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Regions of homozygosity (ROH) could implicate uniparental disomy (UPD) on specific chromosomes associated with imprinting disorders. Though the algorithms for ROH detection in exome sequencing (ES) have been developed, optimal reporting thresholds and when to pursue confirmatory UPD testing for imprinting disorders remain in ambiguity. This study used a data-driven approach to assess optimal reporting thresholds of ROH in clinical practice. ROH analysis was performed using Automap in a retrospective cohort of 8,219 patients and a prospective cohort of 1,964 patients with ES data. Cases with ROH on imprinting-disorders related chromosomes were selected for additional methylation-specific confirmatory testing. The diagnostic yield, the ROH pattern of eventually diagnosed cases and optimal thresholds for confirmatory testing were analyzed. In the retrospective analysis, 15 true UPD cases of imprinting disorders were confirmed among 51 suspected cases by ROH detection. Pattern of ROH differed between confirmed UPD and non-UPD cases. Maximized yield and minimized false discovery rate of confirmatory UPD testing was achieved at the thresholds of >20 Mb or >25 % chromosomal coverage for interstitial ROH, and >5 Mb for terminal ROH. Current recommendation by ACMG was nearly optimal, though refined thresholds as proposed in this study could reduce the workload by 31 % without losing any true UPD diagnosis. Our refined thresholds remained optimal after independent evaluation in a prospective cohort. ROH identified in ES could implicate the presence of clinically relevant UPD. This study recommended size and coverage thresholds for confirmatory UPD testing after ROH detection in ES, contributing to the development of evidence-based reporting guidelines. [ABSTRACT FROM AUTHOR]

The utilization of shape memory alloy (SMA) in shape memory fabric (SMF) has revolutionized thermal protective clothing, significantly enhancing its thermal protection. However, the cost- and time-consuming process of SMA shape memory training and performance testing can be optimized for improved efficiency. This study addresses this challenge by developing machine learning models to predict the thermal protection of a smart fabric system (SFS) with a SMF. The training data was sourced from the previous experimental studies, and six features significantly impacting thermal protection were identified. Results demonstrated that gradient boosting regressor (GBR) model exhibited the highest accuracy, with the SMA interval emerging as the most critical feature in determining thermal protection. Moreover, the GBR model predicted that SFS presented the best thermal protection when the dry SMF was woven by SMA of 2 cm interval and aramid 1414 of 20 roots/cm density, located between the moisture barrier and thermal liner vertically. [ABSTRACT FROM AUTHOR]

Despite antiscalants playing a critical role in desalination and cooling water systems, their potential to support microbial growth pose a significant threat to water treatment processes by promoting biofouling. In this work, a novel dual-function antiscalant carboxymethyl cellulose- graft -protocatechuic acid (CMC- g -PA) was prepared using plant-derived antibacterial protocatechuic acid (PA) and natural polysaccharide cellulose, and its scale inhibition effect on CaSO 4 scale and antibacterial performance on Escherichia coli (E. coli) and Staphylococcus aureus (S. aureus) were evaluated. Results indicated that the inhibition efficiency against CaSO 4 scale and the induction time of CaSO 4 crystallization process in the presence of CMC- g -PA were remarkably enhanced compared to unmodified CMC. Microscope and XRD characterizations demonstrated significant alterations in the crystal morphology and size of the formed scale using CMC- g -PA as antiscalant. Molecular dynamics (MD) analysis also showed that CMC- g -PA could intensively interact with the crystal plane of CaSO 4 with the binding energy reaching 746.73 kcal/mol, thereby affecting crystal growth and causing crystal distortion. Additionally, an obvious inhibitory effect of CMC- g -PA on the growth of E. coli and S. aureus was observed, attributed primarily to the antibacterial activity of the introduced phenolic hydroxyl groups. In short, bio-derived CMC- g -PA, characterized in its environmental-friendliness, antiscaling efficiency and antibacterial activity, holds immense potential for mitigating scaling and biofouling in desalination/cooling water systems. [Display omitted] • CMC- g -PA was prepared by free radical mediated grafting method. • CMC- g -PA exhibited exceptional scale inhibition properties against calcium sulfate. • CMC- g -PA showed potential to prevent biofouling from microorganisms. • Interaction of CMC- g -PA with CaSO 4 was studied through molecular dynamic simulation. [ABSTRACT FROM AUTHOR]

