A5069086175- Thyroid Cancer Diagnosis and Treatment
- Cancer-related Molecular Pathways
- Adrenal and Paraganglionic Tumors
- Cancer, Hypoxia, and Metabolism
- Thyroid Disorders and Treatments
- Parathyroid Disorders and Treatments
- Pituitary Gland Disorders and Treatments
- Genetic factors in colorectal cancer
- Hormonal Regulation and Hypertension
- Neuroendocrine Tumor Research Advances
- Cancer-related gene regulation
- Wnt/β-catenin signaling in development and cancer
- Soft tissue tumor case studies
- Genetic Syndromes and Imprinting
- BRCA gene mutations in cancer
- Neuroblastoma Research and Treatments
- Thyroid and Parathyroid Surgery
- Tumors and Oncological Cases
- Erythrocyte Function and Pathophysiology
- Machine Learning in Bioinformatics
- Agricultural and Food Sciences
- Pluripotent Stem Cells Research
- Cancer Diagnosis and Treatment
- S100 Proteins and Annexins
- Pancreatic and Hepatic Oncology Research
The Ohio State University
2024
Centro Hospitalar Lisboa Norte
2019-2021
Hospital de Santa Maria
2020-2021
University of Lisbon
2015-2021
Instituto Português de Oncologia de Coimbra Francisco Gentil
2002-2017
Instituto Português de Oncologia Francisco Gentil
2005-2015
Universidade Nova de Lisboa
2011-2015
Nova Medical (United States)
2003
IPO Porto
2002
Screening of REarranged during Transfection (RET) gene mutations has been carried out in different series sporadic medullary thyroid carcinomas (MTC). RET-positive tumours seem to be associated a worse clinical outcome. However, the correlation between type RET mutation and patients' clinicopathological data not evaluated yet. We analysed exons 5, 8, 10-16 fifty-one MTC, found somatic thirty-three (64.7%) tumours. Among cases, exon 16 was most frequently affected (60.6%). Two novel...
Objective: Searching for multiple molecular markers in thyroid aspirates appears to be a promising approach establishing preoperative diagnosis of papillary carcinoma (PTC). Methods: Based on this hypothesis, total 63 samples from 55 patients, were collected at random. RNA was extracted the residue cells inside needle used fine aspiration cytology (FNAC) and thereafter analysis carried out both RET rearrangements (type 1, 2, 3) BRAF codon 599 mutation molecule. Results compared with...
Summary objective To determine the spectrum of MEN1 mutations in Portuguese kindreds, and identify mutation‐carriers. patients, design results Six unrelated families were studied for gene by single‐strand conformational polymorphism (SSCP) DNA sequence analysis coding region exon‐intron boundaries gene. These methods identified 4 different heterozygous four families: two are novel (mt 1539 delG mt 655 ims 11 bp) have been previously observed 735 del 46p 1656 C) all resulting a premature stop...
Summary Objective Germline mutations in the HRPT2 gene are associated with hereditary hyperparathyroidism‐jaw tumour syndrome (HPT‐JT) and a subset of familial isolated hyperparathyroidism (FIHP). Somatic detected sporadic parathyroid carcinomas less frequently cystic adenomas. The purpose this study was to investigate underlying defect young patient symptomatic due an apparently adenoma features. Design Methods patient’s genomic DNA were screened by PCR‐based sequencing. Tumour loss...
Este artigo investiga as abordagens sobre o tema da liderança, a luz crescente constitucionalização dos institutos de direito privado e busca pela efetividade do ao desenvolvimento dignidade humana no ambiente organizacional. Analisa-se como novas perspectivas exemplo liderança ética, ambidestra fair play, respondem apoiam contínuas mudanças na gestão empresarial. O estudo examina consolidação desses estilos em um organizacional dinâmico. Argumenta-se que adaptação reinvenção das...
