Next-generation variant exon screening: Moving forward in routine genetic disease investigations.

Purpose: Patients with genetic diseases often seek testing to reach a firm diagnosis. Based on clinical phenotypes, exome sequencing for small-nucleotide variations or array-based methods for copy-number variations (CNVs) are commonly offered to identify the underlying causative genetic variants. In this study, we investigated whether data from a standard ES test could be used to additionally identify pathogenic CNVs and increase diagnostic yield.

Infection of nonclassic monocytes by respiratory syncytial virus induces an imbalance in the CD4 T-cell subset response.

Respiratory syncytial virus (RSV) causes lower respiratory tract infections in infants and young children, leading to a pathogenesis-associated imbalance in CD4 T-cell subsets and monocyte subsets. To investigate whether RSV affects the imbalance of CD4 T-cells through monocytes, we examined the effects of the RSV-infected monocyte subset on CD4 T-cell subsets, namely, Th1, Th2, Th17, and regulatory T (Treg) subsets, on proliferation and identified key monocyte-derived cytokines. We found that RSV efficiently infects CD16 monocytes, but not CD16 monocytes, cocultures of CD4 T-cells with RSV-infected CD16 monocytes, inhibits Treg cell proliferation and increases Th2 cell frequency, suggesting that RSV causes an imbalance in the CD4 T-cell subset by primarily infecting CD16 monocytes.

Facial expression analysis using convolutional neural network for drug-naive and chronic schizophrenia.

Objective: Facial images have been shown to convey mental conditions as clinical symptoms. This study aimed to use facial images to detect patients with drug-naive schizophrenia (DN-SCZ) or chronic schizophrenia (C-SCZ) from healthy controls (HCs), and to investigate differences in facial expressions among these 3 groups, as well as relationships between facial expressions and psychiatric symptoms.

Methods: We recruited 45 DN-SCZ patients, 106 C-SCZ patients and 101 HCs for the study, and videotaped their facial expressions through a fixed experimental paradigm.

Organic Electrolyte Additives for Aqueous Zinc Ion Batteries:Progress and Outlook.

Aqueous zinc ion batteries (AZIBs) are considered one of the most prospective new-generation electrochemical energy storage devices with the advantages of high specific capacity, good safety, and high economic efficiency. Nevertheless, the enduring problems of low Coulombic efficiency (CE) and inadequate cycling stability of zinc anodes, originating from dendrites, hydrogen precipitation and passivation, are closely tied to their thermodynamic instability in aqueous electrolytes, which significantly shortens the cycle life of the battery. Electrolyte additives can solve the above difficulties and are important for the advancement of affordable and reliable AZIBs.

The source of volatile organic compounds pollution and its effect on ozone in high-altitude areas.

Volatile organic compounds (VOCs) are crucial precursors in the formation of ozone (O). The sources of pollution are complex and significantly impact O generation. Long-term exposure to high-concentration O environments causes serious damage to organisms.

[Effect of Meteorological Elements and Air Pollutants on Ozone in Yinchuan City Park].

To examine the underlying determinants of ozone （O） in Yinchuan's urban park during varying seasons and to ascertain the role played by meteorological events and air contaminants in influencing O concentrations at high altitudes, data on O, meteorological factors, and air pollutants were collected through prolonged positional observations carried out at the Ningxia Yinchuan National Urban Ecosystem Research Station. Pearson correlation analysis and a structural equation model were utilized to investigate the spatio-temporal distribution patterns, trends, and the primary factors influencing O. The findings demonstrated a notable seasonal variability in O levels in Yinchuan's urban park, displaying an "unimodal type" with the O concentration peaking in summer （131.

Photoinduced, Redox-Neutral Decyanative and Defluorinative Phosphination of (Hetero)Arenes.

Triarylphosphines play a crucial role in organic synthesis as versatile components serving as ligands, catalysts, and reactants. This study introduces a metal-free, visible-light-induced method for the cross-coupling of cyanopyridines or polyfluoroarenes with diarylphosphines. This approach facilitates the formation of C(sp)-P bonds through redox-neutral decyanative or defluorinative process, enabling the convenient synthesis of diverse triarylphosphines.

