Thesis (Ph.D.)--University of Texas at Dallas, 2007. / Includes vita. Includes bibliographical references (leaves 264-270)

Orientador: Andrea Trevas Maciel-Guerra / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas / Made available in DSpace on 2018-07-24T09:48:09Z (GMT). No. of bitstreams: 1 Medeiros_CarlaCamposMuniz_M.pdf: 1761746 bytes, checksum: 7e09d731c8ab38bda3a22429426e74ef (MD5) Previous issue date: 1998 / Resumo: A síndrome de Tumer (ST), aberração dos cromos somos sexuais determinada pela monossomia total ou parcial do cromos somo X, caracteriza-se clinicamente por baixa estatura, hipogonadismo primário, e diversos sinais dismórficos e malformações. Está associada, ainda, a uma maior freqüência de patologias adquiridas, dentre elas a tireoidite auto-imune (T AI). A associação entre ST e T AI foi descrita por vários autores a partir de 1948, e a primeira descrição em criança foi publicada em 1964. Apesar disso, são poucos os trabalhos que procuram estimar a prevalência na faixa etária pediátrica, e seus resultados são divergentes. A patologia tireoideana nas pacientes com ST parece apresentar-se de maneira diferente da população normal, com baixa freqüência de bócio e sinais e sintomas pouco evidentes, o que dificulta o diagnóstico clínico. Alguns trabalhos sugerem, ainda, que seja mais freqüente nas portadoras de isocromossomo X. Nosso estudo teve como objetivo verificar a freqüência de doença tireoideana auto-im~e entre as pacientes com ST na faixa etária pediátrica, e pesquisar sua associação com as alterações citogenéticas. A amostra foi composta por 71 pacientes de O a 20 anos com diagnóstico citogenético de ST. A avaliação tireoideana compreendeu dosagens hormonais (hormônio estimulador da tireoíde ultra-sensível, tiroxina livre e total) e anticorpos antitireoideanos (antitireoperoxidase e antitireoglobulina), e foi verificada a presença ou não de tireomegalia. Dentre essas pacientes, 11 (15,5%) apresentavam hipotireoidismo, 17 (23,9%) tinham anticorpos positivos e 24 (33,8%) apresentavam tireomegalia. Não houve associação entre o tipo de alteração citogenética e distúrbios tireoideanos. Não foram encontradas patologias tireoideanas (tireomega1i~ hipotireoidismo ou anticorpos positivos) nessas pacientes antes dos 4 anos de idade; por outro lado, a freqüência foi máxima a partir dos 16 anos (hipotireoidismo: 29%; anticorpos positivos: 48%; tireomegalia: 48%). Além disso, a média de idade das pacientes com hipotireoidismo, anticorpos positivos e tireomegalia foi significativamente maior que a das pacientes sem estas alterações. A baixa freqüência de tireomegalia entre as pacientes com ST e hipotireoidismo sugeriu, ainda, que a forma atrófica da TAl seja, de fato, a mais comum. Esses achados, associados ao quadro clínico pouco evidente, reforçam a necessidade de se avaliar anualmente a função tireoid~ana e a presença de anticorpos em pacientes com síndrome de Tumer a partir dos 4 anos de idade, com intervalos menores a partir da adolescência / Abstract: Turner syndrome (TS) is a welI-known disorder of the sex chromosomes resulting in the loss of ali or part of an X chromosome, with wide phenotypic and cytogenetic variability. It is characterized by a female phenotype with short stature and gonadal dysgenesis, and also congenital malformations and dysmorphic signs. Patients with TS have an increased risk for some acquired diseases, particularly auto- immune thyroiditis (AIT). The association of AIT and TS is ftequent1y mentioned in the literature since 1948, but studies on its prevalence among paediatric patients are rare, and their results are widely different. When compared with normal girls with AIT, patients with TS have a milder clinical picture of hypothyroidism, and thyromegaly is less common, which makes diagnosis more diflicult. This work was carried out to study the ftequency of thyrôid disease among paediatric patients with TS. We evaluated 71 patients with TS whose ages ranged ftom O to 20 years, and whose diagnosis was stablished by karyotyping. Serum ftom those girls was obtained to evaluate the levels of ftee and total thyroxine (T4) and ultra-sensitive thyroid stimulating hormone (TSH) (fluoroimmunometric assays), and thyroid antibodies thyroglobulin and thyroperoxidase antibody tests (radioimmuno assays). The presence of thyromegaly was also recorded. Among those patients, 11 (15.5%) had hypothyroidism, 17 (23.9%) had thyroid antibodies, and 24 (33.8%) had thyromegaly. There was an increase on the prevalence of hypothyroidism, thyroid antibodies and thyromegaly with age: no thyroid pathology was observed before 4 years, and the highest ftequencies were observed after 16 years (hypothyroidism: 29%; thyroid antibodies: 48%; thyromegaly: 37.5%). Moreover, the mean age ofpatients with these thyroid pathologies was significant1y higher than that of patients without them. The .ftequency of thyromegaly among patients with hypothyroidism was low, which confirms previous observations that the atrophic form seems to be more common. The evaluation ofthyroid function must be done as a routine in alI cases ofTS, and the high prevalence of thyroid disease among paediatric patients reinforces the need for early diagnosis ofthis disorder / Mestrado / Mestre em Ciências Médicas