Os contratos eletrônicos, forma de comunicação jurídica mediada por tecnologias digitais, têm transformado as relações negociais. O presente estudo objetivou discutir os obstáculos e potencialidades dos considerando aspectos formais materiais intrínsecas à sua celebração. Para tanto, a metodologia empregada consistiu em levantamentos bibliográficos abrangendo livros, artigos científicos legislação pertinente ao tema. Mesmo que natureza digital eletrônicos ofereça flexibilidade agilidade, ela...
OBJECTIVE: Recent studies have assigned clinical significance and prognostic value to the detection of thyroglobulin (Tg) mRNA in blood patients subjected total thyroidectomy for a papillary or follicular thyroid carcinoma. In this study, we investigated diagnostic specificity Tg detection, analysing samples from healthy volunteers previously reasons other than carcinoma epithelium. DESIGN AND METHODS: Total RNA was extracted whole blood, reverse-transcribed cDNA amplified...
ContextAutosomal dominant hypocalcemia type 1 (ADH1) is caused by heterozygous activating mutations in the calcium-sensing receptor gene (CASR). Whether polymorphisms that are benign state pathologically alter function homozygous unknown.
Multiple endocrine neoplasia type 4 (MEN 4) is a novel form of multiple caused by mutations in the CDKN1B gene. Its clinical presentation includes MEN 1-related tumours such as parathyroid and anterior pituitary possible association with gonadal, adrenal, renal thyroid well facial angiofibromas, colagenomas meningiomas. We describe case patient meningioma, papillary carcinoma, adenoma and, additionally, Hürthle cell adenoma, cholesteatoma uterine leiomyomas. Considering that this could...
The sodium-iodide symporter (NIS) mediates transport of iodide across the basolateral membrane thyroid cells. NIS expression in cancer (TC) cells allows use radioactive iodine (RAI) as a diagnostic and therapeutic tool, being RAI therapy systemic treatment choice for metastatic disease. Still, significant proportion patients with advanced TC lose ability to respond no effective alternative therapies are available. Defective is main reason impaired uptake downregulation has been associated...
Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor arising from "C" cells of the thyroid; it RET associated cancer that can be sporadic or familial in origin. Advances understanding genetic changes with development MTC explain growing interest therapeutic potential tyrosine kinase inhibitors. Sunitinib an orally administered multikinase inhibitor likely to target multiple pathways tumor, stromal, and endothelial compartments. Its role treatment patients has not yet been...
Thyroid cancer (TC) is the most common endocrine malignancy. The sodium–iodide symporter (NIS), responsible for active transport of iodide into thyroid cells, allows use radioactive iodine (RAI) as systemic treatment choice TC metastatic disease. Still, patients with advanced forms often lose ability to respond RAI therapy, which results in worse survival rates. We have shown that overexpression RAC1b, a tumor-related RAC1 splice variant, associated less favorable clinical outcomes...
The functional expression of the sodium–iodide symporter (NIS) at membrane differentiated thyroid cancer (DTC) cells is cornerstone for use radioiodine (RAI) therapy in these malignancies. However, NIS gene frequently downregulated malignant tissue, and 30% to 50% metastatic DTCs become refractory RAI treatment, which dramatically decreases patient survival. Several strategies have been attempted increase mRNA levels DTC cells, so as re-sensitize tumors RAI. there are many RAI-refractory...
Autosomal dominant hypocalcemia, caused by activating mutations of the calcium-sensing receptor (CASR) gene, is characterized hypocalcemia with an inappropriately low concentration parathyroid hormone (PTH). In this report, we describe identification a novel missense mutation in CASR boy autosomal hypocalcemia. Polymerase chain reaction (PCR)-single strand and DNA sequencing revealed heterozygous gene that causes leucine substitution for serine at codon 123 (p.Leu123Ser). This was absent...
Different techniques of molecular biology have been used to screen for RET rearrangements. More recently, immunohistochemistry has used, assuming that is not expressed in normal thyroid follicular cells. The present study was designed define the prevalence expression patients with papillary carcinoma, by and RT-PCR; search specifically RET/PTC-1; -2; -3 rearrangements using RT-PCR, compare results obtained those RT-PCR. Immunohistochemistry performed a polyclonal antibody against tyrosine...