High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.

Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.

Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.

Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).

Association of whole grain food consumption with lung cancer risk: a prospective cohort study.

Background: Whether the intake of whole grain foods can protect against lung cancer is a long-standing question of considerable public health import, but the epidemiologic evidence has been limited. Therefore we aim to investigate the relationship between whole grain food consumption and lung cancer in the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO) cohort.

Methods: Diet was assessed with a self-administered Diet History Questionnaire (DHQ) at baseline.

Observation on the efficacy of TPO receptor agonists and platelet transfusion in chemotherapy-induced thrombocytopenia in malignant tumors.

Objective: To observe the clinical efficacy of TPO receptor agonists and platelet transfusion in chemotherapy-induced thrombocytopenia in malignant tumors.

Methods: Clinical data from 120 patients with malignant tumors who developed thrombocytopenia following chemotherapy at our hospital were retrospectively collected and randomly divided into three groups: A, B, and C, with 40 patients in each group. Group A was treated with a TPO receptor agonist (avatrombopag), group B received autologous platelet transfusion, and group C received a combination of both treatments.

Dynamic switching between brain networks predicts creative ability.

Creativity is hypothesized to arise from a mental state which balances spontaneous thought and cognitive control, corresponding to functional connectivity between the brain's Default Mode (DMN) and Executive Control (ECN) Networks. Here, we conduct a large-scale, multi-center examination of this hypothesis. Employing a meta-analytic network neuroscience approach, we analyze resting-state fMRI and creative task performance across 10 independent samples from Austria, Canada, China, Japan, and the United States (N = 2433)-constituting the largest and most ethnically diverse creativity neuroscience study to date.

Diagnostic value and fracture healing-preventing effect of upregulated microRNA-4534 in patients with osteoporotic fractures.

Background: Osteoporosis fracture is a common and most serious complication of osteoporosis.

Hypothesis: This study sought to assess the level, the diagnostic potential, and the effect of circulating miR-4534 in osteoporotic fractures.

Methods: GSE74209 and GSE93883 were analyzed using GEO2R online tool for differentially expressed microRNAs in osteoporotic fractures.

DNA origami-based composite nanosandwich for iteratively potentiated chemo-immunotherapy.

Developing effective nanoplatforms for chemo-immunotherapy to achieve enhanced tumor suppression and systemic antitumor immunity has recently received extensive attention. Herein, we formulated a multifunctional DNA sandwich nanodevice, DSWAC/siPD-L1, based on triangular DNA origami, to implement enhanced cancer chemo-immunotherapy. Taking advantage of the tumor-targeting ability of the AS1411 aptamer, DSWAC/siPD-L1 efficiently delivered doxorubicin (DOX), CpG, and siPD-L1 into tumor cells.

Inter-Species Dynamics of Non-Coding RNAs: Impact on Host Immunomodulation and Pathogen Survival.

Non-coding RNAs (ncRNAs) are composed of nucleotides that do not encode proteins but instead serve as guides. It interacts with amino acids at precise genomic sites, influencing chromatin structure and gene expression. These ncRNAs contribute to numerous inter-species dynamics, including those within the vector-host-pathogen triad.

Gut microbial GABA imbalance emerges as a metabolic signature in mild autism spectrum disorder linked to overrepresented Escherichia.

Gut microbiota (GM) alterations have been implicated in autism spectrum disorder (ASD), yet the specific functional architecture remains elusive. Here, employing multi-omics approaches, we investigate stool samples from two distinct cohorts comprising 203 children with mild ASD or typical development. In our screening cohort, regression-based analysis for metabolomic profiling identifies an elevated γ-aminobutyric acid (GABA) to glutamate (Glu) ratio as a metabolic signature of ASD, independent of age and gender.

Fabrication and characterization of non-diary whipped creams: Influence of oleogel.

Non-dairy whipped creams (NDWC) are a typical food emulsion system and are gaining popularity among consumers. Oleogels as reasonable alternatives to trans and saturated fats in foods show great potential application in NDWC. Effects of different proportions of oleogel (30 %-70 %) as base oil on the crystallization behavior, appearance, interface and rheological properties of NDWC were evaluated.

