Machine learning analysis with the comprehensive index of corneal tomographic and biomechanical parameters in detecting pediatric subclinical keratoconus.

Background: Keratoconus (KC) occurs at puberty but diagnosis is focused on adults. The early diagnosis of pediatric KC can prevent its progression and improve the quality of life of patients. This study aimed to evaluate the ability of corneal tomographic and biomechanical variables through machine learning analysis to detect subclinical keratoconus (SKC) in a pediatric population. Methods: Fifty-two KC, 52 SKC, and 52 control pediatric eyes matched by age and gender were recruited in a case-control study. The corneal tomographic and biomechanical parameters were measured by professionals. A linear mixed-effects test was used to compare the differences among the three groups and a least significant difference analysis was used to conduct pairwise comparisons. The receiver operating characteristic (ROC) curve and the Delong test were used to evaluate diagnostic ability. Variables were used in a multivariate logistic regression in the machine learning analysis, using a stepwise variable selection to decrease overfitting, and comprehensive indices for detecting pediatric SKC eyes were produced in each step. Results: PE, BAD-D, and TBI had the highest area under the curve (AUC) values in identifying pediatric KC eyes, and the corresponding cutoff values were 12 µm, 2.48, and 0.6, respectively. For discriminating SKC eyes, the highest AUC (95% CI) was found in SP A1 with a value of 0.84 (0.765, 0.915), and BAD-D was the best parameter among the corneal tomographic parameters with an AUC (95% CI) value of 0.817 (0.729, 0.886). Three models were generated in the machine learning analysis, and Model 3 (y = 0.400*PE + 1.982* DA ratio max [2 mm]-0.072 * SP A1-3.245) had the highest AUC (95% CI) value, with 90.4% sensitivity and 76.9% specificity, and the cutoff value providing the best Youden index was 0.19. Conclusion: The criteria of parameters for diagnosing pediatric KC and SKC eyes were inconsistent with the adult population. Combined corneal tomographic and biomechanical parameters could enhance the early diagnosis of young patients and improve the inadequate representation of pediatric KC research.

Application of the 'online assessment + FOBT at home' to improve participation and the efficacy of opportunistic screening for colorectal cancer: a retrospective cohort study.

BACKGROUND: Colorectal cancer (CRC) screening faces two major challenges: insufficient screening coverage and poor adherence. A smartphone applet named "Early Screening Assistant (ESA)" was developed to create an online risk-assessment and fecal occult blood test (FOBT) at home. This retrospective study was designed to evaluate whether the new CRC screening strategy can improve the colonoscopy participation rate (PR) and lesion detection rate (DR). METHODS: In total, 6194 individuals who accepted normal health examinations and CRC screening based on the ESA from June 2020 to May 2022 were assigned to the ESA group. Accordingly, 7923 inhabitants who only accepted normal health examinations were assigned to the control group. The colonoscopy PR and neoplastic lesion DR were then compared between the two groups. RESULTS: Overall, a higher proportion of subjects in the ESA group (285 of 6194 [4.6%]) completed colonoscopy than in the control group (126 of 7923, [1.6%]), p < 0.01). The neoplastic lesion DR also significantly increased in the ESA group (76 of 6194 [1.22%]) compared with the control group (15 of 7923 [0.19%]) (p < 0.01). The adjusted diagnostic sensitivity and specificity of the "Online assessment + FOBT at home" were 41.5% and 62.6% for neoplastic lesions, respectively. CONCLUSIONS: This retrospective cohort study confirmed that the new CRC screening strategy based on the "Online assessment + FOBT at home" can improve colonoscopy participation and the neoplastic lesion detection rate and may represent a promising screening strategy for CRC. TRIAL REGISTRATION: This study was registered in China Clinical Trial Registry ( https://www.chictr.org.cn ) on 29/09/2022. REGISTRATION NUMBER: ChiCTR2200064186.

A high body mass index strengthens the association between the time of eye rubbing and keratoconus in a Chinese population: a case control study.

