Thesis (M.D.)--University of Pennsylvania, 1805. / Microform version available in the Readex Early American Imprints series.

During its first nine years of operation, the Eastern Washington Rheumatic Fever Program has served twenty-five children who had rheumatic chorea, and throughout this period members of the medical team have been puzzled concerning the etiology of choreic symptoms in this small but outstanding group. This study explores psychogenic aspects of this special group of cases, and views the implications of social casework responsibilities as related to total treatment plans for such children. The study is based mainly on a careful analysis of the twenty-five case histories, and in this regard a detailed schedule was used as guide. In "following up" cases where it was possible to do som direct contacts with patients or their families were made, as well as initiation of correspondence with some of the other social agencies particularly involved in certain case situations. Historical and statistical research material was included in the presentation of background factors of the illness in general, and In the outline of the rheumatic fever program. The primary objective of the study was to emphasize the importance of social and emotional factors in chorea as a sample illness, and to clarify the urgency of the need for social casework treatment concerning these factors. In growing children where such psychological problems exist, remedial therapy is particularly essential, and for this reason alone the study serves a useful purpose. Probably the most important specific findings of the survey were that these children seemed unusually conforming and submissive, so that their symptomatic behaviour appeared to indicate a need for permissable expression of pent-up, forbidden impulses. They seemed singularly deprived of adequate dependency upon parents or parent surrogates, and overly repressed, confirming, and masochistic, they found this abnormal means of ventilating instinctive aggressions and hostilities; this way of regressing to a more comfortable, dependent condition. Although the group studied was small, it nevertheless represented a complete survey of cases of rheumatic chorea appearing in the defined area during a nine year period. Therefore the conclusions presented are valuable in providing tentative bases for consideration in offering social casework assistance with the total treatment for the choreic child. / Arts, Faculty of / Social Work, School of / Graduate

Ulm, Univ., Diss., 2008.

Thesis (Ph. D.)--University of California, San Diego, 2000. / Vita. Includes bibliographical references (leaves 165-180).

Thesis (Ph. D.)--University of Virginia, 2006. / Includes bibliographical references. Also available online through Digital Dissertations.

Huntington’s disease (HD) is a dominantly inherited neurodegenerative disorder of typically mid-life onset, for which there is currently no cure. HD is one of nine neurological disorders caused by the expansion of a CAG trinucleotide repeat that encodes an extended polyglutamine tract within the respective disease proteins (which, in the case of HD, is Huntingtin). Curiously, despite these proteins having mostly widespread patterns of expression in the brain, a specific subset of neurons is preferentially affected in each disease, whilst other neurons also expressing the mutant protein are relatively unaffected. Furthermore, although the expression patterns of these disease proteins often overlap in distribution within the brain, the population of neurons that is most vulnerable differs from one disease to the next. Knowledge of what determines the specificity of neuronal vulnerability is likely to provide insight into the molecular mechanism(s) underlying the pathology in these diseases. The aim of this work was to use the zebrafish model organism to investigate two factors hypothesised to contribute to the specificity of neuronal vulnerability in HD: 1) region-specific somatic expansion of the disease allele, and 2) disruption of normal Huntingtin (Htt) protein function. The most significant findings of this study resulted from the investigation into the normal function of Htt. Antisense morpholino oligonucleotides were used to specifically knock down Htt expression in early zebrafish development, resulting in a wide variety of developmental defects. Most notably, Htt-deficient zebrafish had pale blood due to a decrease in haemoglobin production, despite the presence of (apparently unavailable) iron within these cells. Provision of additional iron in a bio-available form to the cytoplasm restored haemoglobin production in Htt-deficient embryos. Since blood cells acquire iron via receptor-mediated endocytosis of transferrin, these results suggest a role for Htt in the release of iron from endocytic compartments into the cytosol. Iron is required for the function of many cellular proteins and enzymes that play key roles in oxidative energy production. Disrupted iron homeostasis and decreased energy metabolism are features of HD pathogenesis that correlate to the major sites of degeneration in the HD brain. The findings of this study raise the possibility that perturbation of normal Htt function (by polyglutamine expansion) may contribute to these defects, thereby providing a novel link between Htt function and specificity of neuronal vulnerability in HD. / http://proxy.library.adelaide.edu.au/login?url= http://library.adelaide.edu.au/cgi-bin/Pwebrecon.cgi?BBID=1274748 / Thesis (Ph.D.) -- University of Adelaide, School of Molecular and Biomedical Science, 2007

Several new techniques were developed to assess quantitatively the degree to which patients with Huntington's disease (HD) are aware of their deficits, to evaluate the relation between cognitive impairment and unawareness of deficits, and to determine whether patients exhibit differential awareness of their motor disturbance and cognitive deficits. Results of a questionnaire measure indicated that HD patients rated their own difficulties with motor and cognitive activities of daily life significantly lower than relatives rated patients' problems, and this discrepancy was related to patients' level of cognitive impairment. In contrast, patients were reasonably accurate when predicting their performance on specific motor and cognitive tasks when compared to both their actual performance and relatives' predictions. Several interpretations of these findings are discussed, and the role of frontal lobe dysfunction in the awareness problems characterizing dementia is considered.

The debate on genetic testing for Huntington???s disease has been dominated heavily by the bioethical and biomedical discourses. Yet upon analysis, both discourses are highly inadequate for understanding the complexity of the difficult choices people are faced with, and the inter-personal relations that are central to decisions regarding the uptake of genetic tests. The purpose of this thesis is two-fold. Firstly, to conduct a theoretically-informed critical analysis of the existing bioethical discourse on genetic testing for Huntington???s disease, that draws primarily on the work of contemporary feminist thinkers. Secondly, to explore how people with a genetic risk for Huntington???s disease negotiate the available choices between certainty and uncertainty; how they experience the liminality of ???being at risk??? in everyday life; how they manage their social environments; and how they interpret their own situation. The matter of ???choice??? is heightened because of the ready availability of genetic testing for Huntington???s disease, and the moral rhetoric that accompanies the provision of genetic services. Empirically, the research draws on the narratives by eleven people with a family history of Huntington???s disease, through which they discuss their fears of living in the shadow of the fatal disease, and consider their choices on reproduction and genetic testing. Their narratives will be analysed through the work of Foucault and Goffman, as well as a wide range of contemporary sociologists.The thesis being proposed is that decisions on genetic testing cannot be said to be ???individual???, but are instead dispersed among the social relations between the self and others, reflecting and transforming the values, competing desires, and the discourses that are prevalent in their social worlds. This is achieved through the discursive production of a web of narratives through which both individuals and institutions attempt to govern, with varying degrees of success, the implications of this relatively new field of knowledge.

No description available.

Alterations in both structural and synaptic plasticity in the adult brain have been implicated in impaired learning and memory. In the present study, we investigated if hippocampal plasticity is affected in the transgenic YAC128 mouse model of Huntington disease (HD). Reductions in adult hippocampal neurogenesis were observed in the dentate gyrus (DG) of early symptomatic to end-stage mice compared with wild-type (WT) controls, however there were no changes in cell proliferation and differentiation in the subventricular zone. Early symptomatic mice also displayed attenuated paired-pulse plasticity and long-term depression in the DG, while long-term potentiation was found to be normal in YAC128 mice. The changes in hippocampal plasticity may contribute to the cognitive abnormalities observed in these animals. / Graduate / 0306