Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay.

Background: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance.

Case Presentation: Herein, we report a Chinese girl with intellectual disability, developmental delay, and congenital heart defect, in whom G-banded karyotype analysis identified a de novo paracentric inversion 46,XX, inv(15)(q15q26.

Metabolic profiling of Perilla leaves of different colors: insights into metabolite variation and bioactive compound distribution.

Background: Perilla frutescens (L.) Britt. (Lamiaceae) leaves are essential culinary and medicinal herbs, native to East Asian countries.

Long-term monitoring of total suspended matter concentration in fishponds in the Guangdong-Hong Kong-Macao Greater Bay Area.

Excessive total suspended matter (TSM) concentrations can exert a considerable impact on the growth of aquatic organisms in fishponds, representing a significant risk to aquaculture health. This study revised existing unified models using empirical data to develop an optimized TSM retrieval model tailored for the Guangdong-Hong Kong-Macao Greater Bay Area (GBA) (R = 0.69, RMSE = 7.

Human iPSC-derived microglial cells protect neurons from neurodegeneration in long-term cultured adhesion brain organoids.

Brain organoid models have greatly facilitated our understanding of human brain development and disease. However, key brain cell types, such as microglia, are lacking in most brain organoid models. Because microglia have been shown to play important roles in brain development and pathologies, attempts have been made to add microglia to brain organoids through co-culture.

Relationship between VEGF to PEDF ratio and in-hospital mortality in acute respiratory distress syndrome patients.

Acute respiratory distress syndrome (ARDS) has a high mortality rate worldwide; thus, identifying death risk factors related to ARDS is critical for risk stratification in patients with ARDS. In the present study, we conducted a single-center retrospective cohort analysis. Out of 278 patients with ARDS admitted from January 2016 to June 2022, 226 were included in this study.

The current status and future prospects of CRISPR-based detection of monkeypox virus: A review.

Background: The current pandemic of 2022 global mpox (formerly known as monkeypox), caused by infection with monkeypox virus (MPXV), has now reached over 120 countries. This constitutes a critical public health issue requiring effective disease management and surveillance. Rapid and reliable diagnosis is conducive to the control of infection, early intervention, and timely treatment.

Iron-Based Nanomaterials for Modulating Tumor Microenvironment.

Iron-based nanomaterials (IBNMs) have been widely applied in biomedicine applications including magnetic resonance imaging, targeted drug delivery, tumor therapy, and so forth, due to their unique magnetism, excellent biocompatibility, and diverse modalities. Further research on its enormous biomedical potential is still ongoing, and its new features are constantly being tapped and demonstrated. Among them, various types of IBNMs have demonstrated significant cancer therapy capabilities by regulating the tumor microenvironment (TME).

Cu2+ mediates the oxidation of the transcription factor MscA to regulate the antioxidant defense of mycobacteria.

Copper (Cu), a trace element with redox activity, is both essential and toxic to living organisms. Its redox properties make it a cofactor for a variety of proteins, but it also causes oxidative stress, hence the need to maintain intracellular copper homeostasis. However, the role of copper in the regulation of antioxidant defense in bacteria remains unclear, and the involved transcription factors remain to be explored.

Comparative toxicity study of hyaluronic acid fillers crosslinked with 1,4-butanediol diglycidyl ether or poly (ethylene glycol) diglycidyl ether.

Dermal fillers comprising injectable hyaluronic acid (HA) are widely used for soft tissue augmentation, often using crosslinking agents such as 1,4-butanediol diglycidyl ether (BDDE) or poly (ethylene glycol) diglycidyl ether (PEGDE). Here, we assessed the physical properties, toxicity, and inflammatory reactions of HA fillers crosslinked with either BDDE (HA-BDDE filler) or PEGDE (HA-PEGDE filler) in in vitro and in vivo investigations. The HA-PEGDE filler exhibited higher G', tan δ, G*, and complex viscosity values compared to the HA-BDDE filler, while maintaining similar cohesivity.

Odor-induced saltiness enhancement of volatile compounds screened from duck stewed with chili pepper.

