Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency.

Inversions are balanced structural variants that often remain undetected in genetic diagnostics. We present a female proband with a de novo Chromosome 15 paracentric inversion, disrupting MEIS2 and NUSAP1. The inversion was detected by short-read genome sequencing and confirmed with adaptive long-read sequencing.

SiRCle (Signature Regulatory Clustering) model integration reveals mechanisms of phenotype regulation in renal cancer.

Background: Clear cell renal cell carcinoma (ccRCC) tumours develop and progress via complex remodelling of the kidney epigenome, transcriptome, proteome and metabolome. Given the subsequent tumour and inter-patient heterogeneity, drug-based treatments report limited success, calling for multi-omics studies to extract regulatory relationships, and ultimately, to develop targeted therapies. Yet, methods for multi-omics integration to reveal mechanisms of phenotype regulation are lacking.

Psychometric properties of the Iranian version of the polycystic ovary syndrome quality of life questionnaire for married and unmarried women with PCOS: PCOSQoL-47 and PCOSQoL-42.

Introduction: The incidence of PCOS is notably elevated in Iran, making it crucial to examine the quality of life among these individuals. This study aimed to thoroughly evaluate the psychometric properties of the Iranian adaptations of the PCOSQoL-47 and PCOSQoL-42 questionnaires. The application of these tools is significant as they could enhance further research in in communities with similar social norms concerning marriage and sexuality.

Entanglement and Mutual Information in Molecules: Comparing Localized and Delocalized Orbitals.

The use of the mutual information (MI) as a measure of the entanglement in quantum systems has gained a consensus in recent years, even if there is an ongoing effort to distinguish the classical and quantum contributions contained therein. This quantity has been first introduced in condensed matter physics, in particular, in studies based on the density matrix renormalization group method. This method has been successfully adapted to quantum chemistry problems, opening the way to compute MI also in molecular systems.

Citric acid based (CQDs/TiO) nanocomposites against SARS-COV-2: theoretical, photocatalytic and computational studies.

In the last decade, carbon quantum dots (CQDs), a novel class of carbon-based nanomaterials, have received increasing attention due to their distinct properties. Carbon Quantum Dots/Titanium Dioxide (CQDs/TiO) Nanocomposites were reported as potent compounds against SARS-COV-2. In this manuscript, citric acid is the carbon precursor used to synthesize carbon quantum dots (CQDs).

Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing.

We report a case of a fetus with short-rib thoracic dysplasia (SRTD) with polydactyly that also presented with atypical severe acro-mesomelic ossification defects. Genetic analysis using massively parallel sequencing of a skeletal dysplasia panel revealed compound heterozygous variants in DYNC2H1. This clinical report highlights the challenges associated with diagnosing the diverse phenotypes in the SRTD group and emphasizes the importance of genetic surveillance with a targeted gene panel for accurate diagnosis.

Competence and Training Needs in Infectious Disease Emergency Response Among Chinese Nurses: Cross-Sectional Study.

Background: In recent years, the frequent outbreaks of infectious diseases and insufficient emergency response capabilities, particularly issues exposed during the COVID-19 pandemic, have underscored the critical role of nurses in addressing public health crises. It is currently necessary to investigate the emergency preparedness of nursing personnel following the COVID-19 pandemic completely liberalized, aiming to identify weaknesses and optimize response strategies.

Objective: This study aimed to assess the emergency response competence of nurses, identify their specific training needs, and explore the various elements that impact their emergency response competence.

Structures of hexamethyl-[1,1'-biphenyl]-4,4'-diammonium salts.

The crystal structures of nine hexamethyl-[1,1'-biphenyl]-4,4'-diammonium (HMB) salts are described: the iodide (2), triiodide (3), succinate (4), fumarate (5), tetravanadate (6), hydroterephthalate (7) and perylenetetracarboxylate (8), as well as pentamethyl-[1,1'-biphenyl]-4,4'-diammonium iodide (1) and the metal-organic framework sodium diacetylenedisalicylate-HMB (9). HMB carbonate (10) has been synthesized as an important intermediate for a promising anti-metal-organic framework (`anti-MOF'). All the described compounds are characterized by high solubility in water.

