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*

The aim of this study is to investigate the effects of Gynostemma pentaphyllum dried with two different methods(air drying and heating) on inflammation in acute lung injury(ALI) mice in vivo and in vitro. Lipopolysaccharide(LPS) was sprayed into the airway of wild type C57BL/6J male mice to establish the model, and the drug was injected into the tail vein 24 h after modeling. Lung function, lung tissue wet/dry weight(W/D) ratio, the total protein concentration, interleukin 6(IL-6), IL-1β, and tumor necrosis factor-α(TNF-α) in the bronchoalveolar lavage fluid(BALF), and pathological changes of the lung tissue were used to evaluate the effects of different gypenosides on ALI mice. The results showed that total gypenosides(YGGPs) and the gypenosides substituted with one or two glycosyl(GPs_(1-2)) in the air-dried sample improved the lung function, significantly lowered the levels of IL-1β and TNF-α in BALF, and alleviated the lung inflammation of ALI mice. Moreover, GPs_(1-2) had a more significant effect on inhibiting NO release in RAW264.7 cells. This study showed that different drying methods affected the anti-inflammatory activity of G. pentaphyllum, and the rare saponins in the air-dried sample without heating had better anti-inflammatory activity.
Male ; Mice ; Animals ; Tumor Necrosis Factor-alpha/metabolism* ; Gynostemma ; Mice, Inbred C57BL ; Lung ; Anti-Inflammatory Agents/metabolism* ; Interleukin-6/metabolism* ; Interleukin-1beta/metabolism* ; Lipopolysaccharides/pharmacology*

Objective:To investigate the effects of esketamine on the behavior of post-traumatic stress disorder(PTSD).Methods:Thirty-six adult male SD rats were randomly divided into three groups. The mouse craniocerebral trauma model was established by cortical impact injury method. The Sham group ( n=12) only opened the bone window without craniocerebral trauma. The TBI group( n=12) and the TBI+ ES group( n=12) were subjected to cortical trauma; Immediately after trauma, the TBI+ ES group was intraperitoneally injected with esmketamine (10 mg/kg, once every two hours, three times in total), and the TBI group and Sham group were intraperitoneally injected with equal volume 0.9% sodium chloride solution. The results of sugar water preference test, open field test on day 16 and elevated cross maze test on day 17 were collected to analyze PTSD like behavior changes, and Morris water maze test was used to evaluate the learning and memory ability of rats in each group from day 18 to 23 after craniocerebral trauma. After the experiment, the rats were euthanized and the brain tissues were taken. The expression levels of brain-derived neurotrophic factor (BDNF), synaptic protein PSD95 and synaptophysin (Syp) were analyzed by Western blot. The measurement data of normal distribution were expressed as mean ± standard deviation ( ± s). One way ANOVA was used for multi group comparison, SNK- q test was used for post pairwise comparison, and LSD method was used for repeated measurement data. Results:In the TBI group, the preference rate of sugar water, the number of moving grids, the number of standing upright, the residence time of open arm, the number of open arm entry, the escape latency and the number of crossing platform [(75.8±4.9)%, (30.9±4.1) grids, (12.4±2.6) times, (40.3±8.5) s, (6.8±2.3) times, (30.0±4.6) s and (7.0±2.5) times] were significantly lower than Sham group [(85.3±4.4)%, (40.5±5.4) grid, (17.3±2.7) times, (95.8±12.4) s, (15.3±3.1) times, (18.3±7.8) s, (15.7±2.6) times] ( P< 0.05); In TBI+ ES group, the sugar water preference rate, the number of moving grids, the number of upright times, the time of open arm stay, the number of open arm entry, the number of escape latency and the number of crossing platform position [(82.9±5.5)%, (35.5±5.5) grids, (15.1±2.4) times, (68.4±9.7) s, (12.1±3.2) times, (22.3±8.8) s and (12.5±4.1) times] were significantly higher than those in TBI group ( P<0.05). The expression levels of BDNF, PSD95 and Syp in TBI+ ES Group [0.43±0.08), (0.22±0.02), (0.31±0.04)] were higher than those in TBI group [0.19±0.02), (0.20±0.02), (0.24±0.01)], the difference was significant ( P<0.05), and they were lower than those in Sham group [0.89±0.11), (0.45±0.12), (0.57±0.15)], and the difference was significant ( P<0.05). Conclusion:Esticketamine significantly reduce PTSD-like behavior in TBI rats and play a neuroprotective role, which may be a potential medicinefor PTSD treatment.

