Mismatch repair (MMR) and microsatellite instability (MSI) phenotypes across solid tumors: A comprehensive cBioPortal study on prevalence and prognostic impact.

Mismatch repair deficiency (MMR-d) and microsatellite instability (MSI) are prognostic and predictive biomarkers in oncology. Current testing for MMR/MSI relies on immunohistochemistry (IHC) for MMR proteins and molecular assays for MSI detection. This combined diagnostic strategy, however, lacks tumor specificity and does not account for gene variants.

Comparing the Different Sets of Item-Level Diagnostic Criteria of the Coma Recovery Scale-Revised (CRS-R): A Measurement-Based Approach Driven by Rasch Analysis.

Objectives: (1) To replicate the assessment of the internal construct validity of the Coma Recovery Scale-Revised (CRS-R) within the Rasch Measurement Theory framework using a larger multicenter sample size and (2) to compare the different sets of item-level diagnostic criteria against the measurement ruler constructed from Rasch analysis to understand how those criteria relate to the overall level of persons' consciousness.

Design: Multicenter retrospective study.

Setting: Seven centers.

Deep learning algorithm on H&E whole slide images to characterize alterations frequency and spatial distribution in breast cancer.

The tumor suppressor is frequently mutated in hormone receptor-negative, HER2-positive breast cancer (BC), contributing to tumor aggressiveness. Traditional ancillary methods like immunohistochemistry (IHC) to assess functionality face pre- and post-analytical challenges. This proof-of-concept study employed a deep learning (DL) algorithm to predict mutational status from H&E-stained whole slide images (WSIs) of BC tissue.

Clinical Efficacy and Safety of Ultrasound-Guided Injection with Low-Molecular-Weight Peptides from Hydrolyzed Collagen in Patients with Partial Supraspinatus Tendon Tears: A Pilot Study.

Background: This study evaluates the clinical efficacy and safety of two ultrasound (US)-guided injections of a 5 mg/1 mL low-molecular-weight peptide (LWP) solution derived from hydrolyzed bovine collagen in patients with supraspinatus partial tendon tears.

Methods: A total of 21 patients with symptomatic partial tears of the supraspinatus tendon, detected by US, were consecutively enrolled and received one injection at a baseline visit (T0) and one after two weeks (T1). The primary outcome measure was the visual analogue scale (VAS) for pain.

Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy.

Background: Long-chain fatty acid oxidation disorders (LC-FAOD) are rare and potentially life-threatening diseases that cause deficient energy production and accumulation of toxic metabolites. Despite dietary management, adherence to maximum fasting guidelines, restricted long-chain triglyceride intake and supplementation with medium-chain triglyceride (MCT) oil (current standard of care), most patients experience recurrent decompensation episodes that can require hospitalisation. Herein, we analysed the effectiveness and safety of triheptanoin (a highly purified, synthetic medium odd-chain triglyceride) treatment in a cohort of Italian patients with LC-FAOD.