Identification of a novel variant (c.778A>G) associated with CHOPS syndrome.

CHOPS (cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia) syndrome is an extremely rare disorder with multiple congenital anomalies caused by missense variants in the ALF transcription elongation factor 4 gene (). This study aimed to identify causative variants in a Chinese family with CHOPS syndrome. A Chinese girl with short stature, obesity, and developmental delay underwent comprehensive clinical and genetic evaluations, including karyotyping analysis, multiple ligation-dependent probe amplification, detection of aberrant methylation, whole exome sequencing, Sanger sequencing, and copy number variation analysis, followed by analyses.

Population pharmacokinetics and Monte Carlo-based dosing optimization of trimethoprim-sulfamethoxazole.

This study aimed to develop population pharmacokinetic (PopPK) models for intravenous sulfamethoxazole (SMX) and trimethoprim (TMP) to optimize dosing regimens for the treatment of pneumonia using these models. A prospective study was conducted in 79 patients treated with intravenous trimethoprim-sulfamethoxazole. PopPK models were developed using nonlinear mixed-effect modeling to evaluate the effects of liver function, kidney function, and genetic polymorphisms ( and ) on pharmacokinetic parameters.

Targeting HDAC8 sensitizes tyrosine kinase inhibitors in the elimination of B-cell acute lymphoblastic leukemia cells through degradation of HIF-1α.

Tyrosine kinase inhibitors (TKIs) only partially inhibit the growth of Philadelphia chromosome-positive B-cell acute lymphoblastic leukemia (Ph B-ALL) cells, and often lead to rapid relapse. Therefore, it is essential to elucidate the mechanisms of resistance and develop novel treatment strategies. Histone deacetylases (HDACs) are often dysregulated in hematological malignancies, and many HDAC inhibitors have shown potent antitumor activities.

Integrative Analysis of Curcuma kwangsiensis Reveals Markers for Distinguishing Rhizome, Radix, and Non-Medicinal Parts via LDA-Based Classification.

Introduction: Curcumae Rhizoma (Ezhu) and Curcumae Radix (Yujin) are both derived from Curcuma kwangsiensis (CK), an important species in the Zingiberaceae family. They have different clinical applications in traditional Chinese medicine (TCM): The rhizome is mainly used for antitumor treatments, whereas the radix is known for antidepressant and cholagogic effects, both officially listed in the Chinese Pharmacopoeia. However, non-medicinal parts such as the aerial portions and fibrous roots are sometimes mixed in, leading to confusion in clinical formulation use.

Dissecting cross-lineage tumourigenesis under p53 inactivation through single-cell multi-omics and spatial transcriptomics.

Background: Tumour suppressor genes, exemplified by TP53 (encoding the human p53), function as critical guardians against tumourigenesis. Germline TP53-inactivating mutations underlie Li-Fraumeni syndrome, a hereditary cancer predisposition disorder characterised by early-onset pan-tissue malignancies. However, the context-dependent tumour-suppressive mechanisms of p53 remain incompletely elucidated.

Fault Diagnosis Method of Planetary Gearboxes Based on Multi-Scale Wavelet Packet Energy Entropy and Extreme Learning Machine.

As critical components of planetary gearboxes, gears directly affect mechanical system reliability when faults occur. Traditional feature extraction methods exhibit limitations in accurately identifying fault characteristics and achieving satisfactory diagnostic accuracy. This research is concerned with the gear of the planetary gearbox and proposes a new approach termed multi-scale wavelet packet energy entropy (MSWPEE) for extracting gear fault features.

Replication of the GWAS-Identified GALNT13 rs10196189 Polymorphism in Relation to Speed-Power Elite Active Athlete Status and Multidimensional Phenotypic Differences in Chinese Han Males: A Pilot Study.

: Previous multi-ethnic genome-wide association studies (GWAS) have identified the GALNT13 rs10196189 polymorphism as a potential genetic marker linked to sprint-power performance. However, its relevance in East Asian populations, particularly the Han Chinese, remains untested. This study aimed to replicate the association of rs10196189 with elite sprint-power athlete status in Han Chinese males and examine its potential influence on physical performance traits and tissue-specific gene regulation.

Laser irradiation-triggered self-organization of defect-rich MoS nanospheres for ultrasensitive SERS detection of antibiotic levofloxacin molecules.

Ultrasensitive and accurate quantitative determination of trace antibiotics remains a formidable challenge, given its crucial significance for early screening of public health and safety. Notably, surface-enhanced Raman spectroscopy (SERS) has been developed into a rapid, non-invasive and sensitive technique for detecting trace amounts of antibiotics in the environment. Herein, defect-rich ultraclean MoS nanospheres are successfully designed for the first time through self-organization from common two-dimensional molybdenum disulfide (2D MoS) multilayers by one-step green laser-manufactured method.

