Endocrine Abstracts

Objectives: Effective patient management is about finding a balance between overtreatment and undertreatment. Finding the border is very difficult due to the hardly predictable development of carcinoma. Molecular markers and their testing could help distinguish between low-grade and high- grade carcinomas. One of these molecular markers is a BRAF fusion gene. The aim of this study was to identify BRAF fusion genes in thyroid carcinomas, to correlate them with...

Introduction: Parathyromatosis is a rare cause of recurrent hyperparathyroidism defined as small nodules of hyperfunctioning parathyroid tissue in the soft tissues of the neck or mediastinum. The most common cause is probably the implantation of parathyroid cells into surrounding tissue during surgery and the risk of parathyromatosis increases with repeated parathyroid surgery. There is an overlap in the histologic features in parathyromatosis, atypical adenoma, and parathyroi...

Objectives: Although, almost all patients with inherited medullary thyroid carcinomas (MTC) harboured RET proto-oncogene mutation, in patients with sporadic MTC, mutations in RET are detected only in half of cases. Thus still unknown genetic causes are responsible for half of sporadic MTC and it is necessary to search for another mutations.Methods: DNAs from fresh frozen thyroid tissues of 27 sporadic MTC were extracted. The next-genera...

Objectives: Papillary thyroid carcinoma (PTC) is the most frequent malignant endocrine disease and the most common genetic cause of the PTC is the substitution c.1799T>A (p.V600E) in the BRAF gene (35-70% of PTC) that represents more than 95% of BRAF mutations. Other rare mutations in the BRAF gene include other substitutions (e.g. p.K601E), small deletions or insertions close to codon 600. The aim was to analyze a large cohort of thyroid nodules...

Objectives: The substitution BRAF p.V600E is the most common genetic cause of the papillary thyroid carcinoma (PTC) and represents more than 95% genetic variants in BRAF gene. Other rare variants in the BRAF gene include other substitutions (e.g. p.K601E), small deletions or insertions close to codon 600. The aim of this study was to analyze a large cohort of thyroid nodules for rare genetic variants in the BRAF gene.M...

Introduction: Fibroblast growth factor-21 (FGF-21) is a novel regulator of glucose and lipid metabolism and insulin sensitivity. Possible role of FGF-21 in the development of insulin resistance in critically ill patients has not been studied yet.Objective: To study the changes in FGF21 production and adipose tissue and skeletal muscle FGF-21 mRNA gene expression in cardiac surgery patients.Methods: Sixteen patients (16 men, aged 66...

Introduction: Hereditary medullary thyroid carcinoma (MTC) is associated with only one major cause – germline mutations in the RET proto-oncogene. The most of tested families with MTC is related to specific RET mutation, however, very small number of families left unresolved without the causing inherited mutation. New techniques of next generation sequencing give hope in finding the new candidate genes that could be involved in the pathogenesis of these ...

Stressful experiences produce profound physiological and behavioural disturbances that may contribute to many psychiatric disorders. Stress activates HPA axis whose end products glucocorticoids modulate immune cells and cytokine activity. Local effect of glucocorticoids depends not only on its concentration but also on the enzyme 11β-hydroxysteroid dehydrogenase type 1 (11HSD1), which amplifies intracellular glucocorticoid concentration by the conversion of inactive 11-de...

Amiodarone is a potent and among cardiologists still very popular anti-arrhythmic drug. This case report describes severe course of amiodarone-induced thyrotoxicosis (AIT) which is one of the most serious side effects of the treatment. The patient (J S born in 1950) was first hospitalised in June 2012 for atrial fibrillation with rapid ventricular response and tachycardia-induced cardiomyopathy with a decreased ejection fraction (EF). Thyroid hormones were normal at that time ...

Adrenal incidentaloma is frequently encountered in endocrinological praxis, however in specific situations the proper investigation is almost impossible. A 60-years old patient was admitted to our intensive care unit with a myocardial infarction in cardiogenic shock requiring ionotropic support and intraaortic balloon counterpulsation. On account of ejection fraction 15–20% an urgent pretransplantation investigation was started. Abdominal ultrasound displayed a hypoechoge...