Progress in genetics of coronary artery disease

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Cardiomyopathy in Vici syndrome

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Effect of Short-Term High Fat Diet Inducing Obesity on Hematological, Some Biochemical Parameters and Testicular Oxidative Stress in Male Rats

Obesity constitutes a health problem due to its increasing worldwide prevalence. Among the health detriments caused by obesity, reproduction is disrupted. Some studies have shown a relationship between obesity and infertility, but until now it remains controversial. The objective of the current work was to examine the effect of diet-induced obesity on blood parameters, liver and kidney function tests, lipid profile and testicular oxidative stress. For that purpose, Male rats were fed ad libitum with a standard diet (control group; n.= 15) and high fat diet (HFD group; n.= 15) for 6 weeks. Hematological parameters, urea, creatinine, albumin were similar between the two groups. Intergroup testosterone levels were also comparable. The high fat diet induced significant increase in serum triglycerides, cholesterol, low density lipoprotein and very low density lipoprotein cholesterol concentrations. This diet also increases significantly alanine aminotransferase and aspartate aminotransferase activities and decreased total protein level and high-density lipoprotein cholesterol concentration. Furthermore, HFD showed a significant increasing in malondialdehyde contents in testes and decreasing in superoxide dismutase activity, the results of this study concluded that short-term high fat diet affect on liver enzymes and causing oxidative stress in testes

Editorial Board

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Supporting ISO 26262 with SysML, Benefits and Limits

International audienceThis article deals with the issue of deploying efficiently the ISO 26262: the new standard in automotive systems development. The directives enclosed in this norm demands the establishment of a product lifecycle fully integrating the safety assessment activities. To tackle this subject, this paper explores the way of setting up Model-Based Design methodology to express and organize the concepts manipulated during the ISO 26262 process. This attempt is founded on the use of SysML and on the creation of a profile dedicated to ISO 26262 development context. We provide an introduction to Model-Based Design paradigm and its appli-cation in a safety relevant context. An overview of ISO 26262 is given, followed by the description of an on-going project on the subject. Modeling propositions are formulated and the use of diverse SysML diagrams are mapped on the automotive safety lifecycle process

Cantu syndrome in an Egyptian child

We report a 3 month old female, third in order of birth of non consanguineous Egyptian parents with the typical features of Cantu syndrome including coarse features, low frontal hairline, hairy forehead, broad flat nasal bridge, anteverted nares, long philtrum, small low set ears, high arched palate, excess hair on the cheeks, short neck and excess hair over extremities and back. The patient had patent ductus arteriosus ligation, and mild pulmonary hypertension. Our patient has an affected mother which is consistent with autosomal dominant inheritance.Keywords: Cantu syndrome, Hypertrichosis, Coarse feature

Exploring The Effects Of Genetic Variation On Gene Regulation In Cancer In The Context Of 3D Genome Structure

Background Numerous genome-wide association studies (GWAS) conducted to date revealed genetic variants associated with various diseases, including breast and prostate cancers. Despite the availability of these large-scale data, relatively few variants have been functionally characterized, mainly because the majority of single-nucleotide polymorphisms (SNPs) map to the non-coding regions of the human genome. The functional characterization of these non-coding variants and the identification of their target genes remain challenging. Results In this communication, we explore the potential functional mechanisms of non-coding SNPs by integrating GWAS with the high-resolution chromosome conformation capture (Hi-C) data for breast and prostate cancers. We show that more genetic variants map to regulatory elements through the 3D genome structure than the 1D linear genome lacking physical chromatin interactions. Importantly, the association of enhancers, transcription factors, and their target genes with breast and prostate cancers tends to be higher when these regulatory elements are mapped to high-risk SNPs through spatial interactions compared to simply using a linear proximity. Finally, we demonstrate that topologically associating domains (TADs) carrying high-risk SNPs also contain gene regulatory elements whose association with cancer is generally higher than those belonging to control TADs containing no high-risk variants. Conclusions Our results suggest that many SNPs may contribute to the cancer development by affecting the expression of certain tumor-related genes through long-range chromatin interactions with gene regulatory elements. Integrating large-scale genetic datasets with the 3D genome structure offers an attractive and unique approach to systematically investigate the functional mechanisms of genetic variants in disease risk and progression

Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome

Ichthyosis is a genetically and phenotypically heterogeneous disease that can be  isolated and restricted to the skin manifestations or associated with extracutaneous symptoms. One of which is limb reduction defect known as CHILD syndrome; a rare inborn error of metabolism of cholesterol biosynthesis that is usually restricted to one side of the body. Here we describe an Egyptian child with generalized lamellar  ichthyosis and limb reduction defect. Most probably this is a simple association and not a rare case of CHILD syndrome with bilateral skin involvement.Keywords: Ichthyosis; Limb reduction; CHILD; Autosomal recessiv

Start-up delay Estimation at Signalized Intersections: Impact of Left-Turn Phasing Sequences

This paper aims to investigate the start-up delay at signalized intersections in Abu Dhabi (AD) city, UAE. Impact of external factors that may affect the start-up delay is examined including left turn phasing sequences (split/lead/lag), movement turning (through/left), intersection location (CBD/non-CBD) and day time (peak/off-peak). A new technique of data collection was applied based on the automate records of license plate of vehicles and a comparison with the traditional video recorded technique was carried out. Data covered 66 approaches of 36 signalized intersections. The analysis showed that overall estimated mean value of the start-up delay is 2.201 sec. with a standard deviation of 1.823 sec. The t-test shows significant statistical difference in start-up delay between observations at through and left movements, at CDB and non-CDB area and at split and lead/lag phasing. However, no significant differences were found between peak and off-peak periods and between split and lead phasing. In general, lead/lag phasing sequences not only improved the overall delay at signalized intersection but also improved the start-up delay.nbsp nbs