Orientador: Maricilda Palandi de Mello / Dissertação (mestrado) - Universidade Estadual de Campinas, Instituto de Biologia / Made available in DSpace on 2018-07-23T21:08:24Z (GMT). No. of bitstreams: 1 Assumpcao_JulianaGodoy_M.pdf: 4702103 bytes, checksum: 280d5cab693fa0542b835e852d403b19 (MD5) Previous issue date: 1998 / Mestrado

Síndrome de Turner é causada por alterações no cromossomo X. Afeta de 1:2000 a 1:3000 recém-nascidas femininas. Apesar de ser uma doença genética, aspectos como crescimento deficiente e insuficiência ovariana são de interesse da Endocrinologia. Manifestações clínicas importantes também incluem malformações cardíacas, linfáticas e renais e estão implicadas em maior morbidade da doença. Muito embora já tenha sido descrita há quase 80 anos, novos aspectos genéticos relacionados à etiopatogenia da doença vem sendo descritos. As abordagens terapêuticas relativas aos tratamentos hormonais têm sido discutidas e novos diagnósticos clínicos, incluindo alterações cardíacas, hepáticas e casos de trombose vem sendo descritos recentemente. / Turner Syndrome is caused by X chromosome anomalies. It affects 1:2000 to 1:3000 live born females. Some aspects of the syndrome such as growth failure and ovarian failure are of interest to the Endocrinologist. Other important features of this disorder include cardiac, lymphatic and renal malformations, the cause of high morbidity. Although recognized and described for almost 80 years, new genetic information has been added to update the understanding of the etiopathogenesis of the disorder. Hormone therapies and novel clinical findings, cardiac, hepatic and thrombotic, recently described, are reviewed.

Síndrome de Turner é causada por alterações no cromossomo X. Afeta de 1:2000 a 1:3000 recém-nascidas femininas. Apesar de ser uma doença genética, aspectos como crescimento deficiente e insuficiência ovariana são de interesse da Endocrinologia. Manifestações clínicas importantes também incluem malformações cardíacas, linfáticas e renais e estão implicadas em maior morbidade da doença. Muito embora já tenha sido descrita há quase 80 anos, novos aspectos genéticos relacionados à etiopatogenia da doença vem sendo descritos. As abordagens terapêuticas relativas aos tratamentos hormonais têm sido discutidas e novos diagnósticos clínicos, incluindo alterações cardíacas, hepáticas e casos de trombose vem sendo descritos recentemente. / Turner Syndrome is caused by X chromosome anomalies. It affects 1:2000 to 1:3000 live born females. Some aspects of the syndrome such as growth failure and ovarian failure are of interest to the Endocrinologist. Other important features of this disorder include cardiac, lymphatic and renal malformations, the cause of high morbidity. Although recognized and described for almost 80 years, new genetic information has been added to update the understanding of the etiopathogenesis of the disorder. Hormone therapies and novel clinical findings, cardiac, hepatic and thrombotic, recently described, are reviewed.

