Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice.

Broad-spectrum genetic tests often lead to the identification of variants of uncertain significance (VUS), a major issue in modern clinical genetics. A fair proportion of VUS may alter the splicing processes, but their interpretation is challenging. This study aimed at providing a classification approach for VUS potentially-affecting splicing by integrating transcript analysis from peripheral blood mRNA into routine diagnostics.

Thermodynamic Langevin equations.

The physical significance of the stochastic processes associated to the generalized Gibbs ensembles is scrutinized here with special attention to the thermodynamic fluctuations of small systems. Differently from the so-called stochastic thermodynamics, which starts from stochastic versions of the first and second law of thermodynamics and associates thermodynamic quantities to microscopic variables, here we consider stochastic variability directly in the macroscopic variables. By recognizing the potential structure of the Gibbs ensembles, when expressed as a function of the potential entropy generation, we obtain exact nonlinear thermodynamic Langevin equations (TLEs) for macroscopic variables, with drift expressed in terms of entropic forces.

Updated Survival Follow-Up for Phase Ib Trial of the Histone Deacetylase Inhibitor Abexinostat With Pazopanib in Patients With Solid Tumor Malignancies.

Purpose: Histone deacetylase (HDAC) inhibition downregulates hypoxia-inducible factor-1α and modulates multiple metabolomic pathways relevant in cancer. Here we report a potential novel biomarker to predict exceptional responders (>3 years) in patients receiving HDAC and vascular endothelial growth factor (VEGF) inhibition.

Patients And Methods: Patients with solid tumor malignancies were enrolled in this phase Ib trial of abexinostat (4/7 ×21 days) and pazopanib (28/28 days), with a dose expansion in renal cell carcinoma (RCC).

Use of Low-Cost Sensors to Study Atmospheric Particulate Matter Concentrations: Limitations and Benefits Discussed through the Analysis of Three Case Studies in Palermo, Sicily.

The paper discusses the results of the concentrations of atmospheric particulate matter, in the PM and PM fractions, acquired by two low-cost sensors. The research was carried out from 1 July 2023 to 30 June 2024, in Palermo, Sicily. The results obtained from two systems equipped with the same sensor model were compared.

Treatment strategies with electrochemotherapy for limb in-transit melanoma: Real-world outcomes from a European, retrospective, cohort study.

Background: This study analysed treatment strategies with electrochemotherapy (ECT) in melanoma with limb in-transit metastases (ITM).

Methods: We audited AJCC v.8 stage IIIB-IIID patients treated across 22 centres (2006-2020) within the International Network for Sharing Practices of ECT (InspECT).