Made available in DSpace on 2016-03-15T19:42:13Z (GMT). No. of bitstreams: 1 Eduardo de Campos Garcia.pdf: 4355839 bytes, checksum: d7931e9f63f1a4de4ab0adace65dab1f (MD5) Previous issue date: 2011-12-09 / This Master's thesis work aims to uncover the power and knowledge involved in the formation of the concept, which is on the scene of disability. Investigate the word disability, considering it as a fossilized object, and its use in history by the ideological apparatus of the state as school and cinema. Describe and analyze how people relate to the word disability in contemporary society. Therefore, its theoretical framework, among others, Michel Foucault, Flusser and George Canguilhem. To conclude this dissertation shows that the concept of disability as a negative value and synonymous deficit is rooted in knowledge and clinical and judicial powers and that some ideological apparatus of the state, such as school and film, produce and reinforce the disability as something negative. About how some people relate to the concept of disability, the research shows that the blind, wheelchair, hydrocephalus, and do not consider themselves deaf or disabled person would call themselves, although this brand, person with disabilities has been placed on the scene by the school. The paper also points out that in contemporary times, some teachers in the state of São Paulo, but bring with them a certain doubt about what disability is and what it means, still consider it a negative state of life and behavior, a specialty to be resolved by medicine. / Esta dissertação de Mestrado tem como objetivo de trabalho desvelar os poderes e saberes envolvidos na formação do conceito, que está em cena, da deficiência. Investigar a palavra deficiência, considerando-a como um objeto fossilizado, e seu uso na história pelos aparelhos ideológicos do estado como escola e cinema. Descrever e analisar como as pessoas relacionam-se com a palavra deficiência na contemporaneidade. Para tanto, toma como referencial teórico, entre outros, Michel Foucault, Vilém Flusser e George Canguilhem. Como conclusão esta dissertação de mestrado aponta que o conceito de deficiência como um valor negativo e sinônimo de déficit tem sua raiz nos saberes e poderes clínicos e judiciário e que alguns aparelhos ideológicos do estado, tais como a escola e o cinema, produzem e reforçam a deficiência como algo negativo. Sobre o modo como algumas pessoas se relacionam com o conceito de deficiência, a pesquisa aponta que cegos, cadeirantes, hidrocefálicos, surdos não se consideram e nem se autodeclaram pessoa com deficiência, muito embora essa marca, pessoa com deficiência, tenha sido colocada em cena pela escola. A dissertação aponta também que na contemporaneidade, alguns professores do estado de São Paulo, embora tragam consigo uma certa dúvida sobre o que é a deficiência e o que ela significa, ainda a consideram um estado negativo de vida e comportamento, uma especialidade a ser resolvida pela medicina.

In the following essay, I focus on the representations of bodily "difference" in the Prague's freakshow culture, particulary on the displays of the so called "Lilliputians", which were popular among the public from the beginning of the 19th Century to the 40's of the 20th Century. Firstly, I introduce the Prague's curiosity exhibitions as a specific social praxis and I compare them with similar displays in Europe and the United States. In the second part of this essay, I try to analyse those exhibitions critically, using the concepts from the present disability studies discourse. I deal with the bodily "otherness" as a category of difference, which arises from the intersection of different ideologies. According to the point of view, this category shaped the individual and collective identities and fostered the social hierarchies of the time. Throughout the essay, I focus on the dis/continuities in the imagination of bodily "difference" and I try to describe the specificity of the Czech freakshow tradition. Key words: 19th Century, body, representations, bodily difference, abnormality, ideology

Several avenues of investigation through which the 'labyrinths' of schizopsychotic diagnosis may be examined, are offered by the consideration of the 'beacons' of symptom-profiles and biomarkers. Neurodevelopmental issues and risk assessment, neurocognitive factors of predictive necessity, supersensitivity in neurotransmitter systems, the implications of prodromal expressions of the disorder, functional dysconnectivity arising from prefrontal to diverse regional patterns and circuits with a neurodevelopmental origin, and heritable gene characteristics are viewed against the backdrop of the schizophrenia spectrum disorders. The associations between adolescent-adult use of cannabis, on the one hand, and, alternatively, the prevalence of chromosomal abnormalities, e.g., GRIK4 and NPAS3, and mental retardation, on the other hand, with the symptom-profiles of schizopsychosis provide further evidence of emerging biomarkers of biological inheritance factors. The involvement of dopamine D1 and D2 receptors, particularly in prefrontal region, with regard to functional integrity of cognitive systems is reviewed. It would appear that considerations of these disorders imply that one essential hub around which much of the neuropathology revolves may be observed in the various expressions of the cognitive and structural insufficiency.

