Encontrados 9 documentos, a visualizar página 1 de 1
Adolescentes e Adultos Fenilcetonúricos: Alterações da Substância Branca Cerebr...
Cabral, Aguinaldo; Gomes, Leonor Bastos; Rivera, Isabel; Tasso, Teresa; Eusébio, FilomenaSão apresentados 22 doentes PKU, 10 do sexo masculino, 12 do feminino, com idades entre 10-41 A (média: 19,7), com diagnósticoe início da dieta tardios. A maioria (20/22) continuam com dieta, 85,7% dos quais há mais de 10 anos. As alterações da S. B. cerebralforam frequentes: 80,9% (RM), 47,6% (TAC), assim como a atrofia cortical: 33,3% (RM) e 28,6% (TAC).Identificadas 65,9% das mutações. Mutações prevalentes: ...
Um Caso Grave de Doença de Rendu-Osler-Weber
F. Pereira, Luísa; Tasso, Teresa; Portela, Regina; Cabral, Aguinaldo; Eusébio, Filomena; Aguas, Bárbara; Campos, Jorge; Gomes, Leonor B.Os autores apresentam um caso de Doença de Rendu-Osler-Weber com evolução particularmente grave, numa adolescente de 16 anos.Trata-se de uma doente do sexo feminino, em que foi detectada acidentalmente, aos três anos de idade, hepatomegália. Os estudos subsequentesmostraram fibrose hepática e, posteriormente, fístulas artériovenosas cerebrais e fístulas artériovenosas pulmonares com insuficiência respiratóriaim...
Thyroid Carcinoma in Children and Young Adults: Retrospective Review of 19 Cases
Saraiva, Joana; Departamento de Endocrinologia. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal.Introduction: Thyroid carcinoma is rare in children and young adults. Most of management guidelines are based in data from adult population. Several controversies remain regarding the aggressiveness of clinical presentation and therapeutic approach.Objective: To evaluate all differentiated thyroid carcinoma patients with less than 20 years-old at presentation reflecting the experience of our unit in relation to...
Recurrent hypercortisolism after removal of an ACTH secretor pituitary adenoma ...
Santos, Jacinta; Paiva, Isabel; Gomes, Leonor; Batista, Carla; Geraldes, Elisabete; Rito, Manuel; Velez, Ana; Oliveira, Fernando; Carvalheiro, ManuelaA 29 years old patient was sent to our Outpatient Clinic of Endocrinology presenting clinic of hypercortisolism. Laboratorial study: High urinary free cortisol (UFC); serum cortisol - 25 microg/dl (8 am) (5-25) and 20 microg/dL (11pm); ACTH - 20 pg/mL (9-52) (8 am) and 14 pg/mL (11 pm); serum cortisol after dexamethasone suppression test: 14,9 mg/dL; CRH test: elevation of ACTH; Pituitary MRI: microadenoma; abd...
Auditoria e a informação financeira relevante num contexto de crise financeira ...
Gomes, Leonor da Conceição Sousa MarquesMestrado em Auditoria ; Numa conjuntura de crise financeira, em que os mercados financeiros internacionais são afectados e perante uma recessão económica global, as entidades de supervisão e as entidades de normalização contabilística e de auditoria têm um papel fundamental no sentido de poderem contribuir para a retoma da confiança nos mercados financeiros, quer pela exigência de rigor e verdade aos órgãos de...
Lack of association of vitamin D receptor gene polymorphisms with susceptibilit...
Lemos, Manuel C.; Fagulha, Ana; Coutinho, Eduarda; Gomes, Leonor; Bastos, Margarida; Barros, Luisa; Carrilho, Francisco; Geraldes, ElizabeteThe vitamin D receptor (VDR) gene is a candidate gene for susceptibility to autoimmune disorders. Association studies of VDR polymorphisms and risk of type 1 diabetes often produced conflicting results in different ethnic backgrounds. The aim of this study was to test for association between common VDR polymorphisms and the genetic susceptibility to type 1 diabetes in the Portuguese population. We genotyped 207...
CYP2D6 genetic polymorphisms are associated with susceptibility to pituitary tu...
Gomes, Leonor; Lemos, Manuel C; Paiva, Isabel; Ribeiro, Cristina; Carvalheiro, Manuela; Regateiro, Fernando JSeveral polymorphisms of drug-metabolizing enzymes have been implicated in the susceptibility to tumor development. The role of the CYP2D6, GSTM1 and GSTT1 genes has been extensively studied, with alleles conferring different metabolic efficiencies and tumor risk. We studied the relationship between the main polymorphisms of these genes and the susceptibility to develop pituitary tumors, by performing a case-co...
ACTH-dependent Cushing's syndrome: a revision of 43 cases.
Paiva, Isabel; Ribeiro, Cristina; Gomes, Leonor; Baptista, Carla; Gomes, Fernando; Rito, Manuel; Rebelo, Olinda; Marnoto, Dina; Moura, CristinaTo evaluate the characteristics and outcomes of the patients diagnosed as ACTH-dependent Cushing syndrome, registered in the department.We reviewed the files of forty-three patients followed from 1974 to 2002.A progressive rise in the number of patients diagnosed was found, being 80% females. Clinical suspicion was based mostly on the typical fat distribution; hirsutism and amenorrhoea were important in women. ...
Autoimmune hypophysitis or lymphocytic hypophysitis.
Paiva, Isabel; Gomes, Leonor; Ribeiro, Cristina; Carvalheiro, Manuela; Ruas, M M AThis entity, due to the pituitary lymphoplasmacytic infiltrate, was described for the first time in 1962. The clinical suspicion relies on a rapidly progressing hypopituitarism, particularly with adrenal involvement, affecting women in the peripartum period or patients with previously recognized autoimmune disease. Diabetes insipidus is also often reported. A sellar mass is found in 80% of cases. The diagnosis ...
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