Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells

Human pyruvate dehydrogenase complex (PDC) catalyzes a key step in the generation of cellular energy and is composed by three catalytic elements (E1, E2, E3), one structural subunit (E3-binding protein), and specific regulatory elements, phosphatases and kinases (PDKs, PDPs). The E1α subunit exists as two isoforms encoded by different genes: PDHA1 located on Xp22.1 and expressed in somatic tissues, and the intronless PDHA2 located on chromosome 4 and only detected in human spermatocytes and spermatids. We report on a young adult female patient who has PDC deficiency associated with a compound heterozygosity in PDHX encoding the E3-binding protein. Additionally, in the patient and in all members of her immediate family, a full-length testis-specific PDHA2 mRNA and a 5′UTR-truncated PDHA1 mRNA were detected in circulating lymphocytes and cultured fibroblasts, being bothmRNAs translated into full-length PDHA2 and PDHA1 proteins, resulting in the co-existence of both PDHA isoforms in somatic cells.Moreover, we observed that DNA hypomethylation of a CpG island in the coding region of PDHA2 gene is associatedwith the somatic activation of this gene transcription in these individuals. This study represents the first natural model of the de-repression of the testis-specific PDHA2 gene in human somatic cells, and raises some questions related to the somatic activation of this gene as a potential therapeutic approach for most forms of PDC deficiency.

Historical sketches of the ancient native Irish and their descendants;

Published later under title: The native Irish and their descendants.

The National cancer program [microform] : hearing before a subcommittee of the Committee on Government Operations, House of Representatives, Ninety-fifth Congress, first session.

Reuse of record except for individual research requires license from Congressional Information Service, Inc.

Public administration in an age of austerity:the future of the discipline

Reflecting changes in the nature of governance, some have questioned whether Public Administration is now an historical anachronism. While a legitimate debate exists between sceptics and optimists, this special issue demonstrates grounds for optimism by indicating the continuing diversity and adaptability of the field of Public Administration. In this introduction, we first sketch the variety of intellectual traditions which comprise the field of modern Public Administration. We then consider institutional challenges facing the subject given considerable pressures towards disciplinary fragmentation, and ideological challenges arising from a new distrust of public provision in the UK. Despite these challenges, Public Administration continues to provide a framework to analyse the practice of government and governance, governing institutions and traditions, and their wider sociological context. It can also directly inform policy reform - even if this endeavour can have its own pitfalls and pratfalls for the 'engaged' academic. We further suggest that, rather than lacking theoretical rigour, new approaches are developing that recognise the structural and political nature of the determinants of public administration. Finally, we highlight the richness of modern comparative work in Public Administration. Researchers can usefully look beyond the Atlantic relationship for theoretical enhancement and also consider more seriously the recursive and complex nature of international pressures on public administration. © The Author(s) 2012 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

A study of the effects of orally administered female hormones on the volume and composition of lacrimal fluid related to the toleration of corneal contact lenses

This study was designed to evaluate the effects of certain orally active contraceptive steroids on the eye, related to the tolerance of a corneal contact lens. An oestrogen, ethinyloestradiol BP. 0.05 mg, a progestogen, norethisterone acetate BP. 2.50 mg and a control tablet (vitamin C, 50 mg) were utilised. The effect of these preparations on corneal curvature, lacrimal fluid volume and protein composition and directly on corneal lens tolerance was monitored in a group of 23 volunteer patients. The progestogen was found to produce a significant (P≥ 0.05) decrease in tear volume as measured by a 3 minute Schirmer test. A smaller volume reduction was observed with ethinyloestradiol. A normal cornea appears unaffected, within the measurement limits available, by the use of either hormone. However, in the presence of a corneal lens, oestrogen was found to induce substantial corneal steepening, indicative of tissue oedema, during the initial 2-3 weeks of medication. Progestogen occasionally produced a similar effect, which could recur with either hormone shortly after the end of the treatment period. A new method of acrylamide gel electrophoresis was developed for examination of the protein concentration and composition of lacrimal fluid. This allowed much greater resolution of microquantities of unconcentrated fluid than anything previously reported. Quantitation by densitometry has permitted the recording of medication and lens-induced changes in the protein pattern. Tear albumin has been shown to differ from serum albumin and to consist of up to 3 subfractions, 7 further protein fractions may also be resolved. The concentration and probable origin of these proteins have been established and the overall effects of hormone administration described. Individual idiosyncratic responses are also discussed. The study has established tbenature of some effects of contraceptive steroids on the anterior eye, and the probable reasons for resultant corneal lens intolerance.

