302 research outputs found

    Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy.

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    Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disorder caused by mutations in TYMP, leading to a deficiency in thymidine phosphorylase and a subsequent systemic accumulation of thymidine and 2'-deoxyuridine. Erythrocyte-encapsulated thymidine phosphorylase (EE-TP) is under clinical development as an enzyme replacement therapy for MNGIE. Bioanalytical methods were developed according to regulatory guidelines for the quantification of thymidine and 2'-deoxyuridine in plasma and urine using liquid chromatography-tandem mass spectrometry (LC-MS/MS) for supporting the pharmacodynamic evaluation of EE-TP. Samples were deproteinized with 5% perchloric acid (v/v) and the supernatants analyzed using a Hypercarb column (30 × 2.1 mm, 3 µm), with mobile phases of 0.1% formic acid in methanol and 0.1% formic acid in deionized water. Detection was conducted using an ion-spray interface running in positive mode. Isotopically labelled thymidine and 2'-deoxyuridine were used as internal standards. Calibration curves for both metabolites showed linearity (r > 0.99) in the concentration ranges of 10-10,000 ng/mL for plasma, and 1-50 µg/mL for urine, with method analytical performances within the acceptable criteria for quality control samples. The plasma method was successfully applied to the diagnosis of two patients with MNGIE and the quantification of plasma metabolites in three patients treated with EE-TP

    Effectiveness of information systems outsourcing: An exploratory case study

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    The objective of this research is to construct an assessment model for measuring the effectiveness of Information Systems (IS) outsourcing. "Lack of expertise" and "cost effectiveness" constitute the major points of motivation for IS outsourcing. Although various decision models and analytical frameworks have been modeled before, the literature is not abundant on a complete qualitative model. In contrast with the decision models which are executed before an outsourcing engagement (a-priori), an effectiveness assessment model will be an a-posteriori guide which will enable the clients to measure their outsourcing performance and re-evaluate their business and management strategies. This paper examines the factors for outsourcing effectiveness through the framework of an exploratory case study for an IS developed by a major Turkish software house for a public organization. © 2012 IADIS

    Invertebrate infestation in green turtle (Chelonia mydas (linnaeus, 1758)) and loggerhead turtle (caretta caretta (Linnaeus, 1758)) nests on Alata beach, Mersin, Turkey

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    Invertebrate infestation in sea turtle nests (Caretta caretta and Chelonia mydas) was recorded for the first time for Alata beach, Mersin, Turkey. A total of 121 green and 32 loggerhead nests were recorded and 34 (22.22%) of these were examined in terms of the invertebrate faunal composition. The specimens found in the nests were identified to order, family, or genus levels and they were represented as 5 orders. These invertebrate groups are Pimelia sp. larvae (Tenebrionidae; Coleoptera), Elater sp. larvae (Elateridae; Coleoptera), Scarabaeidae larvae (Coleoptera), Muscidae (Diptera), Enchytraeidae (Oligochaeta), Myrmeleontidae (Neuroptera), and Cyrptostigmata (Acari). © TÜBİTAK

    Is amygdala size correlated with stress?

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    Background: One of the important mechanisms that regulate the stress response of the body is hypothalamic pituitary adrenal axis. One of the structures activating this axis is amygdala. We have seen people around who react calmer and cooler to very stressful situations. Are people with smaller amygdala really calmer? Or, can we say that the bigger the amygdala, which is the trigger of the body’s response to stress, the more a person panics? Aim of the study is to compare the saliva cortisol levels and amygdala volume.Materials and methods: Study conducted with 63 male students. Magnetic resonance images of students were taken before their final exam to calculate amygdala volumes. Saliva samples of all students were taken two times to detect cortisol levels in saliva. First one was 20 days before the final exam and second one was on the exam day. We assumed that the students were stressful on exam day.Results and Conclusions: No statistically significant correlation was found between saliva cortisol levels and amygdala volume in the study

    Atrioventricular thrombus in a 14-year-old patient: a case report

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    Right atrioventricular thrombus was diagnosed by echocardiography in a 14-year-old boy. Thrombus was reached through the right ventricle to the pulmonary artery and it was caused to tricuspit valve insufficiency. Surgical thrombectomy was performed and, he was treated with oral anticoagulation in postoperative period
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