Turner Syndrome
Mostrando 25-36 de 111 artigos, teses e dissertações.
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25. Avaliação do crescimento craniofacial e das extremidades de pacientes com deficiência de hormônio de crescimento ou síndrome de Turner em tratamento prolongado com hormônio de crescimento / Craniofacial and extremities growth evaluation of patients with GH deficiency or Turner syndrome during long-term growth hormone treatment
INTRODUÇÃO: Pacientes com deficiência de GH e síndrome de Turner, associados a baixa estatura, são beneficiados com o tratamento com GH. Há controvérsias sobre a atuação deletéria do GH no crescimento craniofacial, porém a maioria dos trabalhos é retrospectiva. Nosso objetivo foi realizar estudo prospectivo para avaliar o crescimento craniofacial
Publicado em: 2007
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26. Análise molecular do gene FOXL2 em mulher com síndrome blefarofimose ptose epicanto inverso com falência ovariana prematura
Premature ovarian failure (POF) is a disorder with very important repercussions for woman life, either regarding the end of reproductive lifespan or the consequent estrogenic hormonal deficiency. The number of POF causes is quite a lot, including infectious diseases as well as immunologyc, iatrogenic and genetic disorders. Since the advances in past decades
Publicado em: 2007
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27. Estresse e autoconceito em pais e mães de crianças com a síndrome do X-frágil
A síndrome do x-frágil (SXF) é a principal causa de deficiência mental herdada, sendo suplantada apenas pela síndrome de Down (SD). Alguns estudos sugerem que ela afeta 1 a cada 4000 homens e 1 a cada 6000 mulheres (Turner, Web, Wake & Robinson, 1996) e com incidência de pré-mutação em torno de 1 para cada 200 cromossomos X (Watson, 2005). A alta pr
Publicado em: 2007
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28. X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome
We describe a case of X monosomy associated with a maternally inherited t(13;14) Robertsonian translocation in a girl with Turner syndrome. The girl's X chromosome was demonstrated to be maternally inherited, ruling out the hypothesis that the translocation exerted an interchromosomal effect on the origin of the monosomy. Chromosomes 13 and 14 showed biparen
Genetics and Molecular Biology. Publicado em: 2006
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29. Frequency of 677C -> T and 1298A -> C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals
Turner syndrome (TS) is an interesting model for investigating the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and non-disjunction because of the high frequency of chromosomal mosaicism among patients with this syndrome. We determined the frequencies of MTHFR 677C -> T and 1298A -> C polymorphic mutations in 49 patients
Genetics and Molecular Biology. Publicado em: 2006
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30. APLICABILIDADE DE MEMÓRIA LÓGICA COMO FERRAMENTA COADJUVANTE NO DIAGNÓSTICO DAS DOENÇAS GENÉTICAS
This study has involved the interaction among knowledge in very distinctive areas, or else: informatics, engineering e genetics, emphasizing the building of a taking decision backing system methodology. The aim of this study has been the development of a tool to help in the diagnosis of chromosomal aberrations, presenting like tutorial model the Turner Syndr
Publicado em: 2006
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31. Determination of the Sexual Phenotype in a Child with 45,X/46,X,Idic(Yp) Mosaicism: Importance of the Relative Proportion of the 45,X Line In Gonadal Tissue. / Determinação do Fenótipo Sexual em uma Criança com Mosaicismo 45,X/46,X,Idic(Yp): Importância da Proporção Relativa da Linhagem 45,X no Tecido Gonadal.
We report here on a girl who, despite her 45,X/46,X,der(Y) karyotype, showed no signs of virilization or physical signs of the Ullrich-Turner syndrome [UTS], except for a reduced growth rate. After prophylactic gonadectomy due to the risk of developing gonadoblastoma, the gonads and peripheral blood samples were analyzed by fluorescence in situ hybridization
Publicado em: 2006
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32. Evidencias de doença tireoideana cronica subclinica em portadoras da sindrome de Turner / Evidences for subclinical chronic thyroid disease in patients with Turner Syndrome
O seguimento de pacientes com síndrome de Turner (ST) fteqüentemente revela alterações transitórias, recorrentes e assintomáticas de TSH e(ou) hormônios tireoideanos (HT). O objetivo deste trabalho foi avaliar estrutura e função da tireóide de portadoras da ST com história de alterações subclínicas nas concentrações hormonais. A casuística i
Publicado em: 2005
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33. Sindrome de Turner : a perspectiva das pacientes
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 atu
Publicado em: 2004
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34. Frequencia das principais mutações no gene da cistationina beta sintetase em portadoras de sindrome de turner e mães de portadores de Sindrome de Down
The most common class of chromosome abnormality is Down Syndrome (DS) and Turner Syndrome (TS). Several investigators have reported that mutations in the metabolic homocysteine enzymes are associated with increased risk of chromosome abnormality due the hypometilation phenomena. The main enzymatic regulators in the metabolism of the homocystheine are Cystath
Publicado em: 2003
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35. Cardiovascular assessment of patients with Ullrich-Turner's Syndrome on Doppler echocardiography and magnetic resonance imaging
OBJECTIVE: To assess the cardiovascular features of Ullrich-Turner's syndrome using echocardiography and magnetic resonance imaging, and to correlate them with the phenotype and karyotype of the patients. The diagnostic concordance between the 2 methods was also assessed. METHODS: Fifteen patients with the syndrome were assessed by echocardiography and magne
Arquivos Brasileiros de Cardiologia. Publicado em: 2002-01
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36. Avaliação de fatores determinantes da densidade mineral ossea areal na sindrome de Turner : estudo transversal de 58 casos
Turner syndrome (TS) is an abnormality of the X ehromosome, characterized mainly by endogenous estrogen deficieney and short stature. Most bone density studies in patiens with TS have presented osteoporosis as a consequence of the absence of pubertal development and low estrogen levels. However, intrinsie factors of bone changes related to TS have not been c
Publicado em: 2001