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Wilson, Philip Kevin. "Surgeon #turned' physician : the career and writings of Daniel Turner (1667-1741)." Thesis, University College London (University of London), 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.336480.
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Elgar, Kate Louise. "Face processing in Turner syndrome." Thesis, University College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.404564.
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Jalenak, Maia. "Helen M. Turner, American impressionist." [S.l. : s.n.], 2003. http://etd.lsu.edu/docs/available/etd-0410103-231917/.
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Suzigan, Ligia Zuppi Conceição. "Avaliação das habilidades sociais na Sindrome de Turner." [s.n.], 2008. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308153.
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Orientadores: Andrea Trevas Maciel Guerra, Roberto Benedito de Paiva e SilvaTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas
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Resumo: Tendo em vista que vários estudos indicam dificuldades psicossociais em pacientes com síndrome de Turner (ST), este estudo objetivou avaliar as habilidades sociais (HS) em uma amostra dessa população. Foram avaliadas 52 pacientes (15 a 35 anos), 33 irmãs de pacientes (16 a 43 anos) e 30 mães, com Inventário de HS (IHS-Del-Prette) e entrevista individual. Houve bom desempenho das pacientes no IHS-Del-Prette, semelhante às irmãs e com melhor desempenho das pacientes em um fator (auto-exposição a desconhecidos e situações novas) (p=0,020). As pacientes mais velhas obtiveram melhores resultados no IHS-Del-Prette em relação às mais novas, diferentemente das irmãs. As mães relataram mais problemas de relacionamento familiar e social por parte das pacientes do que das irmãs. Houve poucas queixas espontâneas de relacionamento interpessoal, porém a maioria das pacientes entrevistadas deixou transparecer dificuldades de cunho social. Esses resultados sugerem que tais dificuldades não chegam a causar problemas sociais significativos e a torná-las insatisfeitas com suas vidas sociais, ou mesmo que não são capazes de perceber suas próprias dificuldades. O bom desempenho na avaliação de HS sugere ainda que são capazes de identificar habilidades adequadas nos contextos analisados e responder de maneira a obter bons resultados, mas que não necessariamente são capazes de utilizá-las na prática pela interferência de fatores como ansiedade e timidez. É possível, também, que tendam a responder ao IHS-Del-Prette de maneira socialmente desejável, mascarando suas reais dificuldades
Abstract: As psychosocial difficulties have been reported in several studies on Turner Syndrome (TS) patients, this study aimed to evaluate Social Skills (SS) in a sample of women with TS. Fifty-two patients aged 15 to 35 years, thirty-three sisters aged 16 to 43 and thirty mothers were evaluated by means of Del-Prette Social Skill Test (SST) and individual interviews. Patients' performance in SST was as good as their sisters' and even better in questions related to meeting new people and facing unknown situations.(p=0.020). Oldest patients had better scores in SST than younger patients, differently from their sisters. Mothers reported having more problems in family and social relationship with patients than with sisters. There were a few spontaneous complaints on interpersonal relationship, nevertheless in the interview many patients implied having social difficulties. These results suggest that such difficulties may not cause them major social problems or make them unhappy with their social lives, or even that patients are not able to perceive their own difficulties. Good performance in SST also suggests that patients can identify adequate skills in presented situations and answer in a way to obtain good scores, but they may not necessarily use their skills due to other factors like anxiety and shyness. They may also have a tendency to answer the SST in a way they consider socially desirable, masking their real difficulties
Doutorado
Saude da Criança e do Adolescente
Doutor em Saude da Criança e do Adolescente
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Sacks, Dan. "The historical traditions of Nat Turner." Diss., Connect to the thesis, 2008. http://hdl.handle.net/10066/1394.
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Schonhoff, Peter. "Klinisches Management des Ullrich-Turner-Syndroms." Doctoral thesis, Universitätsbibliothek Leipzig, 2012. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-85872.
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In dieser retrospektiven klinischen Studie wurden die Akten von 89 Patientinnen mit Ullrich-Turner-Syndrom ausgewertet, die zwischen 1974 und 2004 in der Universitätsklinik und Poliklinik für Kinder und Jugendliche in Leipzig behandelt worden sind. Berücksichtigt wurde die Verteilung der Karyotypen im Patientenkollektiv sowie das Auftreten von assoziierten Begleiterkrankungen. Das Alter bei Diagnosestellung, die Größe bei Diagnosestellung und die Gründe für die Verdachtsdiagnose Ullrich-Turner-Syndrom wurden analysiert. Darüber hinaus untersuchte der Autor die durchgeführten Maßnahmen zur Pubertätsinduktion im Hinblick auf ihren Beginn und Erfolg sowie deren Einfluss auf die Wachstumraten.
Gut 50% der Patientinnen besaßen den Karyotyp 45,X, die anderen Karyotypen setzten sich aus Mosaiken zusammen. Assoziierte Begleiterkrankungen waren im Patientenkollektiv unterrepräsentiert. Das durchschnittliche Alter bei Diagnosestellung betrug 8,21 Jahre, es fiel während des Beobachtungszeitraumes signifikant ab. Der durchschnittliche Größen-SDS zum Zeitpunkt der Diagnosestellung betrug -2,86. Es wurde, verglichen mit den Empfehlungen der Leitlinien, eine verspätete Diagnosestellung konstatiert. Die Pubertätsinduktion begann mit durchschnittlich 13,93 Jahren mit einer signifikanten Reduktion im Verlauf. Die Dauer vom Beginn der Pubertätsinduktion bis zum Eintreten der Menarche betrug 2,51 Jahre, die Dauer vom Tannerstadium B2 zum Stadium B5 betrug gut 27 Monate. Eine Menarche wurde bei nur 65% der Patientinnen sicher beobachtet.
Die Ergebnisse wurden kritisch überprüft und in den Kontext anderer Studien eingeordnet. Aus den Ergebnissen wurde gefolgert, dass das Ullrich-Turner-Syndrom, trotz einer positiven Entwicklung in den letzten Jahren, noch immer zu spät diagnostiziert wurde. Die Pubertätsinduktion verlief trotz der verzögerten Diagnosestellung hinsichtlich der Entwicklung der Tannerstadien erfolgreich. Demgegenüber blieb die Induktion der Menarche nur mäßig erfolgreich. Eine Beeinflussung der Wachstumraten durch die Östrogentherapie wurde nicht beobachtet.
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Tolley, Rebecca. "Bennie Lee Sinclair, Janette Turner Hospital." Digital Commons @ East Tennessee State University, 2014. https://www.amzn.com/1611173469.
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Book Summary:The South Carolina Encyclopedia Guide to South Carolina Writers expands the range of writers included in the landmark South Carolina Encyclopedia. This guide updates the entries on writers featured in the original encyclopedia and augments that list substantially with dozens of new essays on additional authors from the late eighteenth century to the present who have contributed to the Palmetto State's distinctive literary heritage. Each profile in this concise reference includes essential biographical facts and critical assessments to place the featured writers in the larger context of South Carolina's literary tradition. The guide comprises 128 entries written by more than sixty-nine literary scholars, and it also highlights the sixty-nine writers inducted thus far into the South Carolina Academy of Authors, which serves as the state's literary hall of fame. Rich in natural beauty and historic complexity, South Carolina has long been a source of inspiration for writers. The talented novelists, essayists, poets, playwrights, journalists, historians, and other writers featured here represent the countless individuals who have shared tales and lore of South Carolina. The guide includes a foreword by George Singleton, author of two novels, four short story collections and one nonfiction book, and a 2010 inductee of the South Carolina Academy of Authors.
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Benzing, Tobias. "Ritual und Sakrament : Liminalität bei Victor Turner /." Frankfurt am Main : P. Lang, 2007. http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&doc_number=015596791&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA.
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Nelson, Megan Jane. "Francis Turner Palgrave and The golden treasury." Thesis, University of British Columbia, 1985. http://hdl.handle.net/2429/25947.
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In spite of the enormous resurgence of critical interest in minor figures of the Victorian era over the last twenty years, almost no attention has been paid to Francis Turner Palgrave (1824-1897). In his own age, he was respected as a man of letters, educator, art critic, poet, friend of Alfred Tennyson, and editor of The Golden Treasury of the Best Songs and Lyrical Poems in the English Language, first published in 1861. This dissertation attempts to make good that neglect in two ways: firstly, through an analysis of his life and times, an assessment of his writings as an art and literary critic, an examination of his considerable corpus of original poetry, and the compilation of the first comprehensive bibliography of his own publications. This bibliography is accompanied by a checklist of manuscript sources and a listing of secondary materials about Palgrave himself.
Secondly, the dissertation makes the first systematic examination of the Golden Treasury, its genesis and editing principles, its critical reception, and its publication history. This detailed study is accompanied by eight appendices giving bibliographical information about the form and contents of the four major editions of the Treasury published in Palgrave's lifetime, along with a listing of sources and a checklist of contemporary reviews.
