Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male

Ornithine transcarbamylase (OTC) deficiency is an X-linked urea cycle defect. While hemizygous males typically present with hyperammonemic coma in infancy, reports of rare late-onset presentations exist, with poor outcomes in males up to 58 years old. Relatives with mutations identical to affected patients often remain asymptomatic, and it is likely that environmental and genetic factors influence disease penetrance and expression. Here, we present our investigation of a patient with late-onset presentation, and we emphasize the potential role of environmental and genetic factors on disease expression. The patient was a previously healthy 62-year-old man who developed mental slowing, refractory seizures, and coma over an 8-day period. Interestingly, the patient had recently used home gardening fertilizers and pesticides. Evaluations for drug and alcohol use, infections, and liver disease were negative. Despite aggressive therapy, blood NH3 concentration peaked at 2,050 μM and the patient died from cerebral edema and cerebellar herniation. Analysis of the OTC gene showed a Pro-225-Thr (P225T) change in exon 7, a mutation that has been previously implicated in OTC deficiency. This case illustrates that OTC deficiency can cause acute, severe hyperammonemia in a previously healthy adult and that the P225T mutation can be associated with late-onset OTC deficiency. We speculate that exposure to organic chemicals might have contributed to the onset of symptoms in this patient. This case also emphasizes that persistent hyperammonemia may cause irreversible neurologic damage and that after the diagnosis of hyperammonemia is established in an acutely ill patient, certain diagnostic tests should be performed to differentiate between urea cycle disorders and other causes of hyperammonemic encephalopathy

The architectures of media power: editing, the newsroom, and urban public space

This paper considers the relation of the newsroom and the city as a lens into the more general relation of production spaces and mediated publics. Leading theoretically from Lee and LiPuma’s (2002) notion of ‘cultures of circulation’, and drawing on an ethnography of the Toronto Star, the paper focuses on how media forms circulate and are enacted through particular practices and material settings. With its attention to the urban milieus and orientations of media organizations, this paper exhibits both affinities with but also differences to current interests in the urban architectures of media, which describe and theorize how media get ‘built into’ the urban experience more generally. In looking at editing practices situated in the newsroom, an emphasis is placed on the phenomenological appearance of media forms both as objects for material assembly as well as more abstracted subjects of reflexivity, anticipation and purposiveness. Although this is explored with detailed attention to the settings of the newsroom and the city, the paper seeks to also provide insight into the more general question of how publicness is material shaped and sited

Vertical Structure of the Outer Accretion Disk in Persistent Low-Mass X-Ray Binaries

We have investigated the influence of X-ray irradiation on the vertical structure of the outer accretion disk in low-mass X-ray binaries by performing a self-consistent calculation of the vertical structure and X-ray radiation transfer in the disk. Penetrating deep into the disk, the field of scattered X-ray photons with energy $E\gtrsim10$\,keV exerts a significant influence on the vertical structure of the accretion disk at a distance $R\gtrsim10^{10}$\,cm from the neutron star. At a distance $R\sim10^{11}$\,cm, where the total surface density in the disk reaches $\Sigma_0\sim20$\,g\,cm$^{-2}$, X-ray heating affects all layers of an optically thick disk. The X-ray heating effect is enhanced significantly in the presence of an extended atmospheric layer with a temperature $T_{atm}\sim(2\div3)\times10^6$\,K above the accretion disk. We have derived simple analytic formulas for the disk heating by scattered X-ray photons using an approximate solution of the transfer equation by the Sobolev method. This approximation has a $\gtrsim10$\,% accuracy in the range of X-ray photon energies $E<20$\,keV.Comment: 19 pages, 8 figures, published in Astronomy Letter

Scheduling science on television: A comparative analysis of the representations of science in 11 European countries