BACKGROUND: Although body mass index (BMI) and eye rubbing are linked to an increased risk of keratoconus (KC), the interactive effect of eye rubbing and BMI on KC is largely unknown. This study aimed to evaluate the independent and interactive effects of BMI and eye rubbing on KC and to further explore the role of environmental factors on the occurrence of KC. METHODS: A total of 621 individuals (291 KC patients and 330 control individuals) were enrolled in this hospital­based study on KC patients in Central China after individuals missing BMI data were excluded. BMI was calculated as weight in kilograms divided by the square of height in meters. Data on eye rubbing was recorded through face-to-face interviews. Generalized linear regression models were used to analyze associations among BMI, eye rubbing and KC. Interaction plots were used to describe the interactive effects of BMI and eye rubbing on KC. RESULTS: The ß and 95% confidence interval (CI) were 0.923 (0.112, 1.733) (p = 0.026) and 3.356 (1.953, 4.759) (p < 0.001), respectively, for the effect of each 10 kg/m2 increase in BMI and each 1 min increase in eye rubbing on KC. The interaction of BMI and eye rubbing were positively correlated with KC (p < 0.001). CONCLUSION: These findings suggested that a high BMI aggravated the negative effect of eye rubbing on KC, implying that individuals with a high BMI may be more susceptible to exposure to eye rubbing, which is related to an increased risk of KC.

PPP/INS Tight Integration with BDS-3 PPP-B2b Service in the Urban Environment.

To provide continuous and reliable real-time precise positioning services in challenging environments and poor internet conditions, the real-time precise corrections of the BeiDou global navigation satellite system (BDS-3) PPP-B2b signal are utilized to correct the satellite orbit errors and clock offsets. In addition to this, using the complementary characteristics of the inertial navigation system (INS) and the global navigation satellite system (GNSS), a PPP-B2b/INS tight integration model is established. With observation data collected in an urban environment, the results show that PPP-B2b/INS tight integration can ensure a decimeter-level positioning accuracy; the positioning accuracies of the E, N, and U components are 0.292, 0.115, and 0.155 m, respectively, which can provide a continuous and secure position during short interruptions in the GNSS. However, there is still a gap of about 1 dm compared with the three-dimensional (3D) positioning accuracy obtained from Deutsche GeoForschungsZentrum (GFZ) real-time products, and a gap of about 2 dm compared with the GFZ post-precise products. Using a tactical inertial measurement unit (IMU), the velocimetry accuracies of the tightly integrated PPP-B2b/INS in the E, N, and U components are all about 0.3 cm/s, and the attitude accuracy of yaw is about 0.1 deg, while the pitch and roll show a superior performance of less than 0.01 deg. The accuracies of the velocity and attitude mainly depend on the performance of the IMU in the tight integration mode, and there is no significant difference between using real-time products and post products. The performance of the microelectromechanical system (MEMS) IMU and tactical IMU is also compared, and the positioning, velocimetry, and attitude determinations with the MEMS IMU are significantly worsened.

A Novel Deep Learning Approach to 5G CSI/Geomagnetism/VIO Fused Indoor Localization.

For positioning tasks of mobile robots in indoor environments, the emerging positioning technique based on visual inertial odometry (VIO) is heavily influenced by light and suffers from cumulative errors, which cannot meet the requirements of long-term navigation and positioning. In contrast, positioning techniques that rely on indoor signal sources such as 5G and geomagnetism can provide drift-free global positioning results, but their overall positioning accuracy is low. In order to obtain higher precision and more reliable positioning, this paper proposes a fused 5G/geomagnetism/VIO indoor localization method. Firstly, the error back propagation neural network (BPNN) model is used to fuse 5G and geomagnetic signals to obtain more reliable global positioning results; secondly, the conversion relationship from VIO local positioning results to the global coordinate system is established through the least squares principle; and finally, a fused 5G/geomagnetism/VIO localization system based on the error state extended Kalman filter (ES-EKF) is constructed. The experimental results show that the 5G/geomagnetism fusion localization method overcomes the problem of low accuracy of single sensor localization and can provide more accurate global localization results. Additionally, after fusing the local and global positioning results, the average positioning error of the mobile robot in the two scenarios is 0.61 m and 0.72 m. Compared with the VINS-mono algorithm, our approach improves the average positioning accuracy in indoor environments by 69.0% and 67.2%, respectively.

