Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family.

BACKGROUND: Deafness, autosomal recessive 77 (DFNB77) is a rare non-syndromic hearing loss (NSHL) worldwide, which is caused by deleterious variants within lipoxygenase homology domains 1 (LOXHD1). Here we identified that a novel missense variant of LOXHD1 was associated with NSHL in a Chinese family under consanguineous marriage. CASE PRESENTATION: A 28-year-old woman suffered a bilateral profound NSHL. Impedance audiometry, temporal bone computerized tomography (TBCT) scans and magnetic resonance imaging-inner ear hydrography (MRI-IEH) did not find any obvious abnormality of middle or inner ear. Routine genetic detection did not find pathogenic variants in common HL-associated genes. Therefore, we performed a whole-exome sequencing (WES) in this family. By trio-WES, co-segregation validation and bioinformatics analysis, we revealed that a novel homozygous variant in this patient, LOXHD1: c.5948C > T (p.S1983F), might be the pathogenic factor. Her parents (heterozygotes) and brother (wild-type) were asymptomatic. CONCLUSIONS: We successfully identified a novel variant of LOXHD1 associated with a rare NSHL from a Chinese family. Our finds highlight the effectiveness of trio-WES for molecular diagnosis of rare NHSL, and expand the genotypic spectrum of DFNB77.

Metal-Organic Framework Nanomaterials as Novel Signal Probes for Electron Transfer Mediated Ultrasensitive Electrochemical Immunoassay.

A novel and simple electrochemical immunoassay for C-reactive protein was developed using metal-organic frameworks (Au-MOFs) as signal unit. In this study, we found MOFs could be used as signal probe. And this new class of signal probe differs from traditional probe. The signal of the copper ions (Cu2+) from MOFs could be directly detected without acid dissolution and preconcentration, which would greatly simplify the detection steps and reduce the detection time. Moreover, MOFs contain large amounts of Cu2+ ions, providing high electrochemical signals. Our report represents the first example of using MOFs themselves as electrochemical signal probe for biosensors. Platinum nanoparticle modified covalent organic frameworks (Pt-COFs) with high electronic conductivity was employed as the substrate, which is the first time demonstrating the use of Pt-COFs for electrochemical immunoassay. Under the optimized experimental conditions, the proposed sensing strategy provides a linear dynamic ranging from 1 to 400 ng/mL. A detection limit of 0.2 ng/mL was obtained, indicating an improved analytical performance. With these merits, this stable, simple, low-cost, sensitive and selective electrochemical immunoassay shows promise for applications in the point-of-care diagnostics of dieses and environmental monitoring.

A dataset of storm surge reconstructions in the Western North Pacific using CNN.

The relatively short duration of available tide gauge records poses challenges for conducting comprehensive statistical analyses of storm surges in the Western North Pacific. To address this issue, we employ a convolutional neural network model to reconstruct the maximum daily storm surge at 160 tide gauges from 1900 to 2010 in the Western North Pacific. The reconstructed dataset serves multiple purposes. Firstly, it facilitates the identification of regions where notable changes in the storm surges have occurred in the past. Additionally, the dataset enables long-term analyses of the storm surge climate, offering insights into historical patterns and variations. Furthermore, it provides a solid foundation for conducting robust extreme value analyses. To ensure accessibility, the data are publicly available through a repository, allowing for easy access and utilization by the broader scientific community and the general public. Overall, our research contributes to the field of oceanography by providing a dataset that aids in understanding the historical storm surge dynamics in the Western North Pacific region.

Multiobjective Evaluation of Amine-Based Absorbents for SO2 Capture Process Using the pK a Mathematical Model.

The screening of high-efficiency and low-energy consumption absorbents is critical for capturing SO2. In this study, absorbents with better performance are screened based on mechanism, model, calculation, verification, and analysis methods. The acidity coefficient (pK a) values of ethylenediamine (EDA), piperazine (PZ), 1-(2-hydroxyethyl)piperazine (HEP), 1,4-bis(2-hydroxyethyl)piperazine (DIHEP), and 1-(2-hydroxyethyl)-4-(2-hydroxypropyl)piperazine (HEHPP) are calculated by quantum chemical methods. A mathematical model of the SO2 cyclic absorption capacity per amine (αc) in the amine-based SO2 capture process is built based on the electroneutrality of the solution. Another model of desorption reaction heat (Q des) is also built based on the van't Hoff equation. Correspondingly, αc and Q des of the above five diamines are calculated and verified with the experimental data. The results show that αc of the diamine changes with the increase in the pK a value, and the increase in the pK a value directly leads to changes in Q des. The order of αc of the above five diamines is EDA > PZ > HEHPP > HEP > DIHEP, and the order of Q des is EDA > PZ > HEHPP > DIHEP > HEP. The multiobjective analysis between αc and Q des suggests that it is not advisable to simply pursue a higher αc while ignoring Q des. The compound quaternary system absorbent has a wider range of αc than the single ternary absorbent, which is the direction of absorbent development. This study is expected to strengthen absorbent screening for the amine-based SO2 capture process from flue gas.

