Objective To investigate the genetic causes of auditory neuropathy with optic atrophy in a family.Methods The proband's medical history and family history were inquired in detail,and relevant clinical examina-tions were performed to confirm the diagnosis of auditory neuropathy with optic atrophy,and the genetic pedigree of the family was drawn.Peripheral blood of proband(Ⅲ-7)was collected for whole exome sequencing,and the patho-genicity of the detected mutations were interpreted.Blood samples of proband's wife(Ⅲ-8),eldest daughter(Ⅳ-7),second daughter(Ⅳ-9)and son(Ⅳ-10)were tested for mutation sites by Sanger sequencing.Combined with clinical manifestations and examination results,the family was studied.Results The genetic pattern of this family was autosomal dominant.The proband showed decreased visual acuity at the age of 19,bilateral sensorineural deaf-ness at the age of 30,and decreased speech recognition rate.Among 20 members of the family of 5 generations,10(2 deceased)showed similar symptoms of hearing and visual impairment.Proband(Ⅲ-7),eldest daughter(Ⅳ-7)and son(Ⅳ-10)underwent relevant examination.Pure tone audiometry showed bilateral sensorineural deafness.ABR showed no response bilaterally.The 40 Hz AERP showed no response in both ears.OAE showed responses in some or all of the frequencies.No stapedial reflex was detected.The eye movement of Ⅲ-7 and Ⅳ-10 were reasona-ble in all directions,and color vision was normal.Ocular papilla atrophy was observed in different degrees in fundus examination.OCT showed thinning of optic disc nerve fibers in both eyes,and visual evoked potential showed pro-longed P100 wave peak.They were diagnosed as hereditary auditory neuropathy with optic atrophy.A mutation of the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)at a pathogenic locus on chromosome 3 was detected by whole exon detection in Ⅲ-7.The results of generation sequencing analysis showed that the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)mutation of chromosome 3 was also found in Ⅳ-7 and Ⅳ-10.Meanwhile,the gen-otypes of Ⅲ-8 and Ⅳ-9 were wild homozygous,that is,no mutation occurred.Conclusion The OPA1 c.1334G＞A(p.Arg445His,NM_015560.2)mutation site might be the pathogenic mutation in this family.

Background Grassroots medical and health personnel are an important component of China's public health system, and guaranteeing their physical and mental health will have a profound impact on the development of China's health service. Objective To identify potential influencing factors of occupational stress, anxiety, depression, and insomnia as well as their interactions. Methods In August 2021, a cross-sectional survey was conducted among all the staff (2675 medical and health personnel) at 7 secondary public hospitals and 8 health institutions in Xiong’an New Area of Hebei Province by cluster sampling. Occupational stress, anxiety, depression, and insomnia were evaluated by the Effort-Reward Imbalance Questionnaire (ERI), the Generalized Anxiety Disorder-7 (GAD-7), the Patient Health Questionnaire-9 (PHQ-9), and the Athens Insomnia Scale (AIS). The bnlearn and gmodels packages of R4.2.1 software were used to construct Bayesian networks on work and personal factors-occupational stress- health effects. The Bayesian network model was visualized by Netica32.0. Results Among the 3018 questionnaires distributed, a total of 2675 valid questionnaires were recovered, with an effective recovery rate of 88.63%. The positive rates of occupational stress, anxiety, depression, and insomnia were 51.48%, 62.13%, 62.50%, and 56.37%, respectively in the grassroots medical and health personnel. The positive rate of occupational stress among the medical and health workers varied by age, educational level, and organization type (P<0.05); the positive rate of anxiety varied by age, marital status, and daily working hours (P<0.05); and the positive rates of depression and insomnia varied by gender, educational level, and overcommitment (P<0.05). The final Bayesian network contained 14 nodes and 18 directed edges, and its prediction accuracy was 85.4%. .Job title, daily working hours, overcommitment and exercise directly associated with occupational stress, and other work and personal factors associated with occupational stress indirectly. Occupational stress associated with insomnia directly or indirectly via anxiety. Anxiety and insomnia associated with reporting depression. Conclusion Grassroots medical and health personnel of Xiong'an New Area, Hebei Province report high levels of occupational stress, anxiety, depression, and insomnia. Occupational stress directly or indirectly associates with anxiety, depression, and insomnia. Work and personal factors associate with occupational stress, and associate with anxiety, depression, and insomnia via occupational stress. Occupational stress may be an early warning factor of general work and personal factors affecting anxiety, depression, insomnia, and other mental health problems. Attention should be paid to the assessment and intervention of occupational stress in medical and health personnel to prevent mental health problems.

