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).

Improving the Evaluation of Aesthetic Outcomes in DIEP Flap Breast Reconstruction: Validation of the Aesthetic Grading Tool.

Introduction: This study aimed to develop and validate an aesthetic grading tool (AGT) for bilateral DIEP flap breast reconstruction and investigate the correlation of BREAST-Q scores with perceived aesthetic outcomes.

Methods: The AGT utilized a Likert scale to rate aesthetic outcomes based on photographs of post-reconstruction breasts. The validation involved iterative testing with healthcare providers and patients.

High removal of PS and PET microplastics from tap water by using FeO porous microparticles and photothermal irradiation with NIR light.

This work reports the synthesis of FeO (FeO) microparticles using the Pechini method and their use to remove microplastics from tap water. The analysis by electronic microscopy revealed that the FeO microparticles (FeMicroPs) have a porous structure and are formed by interconnected grains with sizes of 80-120 nm. In addition, the X-ray diffraction analysis pointed out that the FeMicroPs are composed of γ- FeO and α- FeO phases.

α,ω-Alkanedibromides Form Low Conductance Chemisorbed Junctions with Silver Electrodes.

Chemical groups capable of connecting molecules physically and electrically between electrodes are of critical importance in molecular-scale electronics, influencing junction conductance, variability, and function. While the development of such linkage chemistries has focused on interactions at gold, the distinct reactivity and electronic structure of other electrode metals provides underexplored opportunities to characterize and exploit new binding motifs. In this work we show that α,ω-alkanedibromides spontaneously form well-defined junctions using silver, but not gold, electrodes through application of the glovebox-based scanning tunneling microscope-based break junction method.

Resolving molecular frontier orbitals in molecular junctions with kHz resolution.

Designing and building single-molecule circuits with tailored functionalities requires a detailed knowledge of the junction electronic structure. The energy of frontier molecular orbitals and their electronic coupling with the electrodes play a key role in determining the conductance of nanoscale molecular circuits. Here, we developed a method for measuring the current-voltage (-) characteristics of single-molecule junctions with a time resolution that is two orders of magnitude higher than previously achieved.

Swimming training prevents obesity installation and normalizes hypothalamic expressions of GLP1 and leptin receptors in adult offspring born in small litters.

Objective: Glucagon-like peptide-1 (GLP1) and leptin (Lep) are afferent signals that regulate energy metabolism. Lactational hypernutrition results in hyperphagia and adiposity in adult life, and these events can be prevented by exercise. We evaluated the effects of swimming training on hypothalamic (GLP1-R) and Lep receptor (Lep-R) gene expressions in lactational hypernutrition-induced obesity.

Can Stereotype Threat and Lift Visual Messages Affect Subsequent Physical Activity? Evidence from a Controlled Experiment Using Accelerometers.

This study investigated how visual messages conveying stereotype threat or lift influenced physical activity performance. Participants ( = 380) were exposed to a stereotype threat, lift, or control condition image and then engaged in a running task. Accelerometers recorded forward-backward movement, upward-downward movement, and sideways balance.

Why old duplicated genes are not thrown away in (paleo)polyploids? Example from the petC gene in Brassica napus.

Duplication of genes at different time period, through recurrent and frequent polyploidization events, have played a major role in plant evolution, adaptation and diversification. Interestingly, some of the ancestral duplicated genes (referred as paleologs), have been maintained for millions of years, and there is still a poor knowledge of the reasons of their retention, especially when testing the phenotypic effect of individual copies by using functional genetic approaches. To fill this gap, we performed functional genetic (CRISPR-Cas9), physiological, transcriptomic and evolutionary studies to finely investigate this open question, taking the example of the petC gene (involved in cytochrome b6/f and thus impacting photosynthesis) that is present in four paleologous copies in the oilseed crop Brassica napus.

Investigation of machine learning algorithms for taxonomic classification of marine metagenomes.

Taxonomic profiling of microbial communities is essential to model microbial interactions and inform habitat conservation. This work develops approaches in constructing training/testing data sets from publicly available marine metagenomes and evaluates the performance of machine learning (ML) approaches in read-based taxonomic classification of marine metagenomes. Predictions from two models are used to test accuracy in metagenomic classification and to guide improvements in ML approaches.

Phase stabilization and optical response in the ultraviolet range, due to terbium concentration in hafnium oxide nanoparticles.

This work reports the influence of terbium trivalent ions on growing kinetics and the phase in hafnium oxide nanoparticles, as well as response to radiation in the range from 256 to 286. The nanoparticles were obtained by the hydrothermal route maintaining the temperature constant and varying the reaction time and the terbium concentration. The results show a gradual change in the phase with the concentration of terbium trivalent ions, going from the monoclinic phase, present at low concentrations, to the tetragonal phase, which appears from dopant concentrations greater than 5% at.

Cooperative Self-Assembly of Dimer Junctions Driven by π Stacking Leads to Conductance Enhancement.

We demonstrate enhanced electronic transport through dimer molecular junctions, which self-assemble between two gold electrodes in π-π stabilized binding configurations. Single molecule junction conductance measurements show that benzimidazole molecules assemble into dimer junctions with a per-molecule conductance that is higher than that in monomer junctions. Density functional theory calculations reveal that parallel stacking of two benzimidazoles between electrodes is the most energetically favorable due to the large π system.

To Operate or Not to Operate? Reconstructive Surgical Burden and Quality of Life of Pediatric Patients with Facial Differences.

