Home About us Contact | |||
Examined Groups (examined + groups)
Selected AbstractsCodon 129 polymorphism and the E200K mutation do not affect the cellular prion protein isoform composition in the cerebrospinal fluid from patients with Creutzfeldt,Jakob diseaseEUROPEAN JOURNAL OF NEUROSCIENCE, Issue 11 2010Matthias Schmitz Abstract The cellular prion protein (PrPc) is a multifunctional, highly conserved and ubiquitously expressed protein. It undergoes a number of modifications during its post-translational processing, resulting in different PrPc glycoforms and truncated PrPc fragments. Limited data are available in humans on the expression and cleavage of PrPc. In this study we investigated the PrPc isoform composition in the cerebrospinal fluid from patients with different human prion diseases. The first group of patients was affected by sporadic Creutzfeldt,Jakob disease exhibiting different PrP codon 129 genotypes. The second group contained patients with a genetic form of Creutzfeldt,Jakob disease (E200K). The third group consisted of patients with fatal familial insomnia and the last group comprised cases with the Gerstmann,Sträussler,Scheinker syndrome. We examined whether the PrP codon 129 polymorphism in sporadic Creutzfeldt,Jakob disease as well as the type of prion disease in human patients has an impact on the glycosylation and processing of PrPc. Immunoblotting analyses using different monoclonal PrPc antibodies directed against various epitopes of PrPc revealed, for all examined groups of patients, a consistent predominance of the glycosylated PrPc isoforms as compared with the unglycosylated form. In addition, the antibody SAF70 recognized a variety of PrPc fragments with sizes of 21, 18, 13 and 12 kDa. Our findings indicate that the polymorphisms at PrP codon 129, the E200K mutation at codon 200 or the examined types of human transmissible spongiform encephalopathies do not exert a measurable effect on the glycosylation and processing of PrPc in human prion diseases. [source] Melatonin improves oxidative stress parameters measured in the blood of elderly type 2 diabetic patientsJOURNAL OF PINEAL RESEARCH, Issue 3 2009Kornelia K, dziora-Kornatowska Abstract:, An elevated oxidative status in the aging organism may be involved in the development of non-insulin dependent diabetes mellitus (NIDDM). Melatonin, a potent antioxidant agent, is essential for glucose homeostasis and regulation. The aim of this study was to determine the influence of melatonin supplementation on the oxidative stress parameters in elderly NIDDM patients. The malondialdehyde (MDA) concentration, Cu-Zn superoxide dismutase (SOD-1) activity in erythrocytes, the level of nitrate/nitrite in plasma and morning melatonin concentration and oxidase activity of ceruloplasmin (Cp) in serum in 15 elderly NIDDM patients at baseline and after the 30 days of melatonin supplementation (5 mg daily) in comparison with levels in 15 healthy elderly volunteers were determined. A significant increase of MDA level and decrease of SOD-1 activity and melatonin concentration were observed in NIDDM patients. Cp oxidase activity and nitrate/nitrite level were similar in both examined groups. Melatonin administration in NIDDM patients resulted in a significant increase in the morning melatonin concentration and SOD-1 activity, and a reduction in the MDA level and Cp oxidase activity. Statistically significant alterations in nitrate/nitrite levels were not observed. These results indicate an improvement of antioxidative defense after melatonin supplementation in the NIDDM individuals and suggest melatonin supplementation as an additional treatment for the control of diabetic complications. [source] Nucleotide sequence polymorphisms of beta1-, beta2-, and beta3-adrenergic receptor genes on Jinhua, Meishan, Duroc and Landrace pigsANIMAL SCIENCE JOURNAL, Issue 6 2008Koichi CHIKUNI ABSTRACT The full amino acid coding sequences of adrenergic receptor genes beta1, beta2, and beta3 (ADRB1, ADRB2, and ADRB3)were determined for Jinhua, Meishan, Duroc and Landrace pigs. Non-synonymous substitution of Arg458Pro was found in the porcine ADRB1 gene, resulting in a 469 amino acid sequence. Continuous substitutions of Asn29Asp and Glu30Gln were found in the porcine ADRB2 gene, resulting in a 418 amino acid sequence. Additionally, a Lys30 polymorphism of the ADRB2 gene was found in the Jinhua pigs. There were three non-synonymous substitutions of Asn24Thr, Arg264Gln and Asn398Asp on the porcine ADRB3 gene. A thymine insertion in the ADRB3 gene, resulting in a protein with two fewer amino acids, was found in