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EN
Starting from the paddlewheel complex copper(II)acetate, the green N-methylimidazole adduct of copper(II)acetate is formed and transformed into the monomeric and dimeric N-methylimidazole adducts of copper(II)acetate [Cu(C4H6N2)2(CH3COO)2]n·xH2O (n = 1,2; x = 0, 6). The formation of the blue dimer or the purple monomer depends on the solvent and the presence or absence of water.
EN
Purpose: Behçet's disease is a multisystem disease characterized by recurrent oral and genital ulcers, relapsing uveitis, mucocutaneous, articular, gastrointestinal, neurologic, and vascular manifestations. Paraoxonase is believed to play an important role in protection of LDL and HDL particles from oxidation, in antioxidant effect against lipid peroxidation on cellular membranes, and in anti-inflammatory process. Lipid peroxidation and free oxygen radicals have been thought to play a role in pathogenesis of BD. The association of paraoxonase gene polymorphisms with Behçet's Disease in a group of Turkish patients with clinical manifestations and healthy controls has been investigated. Patients and Methods: Paraoxonase (PON-1-L55M) gene polymorphism was investigated in 50 Behcet patients and 50 healthy individuals with a PCR/RFLP method. Results: There were significant differences between patients and the control group in allele frequencies of the PON1 L55M polymorphism (p=0.04). Also, when patients were compared with the control group according to clinical manifestations, this statistical significance was getting sharper. Compared with the PON55 L allele, the M allele was associated with greater than 3.5 fold (OR 3.5, 95% CI 1.3-8.9) increased risk of ocular (OR 2.4, 95% CI 1.1-5.3), 2.4 fold joint and 3.1 fold (OR 3.1, 95% CI 1.1-8.4) central nervous system manifestations of BD. Conclusion The PON L55M gene polymorphism seemed to play a role in the pathogenesis of BD.
EN
The polymorphs of nimodipine, Modification I (Mod I), the metastable racemate, and Modification II (Mod II), the stable conglomerate, were evaluated by means of the intrinsic dissolution procedure. For this purpose, a hydro alcoholic solution (ethanol:water, 50:50, v/v) was selected as the dissolution medium, maintained at 37±0.5°C. Different rotation speeds were tested (50, 75 and 100 rpm) and the lower one was chosen for the test validation. Although the sample initially characterized as polymorph Mod I presented higher intrinsic dissolution rates in all the conditions tested, no statistical differences were noticed between the two polymorphs. This result can be attributed to the partial solution-mediated phase transformation from Mod I to Mod II, detected through X-ray powder diffraction and differential scanning calorimetry. Also, reliable intrinsic dissolution rate data were acquired for the polymorph Mod II. The dissolution method was validated, being considered stable, specific, linear, sensible, accurate and precise.
EN
Background: Cystic Fibrosis (CF) is a common genetic disease caused by mutations in the gene encoding for the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) protein. It is known that modifier genes and environmental factors play a key role in determining the severity of the disease. Methods: We analyzed Single Nucleotide Polymorphisms (SNPs) in three genes, namely TNFA, TGFB1 and ADRB2, as potential modifiers of CF lung phenotype: c.−851C>T, c.−308G>A, c.−238G>A and c.+691G ins/del SNPs in TNFA, p.Leu10Pro (c.869C>T) and p.Arg25Pro (c.915G>C) SNPs in TGFB1 and p.Arg16Gly (c.46G>A), p.Gln27Glu (c.79C>G) and p.Thr164Ile (c.491C>T) in ADRB2. Results: For the c.46G>A SNP of ADRB2 the A allele (Arg16), as well as the AA genotype, were significantly more frequent in CF patients than healthy controls. When stratifying CF patients according to FEV1 (Forced Expiratory Volume in 1 second) phenotype we observed a statistically significant difference (p=0.02) in the allelic and genotype frequencies. The A allele and A/A genotype were more frequent in mild CF patients when compared to severe CF subjects and thus probably associate with a protective effect toward the development of severe pulmonary manifestation in CF patients. Conclusions: Our results are indicative of the involvement of the ADRB2 gene as modifier gene in Cystic Fibrosis pulmonary phenotype.
