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Celem niniejszej pracy było zbadanie wzajemnych zależności między zawartością magnezu i pochodnych purynowych w kamieniach moczowych. Materiał badań stanowiły złogi usunięte operacyjnie z dróg moczowych 45 pacjentów Oddziału Urologicznego WSZ w Szczecinie oraz samoistnie wydalone przez 3 pacjentów leczonych ambulatoryjnie. Zawartość magnezu w konkrementach oznaczono metodą absorpcji atomowej, fosforu metodą kolorymetryczną a 10 pochodnych purynowych przy zastosowaniu wysoko- sprawnej chromatografii cieczowej (HPLC). Wyniki badań pozwoliły wyodrębnić dwie grupy kamieni moczowych, znacznie różniące się zawartością magnezu i fosforu. Stwierdzono, że zawartość niektórych pochodnych purynowych znamiennie statystycznie różni się w obu grupach kamieni. Na tej podstawie wysunięto wniosek, że oznaczenie zawartości magnezu w kamieniu moczowym umożliwia określenie niektórych cech środowiska moczu w trakcie jego powstawania, co jest niezbędne dla ustalenia patomechanizmu kamicy.
Gilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder characterized by motor and vocal tics. The etiology of the disorder is unknown, although the predominant role of genetic factors has been established. Variants of the BTBD9 gene (rs4714156, rs9296249 and rs9357271) have been reported to be associated with GTS in French Canadian and Chinese Han populations. Therefore, we decided to test the association between GTS and polymorphisms of the BTBD9 gene in Polish patients. Our cohort of GTS cases comprised 162 patients aged 4-54 years (mean age: 19.9±8.7 years; 131 males, 80.9%). The control group consisted of 180 healthy persons aged 14-55 years (mean age: 23.1±2.1 years; 149 males, 82.8%). The rs4714156, rs9296249 and rs9357271 variants of the BTBD9 gene were genotyped. No significant differences were found in minor allele frequencies (MAFs) of the SNPs tested between the two groups. The frequency of MAFs of the genotyped SNPs was lower in GTS patients with Attention Deficit Hyperactivity Disorder (for rs9357271 and rs9296249, P=0.039 and rs4714156, P=0.040) and higher in GTS patients without comorbidities (for rs9357271 and rs9296249 P=0.021 and rs4714156 P=0.025). There was a trend toward an association between the minor allele of the SNPs and mild tics (P=0.089 for rs9357271 and rs9296249, P=0.057 for rs4714156). Despite limitations of the study, including the small number of cases and analyzed SNPs, our results suggest that the examined BTBD9 variants are not associated with GTS risk, but may be associated with comorbidity and tic severity in the Polish population.
 Aim: Active vitamin D (1,25-dihydroxyvitamin D3), PTH, fibroblast growth factor-23 (FGF-23) and Klotho protein are key regulators of phosphate metabolism. Hyperphosphatemia and increased FGF-23 level in patients with end-stage renal disease are associated with increased morbidity and mortality. The relationships among key regulators of phosphate metabolism are still being investigated. FGF-23, the humoral factor involved in phosphate metabolism, is strongly associated with serum phosphorus level. Klotho, a transmembrane protein expressed primarily in renal tubules, functions as an obligatory co-receptor for FGF-23. The soluble form of Klotho, produced by the shedding of the transmembrane protein, is detectable in body fluids. The purpose of the study was to assess if serum soluble alpha-Klotho level was related to phosphate metabolism parameters and residual renal function (RRF) in incident peritoneal dialysis (PD) patients. Methods: Thirty-five clinically stable patients 4 to 6 weeks after the onset of PD were included in the study. For each patient, clinical and laboratory data were reviewed. Serum phosphorus concentration, urinary and peritoneal phosphate clearance, serum FGF-23 and soluble Klotho protein concentrations were determined. Results: Serum soluble alpha-Klotho was strongly negatively correlated with 24-hour diuresis (Rs = -0.55, p = 0.004) and renal phosphate clearance (Rs = -0.40, p = 0.049), but not with RRF. Conclusions: Serum soluble Klotho protein concentration is inversely related to residual diuresis and renal phosphate clearance in incident PD patients.