Molecular Dynamics Study of Protein-Mediated Electroporation of Kv Channels Induced by nsPEFs: Advantages of Bipolar Pulses.

Nanosecond pulsed electric fields (nsPEFs) can induce protein-mediated electroporation (PMEP) in voltage-gated ion channels. However, their effects on the tetrameric structure of voltage-gated potassium (Kv) channels remain unexplored. Our study pioneered the molecular dynamics (MD) investigation of the open-state (O) Kv channel to understand the effects of PMEP under unipolar and bipolar pulses (UP and BP).

Transcatheter rectal arterial chemoembolization with oxaliplatin and concurrent chemoradiotherapy in patients with locally advanced rectal cancer: A retrospective comparative study.

Background: The aim of the study is to assess whether transcatheter rectal arterial chemoembolization (TRACE) with oxaliplatin could increase the pathologic complete response (pCR) rate of locally advanced rectal cancer (LARC) and improve survival outcomes, while minimizing adverse events compared to preoperative chemoradiotherapy (CRT) alone.

Methods: Eligible LARC patients who received TRACE with oxaliplatin plus chemoradiotherapy (the NATRACE-CRT group) or preoperative CRT alone (the NA-CRT group) were retrospectively selected from the database of our institution. Pathological results, treatment-related adverse events and survival in the two groups were compared.

Genistein-3'-sodium sulfonate suppresses NLRP3-mediated cell pyroptosis after cerebral ischemia.

Cerebral ischemia-induced pyroptosis contributes to the dissemination of neuroinflammation, and Nod-like receptor protein-3 (NLRP3) inflammasome plays a key role in this process. Previous studies have indicated that Genistein-3'-sodiumsulfonate (GSS) can inhibit neuroinflammation caused by cerebral ischemia, exert cerebroprotective effects, but its specific mechanism has not been comprehensively understood. The aim of this study was to explore the effect of GSS on ischemic stroke-induced cell pyroptosis.

Association between hormone therapy and glioma risk in US women: a cancer screening trial.

Objective: Gliomas are the most common primary brain tumors in adults, and the role of hormone therapy (HT) in their development remains controversial. This study with a cohort design aimed to investigate the association between HT use and glioma risk using the data from the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial.

Methods: We analyzed data from 75,335 women, aged 50-78, who were enrolled between 1993 and 2001.

Pt ( = 1, 3, and 4) Cluster-Modified MoSe Nanosheets: A Potential Sensing and Scavenging Candidate for Lithium-Ion Battery State Characteristic Gases.

Realizing reliable online detection of characteristic gases (H, CH, CO, and CO) in lithium-ion batteries is crucial to maintain the safe and stable operation of power equipment and new energy storage power plants. In this study, transition metal Pt ( = 1, 3, and 4) clusters are attached to MoSe nanosheets for the first time based on density functional theory using the perfect crystalline facet modification method, and the adsorption characteristics and electronic behaviors of H, CH, CO, and CO are investigated and enhanced. The results show that Pt ( = 1, 3, and 4) is reliably chemically connected to the substrate without any significant deformation of the geometry.

Exploring common and distinct neural basis of procrastination and impulsivity through elastic net regression.

Prior work highlighted that procrastination and impulsivity shared a common neuroanatomical basis in the dorsolateral prefrontal cortex, implying a tight relationship between these traits. However, theorists hold that procrastination is motivated by avoiding aversiveness, while impulsivity is driven by approaching immediate pleasure. Hence, exploring the common and distinct neural basis underlying procrastination and impulsivity through functional neuroimaging becomes imperative.

Copper-catalysed radical cascade reaction of -(2-oxo-2-phenylethyl) substituted 2-pyridones with styrene to access 1,6-carboannulated 2-pyridone scaffolds.

Herein, we present that treating -(2-oxo-2-phenylethyl) substituted 2-pyridones with styrenes in DMSO/HO at 120 °C affords 1,6-carboannulated 2-pyridone scaffolds with up to 79% yield. This protocol provides a simple and efficient method for obtaining complicated bicyclic 2-pyridones through a radical cascade reaction. Additionally, we have successfully synthesized 27 target compounds, which confirms the practicality and wide applicability of the proposed reaction.

Unraveling the conversion mechanism toward spinel sulfides as cathode materials for Mg-ion batteries.

