Background: Hearing loss (HL) is one of the most common sensory disorders, affecting over 5-8% of the world's population. Approximately half of HL cases are attributed to genetic factors. In hereditary deafness, about 75-80% is inherited through autosomal recessive inheritance, and common pathogenic genes include GJB2 and SLC26A4. Pathogenic variants in the SLC26A4gene are the leading cause of hereditary hearing loss in humans, second only to the GJB2 gene. Variants in the SLC26A4gene cause hearing loss, which can be non-syndromic autosomal recessive deafness (DFNB4, OMIM #600791) associated with enlarged vestibular aqueduct (EVA) or Pendred syndrome (Pendred, OMIM #605646). DFNB4 is characterized by sensorineural hearing loss combined with EVA or less common cochlear malformation defect. Pendred syndrome is characterized by bilateral sensorineural hearing loss with EVA and an iodine defect that can lead to thyroid goiter. Currently, it is known that EVA is associated with variants in the SLC26A4 gene and is a penetrant feature of SLC26A4-related HL. Predominant mutations in these genes differ significantly across populations. For instance, predominant SLC26A4 mutations differ among populations, including p.T416P and c.1001G>A in Caucasians, p.H723R in Japanese and Koreans, and c.919-2A>G in Han Taiwanese and Han Chinese. On the other hand, there has been no study of hearing loss related to SLC26A4 gene variants among Mongolians, which is the basis of our research. Aim: We aimed to identify the characteristics of the SLC26A4 gene variants in Mongolian people with Enlarged vestibular aqueduct and Mondini malformation. Materials and Methods: In 2022-2024, We included 13 people with hearing loss and enlarged vestibular aqueduct, incomplete cochlea (1.5 turns of the cochlea with cystic apex- incomplete partition type II- Mondini malformation) were examined by CT scan of the temporal bone in our study. WES (Whole exome sequencing) analysis was performed in the Genetics genetic-laboratory of the National Taiwan University Hospital. Results: Genetic analysis revealed 26 confirmed pathogenic variants of bi-allelic SLC26A4 gene of 8 different types in 13 cases, and c.919-2A>G variant was dominant with 46% (12/26) in allele frequency, and c.2027T>A (p.L676Q) variant 19% (5/26), c.1318A>T(p.K440X) variant 11% (3/26), c.1229C>T (p.T410M) variant 8% (2/26) ) , c.716T>A (p.V239D), c.281C>T (p.T94I), c.1546dupC, and c.1975G>C (p.V659L) variants were each 4% (1/26)- revealed. Two male children, 11 years old (SLC26A4: c.919-2A>G) and 7 years old (SLC26A4: c.919-2A>G:, SLC26A4: c.2027T>A (p.L676Q))had history of born normal hearing and progressive hearing loss. Conclusions 1. 26 variants of bi-allelic SLC26A4 gene mutation were detected in Mongolian people with EVA and Mondini malformation, and c.919-2A>G was the most dominant allele variant, and rare variants such as c.1546dupC, c.716T>A (p.V239D) were detected. 2. Our study shows that whole-exome sequencing (WES) can identify gene mutations that are not detected by polymerase chain reaction (PCR) or NGS analysis.

