The Relationship of Parent-Child Technoference and Child Problematic Smartphone Use: The Roles of Parent-Child Relationship, Negative Parenting Styles, and Children's Gender.

Purpose: With the increasing ubiquity of smartphones in our daily lives, technoference has emerged as a novel threat to family relationships and child development. This study explored the impact of parent-child technoference on child problematic smartphone use and its underlying mechanism and potential gender difference among children. Participants and Methods: The participants were 3032 fourth-grade students (42.6% female; 80.6% one-child families; 32.9% lower income level families, 33.3% middle income level families; Mage = 10.59 years, SD=0.32) from 535 primary schools. Students in the target classes were invited to participate anonymously in the questionnaire survey in classrooms. Then, SPSS, AMOS and other software were used to analyze the data. Results: 1) Parent-child technoference, negative parenting styles and child problematic smartphone use were positively correlated with each other, while they were negatively correlated with parent-child relationship; 2) Parent-child technoference can not only directly and positively predict child problematic smartphone use, but also indirectly and positively predict child problematic smartphone use through parent-child relationship and negative parenting styles respectively; 3) Parent-child relationship and negative parenting styles play a chain mediating role between parent-child technoference and child problematic smartphone use; 4) There are significant gender differences in the chain mediation model. Conclusion: The results showed that parent-child technoference significantly affected child problematic smartphone use through a chain mediation of parent-child relationship and negative parenting styles. Gender differences were observed, with girls experiencing a more pronounced disruption in the parent-child relationship, while boys were more likely to develop problematic smartphone use. In cases of strained parent-child relationships due to technoference, girls also tended to perceive more negative parenting styles. These findings promote parents' understanding of the influencing factors and mechanisms of child problematic smartphone use, especially helpful for follow-up measures to prevent and intervene child problematic smartphone use from the perspective of families and parents.

Using machine learning methods to study the tumour microenvironment and its biomarkers in osteosarcoma metastasis.

Background: The long-term prognosis for patients with osteosarcoma (OS) metastasis remains unfavourable, highlighting the urgent need for research that explores potential biomarkers using innovative methodologies. Methods: This study explored potential biomarkers for OS metastasis by analysing data from the Cancer Genome Atlas Program (TCGA) and Gene Expression Omnibus (GEO) databases. The synthetic minority oversampling technique (SMOTE) was employed to tackle class imbalances, while genes were selected using four feature selection algorithms (Monte Carlo feature selection [MCFS], Borota, minimum-redundancy maximum-relevance [mRMR], and light gradient-boosting machine [LightGBM]) based on the gene expression matrix. Four machine learning (ML) algorithms (support vector machine [SVM], extreme gradient boosting [XGBoost], random forest [RF], and k-nearest neighbours [kNN]) were utilized to determine the optimal number of genes for building the model. Interpretable machine learning (IML) was applied to construct prediction networks, revealing potential relationships among the selected genes. Additionally, enrichment analysis, survival analysis, and immune infiltration were performed on the featured genes. Results: In DS1, DS2, and DS3, the IML algorithm identified 53, 45, and 46 features, respectively. Using the merged gene set, we obtained a total of 79 interpretable prediction rules for OS metastasis. We subsequently conducted an in-depth investigation on 39 crucial molecules associated with predicting OS metastasis, elucidating their roles within the tumour microenvironment. Importantly, we found that certain genes act as both predictors and differentially expressed genes. Finally, our study unveiled statistically significant differences in survival between the high and low expression groups of TRIP4, S100A9, SELL and SLC11A1, and there was a certain correlation between these genes and 22 various immune cells. Conclusions: The biomarkers discovered in this study hold significant implications for personalized therapies, potentially enhancing the clinical prognosis of patients with OS.

The value of speckle-tracking stratified strain combined with myocardial work measurement in evaluating left ventricular function in patients with heart failure with preserved ejection fraction.

