Diagnosis and treatment of Von Hippel-Lindau syndrome: A case series.

The objective of the present case report was to explore the clinical approaches to diagnosing and managing Von Hippel-Lindau (VHL) syndrome. A retrospective review was performed on the clinical presentations, imaging findings and family genetic histories of four patients diagnosed with VHL syndrome. Their clinical features and treatment strategies were systematically analyzed.

Integrating Graph Convolutional Networks for Missing Gene Expression Imputation.

Single-cell RNA sequencing (scRNA-seq) techniques are emerging to revolutionize modern biomedical sciences by providing a detailed landscape of individual cells. However, these methods often lack crucial spatial localization information. To address this gap, spatial transcriptomic technologies have developed, enabling gene expression profiling while mapping cells spatial information.

Comprehensive demonstration of link fiber-induced spurious signals in interferometric FBG hydrophones.

The interferometric Fiber Bragg Grating (FBG) hydrophone has wide applications in ocean acoustic detection and seismic wave monitoring. The interference signal from external sources is routed to the elements through the link fiber connecting the dry and wet ends, which is a critical bottleneck that limits system performance. This paper presents a comprehensive model for link fiber-induced spurious signals, which demonstrates the physical processes and signal characteristics of the Doppler effect and the Rayleigh scattering effect, illustrating how they interact to generate the link interference signal.

Integrating Gene Ontology Relationships for Protein Function Prediction Using PFresGO.

Efficient computational methods for protein functional annotation help bridge the gap between high-throughput sequence data and unknown protein functions. While many data-driven methods predict protein functions based on protein-level information, they often overlook the relationships between different functions. In this work, we introduce PFresGO, an attention-based deep learning approach that utilizes the hierarchical structure of gene ontology (GO) graphs to predict multiple protein functions in a high-throughput manner.

Nanoconfined Catalysts for Persulfate-Based Fenton-Like Oxidation: Mechanisms, Selectivity, and Environmental Applications.

Persulfate (PS)-based Fenton-like advanced oxidation processes (AOPs) have emerged as promising strategies for the degradation of emerging pollutants. Nevertheless, their practical deployment remains hindered by low PS utilization efficiency, poorly controlled generation of reactive species, and limited catalyst durability. Nanoconfinement engineering has emerged as a powerful strategy to overcome these limitations by tailoring the catalytic microenvironment at the nanoscale.

Evaluation of the volume and function of the right atrial appendage using computed tomography.

Objective: To assess the volume and function of the right atrial appendage (RAA) in patients with sinus rhythm using 256-slice spiral computed tomography (CT) angiography.

Methods: A total of 60 patients with normal cardiac CT imaging features were enrolled in this retrospective study. The raw imaging data were used to reconstruct 3D images, which were analyzed to measure the volume of the RAA and right atrium (RA) throughout the cardiac cycle, and to obtain the maximum and minimum volume of the RAA and RA (RAAVmax, RAAVmin and RAVmax, RAVmin).

Diagnostic value of [F]PSMA-1007 PET/CT based on PRIMARY score combined with mpMRI in clinically significant prostate cancer.

Introduction: This study aimed to assess the diagnostic efficacy of the PRIMARY score, based on the F-labeled prostate-specific membrane antigen (PSMA-1007) positron emission tomography (PET)/computed tomography (CT) with multiparametric magnetic resonance imaging (mpMRI) PI-RADS, in detecting clinically significant prostate cancer (csPCa).

Materials And Methods: In this retrospective cohort study, 137 patients with suspected prostate cancer (PCa) underwent [F]PSMA-1007 PET/CT and mpMRI before transrectal ultrasound (TRUS)-guided needle biopsy was performed. Patients were categorized into csPCa and non-csPCa groups based on histopathological findings.

Delayed forebrain excitatory and inhibitory neurogenesis in STRADA-related megalencephaly via mTOR hyperactivity.

Biallelic pathogenic variants in , an upstream regulator of the mechanistic target of rapamycin (mTOR) pathway, result in megalencephaly, drug-resistant epilepsy, and severe intellectual disability. This study explores how mTOR pathway hyperactivity alters cell fate specification in dorsal and ventral forebrain development using knock-out human stem cell derived brain organoids. In both dorsal and ventral forebrain knock-out organoids, neurogenesis is delayed, with a predilection for progenitor renewal and proliferation and an increase in outer radial glia.

Tissue Engineered Cartilage Repair Using Small-Incision Implantation of Decalcified Corticocancellous Bone Scaffold.

Treatment of cartilage injuries is a prominent topic internationally. Recently, tissue engineering has been used to repair cartilage injury. In China, several scaffolds have been approved for clinical trials aimed at cartilage repairing.

Elucidating How Terminal Capping of Tau Hexapeptide PHF6 Modulates the Interactions between PHF6 Fibrils and Membranes.

Abnormal aggregation of tau protein into β-sheet amyloid fibrils is closely associated with Alzheimer's disease and other tauopathies. Interactions between tau and cell membranes can lead to accelerated fibrillization and membrane deformation, serving as a toxicity pathway for tau aggregation. The tau fibril-nucleating core motif PHF6 (VQIVYK) has been reported to play a key role in tau-membrane interactions.

Computational Exploration of the Inhibitory Mechanism of mRNA against the Phase Separation of hnRNPA2 Low Complexity Domains.

hnRNPA2, an RNA-binding protein involved in RNA metabolism and regulation, can undergo liquid-liquid phase separation (LLPS) to form dynamic biomolecular condensates. Previous experiments have reported that RNA molecules can inhibit the LLPS of the hnRNPA2 low complexity domain (LCD). However, the atomistic mechanisms underlying this inhibitory effect and RNA-LCD interactions remain largely elusive.