Throughout the dissertation, the intellectual concerns that led Palgrave to develop a set of fixed principles for judging all art and literature are examined in order to establish that, like his friend Matthew Arnold, he was a committed Hellenist, who insisted that all poetry conform to what he perceived as the "Homeric" ideals of simplicity and unadorned language. The Golden Treasury, in particular, is based on an ideal of "unity" which Palgrave used to justify the many editorial excisions and variant readings which are such a feature of the volume's texts.
It is impossible to account fully for the unprecedented success of the Golden Treasury, which has continued to be reprinted in a variety of editions from the time of its first publication until the present, but one of its most important features is that it is the first anthology of English lyric poetry to declare itself complete: Palgrave insisted that the book contained all the best lyrics in the English language. Just as significant is the fact that it is the first anthology by a professional educator who refused to make his selections on the basis of their morally improving qualities, but relied instead on poetic excellence alone.
"Francis Turner Palgrave and The Golden Treasury," therefore, attempts to account for the extraordinary success of the Golden Treasury and to examine one of the nineteenth-century's more interesting minor figures, one who was a friend of some of the most brilliant men of his day, including Jowett, Browning, Arnold, Clough, and Gladstone; a recognised minor poet of the "contemplative" school which included Arnold and Clough; and a well-known champion of the Pre-Raphaelite painters.Arts, Faculty of
English, Department of
Graduate
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Elmqvist, Stenberg Annika. "Ear and hearing problems in Turner syndrome /." Stockholm, 2001. http://diss.kib.ki.se/2001/91-628-4871-2/.
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Suzigan, Ligia Zuppi Conceição. "Sindrome de Turner : a perspectiva das pacientes." [s.n.], 2004. http://repositorio.unicamp.br/jspui/handle/REPOSIP/310545.
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Orientadores: Andrea Trevas Maciel Guerra, Roberto Benedito de Paiva e SilvaDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas
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Resumo: Objetivo: Identificar a percepção das pacientes com Síndrome de Turner (ST) a respeito de sua condição. Casuística e Método: Entrevistas individuais com 36 pacientes com ST entre 15 e 25 anos e mais de 2 anos de acompanhamento, abordando temas referentes ao impacto no momento do diagnóstico, compreensão a respeito da ST, seu impacto sobre a vida atual e expectativas de futuro. Resultados: Apenas 1/3 compreendeu o diagnóstico de ST imediatamente, e o sentimento associado a esse momento foi freqüentemente neutro (17) ou de preocupação (12). Cerca de 1/3 não soube explicar a etiologia da ST, não relacionou a ela os sintomas que apresenta e(ou) acredita haver cura. Em sua vida atual, embora a grande maioria declare que a ST não interfere em sua vida (2/3) e se considere feliz (3/4), em mais da metade dos casos há evidências de dificuldades de interação social e de relacionamento amoroso, baixa auto-estima, insatisfação com a aparência física, em particular a baixa estatura e sofrimento com a questão da esterilidade. Suas expectativas de futuro estão predominantemente ligadas a trabalho e estudo; mesmo estando com 19 anos, em média, uma em cada duas ainda espera crescer. Conclusão: Além da abordagem médica da ST, é fundamental que o conhecimento das pacientes a respeito dessa síndrome e as questões referentes a esterilidade, baixa estatura, auto-imagem e interações sociais sejam alvo de atenção especial e contínua a partir do momento do diagnóstico; a situação ideal seria a de atuação de um psicólogo juntamente com a equipe médica
Abstract: Objective: To identify the perception of patients with Turner syndrome (TS) about their condition. Methodology: Thirty-six women with TS, aged between 15 and 25 years and with over two years of medical follow-up, were individually interviewed about: the impact of TS at the moment of the diagnosis, their understanding of the syndrome, its effect in their current lives and their expectations for the future. Results: Only one third of the patients understood the diagnosis immediately and their feelings associated to that moment were neutral (17) or concerned (12). About one third of the interviewed women were unable to explain the etiology of TS, they have not related their symptoms with TS and/or believe there might be a cure for it. Although most say that the syndrome has no interference in their current lives (2/3) and that they consider themselves happy persons (3/4), in more than half of the interviews there are evidences of difficulties with social interactions and love relationships, low self-esteem, dissatisfaction with their physical appearances, mainly short stature, and worries about infertility. Their hopes for the future refer mainly to study and have a job; growing up expectation was mentioned by one in two of the women, in spite of their mean age of 19 years. Conclusion: Besides medical treatment, it is important that the knowledge of the patients about the syndrome and some issues as infertility, short stature, self-image and social interactions receive proper and continuous attention from the moment of the diagnosis. The ideal situation should be a joint-action of the psychologist and the medical team
Mestrado
Saude da Criança e do Adolescente
Mestre em Saude da Criança e do Adolescente
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Nicoletti, Annalisa <1974>. "Analisi genetica nella sindrome di Ullrich-Turner." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/585/1/nicoletti.pdf.
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Nicoletti, Annalisa <1974>. "Analisi genetica nella sindrome di Ullrich-Turner." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/585/.
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Wähnert, Miriam [Verfasser], Robert [Akademischer Betreuer] Turner, Robert [Gutachter] Turner, and David W. [Gutachter] Shattuck. "Modelling cortical laminae with 7T magnetic resonance imaging / Miriam Wähnert ; Gutachter: Robert Turner, David W. Shattuck ; Betreuer: Robert Turner." Leipzig : Universitätsbibliothek Leipzig, 2015. http://d-nb.info/1239422636/34.
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Eichner, Cornelius [Verfasser], Robert [Akademischer Betreuer] Turner, Robert [Gutachter] Turner, and Klaus [Gutachter] Scheffler. "Slice-Accelerated Magnetic Resonance Imaging : Slice-AcceleratedMagnetic Resonance Imaging / Cornelius Eichner ; Gutachter: Robert Turner, Klaus Scheffler ; Betreuer: Robert Turner." Leipzig : Universitätsbibliothek Leipzig, 2015. http://d-nb.info/1239738307/34.
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VRIGNAUD, PERON ISABELLE. "A propos de neuf observations de syndrome de turner : revue de la litterature et aspects therapeutiques actuels." Nantes, 1989. http://www.theses.fr/1989NANT023M.
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Jung, Monica de Paula. "Síndrome de Turner revisitada: pesquisa bibliográfica e reconstituições narrativas." Instituto Fernandes Figueira, 2004. https://www.arca.fiocruz.br/handle/icict/3456.
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Previous issue date: 2004Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Ensino. Programa de Pós-Graduação em Saúde da Criança e da Mulher. Rio de Janeiro, RJ, Brasil
Objetivo traçar um painel atual, através da reconstituição narrativa de relatos médicos, sobre as pesquisas clínicas e genéticas acerca da síndrome de Turner. Para tal optou-se por uma pesquisa bibliográfica em um banco de dados,Medline, entre os anos 2000 e 2002 com enfoque para: as características clínicas semiológicas do diagnóstico precoce; as propostas atuais de diagnóstico citogenético/molecular; as opções de tratamento e as intercorrências clínicas. Este estudo também realizaou uma entrevista, aberta, com Dr. José Carlos Cabral de Almeida, com o objetivo de reconstruir o raciocínio empreendido pela equipe que publicou o artigo pioneiro desvendando a etiologia genética da síndrome de Turner. Além disto, apresenta quatro relatos de casos de pacientes tratadas no ambulatório de genética do Instituto Estadual de Diabetes e Endocrinologia Luiz Capriglione-IEDE.No que tange à pesquisa bibliográfica os trabalhos apontaram: a preocupação com o atraso no diagnóstico; a utilização das novas técnicas de pesquisa de mosaicismos crípticos; o uso consensual do hormônio do crescimento, porém ainda sendo discutidos sua dosagem, seu tempo de início e sua associação com outras medicações; e as incidências das doenças associadas como hipertensão arterial, diabetes mellitus e hipotiroidismo. A entrevista demonstrou que o raciocínio empreendido foi hipotético dedutivo, baseado na clínica da paciente e na visualização dos cromossomos através do estudo citogenético.Os relatos de casos mostraram que o tratamento utilizado no IEDE é condizente com a literatura mundial, concordando com a literatura consultada que aponta um retardo no diagnóstico destas pacientes.
