The frequency of Familial Mediterranean fever gene mutations and genotypes at Kirikkale and comparison with the mean of regional MEFV mutation frequency of Turkey

In this study we have retrospectively analysed the mutation spectrum of the 351 Familial Mediterranean fever patients referred to K?r?kkale University Faculty of Medicine, Department of Medical Genetics Laboratory over a period of 5 years and compared them with Turkey’s mean. We have found 11 different mutations, including rare mutations such as F479L, K695R, M680I(G/A) and 45 different genotypes showing the heterogeneity of MEFV mutations in Central Anatolia. The most three prevalent mutations were M694V (14.8 %), E148Q (7.1 %) and M680I(G/C) (4.1 %) in accordance with the literature. We have also investigated R202Q in our routine molecular diagnosis. Mutation causing R202Q (c.605G > A) change was described as a frequent polymorphism and G allele was found in linkage disequilibrium (LD) with M694V. There are limited number of studies investigating R202Q, some of them implicate that its homozygote state is disease causing. We showed the high frequency of R202Q (23.7 %) with and without M694V in all the groups analysed and its high LD rate with M694V in the diagnosed group. Our study is reflecting the mutational heterogeneity of MEFV and summarize mutational spectrum of Turkey’s geographical regions and overall Turkey.     

Clinical significance of serum leptin level in patients with gastric cancer

Leptin may support the proliferation and hinder the apoptosis of tumor cells. Although leptin expression has been studied in several human tumors, its potential clinical significance remains uncertain in patients with gastric carcinoma. Furthermore, the majority of available findings have been determined from preclinical studies using stomach carcinoma tissue section and, to date, few studies have evaluated the clinical significance of leptin in the serum or plasma of gastric carcinoma patients. In the current study, the serum concentration of soluble leptin was assessed in gastric carcinoma patients, and its contributions to the clinical parameters and prognosis of patients were determined. A total of 63 pathologically confirmed gastric cancer patients and 30 healthy subjects were enrolled in the study and circulating leptin levels in the serum of all subjects were determined by ELISA. The serum leptin concentrations were significantly lower in the gastric cancer patients compared with the healthy control group (P = 0.009). In the gastric cancer patients, the clinical features of patient age, sex, lesion localization, histopathology, pathological grade, stage of disease, and serum tumor markers including lactate dehydrogenase, carcinoembryonic antigen, and carbohydrate antigen 19–9 were not correlated with serum leptin concentration. Furthermore, no association was observed between serum leptin concentration and responsiveness to chemotherapy (P = 0.51), and leptin level had no apparent prognostic role in clinical outcome (P = 0.57). In conclusion, although it was not predictive or prognostic, serum leptin level may be a valuable diagnostic indicator in patients with gastric carcinoma.     

Assessment of the protective and therapeutic effect of melatonin against thioacetamide‐induced acute liver damage

Acute or chronic damage to the liver may occur through alcohol, drugs, viruses, genetic disorders, and toxicity. In this study, we planned to investigate the protective and therapeutic effects of melatonin (Mel) by causing damage to the liver with thioacetamide (TAA). Thirty‐five rats were used. Group I: control group (seven pieces), group II: Mel group (seven pieces) the single dose on the first day of the experiment was 10 mg/kg, group III: TAA (seven pieces) 300 mg/kg with 24‐hour intervals, two doses, group IV: Mel + TAA group (seven pieces) 10 mg/kg single dose Mel was applied 24 hours before TAA application, group V: TAA + Mel group (seven pieces) single dose (24th hour) of 10 mg/kg Mel was administered after TAA (300 mg/kg) two doses. The liver histology was evaluated. Apoptosis, autophagy, and necrosis markers in tissue were determined by immunohistochemistry. Aspartate aminotransferase (AST), alanine aminotransferase (ALT), and alkaline phosphatase (ALP) levels in blood serum samples and transforming growth factor‐β (TGF‐β) and tumor necrosis factor‐α (TNF‐α) levels were determined in liver tissue. TAA affected histologically the classical lobule structure both in cell cords and sinusoids. Caspase‐3, RIP3, and LC3 levels were increased in group III compared with the control group. TAA did not cause a statistically significant change in TNF‐α level but decreased the TGF‐β level significantly. AST and ALT levels were statistically significant in group II and V compared with group I, the ALP level was significant in group IV compared with group II. The results of this study showed that TAA caused significant damage to tissues and increased cell death, Mel was found to have more therapeutic than the protective effect on tissues.     

Oleanane‐Type Glycosides from Tremastelma palaestinum (L.) Janchen

Three new oleanane‐type glycosides, 1 – 3 , were isolated from the whole plant of Tremastelma palaestinum (L.) Janchen, along with eight known triterpene glycosides. The structures of the new compounds were established as 3‐O‐[β‐d‐ glucopyranosyl‐(1→3)‐α‐l‐ rhamnopyranosyl‐(1→3)‐β‐d‐ glucopyranosyl‐(1→3)‐α‐l‐ rhamnopyranosyl‐(1→2)‐α‐l‐ arabinopyranosyl]hederagenin ( 1 ), 3‐O‐[β‐d‐ glucopyranosyl‐(1→3)‐α‐l‐ rhamnopyranosyl‐(1→3)‐β‐d‐ glucopyranosyl‐(1→3)‐α‐l‐ rhamnopyranosyl‐(1→2)‐α‐l‐ arabinopyranosyl]hederagenin 28‐O‐β‐d‐ glucopyranosyl‐(1→6)‐β‐d‐ glucopyranosyl ester ( 2 ), and 3‐O‐[α‐l‐ rhamnopyranosyl‐(1→3)‐β‐d‐ glucopyranosyl‐(1→3)‐α‐l‐ rhamnopyranosyl‐(1→2)‐α‐l‐ arabinopyranosyl]oleanolic acid 28‐O‐β‐d‐ glucopyranosyl‐(1→6)‐β‐d‐ glucopyranosyl ester ( 3 ) by using 1D‐ and 2D‐NMR techniques and mass spectrometry. This is the first report on the phytochemical investigation of a species belonging to Tremastelma genus.     