A Predictive Model for Initial Platinum-Based Chemotherapy Efficacy in Patients with Postoperative Epithelial Ovarian Cancer Using Tissue-Derived Small Extracellular Vesicles.

Epithelial ovarian cancer (EOC) is an often-fatal malignancy marked by the development of resistance to platinum-based chemotherapy. Thus, accurate prediction of platinum drug efficacy is crucial for strategically selecting postoperative interventions to mitigate the risks associated with suboptimal therapeutic outcomes and adverse effects. Tissue-derived extracellular vesicles (tsEVs), in contrast to their plasma counterparts, have emerged as a powerful tool for examining distinctive attributes of EOC tissues.

Electrolytes for Aluminum-Ion Batteries: Progress and Outlook.

Aluminum-ion batteries (AIBs) are promising electrochemical energy storage sources because of their high theoretical specific capacity, light weight, zero pollution, safety, inexpensiveness, and abundant resources. These theoretical advantages have recently made AIBs a research hotspot. However, electrolyte-related issues significantly limit their commercialization.

Design of Mn-based nanozymes with multiple enzyme-like activities for identification/quantification of glyphosate and green transformation of organophosphorus.

A Mn-based nanozyme, Mn-uNF/Si, with excellent alkali phosphatase-like activity was designed by in-situ growth of ultrathin Mn-MOF on the surface of silicon spheres, and implemented as an effective solid Lewis-Brønsted acid catalyst for broad-spectrum dephosphorylation. HO-mediated GC-MS studies confirmed the cleavage sites and the involvement of HO in the new bonds. DRIFT NH-IR and in-situ ATR-FTIR confirmed the coexistence of Lewis-Brønsted acid sites and the adjustment of adsorption configurations at the interfacial sites.

RAD51B-AS1 promotes the malignant biological behavior of ovarian cancer through upregulation of RAD51B.

Long non-coding RNAs (lncRNAs) play an indispensable role in the occurrence and development of ovarian cancer (OC). However, the potential involvement of lncRNAs in the progression of OC is largely unknown. To investigate the detailed roles and mechanisms ofRAD51 homolog B-antisense 1 (), a novel lncRNA in OC, reverse transcription-quantitative polymerase chain reaction (RT-qPCR) was performed to verify the expression of .

Self-Assembled Nanocomposite DOX/TPOR@CB[7] for Enhanced Synergistic Photodynamic Therapy and Chemotherapy in Neuroblastoma.

DOX/TPOR@CB[7] was synthesized via self-assembly, and its physicochemical properties and ability to generate reactive oxygen species (ROS) were evaluated. The impact of photodynamic therapy on SH-SY5Y cells was assessed using the MTT assay, while flow cytometry analysis was employed to detect cell apoptosis. Confocal laser scanning microscopy was utilized to observe the intracellular distribution of DOX/TPOR@CB[7] in SH-SY5Y cells.

A Review of High-Temperature Aerogels: Composition, Mechanisms, and Properties.

High-temperature aerogels have garnered significant attention as promising insulation materials in various industries such as aerospace, automotive manufacturing, and beyond, owing to their remarkable thermal insulation properties coupled with low density. With advancements in manufacturing techniques, the thermal resilience of aerogels has considerable improvements. Notably, polyimide-based aerogels can endure temperatures up to 1000 °C, zirconia-based aerogels up to 1300 °C, silica-based aerogels up to 1500 °C, alumina-based aerogels up to 1800 °C, and carbon-based aerogels can withstand up to 2500 °C.

Deep Reinforcement Learning for Solving Vehicle Routing Problems With Backhauls.

The vehicle routing problem with backhauls (VRPBs) is a challenging problem commonly studied in computer science and operations research. Featured by linehaul (or delivery) and backhaul (or pickup) customers, the VRPB has broad applications in real-world logistics. In this article, we propose a neural heuristic based on deep reinforcement learning (DRL) to solve the traditional and improved VRPB variants, with an encoder-decoder structured policy network trained to sequentially construct the routes for vehicles.

Water/Light Multiregulated Supramolecular Polypseudorotaxane Gel with Switchable Room-Temperature Phosphorescence.