Physics-informed deep-learning parameterization of ocean vertical mixing improves climate simulations.

Uncertainties in ocean-mixing parameterizations are primary sources for ocean and climate modeling biases. Due to lack of process understanding, traditional physics-driven parameterizations perform unsatisfactorily in the tropics. Recent advances in the deep-learning method and the new availability of long-term turbulence measurements provide an opportunity to explore data-driven approaches to parameterizing oceanic vertical-mixing processes. Here, we describe a novel parameterization based on an artificial neural network trained using a decadal-long time record of hydrographic and turbulence observations in the tropical Pacific. This data-driven parameterization achieves higher accuracy than current parameterizations, demonstrating good generalization ability under physical constraints. When integrated into an ocean model, our parameterization facilitates improved simulations in both ocean-only and coupled modeling. As a novel application of machine learning to the geophysical fluid, these results show the feasibility of using limited observations and well-understood physical constraints to construct a physics-informed deep-learning parameterization for improved climate simulations.

Clinical evaluation of arthrodesis with Ilizarov external fixator for the treatment of end-stage ankle osteoarthritis: A retrospective study.

ABSTRACT: To analyze the efficacy of arthrodesis with Ilizarov external fixator for the treatment of end-stage ankle osteoarthritis.This retrospective study included 88 patients with end-stage (stage-3) ankle osteoarthritis according to Morrey-Wiedeman classification who underwent arthrodesis with Ilizarov external fixator from January 2016 to January 2019. There were 47 males and 41 females with a mean age of (57.21 ±â€Š7.12) years old (range 49-76). Outcomes were measured by the American Orthopaedic Foot and Ankle society (AOFAS) Ankle Hindfoot Scale, Visual Analog Scale (VAS) pain scores, complications, subjective satisfaction, ankle function, correction of deformity, and complications.With an average follow-up of (13.50 ±â€Š5.41) months (range 10-21), all 88 patients returned for final follow-up. All patients achieved bony healing with a success rate of 100%. Mean postoperative healing time (3.56 ±â€Š1.04) months (range 3-6). Two patients developed sinus tract infection, delayed healing in 1 patient, and 2 patients had pain and swelling again in the ankle joint. No serious complications occurred in other patients. All the patients evaluated with the VAS scores and AOFAS scores at final follow-up showed significant improvement (P < .05). Through imaging analysis, medical tibial talar angle (MTTA) improved from (85.76 ±â€Š6.01) degrees to (88.98 ±â€Š1.35) degrees postoperative. Lateral talar station (LTS) decreased from (5.32 ±â€Š3.81) mm to (2.71 ±â€Š2.62) mm after operation (P < .05). The overall satisfaction of patients is 88.64%.In the treatment of end-stage ankle osteoarthritis, arthrodesis with Ilizarov external fixator can achieve good radiological and clinical outcomes with low prevalence of ankle joint malalignment and high fusion rates and satisfaction.

Hypermethylation of the SEPT9 Gene Suggests Significantly Poor Prognosis in Cancer Patients: A Systematic Review and Meta-Analysis.

Background: Aberrant hypermethylation of the Septin 9 (SEPT9) is an early event in several human cancers, and increasing studies have reported good performance of methylated SEPT9 (mSEPT9) in cancer diagnosis. Recent studies further focused on its value in cancer prognosis, but results are not clearly elucidated. Methods: A comprehensive search to identify relevant studies about the association between mSEPT9 and cancer prognosis was conducted through the EMBASE, PubMed, and Web of Science databases (up to January 2019). The main outcomes were overall survival (OS) and disease-free survival (DFS). The hazard ratio (HR) and 95% confidence interval (CI) for OS and DFS were extracted from each included study and pooled using a random-effects model. Results: Ten eligible studies comprising 1,266 cancer patients were included. Results demonstrated that mSEPT9 was associated with poor OS (HR = 2.07, 95% CI = 1.40-3.06). Specially, mSEPT9 detected in preoperative plasma predicted worse OS in cancer patients (HR = 3.25, 95% CI = 1.93-5.48). In addition, we also identified a significant association of mSEPT9 with decreased DFS of cancer (HR = 3.24, 95% CI = 1.81-5.79). Conclusion: Our meta-analysis supports that mSEPT9 is associated with reduced OS and DFS in cancer patients. Moreover, detection of mSEPT9 using plasma appears to be a convenient and promising way to predict long-term survival of cancer patients.

