The heart failure specialists of tomorrow: a network for young cardiovascular scientists and clinicians.

The "Heart failure specialists of Tomorrow" (HoT) group gathers young researchers, physicians, basic scientists, nurses and many other professions under the auspices of the Heart Failure Association of the European Society of Cardiology. After its foundation in 2014, it has quickly grown to a large group of currently 925 members. Membership in this growing community offers many advantages during, before, and after the 'Heart Failure and World Congress on Acute Heart Failure'. These include: eligibility to receive travel grants, participation in moderated poster sessions and young researcher and clinical case sessions, the HoT walk, the career café, access to the networking opportunities, and interaction with a large and cohesive international community that constantly seeks multinational collaborations.

Clinical and genetic challenges in a family with history of childhood polyp, aortopathy, and clinical diagnosis of hereditary hemorrhagic teleangiectasia (HHT).

Hereditary hemorrhagic teleangiectasia (HHT) is a genetic disorder, characterized by abnormal vessel formation and arteriovenous malformations (AVMs). The so-called "Curaçao criteria" are most commonly employed for the purposes of clinical diagnosis. However, children may not exhibit the full magnitude of symptoms and the Curaçao criteria appear to be less sensitive in this setting. We describe a family, in which two members were clinically diagnosed with HHT and referred for genetic testing. As there were phenotypic features suggesting the high likelihood of combined syndrome of juvenile polyposis with hereditary hemorrhagic teleangiectasia (JPHT), we proceeded with genetic testing of SMAD4 gene as initial step, which revealed a novel frameshift mutation. This case shows the variety of challenges that clinicians and genetic laboratories may face in complex cases such as combined JPHT syndrome. Knowledge of the syndrome features is of paramount importance as they could frequently point at the most appropriate gene to be tested.

Stool DNA methylation assays in colorectal cancer screening.

Colorectal cancer (CRC) is fourth most common cancer in men and third in women worldwide. Developing a diagnostic panel of sensitive and specific biomarkers for the early detection of CRC is recognised as to be crucial for early initial diagnosis, which in turn leads to better long term survival. Most of the research on novel potential CRC biomarkers in the last 2 decades has been focussed on stool DNA analysis. In this paper, we describe the recent advances in non-invasive CRC screening and more specifically in molecular assays for aberrantly methylated BMP3 and NDRG4 promoter regions. In several research papers these markers showed superior rates for sensitivity and specificity in comparison to previously described assays. These tests detected the majority of adenomas ≥ 1 cm in size and the detection rates progressively increased with larger adenomas. The methylation status of the BMP3 and NDRG4 promoters demonstrated effective detection of neoplasms at all sites throughout the colon and was not affected by common clinical variables. Recently, a multitarget stool DNA test consisting of molecular assays for aberrantly methylated BMP3 and NDRG4 promoter regions, mutant KRAS and immunochemical assay for human haemoglobin has been made commercially available and is currently reimbursed in the United States. Although this is the most sensitive non-invasive CRC screening test, there is the need for further research in several areas - establishment of the best timeframe for repeated DNA stool testing; validation of the results in populations outside of North America; usefulness for surveillance and prognosis of patients; cost-effectiveness of DNA stool testing in real-life populations.

Interobserver and intraobserver variability of flow-mediated vasodilatation of the brachial artery.

Flow-mediated endothelial-dependent vasodilatation (FMD) of the brachial artery is a method capable of detecting endothelial dysfunction. In order to implement this method in future clinical research studies, its reproducibility and precision have to be assessed. The aim of the study is to evaluate the inter- and intraobserver variability of FMD performed in our department. We investigate 40 patients. FMD is measured by two independent observers to test the interobserver variability, and repeated by the first observer to test the intraobserver variability. We compare the baseline and post-ischemic diameter of the brachial artery and the percent dilatation. The correlation coefficients for these comparisons are high (>0.92) with a significance of less than 0.001. The inter- and intraobserver variability is further tested comparing the mean values of the baseline and post ischemic diameter of the brachial artery and the percent dilatation. The absolute values of the mean paired differences and the standard deviations (SDs) of the differences are 0.02850 +/- 0.05942, P = 0.004, 0.01175 +/- 0.08177, P = 0.369 and 0.28375 +/- 1.61561, P = 0.273, respectively for the interobserver variability and 0.00475 +/- 0.04663, P = 0.523, 0.00050 +/- 0.05267, P = 0.952 and 0.15725 +/- 1.19922, P = 0.412, respectively for the intraobserver variability. It can be concluded that the inter- and intraobserver variability for FMD performed in our department is acceptable. FMD can be performed precisely and accurately, with a satisfactory reproducibility and can be safely and reliably implemented in future clinical research studies.