TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.

Background: Germline heterozygous pathogenic variants (PVs) in TP53 cause Li-Fraumeni syndrome (LFS), a condition associated with increased risk of multiple tumor types. As the associated cancer risks were refined over time, clinical criteria also evolved to optimize diagnostic yield. The implementation of multi-gene panel germline testing in different clinical settings has led to the identification of TP53 PV carriers outside the classic LFS-associated cancer phenotypes, leading to a broader cancer phenotypic redefinition and to the renaming of the condition as "heritable TP53-related cancer syndrome" (hTP53rc).

Analysis of the Impact of the Post-Consumer Film Waste Scenario and the Source of Electricity on the Harmfulness of the Mass Packaging Process.

Life cycle analysis (LCA) is a popular tool for determining the environmental impacts of a product in use. The aim of this study is to carry out a life cycle analysis, gate-to-gate, of a mass packaging process using a polyethylene shrinking film with a focus on energy consumption, raw material use and associated emissions, and film post-consumer disposal scenarios. Two different scenarios for the disposal of the shrinking film used in the packaging process were analyzed, namely recycling and landfills.

A Combinatory Therapy of Metformin and Dexamethasone Reduces the Foreign Body Reaction to Intraneural Electrodes.

Neural electrodes used for bidirectional communication between the nervous system and external devices like prosthetic limbs have advanced in neuroprosthetic applications. However, their effectiveness is hindered by the foreign body reaction, a natural immune response causing inflammation and fibrosis around the implanted device. This process involves protein adsorption, immune cell recruitment, cytokine release, and fibroblast activation, leading to a fibrous capsule formation and a decrease in electrode functionality.

N-Amino Peptide-Graphene Quantum Dot Loaded Small Extracellular Vesicles for Targeted Therapy of Tauopathies.

Tauopathies, a group of neurodegenerative disorders, are characterized by the abnormal aggregation of tau proteins into neurofibrillary tangles (NFTs), driving synaptic dysfunction, neuronal loss, and disease progression through tau aggregate propagation. Graphene quantum dots (GQDs) functionalized with - cysteine ( -GQDs) have shown promise in inhibiting tau aggregation and transmission π-π stacking and electrostatic interactions with tau proteins. However, the non-specific binding of GQDs to various proteins in the physiological environment, such as serum albumin, limits their clinical translation.

[Characteristics of Hospitalized Adults with Severe Hyponatremia: A Comparison of Patients with Severe and Very Severe Hyponatremia in Terms of Etiology, Symptoms, Treatment Response, and Mortality].

Unlabelled: Hyponatremia is the most common hydroelectrolyte disorder in hospitalized patients. It is unclear whether there are differences between severe hyponatremia (<125 mEq/L) and very severe hyponatremia (<115 mEq/L) in terms of etiology, response to therapy, and mortality.

Aim: Describe the etiology, symptoms, response to treatment and mortality of hospitalized adults with severe and very severe hyponatremia.