An Enzyme-Linked Immunosorbent Assay for C-Reactive Protein Based on Gold Nanoparticles@Metal Porphyrin Porous Compound.

In this paper, an enzyme-linked immunosorbent assay (ELISA) using gold nanoparticles/metal porphyrin porous compound (Au NPs@PAF-40-Fe) as a marker was developed. Quantitative detection of C-reactive protein (CRP) was achieved by UV-visible spectrophotometry under optimal conditions. The sensor has a good linear relationship in the range of 0.05-2000 ng/mL. The lower limit of detection was 0.017 ng/mL (S/N = 3), the linear correlation coefficient was 0.9921, and the average recovery was 100.74%. The ELISA has good selectivity and provides a sensitive way for detection of CRP.

2D-porphrinic covalent organic framework-based aptasensor with enhanced photoelectrochemical response for the detection of C-reactive protein.

In this study, a novel photoelectrochemical (PEC) aptasensor based on two-dimensional (2D) porphyrinic covalent organic frameworks (p-COFs) for the label-free detection of C-reactive protein (CRP) is presented. The obtained p-COFs possess high conductivity and an improved stability due to strong and rigid covalent linkages. The introduction of p-COFs hinder the recombination of electrons and holes, decreasing their band gap (Eg), thereby which improved the photocurrent conversion efficiency. Compared with pure porphyrin, p-COFs exhibited enhanced photocurrent intensity. An amplified photocurrent conversion efficiency and enhanced photocurrent results from H2O2, which act as active molecules and electron donors. As an unprecedented application of COFs in PEC bioanalysis, the detection of CRP with a PEC aptasensor is presented. The assembly of a CRP aptamer on the surface of Ag nanoparticles hinders the electron transfer, resulting in the decrease of the photocurrent response. This PEC aptasensor exhibits good analytical performances such as a rapid response, high stability, wide linear range and excellent selectivity, making COFs promising candidates for PEC bioanalysis.

Storm surge variation along the coast of the Bohai Sea.

The present study mainly investigates the storm surge variations at different temporal scales using hourly tide gauge data in the Bohai Sea. The seasonal variation, inter-decadal variation, long-term trend and the tide-surge interaction were analyzed separately. The results show that the storm surges in the southwest Bohai Sea are larger than those in the north. The storm surges were more serious in winter (Oct. to Mar.) than in summer half of the year. Significant inter-decadal variations exist in the Bohai Sea, and the extreme storm surge events have been intensifying since 2010. Storm surge intensities at three of the tide gauges (Qinhuangdao, Huludao and Tanggu) exhibited a decreasing trend from 1980 to 2016, with trends significant at the 95% level at Qinhuangdao and Tanggu. Significant tide-surge interactions were observed at all four tide gauges. The tide-surge interaction that results in peak surges mostly occurs during the flood and ebb tides. There is a statistically significant negative correlation between storm surge intensity and the Arctic Oscillation (AO) at Longkou and Tanggu, while there is a significantly positive correlation between storm surge intensity and the Siberian High (SH) at Huludao, Qinhuangdao and Tanggu. A linear regression analysis revealed that the variations of the AO and SH explained 19-48% of the variations in the storm surge intensity in the Bohai Sea.

The Preparation of C-Reactive Protein Immunosensor Based on Nano-Mimetic Enzyme Co3O4.

In this work, a nano-mimetic enzyme Co3O4 nanoparticles with catalytic effect on the reduction of H2O2, was synthesized and used to label C-reactive protein antibody. Au nanoparticles (Au NPs) were loaded on COF-TpPa-1 to form Au NPs@COF-TpPa-1 with good biocompatibility and adsorption ability. A sandwich C-reactive protein immunosensor was prepared using Au NPs @COF-TpPa-1 as the immobilization matrix. The catalytic current of Co3O4 nanoparticles to the reduction of H2O2 was measured by the chronoamperometry which is in proportion to the concentration of CRP. The linear range of this immunosensor was 0.05-80 ng/mL with the linear correlation coefficient of 0.9955. The method demonstrated a good sensitivity with a detection limit of 0.017 ng/mL (S/N = 3) for CRP. When the C-reactive protein immunosensor was applied to real serum samples analysis, the satisfied results were obtained, indicating that the immunosensor is of prospect of application.