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*

Although a single nucleotide polymorphism for N-acetyltransferase 10 (NAT10) has been identified in patients with early-onset stroke, the role of NAT10 in ischemic injury and the related underlying mechanisms remains elusive. Here, we provide evidence that NAT10, the only known RNA N4-acetylcytidine (ac4C) modification "writer", is increased in the damaged cortex of patients with acute ischemic stroke and the peri-infarct cortex of mice subjected to photothrombotic (PT) stroke. Pharmacological inhibition of NAT10 with remodelin on Days 3-7 post-stroke or astrocytic depletion of NAT10 via targeted virus attenuates ischemia-induced infarction and improves functional recovery in PT mice. Mechanistically, NAT10 enhances ac4C acetylation of the inflammatory cytokine tissue inhibitor of metalloproteinase 1 (Timp1) mRNA transcript, which increases TIMP1 expression and results in the accumulation of microtubule-associated protein 1 light chain 3 (LC3) and progression of astrocyte autophagy. These findings demonstrate that NAT10 regulates astrocyte autophagy by targeting Timp1 ac4C after stroke. This study highlights the critical role of ac4C in the regulation of astrocyte autophagy and proposes a promising strategy to improve post-stroke outcomes via NAT10 inhibition.

The aim of this study was to produce recombinant porcine interferon gamma (rPoIFN-γ) by Chinese hamster ovarian (CHO) cells expression system and to analyze its antiviral activity. Firstly, we constructed the recombinant eukaryotic expression plasmid pcDNA3.1-PoIFN-γ and transfected into suspension cultured CHO cells for secretory expression of rPoIFN-γ. The rPoIFN-γ was purified by affinity chromatography and identified with SDS-PAGE and Western blotting. Subsequently, the cytotoxicity of rPoIFN-γ was analyzed by CCK-8 test, and the antiviral activity of rPoIFN-γ was evaluated using standard procedures in VSV/PK-15 (virus/cell) test system. Finally the anti-Seneca virus A (SVA) of rPoIFN-γ activity and the induction of interferon-stimulated genes (ISGs) and cytokines were also analyzed. The results showed that rPoIFN-γ could successfully expressed in the supernatant of CHO cells. CCK-8 assays indicated that rPoIFN-γ did not show cytotoxicity on IBRS-2 cells. The biological activity of rPoIFN-γ was 5.59×10⁷ U/mg in VSV/PK-15 system. Moreover, rPoIFN-γ could induced the expression of ISGs and cytokines, and significantly inhibited the replication of SVA. In conclusion, the high activity of rPoIFN-γ was successfully prepared by CHO cells expression system, which showed strong antiviral activity on SVA. This study may facilitate the investigation of rPoIFN-γ function and the development of novel genetically engineered antiviral drugs.
Swine ; Animals ; Cricetinae ; Interferon-gamma/pharmacology* ; Cricetulus ; CHO Cells ; Sincalide ; Recombinant Proteins/pharmacology* ; Antiviral Agents/pharmacology*

Objective:To enhance understanding of mental retardation autosomal dominant 35 (MRD35) by analyzing the clinical and genetic characteristics of the disease.Methods:Clinical and genetic data of 1 case of MRD35 in Beijing Children′s Hospital in July 2018 were reported, and literature review was conducted.Results:The male proband, 1 year and 3 months old, was admitted with the clinical manifestations including mental retardation, low-grade fever, a large forehead, flat nose, open mouth, and hypomyotonia. The brain magnetic resonance imaging showed enlarged lateral ventricles, cavum septum, cavum verge and cavum velum interpositum cyst. The whole exome sequencing test showed that the proband carried a missense mutation c.1258 G>A, (p.E420K) in the PPP2R5D gene, and the mutation was de novo confirmed by Sanger sequencing. There were ten literatures reported, including a total number of 31 cases. Counting on this case, totally 32 cases were included. Among the 32 patients, 32 cases (100.0%) had mental retardation, 26 cases (81.3%) with motor retardation, 26 cases (81.3%) with macrocephaly, 8 cases (25.0%) with epilepsy. Facial dysmorphic features, ocular abnormalities, skeletal abnormalities, and cardiac malformations were also reported. All reported individuals had missense mutations of PPP2R5D gene and were autosomal dominantly inherited. Conclusions:The main clinical manifestations of MRD35 include growth retardation/mental retardation, severe speech impairment, macrocephaly, hypomyotonia, seizures and dysmorphic facial features. A novel missense mutation in the PPP2R5D gene is the cause of MRD35.

