(Il)Legitimisation of the role of the nation state: Understanding of and reactions to Internet censorship in Turkey

This study aims to explore Turkish citizen-consumers' understanding of and reactions to censorship of websites in Turkey by using in-depth interviews and online ethnography. In an environment where sites such as YouTube and others are increasingly being banned, the citizen-consumers' macro-level understanding is that such censorship is part of a wider ideological plan and their micro-level understanding is that their relationship with the wider global network is reduced, in the sense that they have trouble accessing full information on products, services and experiences. The study revealed that citizen-consumers engage in two types of resistance strategies against such domination by the state: using irony as passive resistance, and using the very same technology used by the state to resist its domination

Heterozygous <em>COL17A1 </em>variants are a frequent cause of amelogenesis imperfecta

\ua9 Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ.Background: Collagen XVII is most typically associated with human disease when biallelic COL17A1 variants (&gt;230) cause junctional epidermolysis bullosa (JEB), a rare, genetically heterogeneous, mucocutaneous blistering disease with amelogenesis imperfecta (AI), a developmental enamel defect. Despite recognition that heterozygous carriers in JEB families can have AI, and that heterozygous COL17A1 variants also cause dominant corneal epithelial recurrent erosion dystrophy (ERED), the importance of heterozygous COL17A1 variants causing dominant non-syndromic AI is not widely recognised. Methods: Probands from an AI cohort were screened by single molecule molecular inversion probes or targeted hybridisation capture (both a custom panel and whole exome sequencing) for COL17A1 variants. Patient phenotypes were assessed by clinical examination and analyses of affected teeth. Results: Nineteen unrelated probands with isolated AI (no co-segregating features) had 17 heterozygous, potentially pathogenic COL17A1 variants, including missense, premature termination codons, frameshift and splice site variants in both the endo-domains and the ecto-domains of the protein. The AI phenotype was consistent with enamel of near normal thickness and variable focal hypoplasia with surface irregularities including pitting. Conclusion: These results indicate that COL17A1 variants are a frequent cause of dominantly inherited non-syndromic AI. Comparison of variants implicated in AI and JEB identifies similarities in type and distribution, with five identified in both conditions, one of which may also cause ERED. Increased availability of genetic testing means that more individuals will receive reports of heterozygous COL17A1 variants. We propose that patients with isolated AI or ERED, due to COL17A1 variants, should be considered as potential carriers for JEB and counselled accordingly, reflecting the importance of multidisciplinary care

Comparing online campaigning: The evolution of interactive campaigning from Royal to Obama to Hollande

© 2016 Macmillan Publishers Ltd.Studies of election campaigning from a comparative perspective have a long history; this study approaches the topic through a most-similar regime perspective to explore the ebb and flow of innovations in digital campaigning between presidential campaigns in France and the United States. The hype surrounding the 2008 Obama campaign overshadowed innovations in France the previous year, while the 2011 contest gained little serious academic attention. Using a well-established content analysis methodology the research explains the strategic design of the digital dimension of the campaigns of the leading candidates (Sarkozy and Royal in 2007, Obama and McCain in 2008, Hollande and Sarkozy in 2011, and Obama and Romney in 2012). The research then assesses the strategic contribution of each feature using schematics for understanding the flow of communication, as well as the strategy employed by each candidate. The key findings are that the campaigns are becoming more interactive, with the citizens increasingly more able to enter into conversations with the campaign teams, however interactivity when it happens is carefully controlled. Largely, however, there is a strong similarity masked by the sophistication of US contests. Despite the advances in communication technology and the social trends they have instigated, campaign communication remains top-down and digital technologies are used to gather data and push supporters towards activism than creating an inclusive space for the co-creation that cyberoptimists argued would revitalise the structures of democracy