At the Third Turner Resource Network Symposium, a working group presented the results of collaborative discussions about the importance of autopsy in Turner syndrome (TS). Considerable gaps in understanding the causes of death in TS can only be closed by more frequent death investigations and autopsies. The presentation included an overview of autopsy methods, strategies for utilizing autopsy, and biobanking to address research questions about TS, and the role of palliative care in the context of autopsy. This review highlights strategies to promote autopsy and tissue donation, culminating with an action plan to increase autopsy rates in the TS community.

Walden University College of Social and Behavioral Sciences This is to certify that the doctoral dissertation by Octavious Bishop has been found to be complete and satisfactory in all respects, and that any and all revisions required by the review committee have been made. Review Committee Dr. Thomas Edman, Committee Chairperson, Psychology Faculty Dr. Ricardo Thomas, Committee Member, Psychology Faculty Dr. Joanna Bissell-Havran, University Reviewer, Psychology Faculty Chief Academic Officer Eric Riedel, Ph.D. Quantifying the Spectrum of Depression by Octavious Bishop MA, University of Texas at Austin, 2008 BS, University of Texas at Austin, 2001 Dissertation Submitted in Partial Fulfillment of the Requirements for the Degree of Doctor of Philosophy Psychology Walden University May 2018 Depression is a medically serious and widespread mood disorder that is difficult to diagnose in an objective manner. Dopamine irregularities have been strongly implicated in depression studies, and drug therapy based on dopamine is in wide use. However, the same neurological abnormalities associated with depression also affect other neural systems, including the vestibular system, in which involuntary muscle movements involved with the contralateral acoustic reflex are located. Using nigrostriatal pathways that transmit dopamine as a framework, this study investigated the biological and physiological links between depression and acoustic reflexes, and their potential usefulness for objectively assessing depression. Records of 52 randomly-selected patients who presented symptoms of depression were assessed to determine the relationship between depression and the contralateral acoustic reflex. The patients were both male and female, ranging in age from 23 to 84. Acoustic reflex threshold testing was assessed through ranges of frequencies using a tympanogram. The resulting individual average scores for the right ear and the left ear were then statistically tested against the medically accepted normal score using one-sample t tests. Evidence indicated that acoustic reflex abnormality may be concomitant with depression. These findings offer promising possibilities to researchers looking to develop a functional quantifiable assessment of patients who present with symptoms of depression. Addressing the wide variance of symptoms in patients may help mental health professionals determine which antidepressants to prescribe or if a patient is ready for a therapeutic process.

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No / Errors in the interpretation of diagnostic images in the emergency department are a persistent problem internationally. To address this issue, a number of risk reduction strategies have been suggested but only radiographer abnormality detection schemes (RADS) have been widely implemented in the UK. This study considers the variation in RADS operation and communication in light of technological advances and changes in service operation. A postal survey of all NHS hospitals operating either an Emergency Department or Minor Injury Unit and a diagnostic imaging (radiology) department (n = 510) was undertaken between July and August 2011. The questionnaire was designed to elicit information on emergency service provision and details of RADS. 325 questionnaires were returned (n = 325/510; 63.7%). The majority of sites (n = 288/325; 88.6%) operated a RADS with the majority (n = 227/288; 78.8%) employing a visual ‘flagging’ system as the only method of communication although symbols used were inconsistent and contradictory across sites. 61 sites communicated radiographer findings through a written proforma (paper or electronic) but this was run in conjunction with a flagging system at 50 sites. The majority of sites did not have guidance on the scope or operation of the ‘flagging’ or written communication system in use. RADS is an established clinical intervention to reduce errors in diagnostic image interpretation within the emergency setting. The lack of standardisation in communication processes and practices alongside the rapid adoption of technology has increased the potential for error and miscommunication.

