Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiative.

As multigene panel testing is becoming routine in clinical care, there are recommendations at national and international level, as to which genes should be analyzed in the context of a hereditary breast and ovarian cancer (HBOC). However, the individual composition of gene panels offered by testing laboratories vary, resulting in a different variant diagnostic rate. Therefore, we performed a retrospective NGS dataset analysis of suspected HBOC patients who had been tested at different German diagnostic laboratories that are part of the NASGE network.

Best practices for including sex as a variable in appetite research.

Despite increasing recognition that sex is a critical variable in appetite research, many studies fail to include participants of both sexes, fail to consider reproductive physiology in participant selection, or include both sexes but fail to test for sex differences in outcomes. To help remedy this situation, this article seeks to engender enthusiasm for including sex as a variable in appetite research. We first illustrate some sex differences in healthy and disordered eating, including both male-female differences and differences across the menstrual cycle.

Forensic analysis of an alleged improvised explosive device (IED) from a multidisciplinary perspective: Organisation and outcomes of the ENFSI 2023 exercise.

Interdisciplinary examination of test materials requires careful consideration of how forensic routines can influence each other. This influence can be direct and obvious, or indirect and subtle. A multidisciplinary collaborative exercise (MdCE) should test a forensic laboratory's ability to account for these difficulties.

Nanoscale Probing of the Organic Binder in Artists' Paint Layers: Organic Phases and Chemical Heterogeneity.

Understanding paint structures at the nanoscopic level can address key questions related to artistic techniques, paint formulation, and long-term preservation of artworks. This involves examining spatial chemical complexity, the formation of molecular networks, and interactions between organic and inorganic constituents. Depending on the paint preparation methods, proteins and drying oils, the most common binders in traditional artistic practices, can be integrated to produce paints with diverse structures and nanoscale chemical intricacies.

Intellectual inflation: one way for scientific research to degenerate.

This paper aims to analyze a specific way in which a scientific programme or area can, in Lakatosian terms, degenerate: namely, through a developmental process of intellectual inflation. Adopting a pluralist approach to the notion of scientific progress, we propose that the historical development of a particular scientific area can be analyzed as being intellectually inflationary during a bounded period of time if it has considerably increased its productive output (thus demonstrating productive progressive) while the overall semantic or epistemic value of those products have not improved in a significant fashion (thus lacking progress in a semantic or epistemic sense). Then, we apply this concept to thoroughly assess whether there have been some intellectually inflationary patterns in the development of (i) information-theoretical evolutionary biology in 1961-2023, and (ii) ensemblist non-equilibrium statistical mechanics in 1938-2023.

Development and validation of the eHealth Literacy and Use Scale (eHLUS) to measure medical app literacy.

Objectives: This study aimed to develop and validate the eHealth Literacy and Use Scale (eHLUS), a German assessment tool designed to measure health literacy in the context of using medical apps. This scale enhances traditional eHealth literacy tools by focusing on the unique requirements of medical app use, such as integration into everyday life, and self-efficacy.

Study Design: This study employed a mixed-method design.

FL-W3S: Cross-domain federated learning for weakly supervised semantic segmentation of white blood cells.

Background: Segmentation models for clinical data experience severe performance degradation when trained on a single client from one domain and distributed to other clients from different domain. Federated Learning (FL) provides a solution by enabling multi-party collaborative learning without compromising the confidentiality of clients' private data.

Methods: In this paper, we propose a cross-domain FL method for Weakly Supervised Semantic Segmentation (FL-W3S) of white blood cells in microscopic images.

Gender biases and hate speech: Promoters and targets in the Argentinean political context.

Hate speech found in social media a place to flourish. In the Argentinean context, new right-wing parties have disrupted the political arena, winning the elections of 2023. Many of these new right-wing figures grew in popularity due to their use of social media, on a background of increasing political violence.

Functional traits mediate the effect of land use on drivers of community stability within and across trophic levels.

Understanding how land use affects temporal stability is crucial to preserve biodiversity and ecosystem functions. Yet, the mechanistic links between land-use intensity and stability-driving mechanisms remain unclear, with functional traits likely playing a key role. Using 13 years of data from 300 sites in Germany, we tested whether and how trait-based community features mediate the effect of land-use intensity on acknowledged stability drivers (compensatory dynamics, portfolio effect, and dominant species variability), within and across plant and arthropod communities.

Protective effects of neutrophil serine protease inhibition against ischemia-reperfusion injury in lung or heart transplantation.

Transplanted organs are inevitably exposed to ischemia-reperfusion (IR) injury, which is known to cause graft dysfunction. Functional and structural changes that follow IR tissue injury are mediated by neutrophils through the production of oxygen-derived free radicals, as well as from degranulation which entails the release of proteases and other pro-inflammatory mediators. Neutrophil serine proteases (NSPs) are believed to be the principal triggers of post-ischemic reperfusion damage.

Very High-Power Short-Duration Ablation for Atrial Fibrillation in Adults With Congenital Heart Disease.

Introduction: Data regarding safety and long-term outcome of very high-power-short duration (vHPSD) ablation in adult congenital heart disease (ACHD) patients with paroxysmal or persistent atrial fibrillation (AF) are lacking.

Methods: Retrospective observational single-center study. The data of 66 consecutive ACHD patients (mean age 60 ± 12.

Non-targeted metabolomics-based molecular networking enables the chemical characterization of Rumex sanguineus, a wild edible plant.

