Functional evaluation and clinical classification of BRCA2 variants.

Germline BRCA2 loss-of function variants, which can be identified through clinical genetic testing, predispose to several cancers. However, variants of uncertain significance limit the clinical utility of test results. Thus, there is a need for functional characterization and clinical classification of all BRCA2 variants to facilitate the clinical management of individuals with these variants.

The Lebanese health economic evaluation guideline.

Background: Economic evaluation guidelines (EEGs) serve as a valuable tool to assist appraisers in making consistent and transparent recommendations, standardize EE studies, enhance their quality, and minimize methodological uncertainties. As other LMICs, Lebanon aims for UHC where EEG is a necessity. This paper aims to report on the Lebanese health EEG (LEEG) and its reference case, including the intermediate results leading to the final decisions.

The Added Value of Apparent Diffusion Coefficient and Histogram Analysis in Assessing Treatment Response of Locally Advanced Cervical Cancer.

Objective: The aim of the study is to assess the diagnostic performance of quantitative analysis of diffusion-weighted imaging in assessing treatment response in cervical cancer patients.

Methods: A retrospective analysis was done for 50 patients with locally advanced cervical cancer who received concurrent chemoradiotherapy and underwent magnetic resonance imaging and diffusion-weighted imaging. Treatment response was classified into 4 categories according to RECIST criteria 6 months after therapy completion.

Polygenic Risk Scores in Human Disease.

Background: Polygenic risk scores (PRS) are measures of genetic susceptibility to human health traits. With the advent of large data repositories combining genetic data and phenotypic information, PRS are providing valuable insights into the genetic architecture of complex diseases and are transforming the landscape of precision medicine.

Content: PRS have emerged as tools with clinical utility in human disease.

Diagnosing gastrointestinal infections based on cycle threshold cut-offs of PCR.

This study compared the performance of molecular vs stool culture assays for gastrointestinal infection (GII) detection, with focus on defining cycle threshold (Ct) cut-off values for positive culture results. A total of 6,000 records of patients with suspected GII between October 2022 and February 2023 and registered at Clalit HealthCare Services in Haifa, Israel, were reviewed. Stool samples were collected from all patients with suspected GII.