71 research outputs found

    Primary catastrophic antiphospholipid syndrome in an 8 year-old girl

    Get PDF
    Antiphospholipid syndrome (APS) is a disease characterized by recurrent arterial and venous thromboses. Rapidly progressive multiple thromboses leading to multiorgan failure occur in less than 1% of patients and named as catastrophic antiphospholipid syndrome (CAPS). We, hereby, describe an 8 year-old-girl with erythematous skin lesions progressing into purpura fulminans. The patient developed CAPS with the findings including proteinuria, microangiopathic hemolytic anemia, thrombocytopenia, arterial and venous thromboses demonstrated on skin biopsies. She was admitted to intensive care unit and received empirical antibiotics, anticoagulants, antiaggregants, steroids and intravenous immunoglobulins. The diagnosis of APS was confirmed by positive lupus anticoagulants, elevated anti beta-2 glycoprotein IgG and antiphospholipid IgG titers. Moreover, other than MTHFRA1298C, MTHFR-C677T, factor V H1299R, beta fibrinogen-455 G>A heterozygosity indicating low risk for thrombophilia, no infectious, rheumatological or malignant etiologies were identified. Family history revealed Raynaud’s phenomenon in a sister, interstitial lung disease, proteinuria and hematuria in paternal grandmother in addition to lupus anticoagulant positivity in father and 2 elder sisters. Her treatment included debridement of necrotic skin tissue, grefting and local mesenchymal stem cell application to upper thigh and lower leg region following oral azathioprine administration

    Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

    Get PDF
    The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia1-3, has resulted in an elevated burden of recessive disease4. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized ‘genetic purging’. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics

    Making a story make sense: Does evidentiality matter in discourse coherence?

    No full text
    Evidentiality refers to the linguistic marking of the nature/directness of source of evidence of an asserted event. Some languages (e.g., Turkish) mark source obligatorily in their grammar, while other languages (e.g., English) provide only lexical options for conveying source. The present study examined whether or under what conditions firsthand source information is relied on more than nonfirsthand sources in establishing discourse coherence. Turkish- and English-speaking participants read a series of somewhat incongruous two-sentence narratives and were to come up with a way of completing each narrative so that it would form a coherent story. Each narrative contrasted two source types (firsthand vs. hearsay, firsthand vs. inference, or inference vs. hearsay) and two information types (general vs. particular information) each presented first or second. Analysis of story completions showed greater overall reliance on firsthand information when it was presented second and referred to a particular event. When the firsthand source occurred first and the particular event occurred second, the latter was favored, especially by Turkish participants. Taken together, the findings suggest that evidentiality interacts with information type in establishing discourse coherence and that both firsthand and particular information are relied on more when presented later rather than earlier in discourse

    The forest products industry in Turkey

    No full text
    This study was conducted to analyze the structure of Turkey's wood products industry and to suggest ways to improve the country's competitive position in global markets. The 415 largest solid wood manufacturers were surveyed using questionnaires administered in personal interviews and by mail. Results reveal that forest product enterprises are geographically clustered in a few provinces. Thirteen percent of respondents are using outdated technology while 63% are using relatively new technology and 24% are using advanced technology. The 2001 economic crisis seriously affected the wood products industry with a 38% decrease in the number of employees and a number of shuttered facilities. Overall, the research indicates that the Turkish forest products industry is fragmented and is experiencing a number of obstacles to further development. Turkey has an established but generally inefficient forest products industry. This article gives an overview of the sector and offers recommendations for improvement. Results from this study can be useful to manufacturers and policy makers in Turkey and other countries with similar industry structures in short and long-term sectoral planning and development

    Production and marketing structure of large scale forestry products industry enterprises in Turkey

