Fabry disease - a genetically conditioned extremely rare disease with a very unusual course.

Fabry disease (FD) is a rare lysosomal storage disease. FD is caused by the presence of a deleterious mutation in the GLA gene encoding the enzyme alpha galactosidase A (αGAL A) on the X chromosome. The accumulation of Gb3 and lyso-GL-3 in nerve fiber cells, endothelium, vascular muscle cells, mesangial cells, podocytes, renal tubular epithelial cells and cardiomyocytes is the most important pathogenetic factor.

Association between Selected Polymorphisms rs12086634, rs846910, rs4844880, rs3753519 of 11β-Hydroxysteroid Dehydrogenase Type 1 () and the Presence of Insulin Resistance in the Polish Population of People Living in Upper Silesia.

Background: Many factors influence the development of insulin resistance, among other genetic factors. Cortisol is one of the factors that has a significant impact on the development of insulin resistance. The proteins that have a substantial effect on blood cortisol levels include 11β-hydroxysteroid dehydrogenase type 1.

DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk.

Unlabelled: AIM, DIAPH2, PTPRD and HIC1 are the cell glycoprotein, which play an important role in the occurrence and development of tumors. This study was designed to assess the association between DIAPH2, PTPRD and HIC1 SNPs and laryngeal cancer risk.

Patients And Methods: This study including 267 patients with histologically confirmed laryngeal cancer and 157 controls.

Association of Gene Polymorphisms with Fractalkine, Fractalkine Receptor, and C-Reactive Protein Levels in Patients with Kidney Failure.

Fractalkine () is a chemokine that plays a significant role in inflammation, one of the pathophysiological processes underlying end-stage renal disease (ESRD). Genetic factors are significantly involved in cytokine expression and have been studied as potential risk factors for chronic kidney disease (CKD). : We aimed to elucidate the association of gene polymorphisms rs3732378 and rs3732379 with the levels of , receptor (), as well as C-reactive protein (CRP).

Uremic pruritus and serum brain-derived neurotrophic factor in diabetic and non-diabetic haemodialysis patients.

Introduction: Even though uremic pruritus (UP) is very troublesome for haemodialysis (HD) patients, its underlying mechanism is not fully understood.

Aim: Due to the possible role of brain-derived neurotrophic factor (BDNF) and its higher serum concentration in haemodialysis diabetic patients compared to non-diabetic ones, this study is aimed to evaluate its association with UP among diabetic and non-diabetic patients on maintenance HD.

Material And Methods: A total of 94 patients were enrolled into the study.

Whether Prolyl Hydroxylase Blocker-Roxadustat-In the Treatment of Anemia in Patients with Chronic Kidney Disease Is the Future?

In patients with chronic kidney disease (CKD), anemia develops gradually, which is primarily due to an inadequate synthesis of erythropoietin by the kidneys, as well as to iron disorders in the body, blood loss, shortened erythrocyte survival and inflammation. The currently accepted treatment employs iron, vitamin B12, folic acid supplementation and the use of erythropoiesis stimulants, which are administered only parenterally. Research is currently underway on the new erythropoiesis drugs that can be orally administered, i.

Prevalence of high on-treatment platelet reactivity in patients with chronic kidney disease treated with acetylsalicylic acid for stroke prevention.

Introduction Chronic kidney disease (CKD) is one of risk factors for stroke and may be associated with impaired platelet reactivity. Objectives The aim of the study was to evaluate platelet reactivity in patients with CKD treated with acetylsalicylic acid (ASA), using 2 different laboratory methods. Moreover, we searched for factors responsible for the phenomenon of high on-treatment platelet reactivity (HOPR).

[high on-treatment platelet reactivity in patients with chronic renal failure using acetylsalicylic acid].

Cardiovascular diseases (CVD) are the most common cause of mortality in the world. Acetylsalicylic acid (ASA) is a widely used medicine in primary and secondary prevention of cardiovascular diseases. About 1-60% patients taking aspirin have high platelet reactivity (HOPR) despite aspirin treatment.

Association of rs 3807337 polymorphism of CALD1 gene with diabetic nephropathy occurrence in type 1 diabetes - preliminary results of a family-based study.

Introduction: The worldwide growing burden of diabetes and end-stage renal disease due to diabetic nephropathy has become the reason for research looking for a single marker of chronic kidney disease development and progression that can be found in the early stages of the disease, when preventive action delaying the destructive process could be performed. The aim of the study was to investigate the influence of rs3807337 polymorphism of the caldesmon 1 (CALD1) gene located on the long arm of chromosome 7 encoding for protein that is connected with physiological kidney function on development of diabetic nephropathy.

Material And Methods: There was an association study of rs3807337 polymorphism of the CALD1 gene in parent-offspring trios by PCRRFLP method.

Substance P and intensity of pruritus in hemodialysis and peritoneal dialysis patients.

Background: Uremic pruritus is a common complication in patients undergoing dialysis. The pathophysiological mechanisms of pruritus in patients with end-stage renal disease remain unknown. Neuropeptides, including substance P, are postulated to play an important role in the pathogenesis of pruritus.