Qatar Foundation Annual Research Conference Proceedings Volume 2014 Issue 1

Introduction: Depression is associated with cardiovascular diseases. Early detection and intervention for depression among cardiovascular (CV) patients can reduce morbidity and mortality rates. Understanding age and gender differences is necessary to adequately address the complex nature of depression as co-morbidity among Arab CV patients in the Middle East region. Objectives: To evaluate the prevalence of depre Read More

Background: Qatar is facing an epidemic of metabolic diseases such as obesity, and insulin resistant due to the rapid lifestyle and nutrition transition in the last few decades. Previous epidemiological studies have identified high prevalence of the metabolic syndrome (MetS) and obesity among Qataris. However, these studies are limited. Although obesity is an established risk factor for the MetS, studies have identified a s Read More

Periodicity in cellular processes is arguably the most underestimated phenomenon in molecular biology. We previously demonstrated the circadian oscillation of baseline expression in eukaryotic genes showing that cycling is a basic property of all genes and not a function of only a subset (10-15%). We further explore the periodicity of cellular processes in this study by asking the question of whether the circadian cascade of ge Read More

Introduction Heavy menstrual bleeding (HMB) commonly affects 1.5 million women in the UK, thereby prompting 1 in 20 women of reproductive age to seek treatment to improve their quality of life. The NICE guidelines recommend the use of Mirena in treating benign HMB, followed by endometrial destruction, if medical treatments fail to resolve symptoms. Several studies have shown the efficacy and cost-effectiveness Read More

Follicular Dendritic Cell Sarcoma: Cytogenetics and Pathological Findings Abstract Follicular Dendritic Cell Sarcoma (FDCS) is a rare neoplasm with a non-specific and insidious presentation that is further complicated by difficult diagnostic and therapeutic assessment. It has a low to intermediate risk of recurrence or metastasis. Unlike other soft tissue sarcomas, cytogenetic studies are very limited in FDCS. Although no specific ch Read More

A consanguineous family of Pakistani ethnicity with two female siblings (22 and 19 years of age), affected by a autosomal recessive Autism Spectrum Disease, was studied by homozygosity mapping and whole Exome Next Generation Sequencing [NGS] of the two affected siblings and one parent to identify the responsible gene and mutation. The disorder is marked by intellectual disability, speech and motor delay, con Read More

Background and Objectives Childhood Apraxia of Speech (CAS) is a speech disorder characterized by articulation errors, i.e. the replacement of certain phonemes with alternatives. In previous work we proposed a simple method to evaluate the child's speech as correct or incorrect with an overall accuracy of 88.2%. In this work we present an enhanced method that increases the accuracy of the correct/incorrect evaluation Read More

ABSTRACT Background and Purpose: Restoring function in individuals who have severe paralysis of the upper extremity secondary to stroke is challenging. Recent technologies have made it possible to use robotic devices as novel tools for assisting the therapists to provide safe and intensive rehabilitation with repeated motions. However, most of the training robots are types of Continuous Passive Motion (CPM) devic Read More

Levels of overweight and obesity have reached alarming proportions in Qatar and other Gulf nations. In Qatar, the need to establish national strategies for the prevention and treatment of obesity was recognized in the National Health Strategy 2011-2016, which stresses the need for prevention. The treatment and prevention of childhood obesity is largely through lifestyle changes- encouraging health eating and physi Read More

Store-operated calcium entry (SOCE) is a ubiquitous Ca2+ influx pathway essential for many physiological functions. Dysregulation of SOCE causes disruption in Ca2+ homeostasis leading to cellular pathology of several diseases. Orai1, a key regulator of SOCE, constitutively recycles at steady state in the frog oocyte and internalizes into an intracellular vesicular compartments during meiosis, leading to inactivation of SOCE. Pre Read More

Background: Cytokines are important mediators of the inflammatory response in type 1 diabetes (T1D). We have previously observed pro-inflammatory cytokine profiles in children with islet autoimmunity. In the present study we examined the role of cytokine profiles as immunological biomarkers of T1D in a case-control study of 162 children at T1D onset and 164 community controls matched for age, sex and time. The Read More

Background & objectives. The ADAMTS proteinases are a family of secreted, matrix-associated enzymes that have diverse roles in the regulation of tissue organization and vascular homeostasis. Several of the 19 human family members have been identified as having either tumor promoting or suppressing roles. We previously demonstrated that decreased ADAMTS15 expression correlated with a worse clinical outcome in mam Read More