the Jinhua and Meishan pigs. To assess the effect of ADRB polymorphisms on porcine subcutaneous fat layer thickness, we calculated the genetic frequency of the variants in fatty and lean groups, each consisting of 24 pigs that were crossbreds of Duroc and Jinhua pigs. The effect of the ADRB3 gene polymorphism was not evaluated, because there was insufficient variation on the ADRB3 gene in the examined groups. Although Fisher's exact test showed no significant difference in the frequency of ADRB1 and ADBR2 variants between the two groups, the Arg458 variant of ADRB1 was higher (P = 0.11) in the lean group, and pigs in that group had a thinner fat layer than did those with the Pro458 variant. These results imply a possibility of ADRB1 polymorphism as a minor factor in porcine fat layer thickness. The Asp29 variant of ADRB2 was higher in the lean group (P = 0.11), and the Glu30 variant was higher in the fatty group (P = 0.15), but the Asp29 variant was found only in the Chinese pigs. Thus, the effect of ADRB2 polymorphisms was not clear in this study. [source] The effect of diet on total antioxidant status, ceruloplasmin, transferrin and ferritin serum levels in phenylketonuric childrenACTA PAEDIATRICA, Issue 10 2010Kleopatra H Schulpis Abstract Objectives:, To investigate the effect of diet on total antioxidative status (TAS), transferrin, ferritin and ceruloplasmin serum levels in phenylketonuric (PKU) children. Patients and methods:, Seventeen poorly controlled PKU children underwent clinical and laboratory examinations before, ,off diet', and 60 days after adhering to their special diet ,on diet', whereas controls (N = 24) were examined once. Blood chemistry was performed with the appropriate methodologies. Results:, Phenylalanine levels differed significantly among the examined groups. Lipids and lipoproteins were higher in ,off diet' than in ,on diet' group, except of high density lipoprotein and apolipoprotein AI that remained unaffected. Total antioxidative status (386 ± 30 vs 204 ± 23 ,mol/L, p < 0.001), ferritin (48.2 ± 2.3 vs 33.0 ± 2.8 ,g/L, p < 0.001) and ceruloplasmin (40.02 ± 2.5 vs 25.5 ± 2.8 mg/dL, p < 0.001) levels were significantly higher in ,on diet' patients' group compared to ,off diet' one. The low lipoprotein and the high TAS and ferritin levels in patients with PKU ,on diet' may be related to the vegetarian diet and the rich in iron formula supplementation. Conclusions:, The low ferritin levels found in ,off diet' patients with PKU may be attributed to a decreased liver production of ceruloplasmin, which evaluation may be a useful tool for the follow-up of patients with PKU. [source] Assessment of left ventricular systolic function using tissue Doppler imaging in children after successful repair of aortic coarctationCLINICAL PHYSIOLOGY AND FUNCTIONAL IMAGING, Issue 1 2010Tomasz Florianczyk Summary Aim:, Assessment of left ventricular systolic function in children after the successful repair of aortic coarctation using tissue Doppler imaging (TDI). Methods:, The study group consisted of 32 patients (mean age 12·0 ± 4·2 years) after the aortic coarctation repair. The TDI parameters and the conventional echocardiographic endocardial and midwall indices of the left ventricular systolic function were analysed and compared with the results obtained from 34 healthy children. Results:, The systolic mitral annulus motion velocity, systolic myocardial velocity of the medial segment of the left ventricular septal wall, left ventricular strain and Strain Rate (SR) in the study group were significantly higher than in the control group, respectively: 6·92 ± 0·75 cm s,1 versus 6·45 ± 0·83 cm s,1; 5·82 ± 1·03 cm s,1 versus 5·08 ± 1·11 cm s,1; ,28·67 ± 6·04% versus ,22·53 ± 6·44% and ,3·20 ± 0·76 s,1 versus ,2·39 ± 0·49 s,1. Except midwall shortening fraction the conventional endocardial and midwall echocardiographic indices in the study group were significantly higher in comparison to the healthy controls. The left ventricular systolic meridional fibre stress and end-systolic circumferential wall stress did not differ between the examined groups. There were no differences of the TDI or conventional parameters between hypertensive and normotensive patients. Conclusions:, Left ventricular systolic performance in children after the surgical repair of aortic coarctation reveals tendency to rise in late follow-up despite a satisfactory result after surgery. Higher systolic strain and SR in children treated due to coarctation of the aorta may suggest the increased preserved left ventricular performance despite normalization of afterload. [source] |