Accelerated biological aging as a potential mediator mediates the relationship between metabolic syndrome and the risk of psoriasis: a prospective analysis from the UK biobank.

Background: Increasing evidence suggests that metabolic syndrome (MetS) may contribute to the development of psoriasis. However, the mediating role of accelerated aging in this association remains unclear.

Methods: This study utilized data from 319,263 participants in the UK Biobank.

Long-Term Effect of Cognitive Behavioral Therapy in Managing Subclinical Depression: A Systematic Review and Meta-Analysis.

Recent research has emphasized the continuum of depression, highlighting the significance of early intervention for subclinical depression. However, previous studies often focused on specific populations or lacked comparisons across participants and intervention characteristics in the effectiveness of cognitive behavioral therapy (CBT). This systematic review and meta-analysis (CRD42024498284) aimed to address these gaps by examining the effectiveness of CBT in managing subclinical depression and its potential for preventing the transition to major depression.

Regulating Dynamic Evolution of Interfacial Electrolyte Configuration via Inert Cation Induced Anion Anchoring to Stabilize Lithium-Metal Anode.

Interfacial stability in high-energy-density lithium metal batteries (LMBs) hinges on precise regulation of dynamic interfacial electrolyte configuration. Although inert cations are frequently employed to stabilize Li-metal anode, their interfacial adsorption behavior and the resultant evolution of the electrolyte/electrode interface remain elusive. Herein, using in-situ spectroscopy, we visualized the adsorption of inert cations, exemplified by tetrabutylammonium (TBA).

GraphVelo allows for accurate inference of multimodal velocities and molecular mechanisms for single cells.

RNA velocities and generalizations emerge as powerful approaches for extracting time-resolved information from high-throughput snapshot single-cell data. Yet, several inherent limitations restrict applying the approaches to genes not suitable for RNA velocity inference due to complex transcriptional dynamics, low expression, or lacking splicing dynamics, or data of non-transcriptomic modality. Here, we present GraphVelo, a graph-based machine learning procedure that uses as input the RNA velocities inferred from existing methods and infers velocity vectors lying in the tangent space of the low-dimensional manifold formed by the single cell data.

RuAn Tablets Relieve Mammary Gland Hyperplasia by Regulating PGE2 Synthesis.

Introduction: RuAn Tablets (RATs) are a traditional Chinese formulation used for the treatment of mammary gland hyperplasia (MGH), one of the most prevalent gynecological diseases. However, the complexity of RATs composition has hindered the elucidation of the mechanism.

Methods: In this study, we employed an integrated approach combining ultra-high performance liquid chromatography-mass spectrometry (UHPLC-MS), network pharmacology, and experimental validation to identify the active components of RATs and explore their potential mechanisms in alleviating MGH.

Corticosterone Contributes to Context-Triggered Retrieval of Morphine Withdrawal Memories by Acting on Basolateral Amygdala Neurons Projecting to Nucleus Accumbens Core.

Context-triggered retrieval of drug withdrawal memories (CTR-DWM) is a major cause of drug relapse. Most studies of the context-triggered retrieval of morphine withdrawal memories (CTR-MWM) have mainly focused on the functional interactions within the central structures of the brain. It remains unknown how an increase in corticosterone, which is an important response under drug withdrawal state, participates in CTR-MWM.

ROLE OF CHANGES IN LIPOPROTEINS, LIPIDOMES, AND GUT MICROBIOTA IN THE PATHOGENESIS OF PERSISTENT INFLAMMATION, IMMUNOSUPPRESSION, AND CATABOLISM SYNDROME: A PROSPECTIVE COHORT STUDY.

Persistent inflammation, immunosuppression, and catabolism syndrome (PIICS) is a severe condition that occurs in patients in intensive care units (ICUs), and it is associated with high morbidity and mortality. This prospective cohort study investigated the dynamic changes in lipoproteins, lipidomics, and gut microbiota from days 1 to 7 posthospitalization for PIICS to elucidate their roles in the pathophysiology of PIICS. Patients admitted to the ICU were enrolled, and blood and fecal samples were collected 1 day and 7 days after admission.

Robotic liver resection for hepatic focal nodular hyperplasia in children: comparison with open surgery.

Background: Robot-assisted surgery is becoming increasingly used in pediatric oncology. The present study aimed to evaluate the feasibility and safety of robotic liver resection (RLR) for hepatic focal nodular hyperplasia (FNH) in children and compare surgical outcomes between RLR and open liver resection (OLR).