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

Background Collagen XVII is most typically associated with human disease when biallelic COL17A1 variants (>230) cause junctional epidermolysis bullosa (JEB), a rare, genetically heterogeneous, mucocutaneous blistering disease with amelogenesis imperfecta (AI), a developmental enamel defect. Despite recognition that heterozygous carriers in JEB families can have AI, and that heterozygous COL17A1 variants also cause dominant corneal epithelial recurrent erosion dystrophy (ERED), the importance of heterozygous COL17A1 variants causing dominant non-syndromic AI is not widely recognised. Methods Probands from an AI cohort were screened by single molecule molecular inversion probes or targeted hybridisation capture (both a custom panel and whole exome sequencing) for COL17A1 variants. Patient phenotypes were assessed by clinical examination and analyses of affected teeth. Results Nineteen unrelated probands with isolated AI (no co-segregating features) had 17 heterozygous, potentially pathogenic COL17A1 variants, including missense, premature termination codons, frameshift and splice site variants in both the endo-domains and the ecto-domains of the protein. The AI phenotype was consistent with enamel of near normal thickness and variable focal hypoplasia with surface irregularities including pitting. Conclusion These results indicate that COL17A1 variants are a frequent cause of dominantly inherited non-syndromic AI. Comparison of variants implicated in AI and JEB identifies similarities in type and distribution, with five identified in both conditions, one of which may also cause ERED. Increased availability of genetic testing means that more individuals will receive reports of heterozygous COL17A1 variants. We propose that patients with isolated AI or ERED, due to COL17A1 variants, should be considered as potential carriers for JEB and counselled accordingly, reflecting the importance of multidisciplinary care

التحقق الحقلي لتأثير جدار تدعيم حفرية تأسيس عميقة على الخواص الميكانيكية للتربة ومتانتها

أثناء حفر حفرة تأسيس في طبقة سميكة من التربة الناعمة والضعيفة في سانت بطرسبرغ، روسيا، تمت مواجهة حالات عدم استقرار في جدار تدعيم الحفرية المؤلفة من أوتاد بطول 21 مترًا مصنوع من AU Arcelor 18. عند حفر حفرة التأسيس التي أبعادها (150 مترًا × 80 مترًا) وعمقها (12 مترًا) نشأت مشكلة أمام المهندسين الجيوتكنيكيين متمثلة بعدم استقرار جوانب الحفرية.   تمت زيادة ثبات الأوتاد المحيطية من خلال إنشاء عوارض رأسية وأفقية ملاصقة للأوتاد في جدار الحفرية. يمكن لهذه العملية أن تغير خصائص تربة التأسيس في المنطقة المجاورة لجدار تدعيم الحفرية. للتأكد بشكل أفضل من كيفية تغيير هذه الخصائص، تمت نمذجة حفريات لمباني مجاورة تربتها مماثلة لتربة الحفرية باستخدام برنامج العناصر المحدودة PLAXIS. يستعرض هذا البحث نتائج خواص التربة التي تم اختبارها بالتزامن مع إنشاء الحفرية العميقة المذكورة أعلاه، بالإضافة إلى النتائج المأخوذة من المباني المجاورة. تمت مناقشة الحاجة إلى المراقبة المستمرة للظروف الجيوتكنيكية باستخدام طرق السبر الستاتيكية، وذلك لتقييم منطقة تأثير البناء والتنبؤ بالتأثير المتبادل لجدار التدعيم الذي يتم تشييده على المباني المحيطة

Quantitative estimation of interferon-gamma levels among Egyptian polytransfused haematology cases ‫مرص‬ ‫يف‬ ً ‫متكررا‬ ‫دم‬ ‫نقل‬ ‫تْ‬ َّ ‫تلق‬ ‫الدم‬ ‫بأمراض‬ ‫مصابة‬ ‫حاالت‬ ‫بني‬ ‫غاما‬ -‫اإلنرتفريون‬ ‫ملستويات‬ ‫كمي‬ ‫تقدير‬

ABSTRACT This study was designed to estimate interferon-gamma (INF-γ) levels among polytransfused haematology cases. Cases were selected from the haematology unit of Alexandria main university hospital, Egypt. Complete blood counts, estimation of INF-γ and hepatitis B and C virus (HBV and HCV) status were conducted on 20 unsplenectomized patients with β-thalassaemia major and 20 patients with acute myeloid leukaemia (AML) in the maintenance phase and 20 healthy subjects. Mean haemoglobin levels and red blood cell counts were significantly higher in the control group than the AML and thalassaemia groups, while white blood cell counts were significantly lower in the control group than the case groups. Two AML patients (10%) and 1 thalassaemia patient (5%) were HBV-positive, while 5% of both case groups were HCV-positive. Mean values of INF-γ were significantly different between AML, thalassaemia major and control groups: 5517 (SD 1142) pg/mL, 1024 (SD 249) pg/mL and 2980 (SD 604) pg/mL respectively