4 documents found, page 1 of 1
The Calcium/Phosphorus Homeostasis in Chronic Kidney Disease: From Clinical Epi...
Pires, A; Sobrinho, L; Ferreira, GINTRODUCTION: A simple data filtering process together with some basic concepts of control theory applied to electronically stored clinical data were used to identify some of the pathophysiological mechanisms underlying the perturbations of the calcium/phosphorus homeostasis in chronic kidney disease. MATERIAL AND METHODS: Retrospective data (a set per patient of serum single value concentrations of creatinine,...
Identification of de Novo Germline Mutations in the HRPT2 Gene in Two Apparentl...
Cavaco, B; Santos, R; Félix, A; Carvalho, D; Lopes, JM; Domingues, R; Sirgado, M; Rei, N; Fonseca, F; Santos, J; Sobrinho, L; Leite, VThe diagnosis of parathyroid carcinomas is often difficult. HRPT2 mutations have been identified in familial [hyperparathyroidism-jaw tumor (HPT-JT) syndrome] and sporadic parathyroid carcinomas, supporting that HRPT2 mutations may confer a malignant potential to parathyroid tumors. In this study, we report the clinical, histopathological, and genetic investigation of two unrelated cases, whom had apparently sp...
Clinical and Genetic Characterization of Portuguese Patients with Pseudohypopar...
Cavaco, B; Tomaz, R; Fonseca, F; Mascarenhas, MR; Leite, V; Sobrinho, LPatients with pseudohypoparathyroidism type Ib (PHP-Ib) present hypocalcemia and hyperphosphatemia, as a consequence of a resistance to PTH action, through its G-protein-coupled receptor, in the renal tubules. This resistance results from tissue-specific silencing of the G-protein alpha-subunit (G(s)α), due to imprinting disruption of its encoding locus--GNAS. In familial PHP-Ib, maternally inherited deletions ...
Hyperprolactinemic amenorrhea: insights from a case cured during psychoanalysis
Cardoso, G; Sobrinho, L