The study aims to present an up-to-date picture of clinical and genetic researches about Turner's syndrome (ST). To achieve thi goal a bibliographical research in Medline comprising published articles between 2000 and 2002 was perfomed. The focus was: principal clinical characteristics for early diagnosis; mostly recent results of molecular cytogenetics and molecular studies applied in diagnosis; treatment options; clinical complications, and associated diseases. It was also perfomed an open ended interview with Dr. José Carlos Cabral de Almeida in order to reconstruct the scientific reasoning that led to the estabilishment of the genetic base of Turner's syndrome. And at last, by analyzing patients charts belonging to the Genetic Outpatient Care Unit of Instituto Estadual de Diabetes e Endocrinologia Luiz Capriglione (IEDE) four cases of ST were described. The bibliographical research showed: a) there is a world wide commom preocupation with the delayed diagnosis; b) the importance of molecular/cytogenetics techniques applied to the investigation of cryptic mosaicism; c) there is consensus about the use of growth hormone, but discrepancies about the dosage and its association with other drugs, and also about the time for its initiation and, finally, the clinical complications and associated disorders. The scientific reasoning was grounded on the hypothetical deductive method, making use of clinical experience and cytogenetics techniques. The cases report showed that treatment of Turner's syndrome patients in IEDE follows the literature, highlighting the delayed diagnosis.
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Dubus, Michèle. "Syndrome de turner avec menstruations spontanees et fertilite." Lille 2, 1988. http://www.theses.fr/1988LIL2M321.
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Ventura, Vânia Patrícia da Silva. "Pesquisa do cromossoma Y na síndrome de Turner." Master's thesis, Universidade de Aveiro, 2010. http://hdl.handle.net/10773/7347.
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Mestrado em Biologia Molecular e CelularA Síndrome de Turner é uma cromossomopatia que consiste na presença de um único cromossoma X normal na mulher. A incidência desta patologia é de aproximadamente 1 em cada 2500 nados vivos femininos. Para além da monossomia do cromossoma X, podem co-existir outras linhas celulares com dois ou mais cromossomas X, cromossomas com anomalias estruturais e ainda a presença do cromossoma Y, completo ou parte dele. A presença deste cromossoma nas pacientes com Síndrome de Turner representa um risco aumentado (15-30%) de desenvolvimento de gonadoblastoma. No presente trabalho propõe-se determinar a presença de genes mapeados no cromossoma Y (SRY, TSPY, DDX3Y e HSFY) em indivíduos com Síndrome de Turner e avaliar a importância de um teste molecular para a detecção de sequências do cromossoma Y, que escapam à detecção por técnicas de citogenética convencional. Detectou-se, usando a técnica de PCR, uma frequência de 4,08% de amostras com material do cromossoma Y presente em linhas celulares minoritárias. Pode pois concluir-se que este tipo de análise constitui um método complementar de diagnóstico contribuindo assim para um diagnóstico mais preciso.
Turner syndrome is a chromosomal disorder characterized by the presence of a single normal X chromosome in women. The incidence of this disease is approximately 1 in 2500 live female births. Additionally the X chromosome monosomy, other cell lines could coexist, containing two or more X chromosomes, chromosomes with structural abnormalities and even cell lines containing the Y chromosome, or part of it. The presence of this chromosome in patients with Turner syndrome represents an increased risk (15-30%) of developing gonadoblastoma. The aim of the present study is to determine the presence of genes mapped on Y chromosome , namely SRY, TSPY, DDX3Y and HSFY, in Turner syndrome patients and evaluate the importance of a molecular test for detection of Y chromosome sequences, which escape to detection by conventional cytogenetic techniques. A frequency of 4.08% of samples with Y chromosome material present in minority cell lines was detected using the PCR technique. It can be assumed that this type of analysis is a complementary diagnostic method thus contributing to a more accurate clinical diagnosis.
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Bezerra, Alessandra Teixeira. "Achados audiológicos em pacientes com Síndrome de Turner." reponame:Repositório Institucional da UFC, 2017. http://www.repositorio.ufc.br/handle/riufc/24188.
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BEZERRA, A,T. Achados audiológicos em pacientes com Síndrome de Turner. 2017. 81 p. Dissertação (Mestrado em Ciências Médicas) - Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, 2017.Submitted by Ivone Sousa (ppgcm.ufc@gmail.com) on 2017-07-21T14:22:10Z No. of bitstreams: 1 2017_Dissertação_atb.pdf: 1899856 bytes, checksum: a07f6224dea243328a8912329ecccd7a (MD5)
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Introduction. Patients with Turner syndrome (TS) may present early hearing loss (HL) with impairment in social life and quality of life. The prevalence of hearing disorders in TS has been described in different countries, however the data in our country are still poorly understood. Conductive hearing loss is related to recurrent infections, but the mechanisms involved with sensorineural hearing loss (SNHL) have not yet been fully elucidated. Aim. To describe the audiological profile of TS patients, determine the prevalence, type and degree of HL, and correlate the findings with age, karyotype, components of the metabolic syndrome, and growth hormone (GH) / estrogen (E) therapy. Methods. A cross-sectional observational study evaluating 43 patients (24.2 ± 10.9) with a diagnosis of TS confirmed by karyotype. Clinical and biochemical data obtained through a questionnaire and review of medical records were correlated with findings of otoscopy, tonal audiometry, vocal and imitanciometry. The relationship between the threshold means in the frequencies of 0.5, 1 and 2 KHz (PTA-3) and 0.5, 1, 2 and 4 KHz (PTA-4) and the other variables were determined by the linear regression model Generalized with Gamma Log function (Sidak significance test, p <0.05), in normal ears or with SNHL. Results. Auditory alterations were detected in 53% of the patients. The prevalence of HL was higher in adult patients (46.3%) . PASN was the most prevalent type (66%) (mean 31 years), especially in adults, not treated with GH in childhood. PTA-3 and PTA-4 were significantly lower (P = 0.001) in those exposed to GH / E therapy than in the non-GH treated group. No relation was observed with the karyotype. Conclusions. SNHL was more common in patients not treated with GH and for the first time it was demonstrated that GH therapy may have a beneficial effect on hearing in patients with TS.
Introdução. Portadoras da síndrome de Turner (ST) podem apresentar perda auditiva (PA) precoce com prejuízo no convívio social e na qualidade de vida. A prevalência das alterações audiológicas em portadoras da ST têm sido descritas em diferentes países, no entanto os dados em nosso meio ainda são pouco conhecidos. A perda auditiva condutiva está relacionada a infecções recorrentes, mas os mecanismos envolvidos com a perda auditiva sensorioneural (PASN) ainda não foram completamente esclarecidos. Objetivo. Descrever o perfil audiológico de pacientes com ST, determinar a prevalência, tipo e grau de PA, e correlacionar os achados com idade, cariótipo, componentes da síndrome metabólica e terapia com hormônio de crescimento (GH) / estrógeno (E). Metodologia. Estudo observacional, transversal que avaliou 43 pacientes com idade média de 24,2 ± 10,9 (variação:4,7 a 60,9 anos) com diagnóstico de ST confirmado por cariótipo. Dados clínicos e bioquímicos obtidos por meio de questionário e revisão de prontuários foram correlacionados com achados de otoscopia, audiometria tonal, vocal e imitanciometria. As relações entre as médias dos limiares nas frequências tonais de 0,5, 1 e 2 KHz (FT-3) e 0,5, 1, 2 e 4 KHz (FT-4) e as demais variáveis foram determinadas pelo modelo de regressão linear generalizada com função Gamma Log (teste de significância de Sidak, p <0,05), em orelhas normais ou com PASN. Resultados. Alterações auditivas foram detectadas em 53% das pacientes. A prevalência de PA foi maior em pacientes adultas (46,3%). PASN foi o tipo mais prevalente (66%) (média de 31 anos), especialmente em adultas, não tratadas com GH na infância. Em FT-3 e FT-4 os limiares foram significativamente menores (P = 0,001) naquelas expostas à terapia com GH/E do que no grupo não tratado com GH. Não se observou relação com o cariótipo. Conclusões. PASN foi mais comum em pacientes não tratadas com GH e pela primeira vez foi demonstrado que a terapia com GH pode ter efeito benéfico sobre a audição em pacientes com ST.
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Zilz, Cristiane Kopacek. "Síndrome de Turner, trombose de veia porta e fator VIII." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2006. http://hdl.handle.net/10183/8495.
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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.
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Santos, Gisele Guimarães. "Estudo da microarquitetura óssea, do estado nutricional e de fatores farmacológicos na síndrome de Turner /." Araraquara : [s.n.], 2012. http://hdl.handle.net/11449/88641.
