPRM1, which codes for the μ-opioid receptor and has an important role in mediating the rewarding effects of addiction substances. The aim of our study was to assess the prevalence of the OPRM1 A118G polymorphism (rs1799971) in Turkish population and to investigate its association with opioid and other substance addiction. In addition, we examined the association of rs1799971 in addicted patients who were also diagnosed with psychiatric disorders. The study included 103 patients addicted to opioids, cocaine, ecstasy, alcohol, lysergic acid diethylamide (LSD), cannabis, and sedative/hypnotic substances and 83 healthy volunteers with similar demographic features as controls. rs1799971 polymorphisms were identified with the polymerase chain reaction restriction fragment length polymorphism method (PCR-RFLP). The genotype frequencies were significantly higher in the addicted patients than controls (32.0 % vs 16.9 %, respectively; p=0.027). The prevalence of the G allele was 16.1 % in the addicted group and 8.4 % in the control group (p=0.031). Our study confirmed the association between the rs1799971(G) allele frequency and opioid and other substance addiction, but not with psychiatric disorders.Sklonost ovisnosti ima svoju složenu gensku pozadinu, koja obuhvaća gene povezane s djelovanjem i metabolizmom opojnih tvari i droga. U tom je smislu jedan od istaknutih gena OPRM1, koji kodira μ-opioidni receptor te ima važnu ulogu u nagradnom djelovanju tvari koje stvaraju ovisnost. Cilj je ovoga istraživanja bio utvrditi prevalenciju OPRM1 A118G polimorfizma (rs1799971) u turskoj populaciji te njegovu povezanost s ovisnosti o opijatima i drugim drogama. Usto smo istražili povezanost rs1799971 u ovisnika s dijagnozom psihijatrijskih poremećaja. Istraživanje je obuhvatilo 103 ovisnika o opioidima, kokainu, ekstaziju, alkoholu, lizergidu (LSD-u), kanabisu i o sedativima/hipnoticima, odnosno 83 zdrava dobrovoljca sličnih demografskih karakteristika koji su poslužili kao kontrolna skupina. Polimorfizmi rs1799971 utvrđeni su pomoću metode lančane reakcije polimerazom s obzirom na dužinu restrikcijskoga fragmenta (PCR-RFLP). Učestalost ciljanoga genotipa bila je značajno viša u ovisnika nego u kontrolnih ispitanika (32,0 % odnosno 16,9 %; p=0,027), a učestalost G alela iznosila je 16,1 % u ovisnika, odnosno 8,4 % u kontrolnoj skupini (p=0,031). Time je naše istraživanje potvrdilo povezanost između učestalosti rs1799971(G) alela i ovisnosti o opioidima i drugim opojnim tvarima, ali ne i povezanost s psihijatrijskim poremećajima

Serum Paraoxonase, Arylesterase, and GlutathioneS-Transferase Activities and Oxidative Stress Levels in Patients with Mushroom Poisoning

OBJECTIVES: Consumption of toxic species of mushrooms may have detrimental effects and increase oxidative stress. Paraoxonase, arylesterase and glutathione-S-transferase are antioxidants that resist oxidative stress. In this study, we analyzed the changes in these enzymes during intoxication due to mushrooms. METHODS: The study enrolled 49 adult patients with a diagnosis of mushroom poisoning according to clinical findings and 49 healthy volunteers as the control group. The patients with mild clinical findings were hospitalized due to the possibility that the patient had also eaten the mushrooms and due to clinical findings in the late period, which could be fatal. Paraoxonase, arylesterase, and glutathione-S-transferase concentrations, as well as total antioxidant and oxidant status, were determined in the 49 patients and 49 healthy volunteers by taking blood samples in the emergency department. RESULTS: While paraoxonase, arylesterase, and total antioxidant status were significantly decreased in the patient group (po0.05), glutathione-S-transferase, total oxidant status and the oxidative stress index were significantly higher (po0.05). There was a positive correlation between the hospitalization time and the oxidative stress index (r=0.752, po0.001), whereas a negative correlation was found with glutathione-S-transferase (r=-0.420, p=0.003). CONCLUSION: We observed a significant decrease in paraoxonase and arylesterase and an increase in glutathione-S-transferase and oxidative stress indexes in patients with mushroom poisoning, indicating that these patients had an oxidative status. In particular, a low total antioxidant status and high oxidative stress index may gain importance in terms of the assessment of hospitalization duration

