Qatar Foundation Annual Research Forum Volume 2010 Issue 1

Abstract Primary ciliary dyskinesia is a heterogeneous autosomal recessive genetic disorder that leads to ultrastructural and functional defects of cilia. This leads to recurrent and persistent respiratory infections, sinusitis, otitis media, and male infertility. In a fraction of patients situs inversus is present. Primary ciliary dyskinesia can result from mutation in at least nine different genes. However, these mutations are responsible f Read More

Abstract Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism due to deficiency in the phenylalanine hydroxylase gene (PAH). This study describes the distribution of PAH mutations in nine probands from Libya with the diagnosis of phenylketonuria and hyperphenylalaninemia. Molecular genetics screening was done at the Shafallah Medical Genetics Center laboratory by resequencing an Read More

Abstract Purpose: Obesity has been recognized as a major public health problem worldwide that requires preventive action. Prevention is best targeted at children, but relatively few research studies have focused on obesity prevention and most of those were conducted in western countries. Qatar has undergone rapid industrialization and childhood obesity is emerging as a health problem. However, there is little inf Read More

Abstract Rett syndrome is a neurodevelopmental disorder that leads to regression in language and motor skills. In most cases, it is caused by genetic mutations in the methyl-CpG-binding protein 2 gene (MECP2). Rett Syndrome occurs almost exclusively in girls and may be easily misdiagnosed, because its spectrum of clinical characteristics is overlapping with characteristics of other disorders such as autism, ataxi Read More

Abstract Egypt has the highest prevalence of antibodies to hepatitis C virus (HCV) in the world, estimated nationally at 14.7%. An estimated 9.8% are chronically infected. Numerous HCV prevalence studies in Egypt have published various estimates from different Egyptian communities, suggesting that Egypt, relative to the other nations of the world, might be experiencing intense ongoing HCV transmission. More importa Read More

Abstract In the past decade, biodegradable elastomeric polymers have gained considerable attention due to the renewed interest in their applications in the fields of biomedical tissue engineering and implantable drug delivery systems. Elastomers can be regarded as one of the best biomaterials for such applications because their mechanical properties can be manipulated in a manner that makes them as soft as bod Read More

Abstract Oligopeptidase B (opdB, EC 3.4.21.83) is a member of the prolyl oligopeptidase family of serine peptidases and unrelated to the trypsin and subtilisin families. It is a potential processing enzyme of prokaryotes to produce biologically active products, being very specific for the basic amino acid pairs of polypeptides. Bacterial oligopeptidase B cleaves globular proteins, albeit in a highly restricted fashion. While most m Read More

Abstract The thrombospondin type 1 repeat (TSR) is an ancient extracellular protein domain that is commonly found in invertebrate and vertebrate proteins. The ADAMTSL4 protein, also known as TSRC1, belongs to the TSR superfamily and has multiple thrombospondin repeats, most of which are clustered at the C-terminus. It has been reported that some TSP1 domain-containing proteins, e.g. thrombospondin 1 and thrombos Read More

Abstract Background: Previous studies demonstrated polymorphisms of adiponectin receptor type1 (AdipoR1) as a strong determinant of coronary artery diseases (CAD) susceptibility in type 2 diabetes. The aim of the study is to investigate the associations of the genetic marker (SNP) no of AdipoR1 locus; rs10920531 with CAD in patients with and without type 2 diabetes in the population of Qatar. Methods: Blood was drawn f Read More

Abstract Metal toxicity is a global health concern. We summarize the evidence for metal interactions with the nervous system with an emphasis on synaptic transmission. The appropriate functioning of synaptic transmission is crucial for the information transfer in any neural network. Presynaptically, metal ions modulate transmitter release through their interaction with neurotransmitter (NT) synthesis, fusion of synapti Read More

Abstract Calreticulin is a conserved Ca2+ binding chaperone protein that is localized to the lumen of the endoplasmic reticulum (ER). The protein is implicated in many cellular functions such as the regulation of intracellular Ca2+ homeostasis, the regulation of gene expression, the folding of the newly synthesized proteins, cell adhesion, cancer and auto-immunity. The role of calreticulin in Ca2+ homeostasis regulation through Ca Read More

Abstract The Cohen's lab research focuses mainly on the regulation of mammalian meiosis in mouse models, which include several induced mutants that have helped in broadening our knowledge of meiotic recombination and the gametogenesis. The lab also studies several DNA mismatch repair (MMR) proteins and their subsequent effects on meiotic recombination. Thus, our research serves two major purposes; Read More