Methods: Pediatric patients with liver FNH undergoing lesion resection between January 2020 and June 2024 were included in the study.

Utilization of steelwork off-gases through methanol synthesis: Sulfur-induced dynamic migration of ZnO over industrial Cu/ZnO/AlO catalyst and the poisoning mechanism.

The reduction of carbon emissions in the steel industry is a significant challenge, and utilizing CO from carbon intensive steel industry off-gases for methanol production is a promising strategy for decarbonization. However, steelwork off-gases typically contain various impurities, including HS, which can deactivate commercial methanol synthesis catalysts, Cu/ZnO/AlO (CZA). Reverse water-gas shift (RWGS) reaction is the predominant side reaction in CO hydrogenation to methanol which can occur at ambient pressure, enabling the decouple of RWGS from methanol production at high pressure.

Real time wire rope detection method based on Rockchip RK3588.

In the era of fully mechanized and automated coal mine production, the need for autonomous fault detection and intelligent identification of wire ropes has become increasingly critical. Conventional model training and algorithmic computations rely on server-based systems, requiring significant computational resources. This study proposes a real-time wire rope detection system utilizing the Rockchip RK3588 platform.

Aloe-emodin ameliorates chronic kidney disease fibrosis by inhibiting PI3K-mediated signaling pathway.

Chronic kidney disease (CKD) impacts a vast number of individuals worldwide, culminating in renal fibrosis. Renal fibrosis serves as the main reason for end-stage renal failure. However, the current targeted treatment methods for renal fibrosis remain scarce.

Peptidylarginine Deiminase (PAD) Inhibitor Optimization through Displacement of a Trapped Water Molecule.

Excess protein citrullination, a post-translational modification converting arginine to citrulline, has been associated with a range of autoimmune and neurological disorders, as well as cancers. Protein citrullination is mediated by the peptidylarginine deiminase enzyme family (PAD1-4), and inhibition of one or several PAD isozymes in combination may offer a therapeutic approach to targeting these diseases. Building upon the discovery of PAD-PF2, an allosteric inhibitor of PAD1-4, herein, we report on the optimization of potency and pharmacokinetic properties while minimizing hERG channel liabilities within this novel chemical series.

Risk and protective factors for bereavement adaptation: a protocol for a systematic review and meta-analysis.

Introduction: Many people experience lifelong impacts after losing a loved one. Bereavement adaptation, which refers to how people adapt to changes after a death, is crucial for their subsequent life stages. Bereavement experienced during one's childhood or teenage years can be even more challenging, considering the dual burden of bereavement adaptation and developmental tasks.

Radionuclide-labeled nanomaterials for tumor therapy: Recent progress and perspectives.

Radionuclide therapy (RNT) uses the ionizing radiation generated by the emitted particles during radioactive decay to directly damage DNA structure or indirectly increase the concentration of free radicals in cells, thereby destroying or killing diseased cells. Radionuclides offer the advantages of high sensitivity, non-invasive, and functional imaging in clinical diagnosis. The key to RNT is to deliver sufficient radiation dose to tumors while reducing toxic side effects on normal tissues and organs.

Synergistically competitive coordination for tailoring sodium cointercalation potential of graphite.

Sodium co-intercalation in graphite negative electrodes delivers high-rate kinetics, and yet its implementation is plagued by notorious reaction potential. While prior efforts reduce the co-intercalation potential, the design remains limited by the intrinsic properties of electrolyte. Herein, a flexible design strategy based on synergistically competitive coordination is developed to tailor co-intercalation potential in dilute ether systems.

MKMGCN-DDI: Predicting Drug-Drug Interactions via Magnetic Graph Convolutional Network With Multiple Kernels.

Polypharmacy is a common means of clinical treatments, but detecting drug-drug interactions (DDIs) behind unexpected effects can be costly and faces clinical limitations. Recently, graph neural networks (GNNs) have demonstrated encouraging performance in predicting DDIs. However, most studies overlook the comprehensive aspects of DDIs, such as the coexistence of types of pharmacological changes and the asymmetric roles of drugs.

Aroma Formation, Release, and Perception in Aquatic Products Processing: A Review.

Flavor, as one of the primary factors that attracts consumers, has always been a crucial indicator for evaluating the quality of food. From processing to final consumption, the conditions that affect consumers' perception of the aroma of aquatic products can be divided into three stages: aroma formation, release, and signal transmission. Currently, there are few reviews on the formation, release, and perception of aroma in aquatic products, which has affected the product development of aquatic products.