    No full text
    In Turkey, a country with 21.2 million ha of forest land, it is evident that the processed forest products have not been able to be developed to realize their potential with regards to the exports possibilities. It is obvious that the situation is to the disadvantage of Turkey in terms of the trading equilibrium when the exports and imports figures are examined. According to the results of the research carried out locally with respect to the Turkish Forest Products Industry, the emphasized problems emerge as the misapplication of incentives, the disability to catch up with the technological innovations, problems regarding raw material quality, undercapitalization, lack of qualified personnel, etc. By the help of this study which had been planned to cover the whole Turkish Forest Products Industry; the target is to reveal the structural situations of the large scale businesses in Turkey in the first few years of the 20th century, where modern management principles are assumed to be applied. The research had been finalized with the comments made upon the results of the questionnaires gathered through mostly face-to-face interviews with 415 large scale forest product firms where it was assumed that contemporary management principles and technological developments were applied relatively easier. As the questionnaire study was applied by the researchers themselves directly, it was also supported through observations

    An evaluation on growth potential of the small and medium scale enterprises (SME) in Turkish furniture industry

    No full text
    With its increasingly expanding uses, the furniture industry has become a basic industrial sector in the world, especially in the developed countries, and it represents 2% of the total labour and 2% to 4% of the total production. The global foreign trade of furniture was around $174 billion in 2008. Though it has been growing fast, the furniture industry in Turkey is far from the level in the developed countries. In regard to the Turkish furniture industry, 99% of which consists of small and medium scale enterprises, just like all the other industries, few data are needed to be able to make accurate evaluations. The current conditions in the small and medium scale enterprises have been neatly described in this study. It tries to offer solutions to the problems, analyze the competition opportunities and shed light for future studies by eliminating inadequate data. It is the first study in the field since there has not been such research which covers the whole country except for the regional ones. Also, this project is supplementary to the studies carried out by the researchers on the large-scale enterprises, the whole industry is analyzed

    Finite verb inflections for evidential categories and source identification in Turkish agrammatic Broca's aphasia

    No full text
    This study presents the pioneering data on the neurological representation of grammatically marked evidentials with regard to their dissolution in agrammatic Broca's aphasia. Across two tasks, we investigated the production of finite verb inflections for evidential categories and identification of the information sources these evidential categories are mapped on in Turkish individuals with agrammatic aphasia. In Turkish, information source is grammatically marked for three different past contexts: direct perception, reportative, and inferential. The following research questions were explored: (1) is inflection for different evidential categories equally affected in Turkish agrammatic aphasia? (2) Is identifying the categories of information source impaired? Turkish agrammatic speakers and non-brain-damaged speakers (NBDs) were tested with a production and a source identification tasks. Our findings demonstrate that in Turkish agrammatic speakers the direct perception evidential was more affected in production than the inferential and reportative evidentials. However, the agrammatic speakers retained the ability to identify the source for the direct perception. We argue that information source values conveyed by evidential forms are impaired in agrammatic aphasia. These findings are discussed on the basis of earlier studies to time reference and tense in agrammatism.17 page(s

    The Relationship between Source Memory and Linguistic Encoding of Source: A Study of 3-6 year-olds

    No full text
    This study aimed to explore whether the development of source memory is related to the use of linguistic markers of evidentiality. Eighty-seven 3-, 4-, 5-, and 6-year-old Turkish-speaking monolingual children participated in two source memory tasks: (1) Mode of Knowledge Acquisition Task and (2) Source Identification Task, and three language tasks (1) Direct Experience Task, (2) Inference Task and (3) Reportative Task. Results of the source memory tasks revealed lower performance for 3-year-old children compared to older children. On the Direct Experience Task, children of all ages could use the -DI inflection correctly, but in the other two language tasks younger children displayed lower performance than older children in using the correct evidentiality markers. Children's performance in using (I)mIs on the Reportative Task was found to predict their performance on the Source Identification Task. Moreover, children's performance on this source memory task was compared to English-speaking children's performance on the same task in Drummey and Newcombe's (2002) study. This comparison indicated that Turkish-speaking children show correct source identification performance at an earlier age compared to English-speaking children. The findings are discussed in terms of the development of source memory and the relation between language and cognition
    corecore