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1.
Endocrinol. diabetes nutr. (Ed. impr.) ; 64(1): 40-43, ene. 2017.
Artigo em Inglês | IBECS | ID: ibc-171237

RESUMO

Ectopy is the most common embryogenetic defect of the thyroid gland, representing between 48 and 61% of all thyroid dysgeneses. Persistence of thyroid tissue in the context of a thyroglossal duct remnant and lingual thyroid tissue are the most common defects. Although most cases of ectopic thyroid are asymptomatic, any disease affecting the thyroid may potentially involve the ectopic tissue, including malignancies. The prevalence of differentiated thyroid carcinoma in lingual thyroid and thyroglossal duct cyst is around 1% of patients affected with the above thyroid ectopies. We here review the current literature concerning primary thyroid carcinomas originating from thyroid tissue on thyroglossal duct cysts and lingual thyroid (AU)


La ectopia es el defecto embriogenético más frecuente de la glándula tiroides, responsable de entre el 48 y el 61% de todas las disgenesias tiroideas. La persistencia de tejido tiroideo en el contexto de un resto de conducto tirogloso y el tejido tiroideo lingual son los defectos más comunes. Aunque la mayoría de los casos de tiroides ectópico son asintomáticos, cualquier proceso que afecte al tiroides puede afectar potencialmente al tejido ectópico, incluidos los tumores malignos. La prevalencia de carcinoma tiroideo diferenciado en tiroides lingual y quiste del conducto tirogloso es de alrededor del 1% en los pacientes con las ectopias tiroideas antes citadas. Revisamos aquí la bibliografía actual sobre los carcinomas tiroideos primarios originados a partir de tejido tiroideo de quistes del conducto tirogloso y tiroides lingual (AU)


Assuntos
Humanos , Neoplasias da Glândula Tireoide/epidemiologia , Tireoide Lingual/diagnóstico , Tireoide Lingual/patologia , Cisto Tireoglosso/diagnóstico , Cisto Tireoglosso/genética , Disgenesia da Tireoide/embriologia , Neoplasias da Glândula Tireoide/complicações , Glândula Tireoide/embriologia , Glândula Tireoide/patologia , Disgenesia da Tireoide/patologia
4.
Reumatol. clín. (Barc.) ; 10(6): 389-395, nov.-dic. 2014. ilus
Artigo em Espanhol | IBECS | ID: ibc-128366

RESUMO

La fibrodisplasia osificante progresiva es la causa más grave de osificación ectópica en humanos. Se caracteriza por malformaciones esqueléticas congénitas y placas de hueso maduro (endocondral) en el músculo y en otras estructuras ricas en tejido conjuntivo. Se produce por una mutación espontánea en el gen del receptor de la activina A tipo I, similar a la activina-cinasa-2. A raíz de este hallazgo, se han producido importantes avances en el conocimiento de su base molecular y celular. Además de permitir una mejor comprensión de los mecanismos que gobiernan la osificación, evidencias recientes indican que la alteración primordial radica en mecanismos básicos de la diferenciación celular que son clave en varias vías fisiológicas y en la génesis de enfermedades de gran impacto. En el presente artículo, resumimos los últimos avances con implicaciones que trascienden los límites de esta devastadora enfermedad para postularse como un nuevo modelo dentro de la fisiopatología humana (AU)


Fibrodysplasia ossificans progressiva is the most severe and disabling disorder of ectopic ossification in humans. It is characterized by congenital skeletal abnormalities in association with extraskeletal widespread endochondral osteogenesis. Virtually all patients show the same mutation in the «activin A type-I/activin-like kinase-2» receptor encoding gene. As a result of this discovery there have been significant advances in the knowledge of the cellular and molecular basis of the disease. Besides allowing a better understanding of ossification process, recent evidence indicates that the primary disturbance lies within basic mechanisms of cell differentiation that are key in several physiological pathways and in the genesis of diseases with a major impact on health. In this article we summarize these breakthroughs, with implications that go beyond the limits of this devastating disease to insinuate a new model of human pathophysiology (AU)


Assuntos
Humanos , Masculino , Feminino , Miosite Ossificante/epidemiologia , Miosite Ossificante/prevenção & controle , Proteína Morfogenética Óssea 1/análise , Proteína Morfogenética Óssea 1 , Mutação/genética , Diferenciação Celular/genética , Doenças Musculoesqueléticas/complicações , Doenças Musculoesqueléticas/diagnóstico , Doenças Musculoesqueléticas/genética , Disgenesia da Tireoide/complicações , Disgenesia da Tireoide
5.
Acta pediatr. esp ; 72(10): e349-e355, nov. 2014. ilus
Artigo em Espanhol | IBECS | ID: ibc-130805