The primary aim of this study was to determine the effectiveness of array-based technology for detecting and quantifying the presence of mosaicism. This aim was achieved by studying individuals having mosaicism for Down syndrome. SNP arrays were performed on 13 samples from individuals with mosaicism for trisomy 21, 13 samples from individuals with normal chromosome 21complements (negative controls) and 5 samples from individuals with full or partial trisomy 21 (positive controls). In addition, BAC arrays were processed on 6 samples from individuals with mosaicism for trisomy 21, 3 negative controls and 1 positive control. These studies have shown that array-based technology is effective for detecting mosaicism that is present in 20% or more cells with the results being consistent for both platforms. We also demonstrated the strength of array-based technology to identify previously unrecognized chromosomal mosaicism. A second aim of this study was to gain insight regarding the effect that trisomy 21 has on telomere attrition and the frequency of chromosomal instability. This study provides the first reported measure of both chromosome-specific telomere lengths and the frequency of acquired chromosome abnormalities in trisomic cells and isogenic euploid cells obtained from the same individuals. A chromosome-specific telomere length assay was performed on lymphocytes obtained from 24 young individuals with mosaicism for Down syndrome. While differences in overall telomere signal intensities were observed between the euploid and trisomic cells within a person, strikingly similar profiles for chromosome-specific telomere intensities were observed between the cell types within a person. Analyses were also completed on lymphoblast samples obtained from 8 older individuals with mosaicism for Down syndrome, including 5 individuals without dementia and 3 individuals with dementia. In the older study subjects, a significant inverse correlation was observed between telomere length and the frequency of micronuclei, suggesting that telomeric shortening is leading to an increased frequency of chromosomal instability, possibly through dicentric chromosome formation. However, further studies of more individuals, especially additional analyses of older individuals, are needed. These future studies may help to identify genomic regions of interest and serve to inform investigators of potential candidate genes in the etiology of dementia.

L’anormalité est associée de lege lata à diverses conditions du droit de la responsabilité civile comme la faute, la chose anormale ou le trouble anormal. Plus qu’une condition, elle apparaît davantage comme le fondement de la responsabilité civile extracontractuelle. Toutefois, l’anormalité est progressivement devenue une véritable source de confusion : se multiplient les situations dans lesquelles la responsabilité civile existe sans anormalité et celles dans lesquelles l’anormalité s’épanouit en dehors des frontières de ce droit. En quête d’unité, la responsabilité civile doit connaître des changements majeurs. Recentrer l’anormalité dans le fait générateur de responsabilité permettrait d’en révéler la singularité. Dans cette nouvelle présentation du droit de la responsabilité civile, l’anormalité du fait générateur ne constituerait pas uniquement le critère général de la matière extracontractuelle, elle deviendrait également le principal outil de sa mise en œuvre tant dans la désignation du responsable que dans la détermination de l’étendue de la réparation. L’anormalité, en sa qualité de standard juridique, constitue un instrument de mesure à la fois souple et normatif qui permettrait une adaptation constante de la responsabilité civile aux évolutions sociales et qui guiderait ses principales fonctions normative et indemnitaire. L’anormalité serait l’outil privilégié du juge grâce auquel il rendrait une décision équitable et proportionnée aux intérêts divergents du responsable et de la victime. Néanmoins, l’anormalité au service de la responsabilité civile met ce droit à l’épreuve : si elle présente d’indéniables forces, elle peut aussi être une source d’imprévisibilité face au déploiement de la casuistique. Cet instrument de mesure devra donc faire l’objet d’un encadrement rigoureux afin d’en assurer la solidité et l’immutabilité. L’anormalité pourrait ainsi devenir le repère du droit de la responsabilité civile extracontractuelle. / Abnormality is associated de lege lata with various conditions of civil liability law such as fault, an abnormal thing or abnormal disorder. More than a condition, it appears more as the basis of extra-contractual civil liability. However, the abnormality has gradually become a real source of confusion : there are many situations in which civil liability exists without abnormality, others in which abnormality spreads beyond the boundaries of this field of law. For the sake of homogeneity, civil liability must be significantly revised. Refocusing abnormality as the triggering event of civil liability would reveal its singularity. In this new presentation of the civil liability law, the abnormality of the triggering event would not only constitute the general criterion of the non-contractual matter, it would also become the main tool for its implementation both in the designation of the person responsible and in the determination of the extent of the compensation. Abnormality, as a legal standard, forms a measuring instrument that is both flexible and normative, allowing civil liability to be constantly adapted to social developments and guiding its main normative and compensatory functions. Framed that way, abnormality would be the judge's privileged tool by which he would make a decision that is fair and proportionate to the divergent interests of the person responsible and the victim. Nevertheless, the abnormality in support of civil liability have some flaws : despite its strengths, it may make the civil liability law unpredictable since case-by-case judgment becomes the norm. This tool will therefore have to be supervised by strict rules to ensure its solidity and immutability. Abnormality could become in this context the reference point of the extra-contractual civil liability law.