Corneal Biomechanics Are Associated With FBN1 Mutations in Patients With Marfan Syndrome and Ectopia Lentis.

Background: We investigated the corneal biomechanical properties and their genotype-phenotype correlation correlations in patients with Marfan syndrome (MFS) and ectopia lentis (EL).

Methods: Patients with MFS with EL underwent panel-based next-generation sequencing in this retrospective cohort study. The FBN1 genotypes were categorized into the dominant-negative (DN) group and the haploinsufficiency (HI) group.

Cerebrospinal fluid circulating tumor DNA profiling for risk stratification and matched treatment of central nervous system metastases.

Genomic profiling of central nervous system (CNS) metastases has the potential to guide treatments. In the present study, we included 584 patients with non-small-cell lung cancer and CNS metastases and performed a comprehensive analysis of cerebrospinal fluid (CSF) circulating tumor DNA (ctDNA) with clinicopathological annotation. CSF ctDNA-positive detection was independently associated with shorter survival than negative detection (hazard ratio (HR) = 1.

Fast reconstruction and optical-sectioning three-dimensional structured illumination microscopy.

Three-dimensional structured illumination microscopy (3DSIM) is a popular method for observing subcellular/cellular structures or animal/plant tissues with gentle phototoxicity and 3D super-resolution. However, its time-consuming reconstruction process poses challenges for high-throughput imaging and real-time observation. Moreover, traditional 3DSIM typically requires more than six layers for successful reconstruction and is susceptible to defocused backgrounds.

iDIA-QC: AI-empowered data-independent acquisition mass spectrometry-based quality control.

Quality control (QC) in mass spectrometry (MS)-based proteomics is mainly based on data-dependent acquisition (DDA) analysis of standard samples. Here, we collect 2754 files acquired by data independent acquisition (DIA) and paired 2638 DDA files from mouse liver digests using 21 mass spectrometers across nine laboratories over 31 months. Our data demonstrate that DIA-based LC-MS/MS-related consensus QC metrics exhibit higher sensitivity compared to DDA-based QC metrics in detecting changes in LC-MS status.

UDA-seq: universal droplet microfluidics-based combinatorial indexing for massive-scale multimodal single-cell sequencing.

The use of single-cell combinatorial indexing sequencing via droplet microfluidics presents an attractive approach for balancing cost, scalability, robustness and accessibility. However, existing methods often require tailored protocols for individual modalities, limiting their automation potential and clinical applicability. To address this, we introduce UDA-seq, a universal workflow that integrates a post-indexing step to enhance throughput and systematically adapt existing droplet-based single-cell multimodal methods.

Differential Connectivity Patterns of Mild Cognitive Impairment in Alzheimer's and Parkinson's Disease: A Large-scale Brain Network Study.

Rationale And Objectives: Cognitive disorders, such as Alzheimer's disease (AD) and Parkinson's disease (PD), significantly impact the quality of life in older adults. Mild cognitive impairment (MCI) is a critical stage for intervention and can predict the development of dementia. The causes of these two diseases are not fully understood, but there is an overlap in their neuropathology.

Improving polyketide biosynthesis by rescuing the translation of truncated mRNAs into functional polyketide synthase subunits.

Modular polyketide synthases (mPKSs) are multidomain enzymes in bacteria that synthesize a variety of pharmaceutically important compounds. mPKS genes are usually longer than 10 kb and organized in operons. To understand the transcriptional and translational characteristics of these large genes, here we split the 13-kb busA gene, encoding a 456-kDa three-module PKS for butenyl-spinosyn biosynthesis, into three smaller separately translated genes encoding one PKS module in an operon.

BRISC-Mediated PPM1B-K63 Deubiquitination and Subsequent TGF-β Pathway Activation Promote High-Fat/High-Sucrose Diet-Induced Arterial Stiffness.

Background: Metabolic syndrome heightens cardiovascular disease risk primarily through increased arterial stiffness. We previously demonstrated the involvement of YAP (Yes-associated protein) in high-fat/high-sucrose diet (HFHSD)-induced arterial stiffness via modulation of PPM1B (protein phosphatase Mg/Mn-dependent 1B)-lysine 63(K63) deubiquitination. In this study, we aimed to elucidate the role and mechanisms underlying PPM1B deubiquitination in HFHSD-induced arterial stiffness.

Proposal of one new family, seven new genera and seventy new basidiomycetous yeast species mostly isolated from Tibet and Yunnan provinces, China.

More than 2 000 yeast strains isolated from 1 200 samples mostly collected from Tibet and Yunnan provinces in China were identified as 462 species according to the internal transcribed spacer including the 5.8S rDNA (ITS) and the D1/D2 domains of the large subunit rDNA (LSU) sequence analyses. Among them, 70 new basidiomycetous yeast species were proposed based on the multi-locus phylogenetic analyses including the D1/D2 domains, the ITS, the small subunit rDNA (SSU), the largest subunit of RNA polymerase II (), the second largest subunit of RNA polymerase II () and translation elongation factor 1-α (), as well as the phenotypic comparisons.

Restoring Mitochondrial Quantity and Quality to Reverse Warburg Effect and Drive Tumor Differentiation.

Reduced mitochondrial quality and quantity in tumors is associated with dedifferentiation and increased malignancy. However, it remains unclear how to restore mitochondrial quantity and quality in tumors, and whether mitochondrial restoration can drive tumor differentiation. Our study shows that restoring mitochondrial function using retinoic acid (RA) to boost mitochondrial biogenesis and a mitochondrial uncoupler to enhance respiration synergistically drives neuroblastoma differentiation and inhibits proliferation.