In this study we evaluated biochemical blood serum parameters and the association of Cyclin-dependent kinase 5 (CDK5) gene polymorphisms with the risk of Alzheimer's disease (AD) in the Polish population. We observed an elevated total cholesterol, low-density lipoproteins (LDL) and homocysteine levels and lower concentrations of high-density lipoproteins (HDL) and vitamin B12 in AD patients. However, the analyzed CDK5 polymorphisms were not associated with the biochemical parameters. Moreover, we found no association between the studied polymorphisms and the risk of AD in the Polish population. The meta-analysis of previously published and current study was performed. In conclusion, our study demonstrated that alteration of cholesterol, LDL, HDL, homocysteine and B12 concentration may be an important factor in pathogenesis of AD.
Alteration of Amyloid Precursor Protein (APP) processing, leading to overproduction of Amyloid beta (Ab), and hyperphosphorylation of Microtubule-Associated Protein (MAP) tau remain in the center of pathomechanism of Alzheimer’s disease (AD). The recent data indicated that oligomeric form of Aβ is responsible for memory impairment in AD. Also deregulation of protein phosphorylation processes plays an important role in AD pathology. Cyclin-Dependent Kinase 5 (CDK5) is responsible for aberrant phosphorylation of both MAP tau and APP. Moreover, CDK5 may also phosphorylate other proteins potentially involved in AD pathogenesis, i.a. Glycogen Synthase Kinase-3b (GSK-3b), NMDAR, p53. The aim of the present study was to analyze the participation of CDK5 in cell death processes occurring in PC12 cells overexpressing APP. As a model, we used cells transfected with human wild-type APP (APPwt) and human APP with Swedish mutation (APPsw). Real-time PCR and Western blotting were used for analysis of expression and phosphorylation of CDK5, CDK5R1, CDK5R2, GSK-3β. Cytotoxicity was evaluated by MTT and LDH tests. To determine the role of CDK5 in AD patients, the association of human CDK5 gene with AD risk was analyzed. Our data demonstrated enhanced cell death and cell cycle disturbances in PC12 cells transfected with APP gene, comparing to control PC12 cells. Real-time PCR analysis indicated increased level of mRNA for CDK5 gene in APPsw cells. Significantly decreased phosphorylation of CDK5 on Tyr15 was observed in APPwt and APPsw cells, what can be responsible for lowering of Cdk5 activity. Moreover, Cdk5-dependent phosphorylation of GSK-3β on Ser9 was also decreased, what can be responsible for GSK-3β activation, hyperphosphorylation of MAP tau and alteration of cell function. Our genetic analysis indicated that there is no association between polymorphism of CDK5 gene and the risk of AD in investigated Polish population (178 healthy controls, 71 EOAD and 204 LOAD cases). Significant differences in serum level of cholesterol, LDL, vitamin B12 and homocysteine between AD patients and healthy controls were found, but there was no association of tested CDK5 genotypes with biochemical parameters. These results indicated the important role of CDK5 - GSK-3β interplay in pathomechanism of AD. This study was supported by MSHE Grant N N401 014635
Aim: Adiponectin and leptin are two adipokines playing important roles in the regulation of body weight, appetite, carbohydrate and lipid metabolism. In patients with chronic kidney disease (CKD) adipokines accumulate in serum due to reduced renal clearance. Since adipokines have pleiotropic actions, the adipokine balance may have an impact on peritoneal membrane transport. The aim of this study was to assess whether serum adiponectin and leptin levels were related to peritoneal transport and residual renal function (RRF) in newly started peritoneal dialysis patients. Methods: 25 clinically stable patients, 4 to 6 weeks after the onset of PD, were included in the study. For each patient clinical and laboratory data were reviewed and standard PET test was performed. Serum adiponectin and leptin concentrations were determined and leptin/adiponectin (L/A) ratio was calculated. Results: Serum adiponectin correlated negatively with weight, BMI and glucose concentration. Serum leptin and L/A ratio correlated positively with BMI. Serum adiponectin correlated positively with dialysate to plasma (D/P) creatinine ratio and ultrafiltration in PET test. Serum leptin level and L/A ratio correlated strongly negatively with peritoneal creatinine clearance. Conclusions: Serum adiponectin concentration is positively associated with baseline solute transport. Leptin concentration and L/A ratio are negatively associated with dialysis adequacy in newly started PD patients.
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