Endocrine Abstracts

Background: Medullary thyroid carcinoma (MTC) is a rare calcitonin producing neuroendocrine tumour that originates from parafollicular C-cells of the thyroid gland. RET proto-oncogene germline mutations are crucial for the onset and the progression of MTC, and the occurrence of single nucleotide polymorphisms could predispose the clinical course of disease. The objective of this study was to evaluate possible differences in clinical presentation among patients with/without RET...

Background: Medullary thyroid cancer (MTC) makes up to 5–10% of all cases of thyroid malignancies. The clinical course of MTC varies from an extremely indolent tumour to an aggressive variant that is associated with a high mortality rate. RET proto-oncogene germline mutations are crucial for the onset and the progression of MTC. The aim of this study was to evaluate the L769L (subgroup L) and S836S (subgroup S) allele frequencies in patients with sporadic MTC (group A, <e...

Medullary thyroid cancer (MTC) is a form of thyroid carcinoma which originates from the calcitonin-secreting neuroendocrine parafollicular cells of the thyroid. It accounts for 5–10% of all thyroid cancers, and it mostly occurs as a sporadic entity (sMTC), but a familial pattern is also possible. Somatic mutations of RET are reported in 20–80% of sMTCs. The majority of MTCs harbour a RET M918T-exon 16 mutation. In sporadic MTCs the RET gene is mutated in codon 918, w...

35-year old female patient with bilateral pheochromocytoma and operated medullary carcinoma of thyroid gland (MEN II B sy.) is put in the octreotide therapy as she doesn’t accept operation as a therapy because of religious reasons (transfusion of blood) and attacks of artery hypertension couldn’t be control with alfa-adrenergic receptors antagonists.12 MONTH 2004 ADRENALIN-urine 890 nmoldU/l (10.2–65.5); NORADRENALIN-urine >5000...

Introduction: Follicular thyroid cancer (FTC) account for approximately 15% of all thyroid malignancies, with about 65 % being conventional and 35 % Huürthle cell type. Recently a PAX8-PPARγ gene fusion was detected in a significant portion of FTCs, some with a chromosomal translocation t(2;3)(q13;p25). The t(2;3) rearrangement leads to an in-frame fusion of the PAX8 gene, which encodes a transcription factor, with the peroxisome proliferator-activa...

Introduction: Components of metabolic syndrome, particularly overweight, dyslipidemia and diabetes mellitus (DM), are well known cardiovascular risk factors. The objective of this work was to evaluate the metabolic and glycaemic profile in patients (pts) with acute coronary syndrome (ACS), treated in our institution.Methods: A total of 126 pts with ACS (unstable angina, acute myocardial infarction with /STEMI/or without ST-segment elevation/NSTEMI/) were...

Introduction: Rhabdomyolysis coexisting with Addison’s disease is a rare condition and the mechanism is not clearly defined. We report a patient presenting with sever rhabdomyolysis which resolved after steroid replacement therapy.Case report: A 33-year-old man without accompanying comorbidity, presented with progressive myopathy and fatigue. He was hypotensive (RR 90/70), hypovolemic with hyponatremia (125 mmol/l, range 137–146), elevated seru...

Introduction: Pheochromocytomas are rare but treacherous catecholamine-producing tumors of the medulla of the adrenal glands (originating in the chromaffin cells), or extra-adrenal chromaffin tissue. We refer a case with stabilization of tumor growth and hormonal improvements following repeated s.c. injections of octreotide.Case report: We report a female patient aged 35 with a finding of bilateral adrenal mass with sever cardiovascular symptomatology (f...

Nearly one third of women diagnosed with invasive breast cancer are younger than 50 years with regular menstrual cycles. 60% of these tumors express estrogene and progesterone receptors. Common treatment procedure is surgery followed by chemotherapy, radiotherapy and hormone therapy. Often in younger patients chemotherapy causes permanent amenorrhoea. In case that menses afterwards occurs ovarial suppression is needed, mostly by goserelin, LH-RH agonist. The principle of thera...

Introduction: Neuroendocrine tumors (NET) arise from tissue mucosal cells known as enterochromaffin cells. The clinical behavior of NET has been recognized over the past 30 years and genome analysis are needed for further follow up. Here we conduct integrated genome analyses on data from chromosomal gene copy number and transcriptome sequencing as well as analysis of overal survival of patients diagnosed with NET.Material and methods: The study accrued 6...