Trends in research on corneal cross linking from 2001 to 2020: a bibliometric analysis.

CLINICAL RELEVANCE: The research status and hotspots in the field of corneal cross linking (CXL) can benefit clinicians, researchers and the general public. BACKGROUND: The purpose of this study was to map the publishing trend on CXL research and explore the research hotspots. METHODS: A bibliometric analysis was performed using the Web of Science Core Collection to investigate the publishing trend on CXL research. VOSviewer was used to build the knowledge map to visualise the number of annual publications, distribution of countries and institutions, international cooperation, author productivity, source journals and research hotspots in the field of CXL. RESULTS: A total of 2061 peer-reviewed articles on CXL research were collected from 2001 to 2020, and the annual research production increased over time. The United States was the country with the largest number of published articles, and the University of Zurich was the most active institution. Hafezi F published the largest number of articles on CXL, while Cornea was the journal with the largest number of studies on CXL. The most frequently cited references mainly focus on CXL in the treatment of keratoconus. The keywords were divided in 5 categories: 1) CXL mechanism, 2) ectasia diseases and refractive surgery, 3) corneal biomechanics, 4) efficacy evaluation, 5) treatment of infectious keratitis. CONCLUSION: The quantity and quality of articles on CXL were evaluated using bibliometric techniques by extracting the data from the Web of Science Core Collection. The research hotspots could provide insights on CXL research, providing valuable information for clinicians to perform research in this field and find potential partners.

Independent and interactive effects of eye rubbing and atopy on keratoconus.

Purpose: To evaluate the independent and interactive effects of eye rubbing and atopy on keratoconus (KC) in central China. Methods: A total of 330 KC patients and 330 controls were recruited in the case-control study. Eye rubbing and history of atopy were recorded through face-to-face interviews. The association between KC and eye rubbing, atopy, interactive effects of eye rubbing and atopy were analyzed by logistic regression, and the odds ratios (OR), relative excess risk due to interaction (RERI), attributable proportion (AP), synergy (S) index, and 95% confidence intervals (95% CI) were calculated. Results: A total of 228 patients (69.09%) had an eye rubbing history, and 53 (16.06%) had an atopy history in the KC group, which were both higher than that in the control group (p<0.001). Eye rubbing and atopy were positively associated with KC in multivariate analysis, with ORs (95% CIs) of 15.11 (10.02, 22.80) and 5.30 (2.59, 10.84), respectively. Compared to non-eye rubbing and non-atopy eyes, the risk for eye rubbing coexisted with atopy was 52.31 (12.25, 223.35). No significant associations were found between KC and multiplicative interaction (p=0.608). The RERI, AP, and S values were 32.89 (-43.35, 109.14), 0.63 (0.05, 1.21), and 2.79 (0.56, 13.96), respectively, with no significant association between additive interaction and KC. No significant associations were found between eye rubbing, atopy and the severity of KC (p>0.05). Conclusion: Eye rubbing and atopy were separately positively associated with KC, and there was a strong impact of coexistent eye rubbing and atopy on KC in China. Further multi-center and cohort study need to be conducted to explore the role of eye rubbing and atopy in the occurrence and development of KC.

Family-based exome sequencing identifies candidate genes related to keratoconus in Chinese families.

Background: Keratoconus (KC) is a complex corneal disorder with a strong genetic component. The present study aimed to identify candidate genes related to KC in Chinese families. Methods: Family-based exome sequencing was performed in ten patients suffering from KC who belong to five families with two affected members in each. The candidate rare variants were identified with multi-step bioinformatics analysis. The STRING website was used to perform the protein interaction of the identified genes. Results: Our analyses identified 32 candidate rare variants in 13 genes by family-based exome sequencing. The molecular analyses of identified genes showed that EPCAM directly interacted with CTNNB1 of the Hippo signaling pathway and focal adhesion pathway, and directly interacted with CTNNB1, CDH1 of the WNT signaling pathway. SHROOM3 directly interacted with ROCK2, ROCK1 of the focal adhesion pathway. SYNE1 directly interacted with MUSK of the extracellular matrix organization pathway. TEK directly interacted with VEGFA, SHC1, PIK3R1, GRB2 of the focal adhesion pathway. TTN directly interacted with CAPN3 of the extracellular matrix organization pathway. Conclusion: The EPCAM, SHROOM3, SYNE1, TEK, and TTN genes were potential high-risk candidate pathogenic genes of familial KC. The findings might significantly improve our understanding of the genetic etiology of the disease, providing novel insights on KC pathogenesis.