Odor-induced saltiness enhancement (OISE) is thought to be a unique salt reduction technique which capitalizes on olfactory-gustatory interaction. Volatile compounds of stewed duck obtained from orthonasal (no-treatment) and retronasal (saliva-treatment) pathways and their capacity on OISE were analyzed by GC-O-MS and molecular simulation in order to ascertain the role of odors in duck stewed with chili pepper on saltiness enhancement. Totally 17 unique volatile compounds were identified in retronasal pathways.

Digital technology innovation, supply chain resilience and enterprise performance-The case of listed automotive parts manufacturing companies.

Digital technology innovation (DTI) is the core driving force for the development of the digital economy. This paper brings digital technology innovation and the supply chain of auto parts manufacturing under the same framework. This paper uses Stata 18 to empirically analyze the panel data of 130 A-share auto parts listed companies in Shanghai and Shenzhen from 2010 to 2022.

Synthesis and Application of a Novel Multifunctional Nanoprodrug for Synergistic Chemotherapy and Phototherapy with Hydrogen Sulfide Gas.

With the dilemma of limited efficacy of individual therapies, it is crucial to develop innovative combination therapy systems to target the complex pathogenesis of cancer. In this study, we designed a nanoprodrug ISL@MIL-101-ADT to facilitate synergistic delivery of hydrogen sulfide (HS) and prodrug ISL for specific eradication of tumor cells with minimal toxicity and maximal efficacy. The nanoprodrug passively targeted tumors through enhanced permeation and retention effects, followed by disintegration and release of IR780, lonidamine (LND), and HS.

Effective Gene Expression Prediction and Optimization from Protein Sequences.

High soluble protein expression in heterologous hosts is crucial for various research and applications. Despite considerable research on the impact of codon usage on expression levels, the relationship between protein sequence and expression is often overlooked. In this study, a novel connection between protein expression and sequence is uncovered, leading to the development of SRAB (Strength of Relative Amino Acid Bias) based on AEI (Amino Acid Expression Index).

Biomarkers.

Background: The relationship between CSF measures of Alzheimer disease (AD) pathologies and their neurodegenerative signatures is not fully understood. This study seeks to employ machine learning approaches on clinical MRI data to identify patterns associated with amyloid and tau, aiming to guide diagnosis and therapeutic interventions.

Method: We selected brain volumes that differed significantly between AD pathology and control groups.

Structural Design and Challenges of Micron-Scale Silicon-Based Lithium-ion Batteries.

Currently, lithium-ion batteries (LIBs) are at the forefront of energy storage technologies. Silicon-based anodes, with their high capacity and low cost, present a promising alternative to traditional graphite anodes in LIBs, offering the potential for substantial improvements in energy density. However, the significant volumetric changes that silicon-based anodes undergo during charge and discharge cycles can lead to structural degradation.

Drug Development.

Background: Genetic variants in GRN, the gene encoding progranulin, are causal for or are associated with the risk of multiple neurodegenerative diseases. Modulating progranulin has been considered as a therapeutic strategy for neurodegenerative diseases including Frontotemporal Dementia (FTD) and Alzheimer's Disease (AD). Here, we integrated genetics with proteomic data to determine the causal human evidence for the therapeutic benefit of modulating progranulin in AD.

The Effects of Moderate to High Static Magnetic Fields on Pancreatic Damage.

Background: Pancreatic damage is a common digestive system disease with no specific drugs. Static magnetic field (SMF), the key component of magnetic resonance imaging (MRI), has demonstrated prominent effects in various disease models.

Purpose: To study the effects of 0.

Isomer-Effects of Aminophenol Decorated Gold Nanoclusters for HO Photoproduction via Two-Step One-Electron Oxygen Reduction Reaction.

Gold (Au) nanoclustersare promising photocatalysts for biomedicine, sensing, and environmental remediation. However, the short carrier lifetime, inherent instability, and unclear charge transfer mechanism hinder their application. Herein, the Au nanoclusters decorated with three different isomers of o-Aminophenol, m-Aminophenol, and p-Aminophenol are synthesized, namely o-Au, m-Au, and p-Au, which achieve efficient hydrogen peroxide (HO) photoproduction through two-step one-electron oxygen reduction reaction (ORR).

