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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
1

Challenge not crisis : an exploration of the role of genetic counselling for Turner syndrome, using an 'across the life span' approach, enabling families and individuals to meet the challenge

Le Coyte Hopkins, Catherine Marie Ginette January 2014 (has links)
An exploratory pilot study was conducted to identify specific experiences, perceptions and challenges of participants affected by Turner Syndrome in Hong Kong. It was important to discover how issues concerning fertility, menstruation, ovarian function and ovarian insufficiency and hormone replacement therapy, which are important to these women have impacted their psychosocial wellbeing, psychosocial experiences and their relationships. An ‘across the life span’ approach was used to explore significant issues at various stages or ‘moments’ of their lives, and which they perceive to be important to family and the Chinese culture. The findings of this study has implications for the role of genetic counselling in Turner Syndrome in Hong Kong, to facilitate individuals and their families to meet the challenge. When parents make prenatal decisions for the continuation of pregnancy of a fetus with Turner Syndrome, the quality of genetic counselling is considered to have direct effect on the decision making and continuance of pregnancy. Previous literature indicated that critical criteria for decision making during the prenatal period includes the potential future fertility of the fetus. These issues concerning fertility of patients with Turner Syndrome were explored in this study, in addition to a review of the existing literature. Methodology This was a study of qualitative research, using semi structured interviews. Triangulation techniques were employed in order to gain a rich insight into the care of patients with Turner Syndrome in Hong Kong. For this report, four participants were recruited, who were existing patients of the Department of Reproductive Medicine clinic in Queen Mary Hospital. Each consented to an in depth interview concerning their experiences and challenges of Turner Syndrome in Hong Kong. The narrative of the interview was analysed according to the themes which emerged. A review of medical notes of the participants from the Department of Reproductive Medicine clinic in Queen Mary Hospital, Hong Kong was also conducted. Results Of the participants included in this analysis, one individual with classical features of Turner Syndrome had a 45, X karyotype. The remaining three participants were cytogenetically diagnosed with a mosaicism for Turner Syndrome. It was anticipated that the knowledge gained would improve the provision of information and care by the genetic counsellor and medical practitioner, for patients or parents at initial diagnosis and across their lifespan. The study participants were able to provide rich body of data allowing insight into their lives, experiences and challenges. The pregnancy losses that they have endured, and the hope that all four individuals sustain became evident with each interaction. Significance This study has shown that patients require an in depth knowledge of their condition. They trust the medical professionals who care for them, and their care should be managed with continuity ‘across the life span’ by carers who are experts in Turner Syndrome. Their need for establishment of support groups, and a continuing support structure is essential to their well-being and their psychological health. This is a unique study in Hong Kong with these issues having not been explored previously. / published_or_final_version / Medicine / Master / Master of Medical Sciences
2

Cytogenetic and phenotypic study of long arm X isochromosome in humans

Fakhretaheri, Zahrabigom, 1952- January 1978 (has links)
No description available.
3

Estudo da microarquitetura óssea, do estado nutricional e de fatores farmacológicos na síndrome de Turner /

Santos, Gisele Guimarães. January 2012 (has links)
Orientador: Anderson Marliere Navarro / Banca: 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
4

Avaliação das habilidades sociais na Sindrome de Turner / Validation of social sills in Turner Syndrome women

Suzigan, Ligia Zuppi Conceição 18 February 2008 (has links)
Orientadores: Andrea Trevas Maciel Guerra, Roberto Benedito de Paiva e Silva / Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas / Made available in DSpace on 2018-08-11T04:24:30Z (GMT). No. of bitstreams: 1 Suzigan_LigiaZuppiConceicao_D.pdf: 2539621 bytes, checksum: 3f3bae930fe807debf130ca77e833902 (MD5) Previous issue date: 2008 / 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
5

Avaliação cardiovascular por ressonância magnética cardíaca e torácica em pacientes com Síndrome de Turner