Content and drivers of performance management in agency-type organizations of the hungarian public administration

The improving performance of public administration and the reform of public financing system have been on agenda in Hungary for many years, in accordance with the international trends. However, governments have not expected and supported creating of a performance-oriented public administration in a comprehensive and explicit way. Nevertheless, there are bottom-up initiatives at organizational level, which target performance-oriented organizational function. The research focuses on organizations of central public administration where the successful application of performance management methods is most likely based on the international literature. These are the so called agency-type organizations, which are in Hungary called autonomous state-administration organizations independent of the Government (e.g. Hungarian Competition Authority), government bureaus (e.g. Hungarian Central Statistical Office), and central offices subordinated to the government (either the cabinet or a ministry) (e.g. Hungarian Meteorological Service). The studied agencies are legally independent organizations with managerial autonomy based on public law. The purpose of this study is to get an overview on organizational level performance management tools applied by Hungarian agencies, and to reveal the reasons and drivers of the application of these tools. The empirical research is based on a mixed methods approach which combines both quantitative methods and qualitative procedures. The first – quantitative – phase of the author’s research was content analysis of homepages of the studied organizations. As a results she got information about all agencies and their practice related to some performance management tools. The second – qualitative – phase was based on semi-structured face-to-face interviews with some senior managers of agencies. The author selected the interviewees based on the results of the first phase, the relatively strong performance orientation was an important selection criteria.

"On our way": identities and representations of African women seeking asylum in Ireland

This thesis provides the first explicit Postcolonial study of asylum in the Irish context that integrates Black Feminist analyses of intersectional identity with Postcolonial Feminist theories of representation. African women seeking asylum in the Republic of Ireland were key political instruments used by the state to re-draw racial lines. The study examines how, for a group of African women “On their Way” through asylum, identity and representation work hand in hand to force identities, subaltern spaces and bodies to occupy them. Rich biographical data is gathered through mixed art and drama methods over two intensive participatory research projects conducted in a small Irish city. Data analysis critically examines the poetics (practices that signify) and politics (the powers that govern these practices) and affective economies of global and local NGO visual representations, exposing how they consume, fragment, and appropriate African women’s identities and bodies. Though hypervisible, the women themselves “cannot speak”. The women in the study reported feeling “tired” and “used”. Asking “What work are they doing as they do asylum?” the study finds that black female identities and bodies are forced to perform political, cultural, emotional and material labour on their way through this context of Irish asylum. The author argues that Postcolonial Asylum is a performative encounter that re-scripts colonial race/class/gender discourse through a humanitarian alibi to naturalize European/white supremacy, reinscribe patriarchal power and justify racialised incarceration of bodies seeking asylum in the North. This study takes an interdisciplinary approach that centralizes Black and Postcolonial Feminist theory and innovates Participatory Art-Based Action methodology. Black and Postcolonial feminisms can recognize, theorize and replenish black female political and intellectual agency. Participatory Action research, if grounded in Black feminist epistemology and ethics, can allow participants to “speak back” to what is already said about them in spaces of convivial self-representation.

Saint, martyr, killer of Christ? The legend of Longinus in medieval Irish tradition

