Becoming deafblind: Negotiating a place in a hostile world

Doctor of PhilosophyThis study addresses the situation of adults who become deafblind. To date, their everday lives have received little attention in the research literature. Of the few studies conducted many involve surveys, the findings of which present the characteristics of people who are deafblind such as their rates of employment, need for support, or use of equipment. There are also a small number of qualitative studies that have explored the effects of having dual sensory impairment, and particularly in relation to communication and psycho-social wellbeing. Important as these research efforts have been, there is little empirical information available about the everyday lives of people who become deafblind and their concerns, nor any systematic attempt to theorise their experiences. There are however many personal anecdotes typically presented at conferences or through community publications and newsletters. This project aimed to redress the gap in the literature by developing a theoretical framework to explain the everyday experiences of adult who become deafblind. In doing so, it built upon the research and anecdotal literature with an overall purpose of presenting, through rigorous research, the experiences of adults who become deafblind and to do so within the broader discourse on disability and disablism. The study was informed by the social relational understanding of disability developed within the Nordic countries. Grounded theory was the method of choice to examine the lives of adults who become deafblind from their own perspective.Participant observation was employed through direct engagement in shared experiences with adults who have become deafblind both at a social group and via an e-mail list group. Mulitple in-depth interviews were undertaken both face to face and by e-mail with a smaller group of eight participants.The core finding from this study is that people who become deafblind are rendered interactionally powerless in a society predicated on seeing and hearing. The powerlessness that they experience comes from having this dual impairment in a world in which being able to see and hear are expected both in the physical and social environment. The inability of people who become deafblind to 'know and be' in the world in the same way as others results in them feeling, and experienceing, interactional powerlessness. In response, people who become deafblind actively engage in trying to minimise or remove their powerlessness. They do so by working to negotiate a place in this hostile world. They adopt four interrelated strategies, namely, doing things differently, managing support relationships, survivings others' perceptions and presenting sides of self.This study, with its central tenet that interactional powerlessness drives ongoing attempts to negotiate a place makes a theoretical contribution to understanding the experience of becoming deafblind. The findings support the concept of disbaility as social relational. Disability is not the same as the sensory impairment, rather it is expressed in the organisation of personal relations in society which render some more powerful than others and in this case, some less powerful due to their inability to use the natural means of communication of hearing and sight. Moreover, the study findings propose that professionals working with people with this dual sensory impairment must endeavour to reduce their part in the hostile world by providing information about options and support available; recognising the complexity of these adults support requirements; and considering the link between psycho-emotional issues and disablism. Further research is needed to understand empirically and theoretically the relative contribution of personal relationships vis a vis organisational or structural relationships in disabling people who become deafblind

Isolation of RNA and DNA from leukocytes and cDNA synthesis.

Item does not contain fulltextIn this chapter, methods to isolate RNA and DNA from human leukocytes for the subsequent use in molecular diagnostic tests are described. In addition, protocols for cDNA synthesis are given, both for the use in conventional reverse transcription (RT)-polymerase chain reaction (PCR), and for the use in quantitative RT-PCR reactions. Because sensitive PCR methods are commonly used in molecular diagnostics, measures to avoid contamination are described. Finally, a simple procedure to control the quality of isolated RNA is described

Diagnosis and monitoring of CBFB-MYH11-positive acute myeloid leukemia by qualitative and quantitative RT-PCR.

Item does not contain fulltextDuring the last decade, many mutations present in myeloid leukemias have been molecularly characterized. Several of these mutations have clear prognostic impact. The molecular screening of these mutations has now become an essential part in several risk-adapted international clinical trials. Here we describe protocols for the qualitative and quantitative detection of leukemic cells that are characterized by a CBFB-MYH11 gene fusion

Gfi1 and Gfi1b: key regulators of hematopoiesis.

Contains fulltext : 88475.pdf (publisher's version ) (Closed access)Transcription factor Growth factor independence 1 (Gfi1) is required for multilineage blood cell development, from stem and progenitor cells to differentiated lymphoid and myeloid cells. Gfi1 expression is rapidly induced by cytokines that control both the adaptive and innate immune systems. Gfi1 itself represses the expression of genes implicated in cell survival, proliferation and differentiation. Changes in Gfi1 expression and function have not only been implicated in neutropenia, allergy, autoimmunity and hyperinflammatory responses, but also in lymphoma and more recently in the development of leukemia. In this study, we review how Gfi1 and its paralogue Gfi1b control the development of blood cells, discuss how changes in Gfi1 and Gfi1b function contribute to hematological disease and report on the molecular function of these proteins.1 november 201

Molecular Remission in Follicular Lymphoma: Is the Era of Residual Disease Monitoring Over? Reply

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Mutations in epigenetic regulators in myelodysplastic syndromes.

Item does not contain fulltextUntil recently, the genetic aberrations that are causally linked to the pathogenesis of myelodysplastic syndromes (MDS) and myeloproliferative neoplasms were largely unknown. Using novel technologies like high-resolution SNP-array analysis and next generation sequencing, various genes have now been identified that are recurrently mutated. Strikingly, several of the newly identified genes (ASXL1, DNMT3A, EZH2, IDH1 and IDH2, and TET2) are involved in the epigenetic regulation of gene expression. Aberrant epigenetic modifications have been described in many types of cancer, including myeloid malignancies. It has been proposed that repression of genes that are crucial for the cessation of the cell cycle and induction of differentiation might contribute to the malignant transformation of normal hematopoietic cells. Several therapies that aim to re-express silenced genes are currently being tested in MDS, like histone deacetylase inhibitors and hypomethylating agents. It will be interesting to assess whether patients carrying mutations in epigenetic regulators respond differently to these novel forms of epigenetic therapies.1 januari 201

Is it time for a victory lap ? Changes in the media coverage of women in sport

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