Abstract Introduction: Thyroid carcinoma is the most common endocrine cancer. Some somatic mutations in genes (BRAF, NRAS and TERT) involved in key signaling pathways and genome stability have been recently identified to play an important role in its development. Very little research has been done on their frequency and clinical relevance in Bulgarian patients with papillary thyroid cancer (PTC). This study is focused on investigating somatic mutation frequency in Bulgarian patients with PTC and their association with clinicopathologic features. Material and Methods: The study included 50 PTC from Bulgarian patients analyzed for mutations in BRAF (V600E), NRAS (Q61K), single nucleotide polymorphism (SNP) rs2853669 and TERT (C228T and C250T) genes by Sanger sequencing. The results were interpreted using Benchling and SeqScape software, and statistical analysis performed with SPSS. Results: In the studied PTC group BRAF(V600E) and TERT (C228T) mutations were found with frequency of 24% and 2%, respectively. Co-occurrence of both mutations was found in 1 patient (2%). The mutations Q61K (NRAS), and C250T (TERT) were not detected. The SNP rs2853669 was found in 18 patients (52.9%). Correlation analysis with the clinical characteristics of the patients revealed statistically significant association with larger size of the tumor for BRAF(V600E) and smaller tumor size for rs2853669. Conclusion: In the present pilot study, we found that BRAF(V600E) and rs2853669 in TERT are common among PCT patients. While the presence of BRAF V600E mutation was associated with large tumors, the presence of rs2853669 in TERT was found in the majority of PCT below 2 cm. More extensive molecular genetic analysis of TERT, BRAF or RAS mutations in larger sample is needed to further elucidate the clinically important diagnostic and prognostic biomarkers for thyroid cancer.

Subacute thyroiditis is a relatively rare thyroid disease that develops after acute viral upper respiratory tract infection and manifests with neck pain, fever and transient hyperthyroidism. The diagnosis is often delayed due to the non-specific presentation and laboratory findings. It is misdiagnosed with upper respiratory tract infections, cervical lymph-adenitis, even with acute pyelonephritis. The authors present a series of 12 patients with subacute thyroiditis and discuss the main steps in the diagnosis, differential diagnosis and treatment of this disease.

Hrthle cell carcinoma is a rare thyroid neoplasm with unpredictable development. Ever since its first description in 1907 by Langhans there have been a debate about their origin, clinical course, treatment and prognosis. Here, we describe a case of an 81-year-old male which after great diagnostic dilemma proved to be an aggressive Hrtle cell carcinoma. This case illustrates an aggressive Hrthle cell carcinoma with unpredictable slow progressive development and resistant to treatment options including surgeryand radioactive iodine.

Objectives: Metabolic changes associated with increased cardiovascular risk (CVR) in nonalcoholic fatty liver disease (NAFLD) are present increasingly in young men. We aimed to compare the frequency and the severity of metabolic changes in young and middle-aged patients with NAFLD.

Objective: Fibromuscular dysplasia (FMD) is a relatively rare reason for secondary hypertension, predominantly in young women. Intravascular ultrasound (IVUS) plays a potentially important role for defining the precise type of FMD and to properly direct treatment – balloon PTA. This may lead to better results. Design and method: This is a clinical case of 25 year old woman. She was with arterial hypertension for the last 3 years, maximal values 200/100 mmHg, and self – measured on a centrally acting medication 130/80 mmHg. Ambulatory blood pressure monitoring showed elevated day and night blood pressure values. There were no clinical signs for aortic coarctation. TSH in the reference range. Smoking anamnesis. Low-dose estrogen-progesteron anticonception therapy in the past. Renal arteries Dopler – Vc 300 cm/sec for the distal right renal artery, Vc for the aorta 65 cm/sec. Contrast CT of the renal arteries and low extremities – inconclusive. Results: Renovasography was performed and renal fibromuscular dysplasia with intimal fibrosis was diagnosed. Right renal artery – critical 99% stenosis of the low renal artery branch; 80% of the upper renal artery branch, collateralized through the capsular artery. Intravascular ultrasound was conducted: intimal hyperplasia of middle and distal segment; the proximal segment with echonegative areas, characteristic of medial necrosis. MLP 1.9 m2. A successive PTA with rising diameter drug eluting balloons was performed on top of premedication with aspirin and clopidogrel. Post-procedure blood pressure 90/60 mmHg. Conclusions: The patient was discharged on dual antiplatelet therapy. 6 months later the home measured blood pressure monitoring was in the reference range without antihypertensive treatment. The use of IVUS in the treatment of FMD with PTA may lead to better and more durable clinical results. Still larger groups of patients are needed to precise IVUS-based treatment.

