12 documents found, page 1 of 2

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Ultrasound requested by general practitioners or for symptoms unrelated to the ...

Germano, A; Schmitt, W; Almeida, P; Mateus-Marques, R; Leite, V

BACKGROUND: A higher prevalence of thyroid nodules/carcinoma in females is well-known from the literature. The reasons for this difference are not fully explained. We intended to assess gender variation in the referral for ultrasound-guided fine needle aspiration (FNA) of thyroid nodules, to study reasons for gender referral differences, and to assess differences in nodules characteristics between genders. METH...


Ultrasound Requested by General Practitioners or for Symptoms Unrelated to the ...

Germano, A; Schmitt, W; Almeida, P; Mateus-Marques, R; Leite, V

Background: A higher prevalence of thyroid nodules/carcinoma in females is well-known from the literature. The reasons for this difference are not fully explained. We intended to assess gender variation in the referral for ultrasound-guided fine needle aspiration (FNA) of thyroid nodules, to study reasons for gender referral differences, and to assess differences in nodules characteristics between genders. Meth...


Ultrasound requested by general practitioners or for symptoms unrelated to the ...

Germano, A; Schmitt, W; Almeida, P; Mateus-Marques, R; Leite, V

BACKGROUND: A higher prevalence of thyroid nodules/carcinoma in females is well-known from the literature. The reasons for this difference are not fully explained. We intended to assess gender variation in the referral for ultrasound-guided fine needle aspiration (FNA) of thyroid nodules, to study reasons for gender referral differences, and to assess differences in nodules characteristics between genders. METH...


Ultrasound requested by general practitioners or for symptoms unrelated to the ...

Germano, A; Schmitt, W; Almeida, P; Mateus-Marques, R; Leite, V

BACKGROUND: A higher prevalence of thyroid nodules/carcinoma in females is well-known from the literature. The reasons for this difference are not fully explained. We intended to assess gender variation in the referral for ultrasound-guided fine needle aspiration (FNA) of thyroid nodules, to study reasons for gender referral differences, and to assess differences in nodules characteristics between genders. METH...


TERT, BRAF and NRAS in primary thyroid cancer and metastatic disease

Melo, M; Gaspar da Rocha, A; Batista, R; Vinagre, J; Martins, MJ; Costa, G; Ribeiro, C; Carilho, F; Leite, V; Lobo, C; Cameselle-Teijeiro, JM

Context: Little is known about the frequency of key mutations in thyroid cancer metastases and its relationship with the primary tumor genotype. Objectives: To evaluate the frequency of TERT promoter (TERTp), BRAF, and NRAS mutations in metastatic thyroid carcinomas, analyzing primary thyroid tumors, lymph node metastases (LNMs), and distant metastases. Design and Patients: Mutation analysis was performed in 43...


Aggressive Pituitary Lesion with a Remarkably High Ki-67

Marques, P; Mafra, M; Calado, C; Martins, A; Monteiro, J; Leite, V

Os raros tumores pituitários agressivos são chamados carcinomas quando são detectadas metástases, sejam sistêmicas e/ou em sistema nervoso central. Alguns casos estão associados com superprodução de hormônio, mas a maioria é diagnosticada em função dos sintomas locais. Essas neoplasias são geralmente refratárias aos tratamentos atuais. Uma mulher com 51 anos de idade apresentou dor de cabeça de início súbito, p...


Evolução das classificações em Pedopsiquiatria

Araújo, C; Fontes, H; Leão, M; Laureano, M; Cartaxo, T; Leite, V


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, V

The 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, L

Patients 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 ...


PROP1 gene analysis in Portuguese patients with combined pituitary hormone defi...

Lemos, MC; Gomes, L; Bastos, M; Leite, V; Limbert, E; Carvalho, D; Bacelar, C; Monteiro, M; Fonseca, F; Agapito, A; Castro, JJ; Regateiro, FJ

OBJECTIVE: Mutations of the PROP1 gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less frequently, ACTH. This study was undertaken to investigate the molecular defect in a cohort of patients with CPHD. DESIGN, PATIENTS AND MEASUREMENTS: A multicentric study involving 46 cases of CPHD (17 familial cases belonging to seven kindreds and...


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