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Molecular characterisation of a kindred with MEN2A and clinical implications.
Lemos, M C; Carrilho, F; Rodrigues, F J; Cavalheiro, M; Regateiro, F J; Ruas, M MMEN2A is an autossomal dominant cancer syndrome characterised by the presence of medullary thyroid cancer, pheochromocytoma and primary hyperparathyroidism. Germline mutations of the RET protooncogene constitute the molecular defect and can be identified in affected individuals. Genetic screening of family members at risk allows early diagnosis and preventive measures before the appearance of the disease. We pr...
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 ...
Kidney transplantation in patients with type I and type II diabetes mellitus.
Baptista, C; Serviço de Endocrinologia, Diabetes e Metabolismo, Hospitais da Universidade de Coimbra.; Bastos, M; Gomes, L; Macário, F; Ruas, LA total of 618 patients with end-stage renal disease received kidney transplants between 1980 and September 1996. Twenty eight of them were diabetics. Better results were achieved for type 1 diabetic patients than for type 2 (mortality: 5.9% vs 27.3%; functioning graft: 88.2% vs 72.7%). The morbility was also higher in those patients (infections: 81.8% vs 29.4%; vascular complications: 45.5% vs 17.6%). Actuaria...
The prevalence of hypertension in acromegaly.
Barros, L; Serviço de Endocrinologia, Diabetes e Metabolismo, Hospitais da Universidade de Coimbra.; Paiva, I; Rodrigues, D; Ruas, L; Carrilho, FTo estimate the prevalence of hypertension (HT) in a group of patients with acromegaly at the moment of diagnosis and after treatment.Fifty-seven patients, 43 females and 14 males with a mean age of 45.19 +/- 11.9 years were studied retrospectively. In the last visit 9 patients (15.7%) were in remission and 47 (84.2%) had active acromegaly. We considered hypertensive the patients with systolic BP > or = 140 and...
Craniocerebral imaging in children with short stature.
Barros, L; Departamento de Neuroradiologia, Hospitais da Universidade de Coimbra.; Ribeiro, C; Bastos, M; Rodrigues, D; Moura, C; Geraldes, ETo analyse the type and frequency of cranial CT and NMR imaging anomalies in children of short stature. Patients and Interventions: We studied 57 children of short stature with a mean age (+/-SD) of 10.1 +/- 3.8 years, 34 boys and 23 girls, all of them with auxometric criteria of GH deficiency. After studying the pituitary function and determination of karyotype in the girls, the children were classified in to ...
Beneficial effects of added glicazide in patients with type II diabetes mellitu...
Ruas, M M; Serviço de Endocrinologia e Doenças Metabólicas, Hospitais da Universidade de Coimbra.; Carvalheiro, M; Geraldes, E; Carrilho, F; Bastos, MThe aim of the study was to assess, in patients with non insulin dependent diabetes mellitus (NIDDM), either with previous failure to sulphonylureas or insulin treated since the disease started, if the combination of gliclazide to insulin therapy might induce a reduction of daily insulin requirement. 30 caucasian type II patients used to self-monitoring (11 female, 19 male, mean age 55.78 +/- 8.07) with residua...
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