Ferhan Candan

Comparison of Body Composition Analysis Methods in Clinical Routine

Background: Skinfold thickness (SFT) and bioelectrical impedance (BIA) are readily available and commonly used techniques in patient monitoring for body composition analysis (BCA) in clinical practise. Another one, dual-energy X-ray absorptiometry (DEXA) method became popular in body composition analysis (BCA) in recent years. Its results have been reported to be quite accurate and precise, in comparison with in vivo or in vitro multiple component reference methods. The aim of the present study was to assess the degree of agreement between SFT and DEXA, and BIA and DEXA methods, in obese and nonobese patients. Methods: Body fat mass (FM) was measured in 16 nonobese (mean body mass index; BMI = 22.2 ± 2.2 kg/m2) and in 21 obese (BMI = 34.5 ± 6.1 kg/m2) women with DEXA, SFT, and BIA in the same morning. Results: Mean (± SD) FM (kg) was 16.3 ± 5.5, 15.0 ± 5.1, 14.7 ± 4.9 in nonobese subjects and 38.8 ± 10.1, 36.3 ± 10.0, 37.1 ± 12.0 in obese patients, by DEXA, SFT and BIA, respectively. Comparison of the DEXA-BIA and DEXA-STF methods showed high correlation in regression line analysis in nonobese subjects as, r2 = 0.93 and 0.89, respectively. Regression coefficents were 0.84 and 0.75 in obese patients. However, reanalysis of the data by the Bland and Altman method revealed an obvious lack of agreement between the DEXA-BIA and DEXA-SFT methods in obese patients. In addition, FM was underestimated by BIA and SFT as compared to DEXA in both of the study groups. Besides, better precision was obtained by DEXA method among the others. Conclusion: The SFT or BIA method would be preferred to monitor BCA in non-obese subjects in clinical routine. However, DEXA should be considered as the method of choice in obese patient monitoring, since reproducibility gains special importance, other than the accuracy in the context.

Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers

The Familial Mediterranean Fever (FMF) shows an autosomal recessive pattern of inheritance and affects certain ethnic groups. Disease is caused by mutations in MEFV gene and more than 180 mutations have been defined in affected individuals. Current study aimed to determine the frequency-type of the mutations for MEFV gene in Sivas—middle Anatolian city. The cohort was composed of 3340 patients. MEFV gene mutations were studied by multiplex PCR based reverse hybridization stripAssay method. Patients’ clinical features were; family history: 68%, erysipelas-like erythema: 17.6%, fever: 89.9%, abdominal pain: 84.2%, peritonitis: 90.2%, arthritis: 33%, pleuritis: 14.2%, parental consanguinity: 21.2%. Current results revealed that M694V is the most frequent mutation (43.12%), followed by E148Q (20.18), M680I(G/C) (15.00%) and V726A (11.32%). The study population has a high rate of carriers and the E148Q mutation frequency was found to be highest when compared to the other regions of Turkey and other Mediterranean groups.

Evaluation of association between atherogenic index of plasma and intima-media thickness of the carotid artery for subclinic atherosclerosis in patients on maintenance hemodialysis.

Incidence of cardiovascular diseases in the patients having chronic kidney disease (CKD) is between 25% and 60%. This increased rate is proposed to be associated with “accelerated atherosclerosis.” Increased carotid intima‐media thickness (CIMT) is a subclinical atherosclerosis marker. Small‐dense low‐density lipoprotein particles are a strong risk factor for atherosclerosis. It was shown that atherogenic index of plasma (AIP = log(TG/HDL‐c)) is correlated with size of the lipoprotein particles. We investigated the correlation between AIP and CIMT which is a subclinical atherosclerosis marker, in hemodialysis (HD) patients. A total of 62 persons with 31 patients under HD therapy and 31 volunteers were included in the study. In all the participants, CIMT was measured and AIP were calculated. AIP and CIMT values of the participants were compared with blood pressures, lipid profiles and the other risk factors. AIP (0.39 ± 0.32) and CIMT (0.57 ± 0.13) were found significantly higher in the patient group than in the controls (0.04 ± 0.36 and 0.45 ± 0.119, respectively); (P = 0.0001 and 0.0001, respectively). There was a significant correlation between AIP and increased CIMT in the patient group (P = 0.0001, r = 0.430). Among the lipid parameters, the strongest correlation was found between CIMT and AIP. We demonstrated the significant increase of AIP and CIMT in HD patients. A correlation was found between AIP and CIMT. AIP was found to show a correlation with a greater number of risk factors, both classical and CKD specific, than CIMT. These data suggest that AIP might be a method which can be used both in diagnosis of subclinical atherosclerosis and in deceleration processes of its progression.

