Searchable abstracts of presentations at key conferences in endocrinology

ea0063p494 | Calcium and Bone 2 | ECE2019

Multiglandular parathyroid disease in patients with primary hyperparathyroidism and inconclusive conventional imaging

Zajickova Katerina , Bendlova Bela

Abstract: The incidence of multiglandular parathyroid disease (MGD) varies in the range 7–33%. Negative preoperative imaging is a strong predictor of MGD in patients with primary hyperparathyroidism (PHPT). We retrospectively evaluated a cohort of 13 patients with PHPT and inconclusive MIBI scintigraphy and/or neck ultrasound (mean age 64 years, total calcium 2.74 mmol/l and parathyroid hormone (PTH) 114 ng/l). All subjects subsequently underwent additional imaging with f...

ea0070aep357 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020

Different steroidogenesis in patients with alzheimer’s disease and Type 2 diabetes mellitus

Vankova Marketa , Hill Martin , Vcelak Josef , Vejrazkova Daniela , Bendlova Bela

Alzheimer’s disease (AD) is a neurodegenerative diseasethat is manifested by a progressive loss of cognitive and behavioral function. In previous studies, we have constructed a predictive model for the classification of AD patients based on levels of circulating steroids and their polar conjugates.Both AD and Type 2 diabetes mellitus(T2DM) are well known to affect the levels of some steroid hormones, however, in the opposite direction, and in a gen...

ea0022p326 | Diabetes | ECE2010

Pancreatic insulin secretion in women with polycystic ovary syndrome

Vrbikova Jana , Bilek Radovan , Vankova Marketa , Vondra Karel , Bendlova Bela

Aim: To study the insulin sensitivity and secretion in women with polycystic ovary syndrome (PCOS).Subjects and methods: Thirty-eight women with PCOS (age 26.1±4.1 years, BMI 20.9±2.0 kg/m2) and 81 control healthy women (age 25.8±5.2 years, BMI 21.1±2.3 kg/m2) underwent oral glucose tolerance test (OGTT). Insulin resistance was evaluated as oral glucose index (OGIS); Matsuda and HOMA-IR, insulin secretion was cal...

ea0022p430 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Intronic polymorphism IVS14-24G/A of the RET proto-oncogene seems to be protective for sporadic medullary thyroid carcinoma development

Vaclavikova Eliska , Sykorova Vlasta , Dvorakova Sarka , Vlcek Petr , Bendlova Bela

Background and aims: Medullary thyroid carcinoma (MTC) occurs as a sporadic or less commonly as an inherited form which comprises multiple endocrine neoplasia (MEN) type 2A and 2B and familial MTC. Whereas over 95% of patients with MEN2 syndrome have a germline missense mutation in the RET proto-oncogene, the detection rate of germline mutations in FMTC patients is lower as well as the detection rate of somatic mutations in sporadic MTC tumor tissues. In this context, s...

ea0014p99 | (1) | ECE2007

The genetic association of medullary thyroid carcinoma with Hirschsprung’s disease

Dvorakova Sarka , Vaclavikova Eliska , Skaba Richard , Vlcek Petr , Bendlova Bela

Medullary Thyroid Carcinoma (MTC) can be associated with Hirschsprung’s disease (HSCR). Mutations in exon 10 of the RET proto-oncogene were found in patients with co-occurrence of HSCR and MTC. The aim of the study was to screen the MTC risk exons in patients with HSCR. The genetic analysis comprised 73 HSCR patients (53 males, 20 females) who were operated on and followed-up during 2001-2006. The cohort consisted of 48 patients with classical HSCR, 11 with long colonic a...

ea0073aep181 | Diabetes, Obesity, Metabolism and Nutrition | ECE2021

Glucagon levels in women with Alzheimer’s disease

Vankova Marketa , Vcelak Josef , Vejrazkova Daniela , Bendlova Bela

Alzheimer’s disease (AD) is a neurodegenerative disease that manifests itself in the gradual loss of cognitive and behavioral functions. In humans, glucagon is processed in pancreatic alpha cells located next to insulin-secreting beta cells, suggesting a local interaction. Glucagon is also produced in the intestinal L-cells and in small amounts in the hypothalamus. The main function of glucagon is to counteract the effects of insulin and thus maintain balanced blood gluco...

ea0081ep294 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022

The melatonin receptor gene polymorphism rs10830963 is not associated with significant differences in sleep patterns and biorhythms.

Vejrazkova Daniela , Chocholova Denisa , Vankova Marketa , Lukasova Petra , Vcelak Josef , Sladek Martin , Sumova Alena , Bendlova Bela

Introduction: Melatonin is a crucial hormone for controlling sleep rhythms and disruption of its natural secretory rhythmicity is considered to be one of the causes of type 2 diabetes mellitus. The MTNR1B gene encodes the melatonin receptor. Polymorphism rs10830963 in this gene shows an association with fasting blood glucose and impaired glucose tolerance. Current studies suggest that carriers of the minor allele G have a slightly shifted cycle of melatonin secretion toward a ...

ea0037oc6.5 | Thyroid | ECE2015

Search for new candidate genes in RET mutation-negative families with hereditary medullary thyroid carcinoma using next generation sequencing

Vaclavikova Eliska , Dvorakova Sarka , Sykorova Vlasta , Vcelak Josef , Halkova Tereza , Vlcek Petr , Bendlova Bela

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 ...

ea0070aep864 | Thyroid | ECE2020

Multiple endocrine neoplasia Type 1 (Men1) – genetic variants of Men1 gene in the czech population

Lukasova Petra , kuklik Miloslav , Vankova Marketa , Vondrkova Nela , Vejrazkova Daniela , Moravcova Jitka , Vcelak Josef , Bendlova Bela

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary tumor syndrome. Common manifestations include more than 20 tumors of the parathyroid, pituitary and pancreatic glands and others non-endocrine tumors. The majority of patients carry a germline mutation in a tumor-suppressor gene MEN1, that encodes nuclear protein menin, ubiquitously expressed. So fare, more than 600 germline or somatic mutations have been reported over the...

ea0022oc1.3 | Diabetes and obesity | ECE2010

NME7: a new candidate gene for T2DM

Vcelak Josef , Seda Ondrej , Vankova Marketa , Lukasova Petra , Vrbikova Jana , Tremblay Johanne , Bendlova Bela , Hamet Pavel

The identification of genomic determinants responsible for common multifactorial diseases like type 2 diabetes mellitus (T2DM) is facilitated in large families from relatively genetically-isolated populations and can extend results from GWS based on a case–control cohort to detect rare alleles with strong effects. In order to search for sequence variants conferring risk of T2DM we previously conducted a genome-wide linkage study in 108 French–Canadian families from t...