Rechargeable Mg batteries are promising candidates for achieving considerable high-energy-density. Enhancing the energy density can be achieved by integrating metallic Mg anodes with conversion-type cathode materials, which are characterized by multi-electron transfer process and elevated specific capacities in contrast to intercalation-type materials. Despite these advantages, the conversion-type cathodes still have some challenges of substantial volume expansion, sluggish diffusion kinetics and intricate mesophase evolution during repeated electrochemical reactions.

Proteomics unveil candidate biomarkers and pathogenesis of subacute thyroiditis.

Subacute thyroiditis (SAT) is an inflammatory thyroid disease characterized by neck pain, tenderness, general symptoms, and thyroid dysfunction. Despite gaining new insights into the epidemiology, pathogenesis, and treatment of SAT in recent years, the exact pathogenesis and determinants of its clinical progression remain unclear. Here, we profiled thyroid in situ protein alterations in fine needle aspiration biopsy samples from SAT patients using proteomic analysis and uncovered 57 differentially abundant proteins.

Validation Status of Electronic Sphygmomanometers in China: A National Survey.

Background: Although the information on the validation status of electronic sphygmomanometer (ES) devices in use in health care institutions and households is much more clinically relevant than that of ES models available on the market, it remains insufficient.

Methods: A national survey was conducted across all administrative regions of mainland China to assess the validation status of ESs. Fifty-eight cities were selected with stratification by municipality, provincial capital, and other cities, and health care institutions and households in each city were chosen by convenience to identify ES devices in use according to the study protocol.

Combined transcriptomic and metabolomic analyses reveal the pharmacognostic mechanism of the metabolism of flavonoids in different parts of Polygonum capitatum.

The plant Polygonum capitatum (P. capitatum) contains a variety of flavonoids that are distributed differently among different parts. Nevertheless, differentially expressed genes (DEGs) associated with this heterogeneous distribution have not been identified.

Advancing allergic rhinitis research through phenome-wide association studies: Insights from known genetic loci.

Background: Allergic rhinitis (AR) is a common chronic respiratory disease that can lead to the development of various other conditions. Although genetic risk loci associated with AR have been reported, the connections between these loci and AR comorbidities or other diseases remain unclear.

Methods: This study conducted a phenome-wide association study (PheWAS) using known AR risk loci to explore the impact of known AR risk variants on a broad spectrum of phenotypes.

High‑intensity focused ultrasound thermal ablation boosts the efficacy of immune checkpoint inhibitors in advanced cancers with liver metastases: A single‑center retrospective cohort study.

High-intensity focused ultrasound thermal ablation (HIFU) is a novel non-invasive technique in the treatment of liver metastases (LIM) that allows focal destruction and is not affected by dose limits. This retrospective study aimed to explore the efficacy of HIFU in improving survival and the safety of the method in newly diagnosed patients with cancer with LIM who received first-line immune checkpoint inhibitor (ICI) therapy. Between January 2018 and December 2023, data from 438 newly diagnosed patients with cancer and LIM who were treated at Mianyang Central Hospital (Mianyang, China) were reviewed.

Design, Synthesis, Biological Evaluation and Docking Studies of 2-hydroxy-4-benzyloxy Chalcone Derivatives as Multifunctional Agents for the Treatment of Alzheimer's Disease.

Objectives: Alzheimer's disease (AD) is the most prevalent neurodegenerative disorder, but no drugs can cure this disease. Chalcones possess good antioxidant activity, anti-neuroinflammatory activity, neuroprotective effects, inhibitory effects on Aβ aggregation, and Aβ disaggregation ability. Therefore, chalcones are ideal lead compounds, and the discovery of novel anti-AD agent-based chalcones is necessary.

The Evolution of Nucleic Acid Nanotechnology: From DNA Assembly to DNA-Encoded Library.

Deoxyribonucleic acid (DNA), a fundamental biomacromolecule in living organisms, serves as the carrier of genetic information. Beyond its role in encoding biological functions, DNA's inherent ability to hybridize through base pairing has opened new avenues for its application in biological sciences. This review introduces DNA nanotechnology and DNA-encoded library (DEL), and highlights their shared design principles related to DNA assembly.