Hearing loss is the most prevalent disabling disease. Cochlear implantation（CI） serves as the primary intervention for severe to profound hearing loss. This consensus systematically explores the value of genetic diagnosis in the pre-operative assessment and efficacy prognosis for CI. Drawing upon domestic and international research and clinical experience, it proposes an evidence-based medicine three-tiered prognostic classification system（Favorable, Marginal, Poor）. The consensus focuses on common hereditary non-syndromic hearing loss（such as that caused by mutations in genes like GJB2, SLC26A4, OTOF, LOXHD1） and syndromic hereditary hearing loss（such as Jervell & Lange-Nielsen syndrome and Waardenburg syndrome）, which are closely associated with congenital hearing loss, analyzing the impact of their pathological mechanisms on CI outcomes. The consensus provides recommendations based on multiple round of expert discussion and voting. It emphasizes that genetic diagnosis can optimize patient selection, predict prognosis, guide post-operative rehabilitation, offer stratified management strategies for patients with different genotypes, and advance the application of precision medicine in the field of CI.
Humans ; Cochlear Implantation ; Prognosis ; Hearing Loss/surgery* ; Consensus ; Connexin 26 ; Mutation ; Sulfate Transporters ; Connexins/genetics*

Ornithine transcarbamylase(OTC)is a member of the transcarbamylase protein family,commonly found in the mitochondrial matrix of living organisms.It generally functions in a trimeric form and can catalyze the production of L-ornithine to L-citrulline.OTC is mainly expressed in the liver and intestines of mammals,playing an important role in the urea cycle and amino acid homeostasis.This article introduces the research progress of OTC genes,proteins,physiological functions,the impact of OTC deficiency on body health,and the diagnosis and treatment of OTC deficiency.

Objective To analyze the risk factors for chronic mountain sickness(CMS)in young male migrants living in high-altitude areas and to construct a diagnostic model and evaluate its diagnostic efficacy.Methods From June 10 to December 29,2023,a cross-sectional study was conducted on young male migrants subjected with convenience sampling who had been living in high-altitude areas(4 500～5 000 m)for 6 months or longer.Their demographic data were collected and blood samples were collected for laboratory test.According to the Qinghai Score for Chronic Mountain Sickness,they were divided into CMS group and non-CMS group.Then the participants were randomly divided into a training set and a test set in a ratio of 8∶2.Independent risk factors for CMS occurrence were screened out,through random forest variable importance ranking,univariate and multivariable logistic regression analysis,and a diagnostic model was constructed based on these factors.Receiver operating characteristic(ROC)curve analysis,calibration curve analysis,clinical decision curve analysis,and influence curve analysis were used to comprehensively evaluate the diagnostic performance of the model.Results According to the inclusion and exclusion criteria,308 out of 376 participants were finally subjected,and 17.53%of them were diagnosed with CMS.The major clinical symptoms of the CMS patients were dyspnea or palpitations(79.63%)and sleep disorders(85.19%).Further analysis revealed that creatine kinase-MB/creatine kinase(CK-MB/CK,OR=2.17,95%CI:1.43～3.28),high-altitude residence time(OR=2.44,95%CI:1.08～5.54),and body mass index(BMI,OR=1.62,95%CI:1.05～2.50)were 3 major independent risk factors for CMS.The area under the curve(AUC)value of the CMS diagnostic model in the training set and test set was 0.821(95%CI:0.756～0.886)and 0.821(95%CI:0.700～0.944),the specificity was 66.30%and 73.90%,the sensitivity was 89.50%and 81.20%,respectively,indicating good discrimination ability.Hosmer-Lemeshow goodness-of-fit test showed consistency between predicted results and actual observations(χ2=10.029,P=0.263;χ2=4.477,P=0.812).Clinical decision curve analysis demonstrated that within the threshold probability range from 0.1 to 0.7,the net benefit of the model exceeded both full intervention and no intervention strategies.The influence curve analysis showed high consistency between the model predictions and actual incidence when the threshold probability exceeded 0.4.These two analyses together confirmed the clinical application value of the model.Conclusion CK-MB/CK,high-altitude residence time and BMI are independent risk factors for CMS,and their diagnostic model helps identify potential individuals at risk for CMS.Early intervention can prevent the harm of CMS to the health of young men migrating to high-altitude areas.

