Qatar Foundation Annual Research Forum Volume 2011 Issue 1

Abstract Background: X-linked diseases are single gene disorders that are due to the presence of mutations in genes that reside on the X chromosome. X-linked recessive disorders are predicted from the family structure, where only boys are affected and there is no father to son transmission of the mutant allele. Heterozygous females are usually non-symptomatic carriers but can manifest a milder form of the dis Read More

Abstract Background: Autosomal recessive diseases are considered as a major group of single-gene disorders among Arab population. We have recruited a family with three siblings with a mental retardation (MR) syndrome who were born to consanguineous Qatari parents. The clinical problems comprised significant mental retardation, microsomia, signs of skeletal dysplasia, and thoracolumbar kyphosis. The oldest pati Read More

Abstract Prevalence rate of autism-spectrum disorders (ASD) in Qatar is uncertain, and speculation that their incidence is increasing continues to cause concern. Although the apparent increased prevalence of autism may reflect improved detection and recognition of autism and its variants. No comprehensive survey has been done to estimate the prevalence of autism in Qatar. The target population for this study is children Read More

Abstract Background: The number of genes identified to be responsible for autosomal dominant genetic conditions far exceeds those identified for autosomal recessive conditions. This is expected because autosomal recessive disorders are rare and a single large family or a large number of smaller families are needed for gene mapping and identification. However, this hurdle can be overcome by homozygosity mapping utilizi Read More

Abstract In Qatar, cardiovascular diseases are the leading cause of mortality and morbidity. Cardiovascular diseases can be prevented and controlled by modifying lifestyle risk behaviours such as physical inactivity, unhealthy diet and smoking. Obesity as the result of physical inactivity and unhealthy diet raises the risk of heart diseases. Studies show that 62.6% of Qatari women were overweight and the prevalence of o Read More

Abstract Background: Genetic and environmental factors are highly related with gestational diabetes mellitus (GDM) and type 2 diabetes (T2D). Our objective was to explore whether some genetic variants such as rs12255372, rs7903146 of TCF7L2 gene are significantly associated with the risk of gestational diabetes mellitus among Arabian population. Methods: A case control study was designed for such genetic association study. Read More

Abstract Background: Caring for a child diagnosed with autism is strongly linked to maternal caregiving burden. It forces family members to modify their daily lives to suit their different reality and it imposes social, psychological, and economical hardships. No previous research has assessed the burden associated with caring for a child with autism on the lives of caregivers in Qatar or the Gulf country region. Objective: To assess t Read More

Abstract Background: Pineal hormone melatonin (MEL) is a versatile molecule with diverse physiological roles ranging from circadian entrainment to anti-cancer effects. Clinical trials indicated that a co-application of cisplatin and melatonin improved the 1-year survival rate. Also, Futugami (2001) claimed melatonin enhances the sensitivity of an ovarian cancer cell line to cisplatin. Objective: Here we study the anti-cancer eff Read More

Abstract This study was carried out to examine the difference between the respiratory volumes in athlete and non-athlete adolescent females, how does exercise affect the respiratory volumes and how could the effects of exercise on the respiratory system affect the heart rate? Introduction: The respiratory and circulatory systems are the most important systems in the body as they involve vital organs (lungs and heart). They Read More

Abstract The coagulation/fibrinolytic system controls the intravascular fibrin homeostasis; in addition to participating in a wide variety of physio-pathological processes. The components of the system have an influence on tumor metastasis, growth and invasion. This is a result of their involvement in tumor matrix construction, angiogenesis and cell migration. Thrombosis of unexplained etiology among healthy and canc Read More