Objective:To construct and purify four respiratory syncytial virus (RSV) PreF proteins through gene sequence design and optimization and evaluate their immunogenicity.Methods:Coronin-1A and T4 trimer protein gene sequences were optimized with Human and CHO codons, and then added to RSV F protein sequence. The above plasmids were transfected into Expi293F cells for protein expression. After purification by nickel column, four trimer proteins were prepared. SDS-PAGE and Western blot were performed for protein identification. BALB/c mice were immunized at week 0 and week 3, and blood samples were collected to measure the activities of binding and neutralizing antibodies in serum.Results:SDS-PAGE and Western blot showed that the four proteins had stable trimer structure. Antigen-antibody affinity test showed that the four trimer proteins had strong affinity with RSV-specific monoclonal antibodies 8897, D25, Motavizumab, AM14 and Palivizumab. The titers of antibodies induced by the two T4 trimers were higher after the initial immunization, while there was a substantial increase in the titers of antibodies induced by Human codon-optimized trimer protein after the second immunization.Conclusions:PreF trimer protein can be prepared by adding any of the two different heterotrimer motifs, and induce effective binding and neutralizing antibodies in mice.

ObjectiveTo explore the influence of "Internet plus" postpartum health care service on postpartum depression, and to provide an evidence for reducing the incidence of postpartum depression and improving the quality of life for postnatal women. MethodsMothers who gave birth between August 1, 2021 and June 30, 2023 lived in the six streets of Xuhui District were selected as the research subjects. The puerperants were randomly divided into the intervention group and the control group according to the order of enrollment using a numerical numbering system, with 210 cases in each of the intervention group and control group. The intervention group adopted the "Internet plus" postpartum health care services, while the control group adopted the conventional postpartum health care services. The risk factors related to postpartum mental health and the incidence of postpartum depression were compared between the two groups. ResultsThere was no statistically significant difference in the scores of postpartum mental health-related risk factors between the two groups at the first 2 weeks and 1st month after delivery (t=0.736 and t=1.260, P>0.05). However, there was a statistically significant difference in the scores of postpartum mental health-related risk factors at the 3rd months after delivery and 6th months after delivery (t=2.089, P<0.05; t=2.655, P<0.05). There was no statistically significant difference in depression scores at the first 2 weeks after the birth (t=0.560, P>0.05). In the 1st month, the 3rd month and the 6th month after delivery, the intervention group adopted the "Internet plus" postpartum health care service, thus the differences in depression scores were statistically significant (t=2.616, t=2.793 and t=3.107, P<0.05). Conclusion"Internet plus" postpartum health care service is conducive to reducing postpartum depression, promoting maternal mental health, and significantly improving the well-being of postnatal women.

Objective:To investigate the prevalence of adult skeletal fluorosis caused by drinking tea-type endemic fluorosis in Yushu Tibetan Autonomous Prefecture (hereinafter referred to as Yushu Prefecture), Qinghai Province, and provide scientific basis for prevention and control of the disease.Methods:In August 2021, one village was selected as a survey site in six counties (cities) in Yushu Prefecture, including Nangqian, Chindu, Yushu, Zadoi, Qumarlêb, and Zhiduo. Drinking water samples and 10 brick tea samples were collected from each village to determine the fluoride content in water and brick tea; at least 100 permanent residents aged ≥ 25, who had a habit of drinking brick tea and had lived in the local area for more than 5 years, were selected for X-ray imaging to examine the prevalence of adult skeletal fluorosis.Results:A total of 75 samples of residential drinking water were collected, with a fluoride content of (0.21 ± 0.05) mg/L, ranging from 0.11 to 0.34 mg/L; 60 samples of brick tea, with a fluoride content of (626.70 ± 157.27) mg/kg, ranging from 324.00 to 2 102.00 mg/kg. A total of 1 136 adults were examined, and 318 cases of skeletal fluorosis were diagnosed, with a detection rate of 27.99%. Among them, the detection rates of mild, moderate, and severe skeletal fluorosis were 20.95% (238/1 136), 6.07% (69/1 136), and 0.97% (11/1 136), respectively, with mild symptoms being the main. The detection rates of skeletal fluorosis in males and females were 29.09% (121/416) and 27.36% (197/720), respectively, with no statistically significant difference between the gender (χ 2 = 0.39, P = 0.533). Comparison of the skeletal fluorosis in different gender, the differences were statistically significant (χ 2 = 22.31, P < 0.001). The detection rates of skeletal fluorosis in the age groups of 25 - 35, 36 - 45, 46 - 55, 56 - 65, 66 - 75, and ≥76 years old were 6.86% (7/102), 22.37% (51/228), 24.02% (92/383), 37.44% (73/195), 43.48% (70/161), and 37.31% (25/67), respectively. The differences between the groups were statistically significant (χ 2 = 59.84, P < 0.001). Moreover, there was a statistically significant difference in the composition of skeletal fluorosis among different age groups ( H = 37.66, P < 0.001). The Spearman correlation analysis results showed that the severity of adult skeletal fluorosis was positively correlated with age ( r = 0.34, P < 0.001). Conclusions:There is a certain degree of prevalence of adult skeletal fluorosis in Yushu Prefecture. And as age increases, the condition of skeletal fluorosis becomes more severe.