Objective: To explore the association between sleep quality and cardiorespiratory fitness among secondary school students, so as to provide a reference for promoting the overall development of physical and mental health of Chinese adolescents. Methods: From September to December 2023, 5 713 secondary school students aged 13 to 18 years were selected by the stratified cluster random sampling method from Shanghai, Suzhou, Taiyuan, Wuyuan, Xingyi, and Urumqi, respectively. Sleep quality and cardiorespiratory fitness level of secondary school students were evaluated by Pittsburgh Sleep Quality Index(PSQI) combined with cardiorespiratory fitness test, and the association between sleep quality and cardiorespiratory fitness was analyzed by Pearson s correlation and multivariate linear regression. Results: The report rate of poor sleep quality among secondary school students was 33.7 %(1 926/5 713). The PSQI scores of girls aged 13-18 years were higher than those of boys ( χ 2=1.60, 12.78, 15.62, 3.04, 10.09, 13.65 ) ( P <0.05). The 20 m SRT of secondary school students was 40 (27，51) times, and the VO 2max was 46.27 (40. 84 ，51.30) mL/(kg min). The 20 m SRT and VO 2max of girls of all ages were lower than those of boys( Z =-15.27 to -6.41 , -18.06 to -14.07, P <0.05). Cardiorespiratory fitness (VO 2max) was negatively correlated with sleep duration and hypnotic medication scores in boys ( r =-0.032, -0.005); VO 2max was negatively correlated with sleep duration and daytime dysfunction scores in girls ( r =-0.028, -0.008) ( P <0.05). After controlling the related variables, linear regression analysis showed that the total PSQI score was negatively correlated with VO 2max among secondary school students( β =-0.347, P <0.01). Conclusions Secondary school students with better sleep quality have higher levels of cardiorespiratory fitness. Sleep quality should be promoted to improve cardiorespiratory fitness levels in secondary school students.

ObjectiveTo develop a nomogram-based risk prediction model for chronic obstructive pulmonary disease (COPD) incidence among the community-dwelling population aged 40 years old and above, so as to provide targeted references for the screening and prevention of COPD. MethodsBased on a natural population cohort in suburban Shanghai, a total of 3 381 randomly selected participants aged ≥40 years underwent pulmonary function tests between July and October 2021. Cox stepwise regression analysis was used to develop overall and gender-specific risk prediction models, along with the construction of corresponding risk nomograms. Model predictive performance was evaluated using the C-indice, area under the curve (AUC) values, and Brier score. Stability was assessed through 10-fold cross-validation and sensitivity analysis. ResultsA total of 3 019 participants were included, with a median follow-up duration of 4.6 years. The COPD incidence density was 17.22 per 1 000 person-years, significantly higher in males (32.04/1 000 person-years) than that in females (7.38/1 000 person-years) (P<0.001). The overall risk prediction model included the variables such as gender, age, education level, BMI, smoking, passive smoking, and respiratory comorbidities. The male-specific model incorporated the variables such as age, BMI, respiratory comorbidities, and smoking, while the female-specific model included age, marital status, respiratory comorbidities, and pulmonary tuberculosis history. The C-indices for the overall, male-specific, and female-specific models were 0.829, 0.749, and 0.807, respectively. The 5-year AUC values were 0.785, 0.658, and 0.811, with Brier scores of 0.103, 0.176, and 0.059, respectively. Both 10-fold cross-validated C-indices and sensitivity analysis (excluding participants with a follow-up duration of <6 months) yielded C-indices were above 0.740. ConclusionThis study developed concise and practical overall and gender-specific COPD risk prediction models and corresponding nomograms. The models demonstrated robust performance in predicting COPD incidence, providing a valuable reference for identifying high-risk populations and formulating targeted screening and personalized management strategies.