Objective To explore the correlation between the pathogenesis of toxins damaging liver collateral and the incidence of type 2 diabetes mellitus(T2DM)based on the theory of five circuits and six qi.Methods A total of 986 patients with T2DM treated in the Department of Endocrinology and Metabolism at the Affiliated Hospital of Changchun University of Chinese Medicine from February 2019 to October 2023 were selected as the study subjects.The influences of circuit and qi indicators in the theory of five circuits and six qi on the constitutional characteristics of T2DM patients and the role of pathogenesis of toxins damaging liver collateral in the incidence of T2DM were investigated.Results(1)The five-circuit and six-qi analysis showed that the yearly circuit and sitian/zaiquan conditions had no significant effect on the constitutional characteristics of patients with T2DM(P＞0.05).However,dominant circuit,guest circuit,dominant qi and guest qi significantly influenced the constitutional characteristics of patients with T2DM(P＜0.05).For the distribution of circuit-qi indicators at birth among the 986 patients,dominant circuit was predominated by the terminal circuit of taiyang cold-water,guest circuit was characterized by deficient wood circuit or excessive water circuit,dominant qi was predominated by yangming dry-metal,and guest qi was characterized by taiyin damp-earth.(2)The correlation between the pathogenesis of toxins damaging liver collateral and the incidence of T2DM through comparative analysis revealed that the conveying and dispersing function of the liver plays a leading role in maintaining the body's yin-yang balance and ensuring free movement of qi,indicating that the critical role of toxins damaging liver collateral is the key to the incidence of diabetes.Conclusion Circuit-qi indicators have a certain influence on the constitutional characteristics of T2DM patients.The circuit-qi features at birth of the individuals prone to T2DM are as follows:dominant circuit predominated by the terminal circuit of taiyang cold-water,guest circuit characterized by deficient wood circuit or excessive water circuit,dominant qi being yangming dry-metal,and guest qi being taiyin damp-earth.Pathogenesis of toxins damaging liver collateral is closely related to the incidence of T2DM.Therefore,in treatment,the regulatory role of the liver should be emphasized,and liver-soothing herbs should be used based on syndrome differentiation,aiming for holistic treatment of the physique and the spirit and enhancing the therapeutic efficacy.The exploration will provide a new perspective and approach for the treatment of T2DM.

BACKGROUND:Kinesio taping has been widely used as a means of sports protection,but its role as a means to correct abnormal biomechanical changes of the lower limbs during side-step cutting remains unclear. OBJECTIVE:To analyze and compare the changes in lower limb kinematics and dynamics when the subjects complete the side-step cutting of the knee joint under the conditions of kinesio taping,placebo taping and blank control. METHODS:Thirty-nine male college students majoring in basketball were recruited as subjects.Each subject was tested with kinesio taping,placebo taping or no taping.The mechanical correction method was used to patch the dominant knee joint of each subject.The run-up speed of 4.5-5.5 m/s was selected to complete the 45° side-step cutting motion,and the kinematics and kinetics data were collected synchronously by the three-dimensional dynamic capture system and the force measuring platform.The kinematics and kinetics parameters at the moment of initial touchdown and peak ground reaction force were selected for data analysis.SPSS 27.0 software was used for statistical analysis of the test data. RESULTS AND CONCLUSION:Kinematic indexes:compared with no taping and placebo taping,the hip abduction and knee valgus angles at the initial touchdown moment were significantly decreased when kinesio taping was used(P<0.05);at the moment of peak lateral ground reaction force,the angles of hip abduction,knee valgus and ankle plantar flexion decreased significantly(P<0.05),and the knee flexion angle was significantly increased(P<0.05).Kinetic indexes:Compared with no taping,both kinesio taping and placebo taping significantly reduced hip abduction and external rotation torque,knee valgus and external rotation torque at the moment of initial touchdown(P<0.05),and significantly reduced peak vertical ground reaction force and peak horizontal backward ground reaction force(P<0.05);in addition,kinesio taping significantly reduced peak lateral ground reaction force compared with no taping and placebo taping(P<0.05).These results indicate that kinesio taping of the knee joint may improve some kinematic and kinetic indexes associated with lower limb injury risk factors during the completion of the side-step cutting in basketball specialized college students to some extent,and may have a positive effect on the prevention of injury during the side-step cutting.In addition,the trends in the effects of placebo taping and kinesio taping on the knee joint are more consistent in terms of changes in some indexes,suggesting that there may be a placebo effect on the mechanism of action of kinesio taping.