While science-in-the-media is a useful vehicle for understanding the media, few scholars have used it that way: instead, they look at science-in-the-media as a way of understanding science-in-the-media and often end up attributing characteristics to science-in-the-media that are simply characteristics of the media, rather than of the science they see there. This point of view was argued by Jane Gregory and Steve Miller in 1998 in Science in Public. Science, they concluded, is not a special case in the mass media, understanding science-in-the-media is mostly about understanding the media (Gregory and Miller, 1998: 105). More than a decade later, research that looks for patterns or even determinants of science-in-the-media, be it in press or electronic media, is still very rare. There is interest in explaining the media’s selection of science content from a media perspective. Instead, the search for, and analysis of, several kinds of distortions in media representations of science have been leading topics of science-in-the-media research since its beginning in the USA at the end of the 1960s and remain influential today (see Lewenstein, 1994; Weigold, 2001; Kohring, 2005 for summaries). Only a relatively small amount of research has been conducted seeking to identify factors relevant to understanding how science is treated by the mass media in general and by television in particular. The current study addresses the lack of research in this area. Our research seeks to explore which constraints national media systems place on the volume and structure of science programming in television. In simpler terms, the main question this study is trying to address is why science-in-TV in Europe appears as it does. We seek to link research focussing on the detailed analysis of science representations on television (Silverstone, 1984; Collins, 1987; Hornig, 1990; Leon, 2008), and media research focussing on the historical genesis and current political regulation of national media systems (see for instance Hallin and Mancini, 2004; Napoli, 2004; Open Society Institute, 2005, 2008). The former studies provide deeper insights into the selection and reconstruction of scientific subject matters, which reflect and – at the same time – reinforce popular images of science. But their studies do not give much attention to production constraints or other relevant factors which could provide an insight into why media treat science as they do. The latter scholars inter alia shed light on distinct media policies in Europe which significantly influence national channel patterns. However, they do not refer to clearly defined content categories but to fairly rough distinctions such as information versus entertainment or fictional versus factual. Accordingly, we know more about historical roots and current practices of media regulation across Europe than we do about the effects of these different regimes on the provision of specific content in European societies

Substantiating a political public sphere in the Scottish press : a comparative analysis

This article uses content analysis to characterize the performance of the media in a national public sphere, by setting apart those qualities that typify internal press coverage of a political event. The article looks at the coverage of the 1999 devolved Scottish election from the day before the election until the day after. It uses a word count to measure the election material in Scottish newspapers the Herald, the Press and Journal and the Scotsman, and United Kingdom newspapers the Guardian, the Independent and The Times, and categorizes that material according to discourse type, day and page selection. The article finds a number of qualities that typify the Scottish sample in particular, and might be broadly indicative of a political public sphere in action. Firstly, and not unexpectedly, it finds that the Scottish newspapers carry significantly more election coverage. Just as tellingly, though, the article finds that the Scottish papers offer a greater proportion of advice and background information, in the form of opinion columns and feature articles. It also finds that the Scottish papers place a greater concentration of both informative and evaluative material in the period before the vote, consistent with their making a contribution to informed political action. Lastly, the article finds that the Scottish sample situates coverage nearer the front of the paper and places a greater proportion on recto pages. The article therefore argues that the Scottish papers display features that distinguish them from the UK papers, and are broadly consistent with their forming part of a deliberative public sphere, and suggests that these qualities might be explored as a means of judging future media performance

Carcinogenic Effects in a Phenylketonuria Mouse Model

Phenylketonuria (PKU) is a metabolic disorder caused by impaired phenylalanine hydroxylase (PAH). This condition results in hyperphenylalaninemia and elevated levels of abnormal phenylalanine metabolites, among which is phenylacetic acid/phenylacetate (PA). In recent years, PA and its analogs were found to have anticancer activity against a variety of malignancies suggesting the possibility that PKU may offer protection against cancer through chronically elevated levels of PA. We tested this hypothesis in a genetic mouse model of PKU (PAHenu2) which has a biochemical profile that closely resembles that of human PKU. Plasma levels of phenylalanine in homozygous (HMZ) PAHenu2 mice were >12-fold those of heterozygous (HTZ) littermates while tyrosine levels were reduced. Phenylketones, including PA, were also markedly elevated to the range seen in the human disease. Mice were subjected to 7,12 dimethylbenz[a]anthracene (DMBA) carcinogenesis, a model which is sensitive to the anticancer effects of the PA derivative 4-chlorophenylacetate (4-CPA). Tumor induction by DMBA was not significantly different between the HTZ and HMZ mice, either in total tumor development or in the type of cancers that arose. HMZ mice were then treated with 4-CPA as positive controls for the anticancer effects of PA and to evaluate its possible effects on phenylalanine metabolism in PKU mice. 4-CPA had no effect on the plasma concentrations of phenylalanine, phenylketones, or tyrosine. Surprisingly, the HMZ mice treated with 4-CPA developed an unexplained neuromuscular syndrome which precluded its use in these animals as an anticancer agent. Together, these studies support the use of PAHenu2 mice as a model for studying human PKU. Chronically elevated levels of PA in the PAHenu2 mice were not protective against cancer