Background The Inner Mongolia Autonomous Region is a vast area with a wide array of ecological environments, resulting in considerable regional variations in air pollution characteristics. Current research is limited by a scarcity of systematic, region-wide studies and risk assessments. Objective To assess the health risks associated with inhalation exposure to nine heavy metal and metalloid elements in atmospheric fine particulate matter (PM_2.5) for the population of the Inner Mongolia Autonomous Region. Methods From the 10th to the 16th of each month throughout 2023, atmospheric PM_2.5 samples were collected at designated monitoring sites in 12 leagues (cities) across the Inner Mongolia Autonomous Region to analyze the characteristics and trends in concentration. The health risk assessment model developed by the United States Environmental Protection Agency was employed to evaluate both the non-carcinogenic and carcinogenic risks associated with the heavy metal elements beryllium (Be), cadmium (Cd), chromium (Cr), hydrargyrum (Hg), plumbum (Pb), manganese (Mn), and nickel (Ni) and the metalloid elements stibium (Sb) and arsenic (As). Results In 2023, a total of 1206 valid PM_2.5 samples were analyzed from the Inner Mongolia Autonomous Region. The annual average PM_2.5 concentrations in Inner Mongolia, as well as in the cities of Ordos, Wuhai, and the Alxa League, all exceeded the national limit of 35 μg·m⁻³. The PM_2.5 concentrations across the leagues (cities) exhibited a clear seasonal variation, peaking in winter, followed by spring, and reaching a minimum in summer and autumn. The median PM_2.5 concentration in Ordos throughout the year was higher than that in the other leagues (cities) of the region. Concerning health risks, the non-carcinogenic risks associated with the 9 elements detected in each league (city) were all below 1, indicating acceptable levels. However, the non-carcinogenic risk values for Mn, Cr, and As were relatively high; specifically, Ordos City displayed the highest non-carcinogenic risk values for Mn (7.74×10⁻¹) and Cr (2.97×10⁻²), while Chifeng City recorded the highest value for As (2.34×10⁻³). The carcinogenic risk values for As, Cd, Cr, and Ni fell within the range of 1×10⁻⁹ to 1×10⁻⁵, representing an acceptable level. The health risks varied with age, and the elderly residents faced the highest non-carcinogenic and carcinogenic health risks. Conclusion While the carcinogenic and non-carcinogenic risks from heavy metals and metalloids within atmospheric PM_2.5 in the Inner Mongolia Autonomous Region are generally within acceptable limits, the potential risks that Mn, As, and Cr pose to the health of elderly people warrants particular attention, and Ordos and Chifeng cities exhibit notably higher health risks among other areas. It is recommended that regular, long-term monitoring be conducted, taking into account the specific conditions at monitoring sites across each league (city), and that targeted air quality management strategies be implemented to protect public health.

Background::Hypothermia therapy has been suggested to attenuate myocardial necrosis; however, the clinical implementation as a valid therapeutic strategy has failed, and new approaches are needed to translate into clinical applications. This study aimed to assess the feasibility, safety, and efficacy of a novel selective intracoronary hypothermia (SICH) device in mitigating myocardial reperfusion injury.Methods::This study comprised two phases. The first phase of the SICH was performed in a normal porcine model for 30 minutes ( n = 5) to evaluate its feasibility. The second phase was conducted in a porcine myocardial infarction (MI) model of myocardial ischemia/reperfusion which was performed by balloon occlusion of the left anterior descending coronary artery for 60 minutes and maintained for 42 days. Pigs in the hypothermia group ( n = 8) received hypothermia intervention onset reperfusion for 30 minutes and controls ( n = 8) received no intervention. All animals were followed for 42 days. Cardiac magnetic resonance analysis (five and 42 days post-MI) and a series of biomarkers/histological studies were performed. Results::The average time to lower temperatures to a steady state was 4.8 ± 0.8 s. SICH had no impact on blood pressure or heart rate and was safely performed without complications by using a 3.9 F catheter. Interleukin-6 (IL-6), tumor necrosis factor-α, C-reactive protein (CRP), and brain natriuretic peptide (BNP) were lower at 60 min post perfusion in pigs that underwent SICH as compared with the control group. On day 5 post MI/R, edema, intramyocardial hemorrhage, and microvascular obstruction were reduced in the hypothermia group. On day 42 post MI/R, the infarct size, IL-6, CRP, BNP, and matrix metalloproteinase-9 were reduced, and the ejection fraction was improved in pigs that underwent SICH.Conclusions::The SICH device safely and effectively reduced the infarct size and improved heart function in a pig model of MI/R. These beneficial effects indicate the clinical potential of SICH for treatment of myocardial reperfusion injury.

