1,015 research outputs found
A PROMOTER POLYMORPHISM IN THE PON1 GENE IS ASSOCIATED WITH ESSENTIAL HYPERTENSION
No full textColak, Ertugrul/0000-0003-3251-1043; Colak, Emine/0000-0002-6293-2909; Cosan, Didem Turgut/0000-0002-8488-6405Objective:
Increased vascular oxidative stress, the main risk factor of cardiovascular diseases, is seen as a role in the pathophysiology of essential hypertension. Genetic factors also play an important role in the formation of hypertension
A NOVEL LOSS-OF-FUNCTION MUTATION IN THE GNS GENE CAUSES SANFILIPPO SYNDROME TYPE D
No full textA novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D: Mucopolysaccharidosis type IIID (MIM 252940) is the least common form of the four subtypes of Sanfilippo syndrome. It is an autosomal recessive lysosomal disorder caused by a deficiency of the N-acetylglucosamine-6-sulphatase (GlcNAc-6S sulphatase, GNS), a hydrolase, which is one of the enzymes involved in heparan sulfate catabolism leading to lysosomal storage. The clinical features of this disorder are progressive neurodegeneration with relatively mild somatic symptoms. Twenty patients have been described in the literature and only seven causative mutations in the GNS gene encoding GlcNAc-6S sulphatase have been reported to date. We present the clinical and molecular results of a newly diagnosed Turkish patient with MPS IIID. We identified the novel homozygous single base pair insertion, c. 1226GinsG, which leads to a frame-shift and a premature truncation of the GNS protein (p.R409Rfs21X). Conclusion: This novel mutation provides further evidence that loss-of-function is the underlying pathophysiological mechanism of this rare phenotype
Organisering av ekonomiskt bistånd – Perspektiv på en integrerad och en specialiserad kommun
No full textAuthor: Merima Colak Title: Organization of financial assistance - Perspective on an integrated and a specialized municipality [translated title] Supervisor: Håkan Johansson Assessor: Staffan Blomberg The purpose of this study was to examine how specialized and integrated social services manage their social assistance. In addition to this the aim was to examine how social workers and officials working within these two forms of organizations experience discretion. Furthermore, a goal of this paper was also to examine if the social workers felt that any of these two organizational forms had any impact on the workload and how that in such case manifested. The study was conducted through a qualitative research method. Six social workers and officials were interviewed for the study. The results from the study demonstrated that the employees in the integrated organization had more general work tasks and that those in the specialized organization had their tasks divided on different units that were more specialized. Findings also showed that employees in each municipality interpret discretion differently. The social workers from the integrated organization interpreted discretion in terms of being able to affect their client’s case. The social workers from the specialized organization, on the other hand, defined discretion as being able to influence their own daily work tasks. Conclusively, the study showed that workload exists in both municipalities and that it was manageable in each of the municipalities, the workload was however higher in the specialized one but it was no burden on the employees in neither the specialized nor the integrated. Key words: Discretion, organizational structure, integrated and specialized organizations, social assistance, workload. Key words: handlingsutrymme, organisationsstruktur, integrerade och specialiserade organisationer, ekonomiskt bistånd, arbetsbelastning
Comparative analysis of on-load tap changing (OLTC) transformer topologies
No full textOld - EWI-ESE-DC&S DC systems & StorageElectrical Power Processin
Mixed-frequency testing of induction machines using inverters
No full textThis work has concentrated on the testing of induction machines to determine their temperature rise at full-load without mechanically coupling to a load machine. The achievements of this work are outlined as follows. 1. Four distinct categories of mixed-frequency test using an inverter have been identified by the author. The simulation results of these tests as well as the conventional 2-supply test have been analysed in detail. 2. Experimental work on mixed-frequency tests has been done on a small (4 kW) squirrel cage induction machine using a voltage source PWM inverter. Two out of the four categories of test suggested have been tested and the temperature rise results were found to be similar to the results of a direct loading test. Further, one of the categories of test proposed has been performed on a 3.3 kW slip-ring induction machine for the conformation of the rotor values. 3. A low current supply mixed-frequency test-rig has been proposed. For this purpose, a resonant bank was connected to the DC link of the inverter in order to maintain the exchange of power between the test machine and the resonant bank instead of between the main supply and the test machine. The resonant bank was then replaced with a special electro-mechanical energy storage unit. The current of the main power supply was then reduced in amplitude. 4. A variable inertia test for full load temperature rise testing of induction machines has been introduced. This test is purely mechanical in nature and does not require any electrical connection of the test machine to any other machine. It has the advantage of drawing very little net power from the supply