Heritability of Corneal Parameters in Nuclear Families With Keratoconus.

Purpose: This study aimed to investigate the heritability of corneal parameters obtained by Pentacam in nuclear families with keratoconus (KC). Methods: A total of 82 patients with KC and their biological parents (n = 164) were recruited in the current study. All subjects underwent corneal tomography with Pentacam. Family units were analyzed to calculate the heritability of corneal parameters by linear mixed effects model using the R statistical software. Results: The pachymetry at apex, pupil, and thinnest point were all significantly heritable at 43.26%, 42.63%, and 43.09%, respectively. The heritability of flat meridian keratometry, steep meridian keratometry, and mean keratometry in the anterior surface were 10.36%, 9.05%, and 10.21%, respectively, and that of flat meridian keratometry, steep meridian keratometry, and mean keratometry in the posterior surface were 8.44%, 9.67%, and 9.06%, respectively. The posterior radius of curvature had higher heritability in comparison with anterior radius of curvature (19.16% vs. 14.37%). Moreover, among combined topometric indices, the heritability of index of vertical asymmetry was the highest (19.49%), and that of central keratoconus index was the lowest (6.64%). Conclusions: The present study demonstrated a substantial heritability of corneal parameters in nuclear families with KC. The pachymetric indices are heritable and may be suitable as KC endophenotypes, suggesting a necessity to discover the genes associated with corneal thickness in KC. Translational Relevance: The pachymetric indices are heritable and may be suitable as KC endophenotypes, indicating that the pachymetric indices might be a corneal characteristic to predict the occurrence of KC.

A Hospital-Based Study on the Prevalence of Keratoconus in First-Degree Relatives of Patients with Keratoconus in Central China.

Purpose: The present study investigated the prevalence of keratoconus (KC) among first-degree relatives of KC patients in Central China. Methods: From July 2018 to March 2022, 661 first-degree relatives of 384 KC patients were included in the present study. Corneal tomography, uncorrected distance visual acuity, manifest refraction with corrected distance visual acuity, intraocular pressure, slit-lamp microscopy, and fundus examination were performed. The diagnosis of KC was based on the Belin/Ambrosio enhanced ectasia total deviation value (BAD-D value) on the Pentacam® system (Oculus GmbH). BAD-D value <1.6 was diagnosed as healthy, 1.6≤ BAD-D value <2.6 was diagnosed as suspected KC, and BAD-D value ≥2.6 was diagnosed as KC. Results: The present study included 337 (50.98%) female and 324 (49.02%) male subjects. The prevalence of KC and suspected KC in first-degree relatives was 8.77% (n = 58) and 29.05% (n = 192), respectively. The prevalence of KC was 9.70% among parents and 7.23% among siblings. Conclusions: The higher prevalence of KC among first-degree relatives of patients with KC suggests that first-degree relatives of KC are at high risk of developing KC.

Waste Silicone Rubber in Three-Dimensional Conductive Networks as a Temperature and Movement Sensor.

Constructing a three-dimensional (3D) conductive network in a polymer matrix is a common method for preparing flexible sensors. However, the previously reported methods for constructing a 3D conductive network generally have shortcomings such as uncontrollable processes and insufficient network continuity, which limit the practical application of this method. In this work, we report a method for constructing a dual 3D conductive network. The carbon nanotube/graphene oxide co-continuous network (primary network) was introduced on the surface of the waste silicone rubber particles (WSRPs) through the adhesion of polydopamine (PDA), and then WSRPs were bonded into a porous skeleton using nanocellulose. The carbon fiber/carbon ball interconnection network (secondary network) was constructed in liquid silicone rubber (LSR) through the interaction of host-guest dendrimers and was filled into the WSRP skeleton. The dual 3D conductive network structure endowed the sensor with high electrical and thermal conductivity, outstanding stability, and excellent durability. In addition, the sensor showed high strain sensitivity and excellent stability when detecting human body temperature and motion behavior, and the pressure distribution can be spatially mapped through the sensor matrix. These demonstrations give our sensor high potential in the fields of smart devices, body monitoring, and human-machine interfaces.