Background: Heart failure with preserved ejection fraction (HFpEF) is a highly prevalent progressive disease accompanied by poor quality of life, high utilization of medical resources, morbidity, and mortality. However, the role of left ventricular (LV) systolic dysfunction has yet to be well elaborated despite the preservation of the LV ejection fraction. This study aimed to explore the diagnostic value of speckle-tracking stratified strain combined with myocardial work (MW) measurement in evaluating LV systolic dysfunction in patients with HFpEF. Methods: A total of 125 study consecutive individuals, 64 HFpEF patients, and 61 controls were prospectively enrolled in the Fourth Affiliated Hospital of Harbin Medical University. In addition to the conventional echocardiographic parameters, LV stratified strain and MW parameters were statistically compared between the HFpEF and control groups. The global longitudinal strain (GLS) of the subendocardium, myocardium, and subepicardium (GLSendo, GLSmyo, and GLSepi); the transmural gradient (ΔGLS); the global myocardial work index (GWI), global myocardial work efficiency (GWE), global myocardial constructive work (GCW), and the global myocardial wasted work (GWW) were included. Area under the receiver operating characteristic curve analysis was used to evaluate the diagnostic performance of these univariate and multivariable logistic models in detecting impaired LV systolic function in HFpEF. Ten-fold cross-validation was used to evaluate the generalizability of the predictive model. Results: Stratified strains values showed a gradient decline from GLSendo to GLSepi in both control and HFpEF patients. Compared with the control group, HFpEF patients had a significantly reduced GLSepi, GLSmyo, GLSendo, ΔGLS, GWI, GWE, and GCW and a significantly increased GWW (all P<0.001). In the derivation set, the optimal logistic model (combined stratified strain and MW variables) demonstrated the highest performance in predicting LV systolic function impairment in HFpEF patients. The best-performing model with a mean area under the curve (AUC) of 0.966 [95% confidence interval (CI): 0.88 to 1] accessed by 10-fold cross-validation. In the validation set, the AUC of the optimal logistic model was 0.933 (95% CI: 0.85 to 1), the sensitivity was 87%, and the specificity was 93%. Conclusions: Both speck-tracking stratified strain and MW measurement may sensitively detect impairment of LV myocardial function at an early stage for patients with HFpEF. Combining the two techniques may improve the quality of HFpEF diagnosis and may provide a reference value for the early diagnosis of HFpEF in the future.

Electrochemical Sensors Based on Self-Assembling Peptide/Carbon Nanotube Nanocomposites for Sensitive Detection of Bisphenol A.

In this study, a cationic amphiphilic self-assembling peptide (SAP) Z23 was designed, and a simple bisphenol a (BPA) sensor, based on SAP Z23/multiwalled carbon nanotubes (Z23/MWCNTs) composite, was successfully fabricated on the surface of a glassy carbon electrode (GCE). The composite material was formed by π-π stacking interaction between the aromatic group on the hydrophobic side of Z23 and the side-wall of MWCNTs, with the charged hydrophilic group of Z23 exposed. During the electrocatalytic process of BPA, a synergistic effect was observed between Z23 and MWCNTs. The current response of the sensor based on composite material was 3.24 times that of the MWCNTs-modified electrode, which was much higher than that of the peptide-based electrode. Differential pulse voltammetry (DPV) was used to optimize the experimental conditions affecting the analytical performance of the modified electrode. Under optimal conditions, the linear range of the sensor was from 10 nM to 100 µM by amperometric measurement with sensitivity and limit of detection (LOD) at 6.569 µAµM-1cm-2 and 1.28 nM (S/N = 3), respectively. Consequently, the sensor has excellent electrochemical performance and is easy to fabricate, making it a good prospect in the field of electrochemical detection in the future.

Herpes Simplex Keratitis as a Complication of Pterygium Surgery.

