Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.

BACKGROUND: Familial Mediterranean fever (FMF), an autosomal recessive, autoinflammatory disease that is common in Arabs, Jews, Armenians and Turks, is caused by mutations in the MEFV gene, which encodes a protein called pyrin. The disease is characterised by recurrent fever, peritonitis, pleuritis, abdominal pain and arthralgia. OBJECTIVE: Determine the distributions of MEFV mutations and their relationship with clinical manifestations. DESIGN: Retrospective, descriptive. SETTING: Turkish community. SUBJECTS AND METHODS: The study included patients with complaints related to FMF who were admitted to the research hospital of Cumhuriyet University between 2005 and 2017. FMF was diagnosed by physical examination using the Tel-Hashomer criteria. MEFV mutations were detected by reverse hybridization strip assay and pyrosequencing. MAIN OUTCOME MEASURE: The prevalence of specific MEFV gene mutations in a large cohort of Middle Anatolia. SAMPLE SIZE: 10 033 patients admitted, 1223 with confirmed mutations. RESULTS: Of 1684 patients diagnosed by Tel-Hashomer criteria, mutation screening confirmed that 1223 patients (72.6%) had FMF. Male/female ratio of the FMF patients was 1.3:1. One or more FMF mutations were found in 4497 patients (44.8%). 3262 had heterozygous or carrier mutations, 821 had compound heterozygous mutation, 381 had homozygous mutations, and 21 had triple mutations. Sixty-six percent had a family history of the disease and 13.7% of the patients had parental consanguinity. Main symptoms found in the patients were abdominal pain (85.2%), fever (84%), chest pain (30.2%), arthralgia (28.6%), rash or erysipelas-like erythema (8.2%). The most common mutation in this population was M694V (39%) of 5753 alleles. CONCLUSION: M694V was the most frequent mutation in our population (Middle Anatolia, Turkey) and cause severe forms of the disease. Patients with E148Q, V726A and R761H mutations may have milder FMF symptoms. There was a high rate of carriers in our study group. LIMITATIONS: Amyloidosis, an important complication of the disease, needs to be analyzed. CONFLICT OF INTEREST: None.

Serum levels of polyamine synthesis enzymes increase in diabetic patients with breast cancer.

BACKGROUND: In this study, it was aimed to investigate the relationship between diabetes and breast cancer and the detection of enzymes and ornithine levels in polyamine synthesis pathway in diabetes, breast cancer and diabetic breast cancer patients. METHODS: Ornithine, arginine decarboxylase, ornithine decarboxylase and agmatinase levels have been measured in serum of all groups. Ornithine levels were measured spectrophotometrically. Arginine decarboxylase, ornithine decarboxylase and agmatinase levels were determined by ELISA kits. RESULTS: Except for the diabetic group, the levels of enzymes in the polyamine synthesis pathway were increased in all and statistically significant (P < 0.05). The increase in the levels of agmatinase was very important among the enzymes (P < 0.001). CONCLUSIONS: Decreased levels of polyamine synthase enzymes in diabetes mellitus were found to be increased patients with breast cancer. Whether and how diabetes-based breast cancer development relates to increase activity of enzymes responsible for polyamine synthesis requires further mechanistic and prospective monitoring studies in larger patient cohorts.

The Association of Plasminogen Activator Inhibitor Type 1 (PAI-1) Level and PAI-1 4G/5G Gene Polymorphism with the Formation and the Grade of Endometrial Cancer.

Plasminogen activator inhibitor type 1 (PAI-1) is a serine protease inhibitor (Serpine 1), and it inhibits both tissue plasminogen activator and urokinase plasminogen activator which are important in fibrinolysis. We aimed to find whether there is a possible association between PAI-1 level, PAI-1 4G/5G polymorphism, and endometrial cancer. PAI-1 levels in peripheral blood were determined in 82 patients with endometrial carcinoma and 76 female healthy controls using an enzyme-linked immunoassay (ELISA). Then, the genomic DNA was extracted and screened by reverse hybridization procedure (Strip assay) to detect PAI 1 4G/5G polymorphism. The levels of PAI-1 in the patients were higher statistically in comparison to controls (P < 0.001). The distribution of PAI-1 4G/5G polymorphism was quite different between patients and controls (P = 0.008), and 4G allelic frequency was significantly higher in the patients of endometrial cancer than in controls (P = 0.026). We found significant difference between Grade 1 and Grade 2+3 patients in terms of the PAI-1 levels (P = 0.047). There was no association between PAI-1 4G/5G polymorphism and the grades of endometrial cancer (P = 0.993). Our data suggest that the level of PAI-1 and PAI-1 4G/5G gene polymorphism are effective in the formation of endometrial cancer. PAI-1 levels are also associated with the grades of endometrial cancer.

Dose-dependent Medicinal Effects of Thymus haussknechtii Velen Grown Wild in Turkey.

