Congenital Hypothyroidism
Mostrando 25-36 de 73 artigos, teses e dissertações.
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25. Screening and identification of TPO gene mutations in patients with partial or total iodide organification defect / Hipotireoidismo congênito: rastreamento e identificação de mutações no gene TPO em pacientes com defeito parcial ou total de incorporação de iodeto
Introdução: O hipotireoidismo congênito é a causa mais frequente de retardo mental evitável, cuja prevalência é de 1/3000 crianças nascidas vivas. Pode ser causado por disgenesia tireoideana (80% dos casos) ou por defeitos de síntese hormonal (20% restantes). As disormonogêneses tem sido associadas a mutações nos genes da tireoperoxidase (TPO), t
Publicado em: 2009
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26. Screening and functional analysis of thyroglobulin gene mutations de mutações related to congenital goiter and hypothyroidism / Rastreamento e estudo funcional de mutações no gene da tireoglobulina associadas a bócio congênito e hipotireoidismo
Introduction: Congenital hypothyroidism is one of the most common hereditary endocrine disorders, which affects 1:4000 newborns. Congenital hypothyroidism is caused by thyroid gland dysgenesis (80%) or inborn errors of thyroid hormone synthesis (20%). Genetic defects in thyroglobulin, pendrin, thyroperoxidase, dual oxidase 2, simporter sodium/iodine have bee
Publicado em: 2008
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27. Habilidades do desenvolvimento em crianças com hipotireoidismo congênito: enfoque na comunicação / Development skills in children with congenital hypothyroidism: focus on communication
The congenital hypothyroidism, one of the metabolism alterations detected through the neonatal screening, may cause alterations in the individuals global development. The objective of this study was to draw the profile of the development skills in children with congenital hypothyroidism and verify possible influences of the clinical history data in the drawn
Publicado em: 2006
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28. Adesão ao tratamento por cuidadores de crianças com hipotireoidismo congênito / Adherence to the treatment by caregivers of children with congenital hypothvroidism
As doenças crônicas requerem atenção e avaliações continuas e têm despertado a atenção de profissionais da área da saúde, especialmente aqueles que se dedicam à Psicologia Pediátrica, campo de aplicação que se dedica ao estudo do desenvolvimento da criança, bem como das relações entre saúde e doença e as interferências na qualidade de vi
Publicado em: 2005
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29. PAX8 and rTSH genes involvement in congenital hypothyrodism in patients with thyroid dysgenesis / "Avaliação do envolvimento dos genes PAX8 e rTSH no hipotireoidismo congênito em pacientes com disgenesia tireoidiana"
Estudamos 32 crianças com HC devido à agenesia ou ectopia tireoideana para mutações no PAX8 e 30 crianças com hipoplasia da tireóide para mutações no rTSH. Todos os exons de ambos os genes foram amplificados a partir do DNA genômico, seguido por seqüenciamento direto. Encontramos, em dois pacientes com ectopia, duas alterações no gene PAX8, uma n
Publicado em: 2005
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30. Impact of congenital calcitonin deficiency due to dysgenetic hypothyroidism on bone mineral density
The objective of the present study was to determine the effect of chronic calcitonin deficiency on bone mass development. The results of 11 patients with thyroid dysgenesis (TD) were compared to those of 17 normal individuals (C) and of 9 patients with other forms of hypothyroidism (OH): 4 with hypothyroidism due to inborn errors of thyroid hormone synthesis
Brazilian Journal of Medical and Biological Research. Publicado em: 2004-01
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31. Efeito do hipotireoidismo induzido experimentalmente com methimazole sobre o testiculo de ratos de varias idades
Although it is well known that thyroidal hormones are involved in the development and maintenance of many organs, there remain several open questions as to their role in testicular physiology. The present work proposes to contribute to a better understanding of the role of thyroidal hormones in testicular maintenance. The evaluation was based on the biometri
Publicado em: 1995
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32. Growth in early treated congenital hypothyroidism.
The growth of 361 children with congenital hypothyroidism diagnosed by screening was assessed by estimating mean values for height, weight, body mass index (BMI), and head circumference on each birthday up to the age of 4 years. In the group of children with severe congenital hypothyroidism (pretreatment plasma thyroxine < or = 30 nmol/l), the mean heights a
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33. Congenital hypothyroidism in Klinefelter's syndrome.
Congenital hypothyroidism has been found in four patients with Klinefelter's syndrome. It is likely that this reflects more than chance concurrence of these conditions.
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34. Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation.
We present a female infant with (1) abnormal facies: microcephaly, blepharophimosis, small, low set, posteriorly rotated ears, bulbous nose, carp shaped mouth, micrognathia; (2) congenital heart abnormalities: large atrial and ventricular septal defects; (3) congenital hypothyroidism; (4) severe global retardation.
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35. Hypothyroidism and sex chromosomes.
The observation of Campbell and Price in 1979 that their Unit had diagnosed four subjects with both Klinefelter's syndrome and congenital hypothyroidism raised the suspicion of an association between the two conditions. This, and the published reports of an XX male, five XXY males, and one mosaic XY/XXY with congenital or acquired forms of hypothyroidism, to
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36. Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism.
We describe a patient with the unusual association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. This association has been reported before in two brothers and may represent a new syndrome.