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Orientador: Anderson Marliere NavarroBanca: Alceu Afonso Jordão Junior
Banca: Vivian Marques Miguel Suen
Resumo: A síndrome de Turner (ST) ocorre em indivíduos do sexo feminino, em uma proporção de aproximadamente 1:2000 a 1:3000 nativivos e caracteriza-se pela presença de um cromossomo X normal e perda parcial ou total do outro cromossomo sexual. O hipoestrogenismo é um dos principais fatores associado à osteopenia e osteoporose. O objetivo do presente estudo foi avaliar a microarquitetura óssea e a influência do estado nutricional e de algumas classes de medicamentos na saúde óssea de pacientes com ST. Foi realizado um estudo transversal no qual participaram 56 voluntárias com idade média de 24,9 anos (entre 10,1 e 59,8 anos). Para avaliação nutricional, foram realizadas medidas antropométricas, de composição corporal, análises bioquímicas e avaliação do consumo alimentar. A avaliação óssea foi realizada por meio de osteossonografia das falanges. Os resultados obtidos foram analisados em dois diferentes estudos, os quais foram escritos na forma de artigo científico, sendo que o primeiro artigo abordou o efeito do estado nutricional na saúde óssea de pacientes com ST e o segundo artigo abordou o efeito de medicamentos sobre o metabolismo ósseo, bem como da TRH e do GH na saúde óssea das pacientes com ST. Ao analisar a microarquitetura óssea, foi possível observar que 59% das participantes com quantidade óssea normal (AD-SoS> 2054m/s) estavam com qualidade óssea inadequada (0,69 uL ≥ UBPI ≥ 0,44uL), apresentando aumento do risco para osteoporose. Não houve correlação entre os parâmetros nutricionais com a quantidade e a qualidade ósseas. O uso de medicamentos com efeito sobre o metabolismo ósseo, bem como a TRH e o GH não apresentaram influência sobre a quantidade (AD-SoS) e a qualidade ósseas (UBPI)
Abstract: Turner syndrome (TS) occurs in females in a ratio of approximately 1:2000 to 1:3000 live births and is characterized by the presence of a normal X chromosome and partial or complete loss of the other sex chromosome. The hypoestrogenism is one of the main factors associated with osteopenia and osteoporosis. The aim of this study was to assess bone microarchitecture and the influence of nutritional status and some classes of drugs on bone health of patients with TS. We conducted a cross-sectional study in which 56 volunteers participated with a mean age of 24.9 years (between 10.1 and 59.8 years). For nutritional assessment were conducted anthropometric measurements, body composition, biochemical and food intake assessment. A bone assessment was evaluate by phalangeal quantitative osteosonography. The results were analyzed in two different studies which were written in the form of a scientific paper, and the first article evaluated effect of nutritional status on bone health of patients with TS and the second article evaluated the effect of medication on bone metabolism as well as TRH and GH in bone health of patients with TS. When we analyze the bone microarchitecture of patients, we observed that 59% of patients were with normal bone quantity (AD-SoS>2054 m/s) had inadequate bone quality (0,69 uL ≥ UBPI ≥ 0,44 uL), presenting increased risk for osteoporosis. There was no correlation between nutritional parameters with the quantity and quality of bone. The use of drugs with effects on bone metabolism, as well as TRH and GH had no influence on the amount (AD-SoS) and bone quality (UBPI)
Mestre
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Turner, Bryan William. "Testing the local diachroneity of the terrestrial lithostratigraphic KPg Boundary, Northern Montana." Thesis, Montana State University, 2010. http://etd.lib.montana.edu/etd/2010/turner/TurnerB0510.pdf.
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The lithostratigraphic KPg boundary separating the underlying Cretaceous Hell Creek Formation from overlying strata of the Paleogene Fort Union Formation in north-central Montana is delineated at the lowermost coal (Z-coal) at the base of the Fort Union. Since meandering stream floodplain coals record deposition in areally-restricted, meanderbelt environments, the lithostratigraphic KPg boundary is diachronous. To test this assertion, a chronostratigraphic framework, developed using radiometrically dated (â´â° Ar-³⹠Ar) ash horizons, is utilized to examine the physical stratigraphic relations between strata of the uppermost Hell Creek and lowermost Fort Union Formations. The uppermost (3m) Hell Creek Formation consists of massive mudrock with sporadic coal stringers. The lowermost (3m) Fort Union Formation consists of massive mudrocks with the discontinuous Z-coal at its base. No sedimentary structures are present. Three ash horizons, distinguished in the field by color and mineralogy, were used to establish correlations. The lower and middle ashes have been dated at 65.00 ± 0.05 Ma and 64.95 ± 0.05 Ma, respectively (Swisher et al., 1993). Six sites are studied. From east to west, these are: Mossbrucker, Lerbekmo, Pearl, Bone Hollow, Hell's Hollow, and Nirvana. Each site was trenched 3 meters above and below the Z-coal and lithofacies described every centimeter. The lithostratigraphic boundary at Lerbekmo is 55cm below the chronostratigraphic framework, 56 cm below at Mossbrucker, 9 cm above at Pearl, 258 cm below at Nirvana, and was not preserved at Bone Hollow and Hell's Hollow. Wheeler diagrams of these sections suggest the Z-coal is stratigraphically lower in the west and higher in the eastern sections. These observations demonstrate that the lithostratigraphic KPg boundary is diachronous implying portions of the Hell Creek are Paleogene in age and portions of the Fort Union Cretaceous in age. Furthermore, this demonstrates that lithostratigraphy provides insufficient constraints on determining chronostratigraphic position. Localized lithostratigraphic correlations of the terrestrial sections are also complicated by subtle diastems. Since floodplain deposition is centralized in the floodplain trough (Pizzuto et al., 2008) and a single flood event has limited areal extent (Aalto et al., 2003), the precision of lithostratigraphic correlations is limited without a chronostratigraphic framework of isochronous event beds.
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Turner, Patricia Kellie. "The role of multi-drug resistance associated protein 4 and P-glycoprotein in resistance of neuroblastoma to topotecan and irinotecan." View the abstract Download the full-text PDF version, 2007. http://etd.utmem.edu/ABSTRACTS/2007-018-Turner-index.html.
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Thesis (Ph.D. )--University of Tennessee Health Science Center, 2007.Title from title page screen (viewed on June 20, 2008 ). Research advisor: Clinton Stewart, Pharm.D. Document formatted into pages (xvi, 129 p. : ill.). Vita. Abstract. Includes bibliographical references (p. 112-129).
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Gowing, Georgia. "The sword-swallower on Park Street : reality and illusion in the work of Janette Turner Hospital /." Title page and introduction only, 1993. http://web4.library.adelaide.edu.au/theses/09AR/09arg723.pdf.
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Kaye, Lorien. "Towards social and political change : building on the writings of Janette Turner Hospital /." Title page and introduction only, 1993. http://web4.library.adelaide.edu.au/theses/09AR/09ark237.pdf.
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Turner, Caroline. "Cytogenetic and molecular studies of ring (X) chromosomes." Thesis, University of Southampton, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.297376.
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Ros, Cerro Cristina. "Alteracions neurosensorials en dones adultes amb Síndrome de Turner." Doctoral thesis, Universitat de Barcelona, 2013. http://hdl.handle.net/10803/145247.
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ANTECEDENTS: La síndrome de Turner (ST) és una de malalties cromosòmiques més freqüents, i és deguda a la pèrdua total o parcial d’un cromosoma X. Els signes cardinals són la insuficiència gonadal i la talla baixa, però altres comorbiditats s’associen a la síndrome, com les malalties cardiovasculars, immunològiques, malformacions renals o l’osteoporosi. Alteracions neurosensorials han estat relacionades amb la ST, com diferents patrons d’hipoacúsia i disfuncions olfactòries i gustatives. L’hipoestrogenisme i la manca d’alguns gens localitzats als cromosomes sexuals es postulen com a causa d’aquestes comorbiditats.
HIPÒTESI: Les alteracions neurosensorials vinculades a la ST són degudes a les alteracions cromosòmiques que presenten aquestes pacients, i varien segons el grau d’afectació cariotípica. Els efectes produïts per l’hipoestrogenisme congènit són reversibles amb teràpia hormonal substitutiva.
OBJECTIUS: Definir el tipus i la causa de la hipoacúsia descrita en dones amb ST a l’edat adulta, així com esbrinar si existeixen alteracions olfactòries i gustatives associades a aquesta síndrome. Demostrar que pacients amb altres hipogonadismes congènits sense alteració cariotípica no presenten aquestes comorbiditats.
METODOLOGIA: es va dissenyar un estudi analític observacional de tres cohorts independents, amb dones entre 20 i 50 anys: dones amb ST; dones amb altres hipogonadismes congènits i cariotip normal; i un grup control amb dones sanes que prenien contracepció hormonal. Les dones amb hipogonadismes es tractaven amb teràpia hormonal substitutiva. Es van recollir dades clíniques, presència d’estigmes físics de la ST i antecedents de comorbiditats associades. Les pacients van omplir dos qüestionaris, un de qualitat de vida (SF-36) i l’altre de sexualitat (FSFI). Per a estudiar l’audició, es va realitzar una microotoscòpia, una audiometria estàndard, i uns potencials evocats auditius als hipogonadismes. Amb el test validat BAST-24 es va avaluar la sensibilitat i sensorialitat olfactòria i la gustometria.
RESULTATS: Una pèrdua auditiva progressiva precoç s’associa a la ST, essent l’hipoacúsia neurosensorial el patró més freqüent en les dones adultes. L’etiologia d’aquesta hipoacúsia és heterogènia, i l’edat, la genètica i l’antecedent d’otitis mitjana crònica recurrent durant la infància són factors influents.