In this study, it was aimed to determine dose-dependent interactions between phenolic contents and antioxidant, antibacterial and antifungal effect mechanisms of the infusions of Thymus haussknechtii Velen, naturally grown in the Eastern Anatolia region of Turkey. Therefore, the infusions of Thymus haussknechtii were tested and the interactions between phenolic contents and antioxidant, antibacterial and antifungal effect mechanisms were determined by way of different antioxidant, antibacterial and antioxidant test systems. The concentrations of Thymus haussknechtii showed strong hydrogen peroxide scavenging activity and free radical scavenging activity [1,1-diphenyl-2-picryl-hydrazil (DPPH) % inhibition]. Also, it was seen that Thymus haussknechtii infusions possessed strong antibacterial and antifungal activity against different gram negative and positive bacteria and fungi. In this study, positive correlations between antioxidant, antibacterial, antifungal potency and the total phenolic content of Thymus haussknechtii were found. When the concentration differences were examined, it was seen that concentrations of 4% had the most strong antioxidant, antibacterial and antifungal activity. As a result, Thymus haussknechtii can be reliable antioxidant, antibacterial antifungal substance at concentrations of 4% when it is used as a supplement to therapeutic regimens and for medicinal purposes.

Identification of longevity, fertility and growth-promoting properties of pomegranate in Caenorhabditis elegans.

BACKGROUND: Pomegranate (Punica granatum L.) is commonly consumed as fresh fruit and fruit juice. It is also used in the production of jam, wine, food coloring agent, and flavor enhancer. OBJECTIVE: The aim of this study was to identify the possible longevity, fertility and growth promoting properties of different ethanolic extract concentrations of pomegranate in Caenorhabditis elegans, which is increasingly popular and has proven to be a very useful experimental model organism for aging studies as well as for testing antioxidants and other compounds for effects on longevity. MATERIALS AND METHODS: In this study, five experimental groups (20, 10, 5, 2.5 and 1.25 mg pomegranate extract/mL and one control group) were used to determine the most effective dose of pomegranate in terms of longevity, fertility and growth parameters. RESULTS: It was seen that, pomegranate extracts up to the concentration of 5 mg/mL, had the potential to promote for the longevity, formation of new generations, fertility of new generations and growth properties of C. elegans although higher concentrations significantly reduced these parameters. CONCLUSION: these findings indicated that pomegranate could be used as a supplement to enhance longevity, fertility and growth rate for the other living organisms and human beings, but the dose should be carefully adjusted to avoid adverse effects.

Life span effects of Hypericum perforatum extracts on Caenorhabditis elegans under heat stress.

BACKGROUND: The beneficial effects of antioxidants in plants are mainly extrapolated from in vitro studies or short-term dietary supplementation studies. Due to cost and duration, relatively little is known about whether dietary antioxidants are beneficial in whole animals' life span or not. MATERIALS AND METHODS: To address this question, under heat stress (35°C), Hypericum perforatum was extracted with petroleum ether and the nematodes Caenorhabditis elegans exposed to three different extract concentrations (1mg/mL, 0.1mg/mL, 0.01mg/mL) of H. perforatum. RESULTS: We report that Hypericum perforatum extracts did not increase life span and slow aging related increase in C. elegans. Moreover, one fraction (1mg/mL) increased declines of C. elegans life span and thermotolerance. CONCLUSION: Given this mounting evidence for life span role of H. perforatum in the presence of heat stress in vivo, the question whether H. perforatum acts as a prooxidant or an antioxidant in vivo under heat stress arises.

Correlation between antioxidant effect mechanisms and polyphenol content of Rosa canina.

Rosa canina L. is a member of Rosaceae family, which is well-known for its high phenolic contents. These compounds are known to possess antioxidant, antimutagenic and anticarcinogenic effects. However, they have yet to pass controlled clinical trials for efficacy, and their potential for prooxidant activity is an understudied field of research. In order to estimate the correlations between phenolic contents and antioxidant/proxidant effect mechanisms, different concentrations of R. canina fruit extracts were examined in this study. R. canina showed antioxidant activities at all concentrations with respect to the reducing power, hydrogen peroxide scavenging activity and superoxide anion radical scavenging (O2(ः-)) activity assays, whereas a negative correlation was observed with the metal ion chelating activity and free radical scavenging activity [1,1-diphenyl-2-picryl-hydrazil (DPPH) % inhibition] assays at higher concentrations with the phenolic content of R. canina. These results suggest that R. canina may act not only as an antioxidant, but also as a prooxidant with the effects depending on its concentrations.

The antioxidant effect of Rosa rugosa.

We examined the effects of Rosa rugosa (Rosa rugosa Thunb) on lipid peroxidation, alanine transaminase (ALT), aspartate transaminase (AST), glutathione and protein oxidation levels in carbon tetrachloride (CCl4) treated male Wistar rats. Two control groups and one treatment group of rats were formed. The control groups were fed a standard diet, while the Rosa rugosa group was fed a standard diet enriched with 6% by weight dried Rosa rugosa fruit powder. After 3 months, a single dose of CCl4 was injected intraperitoneally in the Control II and Rosa rugosa groups (1 ml/kg, as 20% in olive oil) and a similar dose of olive oil was administered i.p. to rats in the Control I group. The rats were sacrificed 2 hours later. Lipid peroxide levels in liver, protein oxidation in liver, glutathione (GSH) levels in liver, and ALT and AST in plasma were measured. The rats in the Rosa rugosa group were found to have significantly lower liver peroxide, protein oxidation, glutathione levels and plasma ALT and AST activities compared with the rats in the CCl4 treated control group. These findings suggest that Rosa rugosa possesses antioxidant activity.