BACKGROUND Infectious keratitis after pterygium surgery is a rare but potentially devastating complication. The present study presents 5 cases of herpes simplex keratitis (HSK) after pterygium surgery. CASE REPORT This study was conducted in our clinic in a 5-year period from February 2017 to September 2021. The 5 patients were men, aged between 42 and 73 years, with no prior history of herpes simplex virus (HSV) infections. Symptoms appeared near 1 month (median 30 days, range 10 to 70 days) after primary pterygium surgery. Diagnosis was based on clinical symptoms and laboratory test results, such as tear HSV-sIgA, corneal tissue polymerase chain reaction, and next-generation sequencing of metagenomics. The epithelial (1/5) and stromal (4/5) subtypes of HSK were identified. The patients received topical ganciclovir gel, immunosuppressive eyedrops, and oral acyclovir tablets, along with additional surgical interventions if necessary. Three were healed with conservative therapy, 1 eye required amniotic membrane transplantation due to corneal melt, and 1 was perforated and followed by corneal grafting. Finally, a literature review of previous publications on HSK after ocular surgeries was conducted. CONCLUSIONS HSK is a rare but serious complication that can arise after uneventful pterygium surgery. It is worthy of attention that both epithelial and stromal forms can occur. Timely diagnosis and treatment are crucial to prevent unfavorable outcomes. Consequently, routine corneal fluorescein staining, tear sIgA examination, and corneal scraping for polymerase chain reaction or next-generation sequencing of metagenomics should be performed in any suspected cases.

A machine learning model identifies M3-like subtype in AML based on PML/RARα targets.

The typical genomic feature of acute myeloid leukemia (AML) M3 subtype is the fusion event of PML/RARα, and ATRA/ATO-based combination therapy is current standard treatment regimen for M3 subtype. Here, a machine-learning model based on expressions of PML/RARα targets was developed to identify M3 patients by analyzing 1228 AML patients. Our model exhibited high accuracy. To enable more non-M3 AML patients to potentially benefit from ATRA/ATO therapy, M3-like patients were further identified. We found that M3-like patients had strong GMP features, including the expression patterns of M3 subtype marker genes, the proportion of myeloid progenitor cells, and deconvolution of AML constituent cell populations. M3-like patients exhibited distinct genomic features, low immune activity and better clinical survival. The initiative identification of patients similar to M3 subtype may help to identify more patients that would benefit from ATO/ATRA treatment and deepen our understanding of the molecular mechanism of AML pathogenesis.

Causal effects of gut microbiota in the development of lung cancer and its histological subtypes: A Mendelian randomization study.

BACKGROUND: Numerous studies have characterized the gut microbiome (GM) in lung cancer (LC). Yet, the causality between GM and LC and its subtypes remain uncharacterized. METHODS: Two-sample Mendelian randomization (MR) was designed to investigate the causal relationship between the GM and LC and its subtypes, using publicly available summary data of genome-wide association studies. The researchers ran two groups of MR analyses, including the genome-wide statistical significance threshold (5 × 10-8 ) and the locus-wide significance level (1 × 10-5 ). RESULTS: Using MR analysis, we ascertained 42 groups of GM that are intimately linked to LC and its subtypes at the locus-wide significance level. Of the 42 groups, 12 were in LC, nine in non-small cell lung cancer (NSCLC), six in small cell lung cancer (SCLC), two in lung adenocarcinomas, and 13 in lung squamous carcinomas. After false discovery rate correction, we still found a remarkable causal interaction between the Eubacterium ruminantium group and SCLC. Moreover, five groups of GM closely linked to LC and its subtypes were recognised at the genome-wide statistical significance threshold. This finding included one group each in LC, NSCLC and SCLC, two groups in lung adenocarcinoma and none in lung squamous carcinoma. None of the foregoing findings were heterogeneous or horizontal pleiotropy. Reverse MR revealed that genetic susceptibility to LC and its subtypes caused significant changes in three groups of GM. CONCLUSION: Our findings substantiate the causality between GM and LC and its subtypes. This study offers fresh insights into the function of GM in mediating the progression of LC.

