Therapeutic Opportunities of Marfan Syndrome: Current Perspectives.

Marfan syndrome (MFS) is a hereditary connective tissue disorder that is primarily caused by mutations in the fibrillin-1 () gene. This disease predominantly affects the eyes, bones, and cardiovascular system, with cardiovascular complications posing the most significant threat to life. Currently, conventional treatments, which are based on pharmacological management and surgical interventions, aim to slow disease progression and manage life-threatening cardiovascular complications.

Exploring the role of VAV2 rare variants in primary open-angle glaucoma: genetic insights and pathophysiological mechanisms.

Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide, primarily due to the degeneration of retinal ganglion cells (RGCs). In this study, we reported vav guanine nucleotide exchange factor 2 (VAV2) as a POAG-associated gene. Through whole exome sequencing (WES) of 398 Han Chinese POAG patients and 2,010 controls, we discovered nine rare VAV2 variants linked to POAG (P_burden=1.

Genome-wide discovery of circulating cell-free DNA methylation signatures for the differential diagnosis of triple-negative breast cancer.

Background: Preoperative identification of breast cancer (BC) subtypes is essential for optimizing treatment strategies and improving patient outcomes. This study aimed to identify circulating cell-free DNA (cfDNA) methylation signatures to differentiate triple-negative breast cancer (TNBC) from other BC subtypes (non-TNBC).

Methods: We initially performed a genome-wide analysis to identify differentially methylated CpG sites (DMCs; |Δ| > 0.

hUC-MSCs and derived exosomes attenuate DEX-induced muscle atrophy through modulation of estrogen signaling pathway.

Background: Sarcopenia, a multifactorial syndrome characterized by progressive loss of skeletal muscle mass and strength, combined with impaired physical function, is associated primarily with aging but also driven by chronic inflammation, immobility, and endocrine dysregulation. It leads to increased risks of frailty, falls, and loss of independence, posing a major public health challenge for aging populations. Although human umbilical cord-derived mesenchymal stem cells (hUC-MSCs) and their derived exosomes (MSC-Exos) have demonstrated remarkable potential in regenerative medicine, their safety and efficacy in treating sarcopenia remain unclear.

A radiomics-clinical predictive model for difficult laparoscopic cholecystectomy based on preoperative CT imaging: a retrospective single center study.

Background: Accurately identifying difficult laparoscopic cholecystectomy (DLC) preoperatively remains a clinical challenge. Previous studies utilizing clinical variables or morphological imaging markers have demonstrated suboptimal predictive performance. This study aims to develop an optimal radiomics-clinical model by integrating preoperative CT-based radiomics features with clinical characteristics.

Highly dispersion single Rh species on CoMnO spinel oxides nanosphere for water gas shift reaction.

Spinel oxides have garnered significant attention owing to their exceptional physicochemical characteristics. Herein, single Rh species were deposited onto CoMnO spinel oxides using a deposition-precipitation method for the water gas shift (WGS) reaction. Structural characterization results indicate that the Rh species predominantly exist as single Rh atoms (xRh/CoMnO, x = 0.

Discovery and validation of cell-free DNA methylation markers for specific diagnosis, differentiation from benign tumors, and prognosis of breast cancer.

Background: Plasma cell-free DNA (cfDNA) methylation is emerging as a non-invasive marker for various cancers. We aimed to identify specific methylation markers for diagnosis, differentiation from benign tumors, and prognosis of breast cancer (BC), which are essential for clinical decision-making yet seldom examined together.

Methods: BC-specific methylation markers were identified using an in-house 850K dataset combined with large-scale publicly available 450 or 850K datasets.

High-Stability Defect Engineering in MOFs via Chemical Induction for Advanced SERS Substrate Preparation.