Existeixen alteracions de sensorialitat olfactòria associades a la ST, de fisiopatologia desconeguda. Malgrat que la sensibilitat olfactòria no sembla afectada en aquestes pacients, les hormones sexuals tenen un paper en la percepció de la intensitat i la irritabilitat de les olors. No semblen existir alteracions en el sentit del gust en les pacients amb ST i altres hipogonadismes congènits.
Les pacients amb ST i altres hipogonadismes congènits presenten pitjors puntuacions ens els dominis físics dels qüestionaris de qualitat de vida, comparades amb controls sans. Només la meitat de les dones amb ST refereixen mantenir qualsevol tipus d’activitat sexual i, les sexualment actives, només puntuen baix en el domini d’excitació. La funció sexual no es correlaciona amb les característiques físiques o les comorbiditats associades a la ST, tot i que les dones sexualment actives presenten alçades superiors. Les dones amb altres hipogonadismes congènits presenten puntuacions baixes en gairebé tots els dominis de la funció sexual, malgrat el tractament hormonal.
El cultiu de cèl•lules urotelials a partir de mostres d’orina presenta dificultats i limitacions tècniques, a més d’una pèrdua d’informació cromosòmica que empitjora la seva correlació amb el fenotip. Existeix una correlació parcial entre el cariotip en sang i el fenotip.
IMPLICACIONS CLÍNIQUES:
- Cal comptar fins a 50 metafases en els estudis citogenètics en sospita de fallida ovàrica.
- Cal fer audiometries periòdiques a la ST durant l’edat adulta.
- Cal investigar la qualitat de vida i la funció sexual de les pacients amb hipogonadismes.
- Es recomana que les pacients amb hipogonadismes congènits es visitin en unitats especialitzades.HYPOTHESIS: Neurosensorial impairment related to Turner’s syndrome (TS) are due to chromosomic disorders characteristic of these patients and the degree of impariment is related with the degree of the karyotypic disorder. The consequences of hypoestrogenism are reversible with substitutive hormonal therapy. AIM: To define the origin of the hearing loss observed in TS women in adulthood; to assess whether there are olfactory and gustatory impairments related to this syndrome; and to demonstrate that patients with other congenital hypogonadism without karyotypic disorder do not show such comorbities. METHODS: Three cohort of women were studied; TS women; women with other congenital hypogonadisms, healthy women taking hormonal contraception, since hypogonadism were under substitutive hormonal therapy. Quality of life data was recorded using two questionnaires (SF-36 and FSFI). Clinical data was also gathered for each patient. Hearing impairment was assessed though a microotoscopy, standard audiometry and auditory evoked potentials. Using the BAST-24 test the test and smell sensitivity and sensibility was evaluated. RESULTS: Hearing impairment was observed among TS women, being the neurisensorial pattern the most frequent among them. The cause of this kind of impairment is diverse, being possible the age, genotype or even history of recurrent otitis during childhood. Impairment in smell was also observed in TS patients. Although sensitivity was not found impaired, it was observed that sexual hormones have a role in intensity and irritability of odours. It was not found any alteration in taste sense in any congenital hypogonadism. When it comes to quality of life, all patients with congenital hypogonadism show lower score in the physical domain than healthy controls. Only half of the TS patients mentioned to mantain sexual relationships. Sexual activity was not related to TS comorbidities but sexual active TS were taller than sexually inactive. Women with other congenital hypogonadism show low scores in sexual function, despite hormonal therapy. It was atempted to use urotelial cells to perform karyotype analysis, but its culture is tough and correlation with phenotype is worse than blood karyotyping. Therefore its use is discouraged.
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Ostberg, Julia Elisabeth. "Characterisation of cardiovascular risk in adults with Turner Syndrome." Thesis, University College London (University of London), 2006. http://discovery.ucl.ac.uk/1445945/.
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Turner Syndrome (TS) results from the complete or partial absence of one X chromosome in females. Short stature and gonadal dysgenesis are characteristic, with increased risks of cardiovascular disease, diabetes and obesity. This thesis investigates the prevalence and pathogenesis of factors contributing to cardiovascular risk. Because women with TS differ from normals in terms of their X-chromosome defect and oestrogen deficiency, they were compared to similarly-aged normal women, and a second control group of similarly-aged women with 46,XX oestrogen deficiency was also recruited. A cross-sectional study investigated the spectrum of structural disease in the heart, aorta and conduit vessels using various imaging techniques. Intima media thickness (IMT), arterial stiffness and endothelial function were also assessed. Progression of aortic dilatation was investigated in a longitudinal echocardiography study. Metabolic abnormalities in TS were investigated by measuring anthropometric parameters and serum markers of adiposity and comparing them in all three groups. Adipose tissue distribution was further investigated in a subgroup of women with TS and normal controls. A longitudinal oestrogen dose-ranging study was performed in women with TS and 46,XX primary amenorrhoea to assess oestrogen effects on various parameters pertaining to cardiovascular risk. Women with TS had greater height-adjusted arterial diameters than controls, and greater IMT, the latter amenable to reduction by increasing doses of oestrogen. The rate of aortic dilatation was greater than in the normal population. Endothelial function did not differ significantly. Women with TS have some features of the metabolic syndrome, but fasting insulin, glucose and leptin concentrations are surprisingly low, despite increased C-reactive protein and Interleukin-6 concentrations, greater central obesity and increased visceral fat than controls. Age, bicuspid aortic valve, blood pressure and oestrogen status were the most important predictors of cardiovascular disease in TS. This knowledge should aid identification of therapeutic targets to improve care in this population.
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Matebese, Nomathamsanqa Thandeka. "Psycho-social apsects of Turner Syndrome : a qualitative study." Master's thesis, University of Cape Town, 2008. http://hdl.handle.net/11427/3048.
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CARLO, CHRISTIAN. "L'hormone de croissance dans le traitement du syndrome de turner." Aix-Marseille 2, 1990. http://www.theses.fr/1990AIX20006.
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Steyn, Paul-Pierre. "The ecophysiology of Gelidium Pristoides (Turner) Kuetzing : towards commercial cultivation." Thesis, Nelson Mandela Metropolitan University, 2009. http://hdl.handle.net/10948/1117.
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The ecophysiology of the red alga Gelidium pristoides (Turner) Kuetzing was investigated in an effort to establish a technique for commercial cultivation. The seaweed is of commercial importance in South Africa where it is harvested from the intertidal zone rocky shores along the coast. It is dried and exported abroad for the extraction of agar. Yields and quality could be improved by cultivation in commercial systems. However, attempts at growing the seaweed in experimental systems have all ended in failure. This study aimed to describe the conditions in which the seaweed grows naturally; and investigate its physiological response to selected physical conditions in the laboratory in order to determine suitable conditions for mariculture. Ecological studies showed that G. pristoides grew above the spring low tide water level. The upper limit of the seaweed’s vertical distribution range, as well as its abundance, was largely dependent on wave exposure. The zone normally inhabited by G. pristoides was dominated by coralline turf in sheltered areas, while the abundance of G. pristoides increased towards more exposed rocky shore sites. The seaweed occurred among species such as Pattelid limpets and barnacles, but was usually the dominant macroalga in this zone, with coralline turf and encrusting algae being the only others. Physical conditions in the part of the intertidal zone inhabited by G. pristoides were highly variable. During low tide temperatures could vary by as much as 10°C within the three hours between tidal inundation of the seaweed population, while salinity varied by up to 9 ppt, and light intensity by as much as 800 μmol m-2 s-1. During these exposure periods the seaweed suffered up to 20% moisture loss. Laboratory experiments on the seaweed’s response to these conditions indicated that it was well adapted to such fluctuations. It had a broad salinity (20 and 40 ppt), and temperature tolerance range (18 to 24°C), with an o ptimum of temperature of 21°C for photosynthesis, while there was no difference in the photosynthetic rate of the alga within the 20 to 40 ppt salinity range. The alga had a low saturating irradiance (ca. 45 – 80 μmol m-2 s-1) equipping it well for photosynthesis in turbulent environments, with high light attenuation, but poorly to unattenuated light conditions. Exposure resulted in an initial increase in photosynthetic rate followed by a gradual decrease thereafter. pH drift experiments showed that low seawater pH, and associated increased carbon dioxide availability, resulted in an increase in photosynthetic rate. This response suggests that the seaweed has a high affinity for carbon dioxide, while the reduction in photosynthetic rate in response to bicarbonate use inhibition indicates that it also has the capacity for bicarbonate use. The high affinity of Gelidium pristoides for carbon dioxide as an inorganic carbon source appears to be the primary reason for the low abundance of the alga on sheltered rocky shore areas, and also explains the failure of the alga to grow in tank or open-water mariculture systems. Exposed rocky shores have experience heavy wave action, and the resultant aeration and mixing of nearshore waters increases the availability of carbon dioxide, which is considered a limiting resource. The absence of such mixing and aeration at sheltered site makes this less suitable habitat for G. pristoides. Periodic exposure also makes high levels of atmospheric carbon dioxide available from which the seaweed benefits. The traditional mariculture systems in which attempts have been made to cultivate the seaweed failed to satisfy either of the above conditions.