A multicenter study of the clinical, laboratory characteristics and potential prognostic factors in patients with aa amyloidosis on hemodialysis

Introduction While light chain (AL) amyloidosis is more common in western countries, the most common type of amyloidosis is amyloid A (AA) amyloidosis in Eastern Mediterranean Region, including Turkey. Although worse prognosis has been attributed to the AL amyloidosis, AA amyloidosis can be related to higher mortality under renal replacement therapies. However, there are no sufficient data regarding etiology, clinical presentation, and prognostic factors of AA amyloidosis. The objective of our study is to evaluate the clinical, laboratory characteristics, and possible predictive factors related to mortality in patients with AA amyloidosis undergoing hemodialysis (HD). Methods This multicenter, cross-sectional study was a retrospective analysis of 2100 patients on HD. It was carried out in 14 selected HD centers throughout Turkey. Thirty-two patients with biopsy-proven AA amyloidosis and thirty-two control patients without AA amyloidosis undergoing HD were included between October 2018 and October 2019. There was no significant difference between the groups in terms of age and dialysis vintage. Causes of AA amyloidosis, treatment (colchicine and/or anti-interleukin 1 [IL] treatment), and the number of familial Mediterranean fever (FMF) attacks in the last year in case of FMF, systolic and diastolic blood pressures, biochemical values such as mean CRP, hemoglobin, serum albumin, phosphorus, calcium, PTH, ferritin, transferrin saturation, total cholesterol levels, EPO dose, erythropoietin-stimulating agents resistance index, interdialytic fluid intake, body mass indexes, heparin dosage, UF volume, and Kt/V data in the last year were collected by retrospective review of medical records. Findings Prevalence of AA amyloidosis was found to be 1.87% in HD centers. In amyloidosis and control groups, 56% and 53% were male, mean age was 54 +/- 11 and 53 +/- 11 years, and mean dialysis vintage was 104 +/- 94 and 107 +/- 95 months, respectively. FMF was the most common cause of AA amyloidosis (59.5%). All FMF patients received colchicine and the mean colchicine dose was 0.70 +/- 0.30 mg/day. 26.3% of FMF patients were unresponsive to colchicine and anti-IL-1 treatment was used in these patients. In AA amyloid and control groups, erythropoietin-stimulating agents resistance index were 7.88 +/- 3.78 and 5.41 +/- 3.06 IU/kg/week/g/dl, respectively (p = 0.008). Additionally, higher CRP values (18.78 +/- 18.74 and 10.61 +/- 10.47 mg/L, p = 0.037), lower phosphorus (4.68 +/- 0.73 vs. 5.25 +/- 1.04 mg/dl, p = 0.014), total cholesterol (135 +/- 42 vs. 174 +/- 39 mg/dl, p < 0.01), and serum albumin (3.67 +/- 0.49 mg/dl, 4.03 +/- 0.22, p < 0.01) were observed in patients with AA amyloidosis compared to the control group. Discussion In this study, we found that long-term prognostic factors including higher inflammation, malnutritional parameters, and higher erythropoietin-stimulating agents resistance index were more frequent in AA amyloidosis patients under HD treatment

Phenytoin intoxication with no symptoms correlated with serum drug level: a case study

In high-dose intake of phenytoin, which is used frequently to treatepilepsy, nystagmus, diplopia, nausea-vomiting, lethargy, confusion, seizure, and coma can be observed. In recent studies on phenytoin intoxication, in which seizure and coma were observed in drug levels greater than 50 ug/mL. The serum phenytoin level of apatient, who consumed approximately 100 pcs of 100 mg phenytoin tablets in an effort to commit suicide, and who had no pathological finding in her neurologic examination, was 124 ug/mL. High drug level and the absence of toxic effect (or the absence of toxic effect correlated with the drug level) indicates that cytochrome P450 is functioning, but there can be a mutation in the MDR1 gene. In our case study, we report on phenytoin intoxication in a patient having a high level of phenytoin but no symptoms correlated with serum drug level, as supported by the findings in the literature.Pan African Medical Journal 2015; 2