As an important part of the enteric nervous system(ENS),enteric glial cells(EGCs)play an important role in regulating intestinal homeostasis and maintaining intestinal health in hu-mans and animals.This review focuses on the role of EGCs in maintaining intestinal barrier homeo-stasis,maintaining gastrointestinal transit and motor function,regulating the niche of intestinal cells,and the role in the occurrence and development of intestinal diseases,hoping to provide new ideas for further research on the function and mechanism of EGCs in the intestine and the occur-rence,development and treatment of related intestinal diseases.

Objective: To analyze the predictive factors for neck pain and cervical spine function after laminoplasty for degenerative cervical myelopathy (DCM) using K-means for longitudinal data (KML). Methods: In this prospective cohort study, we collected clinical and radiographic data from patients with DCM who underwent cervical laminoplasty. A novel index of surgical outcome, “neck function,” which comprises neck pain and cervical spine function according to the Japanese Orthopedic Association Cervical Myelopathy Evaluation Questionnaire, was proposed. We treated surgical outcomes as longitudinal rather than cross-sectional data and used KML for analysis. Patients were categorized as having good or poor outcomes based on the KML graph of neck pain and cervical spine function. Results: From 2016 to 2020, 104 patients underwent laminoplasty for DCM; however, 35 patients were excluded because of loss to follow-up or incomplete data. The authors found that central canal stenosis (odds ratio [OR], 17.93; 95% confidence interval [CI], 1.26–254.73; p=0.03) and preoperative neck pain (OR per 1 point increase=1.49; 95% CI, 1.12–1.99; p=0.006) were 2 negative predictive factors and that a positive K-line during flexion was a positive predictive factor (OR, 0.11; 95% CI, 0.01–0.87; p=0.036) for neck function after laminoplasty. Conclusion Central canal stenosis, preoperative neck pain and a K-line during flexion were found to be predictive of postoperative neck pain and cervical spine function after laminoplasty. To achieve better surgical outcomes for neck function, the authors suggest the utilization of these determinants as a guiding framework for the selection of surgical approaches for DCM.

Objective: This study aims to overcome challenges in lumbar spine imaging, particularly lumbar spinal stenosis, by developing an automated segmentation model using advanced techniques. Traditional manual measurement and lesion detection methods are limited by subjectivity and inefficiency. The objective is to create an accurate and automated segmentation model that identifies anatomical structures in lumbar spine magnetic resonance imaging scans. Methods: Leveraging a dataset of 539 lumbar spinal stenosis patients, the study utilizes the residual U-Net for semantic segmentation in sagittal and axial lumbar spine magnetic resonance images. The model, trained to recognize specific tissue categories, employs a geometry algorithm for anatomical structure quantification. Validation metrics, like Intersection over Union (IOU) and Dice coefficients, validate the residual U-Net’s segmentation accuracy. A novel rotation matrix approach is introduced for detecting bulging discs, assessing dural sac compression, and measuring yellow ligament thickness. Results: The residual U-Net achieves high precision in segmenting lumbar spine structures, with mean IOU values ranging from 0.82 to 0.93 across various tissue categories and views. The automated quantification system provides measurements for intervertebral disc dimensions, dural sac diameter, yellow ligament thickness, and disc hydration. Consistency between training and testing datasets assures the robustness of automated measurements. Conclusion Automated lumbar spine segmentation with residual U-Net and deep learning exhibits high precision in identifying anatomical structures, facilitating efficient quantification in lumbar spinal stenosis cases. The introduction of a rotation matrix enhances lesion detection, promising improved diagnostic accuracy, and supporting treatment decisions for lumbar spinal stenosis patients.