Objectives:To investigate the impact of baseline non-high-density lipoprotein cholesterol(non-HDL-C)levels on new-onset cardiovascular disease(CVD)in postmenopausal women. Methods:This prospective cohort study selected 8 893 postmenopausal women who participated from 2006 to 2018 employee health examination of Kailuan Group and had complete total cholesterol(TC)and HDL-C data and no history of CVD.Participants were followed up to 31 December,2021.The primary endpoint was the occurrence of CVD or death.According to the Chinese Lipid Management Guidelines(2023),the participants were divided into non-HDL-C<4.1 mmol/L group(n=6 079),4.1 mmol/L≤non-HDL-C<4.9 mmol/L group(n=1 824)and non-HDL-C≥4.9 mmol/L group(n=990).The cumulative incidence of CVD in different groups of non-HDL-C levels was calculated using the Kaplan-Meier method and tested by log-rank analysis.Multivariate Cox regression model was used to analyze the effects of different non-HDL-C levels on CVD. Results:The mean follow-up time was(10.78±4.48)years,the cumulative incidence of CVD in different non-HDL-C level groups was 1.82%,3.24%and 2.89%,respectively.Kaplan-Meier survival curve showed a statistically significant difference in cumulative incidence among the three groups(log-rank P<0.0001).The results of Cox regression analysis showed that after adjusting for confounding factors such as age and sex,the HR(95%CI)values for CVD in the 4.1≤non-HDL-C<4.9 mmol/L group and the non-HDL-C≥4.9 mmol/L group were 1.40(1.13-1.74)and 1.35(1.03-1.78),respectively. Conclusions:High non-HDL-C levels are an independent risk factor for new-onset CVD in postmenopausal women.

OBJECTIVE To prepare a new antibacterial agent triggered by near infrared light to combat bacterial infection and promote wound healing. METHODS The synthesis of antibacterial agengt was supported by the results from transmission electron microscopy, Ultraviolet-visible absorption spectroscopy and Fourier-transform infrared spectroscopy. The antibacterial agent was irradiated under near infrared(NIR) laser with different concentrations to study the photothermal properties. Release of ciprofloxacin from the antibacterial agent was determined under different conditions. Observed antibacterial activity of the agent by spread plate method and bacterial growth curve. The infected wound was made on the back skin of mice, and the mice were treated with different methods to observe the healing process of the wound and study its influence on the wound healing. RESULTS The synthesized antimicrobial agent could be heated repeatedly without attenuation under near-infrared light, and could still reach a high temperature of 45 ℃ at a low concentration of 125 µg·mL-1. At the same time, it could promote the release of loaded antibiotics, and the release rate reached 86%. Compared with 200 µg·mL-1 solution obtained by physical mixing of polydopamine and ciprofloxacin, the synthesized antimicrobial agent combined with near-infrared light showed more excellent antibacterial ability, and the bacteriostatic rate against Escherichia coli and Staphylococcus aureus was 99.9%. Antimicrobial agents with concentrations of only 0.312 5 µg·mL-1 and 1.25 µg·mL-1 combined with near infrared light significantly inhibited the growth of Escherichia coli and Staphylococcus aureus. Through the mouse skin defect model infected by Staphylococcus aureus, it was proved that the synthetic antibacterial agent still had excellent antibacterial effect in practical application, and could accelerate the healing of infected wound. CONCLUSION The synthesized antimicrobial agents have excellent antibacterial effect in vitro, and still have good antibacterial effect and promote wound healing under the conservative power irradiation without causing skin damage in vivo.