Estimation of sex from the dimensions of foot, footprints, and shoe

This study intends to determine if the sex of an individual can be identified by foot lengths, shoe lengths, and/or footprints. For this purpose, foot length, foot breadth, and foot heel breadth of 506 subjects, comprising 253 females and 253 males ranging from 17.56 to 82.92 years of age, were taken. In addition, the footprints (length, breadth, and heel breadth) and footwear (length and breadth) of the same subjects were measured. Finally, the shoe size of the subjects was recorded. Univariate and multivariate discriminant function models were developed for sex allocations. Statistical analyses indicated that univariate models correctly assign approximately 67-94% of individuals to their correct sex groups. Among univariate models the most reliable measurement was shoe length. The results of multivariate models were better than those of univariate ones, with an approximately 82-96% correct assignment. The best multivariate model was comprised of four variables: foot length, shoe length, shoe breadth and shoe size. It could be suggested that these discriminant functions can provide useful clues to establish personal identity whenever complete or partial feet, footprints, or footwear are recovered.     

Anthropometric evaluation of the Creches children furniture in Turkey

The dimensions of the living and working space and buildings, the types of material and different riggings should be designed to conform to the users' anthropometric measures. The first requirement to design on ergonomic system is to measure the human being who will work and live in that system. Because of this, anthropometric measures are the most frequently used ergonomic data during the design process. In this research paper, we attempt to organize a new data base of anthropometric data to use in the design of children's equipment and furniture used in crèches. A starting point for research on the proper dimensions of creche furniture is to investigate how the dimensions of furniture reflect the body dimensions and the functional needs of the children using furniture. The anthropometric data of 3, 4 and 5 year-old-children in crèches was used. We report the results of the measurements of 18 anthropometric characteristics of children which constitute a set of basic data for the design of functional spaces and furniture.     

Phosphatidylinositol-3 phosphatase myotubularin-related protein 6 negatively regulates CD4 T cells

Intracellular Ca2+ levels rapidly rise following cross-linking of the T-cell receptor (TCR) and function as a critical intracellular second messenger in T-cell activation. It has been relatively under appreciated that K+ channels play an important role in Ca2+ influx into T lymphocytes by helping to maintain a negative membrane potential which provides an electrochemical gradient to drive Ca2+ influx. Here we show that the Ca2+-activated K+ channel, KCa3.1, which is critical for Ca2+ influx in reactivated naive T cells and central memory T cells, requires phosphatidylinositol-3 phosphatase [PI(3)P] for activation and is inhibited by the PI(3)P phosphatase myotubularin-related protein 6 (MTMR6). Moreover, by inhibiting KCa3.1, MTMR6 functions as a negative regulator of Ca2+ influx and proliferation of reactivated human CD4 T cells. These findings point to a new and unexpected role for PI(3)P and the PI(3)P phosphatase MTMR6 in the regulation of Ca2+ influx in activated CD4 T cells and suggest that MTMR6 plays a critical role in setting a minimum threshold for a stimulus to activate a T cell.     

Evaluation of the mechanical, physical properties and decay resistance of particleboard made from particles impregnated with Pinus brutia bark extractives

The mechanical, physical properties and decay resistances of particleboard made from particles impregnated with Pinus brutia bark extractives were examined. Properties included were modulus of rupture, modulus of elasticity, internal bond, thickness swelling, and weight loss according to European standards. The results showed that particleboards made from particles impregnated with bark extractives had significantly lower mechanical values than those made from unimpregnated particles. Impregnating wood particles with bark extractives improved the decay resistance and thickness swelling of particleboard. Increasing concentration of the extractives decreased the mechanical properties and improved the thickness swelling and decay resistance of the panels. Particleboards made from 1% P. brutia bark extractives met the specifications for modulus of rupture and internal bond strength for general purposes.     

The HSP70 Molecular Chaperone Is Not Beneficial in a Mouse Model of α-synucleinopathy

Background

Aggregation and misfolded α-synuclein is thought to be central in the pathogenesis of Parkinson''s disease (PD). Heat-shock proteins (HSPs) that are involved in refolding and degradation processes could lower the aggregate load of α-synuclein and thus be beneficial in α-synucleinopathies.

Methodology/Principal Findings

We co-overexpressed human A53T point-mutated α-synuclein and human HSP70 in mice, both under the control of Thy1 regulatory sequences. Behavior read-outs showed no beneficial effect of HSP70 expression in mice. In contrast, motor coordination, grip strength and weight were even worse in the α-synucleinopathy model in the presence of HSP70 overexpression. Biochemical analyses revealed no differences in α-synuclein oligomers/aggregates, truncations and phosphorylation levels and α-synuclein localization was unchanged in immunostainings.

Conclusion/Significance

Overexpressing HSP70 in a mouse model of α-synucleinopathy did not lower the toxic load of α-synuclein species and had no beneficial effect on α-synuclein-related motor deficits.