304 research outputs found
An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity
No full textKabuki syndrome (KS) is a rare developmental disorder characterized by multiple congenital malformations, postnatal growth retardation, intellectual disability, and recognizable facial features. It is mainly caused by mutations in either KMT2D or KDM6A. We describe a 14-year-old boy with KS presenting with an unusual combination of bilateral microphthalmia with orbital cystic venous lymphatic malformation and neonatal cholestasis with bile duct paucity, in addition to the typical clinical features of KS. We identified the novel KMT2D mutation c.10588delC, p.(Glu3530Serfs*128) by Mendeliome (Illumina TruSight One (R)) sequencing, a next generation sequencing panel targeting 4,813 genes linked to human genetic disease. We analyzed the Mendeliome data for additional mutations which might explain the exceptional clinical presentation of our patient but did not find any, leading us to suspect that the above named symptoms might be part of the KMT2D-associated spectrum of anomalies. We thus extend the range of KS-associated malformations and propose a hypothetical connection between KMT2D and Notch signaling. (C) 2016 Wiley Periodicals, Inc
Participatory policy-making, participatory civil society: A key for dissolving elite rule in new democracies in the era of globalization
No full textKorkut, Umut (Dogus Author)The author argues that in democracies a strong state and strong civil society are not mutually exclusive. Only a democratic, legitimate, and strong state can provide the environment for civil society activities to flourish; in return, only a strong and a participatory civil society can outline the reach of state strength vis-`a-vis the society. The author discusses the need for civil society organizations to collaborate with policy-making institutions, in which they can negotiate policy concerns with ministers and officials while retaining an independent distance from the state and the political parties. Further, the author argues that an environment as such would provide for the transformative capacity of human agency to manifest itself in full in a globalizing world. The author discusses how participatory state and çivil society structures will enhance the role of the human agency in order to dissolve elite rule, especially in new democracies
: An Inquiry into a Non-Dualistic Duality of Human and Nonhuman
No full textIn-Habitant is an art and life project based on artist Umut Tasa’s decade-long encounters with urban wildlife. It is a quest to utilize art as a research method to contemplate her memories, nature discoveries, audiovisual records, and archive of haiku and prose through a body of artworks. These artworks bring together the corporeality of nonhumans with their digital re-presentation and literary text with creative coding. The author inquires into dualistic and nondualistic ontological approaches to human-nonhuman relations in urban settings
Türkçe Dergilerde Yayımlanan Makaleler Üzerine Bir İnceleme
No full textThere are currently more than 2,000 journals published in Turkey. Yet studies dealing with articles published in Turkish journals are scarce. This paper provides descriptive data on approximately 518,000 articles that appeared in 2,509 Turkish journals published between 1923 and 1999. Data comes from the Bibliography of Articles of the Republican Era 1923-1999 that was recently published by the Turkish National Library. Two thirds of the articles were on technology and social sciences. Articles in medicine constituted one fifth of all articles followed by economics (12.5%) and agriculture (6.1%). An overwhelming majority of articles were authored by a single author. One tenth of all articles appeared in ten journals. Findings can be used to develop library collection management policies for Turkish journals
Cumhuriyet Dönemi Makaleler Bibliyografyası 1923-1999: Eleştirel Bir Değerlendirme.
No full textThe Turkish National Library has recently published the Bibliography of Articles of the Republican Era 1923-1999 (BARE) on CD-ROM. BARE is the most comprehensive bibliography that indexes the articles contained in Turkish journals received by the Library through “legal depot”. It contains bibliographic information on a total of 566,627 articles that appeared in 4,418 Turkish journals and periodicals. This paper critically reviews the Bibliography on the basis of its user interface, database design and data quality. Human-computer interaction (HCI) issues and the usability criteria seem to have not been taken into account when designing the user interface of the BARE CD-ROM. The user interface is not intuitive. It appears that a comprehensive systems analysis study was not carried out before designing the database and the principles of database management design seem to have been ignored. Bibliographic data listed in the printed copies of the Bibliography was simply transferred to a flat table, which resulted in data redundancy and waste of space. Boolean searches cannot be performed on author and article titles. Nine percent of the records contained errors in article and journal titles as well as authors’ names. Used through the web site of the Turkish National Library, the Bibliography and its interface should be redesigned and improved, and the functions of the search engine should be increased
The Influences of Sectarian Fanaticism on Descriptions of Other Sects
No full textWOS: 000391860100006Kitab al-Firaq is an important work belonging Abu Muhammad al -Yemeni. It reflects sectarian perception of Sunni scholars who lived in Yemen in the sixth century AH. But there is not enough information about the author and his work in the sources. But it is known that he has affected some scholars like Saksaki. In addition, influences of political, social and religious structure of Yemen can be seen in Kitab al-Firaq. Ash'arite, Ashabu'l-Hadith, Ismaelite, and Zaidiyyah were the most common sects in Yemen at that time. The social life of the region had been shaped by politics behaving sectarian competition. Hence, written books had ideological contents. Sectarian fanaticism was affecting the descriptions made on opponents. For instance, Abu Muhammad has used exclusionary language about dissident sects. In addition, he has selected the marginal views of sects; moreover, presented some opinions by falsifying and sometimes made generalizations. Therefore, modern researchers should be careful while using his book and similar works of Islamic heresiographical literature about problems such as these
What direction for Turkey? A plea for political reconciliation. EPIN Commentary No. 26/14 October 2015
No full textEven before the recent terrorist attacks in Ankara, Turkey was a country in crisis. In this EPIN Commentary Umut Uzer attempts to shed light on the political turbulence and increasing polarisation in the country, and makes a plea for a return to consensus-building ahead of the fresh round of elections in November.
