Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci.

Considering polygenic risk scores (PRSs) in individual risk prediction is increasingly implemented in genetic testing for hereditary breast cancer (BC) based on next-generation sequencing (NGS). To calculate individual BC risks, the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) with the inclusion of the BCAC 313 or the BRIDGES 306 BC PRS is commonly used. The PRS calculation depends on accurately reproducing the variant allele frequencies (AFs) and, consequently, the distribution of PRS values anticipated by the algorithm.

Effects of Contagious Respiratory Pathogens on Breath Biomarkers.

Due to their immediate exhalation after generation at the cellular/microbiome levels, exhaled volatile organic compounds (VOCs) may provide real-time information on pathophysiological mechanisms and the host response to infection. In recent years, the metabolic profiling of the most frequent respiratory infections has gained interest as it holds potential for the early, non-invasive detection of pathogens and the monitoring of disease progression and the response to therapy. Using previously unpublished data, randomly selected individuals from a COVID-19 test center were included in the study.

Targeting glioblastoma tumor hyaluronan to enhance therapeutic interventions that regulate metabolic cell properties.

Unlabelled: Despite extensive advances in cancer research, glioblastoma (GBM) still remains a very locally invasive and thus challenging tumor to treat, with a poor median survival. Tumor cells remodel their microenvironment and utilize extracellular matrix to promote invasion and therapeutic resistance. We aim here to determine how GBM cells exploit hyaluronan (HA) to maintain proliferation using ligand-receptor dependent and ligand-receptor independent signaling.

Protocol for visualizing complex volatile metabolomics data in clinical setups using EDaViS software.

Here, we present a protocol for using Early Data Visualization Script, a user-friendly software tool to visualize complex volatile metabolomics data in clinical setups. We describe steps for tabulating data and adjusting visual output to visualize complex time-resolved volatile omics data using simple charts and graphs. We then demonstrate possible modifications by detailing procedures for the adaptation of four basic functions.

Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction.

Background: Breast cancer (BC) risk prediction models consider cancer family history (FH) and germline pathogenic variants (PVs) in risk genes. It remains elusive to what extent complementation with polygenic risk score (PRS) and non-genetic risk factor (NGRFs) data affects individual intensified breast surveillance (IBS) recommendations according to European guidelines.

Methods: For 425 cancer-free women with cancer FH (mean age 40·6 years, range 21-74), recruited in France, Germany and the Netherlands, germline PV status, NGRFs, and a 306 variant-based PRS (PRS) were assessed to calculate estimated lifetime risks (eLTR) and estimated 10-year risks (e10YR) using CanRisk.

Profiling of exhaled volatile organics in the screening scenario of a COVID-19 test center.

Breath volatile organics (VOCs) may provide immediate information on infection mechanisms and host response. We conducted real-time mass spectrometry-based breath profiling in 708 non-preselected consecutive subjects in the screening scenario of a COVID-19 test center. Recruited subjects were grouped based on PCR-confirmed infection status and presence or absence of flu-like symptoms.

Effects of COVID-19 protective face masks and wearing durations on respiratory haemodynamic physiology and exhaled breath constituents.

Background: While assumed to protect against coronavirus transmission, face masks may have effects on respiratory-haemodynamic parameters. Within this pilot study, we investigated immediate and progressive effects of FFP2 and surgical masks on exhaled breath constituents and physiological attributes in 30 adults at rest.

Methods: We continuously monitored exhaled breath profiles within mask space in older (age 60-80 years) and young to middle-aged (age 20-59 years) adults over the period of 15 and 30 min by high-resolution real-time mass-spectrometry.

[HerediCaRe: Documentation and IT Solution of a Specialized Registry for Hereditary Breast and Ovarian Cancer].

The national registry "HerediCaRe" for the evaluation and improvement of risk-adjusted prevention in hereditary breast and ovarian cancer is one of six "model registries in health services research" funded by the BMBF. In this paper, we describe and discuss the documentation and IT solution chosen for standardized data collection based on the specific functional requirements previously defined. The documentation is divided into different modules to be used individually for each patient, which are based on a previously defined catalog of documentation items.

Metallaphotoredox Difluoromethylation of Aryl Bromides.

Herein, we report a convenient and broadly applicable strategy for the difluoromethylation of aryl bromides by metallaphotoredox catalysis. Bromodifluoromethane, a simple and commercially available alkyl halide, is harnessed as an effective source of difluoromethyl radical by silyl-radical-mediated halogen abstraction. The merger of this fluoroalkyl electrophile activation pathway with a dual nickel/photoredox catalytic platform enables the difluoromethylation of a diverse array of aryl and heteroaryl bromides under mild conditions.

Community change and resident needs: Designing a Participatory Action Research study in Metropolitan Boston.

The health implications of urban development, particularly in rapidly changing, low-income urban neighborhoods, are poorly understood. We describe the Healthy Neighborhoods Study (HNS), a Participatory Action Research study examining the relationship between neighborhood change and population health in nine Massachusetts neighborhoods. Baseline data from the HNS survey show that social factors, specifically income insecurity, food insecurity, social support, experiencing discrimination, expecting to move, connectedness to the neighborhood, and local housing construction that participants believed would improve their lives, identified by a network of 45 Resident Researchers exhibited robust associations with self-rated and mental health.

Arene-Alkene Cycloaddition.