A Bibliometric Analysis of 100 Most-Cited Articles on Corneal Cross-Linking.

Background: Highly cited papers are expected to have high-quality data that significantly contribute to the body of knowledge. The study aimed to evaluate the characters of the 100 most-cited articles on corneal cross-linking (CXL) through a bibliometric analysis. Materials and Methods: The Web of Science database was searched to identify papers published from 1950 to 2020. A bibliometric analysis of the top 100-cited articles was conducted in the current study. The citation differences between basic research, clinical research, and reviews were compared by Kruskal-Wallis test. The association between citations and publication year was evaluated by Spearman correlation analysis. The VOSviewer software was used to create networks of co-authorship and keywords map. Results: The median values of the number of citations, citations/year since publication, and citations since 2013 were 101, 9.5, and 11.92, respectively. A total of 61% of articles were clinical research. The citations since 2013 of clinical research were lower than basic research and the reviews (all p < 0.001). The publication year was positively correlated with the number of publications (r = 0.665, p = 0.013), and the total number of citations decreased for basic research (r = -0.447, p = 0.017), and clinical research (r = -0.433, p < 0.001). The J REFRACT SURG publishes the highest number of articles. The corresponding authors were predominantly from the Italy (N = 17), Germany (N = 16), and United States (N = 15). Spoerl Eberhard has the highest number of citations and total link strength with 15 articles. Extensive collaboration existed among the main core nodes containing "cross-linking (N = 45)," "riboflavin (N = 44)," and "ultraviolet A (UVA) (N = 42)." Conclusion: The present study focused on the comprehensive analysis of the top 100-cited articles on the CXL research, providing insight into research developments over the past decades.

Advances in the identification of long non-coding RNA binding proteins.

Long non-coding RNAs (lncRNAs) are transcripts longer than 200 nt without evident protein coding function. They play important regulatory roles in many biological processes, e.g., gene regulation, chromatin remodeling, and cell fate determination during development. Dysregulation of lncRNAs has been observed in various diseases including cancer. Interacting with proteins is a crucial way for lncRNAs to play their biological roles. Therefore, the characterization of lncRNA binding proteins is important to understand their functions and to delineate the underlying molecular mechanism. Large-scale studies based on mass spectrometry have characterized over a thousand new RNA binding proteins without known RNA-binding domains, thus revealing the complexity and diversity of RNA-protein interactions. In addition, several methods have been developed to identify the binding proteins for particular RNAs of interest. Here we review the progress of the RNA-centric methods for the identification of RNA-protein interactions, focusing on the studies involving lncRNAs, and discuss their strengths and limitations.

A Distance Increment Smoothing Method and Its Application on the Detection of NLOS in the Cooperative Positioning.

The wide use of cooperative missions using multiple unmanned platforms has made relative distance information an essential factor for cooperative positioning and formation control. Reducing the range error effectively in real time has become the main technical challenge. We present a new method to deal with ranging errors based on the distance increment (DI). The DI calculated by dead reckoning is used to smooth the DI obtained by the cooperative positioning, and the smoothed DI is then used to detect and estimate the non-line-of-sight (NLOS) error as well as to smooth the observed values containing random noise in the filtering process. Simulation and experimental results show that the relative accuracy of NLOS estimation is 8.17%, with the maximum random error reduced by 40.27%. The algorithm weakens the influence of NLOS and random errors on the measurement distance, thus improving the relative distance precision and enhancing the stability and reliability of cooperative positioning.

Whole mitochondrial genome analysis in Chinese patients with keratoconus.

