PTPN22 gene polymorphism in Takayasu's arteritis

Objective. Takayasu's arteritis (TA) is a chronic, rare granulomatous panarteritis of unknown aetiology involving mainly the aorta and its major branches. In this study, genetic susceptibility to TA has been investigated by screening the functional single nucleotide polymorphism (SNP) of PTPN22 gene encoding the lymphoid-specific protein tyrosine phosphatase. Methods. Totally, 181 patients with TA and 177 healthy controls are genotyped by PCR-RFLP method for the SNP rs2476601 (A/G) of PTPN22 gene. Polymorphic region was amplified by PCR and digested with Xcm I enzyme. Results. Detected frequencies of heterozygous genotype (AG) were 5.1% (9/177) in control group and 3.8% (7/181) in TA group (P = 0.61, odds ratio: 0.75, 95% CI: 0.3, 2.0). No association with angiographic type, vascular involvement or prognosis of TA was observed either. Conclusion. The distribution of PTPN22 polymorphism did not reveal any association with TA in Turkey. © The Author 2008. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved

Product Development in Crowdfunding: Theoretical and Empirical Analysis

Problem definition: Crowdfunding goes beyond raising funds. Entrepreneurs often use crowdfunding to solicit feedback from customers in order to improve their products, and may therefore prefer to launch their crowdfunding campaigns using basic versions of their products with fewer features. However, customers may not be persuaded by a campaign if the product appears to be underdeveloped. In view of this trade-off, a key question for entrepreneurs is how much to develop a product before launching a crowdfunding cam- paign. / Methodology/results: Analyzing a game-theoretical model and testing its predictions empirically, we study: 1) how the development level of a product at campaign launch, measured by the initial number of product features, in uences whether customers will make comments that help entrepreneurs improve the product; 2) whether entrepreneurs continue to improve the product during the campaign; and 3) whether the campaign is successful. We show that, as the number of product features at campaign launch increases, the likelihood that customers will make comments and that the product will be improved during the campaign first increases but then decreases. Furthermore, the likelihood of campaign success first increases but then decreases with the number of product features at campaign launch. Finally, by analyzing the interactions between customer feedback, product improvement, and campaign success, we show that customer feedback motivates entrepreneurs to improve the product during the campaign. Moreover, entrepreneurs should take account of the initial number of features and customer feedback when improving the product, because oth- erwise product improvements can harm campaign success. / Managerial implications: Our study provides practical insights on how entrepreneurs can use crowdfunding to aid product development and improve- ment. Specifically, entrepreneurs should avoid overdeveloping their products before crowdfunding campaigns because, as well as decreasing the chance of campaign success, this could hinder their ability to save devel- opment costs (e.g., market research costs) through involving customers in product development

Yeni bir TSH reseptör aktive edici mutasyon ile ilişkili ailevi hipertiroidi: Beş vaka takdimi

Familial non-autoimmune hyperthyroidism, a rare disorder that results from activating germline mutations in the TSH receptor gene, is inherited in an autosomal dominant fashion and has a variable age at onset. Here, we present a family, five members of which were determined to have non-autoimmune hyperthyroidism. Levels of free T3 and free T4 were high and TSH suppressed in two siblings aged 12 and 16, who were admitted due to failure to gain weight and swollen necks. Thyroid autoantibodies were negative and thyroid ultrasonography demonstrated no nodules. A similar situation was detected in their father and two other siblings, none of whom had remarkable complaints. A novel heterozygous missense mutation (c.1906T>A) in the 10th exon of the TSH receptor gene was found in the affected cases. Treatment with methimazole and propranolol was initiated in all cases. During follow-up, one case underwent total thyroidectomy, and radioactive iodine treatment was administered to another. Gain-of-function germline mutations in the TSH receptor should be considered in cases of hyperthyroidism not associated with autoimmune thyroid disease, and family screening, including asymptomatic individuals, should be done

O vrstama zmija u gorju Zapadni Taurus, Turska

A total of 85 specimens belonging to 14 snake species collected from the Western Taurus Mountain Range were examined in this study. Along with morphological information about the species, the study contains some topographical observations concerning the localities. The collection of material from a number of new localities helped efforts to complete missing information related to the distribution of species in this region. Moreover, the data obtained were compared with those contained in the relevant literature with the purpose of shedding light on the taxonomical status of the species.Obrađeno je ukupno 85 primjeraka odnosno 14 vrsta zmija prikupljenih u gorju Zapadni Taurus. Rad donosi morfološke osobitosti vrsta te neka topografska opažanja lokaliteta. Prikupljeni materijal pomogao je upotpuniti nedostatke u poznavanju rasprostranjenja vrsta koje žive u ovoj regiji. Prikupljeni podaci uspoređeni su s relevantnom literaturom u svrhu produbljivanja znanja o taksonomiji vrsta

Social sciences research in neglected tropical diseases 2: A bibliographic analysis

The official published version of the article can be found at the link below.Background There are strong arguments for social science and interdisciplinary research in the neglected tropical diseases. These diseases represent a rich and dynamic interplay between vector, host, and pathogen which occurs within social, physical and biological contexts. The overwhelming sense, however, is that neglected tropical diseases research is a biomedical endeavour largely excluding the social sciences. The purpose of this review is to provide a baseline for discussing the quantum and nature of the science that is being conducted, and the extent to which the social sciences are a part of that. Methods A bibliographic analysis was conducted of neglected tropical diseases related research papers published over the past 10 years in biomedical and social sciences. The analysis had textual and bibliometric facets, and focussed on chikungunya, dengue, visceral leishmaniasis, and onchocerciasis. Results There is substantial variation in the number of publications associated with each disease. The proportion of the research that is social science based appears remarkably consistent (<4%). A textual analysis, however, reveals a degree of misclassification by the abstracting service where a surprising proportion of the "social sciences" research was pure clinical research. Much of the social sciences research also tends to be "hand maiden" research focused on the implementation of biomedical solutions. Conclusion There is little evidence that scientists pay any attention to the complex social, cultural, biological, and environmental dynamic involved in human pathogenesis. There is little investigator driven social science and a poor presence of interdisciplinary science. The research needs more sophisticated funders and priority setters who are not beguiled by uncritical biomedical promises

Does Deep Tectonic Tremor Occur in the Central‐Eastern Mediterranean Basin?

Tectonic tremor has been observed at the roots of many fault systems around the Pacific rim, including convergent and transform plate boundaries. The extent to which deep tremor signals are prevalent along fault systems elsewhere, including the Mediterranean basin, has not yet been documented in detail. A body of evidence suggests that tremor triggered during the surface waves of teleseismic events may commonly occur where ambient tremor during episodic tremor and slip episodes occur, suggesting triggered tremor provides a useful tool to identify regions with ambient tremor. We perform a systematic search of triggered tremor associated with large teleseismic events between 2010 and 2020 at four major fault systems within the central-eastern Mediterranean basin, namely the Hellenic and Calabrian subduction zones, and the North Anatolian and Kefalonia transform faults. In addition, we search for ambient tremor during a slow slip event in the eastern Sea of Marmara along a secondary branch of the North Anatolian Fault, and two slow slip events beneath western Peloponnese (Hellenic Subduction Zone). We find no unambiguous evidence for deep triggered tremor, nor ambient tremor. The absence of triggered tremor at the Hellenic and Calabrian subduction zones supports an interpretation of less favorable conditions for tremorgenesis in the presence of old and cold slabs. The absence of tremor along the transform faults may be due to an absence of the conditions commonly promoting tremorgenesis in such settings, including high-fluid pressures and low-differential stresses between the down-dip limit of the seismogenic layer and the continental Moho