The vitamin D receptor (VDR) gene rs11568820 variant is associated with type 2 diabetes and impaired insulin secretion in Italian adult subjects, and associates with increased cardio-metabolic risk in children.

Background And Aims: 1α,25-dihydroxyvitamin-D3, the biologically active vitamin D, plays a central role in several metabolic pathways through the binding to the vitamin D receptor (VDR). VDR has been shown to be involved in cardiovascular diseases, cancer, autoimmunity and type 2 diabetes mellitus (T2DM). Several polymorphisms in the VDR gene have been described.

Search for Genetic Variant in the Apelin Gene by Resequencing and Association Study in European Subjects.

Aims: Apelin is a peptide produced and secreted by white adipose tissue. It is synthesized as preproapelin, a protein containing 77 aminoacids which is then cleaved to shorter active fragments. As an adipokine, apelin plays a role in the regulation of many biological functions, including body energy homeostasis and glucose metabolism, water balance, and immunity.

The perilipin 2 (PLIN2) gene Ser251Pro missense mutation is associated with reduced insulin secretion and increased insulin sensitivity in Italian obese subjects.

Background: Perilipin 2 (PLIN2), a member of the family of perilipin lipid droplets coating proteins, is very widely expressed. The Ser251Pro (rs35568725) missense mutation in exon 6 of PLIN2 gene was previously associated with increased lipid accumulation, decreased lipolysis and increased number of small lipid droplets per cell. Furthermore, the Pro251 mutation was associated with decreased plasma triglyceride and very low density lipoprotein concentrations in population studies.

C1-C2 X-Ray assessment of misalignment parameters in patients with Chronic Cerebra-spinal Venous Insufficiency and Multiple Sclerosis versus patients with other pathologies.

Purpose: The complete compression of the internal jugular veins, in front position, shows a prevalence of 48% and it is equally distributed in the various segments of these veins in patients with Chronic Cerebro-Spinal Venous Insufficiency (CCSVI) and Multiple Sclerosis (MS). The aim of this search is to identify radiological dislocation of C1-C2 as specific markers in patients with CCSVI and Multiple Sclerosis (MS).

Method: We investigated 386 patients suffering from CCSVI and Multiple Sclerosis and a control group of 156 patients without MS.

Wave motion and dispersion phenomena: veering, locking and strong coupling effects.

The dispersion curves describe wave propagation in a structure, each branch representing a wave mode. As frequency varies the wavenumbers change and a number of dispersion phenomena may occur. This paper characterizes, analyzes, and quantifies these phenomena in general terms and illustrates them with examples.