The author also calls upon the EU to offer incentives to Turkey to continue on the path of EU membership, but if membership is out of the question, then other platforms for cooperation should be negotiated. The EU should speak in a candid manner and make clear what kind of future relationship it envisages for Turkey, because now, more than ever, cooperation is in both their interests
Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome.
No full textOsteoporosis-pseudoglioma syndrome (OPPG; MIM #259770) is a rare autosomal recessively inherited disease, characterized by early-onset osteoporosis and congenital blindness, caused by loss-of-function mutations in the LRP5 gene. Beneficial effects of bisphosphonate treatment in patients with OPPG are well known, while follow-up data on growth and pubertal parameters are limited. This article provides clinical follow-up data and long-term bisphosphonate treatment results in four OPPG patients from three unrelated families, ranging between 2.5 and 7 years of age at presentation. Clinical diagnosis was molecularly confirmed in all patients, with four different germline biallelic LRP5 mutations including a novel nonsense variant c.3517C>T (p.(Gln1173*)) in two siblings with marked phenotypic variability. Anthropometric and pubertal data and bone mineral density (BMD) measurements were evaluated retrospectively. Early puberty was observed in two patients. The bisphosphonate treatment duration of patients varied around 4-7 years and improvement in BMD z-scores with bisphosphonate treatment was demonstrated in all patients (z-score changes were +5.6, +4.0, +1.0, and +1.3). Although further research is needed to identify the possible association between early puberty and OPPG, all OPPG patients should be followed up with detailed endocrinological evaluation regarding pubertal status
Nationalism versus internationalism: The roles of political and cultural elites in interwar and communist Romania
No full textKorkut, Umut (Dogus Author)This paper has two main goals. First, it illuminates continuities between the ideas of “true Romanian-ness” as held by both the Romanian cultural elite and the Romanian political regimes in the interwar and communist periods. A manufactured definition of a “true” Romanian—as a Romanian Orthodox Christian, natively Romanian-speaking, and ethnically Romanian—formed the core of Romanian nationalism, regardless of the ruling ideology. This definition did not include the Roman and Greek Catholics of Romanian ethnicity on the grounds that they were not Orthodox Christians. It goes without saying that these criteria also excluded Hungarians, Germans and other ethnic minorities on the basis of ethnicity, language and religion. Second, the paper demonstrates that the principal ideas of Romanian nationalism developed in overt contrast to the internationalist ideological movements of both periods. Both the liberals and the Marxists misunderstood nationalism, claimed Ernest Gellner in 1964: liberals assumed that nationalism was a doomed legacy of outmoded irrationalism, superstition and savagery, and Marxists considered it a necessary but temporary stage in the path to global socialism.1 Gellner’s comments are evidently appropriate to Romania, where nationalist responses developed first to the Westernization of the interwar period and second to communist internationalism after 1948
Effect of Awareness of Other Side’s Gain on Negotiation Outcome, Emotion, Argument, and Bidding Behavior
No full textDesigning agents aiming to negotiate with human counterparts requires additional factors. In this work, we analyze the main elements of human negotiations in a structured human experiment. Particularly, we focus on studying the effect of negotiators being aware of the other side’s gain on the bidding behavior and the negotiation outcome. We compare the negotiations in two settings where one allows human negotiators to see their opponent’s utility and the other does not. Furthermore, we study what kind of emotional state expressed and arguments sent in those setups. We rigorously discuss the findings from our experiments.Interactive Intelligenc
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