Cycloadditions are among the most efficient chemical processes, combining atom economy, stereospecificity, and the ability to generate molecular complexity in a single step. Aromatic rings would in principle be ideal reaction partners, as they contain, at least from the topological point of view, both olefinic and diene subunits; however, the stability of the conjugated aromatic system would be broken by cycloaddition reactions, which are therefore rarely applied, because kinetics and thermodynamics hinder the process. From that aspect, photochemical activation opens interesting perspectives, as one can selectively provide excess energy to one of the reactants but not to the product, thus preventing thermal back reaction.

Three-Phase Morphology of Semicrystalline Polymer Semiconductors: A Quantitative Analysis.

Quantitative morphological analysis is essential to the fundamental understanding of semiconducting polymers. Temperature modulated differential scanning calorimetry is used to determine the amount of crystalline and noncrystalline phases within regioregular poly(3-hexylthiophene) (rrP3HT). Careful optimization of the experimental conditions shows that the glass transition of rrP3HT consists of three parts corresponding to the devitrification of the side chains, mobile amorphous fraction (MAF), and rigid amorphous fraction (RAF), consecutively.

Meter-long multiblock copolymer microfibers via interfacial bioorthogonal polymerization.

High-molecular-weight multiblock copolymers are synthesized as robust polymer fibers via interfacial bioorthogonal polymerization employing the rapid cycloaddition of s-tetrazines with strained trans-cyclooctenes. When cell-adhesive peptide is incorporated in the tetrazine monomer, the resulting protein-mimetic polymer fibers provide guidance cues for cell attachment and elongation.

Speed choice and mental workload of elderly cyclists on e-bikes in simple and complex traffic situations: a field experiment.

To study the speed choice and mental workload of elderly cyclists on electrical assisted bicycles (e-bikes) in simple and complex traffic situations compared to these on conventional bicycles, a field experiment was conducted using two instrumented bicycles. These bicycles were identical except for the electric pedal support system. Two groups were compared: elderly cyclists (65 years of age and older) and a reference group of cyclists in middle adulthood (between 30 and 45 years of age).

[Breast implants from 1957 changed on 2005: a 48-year exceptional and historical follow-up].

A 78-year-old woman underwent a breast implants removal on August 2005. The prosthetic breast augmentation was performed during 1957, in France. The photos of these polyethylene made breast implants are shown.

[Free temporoparietal osteomuscular flap for cranioplasty].

Purpose: Advances in composite materials for craniofacial reconstruction surgery has tended to limit indications for osteomuscular free flaps which nevertheless must be used for certain septic patients. The purpose of this report was to illustrate the usefulness of the free temoroparietal osteomuscular flap in this particular situation.

Case Report: A 47-year-old man underwent surgical repair of an aneurysm of the anterior communicating artery complicated by acute hydrocephaly treated by external then ventriculoperitoneal bypass.

[Keratoacanthoma: two cases with intravascular spread].

We report two patients with keratoacanthoma, simple in one and multiple in the other, displaying typical histological features except for intravascular spread. Although this spread points to malignancy, it did not allow to rule out the diagnosis of keratoacanthoma. These aggressive histological features, as well as perineural invasion, are not linked to malignant clinical course, according to the literature.

Observed maternal strategies and children's health locus of control in low-income Mexican American families.

This study examined the relationship among mothers' health locus of control (HLOC) beliefs, their socialization strategies, and their children's HLOC beliefs in 80 low-income Mexican American families. Maternal socialization strategies were assessed from videotaped interactions of mothers and children engaged in a structured task. Factor analysis of the coded strategies yielded 4 factors: Tell Answer, Teaching, Clarify, and Reinforce.

Two-dimensional electrophoresis of soluble leaf proteins, isolated from two wheat species (Triticum durum and Triticum aestivum) differing in sensitivity towards NaCl.

Plants of two wheat species (Triticum aestivum cv. Tanit and T. durum cv.

Active site residue 297 of Aspergillus niger phytase critically affects the catalytic properties.

The wild-type phytases from the Aspergillus niger strains NRRL 3135 and T213 display a three-fold difference in specific activity (103 versus 32 U/mg protein), despite only 12 amino acid differences that are distributed all over the sequence of the protein. Of the 12 divergent positions, three are located in or close to the substrate binding site. Site-directed mutagenesis of these residues in A.

Biochemical characterization of fungal phytases (myo-inositol hexakisphosphate phosphohydrolases): catalytic properties.

Supplementation with phytase is an effective way to increase the availability of phosphorus in seed-based animal feed. The biochemical characteristics of an ideal phytase for this application are still largely unknown. To extend the biochemical characterization of wild-type phytases, the catalytic properties of a series of fungal phytases, as well as Escherichia coli phytase, were determined.

Biophysical characterization of fungal phytases (myo-inositol hexakisphosphate phosphohydrolases): molecular size, glycosylation pattern, and engineering of proteolytic resistance.

Phytases (myo-inositol hexakisphosphate phosphohydrolases) are found naturally in plants and microorganisms, particularly fungi. Interest in these enzymes has been stimulated by the fact that phytase supplements increase the availability of phosphorus in pig and poultry feed and thereby reduce environmental pollution due to excess phosphate excretion in areas where there is intensive livestock production. The wild-type phytases from six different fungi, Aspergillus niger, Aspergillus terreus, Aspergillus fumigatus, Emericella nidulans, Myceliophthora thermophila, and Talaromyces thermophilus, were overexpressed in either filamentous fungi or yeasts and purified, and their biophysical properties were compared with those of a phytase from Escherichia coli.