Pereira, Betina Feijó January 2009 (has links)
Objetivo: Avaliar a presença de malformações cardiovasculares em 33 pacientes com síndrome de Turner acompanhadas no Hospital de Clinicas de Porto Alegre. Métodos: Estudo transversal no qual foi realizada ressonância magnética cardíaca (RMC) e torácica com ênfase na avaliação da aorta (RMA) em 33 pacientes. Resultados: As pacientes tinham idade media de 20 anos e 10 meses e altura de 138,7 cm. Aproximadamente 42,42% das pacientes apresentavam cariótipo 45,X e 33,33% pescoço alado. À RMC, 54,54% das pacientes apresentaram alteração, sendo válvula aórtica bicúspide o achado mais frequente, presente em 24,24%. À RMA, malformações cardiovasculares foram encontradas em 42,42%, sendo o alongamento do arco transverso presente em 27,27% das pacientes. Dilatação da aorta estava presente em 66,66% das pacientes, considerada severa em 12,12%. O local mais frequente de dilatação foi na raiz da aorta e na porção tubular da aorta ascendente. Conclusões: Os resultados do presente estudo corroboram achados preliminares da literatura que demonstram que anomalias cardiovasculares são comuns na síndrome de Turner, especialmente diagnosticadas pela ressonância magnética. Dilatação da aorta, principalmente na aorta ascendente, e extremamente frequente na síndrome de Turner e proporciona elevado risco de evento aórtico agudo como a dissecção, potencialmente fatal. / Objective: To evaluate the incidence of cardiovascular malformations in 33 patients with Turner's syndrome followed up in the Hospital de Clinicas of Porto Alegre. Methodology: A transversal study in which a Cardiac and Thoracic Magnetic Resonance Imaging (MRI ) with focus on the evaluation of the aorta was performed in 33 patients. Results: The patients had average age of 20 years and 10 months and height of 138,7 cm. Approximately 42,42% of the patients presented karyotype 45,X and 33,33% webbed neck. Through MRI 54,54% of patients showed anomalies; the bicuspid aortic valve was the most frequent found present in 24,24% of patients. Through MRI, cardiovascular malformations were found in 42,42%, and elongation of the transverse arch was present in 27,27% of patients. Aortic dilatation was found in 66,66% of patients, and it was considered severe in 12,12%. The most frequent place of dilatation was in the aortic root and in the tubular portion of the ascending thoracic aorta. Conclusion: The results of present study corroborate with the literature that says cardiovascular anomalies are common in Turner's syndrome, especially diagnosed through magnetic resonance imaging. Aortic dilatation, most prominent in the ascending aorta, is very frequent in Turner's syndrome and that predicts high risk for acute aortic events such as dissection, potencially fatal.
6

Síndrome de Turner revisitada: pesquisa bibliográfica e reconstituições narrativas

Jung, Monica de Paula January 2004 (has links)
Made available in DSpace on 2011-11-09T14:45:31Z (GMT). No. of bitstreams: 1 license.txt: 1648 bytes, checksum: e095249ac7cacefbfe39684dfe45e706 (MD5) Previous issue date: 2004 / Fundação 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.
7

Avaliação cardiovascular por ressonância magnética cardíaca e torácica em pacientes com Síndrome de Turner