Water/light regulated room-temperature phosphorescence (RTP) of polypseudorotaxane supramolecular gel is constructed by threading the poly(ethylene glycol)--poly(propylene glycol)--poly(ethylene glycol) (PEG-PPG-PEG) chain with the bromoaromatic aldehyde into mono-(6-ethylenediamine-6-deoxygenated)-β-cyclodextrin (ECD) cavities and further assembling with negatively charged Laponite XLG (CNS) and diarylethene derivative (DAE) through electrostatic interaction. This hydrogel exhibits significant blue fluorescence emission; instead, after lyophilization to xerogel, the system exhibits both blue fluorescence and yellow RTP based on the rigid network structure of the xerogel, which restricts the vibration of the phosphor and suppresses the nonradiative relaxation process. Interestingly, the addition of excess ECDs to the gel system can enhance the RTP emission.

Rapid Detection of SARS-CoV-2 in Clinical and Environmental Samples via a Resonant Cavity SERS Platform within 20 min.

The coronavirus disease 2019 (COVID-19) epidemic has given a warning that it is important to explore the rapid detection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in clinical specimens or environmental samples for public health strategies and future variants. The surface-enhanced Raman spectroscopy (SERS) technique was demonstrated to achieve this goal. However, the consistency of signals originating from the poor compatibility of virions with SERS hotspots remains a key scientific challenge for the practical applications of SERS.

Photocontrolled Reversibly Chiral-Ordered Assembly Based on Cucurbituril.

Chirality transfer and regulation, accompanied by morphology transformation, arouse widespread interest for application in materials and biological science. Here, a photocontrolled supramolecular chiral switch is fabricated from chiral diphenylalanine (l-Phe-l-Phe, FF) modified with naphthalene (), achiral dithienylethene (DTE) photoswitch (), and cucurbit[8]uril (CB[8]). Chirality transfer from the chiral FF moiety of to a charge-transfer (CT) heterodimer consisting of achiral guest and achiral naphthalene (NP) in has been unprecedented achieved via the encapsulation of CB[8].

[Analysis of a Chinese pedigree affected with Meckel syndrome due to variants of TMEM67 gene].

Objective: To explore the genetic etiology for a Chinese pedigree affected with Meckel syndrome.

Methods: A pedigree with a history of three consecutive adverse pregnancies which presented at the First Affiliated Hospital of Zhengzhou University on August 31, 2017 was selected as the study subject. Clinical data of the pedigree were collected.

Design of bifunctional ultrathin MnO nanofilm with laccase-like activity for sensing environmental pollutants containing phenol groups.

Laccase-catalyzed oxidative reactions are increasingly examined as a reliable approach to environmental analysis and remediation, and it is urgent to widen metal category to compensate huge gap in the number of studies on copper- and non-copper laccase mimics. Herein, two-dimensional ultrathin MnO nanofilm (Mn-uNF) was designed via a chemical deposition and alkali etching process. Similar to Cu-laccase, Mn-uNF can oxidize phenols via a one-electron-transfer reaction of Mn(III) and accelerate the Mn/Mn state cycle through an unconventional oxygen reduction process.

Voluntary wheel exercise ameliorates cognitive impairment, hippocampal neurodegeneration and microglial abnormalities preceded by demyelination in a male mouse model of noise-induced hearing loss.

Acquired peripheral hearing loss (APHL) in midlife has been identified as the greatest modifiable risk factor for dementia; however, the pathophysiological neural mechanisms linking APHL with an increased risk of dementia remain to be elucidated. Here, in an adult male mouse model of noise-induced hearing loss (NIHL), one of the most common forms of APHL, we demonstrated accelerated age-related cognitive decline and hippocampal neurodegeneration during a 6-month follow-up period, accompanied by progressive hippocampal microglial aberrations preceded by immediate-onset transient elevation in serum glucocorticoids and delayed-onset sustained myelin disruption in the hippocampus. Pretreatment with the glucocorticoid receptor antagonist RU486 before stressful noise exposure partially mitigated the early activation of hippocampal microglia, which were present at 7 days post noise exposure (7DPN), but had no impact on later microglial aberrations, hippocampal neurodegeneration, or cognitive decline exhibited at 1 month post noise exposure (1MPN).