Lipoprotein abnormalities in chronic kidney disease and renal transplantation

Chronic kidney disease (CKD) is one of the most important risk factors for cardiovascular disease (CVD). Despite the kidney having no direct implications for lipoproteins metabolism, advanced CKD dyslipidemia is usually present in patients with CKD, and the frequent lipid and lipoprotein alterations occurring in these patients play a role of primary importance in the development of CVD. Although hypertriglyceridemia is the main disorder, a number of lipoprotein abnormalities occur in these patients. Different enzymes pathways and proteins involved in lipoprotein metabolism are impaired in CKD. In addition, treatment of uremia may modify the expression of lipoprotein pattern as well as determine acute changes. In renal transplantation recipients, the main lipid alteration is hypercholesterolemia, while hypertriglyceridemia is less pronounced. In this review we have analyzed lipid and lipoprotein disturbances in CKD and also their relationship with progression of renal disease. Hypolipidemic treatments may also change the natural history of CVD in CKD patients and may represent important strategies in the management of CKD patients

Optimization of RPCs read-out panel with electromagnetic simulation

With the upgrade of the RPCs [1]-[2] and the increase of its performances, the study and the optimization of the read-out panel is necessary in order to maintain the signal integrity and to reduce the intrinsic crosstalk. Through Electromagnetic Simulation, performed with CST Studio Suite, new panels design are tested and their crosstalk property are studied. The behavior of different type of panel is shown, in particular a panel with the decoupling strip connected through their characteristic impedance to the ground plane is simulated

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)

WAC (WW Domain Containing Adaptor With Coiled-Coil) mutations have been reported in only 20 individuals presenting a neurodevelopmental disorder characterized by intellectual disability, neonatal hypotonia, behavioral problems, and mildly dysmorphic features. Using targeted deep sequencing, we screened a cohort of 630 individuals with variable degrees of intellectual disability and identified five WAC rare variants: two variants were inherited from healthy parents; two previously reported de novo mutations, c.1661_1664del (p.Ser554*) and c.374C>A (p.Ser125*); and a novel c.381+2T>C variant causing the skipping of exon 4 of the gene, inherited from a reportedly asymptomatic father with somatic mosaicism. A phenotypic evaluation of this individual evidenced areas of cognitive and behavioral deficits. The patient carrying the novel splicing mutation had a clinical history of encephalopathy related to status epilepticus during slow sleep (ESES), recently reported in another WAC individual. This first report of a WAC somatic mosaic remarks the contribution of mosaicism in the etiology of neurodevelopmental and neuropsychiatric disorders. We summarized the clinical data of reported individuals with WAC pathogenic mutations, which together with our findings, allowed for the expansion of the phenotypic spectrum of WAC-related disorders

Ageing test of the ATLAS RPCs at X5-GIF

An ageing test of three ATLAS production RPC stations is in course at X5-GIF, the CERN irradiation facility. The chamber efficiencies are monitored using cosmic rays triggered by a scintillator hodoscope. Higher statistics measurements are made when the X5 muon beam is available. We report here the measurements of the efficiency versus operating voltage at different source intensities, up to a maximum counting rate of about 700Hz/cm^2. We describe the performance of the chambers during the test up to an overall ageing of 4 ATLAS equivalent years corresponding to an integrated charge of 0.12C/cm^2, including a safety factor of 5.Comment: 4 pages. Presented at the VII Workshop on Resistive Plate Chambers and Related Detectors; Clermont-Ferrand October 20th-22nd, 200