Induced vacancy defects have been strategically employed to enhance the performance of semiconductor substrates for surface-enhanced Raman scattering (SERS) applications such as chemical sensing and biosensing. However, maintaining these induced vacancy defects over prolonged use remains a significant challenge, as they tend to rapidly self-heal when exposed to air. In this study, we demonstrate that chemically induced oxygen vacancy (CIVO) defects can stabilize defect sites in the metal-organic framework (MOF) SERS substrate.

Preoperative prediction model for benign and malignant gallbladder polyps on the basis of machine-learning algorithms.

Background: This study aimed to differentiate between benign and malignant gallbladder polyps preoperatively by developing a prediction model integrating preoperative transabdominal ultrasound and clinical features using machine-learning algorithms.

Methods: A retrospective analysis was conducted on clinical and ultrasound data from 1,050 patients at 2 centers who underwent cholecystectomy for gallbladder polyps. Six machine-learning algorithms were used to develop preoperative models for predicting benign and malignant gallbladder polyps.

Prognostic Value of Plaque Radial Wall Strain Analysis in Patients With Acute Myocardial Infarction After Complete Revascularization.

Background: Even after complete revascularization (CR), patients with acute myocardial infarction (AMI) still face significant risks of adverse events, frequently linked to vulnerable plaque progression in nonsignificant stenosis.

Aims: To investigate the relationship between the radial wall strain (RWS) of nonsignificant stenosis lesions and major adverse cardiac events (MACE) in patients with AMI following CR.

Methods: This cohort study included patients with AMI who received CR of all culprit and non-culprit lesions with diameter stenosis (DS%) > 70% during index or staged percutaneous coronary intervention within 45 days, with at least one de novo native lesion (DS% of 30%-70%) for RWS analysis.

Comparison of triglyceride-glucose related indices in prediction of cardiometabolic disease incidence among US midlife women.

The effects of triglyceride-glucose (TyG) related indices on cardiometabolic disease (CMD) are still unclear. Our study aimed to investigate the relationship between the TyG-related indices and CMD risk among midlife women. This retrospective observational cohort study utilized data from the 2020 SWAN participants.

Lead Derivative-Based Precursor Engineering Enables Halogen-Uniform Perovskite Solar Cells with Enhanced Stability and Mechanical Tolerance.

Perovskite solar cells (PSCs) with supreme opto-electrical properties and solution-processability have attracted tremendous interest. To realize state-of-the-art efficiencies in PSCs, delicate control of bandgap (E ) is required, which generally involves using mixed halogens. This, however, can result in unfavorable phase segregation to negatively influence on the target efficiency and long-term stability.

Coumarins attenuate intestinal motility by inhibiting TMEM16A.

Transmembrane 16A (TMEM16A) is highly expressed in interstitial cells of Cajal (ICC) and participates in ICC-mediated rhythmic contractile activity of intestinal smooth muscle. TMEM16A is also expressed in epithelium of intestine with a minor contributor to transepithelial fluid secretion, while other unidentified Ca -activated Cl - channels (unCaCCs) are mainly responsible for this physiological process. TMEM16A/CaCCs dysfunction can lead to disorders of intestinal motility and transepithelial fluid secretion.

Coronary morphological and functional features in subclinical hypothyroidism with ST-Elevation myocardial infarction.

Background: Subclinical hypothyroidism (SH), characterized by normal free tetraiodothyronine (FT4) but high hyroid-stimulating hormone (TSH), gains attention for relationship with cardiovascular diseases. This study aims to investigate coronary artery features of non-culprit lesions in SH patients with ST-elevation myocardial infarction (STEMI) to understand their intracoronary morphological and functional characteristics.

Methods: A retrospective study of 1,570 STEMI patients with ≥ 50% non-culprit lesions analyzed coronary angiography, optical coherence tomography (OCT) imaging, & quantitative flow ratio (QFR) data.

Clinical outcomes of His bundle pacing vs. right ventricular pacing in patients with conduction disturbances following transcatheter aortic valve replacement.

Objective: To assess and compare the clinical outcomes of His bundle pacing (HBP) versus right ventricular pacing (RVP) in patients who develop conduction disturbances following transcatheter aortic valve replacement (TAVR).