Objective:To determine the median effective dose (ED 50) and 95% effective dose (ED 95) of remimazolam for gastroscopy when combined with propofol in pediatric patients of different ages. Methods:This was a prospective study. American Society of Anesthesiologists Physical Status classification Ⅰ or Ⅱ pediatric patients, aged 3-12 yr, who underwent painless gastroscopy in Hainan Women and Children′s Medical Center from January to February 2024, were divided into the following groups: preschool group (3-6 yr) and school-age group (7-12 yr). Penehyclidine 0.01 mg/kg, afentanil 8 μg/kg and corresponding doses of remimazolam and propofol 1 mg/kg were intravenously injected, and gastroscopy was performed when the Modified Observer′s Assessment of Alertness/Sedation Scale score)≤1. Up-and-down sequential allocation was used. A positive response was defined as bucking, nausea, vomiting, body movement, and frowning occurred when the gastroscope entered the pharynx. The initial dose of remimazolam was 0.2 mg/kg, and the dose of remimazolam was increased/decreased by 0.02 mg/kg each time in the next patient. Probit regression method was applied to calculate the ED 50, ED 95 and 95% confidence interval ( CI) of remimazolam inhibiting responses to gastroscope placement when combined with propofol. The anesthesia-related adverse events were recorded. Results:A total of 27 pediatric patients completed the trial in preschool group and 26 cases in school-age group. The ED 50 of remimazolam was 0.266 mg/kg (95% CI 0.249-0.285 mg/kg) and the ED 95 was 0.302 mg/kg (95% CI 0.283-0.409 mg/kg) in preschool group. The ED 50 of remimazolam was 0.16 mg/kg (95% CI 0.147-0.170 mg/kg) and ED 95 was 0.183 mg/kg (95% CI 0.172-0.234 mg/kg) in school-age group. The ED 50 and ED 95 were significantly decreased in school-age group as compared with preschool group ( P<0.05). During anesthesia, 3 patients suffered hypotension (11%) in preschool group, and 3 patients suffered hypotension (12%), 2 patients suffered respiratory depression (8%), 2 patients suffered hiccup (8%), 1 patient suffered injection pain (4%) and 1 patient suffered muscle rigidity (4%) in school-age group. There was no significant difference in the incidence of adverse reactions between the two groups ( P>0.05). Conclusions:When combined with propofol, the ED 50 of remimazolam for gastroscopy in preschool and school-age pediatric patients is 0.266 mg/kg and 0.160 mg/kg, respectively, and the ED 95 is 0.302 mg/kg and 0.183 mg/kg, respectively, indicating a stronger anesthetic potency in school-age children. The probability of adverse reactions is low when the two are combined.

AIM To study the chemical constituents from salt-processed Citri Reticulatae Semen and their antioxidant activities.METHODS The 85% ethanol extract from salt-processed Citri Reticulatae Semen was isolated and purified by silica gel,D101 macroporous resins,MCI,ODS,Sephadex LH-20 and semi-prepative HPLC,then the structures of obtained compounds were identified by physicochemical properties and spectral data.Their antioxidant activities in vitro of the ethanol extract of Citri Reticulatae Semen,salt-processed Citri Reticulatae Semen and all the obtained compounds were evaluated by DPPH and ABTS+assay.RESULTS Sixteen compounds were isolated and identified as limonin(1),obacunone(2),nomilin(3),deacetyl nomilin(4),kaempferol(5),nobiletin(6),diosmetin(7),isosakuranetin(8),hesperetin(9),epicatechin(10),trans-p-menthane-1α,2β,8-triol(11),byakangelicin(12),vanillin(13),p-coumaric acid(14),4-[(1-ethoxy-2-hydroxy)ethyl]phenol(15),catechol(16).Compound 10 showed strong DPPH free radical scavenging activity,with an IC50 value of(0.015±0.001)μmol/mL,and strong ABTS+radical scavenging activity,with an IC50 value of(0.010±0.005)μmol/mL.CONCLUSION Compounds 8,11,15-16 are isolated from genus Citrus for the first time,5,12,14 are obtained from Citri Reticulatae Semen for the first time.Compound 10 shows obvious antioxidant activities.After salt roasting,the antioxidant activity of the ethanol extract of Citri Reticulatae Semen is enhanced.