Abstract Cancer accounts for the death of thousands of people each year and brings pain and suffering to thousands more. Among cancers that specifically affect women, ovarian cancer has the highest fatality rate as 7 out of 10 women die within 5 years of surgery. As highlighted in numerous recent publications, the role of the microenvironment in the development and progression of cancer is critical, albeit not entir Read More

Abstract Over 14,000 babies are born in Qatar each year, and it is the State's intention to provide each with a health screen at birth for the timely diagnosis of inborn errors of metabolism. And since the population is characterized by a high consanguinity (estimates vary between 25–70%) from first-cousin marriages, congenital and genetic disorders are responsible for a major proportion of infant mortality, morbidity, and handic Read More

Abstract Epithelial ovarian carcinoma (EOC) is the sixth most common malignancy in women and the leading cause of death from gynecological cancer in the world. One of the main differences between ovarian cancers and other neoplasm is burden of local extension. Hence the majority of mortality in ovarian cancer is due to extensive peritoneal disease, with a high rate of mortality and an overall survival rate ranging from Read More

Abstract Dietary fat intake is associated with hepatobiliary cancers which carry a poor prognosis causing over 20,000 deaths per year in the US alone. We hypothesized that excess lipid accumulation in the liver promotes hepatic cancer through inflammation and oxidative DNA damage. In order for eukaryotic cells to protect genomic integrity, the protein kinase ataxia telangiectasia mutated (ATM) responds to oxidative DN Read More

Abstract Social interaction has drastically evolved over time. Moving away from face-to-face based interactions, telephone networks made the first step towards remote social interaction. The internet, further enhanced with the tremendous increase in lightweight mobile devices, has taken social interaction to new frontiers. Users can already email, chat, call, and video conference with others from around the world without necess Read More

Abstract Currently in Qatar, and to the best of our knowledge in most Gulf state countries, there is a lack of reliable information about traffic conditions and congestion. This information, especially if ubiquitous and near real time, is highly desirable to support consumer, enterprise, and government centric applications. Since no universal solution exists, a great deal of innovative research is needed. This research work ai Read More

Abstract Transmission Control Protocol (TCP)'s proven stability and scalability has made it the most widely used transport layer protocol for more than twenty years. However, as multimedia applications become ubiquitous over the internet, TCP has been found incapable of meeting their requirements, which place more emphasis on timeliness than on reliability. Because of that, many multimedia applications turn to UDP a Read More

Abstract In 2009, Carnegie Mellon Qatar, Qatar University, Texas A&M Qatar and IBM launched a joint research project on cloud computing. Cloud computing is a computing paradigm in which the computing resources, the software and the data are made available to the users as a service through the internet. In this paradigm, the software is no longer a standalone application installed on the user's platform, but resides on Read More

Abstract It is official. The automotive world is ramping up capabilities in simulation. Applications range from motorsports (optimization of vehicle dynamics, race track familiarization, car engineering), to driver-assistance systems (development of vehicle dynamics controllers), utilizing software in the loop (SIL) and hardware in the loop (HIL) validation in e.g. electronic control units (ECU). Another major emerging market is driver Read More

Abstract Spectrum sensing is one of the most important tasks of cognitive radios (CRs) in future wireless systems and of user equipment (UE) in next generation wireless networks (NGWNs). Therefore, deciding whether a specific portion of radio frequency (RF) spectrum is occupied or not is of paramount importance for all sorts of future wireless communications systems. In this study, a spectrum sensing method that employ Read More

Abstract SrTiO3 (STO) is a complex oxide perovskite of great technological interest for its superconductivity, blue-light emission and photovoltaic effect. In normal conditions, SrTiO3 crystallizes in the cubic Perovskite structure and undergoes a second-order phase transition to a tetragonal structure known as the antiferrodistortive (AFD) phase of STO at the critical temperature Tc = 105 K. The AFD phase of STO can appear Read More

Abstract In nanoparticle image velocimentry (nPIV), evanescent wave illumination is used to measure near-wall velocity fields with an out-of-plane resolution of less than 200nm. Similar methodology can be extended for temperature measurements using Brownian motion characteristics of the sub-micron tracer particles in this region. Temperature change affects Brownian motion of tracer particles through a change in Brownia Read More

Abstract The senses of vision and touch are vital modalities used in the discrimination of objects. Recent advances in human-computer interface technologies have produced various haptic force feedback devices for the industries of rehabilitation, information technology, entertainment, and more. In this research effort, an inexpensive stylus-type haptic device is used to determine thresholds of concave curvature discriminati Read More