Objective: The Craniofacial Condition Quality of Life Scale (CFC-QoL) was used to evaluate the relationship between surgical burden and quality of life (QoL).

Design: Patient-parent dyads completed the CFC-QoL which queries the following QoL domains: Bullying, Peer Problems, Psychological Impact, Family Support, Appearance Satisfaction, and Desire for Appearance Change. Stepwise multivariate linear regressions were performed for each QoL domain.

Evaluation of genome and base editing tools in maize protoplasts.

Introduction: Despite its rapid worldwide adoption as an efficient mutagenesis tool, plant genome editing remains a labor-intensive process requiring often several months of culture to obtain mutant plantlets. To avoid a waste in time and money and to test, in only a few days, the efficiency of molecular constructs or novel Cas9 variants (clustered regularly interspaced short palindromic repeats (CRISPR)-associated protein 9) prior to stable transformation, rapid analysis tools are helpful.

Methods: To this end, a streamlined maize protoplast system for transient expression of CRISPR/Cas9 tools coupled to NGS (next generation sequencing) analysis and a novel bioinformatics pipeline was established.

Studies on the Regioselective Rearrangement of Azanorbornanic Aminyl Radicals into 2,8-Diazabicyclo[3.2.1]oct-2-ene Systems.

Aminyl radicals are nitrogen-centered radicals of interest in synthetic strategies involving C-N bond formation due to their high reactivity. These intermediate radicals are generated by the reaction of an organic azide with tributyltin hydride (BuSnH) in the presence of substoichiometric amounts of azobisisobutyronitrile (AIBN). In this work, we report the regioselective rearrangement of azanorbornanic ([2.

ADAR1 Isoforms Regulate Processing in Idiopathic Pulmonary Fibrosis.

Double-stranded RNA adenosine deaminase 1 (ADAR1) is significantly down-regulated in fibroblasts derived from Idiopathic Pulmonary Fibrosis (IPF) patients, and its overexpression restored levels of , , and . There are two ADAR1 isoforms in humans, ADAR1-p110 and ADAR1-p150, generated by an alternative promoter. is considered an essential microRNA in Pulmonary Fibrosis (PF).

Patiromer for the management of hyperkalemia in heart failure with reduced ejection fraction: the DIAMOND trial.

Aims: To investigate the impact of patiromer on the serum potassium level and its ability to enable specified target doses of renin-angiotensin-aldosterone system inhibitor (RAASi) use in patients with heart failure and reduced ejection fraction (HFrEF).

Methods And Results: A total of 1642 patients with HFrEF and current or a history of RAASi-related hyperkalemia were screened and 1195 were enrolled in the run-in phase with patiromer and optimization of the RAASi therapy [≥50% recommended dose of angiotensin-converting enzyme inhibitor/angiotensin receptor blocker/angiotensin receptor-neprilysin inhibitor, and 50 mg of mineralocorticoid receptor antagonist (MRA) spironolactone or eplerenone]. Specified target doses of the RAASi therapy were achieved in 878 (84.

Controlled masking and targeted release of redox-cycling ortho-quinones via a C-C bond-cleaving 1,6-elimination.

Natural products that contain ortho-quinones show great potential as anticancer agents but have been largely discarded from clinical development because their redox-cycling behaviour results in general systemic toxicity. Here we report conjugation of ortho-quinones to a carrier, which simultaneously masks their underlying redox activity. C-benzylation at a quinone carbonyl forms a redox-inactive benzyl ketol.

Pulse-train versus single-pulse t-EMG stimulation for intraoperative neurophysiologic monitoring of thoracic pedicle screws in adolescent idiopathic scoliosis.

Objective: To assess the PTS method in neuromonitoring of thoracic pedicle screws in a young cohort of AIS patients. The accuracy of both PTS (Pulse-train stimulation) and SPS (Single-pulse stimulation) techniques in the detection of misplaced thoracic screws was compared with special reference to the screws placed at the concavity and the convexity of the curve.

Patients And Methods: A single-center prospective clinical cohort study.

Dosimetric analysis of graphitic carbon nitride quantum dots exposed to a gamma radiation for a low-dose applications.

In this study, graphitic carbon nitride quantum dots (g-CNQDs) were synthesized using different solvents, characterized, and then exposed to a gamma-ray source (Cs) at irradiation doses of 0.1, 1.48, 2.

Myeloperoxidase as an important predictor of cardiovascular risk in individuals with rheumatoid arthritis.

Background: Rheumatoid arthritis is an inflammatory disease with joint manifestations. In the presence of extra-articular manifestations, the morbidity and severity of the disease increase. Glucocorticoid is used as a treatment and may result in side effects related to cardiovascular risk.

RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant.

Case-control studies have shown an association of BARD1 with hereditary breast and/or ovarian cancer (HBOC) predisposition. BARD1 alternatively spliced isoforms are abundant and some are highly expressed in different cancer types. In addition, a number of BARD1 germline pathogenic variants have been reported among HBOC patients.

Scientists' warning - The outstanding biodiversity of islands is in peril.

Despite islands contributing only 6.7% of land surface area, they harbor ~20% of the Earth's biodiversity, but unfortunately also ~50% of the threatened species and 75% of the known extinctions since the European expansion around the globe. Due to their geological and geographic history and characteristics, islands act simultaneously as cradles of evolutionary diversity and museums of formerly widespread lineages-elements that permit islands to achieve an outstanding endemicity.