Mechanism of Hirudin-Mediated Inhibition of Proliferation in Ovarian Cancer Cells.

To investigate the inhibitory effect of hirudin on the cell proliferation of human ovarian cancer A2780 cells by preventing thrombin and its underlying molecular mechanism. Cell Counting Kit-8 (CCK-8) method was used to detect the effect of different concentrations of hirudin and thrombin on the cell proliferation of A2780 cells. PAR-1 wild-type overexpression plasmid was constructed utilizing enzyme digestion identification, and it was transferred to A2780 cells. Sequencing and Western blot were used to detect the changes in PAR-1 protein expression. Western blot detection of PKCα protein phosphorylation in A2780 cells was performed. We also implemented quantitative PCR to detect the mRNA expression levels of epithelial-mesenchymal transition (EMT)-related genes, CDH2, Snail, and Vimentin, in A2780 cells. 1 µg/ml hirudin treatment maximally inhibited the promotion of A2780 cell proliferation by thrombin. Hirudin inhibited the binding of thrombin to the N-terminus of PAR-1, hindered PKCα protein phosphorylation in A2780 cells, and downregulated the mRNA expression levels of CDH2, Snail, and Vimentin. In conclusion, hirudin inhibits the cell proliferation of ovarian cancer A2780 cells, and the underlying mechanism may be through downregulating the transcription level of EMT genes, CDH2, Snail, and Vimentin. This study indicates that hirudin may have a therapeutic potential as an anti-cancer agent for ovarian cancer.

Chronic Inflammation in Chronic Kidney Disease.

BACKGROUND: Chronic kidney disease (CKD) is an increasingly prevalent disease that affects approximately 10-12% of the global population. Therefore, it is considered a public health priority. Persistent and systemic low-grade chronic inflammation (CI) is an important part of the poor prognosis in CKD, especially for patients with advanced disease. For example, CI worsens anemia and promotes atherosclerosis. Therefore, CI deserves our attention. SUMMARY: The formation of CI in CKD involves many aspects. Among them, the decline in the glomerular filtration rate leads to the influence of substances or inflammatory cytokines that should be cleared in time. In addition, oxidative stress, the gut, and the gut microbiota are also influencing factors. KEY MESSAGES: In this review, we highlight the mechanisms involved in the development of CI in CKD.

Impact of Nd Doping on Electronic, Optical, and Magnetic Properties of ZnO: A GGA + U Study.

The electronic, optical, and magnetic properties of Nd-doped ZnO systems were calculated using the DFT/GGA + U method. According to the results, the Nd dopant causes lattice parameter expansion, negative formation energy, and bandgap narrowing, resulting in the formation of an N-type degenerate semiconductor. Overlapping of the generated impurity and Fermi levels results in a significant trap effect that prevents electron-hole recombination. The absorption spectrum demonstrates a redshift in the visible region, and the intensity increased, leading to enhanced photocatalytic performance. The Nd-doped ZnO system displays ferromagnetic, with FM coupling due to strong spd-f hybridization through magnetic exchange interaction between the Nd-4f state and O-2p, Zn-4s, and Zn-3p states. These findings imply that Nd-doped ZnO may be a promising material for DMS spintronic devices.

Designing advanced S-scheme CdS QDs/La-Bi2WO6 photocatalysts for efficient degradation of RhB.

Finding effective strategies to design efficient photocatalysts and decompose refractory organic compounds in wastewater is a challenging problem. Herein, by coupling element doping and constructing heterostructures, S-scheme CdS QDs/La-Bi2WO6 (CS/LBWO) photocatalysts are designed and synthesized by a simple hydrothermal method. As a result, the RhB degradation efficiency of the optimized 5% CS/LBWO reached 99% within 70 min of illumination with excellent stability and recyclability. CS/LBWO shows improvement in the adsorption range of visible light and promotes electron-hole pair generation/migration/separation, attributing the superior degradation performance. The degradation RhB mechanism is proposed by a free radical capture experiment, electron paramagnetic resonance, and high-performance liquid chromatography-mass spectrometry results, indicating that h+ and •O2 - play a significant role during four degradation processes: de-ethylation, chromophore cleavage, ring opening, and mineralization. Based on in situ irradiated X-ray photoelectron spectroscopy, Mulliken electronegativity theory, and the work function results, the S-scheme heterojunction of CS/LBWO promotes the transfer of photogenerated electron-hole pairs and promotes the generation of reactive radicals. This work not only reports that 5% CS/LBWO is a promising photocatalyst for degradation experiments but also provides an approach to design advanced photocatalysts by coupling element doping and constructing heterostructures.

