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

On Kähler-Norden-Codazzi golden structures on pseudo-Riemannian manifolds

In this paper, we consider a pseudo-Riemannian manifold equipped with a Kähler-Norden-Codazzi golden structure. For such a manifold, we study curvature properties. Also, we define special connections of the first type and of the second type on the manifold, which preserve the associated twin Norden golden metric and satisfy some special conditions and present some results concerning them. © 2018 World Scientific Publishing Company

Eight-year follow-up of uncemented hydroxyapatite coated hip prosthesis for hip osteoarthritis secondary to developmental hip dysplasia [Gelişimsel kalça displazisi zemininde gelişen osteoartritli kalçalarda kullanilan çimentosuz hidroksiapatit kapli kalça protezlerinde sekiz yillik izlem]

Objectives: This study aims to investigate the mid-term clinical and radiological results of cementless hydroxyapatite coated total hip arthroplasty (THA) for hip osteoarthritis due to developmental dysplasia of the hip (DDH). Patients and methods: Between January 2004 and December 2010, 34 hips (12 Crowe type I, 12 Crowe type II, 4 Crowe type III, 6 Crowe type IV) of 30 patients (22 females, 8 males; mean age 53.4 years; range 30 to 75 years) with degenerative arthritis due to DDH were analyzed in terms of cementless hydroxyapatite coated acetabular component (EPF Plus®) over Zweymüller femoral component (Zweymüller SL-PLUS®) and porous coating. Clinical assessment was performed using Harris hip scores (HHS) preoperatively and at the last clinic visit, while radiological assessment was done according to the Callaghan and Engh's criteria. Results: The mean follow-up was 48 months (range, 25-91 months). The mean HHS was 44.97 (28-55) preoperatively and 92.25 (69-100) at the last visit. All femoral components were graded as stable according to Callaghan and Engh's criteria. Radiolucency was mostly observed in Gruen zones 1 and zone 7 of the femur [zone 1; 20 hips zone 7; 19 hips zone 2; one hip, zone 3; one hip and zone 6 one hip]. Around acetabular component, radiolucency was detected in zone 2 in 12 hips, zone 3 in 10 hips and zone 1 in six hips. Heterotopic ossification developed in two hips, while neuropraxy was detected in two hips postoperatively. Femoral fissure in one hip, nonunion in the femoral osteotomy line in one hip, and femoral head autograft nonunion in one hip developed. Conclusion: Mid-term results of uncemented Zweymüller femoral stem and hydroxyapatite coated press-fit using acetabular components for THA femoral stem are excellent

Evaluation of plantar pressure distributions in patients with anterior cruciate ligament deficiency: Preoperative and postoperative changes

Background/aim: Anterior cruciate ligament (ACL) deficiency results in several kinematic changes in the lower extremities. The aim of this study is to define the plantar pressure parameters in ACL-deficient patients and to show the effect of ACL reconstruction on dynamic plantar pressure. Materials and methods: Forty patients with unilateral ACL rupture and 40 healthy controls were included in this study. Dynamic plantar pressures of both groups were recorded by the EMED SF-2 system during level walking. Thirteen of the patients who had ACL reconstructions with hamstring autografts (HS group) were reevaluated at an average of 14.5 months following the ACL reconstructions. Results: ACL-deficient patients had significantly lower hindfoot (P = 0.007) but higher midfoot pressure values (P = 0.03) on their ipsilateral foot compared to control group subjects. Ipsilateral hindfoot pressures were also found to be significantly lower than those of the contralateral foot (P = 0.001). Hindfoot pressure values of the HS group were increased in postoperative measurements (P = 0.01). Conclusion: ACL-deficient patients have altered plantar pressure distributions and ACL reconstructions restore these changes to normal. Pedobarography might be used as a practical method for dynamic functional assessment of ACL-deficient patients. © TÜBİTAK