Purpose: Keratoconus (KC) is a corneal disorder characterized by corneal ectasia, progressive corneal thinning, and conical protrusion. This study aimed to elucidate the mitochondrial gene profile in Chinese patients with KC, analyze the mitochondrial haplogroup and heteroplasmy, and further explore the association between mitochondrial genes and KC. Methods: Mitochondrial sequencing was conducted on 100 patients with KC and 100 matched controls. Haplogroup analysis was conducted with logistic regression analysis. The heteroplasmy was analyzed with ANOVA (ANOVA) and Student t test. Sequence kernel association tests (SKATs) were performed to analyze the association between mitochondrial genes and KC. Mtoolbox, Mitoclass.1, and APOGEE were used to estimate the impact of the identified variants in protein-coding genes. PON-mt-tRNA was used to annotate the impact of the variants in tRNA. RNAstructure was used to predict the secondary structures of native and mutated tRNAs. Results: We identified 689 variants in patients with KC and 725 variants in controls (with 308 variants shared by both). The mitochondrial haplogroups exhibited no statistically significant differences between the two groups. Based on the heteroplasmy analysis, the number of heteroplasmic variants in the complete mitochondrial genome, RNA coding regions, and noncoding regions were statistically significantly different in the KC cases and controls (p<0.05). The heteroplasmic levels of the m.16180_16182delAA, m.16182insC, and m.14569 G>C variants in the KC cases were statistically significantly higher than those in the controls (p<0.05). The SKAT analysis showed that the COX3 and TRNH genes were statistically significantly associated with KC (p<0.05). Among the nine variants of COX3 included in the SKAT analysis (m.9300G>A, m.9316T>C, m.9327A>G, m.9355A>G, m.9468A>G, m.9612G>A, m.9804G>A, m.9957G>A, and m.9966 G>A), m.9612G>A was predicted to be deleterious by Mtoolbox. The m.9316T>C, m.9327A>G, m.9355A>G, m.9612G>A, m.9804G>A, and m.9957G>A variants were predicted to be damaging by Mitoclass.1. The m.9355A>G and m.9804G>A variants were predicted to be pathogenic by APOGEE. All identified variants located in TRNH (m.12153C>T, m.12178C>T, and m.12192G>A) were predicted to be neutral by the PON-mt-tRNA website. Conclusions: This study presents the mitochondrial gene profile of Chinese patients with KC and demonstrated that the COX3 and TRNH genes were associated with KC.

Characterization of RNA-binding proteins in the cell nucleus and cytoplasm.

As critical players in the regulation of gene expression, RNA-binding proteins (RBPs) play fundamental roles in cellular functions and diseases. In this study, we established an analytical strategy to characterize RBPs from different subcellular regions by combining subcellular fractionation, acidic guanidinium-thiocyanate-phenol-chloroform biphasic extraction, and quantitative mass spectrometry. Using this method, we identified 1775 and 2245 RBPs from the cell nucleus and cytoplasm. The data confirmed a large spectrum of known RBPs, revealed 614 novel ones that have never been reported before, and cataloged their subcellular localizations. Intriguingly, 200 metabolic enzymes from diverse metabolic pathways were observed as RBPs, some of which were further validated through western blotting following UV-mediated crosslinking and biphasic extraction. Furthermore, we characterized 2157 RNA-binding interfaces, providing structural information regarding the complex nature of RNA-protein interactions. Taken together, our data greatly expand the current reservoir of known RBPs and highlight the potential role of RNA-binding in the regulation of cellular metabolism.

A hospital-based study on clinical data, demographic data and visual function of keratoconus patients in Central China.

