Identification of Lynch syndrome risk variants in the Romanian population.

Two 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).

Challenges Regarding the Value of Routine Perioperative Transesophageal Echocardiography in Mitral Valve Surgery.

BACKGROUND AND OBJECTIVES: Transesophageal echocardiography (TEE) is considered an indispensable tool for perioperative evaluation in mitral valve (MV) surgery. TEE is routinely performed by anesthesiologists competent in TEE; however, in certain situations, the expertise of a senior cardiologist specializing in TEE is required, which incurs additional costs. The purpose of this study is to determine the indications for specialized perioperative TEE based on its utility and the correlation between intraoperative TEE diagnoses and surgical findings, compared with routine TEE performed by an anesthesiologist. MATERIALS AND METHODS: We conducted a three-year prospective study involving 499 patients with MV disease undergoing cardiac surgery. Patients underwent intraoperative and early postoperative TEE and at least one other perioperative echocardiographic evaluation. A computer application was dedicated to calculating the utility of each type of specialized TEE indication depending on the type of MV disease and surgical intervention. RESULTS: The indications for performing specialized perioperative TEE identified in our study can be categorized into three groups: standard, relative, and uncertain. Standard indications for specialized intraoperative TEE included establishing the mechanism and severity of MR (mitral regurgitation), guiding MV valvuloplasty, diagnosing associated valvular lesions post MVR (mitral valve replacement), routine evaluations in triple-valve replacements, and identifying the causes of acute, intraoperative, life-threatening hemodynamic dysfunction. Early postoperative specialized TEE in the intensive care unit (ICU) is indicated for the suspicion of pericardial or pleural effusions, establishing the etiology of acute hemodynamic dysfunction, and assessing the severity of residual MR post valvuloplasty. CONCLUSIONS: Perioperative TEE in MV surgery can generally be performed by a trained anesthesiologist for standard measurements and evaluations. In certain cases, however, a specialized TEE examination by a trained senior cardiologist is necessary, as it is indirectly associated with a decrease in postoperative complications and early postoperative mortality rates, as well as an improvement in immediate and long-term prognoses. Also, for standard indications, the correlation between surgical and TEE diagnoses was superior when specialized TEE was used.

Challenges of Integrating New Technologies for Orthopedic Doctors to Face up to Difficulties during the Pandemic Era.

In the field of orthopedics, competitive progress is growing faster because new technologies used to facilitate the work of physicians are continuously developing. Based on the issues generated in the pandemic era in this field, a research study was developed to identify the intention of orthopedic doctors to integrate new medical technologies. The survey was based on a questionnaire that was used for data collection. The quantitative study registered a sample of 145 orthopedic doctors. The data analysis was performed based on the IBM SPSS program. A multiple linear regression model was applied, which analyzed how the independent variables can influence the dependent variables. After analyzing the data, it was observed that the intention of orthopedic doctors to use new medical technologies is influenced by the advantages and disadvantages perceived by them, the perceived risks, the quality of the medical technologies, the experience of physicians in their use, and their receptivity to other digital tools. The obtained results are highly important both for hospital managers and authorities, illustrating the main factors that influence doctors to use emergent technologies in their clinical work.

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.

Students' perceptions on how e-learning platforms in universities should be improved to increase the quality of educational services.

The Covid-19 pandemic has made a strong mark on the education system globally. Universities have been compelled to take urgent measures to provide young people with access to education, leading them to invest significant resources in building their own e-learning platforms. Because they were created and implemented in a relatively short time, certain e-learning platforms presented several issues, underscoring the need for improvement. This paper aims to identify students' perceptions of how e-learning platforms should be refined in order to increase the quality of online educational services. The research involved a sample of 114 students enrolled in the University of Medicine and Pharmacy Carol Davila in Bucharest. Data collection was conducted using an online questionnaire, and data analysis was performed using the IBM SPSS software. The results indicated that there is room for improvement in the quality of the services offered. To achieve this, further steps should focus on the interface of the online platforms, optimizing the presentation of educational materials, and refining the communication between teachers and students. Furthermore, other online tools (e.g., blogs, forums, or mobile applications) should be incorporated within these platforms, in order to facilitate the integrative distribution of information.