This dissertation is the first comprehensive and synthetic study of the Irish presentation and legends of Longinus. Longinus was the soldier at the crucifixion who pierced Christ with a spear, who believed and, according to some texts, was healed of his blindness by the blood and water issuing from the wound, and who later was martyred for his belief. In my thesis I survey the knowledge and use of the legend of Longinus in Ireland over genres and over time. Sources used for the analyses include iconographic representations of the spear-bearer in manuscripts, metalwork and stone and textual representations of the figure of Longinus ranging over the history of Irish literature from the early medieval to the early modern period, as well as over Irish and HibernoLatin texts. The thesis consists of four core chapters, the analyses of the presentations of Longinus in early-medieval Irish texts and in the iconographic tradition (I,II), the editions of the extant Irish and the earliest surviving Latin texts of the Passion of Longinus and of a little-known short tract describing the healing of Longinus from Leabhar Breac (III), and the discussion of the later medieval Irish popular traditions (IV). Particular attention is given to the study of two intriguing peculiarities of the Irish tradition. Most early Irish Gospel books feature an interpolation of the episode of the spear-thrust in Matthew 27:49, directly preceding the death of Christ, implying its reading as the immediate cause of death. The image of Longinus as 'iugulator Christi' ('killer of Christ') appears to have been crucial for the development of the legend. Also, the blindness motif, which rarely features in other European popular traditions until the twelfth century, is attested as early as the eighth century in Ireland, which has led some scholars to suggest a potential Irish origin.

Airborne Laser Scanning and the Archaeological Interpretation of Ireland’s First World War Landscape”:The Case Study of Randalstown Training Camp

The training of Irish soldiers for service in the British Army during the First World War required the establishment of training camps across the island, such as at Shane’s Castle Estate, close to Randalstown in County Antrim, Northern Ireland. The camp saw active use from 1914 to 1918 but after the war it was demilitarised and returned to use as farmland. Archaeological investigations have revealed that earthwork traces of the camp can still be identified in the modern landscape. Comparison of a map of the camp from 1915, Airborne Laser Scanning data and aerial photographs has enabled the footprint of the camp to be re-established, while also helping to identify the location of specific elements such as the remains of barrack huts, stores, mess halls and officers’ quarters.

Compensating Irish female revolutionaries, 1916-1923

The newly released Irish Military Service Pensions Collection offers the most comprehensive opportunity to examine the role of women in the Irish revolution (1916-1923) or in any comparable nationalist revolution. It is also an extremely useful source of evidence for an emerging historiographical trend of tracing the post-revolutionary lives of female veterans by examining the award of service pensions to them by that state. This article will examine the role played by gender in the award of such pensions, the economic and financial significance of them in a state that had under-developed welfare provision and the importance of them as a symbolic recognition of women’s roles in helping to achieve Irish independence. It also compares the post-conflict experience of Irish female revolutionary veterans with women who were involved in comparable international military conflicts.

The Pair-Bond Formation and Its Role in the Stimulation of Reproductive Function in Female Common Marmosets (Callithrix jacchus)

SILVA, H.P.A.; SOUSA, M.B.C. The pair-bond formation and its role in the stimulation of reproductive function in female common marmosets (collithrix Jacchus). International Journal of Primatology, v, 18, n.3, p.387-400, 1997.

The Pair-Bond Formation and Its Role in the Stimulation of Reproductive Function in Female Common Marmosets (Callithrix jacchus)

SILVA, H.P.A.; SOUSA, M.B.C. The pair-bond formation and its role in the stimulation of reproductive function in female common marmosets (collithrix Jacchus). International Journal of Primatology, v, 18, n.3, p.387-400, 1997.

First molecular detection and characterization of herpesvirus and poxvirus in a Pacific walrus (Odobenus rosmarus divergens)

BACKGROUND Herpesvirus and poxvirus can infect a wide range of species: herpesvirus genetic material has been detected and amplified in five species of the superfamily Pinnipedia; poxvirus genetic material, in eight species of Pinnipedia. To date, however, genetic material of these viruses has not been detected in walrus (Odobenus rosmarus), another marine mammal of the Pinnipedia clade, even though anti-herpesvirus antibodies have been detected in these animals. CASE PRESENTATION In February 2013, a 9-year-old healthy captive female Pacific walrus died unexpectedly at L'Oceanografic (Valencia, Spain). Herpesvirus was detected in pharyngeal tonsil tissue by PCR. Phylogenetic analysis revealed that the virus belongs to the subfamily Gammaherpesvirinae. Poxvirus was also detected by PCR in skin, pre-scapular and tracheobronchial lymph nodes and tonsils. Gross lesions were not detected in any tissue, but histopathological analyses of pharyngeal tonsils and lymph nodes revealed remarkable lymphoid depletion and lymphocytolysis. Similar histopathological lesions have been previously described in bovine calves infected with an alphaherpesvirus, and in northern elephant seals infected with a gammaherpesvirus that is closely related to the herpesvirus found in this case. Intracytoplasmic eosinophilic inclusion bodies, consistent with poxviral infection, were also observed in the epithelium of the tonsilar mucosa. CONCLUSION To our knowledge, this is the first molecular identification of herpesvirus and poxvirus in a walrus. Neither virus was likely to have contributed directly to the death of our animal.