Chemical composition, biological activities, and quality standards of hawthorn leaves used in traditional Chinese medicine: a comprehensive review.

Hawthorn leaves also known as crataegi foilum, are a combination of botanical drugs used commonly in Traditional Chinese Medicine. Hawthorn, the plant from which hawthorn leaves are prepared, is distributed in Northeast China, North China, and other regions in China. Hawthorn leaves are known to activate blood circulation and eliminate stasis, invigorating Qi, eliminating turbidity, and reducing the levels of lipids. So far, over a hundred compounds have been isolated from hawthorn leaves, including flavonoids, terpenoids, lignans, organic acids, and nitrogenous compounds. Hawthorn leaves are used for the treatment of hypertension, protecting against ischemic injury, angina, hyperglycemia, hyperlipidemia, and certain other conditions. Several of the currently available clinical preparations also use hawthorn leaves as raw materials, such as Yixintong capsules, Xinan capsules, etc. The present report systematically reviews the chemical composition, biological activities, and quality standards of hawthorn leaves, to provide a scientific basis and reference for detailed research on hawthorn leaves.

Open a new epoch of arsenic trioxide investigation: ATOdb.

Arsenic trioxide (ATO) is a great discovery in the treatment of acute promyelocytic leukemia (APL), which has been used in an increasing number of malignant diseases. Systematic integrative analysis will help to precisely understand the mechanism of ATO and find new combined drugs. Therefore, we developed a one-stop comprehensive database of ATO named ATOdb by manually compiling a wealth of experimentally supported ATO-related data from 3479 articles, and integrated analysis tools. The current version of ATOdb contains 8373 associations among 2300 ATO targets, 80 conditions and 262 combined drugs. Each entry in ATOdb contains detailed information on ATO targets, therapeutic/side effects, systems, cell names, cell types, regulations, detection methods, brief descriptions, references, etc. Furthermore, ATOdb also provides data visualization and analysis results such as the drug similarities, protein-protein interactions, and miRNA-mRNA relationships. An easy-to-use web interface was deployed in ATOdb for users to easily browse, search and download the data. In conclusion, ATOdb will serve as a valuable resource for in-depth study of the mechanism of ATO, discovery of new drug combination strategies, promotion of rational drug use and individualized treatments. ATOdb is freely available at http://bio-bigdata.hrbmu.edu.cn/ATOdb/index.jsp.

A global database for modeling tumor-immune cell communication.

Communications between tumor cells and surrounding immune cells help shape the tumor immunity continuum. Recent breakthroughs in high-throughput technologies as well as computational algorithms had reported many important tumor-immune cell (TIC) communications, which were scattered in thousands of published studies and impeded systematical characterization of the TIC communications across cancer. Here, a comprehensive database, TICCom, was developed to model TIC communications, containing 739 experimentally-validated or manually-curated interactions collected from more than 3,000 literatures as well as 4,537,709 predicted interactions inferred via six computational algorithms by reanalyzing 32 scRNA-seq datasets and bulk RNA-seq data across 25 cancer types. The communications between tumor cells and 14 types of immune cells were characterized, and the involved ligand-receptor interactions were further integrated. 14190 human and 3650 mouse integrated ligand-receptor interactions with supplemented corresponding function information were also stored in the TICCom database. Our database would serve as a valuable resource for investigating TIC communications.