Human Anatomy and Physiology is one of the basic professional courses for students majored in special education in normal colleges. It is of great importance to develop a comprehensive curriculum and improve the associated teaching approaches. In recent years, we have taken a series of approaches including optimizing the teaching content, highlighting the curriculum value, diversifying the teaching methods, and improving the evaluation methods. These approaches have received good effects and responses. Here we summarize the experiences and share our insights with colleagues.
Curriculum ; Education, Special ; Humans ; Students ; Universities

Objective:To analyze the status of follow-up and its correlation with highly active antiretroviral therapy (HAART) for newly diagnosed HIV/AIDS patients from 2014 to 2016 in Shandong province, then to provide theoretical evidence for the improvement of follow-up and HAART.Methods:Based on retrospective cohort study, logistic regression model was used to identify influencing factors of follow-up for HIV/AIDS, and chi-square test was used to do correlation analysis.Results:There were 6253 newly diagnosed HIV/AIDS cases from 2014 to 2016 in Shandong province, and 6011 cases accepted follow-up service. The cumulative follow-up rate was 96.13%, and timely follow-up rate was 94.51%. Higher prevalence of follow-up was found among those aged 15-24 years at diagnosis, diagnosed by VCT, with education level of college and above, lived in east of Shandong province and infected with homosexual sex behaviors. HIV/AIDS cases who received follow-up service within 1 year of diagnosis were more likely to receive HAART ( OR=5.28, 95% CI: 3.51-7.95) and meet the level of viral load (VL) suppression ( OR=4.30, 95% CI: 2.89-6.40) than those who received follow-up service later. Conclusions:The status of follow-up of HIV/AIDS in Shandong province was influenced by age at diagnosis, sample resource, cultural level, address and transmission route. Timely follow-up can improve the proportion and effect of HIV/AIDS treatment.

Objective:To evaluate the utility of CT perfusion (CTP) for assessment of effect of encephalo-duro-arterio-synangiosis (EDAS) on moyamoya disease (MMD).Methods:Thirty-eight adult MMD patients, who underwent EDAS in our hospital from March 2014 to October 2019, were chosen in our study. All patients received CTP and digital subtraction angiography (DSA) before and after surgery; cerebral blood flow (CBF), cerebral blood volume (CBV), mean transit time (MTT) and time to peak (TTP) in the operative cerebral cortices and their contralateral mirror areas, as well as brainstems were measured respectively; their relative parameter values (rCBF, rCBV, rMTT and rTTP) were calculated with the brainstem as the reference; perfusion changes of cerebral tissues were observed before and after surgery, and efficacies of these parameters in evaluating the surgical treatment effect were compared. According to the degrees of collateral formation detected by postoperative DSA, the 42 hemispheres of these patients were divided into group of good collateral formation and group of poor collateral formation, and the differences of perfusion changes in the two groups were further discussed.Results:CTP revealed that cerebral perfusion at surgical side after EDAS was significantly improved in all the 42 hemispheres; significantly increased rCBF, and significantly decreased rMTT and rTTP were noted as compared with those before surgery ( P<0.05). Receiver operating characteristic (ROC) curve showed that the area under the curve of rTTP (0.897) was the largest among all parameters, with diagnostic sensitivity of 87.5% and specificity of 80.8%. Twenty-six patients (61.9%) were into the group of good collateral formation and 16 (38.1%) were into the group of poor collateral formation; changed values of rCBF and rMTT in the group of good collateral formation were significantly better than those in the group of poor collateral formation ( P<0.05). Conclusion:CTP can quantitatively evaluate cerebral hemodynamic changes after EDAS in moyamoya disease patients, and postoperative rTTP changes can reflect the degrees of collateral vessel formation.

Objective To report the spontaneous remission and induced remission of phospholipase A2 receptor (PLA2R)-associated idiopathic membranous nephropathy (IMN) in adults,as well as to explore the potential prognostic factors.Methods A total of 120 patients with IMN in Huashan Hospital during 2012 and 2017 were enrolled and their clinical data were collected.Results PLA2R-associated IMN patients accounted for 89.2％ of the IMN patients.Spontaneous remission occurred in 35.5％ of PLA2R-associated IMN patients.The patients with higher serum albumin and lower level of PLA2R antibody were more likely to achieve spontaneous remission (both P ＜ 0.05).Multivariate logistic regression analysis showed that male was an independent risk factor for spontaneous remission in PLA2R-associated IMN patients (OR=0.060,95％CI 0.007-0.493,P=0.009),while higher serum albumin at baseline (OR=1.480,95％ CI 1.144-1.932,P=0.004) and the improvement of serum albumin after 3 months' non-immunosuppressive treatment (OR=2.040,95％CI 1.322-3.151,P=0.001) were independent protective factors for spontaneous remission.About 42.1％ PLA2R-associated IMN patients had received immunosuppressive therapy,with induced remission rate being 70.7％.High serum albumin before treatment was an independent protective factor for induced remission (OR=1.268,95％ CI 1.014-1.585,P=0.038).Conclusions PLA2R-associated IMN accounts for most of the IMN patients,with a spontaneous remission rate of 35.5％,during the follow-up period,which is even higher in patients with higher baseline serum albumin and lower PLA2R antibody titer.Induced remission rate is 70.7％ in patients in need of immunosuppresants.The serum albumin level may be helpful in predicting spontaneous remission and response to immunosuppressive therapy.