Methods: In this retrospective study, 120 patients who developed CD following TAVR were enrolled, and were implanted with HBP or RVP between January 2015 and December 2024. To adjust for variations in initial risk factors and baseline characteristics between patients who underwent HBP or RVP, we employed the propensity score matching.

A machine learning model based on preoperative multiparametric quantitative DWI can effectively predict the survival and recurrence risk of pancreatic ductal adenocarcinoma.

Purpose: To develop a machine learning (ML) model combining preoperative multiparametric diffusion-weighted imaging (DWI) and clinical features to better predict overall survival (OS) and recurrence-free survival (RFS) following radical surgery for pancreatic ductal adenocarcinoma (PDAC).

Materials And Methods: A retrospective analysis was conducted on 234 PDAC patients who underwent radical resection at two centers. Among 101 ML models tested for predicting postoperative OS and RFS, the best-performing model was identified based on comprehensive evaluation metrics, including C-index, Brier scores, AUC curves, clinical decision curves, and calibration curves.

Neural network powered microscopic system for cataract surgery.

Phacoemulsification with intraocular lens (IOL) implantation is a widely used effective treatment for cataracts. However, the surgical outcome relies heavily on precise operations with marked eye location and orientation, which ideally require a high-precision navigation system for complete guidance of surgical procedure. However, both research and current commercial surgical microscopes still face substantial challenges in handling various complex clinical scenarios.

Machine learning model reveals the risk, prognosis, and drug response of histamine-related signatures in pancreatic cancer.

Background: Histamine, a critical inflammatory mediator, is generated by both mast cells and specific tumor cells, and it plays a fundamental role in inflammatory and immune responses. In the current scientific landscape, histamine-related genes (HRGs) and their associated pathways have been validated to be implicated in the development and advancement of cancer. However, the precise role of HRGs in gauging the risk and predicting the prognosis of pancreatic adenocarcinoma (PAAD) remains nebulous.

Establishing a preoperative predictive model for gallbladder adenoma and cholesterol polyps based on machine learning: a multicentre retrospective study.

Background: With the rising diagnostic rate of gallbladder polypoid lesions (GPLs), differentiating benign cholesterol polyps from gallbladder adenomas with a higher preoperative malignancy risk is crucial. This study aimed to establish a preoperative prediction model capable of accurately distinguishing between gallbladder adenomas and cholesterol polyps using machine learning algorithms.

Materials And Methods: We retrospectively analysed the patients' clinical baseline data, serological indicators, and ultrasound imaging data.

Water Quality Characteristics and Seasonal Changes in Wastewater Treatment in the Southern Hebei Region by Branch.

This study analyzed three years of data (2021-2024) from three wastewater treatment plants (WWTPs), namely D, X, and T, in the main urban area of Handan, a typical city in the southern Hebei region, and investigated the influent characteristics and impact of temperature on these wastewater treatment facilities. With 90% assurance, the overall influent conditions of the three WWTPs in this region were normal. However, Plant T operated more effectively with slightly lower BOD/COD (B/C), organic carbon/total phosphorus (C/TP), and organic carbon/total nitrogen (C/TN) ratios in the influent.

Ahmed glaucoma valve implant for refractory glaucoma in children: A systematic review and meta-analysis.

Purpose: The aim of this study was to evaluate the efficacy and safety of the Ahmed glaucoma valve in pediatric patients with refractory glaucoma.

Methods: A comprehensive literature search was conducted across multiple major databases, including PubMed, Embase, the Cochrane Library of Systematic Reviews, Science Direct, China's National Knowledge Infrastructure, and the Wanfang database. We retrieved studies published before December 2022 that met the inclusion criteria, including clinical controlled trials (randomized controlled trials) and clinical noncontrolled trials (non-randomized controlled trials) on the use of Ahmed glaucoma valve in pediatric patients with refractory glaucoma.