1,152 research outputs found

    Experience with hyperphenylalaninemia in a developing country: Unusual clinical manifestations and a novel gene mutation

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    We report our experience in a cohort of patients with hyperphenylalaninemia in a tertiary care referral center in Lebanon. Forty-one sequential patients were studied: 34 classical phenylketonuria (PKU), 3 hyperphenylalaninemia (non-PKU), and 4 biopterin metabolism defects. The majority of cases were clinically diagnosed at variable ages with variable neurological outcomes. Only 29.3percent were detected by neonatal screening. Two unusual cases were observed in the context of inadequate treatment in 1 and delayed therapy in the other: a newborn with PKU developed severe keratomalacia; and a 5-year-old girl with dihydropteridine reductase deficiency due to a novel mutation identified in the quinoid dihydropteridine reductase gene developed Lennox-Gastaut syndrome and white matter changes with periventricular cysts. Part of our experience parallels that in the West. However, the clinical manifestations observed in our patients emphasize the importance of a national newborn screening program with efficient management of diagnosed cases. © 2011 The Author(s).Acosta Phyllis B., 2003, Southeast Asian Journal of Tropical Medicine and Public Health, V34, P202; *BIOMDB, SUM MUT TETR BH4; Daher R, 2003, ANN SAUDI MED, V23, P16; Habot-Wilner Z, 2007, CORNEA, V26, P629; Ozalp I, 2001, TURKISH J PEDIATR, V43, P97; SCHRIVER CR, 2008, ONLINE METABOLIC MOL; SUGITA R, 1990, J COMPUT ASSIST TOMO, V14, P699, DOI 10.1097-00004728-199009000-00003; TADA K, 1980, TOHOKU J EXP MED, V132, P123; Yalaz K, 2006, J CHILD NEUROL, V21, P987, DOI 10.2310-7010.2006.0022825

    Cultured Meat Factory

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    Cultured Meat Factory is a project that dwells in the intersection between technology, nature and culture. With the overall goal to understand how technology can change society, I chose to speculate on the future of food production. Bioengineering has offered us tools to produce meat without the slaughtering of animals. It means not only potential animal liberation but also, various impacts on the landscape, on economics and social relations with food.The meat factory works as a cooperative model. It aims not only to supply the yearly demand of meat but also to democratize access to technology. The cultural aspect of the program enhances community participation on the decisions regarding the production of the food itself but also, through the “bio-hacking labs” allow the common folk to understand and replicate those techniques, further developing the technology itself. It takes food production away from big corporations, giving it back to the community, creating resilience, diminishing inequalities. Although the program is not site specific, it does fit within the context of Parkstad. A post-mining community struggling with unemployment and lack of identity, the idea of a new production facility that doubles as public square not only creates new opportunities for economic growth but also potential community engagement and, by making livestock production obsolete, new greener and ecologically oriented opportunities arise to re-create Parkstad as a future garden city.Architecture, Urbanism and Building Science

    Effect of tibolone therapy on lipids and coagulation indices [3]

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    [No abstract available]Banks E, 2003, LANCET, V362, P419; Bjarnason NH, 1997, J CLIN ENDOCR METAB, V82, P1752, DOI 10.1210-jc.82.6.1752; Christodoulakos GE, 2004, GYNECOL ENDOCRINOL, V18, P244, DOI 10.1080-09513590410001715207; FARISH E, 1994, MATURITAS, V20, P215, DOI 10.1016-0378-5122(94)90019-1; Jackson G, 2001, EUR HEART J SUPPL, V3, pM17, DOI 10.1016-S1520-765X(01)90078-1; MACART M, 1989, CLIN CHEM, V35, P211; Malatyahoglu E, 2000, TURK J MED SCI, V30, P469; Rossouw JE, 2002, JAMA-J AM MED ASSOC, V288, P321; Winkler UH, 2000, FERTIL STERIL, V74, P10, DOI 10.1016-S0015-0282(00)00587-223