The Tcra/Tcrd locus undergoes V-Dδ-Jδ rearrangement in CD4-CD8- thymocytes to form the TCRδ chain of the γδ TCR and V-Jα rearrangement in CD4+CD8+ thymocytes to form the TCRα chain of the αβ TCR. Most V segments in the locus participate in V-Jα rearrangement, but only a small and partially overlapping subset participates in V-Dδ-Jδ rearrangement. What determines any particular Tcra/Tcrd locus V gene segment as a Read More

Background & Objectives: The environment surrounding an organism can have a direct impact on methylation and trans-generational effects in both mammals [1] and plants [2, 3]. Some epigenetic changes are heritable or somehow passed on to future generations without altering the organism's underlying DNA sequence[4]. The concept of DNA methylation heritability in mammals is emerging, although the mechanism Read More

Background & Objectives: Characterization of the metabolic disruptions that precede the onset of T2D is critical for the screening of high risk individuals and hence the implementation of effective early interventions to prevent/delay the onset of T2D and its complications. Currently available predictors fail to grasp the complex etiology of T2D. Metabolomics profiling opened new horizons for biomarkers discovery; an Read More

Background: Sickle Cell Anaemia (SCA) is a genetically-inherited class of haemoglobinopathies arising due to a point mutation in the nucleotides coding for the sixth amino-acid of the β-haemoglobin. During sickle cell haemoglobin (HbS) synthesis the amino acid "valine" gets incorporated in the growing protein chain at the site of "glutamic acid". At the final stages of protein folding to form the quaternary structure of HbS, th Read More

Atrial fibrillation (AF) is the most common abnormality of cardiac rhythm. There is growing evidence advocating an integrated multi-disciplinary approach to delivery of AF care facilitates which has led to improved care and outcomes and reductions in hospitalizations. In this research program, we have implemented a patient-centered and community-focused AF management program—termed as IMPACT-AF—to provi Read More

Background and objectives-Foodborne illness has been determined to be one of the major limitations to the advancement of world health and with the ease of travel around the world and the increase in trade of food and animal products, the risk has been exacerbated in recent years. It has been proclaimed as one of the high priority issues in the Qatar National Food Security Master Plan. Different estimates of burden of dise Read More

Context There is an increased demand on the thyroid gland during pregnancy that results in lower levels of free thyroid hormone as pregnancy progresses. Thyroid peroxidase (TPO) antibodies, which are the most common cause of hypothyroidism and sub-clinical hypothyroidism, are found in 8-20% of women in the reproductive age group. It is unknown whether women with anti-thyroid antibodies are more prone to develop Read More

Deciphering genomes/proteomes at a personal level will not only help in identifying hereditary predisposing factors but also contribute to designing drugs with higher efficacies at the personal level. However, to arrive at this level of understanding we need to collect data in communities locally and globally. One of the major problems we face to achieve such objectives is volunteer recruitment for sample collection. Non-invasive Read More

Background Dilated Cardiomyopathy (DCM) is a leading cause for heart failure characterized by an enlarged ventricular cavity causing systolic dysfunction. Gene mutations are estimated to be the cause in approximately 30-50% of cases, while modifier genes are thought to influence the clinical outcome. Objectives Using a global and unbiased approach: Next Generation Sequencing (NGS), for one of the largest reported c Read More

Background and objective: Sleep disorders, such as insomnia can seriously affect an individual's performance and even lead to psychological problems. Diagnosis and treatment of sleep disorders require the collection of subjective and objective measures of sleep structure. Subjective measures are currently collected during face-to-face clinical consultations with a medical practitioner. Objective measures, obtained fro Read More

Lara Bou Khzam1, Katherine Hajjar2, Nasrin Mesaeli1 1Weill Cornell Medical College in Qatar, Education City, Doha, Qatar and 2Weill Cornell Medical College New York, USA. Diabetic retinopathy (DR) is a leading cause of legal blindness in working-age individuals resulting in disrupted vascular integrity and pathological retinal angiogenesis in both type I and type II diabetes. Annexin A2 is a regulator of endothelial morp Read More

A consanguineous Saudi Arabian family with two female siblings affected by an autosomal recessive condition resembling Familial Exudative Vitreoretinopathy [FEVR], but also with short stature, bone fragility with thin and wasted appearance was studied by homozygosity mapping and positional candidate gene screening to identify the offending gene and mutation. The gene was mapped to three possible homozygous g Read More

Toxoplasma gondii (Tg), causative agent of the disease toxoplasmosis in humans is an opportunistic pathogen belonging to the phylum Apicomplexa, which includes many medically important pathogens such as Plasmodium. Tg life cycle is characterized by two cysts stages: tissue cysts containing bradyzoites and oocysts. Taken together tissue cysts in contaminated food/water and oocysts shed into the environment Read More