Síndrome de Turner é causada por alterações no cromossomo X. Afeta de 1:2000 a 1:3000 recém-nascidas femininas. Apesar de ser uma doença genética, aspectos como crescimento deficiente e insuficiência ovariana são de interesse da Endocrinologia. Manifestações clínicas importantes também incluem malformações cardíacas, linfáticas e renais e estão implicadas em maior morbidade da doença. Muito embora já tenha sido descrita há quase 80 anos, novos aspectos genéticos relacionados à etiopatogenia da doença vem sendo descritos. As abordagens terapêuticas relativas aos tratamentos hormonais têm sido discutidas e novos diagnósticos clínicos, incluindo alterações cardíacas, hepáticas e casos de trombose vem sendo descritos recentemente. / Turner Syndrome is caused by X chromosome anomalies. It affects 1:2000 to 1:3000 live born females. Some aspects of the syndrome such as growth failure and ovarian failure are of interest to the Endocrinologist. Other important features of this disorder include cardiac, lymphatic and renal malformations, the cause of high morbidity. Although recognized and described for almost 80 years, new genetic information has been added to update the understanding of the etiopathogenesis of the disorder. Hormone therapies and novel clinical findings, cardiac, hepatic and thrombotic, recently described, are reviewed.

My thesis comprises a creative and a critical component. The creative component is a novel entitled Ambergris. Ambergris in both its synthetic and natural states is a fixative to contain the evanescence of scent; it is also a metaphor for my novel which is set against the background of perfume making and deals with expatriates and migrants. Through the formal structure of the novel I hope to make a contribution to literature and to engage with critical and social concerns of the expatriate condition such as the place of home, the experience of longing, and whether or not one can really ‘belong’. My critical essay is entitled "The Smell of Dislocation: Olfactory Imagery in Selected Works of Janette Turner Hospital". The words 'olfactory imagery' may seem to be a contradiction in terms due to the difficulty of containing scent and the paucity of olfactory language. Scent, however, has strong links to memory and place, and through its non-visual and associative qualities may bypass language. I argue that engagement with the representation of scent in fiction can expand the current categories of formalist criticism found in narrative theory and Creative Writing pedagogy. My essay examines how Janette Turner Hospital employs olfactory imagery in her ‘Australian’ stories and novels to represent the recurring themes of dislocation underscoring the lives of many of her characters. Despite the difficulty of representing smell in fiction, I explore possibilities for thematic considerations triggered by the percept of smell as experienced by Janette Turner Hospital's characters, narrators, and possibly readers. Such explorations deal with the links between scent and memory, the liminality of both scent and the expatriate condition, as well as a narrative methodology which considers psychological and cognitive reactions to scent and culminates in their 'mapping' and the 'slippage' of personal associations. Both thesis components examine expatriate identity and approach its fictional representation through the filter of expatriate perceptions. Awareness by readers of such perceptions may serve to amplify their own appreciation of the dislocation of such identities in fiction, and in our current world of growing and even shifting diasporas.

Thesis--Zürich. / Vita. Bibliography: p. 101-110.

No description available.

My thesis comprises a creative and a critical component. The creative component is a novel entitled Ambergris. Ambergris in both its synthetic and natural states is a fixative to contain the evanescence of scent; it is also a metaphor for my novel which is set against the background of perfume making and deals with expatriates and migrants. Through the formal structure of the novel I hope to make a contribution to literature and to engage with critical and social concerns of the expatriate condition such as the place of home, the experience of longing, and whether or not one can really ‘belong’. My critical essay is entitled "The Smell of Dislocation: Olfactory Imagery in Selected Works of Janette Turner Hospital". The words 'olfactory imagery' may seem to be a contradiction in terms due to the difficulty of containing scent and the paucity of olfactory language. Scent, however, has strong links to memory and place, and through its non-visual and associative qualities may bypass language. I argue that engagement with the representation of scent in fiction can expand the current categories of formalist criticism found in narrative theory and Creative Writing pedagogy. My essay examines how Janette Turner Hospital employs olfactory imagery in her ‘Australian’ stories and novels to represent the recurring themes of dislocation underscoring the lives of many of her characters. Despite the difficulty of representing smell in fiction, I explore possibilities for thematic considerations triggered by the percept of smell as experienced by Janette Turner Hospital's characters, narrators, and possibly readers. Such explorations deal with the links between scent and memory, the liminality of both scent and the expatriate condition, as well as a narrative methodology which considers psychological and cognitive reactions to scent and culminates in their 'mapping' and the 'slippage' of personal associations. Both thesis components examine expatriate identity and approach its fictional representation through the filter of expatriate perceptions. Awareness by readers of such perceptions may serve to amplify their own appreciation of the dislocation of such identities in fiction, and in our current world of growing and even shifting diasporas.