Identification of Lynch syndrome risk variants in the Romanian population.

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadTwo familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH, respectively. No information is available on the presence of high-risk CRC mutations in the Romanian population. We performed whole-genome sequencing of 61 Romanian CRC cases with a family history of cancer and/or early onset of disease, focusing the analysis on candidate variants in the LS and FAP genes. The frequencies of all candidate variants were assessed in a cohort of 688 CRC cases and 4567 controls. Immunohistochemical (IHC) staining for MLH1, MSH2, MSH6, and PMS2 was performed on tumour tissue. We identified 11 candidate variants in 11 cases; six variants in MLH1, one in MSH6, one in PMS2, and three in APC. Combining information on the predicted impact of the variants on the proteins, IHC results and previous reports, we found three novel pathogenic variants (MLH1:p.Lys84ThrfsTer4, MLH1:p.Ala586CysfsTer7, PMS2:p.Arg211ThrfsTer38), and two novel variants that are unlikely to be pathogenic. Also, we confirmed three previously published pathogenic LS variants and suggest to reclassify a previously reported variant of uncertain significance to pathogenic (MLH1:c.1559-1G>C).European Union EE

Use of Digital Healthcare Communication to Improve Urologists’ Surveillance of Lithiasis Patients Treated with Internal Urinary Drainage Pre- and Post-COVID-19 Period

The COVID-19 pandemic has greatly affected lithiasis patients, which has led to an increase in the number of internal stents that have been installed. In this paper, two studies were carried out, a clinical study and a quantitative study. The aim of the first study was to evaluate the incidence and the prevalence of bacterial urinary colonization in patients with obstructive urolithiasis who needed internal stents implanted. In the second study, a multiple linear regression was created to identify the opinion of urologists regarding the importance of using digital technologies to improve the communication process. The result of the clinical study illustrates that the prevalence of urinary colonization in patients with internal stents carried out for obstructive urolithiasis was 35%, with this value being influenced by co-infection with COVID-19. The results of the quantitative study illustrated the fact that urologists are open to using new online technologies to facilitate communication with patients. The results have high importance for both doctors and patients, illustrating the main factors that have the ability to influence the communication process. The hospital managers should take into account the results obtained in this study when they choose to use certain online communication technologies with patients

Unified CACSD Toolbox for Hybrid Simulation and Robust Controller Synthesis with Applications in DC-to-DC Power Converter Control

The current article presents the design, implementation, validation, and use of a Computer-Aided Control System Design (CACSD) toolbox for nonlinear and hybrid system uncertainty modeling, simulation, and control using μ synthesis. Remarkable features include generalization of classical system interconnection operations to nonlinear and hybrid systems, automatic computation of equilibrium points for nonlinear systems, and optimization of least conservative uncertainty bounds, with direct applicability for μ synthesis. A unified approach is presented for the step-down (buck), step-up (boost), and single-ended primary-inductor (SEPIC) converters to showcase the use and flexibility of the toolbox. Robust controllers were computed by minimization of the H∞ norm of the augmented performance systems, encompassing a wide range of uncertainty types, and have been designed using the well-known mixed-sensitivity closed loop shaping μ synthesis method

Same Clinical Reality of Spontaneous Rupture of the Common Iliac Artery with Pseudoaneurysm Formation—Comparison of Two Therapeutical Solutions, Endovascular Stent-Graft and Open Surgical Correction, for Two Cases and Review of the Literature

The incidence of isolated iliac artery aneurysms is approximately 2% and common iliac artery pseudoaneurysms are even rarer. A pseudoaneurysm is a localized hemorrhage as opposed to an actual aneurysm, which affects the entire vascular wall. They are typically asymptomatic and only detectable accidentally while looking for other causes. If large and symptomatic, they typically exhibit pressure symptoms as a result of the compression of the structures around them. Common symptoms include generalized stomach pain, urological problems, gastrointestinal bleeding, and neurological symptoms such as leg paralysis or sciatica-like back pain. Rarely, they may exhibit hemodynamic instability together with an aneurysm rupture, which has a high fatality rate. Due to the unique presentation, the diagnosis is typically rarely made and there is little experience with treating it. We report two cases of common iliac artery pseudoaneurysm found in two patients who had no notable medical history and who we chose to repair through the endovascular technique in the first case, an approach that has gained more ground for vascular repair worldwide, making it the current go-to method, and for the second case we chose a more traditional approach, through open surgery