AIM: To investigate the effects of hypobaric hypoxia in plateau on tear indexes and related anatomical structures in rabbits.METHODS: A total of 18 healthy New Zealand rabbits were selected and randomly divided into plateau group and control group, with 9 rabbits(18 eyes)in each group. The plateau group was housed in the Simulated Climate Cabin for Special Environment of Northwest of China, simulating hypobaric hypoxia at an altitude of 6 000 m. The control group was housed in a clean animal room with atmospheric pressure and oxygen. Changes in the tear meniscus height and non-invasive tear break-up time were detected by using RHCT-1 corneal topographer dry eye comprehensive analysis system, changes in tear secretion was measured by Schirmer Ⅰ test, before intervention and on the 3, 7 d, 2 and 4 wk. Meanwhile, the changes in tear composition before and after intervention in the plateau environment were analyzed using Raman Spectroscopy. The histopathological changes of the lower lid conjunctiva, cornea, lacrimal gland, and Hardarian gland were observed by hematoxylin-eosin(HE)staining after 4 wk of intervention, and the expression of mucin 5AC(MUC5AC)in conjunctiva was detected by immunohistochemistry.RESULTS: Compared with the control group, Schirmer Ⅰ test, tear meniscus height, first and average non-invasive tear break-up time in the plateau group decreased significantly since 3 d, and the difference was significant with the extension of observation time(P<0.05). The above indexes increased from 2 wk. After 4 wk of intervention, the protein and lipid content of the tear composition of rabbits in the plateau group increased, and the nucleic acid content decreased compared with the pre-intervention period. Compared with the control group, rabbits in the plateau group showed thickening of corneal stromal edema, an increase in the number of conjunctival cup cells, increase in the level of expression of MUC5AC, an increase in the level of expression of MUC5AC, an atrophy and flattening of cytoplasm in lacrimal epithelial cells, an enlargement of glandular lumen, and no obvious destructive changes in the Hardarian glands.CONCLUSION: Acute plateau environment can destroy the homeostasis of rabbit ocular surface, so that the tear secretion and the tear film stability decreases, but within a certain period of time, rabbits undergo compensation with the habituation to the hypobaric hypoxia environment, which can increase the tear secretion to a certain extent and restore the tear film stability.

Objective This study aimed to identify PAX9 variants in non-syndromic tooth agenesis families of Chi-na,as well as to analyze the genotype-phenotype of non-syndromic tooth agenesis caused by PAX9 variants,which can provide a basis for the genetic diagnosis of tooth agenesis.Methods We collected the data of 44 patients with non-syn-dromic oligodontia who underwent treatment at Stomatological Hospital of Hebei Medical University between 2018 and 2023.Whole-exome sequencing was performed on the peripheral blood of the proband and its core family members,and the variants were verified by Sanger sequencing.Pathogenicity analysis and function prediction of the variants were per-formed using bioinformatics tools.The correlation between the genotype of PAX9 variant and its corresponding pheno-type was examined by reviewing 55 publications retrieved from PubMed.The studies involved 232 tooth agenesis pa-tients with PAX9 variants.Results A novel PAX9 c.447delG(p.Pro150Argfs*62)and a reported PAX9 c.406C>T(p.Gln136*)were identified in two Chinese families.Through bioinformatics analysis and three-dimensional structural mod-eling,we postulated that the frameshift variant was pathogenic.The outcome was the premature cessation of PAX9 pro-tein,which caused severe structural and functional deficiencies.Summarizing the PAX9 genotype-phenotype relationship revealed that patients carrying the PAX9 variant commonly led to loss of the second molars.Conclusion We identified the novel PAX9 c.447delG(p.Pro150Argfs*62)in a Chinese family of non-syndromic oligodontia,expanding the known variant spectrum of PAX9.The most susceptible tooth position for PAX9 variants of tooth agenesis was the second mo-lars and the deciduous molars during the deciduous dentition.