Intragenic ß-synuclein rearrangements in malignancy.

The synuclein family, consisting of α-, ß-, and γ-synuclein, is primarily expressed in neurons. Mutations of α- and ß-synuclein have been linked to Parkinson's disease and dementia with Lewy bodies, respectively. Recent studies have shown that synucleins are upregulated in various tumors, including breast, ovarian, meningioma, and melanoma, and high synuclein expression is associated with poor prognosis and drug resistance. We report a novel rearrangement of ß-synuclein in a pediatric T-cell acute lymphoblastic leukemia (T-ALL) case, where ß-synuclein (SNCB) is fused in-frame with ETS variant transcription factor 6 (ETV6), a gene frequently rearranged in acute leukemia including acute myeloid leukemia (AML), B-cell acute lymphoblastic leukemia (B-ALL), and T-ALL. An additional case of ß-synuclein rearrangement was identified in a squamous cell carcinoma of the lung through analysis of the public TCGA database. Both rearrangements involve the C-terminal of ß-synuclein. Since ß-synuclein shares extensive amino acid similarities with α-synuclein and α-synuclein binds to 14-3-3, an important regulator of apoptosis, the rearranged ß-synuclein may contribute to tumorigenesis by deregulating apoptosis. In addition, overexpression of synucleins has been shown to increase cell proliferation, suggesting that the rearranged ß-synuclein may also deregulate the cell cycle.

Preoperative prediction of tumor deposits in rectal cancer with clinical-magnetic resonance deep learning-based radiomic models.

Background: This study aimed to establish an effective model for preoperative prediction of tumor deposits (TDs) in patients with rectal cancer (RC). Methods: In 500 patients, radiomic features were extracted from magnetic resonance imaging (MRI) using modalities such as high-resolution T2-weighted (HRT2) imaging and diffusion-weighted imaging (DWI). Machine learning (ML)-based and deep learning (DL)-based radiomic models were developed and integrated with clinical characteristics for TD prediction. The performance of the models was assessed using the area under the curve (AUC) over five-fold cross-validation. Results: A total of 564 radiomic features that quantified the intensity, shape, orientation, and texture of the tumor were extracted for each patient. The HRT2-ML, DWI-ML, Merged-ML, HRT2-DL, DWI-DL, and Merged-DL models demonstrated AUCs of 0.62 ± 0.02, 0.64 ± 0.08, 0.69 ± 0.04, 0.57 ± 0.06, 0.68 ± 0.03, and 0.59 ± 0.04, respectively. The clinical-ML, clinical-HRT2-ML, clinical-DWI-ML, clinical-Merged-ML, clinical-DL, clinical-HRT2-DL, clinical-DWI-DL, and clinical-Merged-DL models demonstrated AUCs of 0.81 ± 0.06, 0.79 ± 0.02, 0.81 ± 0.02, 0.83 ± 0.01, 0.81 ± 0.04, 0.83 ± 0.04, 0.90 ± 0.04, and 0.83 ± 0.05, respectively. The clinical-DWI-DL model achieved the best predictive performance (accuracy 0.84 ± 0.05, sensitivity 0.94 ± 0. 13, specificity 0.79 ± 0.04). Conclusions: A comprehensive model combining MRI radiomic features and clinical characteristics achieved promising performance in TD prediction for RC patients. This approach has the potential to assist clinicians in preoperative stage evaluation and personalized treatment of RC patients.

Spatial transcriptome analysis of long non-coding RNAs reveals tissue specificity and functional roles in cancer.