Role of Mesoporosity in Hard Carbon Anodes for High-Energy and Stable Potassium-Ion Storage.

Herein, NaCl-templated mesoporous hard carbons (NMCs) have been designed and engineered with tunable surface properties as anode materials for potassium-ion batteries (KIBs) and hybrid capacitors (KICs). By utilizing "water-in-oil" emulsions, the size of NaCl templates is precisely modified, leading to smaller particles that enable the formation of primary carbon structures with reduced particle size and secondary structures with 3D interconnected mesoporosity. These features significantly enhance electrode density, reduce particle-to-particle resistance, and improve electrolyte wettability.

Intermittent Fasting Enhances Motor Coordination Through Myelin Preservation in Aged Mice.

Integrating dietary interventions have been extensively studied for their health benefits, such as Alzheimer's disease, Huntington's disease, and aging. However, it is necessary to fully understand the mechanisms of long-term effects and practical applications of these dietary interventions for health. A 10-week intermittent fasting (IMF) regimen was implemented on the aging animals in the current study.

Inflammatory markers link triglyceride-glucose index and obesity indicators with adverse cardiovascular events in patients with hypertension: insights from three cohorts.

Background: Among hypertensive cohorts across different nations, the relationship between the triglyceride-glucose index (TyG) and its conjunction with obesity metrics in relation to cardiovascular disease (CVD) incidence and mortality remains to be elucidated.

Methods: This study enrolled 9,283, 164,357, and 5,334 hypertensives from the National Health and Nutrition Examination Survey (NHANES), UK Biobank (UKBB), and Shanghai Pudong cohort. The related outcomes for CVD were defined by multivariate Cox proportional hazards models, Generalized Additive Models and Mendelian randomization analysis.

Impact of remnant cholesterol on short-term and long-term prognosis in patients with prediabetes or diabetes undergoing coronary artery bypass grafting: a large-scale cohort study.

Background: Remnant cholesterol (remnant-C) contributes to atherosclerotic cardiovascular disease (ASCVD), particularly in individuals with impaired glucose metabolism. Patients with impaired glucose metabolism and ASCVD remain at significant residual risk after coronary artery bypass grafting (CABG). However, the role of remnant-C in this population has not yet been investigated.

Development and validation of a five-year cardiovascular risk assessment tool for Asian adults aged 75 years and older.

Background: To identify cardiovascular (CV) risk factors in Asian elderly aged 75 years and older and subsequently develop and validate a sex-specific five-year CV risk assessment tool for this population.

Methods: This study included 12,174 patients aged ≥ 75 years without a prior history of cardiovascular disease at a single hospital in Taiwan. Electronic health records were linked to the National Health Insurance Research Database and the National Death Registry to ensure comprehensive health information.

Automatic parking trajectory planning in narrow spaces based on Hybrid A* and NMPC.

The rapid acceleration of urbanization and the surge in car ownership necessitate efficient automatic parking solutions in constricted spaces to address the escalating urban parking issue. To optimize space utilization, enhance traffic efficiency, and mitigate accident risks, a method is proposed for smooth, comfortable, and adaptable automatic parking trajectory planning. This study initially employs a hybrid A* algorithm to generate a preliminary path, then fits the velocity and acceleration based on a cubic polynomial.

Effects of oil pollution on the growth and rhizosphere microbial community of Calamagrostis epigejos.

Bacteria, fungi, archaea, and viruses are reflective organisms that indicate soil health. Investigating the impact of crude oil pollution on the community structure and interactions among bacteria, fungi, archaea, and viruses in Calamagrostis epigejos soil can provide theoretical support for remediating crude oil pollution in Calamagrostis epigejos ecosystems. In this study, Calamagrostis epigejos was selected as the research subject and subjected to different levels of crude oil addition (0 kg/hm, 10 kg/hm, 40 kg/hm).