Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Bainbridge-Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, and distinctive facial features. In this retrospective study, we analyzed 22 Spanish individuals with BRPS, aiming to perform a detailed clinical and molecular description and establish a genotype-phenotype correlation.

A Riemannian multimodal representation to classify parkinsonism-related patterns from noninvasive observations of gait and eye movements.

Parkinson's disease is a neurodegenerative disorder principally manifested as motor disabilities. In clinical practice, diagnostic rating scales are available for broadly measuring, classifying, and characterizing the disease progression. Nonetheless, these scales depend on the specialist's expertise, introducing a high degree of subjectivity.

Dissolution Thermodynamics of the Solubility of Sulfamethazine in (Acetonitrile + 1-Propanol) Mixtures.

: Solubility is one of the most important parameters in the research and development processes of the pharmaceutical industry. In this context, cosolubility is one of the most used strategies to improve the solubility of poorly soluble drugs, besides allowing to identify some factors involved in the dissolution process. The aim of this research is to evaluate the solubility of sulfamethazine in acetotinitrile + 1-propanol cosolvent mixtures at 9 temperatures (278.

Phase change materials for thermal energy storage in industrial applications.

This study reports the results of the screening process done to identify viable phase change materials (PCMs) to be integrated in applications in two different temperature ranges: 60-80 °C for mid-temperature applications and 150-250 °C for high-temperature applications. The comprehensive review involved an extensive analysis of scientific literature and commercial material datasheets. A total of 65 PCMs for mid-temperature applications and 36 PCMs for high-temperature applications were identified through this extensive search.

Single-nucleus and spatial landscape of the sub-ventricular zone in human glioblastoma.

The sub-ventricular zone (SVZ) is the most well-characterized neurogenic area in the mammalian brain. We previously showed that in 65% of patients with glioblastoma (GBM), the SVZ is a reservoir of cancer stem-like cells that contribute to treatment resistance and the emergence of recurrence. Here, we build a single-nucleus RNA-sequencing-based microenvironment landscape of the tumor mass and the SVZ of 15 patients and two histologically normal SVZ samples as controls.