First report of Ktariella polyorchis (Monogenea: Calceostomatidae) infection in farmed meagre Argyrosomus regius (Actinopterygii: Sciaenidae), with a review of calceostomatid parasites of wild and cultured fish
No full textThe present investigation reports a monogenean outbreak in broodstock of meagre Argyrosomus regius (Asso, 1801) from a Croatian farm. The parasites were visible by naked eye and were found in large numbers in the oral cavity and over the body surface. Morphological and molecular analyses allowed to identify the parasites as Ktariella polyorchis Vala & Euzet, 1977 (Monogenea: Calceostomatidae), here reported for the first time in farmed A. regius. Calceostomatids are known to parasitize different fish species of the family Sciaenidae worldwide: particularly, K. polyorchis had been described infecting the gills of wild A. regius caught off Tunisia and Egypt. This work provides the first detailed description of the parasite surface by SEM analysis, and the first molecular data (complete ITS and partial 28 S rDNA sequences), useful in future taxonomical and phylogenetic studies. Furthermore, we provide a synthesis of previous records of calceostomatid parasites of wild and cultured fish, highlighting their role as potential emerging parasites in the farming of sciaenid fish worldwide
Effect of sample type, centrifugation and storage conditions on vitamin D concentration
No full textIntroduction: Studies about vitamin D [25(OH)D] stability in plasma are limited and preanalytical variables such as tube type may affect results. We aimed to evaluate effect of storage conditions, sample type and some preanalytical variables on vitamin D concentration.
Materials and methods: Blood samples from 15 healthy subjects were centrifuged at different temperatures and stored under different conditions. Serum and plasma 25(OH)D difference, effect of centrifugation temperature and common storage conditions were investigated.
Results: There was no difference between serum and plasma vitamin D concentration. Centrifugation temperature had no impact on vitamin D concentration. 25(OH)D is stable under common storage conditions: 4 hours at room temperature, 24 hours at 2-8 °C, 7 days at -20 °C, 3 months at -80 °C.
Conclusion: Vitamin D does not require any special storage conditions and refrigeration. Both serum and plasma can be used for measurement
Validation analyses using independently performed microarray and RNAseq datasets.
No full text(A) The PCA and (B) unsupervised hierarchical clustering using our 16 gene set discriminated individuals as DCM and controls in Barth et al.’s [16] microarray data. Samples are in the columns and genes are in the rows (gene symbols are listed on the right). The expression level of each gene across samples is scaled to [−3, 3] interval. The expression levels are depicted using a color scale as shown at the top of the figure. (C) PCA analysis using RNA-Seq dataset for (non-ischemic cardiomyopathy (NICM) (n = 8) and normal controls (n = 8) from Yang et al [26]. (D) Venn diagram representing the genes common to DEGs in our DCM patients (Colak et al[15]) with DEGs in validation datasets from datasets from Yang et al [26] and Liu et al [23] for RNA-Seq data for independent samples from human failing heart.</p
Determination and mapping of cadmium accumulation in plant leaves on the highway roadside, Turkey
No full textThis study investigates cadmium (Cd) accumulation in the plant leaves of juglans regia (walnut) and cydonia oblanga (quince) trees related to traffic emissions on the highway roadside. The plant leaf samples were collected from 20 sites on the D-100 Highway roadside and washed with deionized water before analyzed. Determination of Cd was carried out using an inductively-coupled plasma-mass spectrometer after microwave digestion of the samples. Cd concentration on the plant leaves was found to be between 0.04-0.11 mg/kg. In order to determine the traffi c-based emissions, vehicles were counted and an emission inventory was prepared. 0.18 tons of Cd was found to be delivered into the atmosphere every day. Cd accumulation depends on traffic density because there were no residential area and industrial plants. The distribution of Cd accumulation caused by traffic emissions was mapped by using a geographic information system (GIS). The maps showed that the Cd accumulation was high in the areas near the highway and then gradually decreased by moving away from the highway
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