Qatar Foundation Annual Research Forum Volume 2010 Issue 1

Abstract Psoriasis is a chronic inflammatory skin disease posing a considerable world-wide health problem due to its high prevalence, associated morbidity and high health-care costs. It is a multifactorial “complex” disorder, with compelling evidence for a genetic predisposition. Majeed syndrome is a Mendelian disorder with a consistent phenotype and its causative gene can be examined for its role in the more common Read More

Abstract Evidence in healthy sleepers suggests the glycemic index (GI) can mediate changes in sleep onset latency, given the availability of tryptophan to the brain (i.e. TRP/LNAA ratio) is increased after high GI carbohydrate-only food. However, these meals have limited clinical application given the high glycemic load (GL) and insulin responses. Therefore, we investigated the efficacy of a mixed macronutrient hi Read More

Abstract Background: Men who have sex with men (MSM) in the Middle East and North Africa (MENA) forms a highly hidden population, and there are widely held perceptions of virtually nonexistent data on MSM and HIV in this region. Our objective was to delineate, for the first time, the evidence on the epidemiology of HIV among MSM in MENA. Methods: This was a systematic review of all biological, behavioral, and cont Read More

Abstract Smell is an essential sense that allows animals to find food and mates while avoiding predators. In humans smell is considered an aesthetic sensory modality, but olfactory disorders may presage neurological disease including Parkinson's, Alzheimer's, and schizophrenia. The odorant receptors (ORs) comprise the largest gene family in mammals and endow an animal with the ability to smell. Critical to the development Read More

Abstract Autoinflammatory diseases are a group of disorders characterized by seemingly unprovoked inflammation in the absence of high-titer autoantibodies or antigen-specific T cells. They include familial Mediterranean fever; the tumor necrosis factor receptor–associated periodic syndrome; the hyper-IgD syndrome; a syndrome of pyogenic arthritis, pyoderma gangrenosum and acne; the cryopyrin-associated peri Read More

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