Long non-coding RNAs (lncRNAs) play a significant role in maintaining tissue morphology and functions, and their precise regulatory effectiveness is closely related to expression patterns. However, the spatial expression patterns of lncRNAs in humans are poorly characterized. Here, we constructed five comprehensive transcriptomic atlases of human lncRNAs covering thousands of major tissue samples in normal and disease states. The lncRNA transcriptomes exhibited high consistency within the same tissues across resources, and even higher complexity in specialized tissues. Tissue-elevated (TE) lncRNAs were identified in each resource and robust TE lncRNAs were refined by integrative analysis. We detected 1 to 4684 robust TE lncRNAs across tissues; the highest number was in testis tissue, followed by brain tissue. Functional analyses of TE lncRNAs indicated important roles in corresponding tissue-related pathways. Moreover, we found that the expression features of robust TE lncRNAs made them be effective biomarkers to distinguish tissues; TE lncRNAs also tended to be associated with cancer, and exhibited differential expression or were correlated with patient survival. In summary, spatial classification of lncRNAs is the starting point for elucidating the function of lncRNAs in both maintenance of tissue morphology and progress of tissue-constricted diseases.

Screening of candidate genes at GLC3B and GLC3C loci in Chinese primary congenital glaucoma patients with targeted next generation sequencing.

BACKGROUND: Primary congenital glaucoma (PCG) is characterized by developmental abnormalities of the anterior chamber angle. Although several genes have been associated with PCG, pathogenic mutations could only be detected in about 20% of Chinese patients. GLC3B (1p36.2-36.1) and GLC3C (14q24.3) loci were previously identified in PCG pedigrees via linkage analysis. However, no causative genes were reported in these loci. This study was designed to search for novel PCG-related genes in these genetic regions. MATERIALS AND METHODS: DNA samples from 100 PCG patients and 200 normal controls were pooled and sequenced using a customized panel of 133 positional candidate genes located around GLC3B and GLC3C loci (±1Mb). PCG-related genes were prioritized by the distribution of variants between patients and controls. Confirmation of selected variants and co-segregation analysis were performed using Sanger sequencing. RESULTS: Patient and control group contained 116 and 147 rare variants respectively after screening. Three genes (ZC2HC1C, VPS13D, and PGF) were prioritized according to the distribution of variants between the two groups. Rare variants of PGF were only identified in PCG patients. CONCLUSIONS: To the best of our knowledge, this is the first study aiming at exploring novel PCG-related genes at GLC3B and GLC3C loci. Our preliminary results suggest that there are potential associations between ZC2HC1C, VPS13D, PGF, and PCG. However, larger cohort studies and functional assays are required to provide further evidence for the proposed genotype-phenotype association.

The alterations of corneal biomechanics in adult patients with corneal dystrophy.

PURPOSE: To evaluate the changes of corneal biomechanics in granular, lattice and macular corneal dystrophy (GCD, LCD and MCD), and to assess the agreement of intraocular pressure (IOP) between Corvis ST tonometer (CST) and Goldmann applanation tonometer (GAT) and the agreement of central corneal thickness (CCT) between CST and ultrasound pachymeter (USP) in patients with corneal dystrophy. METHODS: Fifty-nine eyes with corneal dystrophy (26 eyes with GCD, 18 eyes with LCD and 15 eyes with MCD) and 48 eyes from healthy subjects were included in this study. All subjects received ocular examination and anterior segment photography under slit-lamp microscope. Corneal biomechanical parameters were obtained using CST. IOP and CCT were obtained using GAT and USP, respectively. Mixed-effects models were fitted for group comparisons and Bland-Altman analyses were applied for assessing the agreement of IOP or CCT between devices. RESULTS: GCD, LCD and MCD showed higher First Applanation Deformation Amplitude (A1DA) and Corvis Biomechanical Index (CBI), and a lower Stiffness Parameter at First Applanation (SPA1), compared to controls. After CCT adjustment, MCD group showed a higher A1DA compared to GCD or LCD. The IOP measured by CST demonstrated an overestimated bias to the one obtained by GAT in all groups. The CCT measured by CST and USP showed good agreement in healthy eyes but not in those with corneal dystrophy. CONCLUSION: Corneal biomechanical alterations were observed in GCD, LCD and MCD. IOP and CCT measured by CST should be interpreted carefully in eyes with corneal dystrophy.