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Carvalho, Bettina. "Avaliação auditiva em crianças e adolescentes com Síndrome de Turner." reponame:Repositório Institucional da UFPR, 2017. http://hdl.handle.net/1884/49144.
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Orientador: Prof. Dr. Rogério HamerschmidtCoorientadora: Profª. Drª. Julienne Ângela Ramires de Carvalho
Dissertação (mestrado) - Universidade Federal do Paraná, Setor de Ciências da Saúde, Programa de Pós-Graduação em Saúde da Criança e do Adolescente. Defesa: Curitiba, 07/07/2017
Inclui referências : f. 80-81
Resumo: A síndrome de Turner (ST) caracteriza-se pela baixa estatura e hipogonadismo hipergonadotrófico, associados a características somáticas típicas. Embora a perda auditiva (PA) não tenha sido relatada na primeira descrição da doença por Henry Turner, ela tem sido trazida à atenção nas últimas décadas em muitos estudos. Mas a verdadeira natureza desse problema ainda é desconhecida devido a dados inconsistentes resultantes de diferentes metodologias de estudo. O objetivo deste estudo foi avaliar a audição de meninas com ST utilizando-se de Audiometria e Emissões Otoacústicas, tanto Produto de Distorção (EOAPD) como Transientes (EOAT). Materiais e métodos: Estudo transversal, prospectivo de meninas com ST de seis a 19 anos de idade, que foram avaliadas e comparadas a controles saudáveis de acordo com idade e sexo. Resultados: Foram comparadas 26 orelhas (13 meninas com ST) a 12 orelhas (6 controles). As pacientes com ST apresentaram em Audiometria tonal: audição normal em 14 orelhas, perda auditiva neurossensorial (PANS) em três orelhas, condutiva em sete e mista em duas orelhas (12 audiometrias alteradas). E nas EOAPD: 19 respostas ausentes (73,1% dos casos) em pelo menos uma frequência, e em EOAT: 16 respostas ausentes (61,5%). Respostas ausentes em ambos os testes foram 15 (57,7%). Esta ocorrência foi significativamente maior do que os controles. Conclusão: A presença de alterações auditivas em pacientes com ST avaliadas através de EOA foi elevada. E significativamente mais elevadas do que nos controles, e também do que as alterações presentes em audiometria. Pesquisas futuras devem avaliar estas ausências de resposta nas EOA em pacientes com audiometria normal. Palavras-chave: Síndrome de Turner, audição, perda auditiva.
Abstract: Turner syndrome (TS) is characterized by short stature and hypergonadotrophic hypogonadism, associated with typical somatic features. Although hearing loss (HL) was not reported in Henry Turner first description of the disease, it has been brought to attention in the last decades in many studies. But the true nature of this problem is still unknown due to inconsistent data resulting from different study methodology. The purpose of this study is to evaluate hearing of TS girls using Audiometry and Otoacustic emissions, both Distortion product (DPOAEs) and Transient (TOAEs). Materials and Methods: prospective cross-sectional study of TS girls aging from six to 19 years old, who were evaluated and compared to healthy controls matched to age and sex. Results: 26 ears (13 girls with TS) were compared to 12 ears (6 controls). TS patients showed in Audiometry: normal hearing in 14 ears, neurosensorial hearing loss (NSHL) in three ears, conductive in seven and mixed HL in two ears (12 alterations). In the DPOAEs: 19 absent responses (73.1% of cases) in at least one frequency, and in TOAEs: 16 absent responses (61.5%). 15 absent responses in both tests (57.7%). This occurrence was significantly higher than matching controls for age and sex. Conclusion: The presence of auditory alterations in TS patients assessed by OAE was high. They were significantly higher than the control population, and were higher than those present in audiometry. Future research should evaluate these absences in OAE in patients with normal audiometry. Key-words: Turner Syndrome, hearing, hearing loss.
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Laurencikas, Evaldas. "Metacarpophalangeal pattern profile analysis in hypochondroplasia, dyschondrosteosis and Turner syndrome /." Stockholm, 2004. http://diss.kib.ki.se/2004/91-7140-077-X/.
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Kachmar, Philip J. "Western Canadian populism : reflections on the Turner thesis and Canada." Thesis, University of British Columbia, 2012. http://hdl.handle.net/2429/43142.
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Frederick Jackson Turner’s influential Frontier Thesis has been widely applied in the United States to explain the development of America’s democratic and individualistic political culture. Despite Canada’s North American location, colonial heritage, and sprawling geography, the Frontier Thesis failed to take root in the collective imagination of early Canadians. However, as the economic influence of the Canadian west has shifted, so too has the relevance of Turner’s thesis for Canada.
This paper asserts that political developments in 19th, 20th, and 21st century western Canada can be explained, at least in part, through an application of the Frontier Thesis. I begin by comparing Turner’s argument to the works of Harold Innis and J.M.S. Careless to illustrate why the frontier had a greater effect on 19th century America than 19th century Canada. The results of this comparison illustrate the need for a reconsideration of the frontier’s relevance in the Canadian west. I argue that, although Canada’s early western political culture was dominated by European influences, historical and geographical factors ultimately facilitated the emergence of western Canadian populism.
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Evans, Roger. "Secret rooms : the life and work of Charles Tennyson Turner." Thesis, University of Hull, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.440211.
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Townsend, Joyce. "The materials and techniques of J.M.W. Turner RA 1775-1851." Thesis, Courtauld Institute of Art (University of London), 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.295144.
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Marini, Sofia Helena Valente de Lemos 1952. "Altura final espontanea de pacientes portadoras de sindrome de Turner." [s.n.], 2004. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308149.
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Orientadores: Andrea Trevas Maciel-Guerra, Andre Moreno MorcilloTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas
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Resumo: A síndrome de Turner (ST) decorre da presença de um cromossomo X e ausência total ou parcial do segundo cromossomo sexual, e caracteriza-se por baixa estatura, hipogonadismo primário e diversas anomalias congênitas e patologias adquiridas. A freqüência de baixa estatura varia, em diversos países, de 95 a 100%, com média de altura final (AF) variando de 136,4 a 148,7cm; é considerada um dos maiores problemas pelas pacientes e seus familiares, contribuindo para o aparecimento de dificuldades psicossociais. Vários esquemas terapêuticos vêm sendo propostos para que essas pacientes atinjam maior AF; atualmente, o uso de hormônio do crescimento isolado ou associado a esteróides sexuais parece trazer melhores resultados quanto à elevação da AF, porém questiona-se sua verdadeira relação custo-benefício. Como a avaliação do resultado de quaisquer desses tratamentos, atuais ou futuros, depende da comparação com a AF espontânea de portadoras da ST pertencentes à mesma população, este trabalho teve por objetivo determinar a AF espontânea de uma amostra de pacientes com ST e investigar fatores que influenciem sua estatura na vida adulta. Foram avaliadas 58 pacientes com ST que haviam atingido a altura final (idade cronológica = 18 anos, com velocidade de crescimento < 1 cm/ano no último ano e idade óssea maior que 16 anos, ou idade cronológica = 20 anos). Foram obtidos, sempre que possível, as alturas dos pais e os dados antropométricos ao nascimento; foram colhidos, ainda, os dados referentes ao cariótipo, à ocorrência de puberdade espontânea e ao esquema de reposição hormonal ao qual se submeteram. A média da AF das 58 pacientes foi 144,8cm, a da altura parental (n = 43) foi 163,6cm, e a da altura alvo 157,0cm. Dez pacientes (23%) estavam dentro do canal de crescimento. A média do peso ao nascimento foi 2.693g (n = 36) e a do comprimento 46,9cm (n = 28). Não houve diferença significativa da AF em relação ao cariótipo, à época de nascimento, à ocorrência de puberdade espontânea e à dose e idade de início do estrógeno, nem correlação da AF com o peso e o comprimento ao nascimento. Foi observada correlação com a altura alvo, a média da altura parental e a altura materna, mas não com a altura paterna. O comprometimento da AF observado foi semelhante ao descrito na literatura e inferior ao estimado em trabalhos anteriores com pacientes brasileiras, o que pode ser devido a diferenças metodológicas. A partir deste trabalho, existe a possibilidade de verificar a eficácia de medidas terapêuticas, tanto as relacionadas à reposição hormonal quanto à promoção do crescimento, sobre a AF das pacientes com ST em nosso meio
Abstract: Turner syndrome (TS) is due to the presence of a single X chromosome and partial or total absence of the second sex chromosome. It is characterized by short stature, primary hypogonadism, and various congenital anomalies and acquired diseases. The frequency of short stature was estimated as 95-100% in different countries, with a mean final height (FH) ranging from 136.4 to 148.7 cm. Short stature is considered the main factor of emotional impact by the patients and their relatives, frequently leading to psychosocial problems. Various therapeutic schemes have been proposed in order to improve FH; the use of growth hormone, alone or associated to sex steroids, seems to allow a better adult height. However, the real cost-benefit relation of this treatment has been questioned. As the evaluation of any present or future treatment to improve FH depends on comparison of the results with the spontaneous FH of TS patients from the same population, this work was carried out to determine spontaneous FH in patients with TS and to look for factors which influence their adult height. We evaluated 58 patients with TS who had reached FH (chronological age = 18 years, with height velocity < 1cm/year in the last year and bone age > 16 years, or chronological age = 20 years). Whenever possible, the parents¿ heights and anthropometric birth data were also obtained. We also gathered data on karyotype, occurrence of spontaneous puberty and sex hormone replacement. Mean FH of the 58 patients was 144.8cm; mean mid-parental height was 163.6cm and mean target height was 157.0cm (n = 43). Ten patients (23%) were within the range of target height. Mean birth weight was 2,693g (n = 36) and length 46.9cm (n = 28). There was no significant difference on FH according to karyotype, time of birth and dosage and age at onset of estrogen. There was also no correlation between FH and birth weight and FH and birth length. There were significant correlations with target height, mid-parental height and maternal height, but not with paternal height. The deficit on FH was similar to that described in pertinent literature, but lower than that found in other studies on Brazilian patients, which may be due to methodological differences. The present study brings the possibility to verify the efficacy of therapeutic measures related to sex hormone replacement and growth promotion on FH of patients with TS in Brazilian services
Doutorado
Pediatria
Doutor em Saude da Criança e do Adolescente
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Dias, Maria do Carmo Sorci. "Prevalência da doença celíaca em pacientes com síndrome de Turner." reponame:Repositório Institucional da UnB, 2007. http://repositorio.unb.br/handle/10482/3012.
