Enhancing variant of uncertain significance (VUS) interpretation in neurogenetics: collaborative experiences from a tertiary care centre.

Background: The findings of variants of uncertain significance (VUS) on a clinical genetic testing report pose a challenge for attending healthcare professionals (HCPs) in patient care. Here, we describe the outcomes of multidisciplinary VUS Rounds, implemented at a neurological disease tertiary care centre, which aid in interpreting and communicating VUS identified in our neurogenetics patient population.

Methods: VUS Rounds brought together genetic counsellors, molecular geneticists and scientists to evaluate VUS against genomic and phenotypic evidence and assign an internal temperature classification of 'VUS Hot', 'True VUS' or 'VUS Cold', corresponding to potential pathogenicity.

Bioinspired cooperation in a heterogeneous robot swarm using ferrofluid artificial pheromones for uncontrolled environments.

This article presents a novel bioinspired technology for the cooperation and coordination of heterogeneous robot swarms in uncontrolled environments, utilizing an artificial pheromone composed of magnetized ferrofluids. Communication between different types of robots is achieved indirectly through stigmergy, where messages are inherently associated with specific locations. This approach is advantageous for swarm experimentation outside controlled laboratory spaces, where localization is typically managed through centralized camera systems (e.

Mpox cases finding: Evaluation of a Primary Care detection program in the Northern Metropolitan area from Barcelona (Spain).

Main Aim: In July 2022, an extensive outbreak of Mpox (monkeypox) was considered by WHO as a Public Health Emergency. The objective of this study is to describe the obtained results from a Mpox case detection program in a semi-urban healthcare area where approximately 420 Primary Care physicians work.

Design: An observational prospective study performed between June 01, 2022 and December 31, 2023.

Haptoglobin gene polymorphism and iron profile in sickle cell disease patients with inflammation in Yaounde, Cameroon.

Background: Major sickle cell syndromes are the most common hemoglobinopathy in the world. The sickle cell patients are subjected to several factors causing inflammation, and the genetic identification of each individual allows to focus the possibility of allelic variations influence of a specific gene and then the polymorphism. This study aims at determining the distribution of HP gene (OMIM#140100) and their involvement on hematological parameters and the iron profile in the sickle cell patients presenting an inflammation condition during major sickle cell syndromes in Cameroun.

Treatment of COVID-19 pneumonia with low-dose radiotherapy plus standard of care versus standard of care alone in frail patients : The SEOR-GICOR IPACOVID comparative cohort trial.

Purpose: To assess the efficacy of lung low-dose radiotherapy (LD-RT) in the treatment of patients with COVID-19 pneumonia.

Materials And Methods: Ambispective study with two cohorts to compare treatment with standard of care (SoC) plus a single dose of 0.5 Gy to the whole thorax (experimental prospective cohort) with SoC alone (control retrospective cohort) for patients with COVID-19 pneumonia not candidates for admission to the intensive care unit (ICU) for mechanical ventilation.