RESUMO

La presencia de timo ectópico cervical es el resultado de la alteración en su migración durante la embriogénesis. Su degeneración maligna es muy infrecuente, pero es necesario establecer el diagnóstico mediante un estudio histológico. La hemiagenesia tiroidea es una alteración en el desarrollo de la glándula tiroides, un hallazgo accidental en la mayoría de los casos. Afecta más frecuentemente a las mujeres y su localización más habitual es el lóbulo tiroideo izquierdo. La mayoría de los pacientes presenta una función tiroidea normal. La asociación de hemiagenesia tiroidea y timo ectópico cervical no se ha descrito hasta el momento en la población pediátrica. Existe un solo caso descrito en adultos. Se presenta un caso clínico de hemiagenesia del lóbulo tiroideo derecho asociado a timo ectópico cervical localizado en la región tiroidea (AU)


Ectopical cervical thymus is the result of a disturbance in migration during embryogenesis. Although malignant transformations are scarce, the differential diagnosis needs to be established by pathology study. Thyroid hemiagenesis is a rare developmental anomaly which is usually detected incidentally. It affects more commonly females and the left lobe. Clinically, these patients are euthyroid in most of the cases. Ectopic cervical thymic tissue associated with thyroid hemiagenesis has never been described before in children and only one case has been described in adults. We report one case of hemiagenesis of the right thyroid lobe and ectopic cervical thymic tissue located in thyroid area (AU)


Assuntos
Humanos , Feminino , Pré-Escolar , Timo/anormalidades , Disgenesia da Tireoide/complicações , Diagnóstico Diferencial
7.
Rev. esp. pediatr. (Ed. impr.) ; 68(6): 440-444, nov.-dic. 2012.
Artigo em Espanhol | IBECS | ID: ibc-133173

RESUMO

La prevalencia de alteraciones endocrinológicas, generalmente de origen autoinmune, es muy elevada en las personas con síndrome de Down. Por ello, durante toda la vida se debe vigilar la función tiroidea. Es especialmente frecuente el hipotiroidismo, especialmente en su forma subclínica. La delgada línea que separa el hipotiroidismo subclínico del verdadero hace difícil la indicación terapéutica. También la diabetes es más frecuente que en la población general, ocasionalmente asociada a hipotiroidismo (AU)


The prevalence of endocrine disorders, generally of autoimmune origin, is very high in persons with Down’s syndrome. Therefore, the thyroid function should be monitored during the entire lifetime. Hypothyroidism, particularly the subclinical form, is especially common. The thin line separating subclinical hypothyroidism from true hypothyroidism makes the therapeutic indication difficult. Diabetes is also more frequent than in the general population, occasionally associated to hypothyroidism (AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Síndrome de Down/complicações , Testes de Função Tireóidea/tendências , Hipotireoidismo/complicações , Hipotireoidismo/diagnóstico , Hipotireoidismo/terapia , Doenças do Sistema Endócrino/complicações , Doenças do Sistema Endócrino/diagnóstico , Doenças do Sistema Endócrino/terapia , Disgenesia da Tireoide/complicações , Doenças Autoimunes/complicações , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/terapia , Diabetes Mellitus/epidemiologia , Diabetes Mellitus/prevenção & controle
8.
An. pediatr. (2003, Ed. impr.) ; 70(supl.esp.1): 1-3, mayo 2009. ilus
Artigo em Inglês | IBECS | ID: ibc-145868

RESUMO

As in other organ malformations, e.g. of the heart and the kidney, congenital defects of the thyroid gland occur mostly sporadic (1 in 3500 newborns). In the few familial cases of organ malformations, genetic defects in transcription factor genes were identified which are inherited mainly dominantly with a variable penetrance. For thyroid malformations, which manifest as the complete absence of the gland (athyrosis) or thyroid ectopy and thyroid hypoplasia, mutations in the transcription factor genes PAX8, NKX2.1 (TITF1), FOXE1 and NKX2.5 were described so far 1 . Together these mutations, although investigated in hundreds of patients, were detected in less than 50 of affected children. Therefore, the molecular pathogenesis of organ malformations, including the thyroid, are still unknown. To better understand the pathogenesis of organ malformations, further genes involved in early organ development need to be identified and to be tested as candidate genes. In addition new mechanisms need to be elucidated as potentially involved in the nonclassical defects leading to sporadic occurrence. Due to the sporadic occurrence classic mendelian inheritance is an unlikely cause in these conditions. Alternative molecular mechanisms like high rates of spontaneously occurring de-novo somatic mutations and epigenetic defects are possibly involved. Related with this likely non-mendelian inheritance, the variability of the manifestation of organ malformation, even in those cases with already proven mutations within the same transcription factor genes suggest epigenetic modification of the manifestation of organ malformations (fi g. 1) (AU)


No disponible


Assuntos
Humanos , Disgenesia da Tireoide/genética , Mutação/genética , Fatores de Transcrição Box Pareados/genética , Fator 3-alfa Nuclear de Hepatócito/genética
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