Introduction And Objective: Rumex sanguineus, a traditional medicinal plant of the Polygonaceae family, is gaining popularity as an edible resource. However, despite its historical and nutritional significance, its chemical composition remains poorly understood. To deepen the understanding of the of Rumex sanguineus composition, an in-depth analysis using non-targeted, mass spectrometry-based metabolomics was performed.

ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects.

Background: Ataxia telangiectasia mutated (ATM) kinase plays a critical role in DNA double-strand break (DSB) repair. Ataxia telangiectasia (A-T) patients exhibit abnormalities in immunoglobulin isotype expression and class switch recombination (CSR). This study investigates the role of residual ATM kinase expression and activity in the severity of A-T disease.

RNase T2 restricts TLR13-mediated autoinflammation in vivo.

RNA-sensing TLRs are strategically positioned in the endolysosome to detect incoming nonself RNA. RNase T2 plays a critical role in processing long, structured RNA into short oligoribonucleotides that engage TLR7 or TLR8. In addition to its positive regulatory role, RNase T2 also restricts RNA recognition through unknown mechanisms, as patients deficient in RNase T2 suffer from neuroinflammation.

Addition by Subtraction: Reversing Epikeratophakia and Stromal Scarring in a Patient With Myopia Magna.

Purpose: To describe a three-phase surgical approach for managing progressive visual decline in a patient with myopia magna and a history of epikeratophakia.

Methods: A 55-year-old woman with previous epikeratophakia surgery in both eyes experienced progressive visual deterioration. The three-phase approach included: (1) removal of the epikeratophakia lenticule, (2) cataract extraction with intraocular lens implantation, and (3) transepithelial topography-guided photorefractive keratectomy (trans-PRK).

Cerebral Embolic Protection in Patients Undergoing Left Atrial Appendage Closure.

(1) Background: Cerebral magnetic resonance imaging has reported new cerebral ischemic lesions after left atrial appendage (LAA) closure in about one- third of patients. Stroke occurs predominantly periprocedurally. This study evaluated the characteristics of embolized debris captured by the SENTINEL cerebral embolic protection system in patients undergoing LAA closure; (2) Methods: Sixty filters of 30 consecutive patients undergoing LAA closure with the WATCHMAN FLX device were collected and captured debris was analyzed by histopathology and histomorphometry.

Assessing the TNM Classification for Periprosthetic Joint Infections of the Knee: Predictive Validity for Functional and Subjective Outcomes.

Periprosthetic joint infection (PJI) following knee arthroplasty can significantly compromise patient mobility and quality of life. The newly proposed TNM classification system, adapted from oncology, categorizes PJI severity but has not yet been correlated with both subjective and objective outcomes post PJI treatment. This study evaluates the applicability of the TNM classification system for predicting outcomes in knee PJI revision surgeries.

Maximum-Power Stirling-like Heat Engine with a Harmonically Confined Brownian Particle.

Heat engines transform thermal energy into useful work, operating in a cyclic manner. For centuries, they have played a key role in industrial and technological development. Historically, only gases and liquids have been used as working substances, but the technical advances achieved in recent decades allow for expanding the experimental possibilities and designing engines operating with a single particle.

Joint Identification and Sensing for Discrete Memoryless Channels.

In the identification (ID) scheme proposed by Ahlswede and Dueck, the receiver's goal is simply to verify whether a specific message of interest was sent. Unlike Shannon's transmission codes, which aim for message decoding, ID codes for a discrete memoryless channel (DMC) are far more efficient; their size grows doubly exponentially with the blocklength when randomized encoding is used. This indicates that when the receiver's objective does not require decoding, the ID paradigm is significantly more efficient than traditional Shannon transmission in terms of both energy consumption and hardware complexity.

Self-Reported Oral Hygiene Performance of Patients in Albania: A Questionnaire-Based Survey.

Oral hygiene is a key factor for dental and periodontal diseases and the prognosis of any treatment to restore their consequences. The present survey aimed to evaluate how well informed patients in Albania are on oral hygiene, given the scarce evidence on this topic. This survey was performed using a Google Forms questionnaire on oral hygiene habits, type and technique of instruments used, and frequency of dental recall visits.

Assessment of Negative Symptoms in Schizophrenia: From the Consensus Conference-Derived Scales to Remote Digital Phenotyping.

The assessment of negative symptoms in schizophrenia has advanced since the 2006 NIMH-MATRICS Consensus Statement, leading to the development of second-generation rating scales like the Brief Negative Symptom Scale and the Clinical Assessment Interview for Negative Symptoms. These scales address the limitations of first-generation tools, such as the inclusion of aspects that are not negative symptoms and the lack of assessment of the subject's internal experience. However, psychometric validation of these scales is still in progress, and they are not yet recommended by regulatory agencies, thus limiting their use in clinical trials and settings.

Intracranial Aneurysms Treated with a Novel Coated Low-Profile Flow Diverter (p48 HPC)-A Single-Center Experience and an Illustrative Case Series.

The p48 MW HPC is a novel low-profile flow diverter covered by a hydrophilic polymer coating with antithrombogenic properties, which may reduce ischemic complications and enable a single antiplatelet therapy after insertion of the stent. In this single-center experience, we describe the efficacy of this device, focusing on the illustration of different therapeutic indications and the outcome in various clinical settings with regard to vessel anatomy, bleeding state, and aneurysm configuration. We retrospectively reviewed our database for all patients being treated with a p48 MW HPC flow diverter between February 2019 and July 2021.