Comparing international coverage of 9/11 : towards an interdisciplinary explanation of the construction of news

This article presents an interdisciplinary model attempting to explain how news is constructed by relying on the contributions of different fields of study: News Sociology, Political Communications, International Communications, International Relations. It is a first step towards developing a holistic theoretical approach to what shapes the news, which bridges current micro to macro approaches. More precisely the model explains news variation across different media organization and countries by focusing on the different way the sense of newsworthiness of journalists is affected by three main variables: national interest, national journalistic culture, and editorial policy of each media organization. The model is developed on the basis of an investigation into what shaped the media coverage of 9/11 in eight elite newspapers across the US, France, Italy and Pakistan

‘Fake news’ is the invention of a liar: How false information circulates within the hybrid news system

Alarmed by the oversimplifications related to the ‘fake news’ buzzword, researchers have started to unpack the concept, defining diverse types and forms of misleading news. Most of the existing works in the area consider crucial the intent of the content creator in order to differentiate among different types of problematic information. This article argues for a change of perspective that, by leveraging the conceptual framework of sociocybernetics, shifts from exclusive attention to creators of misleading information to a broader approach that focuses on propagators and, as a result, on the dynamics of the propagation processes. The analytical implications of this perspective are discussed at a micro level (criteria to judge the falsehood of news and to decide to spread it), at a meso level (four possible relations between individual judgements and decisions), and at a macro level (global circulation cascades). The authors apply this theoretical gaze to analyse ‘fake news’ stories that challenge existing models

Honk against homophobia : rethinking relations between media and sexual minorities

The theory of &ldquo;symbolic annihilation&rdquo; or &ldquo;symbolic violence&rdquo; has been used in academic literature to describe the way in which sexual minorities have been ignored, trivialized, or condemned by the media. This article aims to de-center research from issues of media representation to consider the capacity for minority groups to proactively use new media and its various avenues for interactivity, social networking, and feedback to fight social exclusion. This work suggests that new media has become a space in which the nominally marginal in society may acquire &ldquo;social artillery&rdquo;&mdash;a term used to describe how sexual minorities utilize their expanding and more readily accessible social connections in digital space to combat instances of homophobia. The research draws on the results of an inquiry into the relation between media and a regional youth social justice group in Australia tackling homophobia. The research demonstrates that the group is becoming increasingly adept and comfortable with using a cross-section of media platforms to fulfill their own objectives, rather than seeing themselves as passive subjects of media representation. This article argues that this sets an example for other socially excluded groups looking to renegotiate their relation with the media in regional areas

Chinese-style pragmatic objectivity in war reporting

China plays an increasing role in the wars and conflicts around the world with its expanding political and economic interests overseas, and its diplomatic role in international affairs. More and more Chinese journalists go to the frontlines overseas to cover distant conflicts for domestic audiences. Based on semi-structured in-depth interviews with sixteen Chinese correspondents who have covered conflicts outside China, this study examines Chinese journalists’ perceptions and reflections on objectivity in the war zones. The author adopts a term of Chinese-style pragmatic objectivity to mean that objectivity is a convenient approach for Chinese journalists to do war journalism in the field. At the level of objectivity-as-a- value, objectivity is defined as a pragmatic value and a practical ritual for Chinese journalists to do news within the scope they can reach, to protect themselves from criticisms, and to justify their version of the truth. It promotes allegiance and patriotism. At the level of objectivity-as-a-practice, objectivity in war coverage is compromised by China’s foreign policies, military constraints, the press’s political orientations and editorial polices, and journalists’ personal experiences and values. Chinese journalists use Chinese-style objectivity to negotiate their roles in the power struggle with the state, foreign militaries, the newsroom and journalists