Multiple Endocrine Neoplasia Type 2 Men2
Mostrando 1-12 de 42 artigos, teses e dissertações.
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1. Outcome and long-term follow-up of adrenal lesions in multiple endocrine neoplasia type 1
ABSTRACT Objective To describe the prevalence, clinical characteristics and outcome of adrenal lesions in long-term follow-up of Multiple endocrine neoplasia type 1 (MEN1) patients. Subjects and methods We retrospectively studied sixteen patients from six families of individuals with MEN1. Adrenal involvement was evaluated using clinical, biochemical and
Arch. Endocrinol. Metab.. Publicado em: 02/09/2019
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2. PANCREATIC NEUROENDOCRINE TUMORS: SURGICAL RESECTION
RESUMO Introdução: Os tumores neuroendócrinos pancreáticos (TNE-P) correspondem a cerca de 3% de todas as neoplasias no pâncreas e são de diagnóstico e manejo difíceis. Objetivo: Revisar o diagnóstico e tratamento desses tumores disponíveis na literatura científica atual. Método: Foi realizado levantamento bibliográfico por meio de pesquisa o
ABCD, arq. bras. cir. dig.. Publicado em: 07/02/2019
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3. Análise do status somático dos genes MEN1, AIP e p27Kip1 em tumores de pacientes com neoplasia endócrina múltipla tipo 1 / Analysis of the status of somatic and p27Kip1 genes in tumors from patients with multiple endocrine neoplasia type 1
Aproximadamente 80% dos casos com Neoplasia endócrina múltipla tipo 1 (NEM1) possuem mutações germinativas no gene supressor de tumor MEN1, que os predispõem a tumores nas glândulas paratireóides, pâncreas endócrino e hipófise, além de outros tumores não endócrinos. A tumorigênese dos mais de 20 diferentes tipos de neoplasias já descritas na N
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 06/06/2012
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4. Multiple endocrine neoplasia: the Chilean experience
Multiple endocrine neoplasia (MEN) types 1 and 2 are genetic diseases that are inherited as autosomal traits. The major clinical manifestations of multiple endocrine neoplasia type 1 include the so-called "3 P's": parathyroid, pituitary, and pancreatic tumors, including gastroenteroneuroendocrine tumors. Genetic testing can be performed on patients and the p
Clinics. Publicado em: 2012
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5. Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome
OBJECTIVE: To evaluate whether germline variants of the succinate dehydrogenase genes might be phenotypic modifiers in patients with multiple endocrine neoplasia type 2. Mutations of genes encoding subunits of the succinate dehydrogenase are associated with hereditary paraganglioma/pheochromocytoma syndrome. Pheochromocytoma is one of the main manifestations
Clinics. Publicado em: 2012
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6. RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family
Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Hirschsprung disease usually occurs as a sporadic disease, although it may be associated with several inherited conditions, such as multiple endocrine neoplasia type 2. The rearranged during transfection (RET) proto-oncogene is the major susceptibility gene for
Clinics. Publicado em: 2012
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7. Análise do proto-oncogene RET em pacientes com carcinoma medular de tireóide e megacólon congênito de uma família com mutação germinativa p.C620R / Analysis of the RET proto-oncogene in patients with medullary thyroid cancer and congenital mega-colon in a family with germline mutation p.C620R
As Neoplasias endócrinas múltiplas (NEMs) são síndromes herdadas de modo dominante e causadas por mutações germinativas em genes específicos. Caracterizam-se pela presença de tumores em um conjunto de glândulas endócrinas, conjunto este típico de cada tipo-específico de NEM. Dentre os diferentes tipos de NEMs, há a neoplasia endócrina múltipla
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 11/10/2011
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8. Identificação de moduladores genéticos em uma grande família com neoplasia endócrina múltipla (NEM1) / Identification of modifying genetic fatctors in a large family with multiple endocrine neoplasia type 1
A Neoplasia endócrina múltipla tipo 1 (NEM1; OMIM 131100) é uma síndrome endócrina hereditária, que envolve tumores nas glândulas paratireóides, pâncreas endócrino/duodeno e hipófise. Mutações germinativas no gene supressor de tumor MEN1 são identificadas em aproximadamente 80% dos casos familiais. Os casos restantes podem apresentar grandes de
Publicado em: 2011
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9. Análise do gene AIP na acromegalia familial isolada / Analysis of the AIP gene in familial isolated acromegaly
Acromegaly is a rare disfigurating and insidious disease characterized by enlargement of hands, feet and skull bones due to excess of growth hormone (GH) secreted by a pituitary tumor (somatotropinoma). The majority of the cases with acromegaly is sporadic, however it may occur in association with inherited disorders as Multiple Endocrine Neoplasia type 1 (M
Publicado em: 2010
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10. Sporadic medullary thyroid carcinoma: clinical data from a university hospital
INTRODUCTION: Medullary thyroid carcinoma may occur in a sporadic (s-medullary thyroid carcinoma, 75%) or in a multiple endocrine neoplasia type 2 form (MEN2, 25%). These clinical forms differ in many ways, as s-medullary thyroid carcinoma cases are RET-negative in the germline and are typically diagnosed later than medullary thyroid carcinoma in MEN2 patien
Clinics. Publicado em: 2009-05
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11. Hypercalcitoninemia is not pathognomonic of medullary thyroid carcinoma
Hypercalcitoninemia has frequently been reported as a marker for medullary thyroid carcinoma. Currently, calcitonin measurements are mostly useful in the evaluation of tumor size and progression, and as an index of biochemical improvement of medullary thyroid carcinomas. Although measurement of calcitonin is a highly sensitive method for the detection of med
Clinics. Publicado em: 2009
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12. Avaliação da densidade mineral óssea em pacientes com hiperparatireoidismo primário hereditário associado à neoplasia endócrina múltipla tipo 1, antes e após paratireoidectomia / Bone mineral density analysis in patients with primary hyperparathyroidism associated with multiple endocrine neoplasia type 1, before and after parathyroidectomy
INTRODUÇÃO: Hiperparatireoidismo primário (HPT) é uma doença endócrina relativamente comum, caracterizada por hipercalcemia associada a concentrações de PTH elevadas ou inapropriadamente normais. A maioria dos pacientes (90%-95%) apresenta a forma esporádica da doença, enquanto a forma familiar pode ocorrer associada à neoplasia endócrina múltip
Publicado em: 2009