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2.
J Pediatr Surg ; 34(4): 568-71, 1999 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-10235324

RESUMO

BACKGROUND: Patients with multiple endocrine neoplasia (MEN) type 2 are at risk for early medullary thyroid carcinoma (MTC). Recently, the cloning of the ret oncogene has made it possible to identify patients at risk for MEN 2 syndrome with a high degree of reliability before presenting any symptoms. METHODS: Children of families with MEN 2 were screened genetically if one of the parents was a known gene carrier of the RET proto-oncogene. If they were carriers, thyroidectomy was performed. RESULTS: The authors report five children with MEN 2 who underwent prophylactic thyroidectomy irrespective of the results of calcitonin screening tests after genetic screening had shown that they were carrier of the RET proto-oncogene. Apart from a temporary hypocalcemia in one, the operations were uneventful. Pathology results showed MTC in three children of one family with MEN 2A at age 2, 3, and 6 years. In two families with MEN 2B the thyroidectomy specimen showed bilateral MTC in a 1-year-old and a 3-year-old child. CONCLUSIONS: These findings show that MTC occurs at very young age in children with MEN 2. The authors advocate performing prophylactic thyroidectomy in the first year of life in children with MEN 2B and at age 2 years in children with MEN 2A to obtain an optimal cure rate.


Assuntos
Carcinoma Medular/prevenção & controle , Neoplasia Endócrina Múltipla Tipo 2a/genética , Neoplasia Endócrina Múltipla Tipo 2b/genética , Proteínas Proto-Oncogênicas/genética , Proto-Oncogenes/genética , Neoplasias da Glândula Tireoide/prevenção & controle , Tireoidectomia , Carcinoma Medular/genética , Criança , Análise Mutacional de DNA , Feminino , Triagem de Portadores Genéticos , Humanos , Lactente , Masculino , Proto-Oncogene Mas , Receptores Proteína Tirosina Quinases/genética , Neoplasias da Glândula Tireoide/genética
3.
Gynecol Obstet Invest ; 43(3): 206-8, 1997.
Artigo em Inglês | MEDLINE | ID: mdl-9127138

RESUMO

Ileus during pregnancy is a rare complication. Malrotation in the adult is an even rarer finding. A case of a woman who developed an ileus in her seventeenth week of pregnancy is presented. At surgery the cause appeared to be a malrotation of the midgut. The incidence and causes of ileus during pregnancy are discussed. Also a short description of the different forms of malrotation are presented. New insights in the etiology of malrotation based on experiments with rats are mentioned.


Assuntos
Obstrução Intestinal/etiologia , Complicações na Gravidez , Adulto , Feminino , Humanos , Enteropatias/complicações , Obstrução Intestinal/diagnóstico , Obstrução Intestinal/cirurgia , Gravidez , Resultado da Gravidez
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