Objective To evaluate the role of 131I SPECT/CT in post-surgical re-staging and recurrence risk stratification in patients with DTC and its impact on subsequent treatment strategy.Methods 131I-WBS and 131I SPECT/CT were performed at the same time 5 to 7 d after 131I treatment in 118 patients (33 males,85 females,average age 45 years) with DTC.Difference in the localization and qualitative diagnosis of 131I uptake lesions between 131I-WBS and 131I SPECT/CT were compared.Value of 131I SPECT/CT in the diagnosis of TNM staging,risk stratification and impact on the treatment strategy was evaluated.Paired χ2 test was used for data analysis.Results A total of 509 foci with 131I uptake were detected.131I-WBS found 449 foci with 131I uptake,354 of which (78.84％) were correctly diagnosed.131I SPECT/CT found 509 foci with 131I uptake,and 504(99.02％) were correctly diagnosed.The difference was statistically significant (χ2=21.51,P<0.01).131I-WBS changed the clinical staging in 13 cases with diagnostic accuracy of 5/13.131I SPECT/CT changed the clinical staging in 19 cases and with diagnostic accuracy of 19/19 (χ2=74.41,P<0.01).131I-WBS changed the risk stratification of 13 patients after operation and the accuracy was 5/13,the corresponding data were 22 and 100％(22/22) for 131I SPECT/CT (χ2=74.41,P<0.01).The treatment strategy was changed in 50 patients with 131I SPECT/CT.Conclusions Compared with 131I-WBS,131I SPECT/CT could provide more accurate positioning and qualitative information for 131I treatment and is more accurate in re-staging and risk stratification.

Objective To conduct a single-center retrospective analysis on the distribution characteristics and prevalence of idiopathic membranous nephropathy (IMN) patients diagnosed with pathology for the past 16 years,to investigate diagnostic and differential diagnostic value of serum antiphospholipase A2 receptor antibodies (PLA2R-Ab),and to evaluate the correlation between PLA2R-Ab and clinical disease activity.Methods (1) 6996 biopsy-proven primary glomerular nephropathy (PGN) patients,including 1567 IMN cases,admitted to the First Affiliated Hospital of Xi'an Jiaotong University from January 2000 to December 2015 were involved.Demographics and pathological type were gathered from all patients.(2) 433 cases receiving renal biopsy and testing PLA2R-Ab from June 2015 to December 2015 were involved,with their clinical and laboratorial data being collected.During the period patients' follow-up time,therapeutic schedule and laboratory results were recorded.Results (1) IMN accounted for 22.4％ of primary glomerular disease,and patients above 40 years old accounted for more than 60％ of the IMN.(2) The sensitivity and specificity of serological PLA2R-Ab were 58.1％(95％CI 47.0％-68.5％) and 98.6％(95％CI 95.6％-99.6％) respectively.PLA2R-Ab positive rate was affected by immunosuppression therapy.(3) The PLA2R-Ab titers wasn't correlated with 24-hour urinary protein (r=-0.017,P=0.887),serum albumin (r=-0.072,P=0.549) and urinary red blood cell count (r=-0.030,P=0.802).There was no difference between PLA2R-Ab positive positive and PLA2R-Ab negative on proportion of IMN pathological stage Ⅰ-Ⅱ (P ＞ 0.05).Thirteen cases of patients with PLA2R-Ab positive were all prescribed glucocorticoid combined with immunosuppressant.After (2.21± 1.09) months,the decrease of PLA2R-Ab titers was in accordance with 24-hour urinary protein quantity descending and serum albumin ascending (P ＜ 0.05).Condusions The incidence of IMN increase year by year,especially in the mid-aged and the elderly.Serum PLA2R-Ab correlates not with IMN pathological stage,but with the development of IMN.Monitoring PLA2R-Ab titers individually may access the efficiency of treatment.