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

Osteochondroma leading to proximal tibiofibular synostosis as a cause of persistent ankle pain and lateral knee pain: a case report

This paper presents a case report of persistent ankle pain and lateral knee pain due to existing proximal tibiofibular synostosis

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

Benign neonatal sleep myoclonus mimicking status epilepticus

Benign neonatal sleep myoclonus is a self-limited movement disorder characterized by neonatal-onset myoclonic jerks only during sleep, abrupt and consistent cessation with arousal, and absence of concomitant electrographic changes suggestive of seizures. It has a good outcome and was included in the differential diagnosis of neonatal seizures. A presumed transient serotonin imbalance and genetic factors may play a role in the pathogenesis of this disorder. We report a case of benign neonatal sleep myoclonus mimicking status epilepticus in an infant with a family history of nocturnal myoclonus, tic disorder, and sleep disturbance. We suggest that this benign entity should be included in the differential diagnosis of status epilepticus during the newborn period

Opposite-direction bilateral fracture dislocation of the shoulders after an electric shock

Injuries after an electric shock, such as dermal burns, motor and sensory nerve deficits, fractures and dislocations, are reported in the literature. Posterior dislocation of the shoulder after electric-shock is the common musculoskeletal injury. Bilateral dislocation, either anterior or posterior, is rarely seen and reported. We report a case of bilateral shoulder fracture dislocation in opposite directions following an electric-shock and discuss the mechanism, the diagnosis and the treatment