Objective To explore the effect of Lee-Silverman voice treatment (LSVT) on language re-habilitation of dysarthria in Parkinson's disease (PD).Methods A total of 84 patients with PD dysarthria ad-mitted to our hospital from February 2019 to February 2022 were selected as the research objects.According to the random number table method,they were divided into observation group and control group,with 42 cases in each group.The control group received routine speech rehabilitation training,and the observation group re-ceived LSVT for four weeks.The scores of Western Aphasia Battery (WAB) and Aphasia Quotient (AQ) be-fore and after intervention were compared between the two groups,and the differences of electroglottographic parameters such as jitter,F0,shimmer,normalized noise energy (NNE) and harmonic noise ratio (HNR) were compared between the two groups.Results Before intervention,there was no significant difference in WAB scores (listening comprehension,repetition,spontaneous speech,naming) and AQ scores between the two groups (P>0.05).After intervention,the above scores of the two groups were significantly improved,and the observation group was higher than the control group,the difference was statistically significant (P<0.05). Before intervention,the jitter,F0,shimmer,NNE,HNR of vowels "a""i""u" in the two groups were not sta-tistically significant (P>0.05).After intervention,the above-mentioned electroglottic parameters of the two groups were significantly improved.The jitter and NNE of vowels "a""i""u" in the observation group were lower than those in the control group,and the HNR was higher than that in the control group,the differences were statistically significant (P<0.05).Conclusion LSVT can improve the electroglottographic parameters and speech function of patients with PD dysarthria,and the language rehabilitation effect of PD dysarthria is obvious.

Objective To assess the prevalence of mycoplasma genitalium(MG)in patients attending sexually transmitted disease(STD)clinic in Guangzhou,and to provide an epidemiological foundation for clinical treatment and laboratory diagnostics.Methods Utilizing real-time polymerase chain reaction(PCR),we analyzed MG DNA in 2,749 clinical specimens collected from 2,722 outpatients in the Dermatology Hospital of Southern Medical University from July 2019 to December 2021.Concurrent testing for MG,Chlamydia trachomatis(CT),and Neisseria gonorrhoeae(NG)was performed on 2,382 of these specimens.Patient data extracted from medical records were used to investigate the correlation between STD symptoms and MG infection.Results The investigation revealed that the overall prevalence of MG infection was 4.4%among the sampled patients(120 out of 2,722),with a higher prevalence in males(4.9%,or 87 out of 1,790)compared to in females(3.5%,or 33 out of 932).Notably,the prevalence decreased with increasing age.The highest incidence of MG infection was observed in females aged 18～25 years(6.4%,or 18 out of 281),while the lowest was in males aged 46 years and above(1.5%,or 5 out of 342),showing a statistically significant variation across age groups(P<0.05).Among males with urethritis symptoms,MG positive rate was significantly higher at 7.3%(42 out of 574).The rate of single MG infection was prominent,accounting for 89.9%(71 out of 79)in MG-positive male patients and 61.5%(16 out of 26)in MG-positive female patients.Co-infection rate of MG with CT was 1.2%in females and 0.3%in males,indicating a significant dif-ference(P<0.05).Conclusion The findings suggest a relatively high prevalence of MG infection and co-infection with CT among STD clinic attendees in Guangzhou,particularly in the younger demographic.The study underscores the need for early screening and vigilant surveillance of MG to mitigate its transmission among sexually active popula-tions at high risk.

Objective The aim of this study was to analyze the predictive value of an immune scoring model based on im-mune cell infiltration for the efficacy and prognosis of immunotherapy in early gastric cancer.Methods The gene expression data and related clinical parameters of 167 early gastric cancer patients were downloaded from the Cancer Genome Atlas(TCGA)as the training set.The clinical information of 92 early gastric cancer patients who first visited our hospital from January 2017 to January 2020 was collected as a validation set.The infiltration of 22 immune cells in tumor tissues was calculated by the Cibersort software.The key pre-dictive factors for early gastric cancer patients were further screened and determined by lasso analysis and multivariate Cox regression analysis.The eligible immune cells were used to construct the prognostic risk scoring model and verify it.Based on the risk model,a nomograph model was established to predict the probability of death and treatment failure in early gastric cancer patients,and evaluate the differentiation,accuracy,and reliability of the model.Results There was no statistically significant difference in the general infor-mation of patients between the training set and the validation set(P＞0.05).Compared with normal tissues,the content of CD8+T cells,activated memory CD4+T cells,M0 macrophages,M1 macrophages,resting dendritic cells,and activated dendritic cells in early gastric cancer tumor tissues decreased.The contents of regulatory T cells(Treg cells)and eosinophils increased,and the difference was statistically significant(P＜0.05).The LASSO analysis further screened five types of infiltrating immune cells,including activated memory CD4+T cells,M1 macrophages,Treg cells,activated dendritic cells and eosinophils.The survival curve results showed that the immune scoring model could effectively distinguish the survival time of patients.The total score of the prognostic nomogram model was 274,corresponding to risk of death of 72%.The total score of the treatment effect nomograph model was 307,corresponding to a 75%risk of ineffective treatment.The model validation results showed that the nomograph model has high discrimination,accuracy and reli-ability.Conclusion The immune scoring model based on immune cell infiltration has a certain predictive value for the efficacy and prognosis of immunotherapy in patients with early gastric cancer.