Pereira, Betina Feijó January 2009 (has links)
Objetivo: Avaliar a presença de malformações cardiovasculares em 33 pacientes com síndrome de Turner acompanhadas no Hospital de Clinicas de Porto Alegre. Métodos: Estudo transversal no qual foi realizada ressonância magnética cardíaca (RMC) e torácica com ênfase na avaliação da aorta (RMA) em 33 pacientes. Resultados: As pacientes tinham idade media de 20 anos e 10 meses e altura de 138,7 cm. Aproximadamente 42,42% das pacientes apresentavam cariótipo 45,X e 33,33% pescoço alado. À RMC, 54,54% das pacientes apresentaram alteração, sendo válvula aórtica bicúspide o achado mais frequente, presente em 24,24%. À RMA, malformações cardiovasculares foram encontradas em 42,42%, sendo o alongamento do arco transverso presente em 27,27% das pacientes. Dilatação da aorta estava presente em 66,66% das pacientes, considerada severa em 12,12%. O local mais frequente de dilatação foi na raiz da aorta e na porção tubular da aorta ascendente. Conclusões: Os resultados do presente estudo corroboram achados preliminares da literatura que demonstram que anomalias cardiovasculares são comuns na síndrome de Turner, especialmente diagnosticadas pela ressonância magnética. Dilatação da aorta, principalmente na aorta ascendente, e extremamente frequente na síndrome de Turner e proporciona elevado risco de evento aórtico agudo como a dissecção, potencialmente fatal. / Objective: To evaluate the incidence of cardiovascular malformations in 33 patients with Turner's syndrome followed up in the Hospital de Clinicas of Porto Alegre. Methodology: A transversal study in which a Cardiac and Thoracic Magnetic Resonance Imaging (MRI ) with focus on the evaluation of the aorta was performed in 33 patients. Results: The patients had average age of 20 years and 10 months and height of 138,7 cm. Approximately 42,42% of the patients presented karyotype 45,X and 33,33% webbed neck. Through MRI 54,54% of patients showed anomalies; the bicuspid aortic valve was the most frequent found present in 24,24% of patients. Through MRI, cardiovascular malformations were found in 42,42%, and elongation of the transverse arch was present in 27,27% of patients. Aortic dilatation was found in 66,66% of patients, and it was considered severe in 12,12%. The most frequent place of dilatation was in the aortic root and in the tubular portion of the ascending thoracic aorta. Conclusion: The results of present study corroborate with the literature that says cardiovascular anomalies are common in Turner's syndrome, especially diagnosed through magnetic resonance imaging. Aortic dilatation, most prominent in the ascending aorta, is very frequent in Turner's syndrome and that predicts high risk for acute aortic events such as dissection, potencially fatal.
8

Avaliação cardiovascular por ressonância magnética cardíaca e torácica em pacientes com Síndrome de Turner

Pereira, Betina Feijó January 2009 (has links)
Objetivo: Avaliar a presença de malformações cardiovasculares em 33 pacientes com síndrome de Turner acompanhadas no Hospital de Clinicas de Porto Alegre. Métodos: Estudo transversal no qual foi realizada ressonância magnética cardíaca (RMC) e torácica com ênfase na avaliação da aorta (RMA) em 33 pacientes. Resultados: As pacientes tinham idade media de 20 anos e 10 meses e altura de 138,7 cm. Aproximadamente 42,42% das pacientes apresentavam cariótipo 45,X e 33,33% pescoço alado. À RMC, 54,54% das pacientes apresentaram alteração, sendo válvula aórtica bicúspide o achado mais frequente, presente em 24,24%. À RMA, malformações cardiovasculares foram encontradas em 42,42%, sendo o alongamento do arco transverso presente em 27,27% das pacientes. Dilatação da aorta estava presente em 66,66% das pacientes, considerada severa em 12,12%. O local mais frequente de dilatação foi na raiz da aorta e na porção tubular da aorta ascendente. Conclusões: Os resultados do presente estudo corroboram achados preliminares da literatura que demonstram que anomalias cardiovasculares são comuns na síndrome de Turner, especialmente diagnosticadas pela ressonância magnética. Dilatação da aorta, principalmente na aorta ascendente, e extremamente frequente na síndrome de Turner e proporciona elevado risco de evento aórtico agudo como a dissecção, potencialmente fatal. / Objective: To evaluate the incidence of cardiovascular malformations in 33 patients with Turner's syndrome followed up in the Hospital de Clinicas of Porto Alegre. Methodology: A transversal study in which a Cardiac and Thoracic Magnetic Resonance Imaging (MRI ) with focus on the evaluation of the aorta was performed in 33 patients. Results: The patients had average age of 20 years and 10 months and height of 138,7 cm. Approximately 42,42% of the patients presented karyotype 45,X and 33,33% webbed neck. Through MRI 54,54% of patients showed anomalies; the bicuspid aortic valve was the most frequent found present in 24,24% of patients. Through MRI, cardiovascular malformations were found in 42,42%, and elongation of the transverse arch was present in 27,27% of patients. Aortic dilatation was found in 66,66% of patients, and it was considered severe in 12,12%. The most frequent place of dilatation was in the aortic root and in the tubular portion of the ascending thoracic aorta. Conclusion: The results of present study corroborate with the literature that says cardiovascular anomalies are common in Turner's syndrome, especially diagnosed through magnetic resonance imaging. Aortic dilatation, most prominent in the ascending aorta, is very frequent in Turner's syndrome and that predicts high risk for acute aortic events such as dissection, potencially fatal.

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