Serum lipids abnormalities are widespread among patients with chronic hepatitis C (CHC), but the impact of concomitant hepatic steatosis [steatosis, nonalcoholic steatosis (NAS)], as well as distinctions between it and nonalcoholic fatty liver disease (NAFLD) are not well established yet. The aim of the study was to assess and compare the serum lipids in patients with genotype 1 CHC with and without steatosis, those with NAFLD, and healthy controls (HC). A total of 1010 subjects were included in this study: 366 CHC genotype 1 patients with steatosis (n = 227) and without steatosis (n = 139), 403 NAFLD patients, and 241 HC without fatty liver or other disease, matched for age and gender. Serum lipids, body mass index (BMI), components of metabolic syndrome (MS), and serum insulin levels were evaluated. In addition serum lipoprotein (a) [Lp(a)] levels were studied in 112 CHC and 80 NAFLD patients. The mean levels of total cholesterol, LDL-cholesterol and triglycerides (Tg) were higher and the mean levels of HDL-cholesterol were lower in all patients with steatosis (CHC and NAFLD) than in CHC cases without steatosis (p < 0.05 and p = 0.001, resp.). Higher prevalence and severity of lipid abnormalities, including Lp(a), were observed in patients with NAFLD than in those with CHC (p < 0.001). No difference was found between CHC patients without steatosis and HC. Higher prevalence and grade of glucose metabolic abnormalities were also observed in patients with NAFLD and CHC with steatosis than in cases without steatosis (p < 0.05 and p = 0.001, resp.). Lipid and glucose metabolic abnormalities in patients with CHC were dependent on steatosis. CHC with steatosis and NAFLD were associated with insulin resistant type dyslipidemia, with total cholesterol and LDL-cholesterol being generally lower in CHC.

In patients with nonalcoholic fatty liver disease (NAFLD) an increased cardiovascular risk is present, but the influence of diabetes mellitus (DM) is not yet clear. The aim of this study was to evaluate and compare the frequency and the degree of deviations of cardiometabolic risk factors in NAFLD patients with and without newly diagnosed DM type 2. In 250 patients with NAFLD (201- without DM, 49 - with DM) cardiometabolic risk factors, FRS and SCORE were evaluated. Carotid intima media thickness (CIMT) was measured in 80 cases (19 with DM). In comparison of the both groups, there was no differences regarding the categories of weight and BMI, waist circumference, the frequency and the type of dyslipidemia, insulin levels, HOMA-IR> 2 and insulin > 100 mU/l during OGTT, as well as AST and ALT levels. The patients with NAFLD and diagnosed DM were older compared to those without DM (?<0.001). In this group of cases, the frequency, and the number of MS components, the frequency of arterial hypertension, mean levels of ????-IR, GGT, ferritin, FRS and SCORE were significantly higher compared to patients without DM (?<0.05 -0.001). We also observed more severe steatosis and advanced fibrosis (p=0.018-0.002) in NAFLD patients with DM type 2. CIMT was similar between the both groups.

Objectives: In last years the relationship between early atherosclerosis and nonalcoholic fatty liver disease (NAFLD) has been investigated intensively. The aim of this study was to characterize the metabolic changes associated with atherosclerosis, as well as carotid intima-media thickness (c-IMT), in patients with primary NAFLD without cardiovascular disease.

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)