ABSTRACT Understanding the complex biological process of aging is of great value, especially as it can help develop therapeutics to prolong healthy life. Predicting biological age from gene expression data has shown to be an effective means to quantify aging of a subject, and to identify molecular and cellular biomarkers of aging. A typical approach for estimating biological age, adopted by almost all existing aging clocks, is to train machine learning models only on healthy subjects, but to infer on both healthy and unhealthy subjects. However, the inherent bias in this approach results in inaccurate biological age as shown in this study. Moreover, almost all existing transcriptome‐based aging clocks were built around an inefficient procedure of gene selection followed by conventional machine learning models such as elastic nets, linear discriminant analysis etc. To address these limitations, we proposed DeepQA, a unified aging clock based on mixture of experts. Unlike existing methods, DeepQA is equipped with a specially designed Hinge‐Mean‐Absolute‐Error (Hinge‐MAE) loss so that it can train on both healthy and unhealthy subjects of multiple cohorts to reduce the bias of inferring biological age of unhealthy subjects. Our experiments showed that DeepQA significantly outperformed existing methods for biological age estimation on both healthy and unhealthy subjects. In addition, our method avoids the inefficient exhaustive search of genes, and provides a novel means to identify genes activated in aging prediction, alternative to such as differential gene expression analysis. [ABSTRACT FROM AUTHOR]

Selective ablation of tumor cells allows safe eradication, thereby minimizing off-target damage, while specifically inducing immunogenic cell death (ICD) rather than commonly non-immunogenic apoptosis of tumor cells enables activation of anti-tumor immune response against residual cancer cells, including metastatic lesions. Herein, we present a general strategy leveraging a novel photothermal agent (PTA) that concomitantly enables precise tumor killing and activation of anti-tumor immunity. The unique PTA scaffold exhibits unexpected inherent endoplasmic reticulum (ER)-targeting capability and potent near-infrared (NIR) photothermal activity, inducing NIR-controlled immunogenic pyroptosis in various tumor cell lines via targeting ER stress in an oxygen-independent manner. Moreover, both ER-targeting and NIR-activity of our scaffold can be modulated on demand by chemical caging/uncaging, allowing quick activation with diverse biological and bioorthogonal molecular triggers. The potency of this universal platform is demonstrated via its application to develop a membrane protein-activatable NIR-agonist that selectively activates ICD in tumor sites while priming anti-tumor immunity, minimizing off-target effects and enhancing efficacy against mouse breast tumors. This versatile approach could lead to customization of various personalized and effective immune NIR-agonists for specific photoimmunotherapy applicable to diverse solid tumors., (© 2025 Wiley‐VCH GmbH.)

Combining piezocatalysts with mechanical ball milling for dissociating water to generate hydroxyl radicals (·OH) offers unprecedented opportunities for energy conversion and environmental remediation. However, the in-depth insights into the relationship between water and local polarization piezoelectric electric field (LPPEF) are currently lacking, in particularly, the ·OH formation mechanism in ball milling driven piezocatalyst system is not systematically elucidated. To this end, the present work constructs a ball milling driven piezoelectric solid/liquid interface between piezoelectric Pb 2 B 5 O 9 Cl (PBOC) and different contents of water to investigate LPPEF initiated catalytic reaction. Results show that PBOC exhibits an excellent Tetrabromobisphenol A (TBBPA) degradation efficiency with a 68.94 and 12.43 times faster rate constant than traditional SiO 2 and BaTiO 3 , respectively. Under ambient humidity condition, the lower energy barrier of water dissociation (0.23 eV) endows ·OH generation more energetically favorable than under the water-oversaturated condition (0.66 eV), and trace water magnifies the polarizability of [BO 3 ] and [BO 4 ] units in PBOC to initiate an enhanced LPPEF, thus it enhances the trapping of lone pairs electrons in trace adsorbed water by holes to contribute a higher yield of ·OH. This study constructs a highly correlated field-initiated electron transfer system that provides opportunities for promoting the performance of piezocatalytic materials., (© 2025 Wiley‐VCH GmbH.)

Hydrogels are flexible materials characterized by a 3D network structure, which possess high water content and adjustable physicochemical properties. They have found widespread applications in tissue engineering, electronic skin, drug delivery, flexible sensors, and photothermal therapy. However, hydrogel networks often exhibit swelling behavior in aqueous environments, which can result in structural degradation and a loss of gel performance. In this study, polyacrylic acid is utilized as the primary network structure with the incorporation of the natural polymer chitosan. Furthermore, a conductive hydrogel exhibiting good mechanical strength similar to human skin and excellent anti-swelling properties is developed by integrating phytic acid into the hydrogel network. The as-prepared hydrogels exhibited maximum swelling in pure water, achieving an equilibrium swelling rate of 15%. Additionally, a dopamine-grafted polyacrylic acid binder is synthesized through a coupling reaction to enhance the adhesion of the hydrogels to various substrates. The hydrogels demonstrated strong adhesion properties with different substrates. Whether in the air or underwater, the hydrogel sensor effectively monitors human movement behaviors. Furthermore, by utilizing the sensing signals to send Morse code, the hydrogel sensor can facilitate underwater communication. This type of hydrogel sensor is anticipated to play a significant role in wearable sensing applications and underwater communication., (© 2025 Wiley‐VCH GmbH.)