Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever

<p>Abstract</p> <p>Background</p> <p>MEFV mutations and decreased expression level of the gene are related to FMF pathology. DNA methylation at CpG islands is a well-known mechanism for transcriptional silencing. MEFV has a CpG island, spanning a part of the first intron and the whole of the second exon of the gene covering 998 bp region. Here, we tested the hypothesis that the MEFV transcript level in FMF patients correlates with its methylation level, and methylation, by allowing transcription silencing, has a role in FMF ethiopathogenesis.</p> <p>Methods</p> <p>The study group was composed of pediatric FMF patients (N = 51) and age-gender matched healthy controls (N = 21). The relative expression level of MEFV was assessed via quantitative real-time PCR (qRT-PCR) and bisulfite sequencing (BS) was performed to analyse the methylation level quantitatively.</p> <p>Results</p> <p>MEFV expression in FMF patients were decreased compared to healthy controls (<it>P </it>= 0.031). Methylation level of exon 2 of MEFV was found to be slightly higher in FMF patients compared to healthy controls (76% versus 74%) (<it>P </it>= 0.049). The expression level of the MEFV was negatively correlated with the methylation level of the CpG island in both FMF and healthy controls groups (cor = -0.29, <it>P </it>= 0.041) but more so in the FMF only group (cor = -0.36, <it>P </it>= 0.035).</p> <p>Conclusions</p> <p>In this study, the relation between reduced MEFV expression level and FMF was confirmed. Observed slight increase in methylation in FMF patients, and correlation of methylation with expression might be indicative of its role in FMF, however a larger dataset is needed to confirm our preliminary findings.</p

Economic impact of juvenile idiopathic arthritis and familial Mediterranean fever in Turkey

The aim of the study was to determine the economical impact of juvenile idiopathic arthritis (JIA) and familial Mediterranean fever (FMF) in Turkey. A total of 100 patients (69 F/31 M) with JIA and 100 with FMF (68 F/32 F) who were consecutively seen in the outpatient clinic of the pediatric rheumatology department at Cerrahpasa Medical School between August 2008 and January 2009 were studied. Cost data were collected through a questionnaire filled out by the parents. The mean age (JIA: 11 ± 5 years; FMF:12 ± 4 years) and mean disease duration (JIA:5 ± 3 years; FMF: 4 ± 3 years) of the patients were similar. JIA patients were assigned to 5 subtypes (polyarticular: n = 45, oligoarticular: n = 30, systemic onset: n = 13, psoriatic: n = 6, and enthesopathy-related JIA: n = 6). Forty-nine percent of the patients with JIA were treated with anti-TNF drugs and 61% with DMARDs. All patients with FMF were using colchicine. The total annual cost of JIA (€3,994 ± 4,101) was considerably higher than that of FMF (€162 ± 77) (P < 0.001). Medication fee was the major determinant of total costs in both diseases constituting 85% in JIA and 39% in FMF. Among the subtypes of JIA, total annual costs were the highest among patients with polyarticular type (€6,045 ± 4,078). Medications especially anti-TNF drugs were the major contributor among all determinants of costs in JIA. The low costs of health care system and prominent changes in the health care policies for the last 5 years in Turkey might have played role in our findings

Carnitine supplementation improves apolipoprotein B levels in pediatric peritoneal dialysis patients

There have been conflicting reports concerning the effect of carnitine supplementation on lipid metabolism in patients on peritoneal dialysis (PD). We investigated several parameters of lipid metabolism in pediatric PD patients supplemented with carnitine. The study included 20 patients receiving PD (treatment group) aged 2-18 years and a matched healthy control group. In the treatment group, baseline triglyceride, total cholesterol, low-density lipoprotein cholesterol, very low-density lipoprotein cholesterol, and apolipoprotein B levels were higher than in the control group. High-density lipoprotein cholesterol, free fatty acid, phospholipids, and apolipoprotein A-I levels were not different from those in the control group. The baseline plasma free carnitine level was lower and acyl-carnitine level was higher in the treatment group. No difference was found between the groups with respect to plasma total carnitine levels. Oral l-carnitine supplementation (50 mg/kg per day for 30 days) led to a significant decrease (from a baseline value of 146.6+/-51.8 mg/dl to 63.6+/-22.2 mg/dl, P<0.001) in apolipoprotein B levels, and no significant change in the other lipid parameters of the treatment group. Oral l-carnitine supplementation does not ameliorate the lipid profile in pediatric PD patients, but it causes a significant decrease in apolipoprotein B levels. Hence, carnitine supplementation may be recommended for decreasing apolipoprotein B levels in this patient population

Hypercalciuria and hematuria in juvenile rheumatoid arthritis

Objective. To investigate the frequency of hypercalciuria and the relationship between hypercalciuria and hematuria in patients with juvenile rheumatoid arthritis (JRA)

Blood volume monitoring to adjust dry weight in hypertensive pediatric hemodialysis patients

The aim of this study was to adjust dry weight by short-term blood volume monitoring (BVM)-guided ultrafiltration and evaluate the effects of optimizing dry weight on blood pressure (BP) control and intradialytic symptoms (IDS) in a group of hypertensive hemodialysis (HD) patients. The study was performed in four sequential phases, each of which lasted for 1 week, on nine hypertensive HD patients (six girls, age 16.9 +/- 3.1 years). In phase I, patients were observed by BVM. In phase II, BVM was used to guide ultrafiltration to adjust dry weight. Antihypertensive drugs were gradually tapered or withheld in phase III, when the patients were hypotensive and/or their IDS increased. In phase IV, this particular weight was maintained without any intervention. Pre- and post-HD body weight, pre-HD, post-HD, 30 min after HD casual BP values, and IDS in each HD session were recorded. The BP was also assessed by 44-h ambulatory BP monitoring (ABPM), which is an ideal method to determine BP changes throughout the interdialytic period at the beginning of phase I and at the end of phase IV. There was a decrease in mean dry weight, all casual systolic BPs, and systolic/diastolic ABPM at the end of the study (all p a parts per thousand currency signaEuro parts per thousand 0.05). Antihypertensive drugs were stopped in five patients and reduced in two during phase III of the study. The IDS was more frequent (36%) in phase IV than in phase I (16%); however, this increase did not reach statistical significance. The results of this study suggest that short-term BVM guided-ultrafiltration may be a useful tool to diagnose volume overload and to adjust dry weight and, consequently, to achieve a better control of BP in pediatric HD patients

Cardiopulmonary exercise testing in juvenile idiopathic arthritis

Objective. To assess aerobic fitness and exercise capacity in patients with juvenile idiopathic arthritis (JIA) and to determine subgroup differences