    Mathematics Learning Community Flourishes in the Cellular Phone Environment

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    Researchers point at the importance of nourishing learning communities, which do not merely represent congeniality but rather dig deeply into learning. These learning communities are needed in mobile learning environments. In this article, the author examines the building of a community of middle school students who learned mathematics outside the classroom by carrying out real life activities using their cellular phones. The building of the learning community was led by three 3rd year pre-service teachers majoring in mathematics and computers at Al-Qasemi Academic College of Education. The pre-service teachers worked for 12 weeks with 30 8th grade students who then learned mathematics with their cellular phones and were part of a learning community. The research shows that the use of the cellular phone for learning contributed to their learning, their identity, and their sense of community.</p

    La construction de l’islamité et l’intégration sociale des musulmans selon la perspective des leaders musulmans au Québec

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    L’auteur s’intéresse aux processus de construction d’une islamite québécoise. Dans cet article, il analyse tout d’abord la conception de l’intégration à la société québécoise dans le discours que les leaders musulmans adressent à leurs coreligionnaires. Cette conception de l’intégration prend appui sur une interprétation de ce que doivent être les relations entre musulmans et non-musulmans, sur une perception particulière des politiques d’intégration canadienne et québécoise et sur une volonté de consolider le plus possible la communauté musulmane. L’auteur examine par la suite les effets de la politique d’« accommodement raisonnable » en vigueur au Québec et s’interroge sur les effets pervers potentiels de celle-ci, eu égard à la tendance au repli communautaire.The author focuses on the process of constructing a Québécois Islamity. In this article, he begins by analyzing how integration into Québec society is conceived in the discourse addressed by Muslim leaders to fellow members of their religion. This conception of integration is based on an interpretation what the relationship between Muslims and non-Muslims ought to be, on a particular view of Canadian and Québec integration policies, and on a desire for the greatest possible consolidation of the Muslim community. The author then examines the effects of the prevailing «reasonable accommodation» policy in Québec, and reflects on its potentially perverse effects with regard to the trend towards community withdrawal.El autor se interesa en los procesos de construcción de una islamidad quebequense. En este artículo, analiza en un comienzo la concepción de la integración a la sociedad quebequense en el discurso que los líderes musulmanes dirigen a sus correligionarios. Esta concepción de la integración se apoya sobre una interpretación de lo que deben ser las relaciones entre musulmanes y no-musulmanes, sobre una percepción particular de las políticas de integración canadiense y quebequense y sobre una voluntad de consolidar todo lo posible a la comunidad musulmana. Tras ésto, el autor examina los efectos de la política de «acomodamiento razonable» en vigor en Quebec y se interroga sobre sus efectos perversos potenciales, debida cuenta de la tendencia al repliegue comunitario

    Is There Surrealism in Latin America?

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    A critique of NSU Fort Lauderdal Museum of Art's new exhibit: ""I Paint My Reality: Surrealism in Latin America"". The author begins by giving a brief summary of the surrealist movement, noting that Dali's The Persistence of Memory is arguably the most famous surrealist painting. He is quick to point out that the works on display in the exhibit are not like the surrealist works by European artists in the way that he questions if they can be surrealist at all, even indicating that the works may obly be included because they are by a Latin American artist

    Vitality in Work: Stories from Ras Beirut

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    This third paper in the Lives and Livelihoods in Turbulent Times series is a photo essay by the Al’a project (Lara Sabra and Nessim Stevenson) that tells the story of three Ras Beirut residents. The first and second papers in the series (by Rahaf Zaher and Zainab Alawieh respectively) both highlighted the struggles that people face and the coping strategies that they use to obtain a livelihood at a time of economic collapse. The present paper continues with the theme of crisis, but it brings to the foreground the acts of loving, living, and expressing one’s sense of self through work. All three participants in the study connect their crafts to something much larger than the craft itself – attachment and belonging to a place, being part of a tradition and a community, being the author of one’s life story. Here, in the stories told by the three participants, tradition meets agency. There is a clear sense that the stories that people tell about fishing, pigeon fancying and sewing, all have a grounding in personal histories, as well as larger family and community histories. Yet at the same time these stories are also expressions of independence and of creating and maintaining one’s place in the world
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