Qatar Foundation Annual Research Conference Proceedings Volume 2016 Issue 1

Klinefelter Syndrome (KS) was first described 73 years ago. Surprisingly KS yet remains underdiagnosed in the population. Lack of awareness about symptoms and the guidelines of KS diagnosis among paediatricians and General Practitioners (GP) could be the main reason. Failing to perform a thorough physical examination, not considering or unable to get cytogenetic confirmation on suspected patients are causative factors fo Read More

Background Vascular calcification and increased mortality is now well linked in hemodialysis (HD) patients. Among the inhibitors and promoters of calcium-phosphate and bone metabolism, we studied Sclerostin, a glycoprotein mainly expressed by osteocytes, involved in regulating bone formation by inhibiting Wnt–β-catenin signaling. Studies demonstrated, in experimental CDK animal model, a positive association betwee Read More

Introduction Cirrhosis is an abnormal liver condition, mainly caused by viral hepatitis B or C, fatty liver diseases and alcoholism. Ascites is common complication of cirrhosis, associated with poor quality of life, abnormal cognitive functions, increased work disability and increased risk of infection, consequently development of hepatic encephalopathy1. Studies have suggested that inflammation caused by secondary infection with h Read More

Critically ill patients in the intensive care units (ICUs) are often in acutely disturbed state of mind characterized by restlessness, illusions, and nervousness. Such patients, for instance, those who are mechanically ventilated may incur difficulties during treatment procedures such as endotracheal tube intubation/extubation. Apart from critical illness, treatment induced delirium may cause them to dislodge themselves Read More

In order to provide a protective host response to a vast array of invading pathological microorganisms the ability of naïve CD4+T cells to differentiate into discrete effector subsets, each able to mediate specific aspects of immunity is a central tenet of the adaptive immune response. T helper (Th) 1 cells mediate protection against intracellular pathogens, such as bacterial and viral infections, whereas Th2 cells mediate p Read More

Background Melanoma is an aggressive neoplasm characterized by a complex etiology. Several molecular alterations occur during melanoma progression. The most commonly mutated pathway is the mitogen-activated protein kinases (MAPK)/ERK cascade. The activation of the MAPK/ERK signaling occurs either through gain-of-function mutations in BRAF and NRAS gene or through autocrine growth factor stimulation. Docu Read More

Background Monoallelic expression (MAE) is a frequent genomic phenomenon in normal tissues, however its role in cancer is yet to be fully understood. MAE is defined as the expression of a gene that is restricted to one allele in the presence of a diploid heterozygous genome. Constitutive MAE occur for imprinted genes, odorant receptors and random X inactivation. Several studies in normal tissues have showe Read More

Background Obesity related diseases including type 2 diabetes mellitus (T2DM) and non-alcoholic fatty liver disease have become major health problems. Inappropriate insulin production and dyslipidemia are commonly associated with obesity. It is multifactorial and heterogeneous in origin. While 60–80% of obese subjects are insulin resistant (IR) and rapidly develop metabolic diseases, called pathologically obese (PO), a pro Read More

Store-operated calcium entry (SOCE) is a ubiquitous Ca2+ influx pathway essential for many physiological functions and failure to maintain normal calcium homeostasis is one of the leading causes of cellular dysfunction in a wide variety of pathological conditions. Orai1, a key regulator of SOCE, constitutively recycles at steady state in the frog oocyte and internalizes into intracellular vesicular compartments during meiosis, leadin Read More