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Dissertação (mestrado)—Universidade de Brasília, Faculdade de Medicina, 2007.Submitted by Diogo Trindade Fóis (diogo_fois@hotmail.com) on 2010-01-07T10:36:36Z No. of bitstreams: 1 2007_MariadoCarmoSorciDias.PDF: 3448021 bytes, checksum: c3eca27edce4154d19dce19bae117c7d (MD5)
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Introdução - A doença celíaca é uma enteropatia do intestino delgado, imunomediada e induzida pelo glúten em pessoas geneticamente susceptíveis. A prevalência da doença celíaca na população geral é de aproximadamente 0,3%-1%. A elevada prevalência da doença celíaca detectada na síndrome de Turner faz com que estas pacientes sejam consideradas grupo de risco para esta afecção. A doença celíaca está associada com os alelos predisponentes do sistema de histocompatibilidade humano DQ2 e DQ8. Embora a associação entre ambas as afeccções esteja estabelecida em vários países, este é o primeiro estudo no Brasil a demonstrar esta relação. Objetivos - Determinar a prevalência da doença celíaca entre as pacientes com síndrome de Turner acompanhadas em hospital geral de Brasília e identificar a presença de alelos do sistema de histocompatibilidade humano predisponentes nas pacientes com sorologia positiva. Pacientes e métodos - 56 pacientes com síndrome de Turner foram avaliadas por meio de dois testes sorológicos: antiendomíseo e anti-transglutaminase. As pacientes que tiveram esses testes positivos foram submetidas à biópsia jejunal. A presença dos alelos DQ2 e DQ8 predisponentes foi determinada pelo teste da reação em cadeia da polimerase. Resultados - O diagnóstico da doença celíaca foi estabelecido em duas pacientes com marcadores sorológicos positivos e alterações típicas na biópsia jejunal (2/56). Ambas as pacientes apresentaram os alelos DQ2 no teste da reação em cadeia da polimerase. A prevalênciada da doença celíaca no gupo estudado foi de 3,6% (IC 95%= 0.8%-6.4%). Conclusão - Os dados deste estudo mostram que a prevalência da doença celíaca entre as pacientes com síndrome de Turner é mais elevada que a encontrada em estudos realizados na população geral. A presença dos alelos DQ2 do sistema de histocompatibilidade humano confirma a susceptibilidade genética para doença. ________________________________________________________________________________ ABSTRACT
Background - Celiac disease is an immune mediated small intestinal enteropathy induced by gluten in genetically susceptible individuals. The prevalence of the celiac disease in the general population is approximately 0.3-1%. The high prevalence of celiac disease detected in Turner syndrome makes these patients a risk group for this condition. Celiac disease is associated with human leukocyte antigen alleles DQ2 and DQ8. Although this association has been well established in several countries, this is the first study to demonstrates this relation in Brazil. Objectives - To determine the prevalence of the celiac disease among Turner syndrome patients followed in a Brasilia general hospital and to determine the presence of predisponent human leukocyte antigen alleles in patients with positive serological results. Patients/methods - 56 patients with Turner syndrome were evaluated by two serological methods: antiendomysium and anti-tissue transglutaminase antibodies tests. Serologically positive subjects underwent small jejunal biopsy. The presence of DQ2 and DQ8 presisposing alleles was determined by polymerase chain reaction. Results – The diagnosis of celiac disease was established in two patients (2/56) with positive serological markers and typical result on jejunal biopsy. (2/56). Both patients disclosed a DQ2 allele on polymerase chain reaction.The prevalence of celiac disease in study group was 3.6% (IC 95% = 0.8%- 6.4%). Conclusion - The data of this study endorse that the prevalence of the celiac disease among Turner patients is higher than in the general population. The DQ2 alleles of human leucocyte antigen confirm the genetic susceptibilities to disease.
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Melo, Maria Antónia Corga de Vasconcelos. "Language and resistance in the work of Janette Turner Hospital." Master's thesis, Universidade de Aveiro, 1999. http://hdl.handle.net/10773/18362.
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Williamson, Elizabeth. "Possibilities left open : a reading of Janette Turner Hospital's novels." Thesis, The University of Sydney, 1999. https://hdl.handle.net/2123/27696.
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My dissertation follows the journey taken by each of the central characters in the
novels by Janette Turner Hospital. The situation from which the women begin this
journey was important in its recognition of the structured and established patriarchal
society. In two novels the daughters search for an absent father, however, what they
discover is a true sense of self outside the realms of the masculine world. Journeys
involve dealing with a space between certainty and doubt. Each protagonist enters
into a geographical or an emotional pilgrimage where the crossing of ‘known’ borders
leads them into realms of insecurity, of difference and deferral. The journey is
undertaken in the hope of either a discovery ofa new reality or a recovery ofthe past.
Turner Hospital questions any sense of complacency by also presenting death as
something no longer serene or comfortable. Death’s possible abhorrence is
encountered and consequently dealt with. Horror and uncertainty become prominent
on the characters’ journey and, subsequently, a struggle for survival, stability and
understanding occurs. Throughout each story there is a tension found in the
relationship between absence and presence, between doubt and a belief in the
imaginable. In this space ofthe in-between, the possibility of hope is found.
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CAVALCANTI, Pollyanna Burégio de Siqueira. "Investigação cromossômica e molecular em pacientes com síndrome de Turner." Universidade Federal de Pernambuco, 2009. https://repositorio.ufpe.br/handle/123456789/6230.