Association between ABCB1 (MDR1) Gene 3435 C>T Polymorphism and Colchicine Unresponsiveness of FMF Patients

The multidrug resistance gene-1 (MDR1, adenosine triphosphate-binding cassette transporter: ABCB1, P-glycoprotein) encodes membrane proteins that play a crucial role in protecting cells from xenobiotics, chemicals, and drugs. The TT genotype of 3435 codon in exon 26 of MDR1 gene causes overexpression of gene activity and effluxes many chemically diverse compounds across the plasma membrane. We studied the association between C3435T polymorphisms (single nucleotide polymorphism) of MDR1 gene and colchicine-resistant familial Mediterranean fever (FMF) patients. Total genomic DNA samples from 52 FMF patients of colchicine unresponsiveness were used for FMF (MEFV) and MDR1 genes profile analyses. Target genes were genotyped by multiplex PCR-based reverse-hybridization Strip Assay method. The preliminary current results showed increased T allele frequency (0.596) in colchicine unresponsiveness of FMF patients. The distributions of the CC, CT, and TT genotypes in colchicine nonresponder FMF patients were 17%, 46%, and 37%, respectively. Our results indicate that C3435T polymorphism in exon 26 of MDR1 gene is associated with colchicine resistance in nonresponder FMF patients during the common therapy protocol.

The Presence of PAI-1 4G/5G and ACE DD Genotypes Increases the Risk of Early-Stage AVF Thrombosis in Hemodialysis Patients

Background: In this study, we investigated the relationship between early arteriovenous fistula (AVF) thrombosis with angiotensin-converting enzyme (ACE) gene and thrombophilic factor gene polymorphisms. Methods: Thirty-five patients who suffered from three or more fistula thrombosis episodes in the early period after AVF operation and 33 control patients with no history of thrombosis for at least 3 years were enrolled in this study. Results: Factor V G1691A Leiden, factor V H1299R (R2), prothrombin G20210A, factor XIIIV34L, β-fibrinogen-455 G-A, glycoprotein IIIa L33P human platelet antigens (HPA-1), methylenetetrahydrofolate reductase C677T, and methylenetetrahydrofolate reductase A1298C gene polymorphisms were similar in both groups (p > 0.05). Plasminogen activator inhibitor 1 (PAI-1) 4G/5G genotype in the study group and 4G/4G genotype in the control group were significantly higher (p = 0.014). No significant difference was detected in terms of the 5G/5G genotype. With regard to the ACE gene polymorphism, the control group showed more ID genotype (19/33, 57.6%), whereas the study group showed more DD genotype (17/35, 48.6%). II genotype was similar in both groups (x2 = 7.40, p = 0.025). The rate of ACE inhibitor-angiotensin II receptor blockers use was 5/35 in the study group (14.3%) and 5/33 in the control group (15.2%). Individuals with PAI-1 4G/5G genotype showed 5.03 times more risk of thrombosis when compared with 4G/4G and 5G/5G genotypes [p = 0.008, OR = 5.03, 95% confidence interval (1.44:17.64)]. Individuals with ACE DD genotype showed 4.25 times more risk of thrombosis when compared with II and ID [p = 0.008, OR = 4.25, 95% confidence interval (1.404:12.83)]. Conclusion: PAI-1 4G/5G and ACE DD genotypes are associated with increased risk for early AVF thrombosis.

INSPIRATORY MUSCLE STRENGTH IS CORRELATED WITH CARNITINE LEVELS IN TYPE 2 DIABETES

Introduction. Plasma carnitine insufficiency has been known to cause muscle weakness. Carnitine levels and pulmonary functions were lower in patients with diabetes. Patients and Methods. To determine whether pulmonary functions are correlated with carnitine levels in patients with type 2 diabetes. In this study, we evaluated pulmonary functions and carnitine concentrations in 49 patients with type 2 diabetes and 34 healthy controls. Results. Carnitine levels were lower in type 2 diabetes group than control group (52.56 ± 12.38 and 78.96 ± 10.66 hmol/mL, respectively, p < 0.0001). Pulmonary functions were not significantly different between groups. Carnitine levels were not correlated with age, duration of diabetes, fasting blood glucose levels, and glycemic control (HbA1c%) in patients with type 2 diabetes. However, carnitine levels in patient group were correlated with % forced vital capacity (FVC%) (r = 0.35, p = 0.016), % forced expiratory volume in 1 s (FEV1%) (r = 0.318, p= 0.029), FEV1/FVC (r= 0.302, p= 0.039), inspiratory muscle strength (PImax) (r = 0.407, p = 0.023), and PImax% (r = 0.423, p= 0.018). Conclusion. This study suggests that low carnitine levels may be associated with lower PImax and PImax% in type 2 diabetes.