Objective:To develop a prototype artificial intelligence immunofluorescence image recognition system for classification of antinuclear antibodies in order to meet the growing clinical requirements for an automatic readout and classification of immunof luorescence patterns for antinuclear antibody (ANA) images.Methods:Immunofluorescence images with positive results of ANA in Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from April 2020 to December 2021 were collected. Three senior technicians independently and in parallel interpreted the Immunofluorescence images to determine the ANA results. Then the images were labeled according to the ANA International Consensus on Fluorescence Patterns (ICAP) classification criteria. There were 7 labeled groups: Fine speckled, Coarse speckled, Homogeneous, nucleolar, Centromere, Nuclear dots and Nuclear envelope. Each group was randomly divided into training dataset and validation dataset at a ratio of 9∶1 by using random number table. On the deep learning framework PyTORCH 1.7, the convolutional neural network (CNN) training platform was constructed based on ResNet-34 image classification network, and the automatic ANA recognition system was established. After the model was established, the test set was set up separately, the judgment results of the model were output by ranking the prediction probability, with the results of the 2 senior technicians was taken as "golden standard". Parameters such as accuracy, precision, recall and F1-score were used as indicators to evaluate the performance of the model.Results:A total of 23138 immunofluorescence images were obtained after segmentation and annotation. A total of 7 models were trained, and the effects of different algorithms, image processing and enhancement methods on the model were compared. The ResNet-34 model with the highest accuracy andswas selected as the final model, with the classification accuracy of 93.31%, precision rate of 91%, and recall rate of 90% and F1-score of 91% in the test set. The overall coincidence rate between the model and manual interpretation was 90.05%, and the accuracy of recognition of nucleolus was the highest, with the coincidence rate reaching 100% in the test set.Conclusion:The current AI system developed based on deep learning of the ANA immunofluorescence images in the present study showed the ability to recognize ANA pattern, especially in the common, typical, simple pattern.

Herein, we designed a dual-response shape transformation and charge reversal strategy with chemo-photodynamic therapy to improve the blood circulation time, tumor penetration and retention, which finally enhanced the anti-tumor effect. In the system, hydrophobic photosensitizer chlorin e6 (Ce6), hydrophilic chemotherapeutic drug berberrubine (BBR) and matrix metalloproteinase-2 (MMP-2) response peptide (PLGVRKLVFF) were coupled by linkers to form a linear triblock molecule BBR-PLGVRKLVFF-Ce6 (BPC), which can self-assemble into nanoparticles. Then, positively charged BPC and polyethylene glycol-histidine (PEG-His) were mixed to form PEG-His@BPC with negative surface charge and long blood circulation time. Due to the acidic tumor microenvironment, the PEG shell was detached from PEG-His@BPC attributing to protonation of the histidine, which achieved charge reversal, size reduction and enhanced tumor penetration. At the same time, enzyme cutting site was exposed, and the spherical nanoparticles could transform into nanofibers following the enzymolysis by MMP-2, while BBR was released to kill tumors by inducing apoptosis. Compared with original nanoparticles, the nanofibers with photosensitizer Ce6 retained within tumor site for a longer time. Collectively, we provided a good example to fully use the intrinsic properties of different drugs and linkers to construct tumor microenvironment-responsive charge reversal and shape transformable nanoparticles with synergistic antitumor effect.

Adoptive cellular immunotherapy has been widely recognized in recent years due to its remarkable results, especially the success of CD19-specific chimeric antigen receptor (CAR) autologous T cell therapy for malignant hematoma. Previous studies have found the existence of tumor immune microenvironment, heterogeneous targets, and immunosuppressive receptors in solid tumors, which has led to the shortcomings of CAR-T treatment of solid tumors. This article proposes the methods to improve CAR-T cells to increase T cell infiltration, co-expression of cytokines and enzymes and modification of related receptors in order to enhance the anti-solid tumor activity of CAR-T, laying a theoretical foundation for the follow-up CAR-T cell treatment of solid tumors.