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Previous issue date: 2009Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
A síndrome de Turner (ST) que resulta de uma alteração cromossômica caracterizada pela perda parcial ou total do segundo cromossomo sexual. Essa síndrome afeta exclusivamente o sexo feminino, possuindo como principais alterações clínicas a baixa estatura, disgenesia gonadal, atraso no desenvolvimento das características sexuais secundárias femininas e esterilidade. Neste trabalho foi realizada a análise citogenética e molecular de 26 pacientes com suspeita clínica da ST atendidas no Serviço de Genética Médica do Instituto Materno Infantil Prof. Fernando Figueira, no período de maio de 2006 a setembro de 2007. Realizamos um levantamento dos dados clínicos de cada paciente e esses foram relacionados com o cariótipo para definir a potencialidade de cada cariótipo na expressão fenotípica. A análise molecular foi realizada nas pacientes 45,X, com alterações estruturais do cromossomo X e portadoras do cromossomo Y e/ou Y-derivado para verificar a presença de materiais derivados do Y, logo que sua presença tem sido associada ao aumento do risco de desenvolver o gonadoblastoma. Das 26 pacientes cariotipadas, 10 possuíam o cariótipo normal (46,XX) e uma com inversão do cromossomo 9 (46,XX,inv(9)(p11q13), sendo descartada nessas pacientes a suspeita da ST. Uma paciente apresentou o cariótipo 46,XY, revelando uma disgenesia gonadal pura (DGP), sendo positiva para os genes SRY (gene de determinação sexual do cromossomo Y) e DAZ (gene deletado na azoospermia) e negativa para AMGY (gene Amelogenin Y). A ST foi confirmada em 14 pacientes, entre estas, nove possuem o cariótipo 45,X e a análise molecular foi negativa para todos os segmentos do cromossomo Y (SRY, DAZ e AMGY) sendo descartada a possibilidade do desenvolvimento do gonadoblastoma nessas pacientes. Uma paciente apresentou isocromossomo Xq em todas as metáfases analisadas e quatro pacientes foram mosaicos apresentando os seguintes cariótipos: 46,X,dup(X)(q22)[18]/45,X[10]; 45,X[21]/46,XX[3]; 46,X,i(Xq)[20]/45,X[10] e 46,X,i(Yq)[20]/45,X[11], nesta última, a análise molecular revelou ausência do gene SRY, sendo diagnosticada como portadora da disgenesia gonadal mista (DGM). Concluimos que através desse estudo foi possível estabelecer um diagnóstico completo para as pacientes, determinando a presença da ST ou de outras alterações cromossômicas que levaram ao quadro clínico. Ressaltamos a importância de uma avaliação mais precisa da constituição cromossômica com o objetivo de proporcionar às mulheres com ST aconselhamento e tratamento adequados
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Forti, Sara <1972>. "Studio della funzionalità respiratoria in soggetti con sindrome di Turner." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2011. http://amsdottorato.unibo.it/3829/1/forti_sara_tesi.pdf.
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The aim of this study is to evaluate the pulmonary function in subjects with diagnosis of Turner Syndrome, in charge at the Syndromology Ward of the Paediatric Clinic of S.Orsola-Malpighi hospital. There are very few datas about lung function in patients with Turner syndrome’s genotype and phenotype in medical literature.
Since the thorax of these subjects have peculiar anatomic shape (as “shield” or “overturned triangle”), we presupposed that these subjects could have also a peculiar respiratory function.
Moreover we look for the possibility of correlation between pulmonary function and estroprogestinic replacement therapy and/or growth hormone (GH) replacement therapy.
Material and methods:
we studied 48 patients, with diagnosis of Turner Syndrome; they all made spirometry voluntarily and, when capable, also plethismografy.
Results:
- the parametres of pulmonary function are a little higher of the predicted values for age and sex but they are a little lower if they're corrected for each patient’s ideal high and weight: so we can conclude that in Turner Syndrme subjects pulmonary function is normal;
-there’s not a statistically significant correlation between pulmonary function and GH therapy;
-there’s not a statistically significant correlation between GH therapy’s length and pulmonary function except for Total Lung Capacity which increases with the number of years of GH therapy;
- there’s not a statistically significant correlation between pulmonary function and estroprogestinic replacement herapy.
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Forti, Sara <1972>. "Studio della funzionalità respiratoria in soggetti con sindrome di Turner." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2011. http://amsdottorato.unibo.it/3829/.
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The aim of this study is to evaluate the pulmonary function in subjects with diagnosis of Turner Syndrome, in charge at the Syndromology Ward of the Paediatric Clinic of S.Orsola-Malpighi hospital. There are very few datas about lung function in patients with Turner syndrome’s genotype and phenotype in medical literature.
Since the thorax of these subjects have peculiar anatomic shape (as “shield” or “overturned triangle”), we presupposed that these subjects could have also a peculiar respiratory function.
Moreover we look for the possibility of correlation between pulmonary function and estroprogestinic replacement therapy and/or growth hormone (GH) replacement therapy.
Material and methods:
we studied 48 patients, with diagnosis of Turner Syndrome; they all made spirometry voluntarily and, when capable, also plethismografy.
Results:
- the parametres of pulmonary function are a little higher of the predicted values for age and sex but they are a little lower if they're corrected for each patient’s ideal high and weight: so we can conclude that in Turner Syndrme subjects pulmonary function is normal;
-there’s not a statistically significant correlation between pulmonary function and GH therapy;
-there’s not a statistically significant correlation between GH therapy’s length and pulmonary function except for Total Lung Capacity which increases with the number of years of GH therapy;
- there’s not a statistically significant correlation between pulmonary function and estroprogestinic replacement herapy.
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Santos, Gisele Guimarães [UNESP]. "Estudo da microarquitetura óssea, do estado nutricional e de fatores farmacológicos na síndrome de Turner." Universidade Estadual Paulista (UNESP), 2012. http://hdl.handle.net/11449/88641.
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000706697.pdf: 387180 bytes, checksum: d3fc704c7ac997366bb304d431c1a8fc (MD5)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Universidade Estadual Paulista (UNESP)
A síndrome de Turner (ST) ocorre em indivíduos do sexo feminino, em uma proporção de aproximadamente 1:2000 a 1:3000 nativivos e caracteriza-se pela presença de um cromossomo X normal e perda parcial ou total do outro cromossomo sexual. O hipoestrogenismo é um dos principais fatores associado à osteopenia e osteoporose. O objetivo do presente estudo foi avaliar a microarquitetura óssea e a influência do estado nutricional e de algumas classes de medicamentos na saúde óssea de pacientes com ST. Foi realizado um estudo transversal no qual participaram 56 voluntárias com idade média de 24,9 anos (entre 10,1 e 59,8 anos). Para avaliação nutricional, foram realizadas medidas antropométricas, de composição corporal, análises bioquímicas e avaliação do consumo alimentar. A avaliação óssea foi realizada por meio de osteossonografia das falanges. Os resultados obtidos foram analisados em dois diferentes estudos, os quais foram escritos na forma de artigo científico, sendo que o primeiro artigo abordou o efeito do estado nutricional na saúde óssea de pacientes com ST e o segundo artigo abordou o efeito de medicamentos sobre o metabolismo ósseo, bem como da TRH e do GH na saúde óssea das pacientes com ST. Ao analisar a microarquitetura óssea, foi possível observar que 59% das participantes com quantidade óssea normal (AD-SoS> 2054m/s) estavam com qualidade óssea inadequada (0,69 uL ≥ UBPI ≥ 0,44uL), apresentando aumento do risco para osteoporose. Não houve correlação entre os parâmetros nutricionais com a quantidade e a qualidade ósseas. O uso de medicamentos com efeito sobre o metabolismo ósseo, bem como a TRH e o GH não apresentaram influência sobre a quantidade (AD-SoS) e a qualidade ósseas (UBPI)
Turner syndrome (TS) occurs in females in a ratio of approximately 1:2000 to 1:3000 live births and is characterized by the presence of a normal X chromosome and partial or complete loss of the other sex chromosome. The hypoestrogenism is one of the main factors associated with osteopenia and osteoporosis. The aim of this study was to assess bone microarchitecture and the influence of nutritional status and some classes of drugs on bone health of patients with TS. We conducted a cross-sectional study in which 56 volunteers participated with a mean age of 24.9 years (between 10.1 and 59.8 years). For nutritional assessment were conducted anthropometric measurements, body composition, biochemical and food intake assessment. A bone assessment was evaluate by phalangeal quantitative osteosonography. The results were analyzed in two different studies which were written in the form of a scientific paper, and the first article evaluated effect of nutritional status on bone health of patients with TS and the second article evaluated the effect of medication on bone metabolism as well as TRH and GH in bone health of patients with TS. When we analyze the bone microarchitecture of patients, we observed that 59% of patients were with normal bone quantity (AD-SoS>2054 m/s) had inadequate bone quality (0,69 uL ≥ UBPI ≥ 0,44 uL), presenting increased risk for osteoporosis. There was no correlation between nutritional parameters with the quantity and quality of bone. The use of drugs with effects on bone metabolism, as well as TRH and GH had no influence on the amount (AD-SoS) and bone quality (UBPI)
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DALLA, CORTE DOMINIQUE. "Syndrome de turner, puberte, grossesse : a propos de 8 nouvelles observations." Lyon 1, 1991. http://www.theses.fr/1991LYO1M143.
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Medeiros, Carla Campos Muniz. "Frequencia de alterações da função tireoideana, anticorpos antitireoide e tireomegalia em paciente com sindrome de Turner na faixa etaria de ate 20 anos." [s.n.], 1998. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308146.
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Orientador: Andrea Trevas Maciel-GuerraDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas
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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
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CATALA, BRIGITTE. "Resultats du traitement par hormone de croissance chez les enfants turneriennes." Clermont-Ferrand 1, 1991. http://www.theses.fr/1991CLF13038.
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Leroy, Jean-Pierre. "L'anégésie à corps calleux : à propos de deux cas découverts à l'échographie." Nantes, 1986. http://www.theses.fr/1986NANT3528.
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NEUVIALLE, PASCALE. "Revelation exceptionnelle d'une dissection aortique : a propos d'un cas avec revue de la litterature." Limoges, 1989. http://www.theses.fr/1989LIMO0150.
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