Efficacy and safety of out-of-hospital intravenous metoprolol administration in anterior ST-segment elevation acute myocardial infarction: insights from the METOCARD-CNIC trial

We seek to examine the efficacy and safety of prereperfusion emergency medical services (EMS)–administered intravenous metoprolol in anterior ST-segment elevation myocardial infarction patients undergoing eventual primary angioplasty. This is a prespecified subgroup analysis of the Effect of Metoprolol in Cardioprotection During an Acute Myocardial Infarction trial population, who all eventually received oral metoprolol within 12 to 24 hours. We studied patients receiving intravenous metoprolol by EMS and compared them with others treated by EMS but not receiving intravenous metoprolol. Outcomes included infarct size and left ventricular ejection fraction on cardiac magnetic resonance imaging at 1 week, and safety by measuring the incidence of the predefined combined endpoint (composite of death, malignant ventricular arrhythmias, advanced atrioventricular block, cardiogenic shock, or reinfarction) within the first 24 hours. From the total population of the trial (N=270), 147 patients (54%) were recruited during out-of-hospital assistance and transferred to the primary angioplasty center (74 intravenous metoprolol and 73 controls). Infarct size was smaller in patients receiving intravenous metoprolol compared with controls (23.4 [SD 15.0] versus 34.0 [SD 23.7] g; adjusted difference –11.4; 95% confidence interval [CI] –18.6 to –4.3). Left ventricular ejection fraction was higher in the intravenous metoprolol group (48.1% [SD 8.4%] versus 43.1% [SD 10.2%]; adjusted difference 5.0; 95% CI 1.6 to 8.4). Metoprolol administration did not increase the incidence of the prespecified safety combined endpoint: 6.8% versus 17.8% in controls (risk difference –11.1; 95% CI –21.5 to –0.6). Out-of-hospital administration of intravenous metoprolol by EMS within 4.5 hours of symptom onset in our subjects reduced infarct size and improved left ventricular ejection fraction with no excess of adverse events during the first 24 hours.

The importance of a new kind of learning in collaborative networks

There is wide agreement that in order to manage the increasingly complex and uncertain tasks of business, government and community, organizations can no longer operate in supreme isolation, but must develop a more networked approach. Networks are not ‘business as usual’. Of particular note is what has been referred to as collaborative networks. Collaborative networks now constitute a significant part of our institutional infrastructure. A key driver for the proliferation of these multiorganizational arrangements is their ability to facilitate the learning and knowledge necessary to survive or to respond to increasingly complex social issues In this regard the emphasis is on the importance of learning in networks. Learning applies to networks in two different ways. These refer to the kinds of learning that occur as part of the interactive processes of networks. This paper looks at the importance of these two kinds of learning in collaborative networks. The first kind of learning relates to networks as learning networks or communities of practice. In learning networks people exchange ideas with each other and bring back this new knowledge for use in their own organizations. The second type of learning is referred to as network learning. Network learning refers to how people in collaborative networks learn new ways of communicating and behaving with each other. Network learning has been described as transformational in terms of leading to major systems changes and innovation. In order to be effective, all networks need to be involved as learning networks; however, collaborative networks must also be involved in network learning to be effective. In addition to these two kinds of learning in collaborative networks this paper also focuses on the importance of how we learn about collaborative networks. Maximizing the benefits of working through collaborative networks is dependent on understanding their unique characteristics and how this impacts on their operation. This requires a new look at how we specifically teach about collaborative networks and how this is similar to and/or different from how we currently teach about interorgnizational relations.