A Modified Inflammatory Pain Model to Study the Analgesic Effect in Mice.

The hot plate test is widely used to evaluate analgesic effects on inflammatory pain in mice. A commonly used model of inflammatory pain was induced with an intraplantar injection of carrageenan in one hind paw. However, the findings from our laboratory showed that mice with a single-hind-paw injection of carrageenan lifted their paws to avoid thermal nociception during the hot plate test.

Nasal effects of environmental tobacco smoke exposure in children with allergic rhinitis.

Objectives: Tobacco smoke exposure is associated with inflammatory changes in the respiratory system including nasal mucosa. Our aim was to demonstrate nasal mucosal inflammation such as neutrophilic activation and epithelial permeability in patients with allergic rhinitis with exposure to environmental tobacco smoke (ETS) and reveal its effect on allergic rhinitis symptoms.

Methods: We enrolled 204 subjects with allergic rhinitis to this cross-sectional study.

Insect chitosan derived from Hermetia illucens larvae suppresses adipogenic signaling and promotes the restoration of gut microbiome balance.

Chitosan, the deacetylated form of chitin, is considered a valuable source of compounds in the feed and food industries. However, the impact of Hermetia illucens larvae chitosan (HCS) with specific physicochemical characteristics on obesity mediated by lipid accumulation and microbiome dysbiosis has not been fully elucidated. We purified HCS with a low molecular weight (84 kDa), low crystallinity, and a high deacetylation rate, characterizing it through several analytical techniques, including gel permeation chromatography, FT-IR, H NMR, FE-SEM, and XRD analysis.

The effect and mechanism of IL-37d on neutrophil recruitment in the early stage of tumor metastasis in the lungs.

Background: Chronic inflammation plays a pivotal role in cancer progression, with tumor-associated neutrophils (TANs) actively shaping the pre-metastatic niche. Interleukin-37 (IL-37), a known immunosuppressive cytokine, is implicated in this regulation, although its precise function remains underexplored.Therefore, this study seeks to further elucidate the inhibitory effect of IL-37d on neutrophil recruitment within the pre-metastatic lung microenvironment and its underlying mechanisms, thereby providing a theoretical foundation for clinical interventions in the early stages of cancer progression.

Electrochemical Liquid Phase TEM in Aqueous Electrolytes for Energy Applications: the Role of Liquid Flow Configuration.

Electrochemical liquid phase transmission electron microscopy (EC-LPTEM) is an invaluable tool for investigating the structural and morphological properties of functional materials in electrochemical systems for energy transition. Despite its potential, standardized experimental protocols and a consensus on data interpretation are lacking, due to a variety of commercial and customized electrical and microfluidic configurations. Given the small size of a typical electrochemical cell used in these experiments, frequent electrolyte renewal is crucial to minimize local chemical alterations from reactions and radiolysis.

Wood Plastic Composite Based on Recycled High-Density Polyethylene and Wood Waste (Sawdust).

The current work presents the reformulation of a composite based on high-density polyethylene obtained through the recycling of blow-molded containers (rHDPE) with natural fiber residues (wood sawdust). This material is technically and industrially known as WPC (wood plastic composite). The original formulation of this material contains 34% high-density polyethylene and 60% sawdust by weight fraction, while the remaining components include additives and coupling agents such as wax (Coupling Agent TPW 813 for plastic woods), stearic acid, and color pigment.

Data-Driven Approaches in Antimicrobial Resistance: Machine Learning Solutions.

The emergence of antimicrobial resistance (AMR) due to the misuse and overuse of antibiotics has become a critical threat to global public health. There is a dire need to forecast AMR to understand the underlying mechanisms of resistance for the development of effective interventions. This paper explores the capability of machine learning (ML) methods, particularly unsupervised learning methods, to enhance the understanding and prediction of AMR.