SFM-Net: Selective Fusion of Multiway Protein Feature Network for Predicting Binding Affinity Changes upon Mutations.

Accurately predicting the effect of mutations on protein-protein interactions (PPIs) is essential for understanding the protein structure and function, as well as providing insights into disease-causing mechanisms. Many recent popular approaches based on the three-dimensional structure of proteins have been proposed to predict the changes in binding affinity caused by mutations, i.e.

Recent Advances in Co-Condensation and Co-Aggregation of Amyloid Proteins Linked to Neurodegenerative Diseases.

The misfolding and aggregation of amyloid proteins are closely associated with a range of neurodegenerative diseases. Liquid-liquid phase separation (LLPS) can initiate the aggregation of proteins, indicating that LLPS may serve as an alternative pathway for the pathological aggregation of amyloid proteins. The co-occurrence of two or more amyloid pathologies has been observed in extensive pathophysiological studies and is linked to faster disease progression.

Chickpea-resistant starch exhibits bioactive function for alleviating atopic dermatitis via regulating butyrate production.

Resistant starch (RS) is one of the bioactive polysaccharides to produce Short-chain fatty acids (SCFAs) in the colon and contributes to allergic diseases including atopic dermatitis (AD). However, the bioactive mechanism of RS relieving AD needs to be elucidated. In this study, RS was prepared using chickpeas.

Dietary cinnamon promotes longevity and extends healthspan via mTORC1 and autophagy signaling.

Cinnamon, renowned for its aromatic flavor, represents one of the most widely used spices worldwide. Cinnamon is also considered beneficial to human health with therapeutic potential for treating various diseases, ranging from diabetes and cancer to neurodegenerative diseases. However, the mechanisms underlying cinnamon's health benefits remain elusive.

SCREEN: A Graph-based Contrastive Learning Tool to Infer Catalytic Residues and Assess Enzyme Mutations.

The accurate identification of catalytic residues contributes to our understanding of enzyme functions in biological processes and pathways. The increasing number of protein sequences necessitates computational tools for the automated prediction of catalytic residues in enzymes. Here, we introduce SCREEN, a graph neural network for the high-throughput prediction of catalytic residues via the integration of enzyme functional and structural information.

A universe of human gut-derived bacterial prophages: unveiling the hidden viral players in intestinal microecology.

Prophages, which are an existing form of temperate phages that integrate into host genomes, have been found extensively present in diverse bacterial species. The human gut microbiome, characterized by its complexity, dynamism, and interconnectivity among multiple species, remains inadequately understood in terms of the global landscape of bacterial prophages. Here, we analyzed 43,942 human gut-derived bacterial genomes (439 species of 12 phyla) and identified 105,613 prophage regions in ~ 92% of them.

Pathogenic Mutation ΔK280 Promotes Hydrophobic Interactions Involving Microtubule-Binding Domain and Enhances Liquid-Liquid Phase Separation of Tau.

Liquid-liquid phase separation (LLPS) of tau protein can initiate its aggregation which is associated with Alzheimer's disease. The pathogenic mutation ΔK280 can enhance the aggregation of K18, a truncated tau variant comprising the microtubule-binding domain. However, the impact of ΔK280 on K18 LLPS and underlying mechanisms are largely unexplored.

Gut microbiota determines the fate of dietary fiber-targeted interventions in host health.

Epidemiological investigation confirmed that the intake of dietary fiber (DF) is closely related to human health, and the most important factor affecting the physiological function of DF, besides its physicochemical properties, is the gut microbiota. This paper mainly summarizes the interaction between DF and gut microbiota, including the influence of DF on the colonization of gut microbiota based on its different physicochemical properties, and the physiological role of gut microbiota in destroying the complex molecular structure of DF by encoding carbohydrate-active enzymes, thus producing small molecular products that affect the metabolism of the host. Taking cardiovascular disease (Atherosclerosis and hypertension), liver disease, and immune diseases as examples, it is confirmed that some DF, such as fructo-oligosaccharide, galactooligosaccharide, xylo-oligosaccharide, and inulin, have prebiotic-like physiological effects.

Engineered CRISPR RNA improves the RNA cleavage efficiency of hfCas13X.

As the most compact variant in the Cas13 family, CRISPR-Cas13X holds considerable promise for gene therapy applications. The development of high-fidelity Cas13X (hfCas13X) mutants has enhanced the safety profile for in vivo applications. However, a notable reduction in on-target cleavage efficiency accompanies the diminished collateral cleavage activity in hfCas13X.

Advancing microRNA target site prediction with transformer and base-pairing patterns.

MicroRNAs (miRNAs) are short non-coding RNAs involved in various cellular processes, playing a crucial role in gene regulation. Identifying miRNA targets remains a central challenge and is pivotal for elucidating the complex gene regulatory networks. Traditional computational approaches have predominantly focused on identifying miRNA targets through perfect Watson-Crick base pairings within the seed region, referred to as canonical sites.

Apelin (APLN) is a biomarker contributing to the diagnosis and prognosis of hepatocellular carcinoma.

Liver cancer, classified as a malignant hepatic tumor, can be divided into two categories: primary, originating within the liver, and secondary, resulting from metastasis to the liver from other organs. Hepatocellular carcinoma (HCC) is the main form of primary liver cancer and the third leading cause of cancer-related deaths. The diagnosis and prognosis of HCC using current methods still face numerous challenges.