OBJECTIVE: To explore the clinical feature, diagnosis and phenotype of Majeed syndrome. METHODS: Clinical manifestation, diagnostic process, imaging feature and genetic testing of an ethnic Han Chinese patient with Majeed syndrome were reviewed. RESULTS: The patient, a 3-year-9-month-old boy, had featured psychomotor retardation and developed bone pain from 8 month on. The child had tenderness of the lower limbs and presented with repeatedly joint swelling and pain accompanied by fever. Physical signs included limb muscle weakening, slightly decreased muscle tone, reduced muscle volume and positive Gower sign. High-throughput sequencing revealed that the child has carried compound heterozygous variants of the LPIN2 gene, including c.1966A>G and c.2534delG. MRI showed multiple lesions in bilateral knee joints and distal middle tibia presenting as patchy SPAIR high signals with unclear edge, in addition with edema of soft tissue surrounding the right distal femur. CONCLUSION Majeed syndrome is characterized by chronic and recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and growth retardation. Surrounding muscle tissue of osteomyelitis may also be involved. The syndrome may also affect the central nervous system, resulting in delayed language and motor development. Discovery of multiple pathological variants of the LPIN2 gene suggested that the clinical phenotype of this syndrome may vary between patients to some extent.
Anemia, Dyserythropoietic, Congenital/genetics* ; Child ; Genetic Testing ; Humans ; Immunologic Deficiency Syndromes/genetics* ; Infant ; Male ; Osteomyelitis/genetics*

OBJECTIVE: To summarize the clinical phenotype and genotype of a Chinese child affected with Mowat-Wilson syndrome (MWS). METHODS: Clinical data of the patient were collected. The patient was analyzed by whole-exome sequencing (WES) as well as Sanger sequencing. RESULTS: The patient was a male infant with recurrent fever and slow growth. He also had characteristic facies, recurrent spasm, and growth retardation. WES revealed that he has carried a heterozygous nonsense c.2609C>G (p.Ser870X) variant of the ZEB2 gene (30% mosaicism). Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+PS1+PS2+PM2). CONCLUSION The c.2609C>G variant of the ZEB2 gene probably underlay the MWS in this child. The mosaicism of the variant may explain his mild symptoms.
Child ; Facies ; Hirschsprung Disease/genetics* ; Humans ; Infant ; Intellectual Disability/genetics* ; Male ; Microcephaly/genetics* ; Mutation

Objective To analyze the epidemiological characteristics and seasonal distribution of hand, foot and mouth disease (HFMD) in a suburban town in Shanghai from 2012 to 2018, and to provide a scientific basis for formulating effective prevention and control strategies. Methods The incidence data of a suburban town in Shanghai from 2012 to 2018 was collected through the Chinese disease prevention and control information system and analyzed by descriptive epidemiological methods. Results From 2012 to 2018, a total of 538 cases of hand, foot and mouth disease were reported in the suburban town in Shanghai, with an average annual incidence of 186.27/100,000. The difference in incidence between each year was statistically significant (χ²=107.95, P<0.05). The age of onset was mainly children under 5 years old. Peak incidence was from May to September. The main occupation was scattered children. HFMD outbreaks mainly occurred in nurseries and schools, accounting for 60.53% of the total number of outbreaks. Conclusion From 2012 to 2018, the incidence of HFMD in a suburban town in Shanghai had a certain seasonality. It is recommended to implement preventive measures against HFMD for key populations and key places before the high incidence period to reduce the occurrence of severe cases and epidemic situations.

