Gaucher Disease (GD) is the most common type of Lysosomal Storage Disorder and it is divided into three distinct subtypes. The authors here report four different cases of Gaucher Disease, with varying clinical manifestations, and the diagnosis of each established by the low level of Beta-Glucosidase enzyme as well as genetic DNA testing. The study also highlights the importance of early diagnos...

results hla-drb1*07 (rr 5.3, p = 0.0008) and hla-drb1*08 (rr n.c. p = 0.0005) were significantly associated with the risk of pbc development. patients younger than 45 years had significantly higher alanine aminotransferase (p = 0.038) and alkaline phosphatase levels (p = 0.047) than older cases. in comparison to non-cc rs12979860, patients with cc rs12979860 genotype showed an early histologica...

Objective(s): Arachidonic Acid/5-lipoxygenase (AA/5-LOX) pathway connects lipid metabolism and proinflammatory cytokine, which are both related to the development and progression of nonalcoholic fatty liver disease (NAFLD). Therefore, the present study was designed to investigate the role of AA/5-LOX pathway in progression of NAFLD, and the effect of zileuton, an inhibitor of 5-LOX, in this mod...

W hether we like it or not, nephrologists around the world have been called to action. Our mission is to attenuate the growth of chronic kidney disease (CKD). Several conditions will need to gel for us to succeed. Although we now have a better understanding of its alarming incidence and prevalence within populations, however we choose to define it, better methods are needed to identify at risk ...

Membrane/protein trafficking in the secretory/biosynthetic and endocytic pathways is mediated by vesicles. Vesicle trafficking in eukaryotes is regulated by a class of small monomeric GTPases: the Rab protein family. Rab proteins represent the largest branch of the Ras superfamily GTPases, and have been concerned in a variety of intracellular vesicle trafficking and different intracellular sign...

to determine the prognostic value of response to treatment in patients with focal segmental glomerulo-sclerosis. fsgs includes 10-15% of idiopathic nephrotic syndrome in children. bulk of evidence supports disease relationship with immune system. unfortunately, responses to immunosuppressive drugs are not desirable and progression to end-stage renal disease is common. we analyzed 62 out of 99 c...

The incidence and prevalence of diabetes mellitus (DM) have significantly increased worldwide. Consequently, the prevalence of coronary heart disease (CHD) and chronic kidney disease (CKD) have been increased significantly, as they are highly associated with DM. The present report derives the determinants of the DM disease progression, based on ten baseline covariates (such as sex, age, average...