The Potential of Intertwining Gene Diagnostics and Surgery for Mitral Valve Prolapse.

Mitral valve prolapse (MVP) is common among heart valve disease patients, causing severe mitral regurgitation (MR). Although complications such as cardiac arrhythmias and sudden cardiac death are rare, the high prevalence of the condition leads to a significant number of such events. Through next-generation gene sequencing approaches, predisposing genetic components have been shown to play a crucial role in the development of MVP. After the discovery of the X-linked inheritance of filamin A, autosomal inherited genes were identified. In addition, the study of sporadic MVP identified several genes, including DZIP1, TNS1, LMCD1, GLIS1, PTPRJ, FLYWCH, and MMP2. The early screening of these genetic predispositions may help to determine the patient population at risk for severe complications of MVP and impact the timing of reconstructive surgery. Surgical mitral valve repair is an effective treatment option for MVP, resulting in excellent short- and long-term outcomes. Repair rates in excess of 95% and low complication rates have been consistently reported for minimally invasive mitral valve repair performed in high-volume centers. We therefore conceptualize a potential preventive surgical strategy for the treatment of MVP in patients with genetic predisposition, which is currently not considered in guideline recommendations. Further genetic studies on MVP pathology and large prospective clinical trials will be required to support such an approach.

Development of a research mentorship guide and consensus statement for low- and middle-income countries: Results of a modified Delphi process.

BACKGROUND: Institutional research mentorship is a form of mentorship whereby institutions foster mentor-mentee relationships. Research mentorship improves research effectiveness and supports relationships. However, resources are needed in order to institutionalize research mentorship tailored to low- and middle- income countries (LMICs). The aim of this study was to develop a consensus document on institutionalizing research mentorship through a modified Delphi process as part of the practical guide development process. METHODS: This study used a two-round modified Delphi process, which is an iterative, structured approach of consensus decision making. Each participant was asked about a series of items related to research mentorship using Likert scale questions. Agreement for each item was pre-defined as ≥80% of participants rating the item as "agree" or "strongly agree." The items that reached agreement, were then discussed during round two at an in-person conference in Ethiopia. A separate group of individuals only participated virtually. For the final consensus survey, response rates and commenting rates (participants who wrote two or more comments) were compared among conference and non-conference participants. RESULTS: The Delphi process led to the inception of three main themes in terms of developing research mentorship: leveraging existing resources, measuring and evaluating institutional mentorship, and encouraging a research mentorship life cycle. During the virtual first round, 59% (36/61) participants who were emailed completed the survey. In the second round, conference participants had a response rate of 79% (11/14) compared to non-conference participants with a response rate of 45% (21/47). Conference participants had a 100% (11/11) commenting rate whereas non-conference participants had a 38% (8/21) commenting rate. This study achieved consensus in both survey rounds for all 35 items on the consensus document. CONCLUSIONS: The data suggest that an in-person conference may increase participant engagement. The consensus developed through a modified Delphi method directly informed a practical guide on institutionalizing research mentorship in LMICs.

Ex Vivo High-Resolution Magic Angle Spinning (HRMAS) 1H NMR Spectroscopy for Early Prostate Cancer Detection.

The aim of our study was to assess ex vivo HRMAS (high-resolution magic angle spinning) 1H NMR spectroscopy as a diagnostic tool for early PCa detection by testing whether metabolomic alterations in prostate biopsy samples can predict future PCa diagnosis. In a primary prospective study (04/2006-10/2018), fresh biopsy samples of 351 prostate biopsy patients were NMR spectroscopically analyzed (Bruker 14.1 Tesla, Billerica, MA, USA) and histopathologically evaluated. Three groups of 16 patients were compared: group 1 and 2 represented patients whose NMR scanned biopsy was histobenign, but patients in group 1 were diagnosed with cancer before the end of the study period, whereas patients in group 2 remained histobenign. Group 3 included cancer patients. Single-metabolite concentrations and metabolomic profiles were not only able to separate histobenign and malignant prostate tissue but also to differentiate between samples of histobenign patients who received a PCa diagnosis in the following years and those who remained histobenign. Our results support the hypothesis that metabolomic alterations significantly precede histologically visible changes, making metabolomic information highly beneficial for early PCa detection. Thanks to its predictive power, metabolomic information can be very valuable for the individualization of PCa active surveillance strategies.