OBJECTIVE： To study the relationships of polymorphism of MTRR gene rs1801394 locus and SLCO1B1 gene rs11045879 locus with drug concentration of methotrexate （MTX） and high-dose MTX （HD-MTX）-induced ADR in acute lymphoblastic leukemia （ALL） children. METHODS： From Oct. 2015 to Sept. 2018， 70 ALL hospitalized children of Han nationality in Sichuan area who received HD-MTX treatment and were in consolidation chemotherapy were selected retrospectively from Sichuan People’s Hospital. The blood concentration of MTX at 48 and 72 hours after administration was measured by EMIT. The genetic typing of MTRR gene rs1801394 locus and SLCO1B1 gene rs11045879 locus were detected with real-time PCR. The relationships of the polymorphism of MTRR gene and SLCO1B1 gene with MTX blood concentration [dose-corrected concentration （c48 h/D，48 h）， the proportion of children with different concentration of MTX （≤0.1， ＞0.1 μmol/L）] and ADR （such as myelosuppression， liver function damage， gastrointestinal response， mucosal damage， rash， etc.） were analyzed. Binary Logistic regression analysis for the correlation of ADR with different influencing factors （gene polymor- phism， blood concentration of MTX， immunophenotyping， body mass index， etc.） was carried out by Wald method. RESULTS： Totally 31， 32， 7 children with MTRR gene AA， AG and GG genotype， while 23， 37， 10 children with SLCO1B1 gene TT， TC and CC genotype were detected. The distribution of each genotype in 70 children conformed to Hardy-Weinberg equilibrium （P＞0.05）. There was no significant difference in c48 h/D（48 h） of children and the proportion of children with different concentration of MTX （72 h） among difterent genotypes of MTRR and SLCO1B1 gene （P＞0.05）. There was statistical significance in the incidence of liver function injury in children with different genotypes of MTRR gene （P＜0.05）， and the AA genotype was significantly higher than the AG+GG genotype （P＜0.05）. There was no correlation of MTRR gene polymorphism with the incidence of other ADR， neither SLCO1B1 gene polymorphism with the incidence of ADR （P＞0.05）. The results of Binary Logistic regression analysis showed that liver function damage in ALL children was related to the gene polymorphism of MTRR； gastrointestinal reaction was related to whether the plasma concentration was more than 0.1 μmol/L at 72 h； mucosal damage was related to the immune type and BMI of children； the occurrence of skin allergy was correlated with body weight of children（P＜0.05）. CONCLUSIONS： Gene polymorphism of MTRR rs1801394 locus may associated with the occurrence of HD-HTX-induced liver function injury in ALL children， but its polymorphism and gene polymorphism of SLCO1B1 rs11045879 locus are not related to MTX blood concentration in ALL children.

BACKGROUND: The effectiveness and safety of traditional Chinese medicine treatment for chronic obstructive pulmonary disease (COPD) have been preliminarily approved by clinical practices.OBJECTIVE: To investigate the effects of Gubenkeli capsule on the protein expression of matrix metalloproteinase 9 (MMP-9) and tissue inhibitor of metalloproteinase1 (TIMP-1) in lung tissue of COPD model rats.METHODS: A total of 50 Wistar rats were randomly divided into five groups with 10 rats in each group: normal control, model, prednisone, Gubenkeli capsule-low dose, and Gubenkeli capsule-high dose. COPD rat models were established in all rats with the exception of the normal control rats by smoking and intratracheal instillation of LPS. At 29 days after COPD induction, rats from the prednisone, Gubenkeli capsule-low dose, Gubenkeli capsule-high dose groups were intragastrically administered prednisone (1.04 mg/kg per day), Gubenkeli capsule (0.4, 0.94 g/kg per day), once a day, to observer rat general conditions. Protein expression of MMP-9 and TIMP-1 in the lung tissue was detected by immunohistochemical methods. RESULTS AND CONCLUSION: Protein expression of MMP-9 and TIMP-1 in the lung tissue of COPD rats was significantly increased (P < 0.05). After drug intervention, the general conditions of COPD rats were greatly improved, and protein expression of MMP-9 and TIMP-1 in the lung tissue was decreased. Prednisone yields the strongest effects, followed by high-dose Gubenkeli capsule and low-dose Gubenkeli capsule. These findings demonstrate that Gubenkeli capsule alleviates the clinical manifestations of COPD model rats, improve airway remodeling, and correct the imbalance between prolease and antiprotease in a dose-response manner.

A molecularly imprinted polymer (MIP) using benzoic acid as template molecule, 4-vinyl pyridine (4-VP) as functional monomer, ethylene dimethacrylate (EDMA) as cross-linker, was prepared by bulk polymerization. The needle-type gas concentrator was developed using the MIP as adsorption medium. The device was coupled with gas chromatography (GC) for the analysis of volatile organic compounds (VOCs). The effect of polymerization conditions on adsorption property, such as polymerization time, ratio of the reagents, pre-polymerization time, type of solvents, type of template molecules, has been evaluated. The results of gas chromatographic analysis demonstrated that the optimum conditions for getting the best adsorption performance of the synthesized were polymerization time 6 h at 60 ℃, the ratio of the reagents (template molecule : functional monomer : cross-linker) 1∶ 4∶ 20, pre-polymerization time of 3 h, acetonitrile as solvent, benzoic acid as template.

OBJECTIVETo explore breeding method and breed new varieties of Erigeron breviscapus.

METHODSuperior individual were selected from natural outcrossing population of E. breviscapus, lines and strains were established and selected and compared.

RESULTThe scutellarin contents of two E. breviscapus strains of 2003-15 and 2003-6 through line breeding were 3.21% and 3.01%, respectively, and increased 15.77% and 23.46% comparing with the control strain (QS-1), respectively, the yield increased 20.37% and 17.59%, scutellarin yield per hectare enhanced 39.31% and 44.82%.

CONCLUSIONNew varieties of E. breviscapus can be bred through lines breeding.