China is a populous country but lacks epidemiological data on keratoconus (KC). The present study aimed to investigate the clinical data, demographic data, and visual function (VF) data of KC patients in Central China. A total of 524 KC eyes in 307 KC patients (217 bilateral and 90 unilateral) from Henan Eye Hospital were included in the current study. Demographic and VF data were assessed with questionnaires administered by well-trained staff during face-to-face interviews. Visual acuity value was examined by a qualified optometrist, and the clinical data were measured by professional clinicians. The distributions of sex, residence and education level of KC patients were compared by Chi-square tests, and the ratios of people wearing glasses and rigid gas permeable (RGP) lenses were compared by McNemar tests. General linear models/Chi-squared tests were used to compare the clinical and demographic data according to KC severity. Spearman's correlation analysis was used to test the associations between the data and KC severity. The mean age at diagnosis was 20.98 ± 6.06 years, and males had a higher ratio of KC than females (P < 0.001). Patients in rural areas had a higher rate of KC than those in urban areas (P = 0.039), and the proportion of KC patients with a higher education level (above high school) was high (P < 0.001). A total of 68.40% of the patients reported eye rubbing and 3.52% had a positive family history. The percentage of people wearing glasses was higher than that of patients wearing RGP lenses (P < 0.001). The total VF score of KC patients was 69.35 ± 15.25. The thinnest corneal thickness (TCT) and stiffness parameter at the first applanation (SP-A1) values were inversely correlated with KC severity (P < 0.05). The mean, steep, and max keratometry (Km, Ks and Kmax) values, the RGP lens use and keratoplasty were positively correlated with KC severity (all P < 0.05). The total VF score of the eye with better VA decreased as the severity increased (r = - 0.21, P = 0.002). The present study comprehensively describes various associated features of KC patients from a tertiary hospital in Central China, providing a reference for understanding the characteristics of KC patients in China.

Novel homozygous mutation of plasminogen in ligneous conjunctivitis: a case report and literature review.

Background:Ligneous conjunctivitis (LC) is a rare disease characterized by the development of a wood-like pseudomembrane on the tarsal conjunctiva secondary to type I plasminogen deficiency. Here we reported on a Chinese patient with LC in a consanguineous family and performed a literature review of all reported mutations for this disease. Methods: A 13-month-old girl diagnosed with LC and her parents were included in this study. Hematoxylin and eosin staining was used to perform histopathology examination. The plasminogen activity was determined by chromogenic assay. Sanger sequencing was performed to screen the mutation site for the disease. In silico analysis was applied to predict the pathogenesis of the identified mutation. In addition, we reviewed the literatures on PLG mutations of LC. Results: Histopathology examination revealed the infiltration of inflammatory cells on membranous lesions. Plasma plasminogen activity was severely decreased in the patient and moderately decreased in her parents (patient: plasminogen activity, 2.50%; father: plasminogen activity, 41.02%; mother: plasminogen activity, 54.07%). Co-segregation analysis indicated that the patient was homozygous for the c.763 G > A (p.Glu255Lys) mutation in plasminogen gene (PLG). Bioinformatics analysis strongly suggested that the mutation was damaging for the disease. The model analysis indicated the mutation might cause abnormal spatial structure and low stability, thus affecting functional activity. A literature review of the LC mutations indicated a strong genetic heterogeneity of the disease. Conclusions: LC exhibited strong genetic heterogeneity, and our study identified a novel homozygous missense mutation of plasminogen (c.763 G > A, p.Glu255Lys) in one Chinese patient with LC.

Assessment of Visual Quality in Eyes with Forme Fruste Keratoconus and Mild and Moderate Keratoconus Based on Optical Quality Analysis System II Parameters.