Serum GFAP and UCH-L1 Levels for the Assessment of the Absence of Hemorrhagic Transformation: A Multicenter Prospective Cohort Study.

Background: Currently, validated biomarkers for assessing hemorrhagic transformation (HT) after intravenous thrombolysis (IVT) are lacking. We aimed to validate a test combining GFAP (glial fibrillary acidic protein) and UCH-L1 (ubiquitin C-terminal hydrolase-L1) to indicate the absence of HT after IVT.

Methods: We prospectively enrolled consecutive patients with stroke treated with IVT from 16 hospitals.

Relationship Between Physical Literacy and Cardiorespiratory Fitness in Children and Adolescents: A Systematic Review and Meta-analysis.

Background: Physical literacy (PL) can positively affect the health of children, adolescents, and adults, and is closely related to cardiorespiratory fitness (CRF).

Objective: To perform a systematic review and meta-analysis to examine the relationship between overall physical literacy (PL) and CRF in children and adolescents.

Methods: Cross-sectional, cohort and experimental studies on the relationship between PL and CRF in children and adolescents were collected by searching the Web of Science Core Collection, PubMed, EBSCOhost, ScienceDirect, Cochrane Library and China National Knowledge Infrastructure (CNKI) databases.

Construction of diagnostic models with machine-learning algorithms for colorectal cancer based on clinical laboratory parameters.

Background: Colonoscopy remains the predominant diagnostic modality for colorectal cancer (CRC), as the diagnostic performance of tumor markers in alone, particularly in the early stages of the disease, is limited. This study sought to develop a diagnostic model for CRC that integrated various laboratory parameters.

Methods: One hundred patients with CRC were assigned to an experimental group while 114 with benign colorectal diseases and 101 healthy individuals were assigned to a control group.

Utilizing artificial intelligence to determine bone mineral density using spectral CT.

Background: Dual-energy computed tomography (DECT) has demonstrated the feasibility of using HAP-water to respond to BMD changes without requiring dedicated software or calibration. Artificial intelligence (AI) has been utilized for diagnosising osteoporosis in routine CT scans but has rarely been used in DECT. This study investigated the diagnostic performance of an AI system for osteoporosis screening using DECT images with reference quantitative CT (QCT).

Long- and short-term outcomes for resectable gallbladder carcinoma patients treated with curative-intent laparoscopic versus open resection: a multicenter propensity score-matched comparative study.

Background: Gallbladder cancer (GBC) was once considered a contraindication for laparoscopic surgery, but it is becoming more common to use laparoscopic surgery for GBC treatment. The aim of this study was to analyze the long- and short-term outcomes of patients with more advanced T-staged GBC treated with curative intent as defined by the National Comprehensive Cancer Network (NCCN) after laparoscopic resection (LR) versus open resection (OR).

Methods: A multicenter database was used to select consecutive GBC patients treated with curative-intent resection as defined by the NCCN between 2016 and 2020.

Decision Fusion Model for Predicting Microvascular Invasion in Hepatocellular Carcinoma Based on Multi-MR Habitat Imaging and Machine-Learning Classifiers.

Rationale And Objectives: Accurate prediction of microvascular invasion (MVI) in hepatocellular carcinoma (HCC) is crucial for guiding treatment. This study evaluates and compares the performance of clinicoradiologic, traditional radiomics, deep-learning radiomics, feature fusion, and decision fusion models based on multi-region MR habitat imaging using six machine-learning classifiers.

Materials And Methods: We retrospectively included 300 HCC patients.

Image-Based Auto-Focus Microscope System with Visual Servo Control for Micro-Stereolithography.

Micro-stereolithography (μSL) is an advanced additive manufacturing technique that enables the fabrication of highly precise microstructures with fine feature resolution. One of the primary challenges in μSL is achieving and maintaining precise focus throughout the fabrication process. For the successful application of μSL, it is essential to maintain the sample surface within a focal depth of several microns.

Deucravacitinib, an oral selective allosteric tyrosine kinase 2 inhibitor, in patients from China mainland, Taiwan and South Korea with moderate-to-severe plaque psoriasis: a phase III randomized clinical trial.

Background: Deucravacitinib, an oral selective allosteric tyrosine kinase 2 inhibitor, is approved in the USA, the European Union, Japan, South Korea, China and other countries for the treatment of moderate-to-severe plaque psoriasis.

Objectives: To evaluate the efficacy and safety of deucravacitinib in Asian patients with moderate-to-severe plaque psoriasis.

Methods: In the 52-week blinded phase III POETYK PSO-3 trial (NCT04167462), patients were randomized 1 : 2 to placebo (n = 74) or deucravacitinib 6 mg once daily (n = 146) for 16 weeks followed by deucravacitinib alone.

ASGR1 Deficiency Inhibits Atherosclerosis in Western Diet-Fed Mice by Regulating Lipoprotein Metabolism and Promoting Cholesterol Efflux.

Background: Atherosclerosis is the most common cause of cardiovascular diseases. Clinical studies indicate that loss-of-function ASGR1 (asialoglycoprotein receptor 1) is significantly associated with lower plasma cholesterol levels and reduces cardiovascular disease risk. However, the effect of ASGR1 on atherosclerosis remains incompletely understood; whether inhibition of ASGR1 causes liver injury remains controversial.