The evaluation of doxorubicin-induced cardiotoxicity: Comparison of Doppler and tissue Doppler-derived myocardial performance index

Background: Doxorubicin is a chemotherapeutic agent used in a wide spectrum of cancers. However, cardiotoxic effects have limited its clinical use. The early detection of doxorubicin-induced cardiotoxicity is crucial. The purpose of our study was to assess values of Doppler and tissue Doppler imaging (TDI)-derived myocardial performance index (MPI) in adult cancer patients receiving doxorubicin treatment. Methods: A total of 45 patients underwent echocardiographic examinations before any doxorubicin had been administered and then after doxorubicin. Doppler and TDI-derived MPI of left ventricular (LV) were determined in the evaluation of cardiotoxicity. Additionally, TDI-derived MPI of right ventricular (RV) was determined. Results: All patients underwent control echocardiographic examination after mean 5 &#177; 1.7 months. The LV MPI obtained by both Doppler and TDI were increased after doxorubicin treatment (0.56 &#177; 0.11, 0.61 &#177; 0.10, p = 0,005 vs 0.51 &#177; 0.09, 0.59 &#177; 0.09, p = 0.001, respectively). There was no correlation between Doppler-derived MPI and cumulative doxorubicin dose (coefficient of correlation 0.11, p = 0.6). TDI-derived MPI was correlated with cumulative doxorubicin dose (coefficient of correlation 0.35, p = 0.015), but this correlation is weak (r = 0.38). The study population was divided into two groups according to doxorubicin dose (below and above 300 mg level). There was a moderate correlation between TDI-derived MPI and less than 300 mg of doxorubicin dose (coefficient of correlation 0.51, p = 0.028). However, Doppler-derived MPI was not correlated with less than 300 mg of doxorubicin dose (coefficient of correlation 0.38, p = 0.123). Also, there was no significant change in the TDI-derived RV-MPI (0.49 &#177; 0.14, 0.50 &#177; 0.12, p = 0.56). Conclusions: TDI-derived MPI is a useful parameter and an early indicator compared with Doppler-derived MPI in the detection of cardiotoxicity during the early stages. Also, doxorubicin administration does not affect RV function

The Turkish Version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR)

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Turkish language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the 3 Likert assumptions, floor/ceiling effects, internal consistency, Cronbach\u27s alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity). A total of 466 JIA patients (13.7% systemic, 40.6% oligoarticular, 22.5% RF negative poly-arthritis, and 23.2% other categories) and 93 healthy children were enrolled in four centres. The JAMAR components discriminated well-healthy subjects from JIA patients. All JAMAR components revealed good psychometric performances. In conclusion, the Turkish version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research

Genetic Association of a Gain-of-Function IFNGR1 Polymorphism and the Intergenic Region LNCAROD/DKK1 With Behcet's Disease

Objective. Behçet’s disease is a complex systemic inflammatory vasculitis of incompletely understood etiology. This study was undertaken to investigate genetic associations with Behçet’s disease in a diverse multiethnic population.Methods. A total of 9,444 patients and controls from 7 different populations were included in this study. Genotyping was performed using an Infinium ImmunoArray- 24 v.1.0 or v.2.0 BeadChip. Analysis of expression data from stimulated monocytes, and epigenetic and chromatin interaction analyses were performed.Results. We identified 2 novel genetic susceptibility loci for Behçet’s disease, including a risk locus in IFNGR1(rs4896243) (odds ratio [OR] 1.25; P = 2.42 × 10−9) and within the intergenic region LNCAROD/DKK1 (rs1660760) (OR 0.78; P = 2.75 × 10−8). The risk variants in IFNGR1 significantly increased IFNGR1 messenger RNA expression in lipopolysaccharide- stimulated monocytes. In addition, our results replicated the association (P 30 genetic susceptibility loci with a suggestive level of association (P < 5 × 10−5), which will require replication. Finally, functional annotation of genetic susceptibility loci in Behçet’s disease revealed their possible regulatory roles and suggested potential causal genes and molecular mechanisms that could be further investigated.Conclusion. We performed the largest genetic association study in Behçet’s disease to date. Our findings reveal novel putative functional variants associated with the disease and replicate and extend the genetic associations in other loci across multiple ancestries