PURPOSE: The study aimed to evaluate the visual quality of forme fruste keratoconus (FFK) and mild and moderate keratoconus by using an optical quality analysis system II (OQAS-II) and to explore the correlation between optical quality parameters and the disease progression. METHODS: Twenty-one normal eyes, twenty-one FFK eyes, twenty-one mild keratoconus eyes, and twenty-one moderate keratoconus eyes were included in this prospective study. The optical quality parameters, such as object scatter index (OSI), modulation transfer function cutoff (MTF cutoff), strehl ratio (SR), and OQAS-II values at contrasts of 100% (OV-100), 20% (OV-20), and 9% (OV-9), were measured by OQAS-II. The repeatability of these parameters was analyzed by intraclass correlation coefficient (ICC), repeatability coefficient (RC), and coefficient of variation (CVw). Correlations between optical quality parameters and mean central keratometry readings (K mean) were evaluated. The sensitivity and specificity of the parameters were analyzed using the receiver operating characteristic (ROC). RESULTS: All the optical quality parameters among four groups showed good repeatability (all ICC≥0.75). The MTF cutoff, SR, OV-100, OV-20, OV-9 in FFK, mild and moderate keratoconus eyes were significantly lower than those in the normal group (all P < 0.05). The ROC analyses of the MTF cutoff, SR, OV-100, OV-20, and OV-9 showed significant area under the curve (AUC) in discriminating FFK form normal, mild keratoconus from FFK, and moderate keratoconus from mild keratoconus (all P < 0.05). The ROC analyses of the MTF cutoff, SR, OV-100, OV-20, and OV-9 showed significant area under the curve (AUC) in discriminating FFK form normal, mild keratoconus from FFK, and moderate keratoconus from mild keratoconus (all P < 0.05). The ROC analyses of the MTF cutoff, SR, OV-100, OV-20, and OV-9 showed significant area under the curve (AUC) in discriminating FFK form normal, mild keratoconus from FFK, and moderate keratoconus from mild keratoconus (all P < 0.05). The ROC analyses of the MTF cutoff, SR, OV-100, OV-20, and OV-9 showed significant area under the curve (AUC) in discriminating FFK form normal, mild keratoconus from FFK, and moderate keratoconus from mild keratoconus (all P < 0.05). The ROC analyses of the MTF cutoff, SR, OV-100, OV-20, and OV-9 showed significant area under the curve (AUC) in discriminating FFK form normal, mild keratoconus from FFK, and moderate keratoconus from mild keratoconus (all K mean) were evaluated. The sensitivity and specificity of the parameters were analyzed using the receiver operating characteristic (ROC). r = -0.710, P < 0.05). The ROC analyses of the MTF cutoff, SR, OV-100, OV-20, and OV-9 showed significant area under the curve (AUC) in discriminating FFK form normal, mild keratoconus from FFK, and moderate keratoconus from mild keratoconus (all. CONCLUSION: The repeatability of OQAS-II is good in measuring visual quality of normal as well as FFK, mild, and moderate keratoconus. The visual quality of the FFK, mild, and moderate keratoconus is worse than that in normal eyes. The OQAS-II has the potential value in screening FFK from normal eyes and might be a useful tool for evaluating the progression of keratoconus.

Evaluation of new Corvis ST parameters in normal, Post-LASIK, Post-LASIK keratectasia and keratoconus eyes.

The aim of this study was to evaluate the distribution of new Corneal Visualisation Scheimpflug Technology (Corvis ST) parameters in normal, Post-laser in situ keratomileusis (LASIK), Post-LASIK keratectasia (KE) and keratoconus (KC) eyes, and explore the diagnostic ability of these parameters in distinguishing KE from LASIK eyes. Twenty-three normal eyes, 23 LASIK eyes, 23 KE eyes and 23 KC eyes were recruited in this study. The following new Corvis ST parameters were measured: Max Inverse Radius, deformation amplitude (DA) Ratio Max [2 mm], Pachy Slope, DA Ratio Max [1 mm], Ambrosio's relational thickness horizontal (ARTh), Integrated Radius, stiffness parameter at first applanation (SP-A1) and Corvis biomechanical index (CBI). The general linear model, linear regression model, relation analysis and receiver operating characteristic (ROC) curve were performed. The Max Inverse Radius, DA Ratio Max [2 mm], Pachy Slope, DA Ratio Max [1 mm], Integrated Radius and CBI in LASIK eyes, KE eyes and KC eyes were higher than in normal eyes, while the ARTh and SP-A1 parameters were lower than in normal eyes. The KE eyes had higher Max Inverse Radius, DA Ratio Max [2 mm], Pachy Slope, DA Ratio Max [1 mm], Integrated Radius, and lower SP-A1 value than LASIK eyes (all P < 0.05). The central corneal thickness was related to the Pachy Slope (r = -0.485), ARTh (r = -0.766), SP-A1 (r = 0.618) in KE eyes (all P < 0.05). The area under the ROC curve of Integrated Radius, Max Inverse Radius, DA Ratio Max [2 mm] and SP-A1 were above 0.800 in identifying KE from LASIK eyes. Thus, the new Corvis ST parameters were different between LASIK and KE eyes, suggesting that they might be helpful in distinguishing KE eyes from LASIK eyes. However, a further multi-center and large sample study is necessary to confirm these findings.