Open Medicine
|
2009
|
vol. 4
|
issue 4
450-453
EN
Tamoxifen is widely used in the treatment of breast cancer and associated with an increased risk of thromboembolism (TE). An elevated homocysteine is one of the risk factors for TE. The aim of the study was to assess the effect of tamoxifen on serum homocysteine levels in breast cancer patients. We performed a case-control study in 20 female subjects to evaluate the relationship between homocysteine levels, and 5,10-methylenetetrahyrofolate reductase (MTHFR) C677T and dihydrofolate reductase (DHFR) 19-bp intron-1 deletion polymorphisms in breast cancer patients and in control subjects. It was observed that homocysteine levels were decreased during tamoxifen therapy, but this finding was not statistically significant. There was also no statistically significant difference in homocysteine levels between the two groups (p> 0.05). MTHFR C677T and DHFR 19-bp deletion polymorphisms were not associated with serum homocysteine value in either group.
EN
The hypothalamic-pituitary-adrenal (HPA) axis overactivity is thought to contribute to increased vulnerability to maternal stress. We hypothesize that functionally relevant polymorphic variants of the glucocorticoid (NR3C1) and mineralocorticoid (NR3C2) receptor genes mediating biological effects of cortisol, a major stress hormone, could also modulate the capacity to cope with pregnancy-related anxiety. Genomic DNA from the blood of 42 women with pregnancy-related anxiety and 42 age-matched women with normal pregnancy (5–6th months of gestation) were genotyped for markers rs6195 and rs10482605 of NR3C1 and two NR3C2 polymorphisms (rs5522 and rs2070951) using a Taqman allele discrimination assay. Serum total cortisol was measured using an ELISA technique. The allele Ser363 of rs6195 (the N363S polymorphism of NR3C1) was found to be associated with a higher risk of maternal stress (odds ratio (OR)=5.27; P=0.001). For NR3C2, the allele Val180 of rs5522 (I180V) also showed association with increased risk of neonatal stress (OR=1.97; P=0.038). Both predisposing gene variants were also associated with significantly elevated levels of cortisol in normally pregnant women and females with pregnancy-related anxiety. Our results suggest that pregnancy-related anxiety can be modulated by variants of NR3C1 and NR3C2 associated with increased basal cortisol levels. Thus, our findings provide evidence in support of the suggestion that elevated cortisol levels and HPA axis hyperactivity are implicated in pregnancy-related anxiety.
EN
Introduction: Colorectal cancer is the second most common cancer worldwide. DNA double strand breaks (DSBs) are the most dangerous lesions which can lead to carcinogenesis. Nonhomologous end joining (NHEJ) is an important pathway, that allows for recovering DNA by direct end joining. The XRCC6 and LIG4 genes encode respectively Ku70 protein and human ATP-dependent DNA ligase, which are the components of the NHEJ repair pathway. The aim of our study was to evaluate the influence of XRCC6 C1310G and LIG4 T9I genes polymorphisms on colorectal cancer risk among Polish population. Materials and method: Genotyping was performed using TaqMan probes based on analysis of PCR products amplified in Real Time PCR. The research has been carried out on the material obtained from 100 patients with colorectal cancer and 100 cancer-free individuals who were age and sex-matched as a control group. The results were developed using the chi – squer test and odds ratio (OR). Results: Odd ratio analysis indicates reduced risk of colorectal cancer for LIG4 T9I polymorphism in heterozygotus model C/T (OR= 0.2717 95% CI= 0.1247-0,5918) and homozygous model T/T (OR= 0.3593 95% CI= 0.1394-0.9266). Similar situation we observed for XRCC6 C1310G gene polymorphism, which indicated on heterozygotus variant C/G (OR= 0.1181 95% CI= 0.0145-0.964) and homozygotus variant G/G (OR= 0.0972 95% CI= 0.0097-0.9713) to decrease the risk of colorectal cancer. Conslusions: Our research revealed XRCC6 C1310G and LIG4 T9I polymorphisms are associated with diminished risk of colorectal cancer. However, to confirm obtained results, a further investigations should be carried out.
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