Clinical and molecular analysis of common MEFV gene mutations in familial Mediterranean fever in Sivas population.

Familial Mediterranean fever (FMF) is the most frequent hereditary inflammatory disease characterized by self-limited recurrent attacks of fever and serositis. The aim of the current study is to determine the frequency of the mutations in 365 suspected FMF patients and to reveal whether there is a correlation between genotype and phenotype of these patients. All patients were clinically examined according to Tell-Hashomer FMF criteria and were screened genetically in terms of common 12 Mediterranean fever gene (MEFV) mutations. Various point mutations were detected in 270 (74%) patients. The most frequent mutation was M694V (26.85% of the alleles) and was followed by E148Q (15.55%), M680I (G/C) (9.62%) and V726A (7.96%). Patients who bear M694V homozygous mutation had most severe disease phenotype and high risk for amyloidosis (P = 0.04). Our results indicate that Sivas population has a wide range of heterozygous mutated carriers of MEFV gene and there is a high frequency of E148Q allele when compared to the other Mediterranean groups.

Bcıı--RFLP profiles for serum amiloid A1 and mutated MEFV gene prevalence in chronic renal failure patients requiring long-term hemodialysis.

Abstract Background and aim: There is an increased mortality risk in long-term hemodialysis patients of renal failure due to the chronic inflammation. The relationship between the chronic renal failure (CRF) and the role of familial genetic markers remains incompletely understood. In the current study, it was aimed to find out the prevalence of common MEFV gene mutations and BcII polymorphism in serum amyloid A1 (SAA1) gene in chronic renal patients (CRF) who require long-term hemodialysis. Method: Current cohort includes 242 CRF patients and 245 healthy individuals from the same population. Total genomic DNA was isolated from peripheral blood–EDTA samples and genotyping of target MEFV gene was carried out by reverse hybridization Strip Assay and real-time techniques. The SAA1 gene was genotyped by the BclI-RFLP method. Results: Increased mutated MEFV genotypes were found in current CRF patients when compared with the control group from the same ethnicity and the difference was statistically significant (Table 2) (OR: 4.9401, 95% CI: 3.0694–7.9509), p < 0.0001. The most frequent point mutations were M694V and E148Q. The mutated T allel frequency in the SAA1 gene was also different when compared with the healthy controls and the difference was found to be statistically significant (χ2: 13.18; p = 0.000). Conclusions: The current results indicate the germ-line mutations in both genetic biomarkers (MEFV and SAA1 genes) that are related to inflammation and amyloidosis processes may play a crucial role in CRF pathogenesis due to the long-term chronic inflammation.

Carotid artery Doppler ultrasonography in patients with chronic kidney disease

Background We investigated the changes in the values of carotid intima-media thickness (IMT) and Doppler index measurements in the autosomal dominant polycystic kidney disease (ADPKD), peritoneal dialysis (PD), and hemodialysis (HD) patients. Material/Methods Twenty outpatients on HD (mean age 46.1±16.4), 27 outpatients on PD (mean age 45±12.4), and 26 normotensive outpatients with ADPKD (mean age 52.4±16.7) as the case groups and 21 healthy subjects (mean age 48.4±7.2), as the control group, were included. The participants underwent ultrasonography of the common, right, and left carotid arteries for the IMT and Doppler flow measurements. Results Overall, compared to the normal group, in the study groups, the IMT and peak systolic velocity (PSV), end-diastolic velocity (EDV), resistive index (RI), and pulsatility index (PI) were significantly higher in common carotid arteries; however, their differences were not meaningful in internal carotid arteries (p<0.05). Conclusions Overall, ADPKD, PD, and HD increase the IMT, PSV, EDV, RI, and PI values of CCA; however, their effect considerable less on the study parameters of ICA. There is no considerable difference among the effects of ADPKD, HD, and PD on the study parameters. Of CKD patients during the first diagnostic and follow-up workups, the measurements of carotid IMT and Doppler indices may provide valuable data for improving success of the clinical management.

Spontaneous renal laceration as the presenting feature of polyarteritis nodosa in a patient with familial Mediterranean fever after hepatitis A infection

We report a life-threatening spontaneous renal laceration with no history of bleeding diathesis or any trauma in a patient with FMF after acute hepatitis A virus (HAV) infection. Right nephrectomy was inevitable and histological investigation of the removed right kidney revealed a polyarterits nodosa (PAN). This case underlines the possibility that simultaneous PAN and immunsupressive treatment besides colchicine should be considered for patients with FMF. Also, patients with FMF who are not immune may be vaccinated for HAV which could be a predisposing mechanism for vasculitic hemorrhage.