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*

Japanese encephalitis is an acute central nervous system infectious disease caused by Japanese encephalitis virus (JEV) with brain parenchyma inflammation, characterized by high fever, headache, positive meningeal irritation, impaired consciousness, convulsion, and respiratory failure, with mortality rate as high as 20%-30%, and with neurological sequelae in 30%-50% of survivors. The mechanism of brain damage caused by JEV infection is still unclear, and some studies imply its close relation with immune-inflammatory response. This article reviews the research progress on immune-inflammatory response mechanism of Japanese encephalitis to help to understand its pathogenesis.

Modified electroconvulsive therapy(MECT)has a good therapeutic effect on major depressive disorder(MDD),but its mechanism of action is still unclear.In recent years,accumulated studies have confirmed the effects of MECT on brain structure and function using neuroimaging techniques and large datasets obtained through global collaborations and the conclusions are becoming increasingly consistent.For example,there is an increase in gray matter volume in specific brain regions such as the hippocampus and amygdala,an increase in white matter microstructural integrity and normalization of brain functional connections associated with MDD,such as the hippocampus-amygdala-subgenual anterior cingulate cortex-prefrontal cortex network,hippocampus-thalamus-temporal cortex-parietal cortex network,etc.However,the relationship between these changes and the mechanism of MECT action still needs further investigation.This review provides an overview of the research progress on the structural and functional changes of the brain by MECT to provide methodological support and theoretical basis for its better application in clinical diagnosis and treatment.

Objective To investigate the influence of different fractions of inspired oxygen used in non-invasive mechanical ventilation on blood gas parameters and serum high mobility group box-1(HMGB1)and interleukin-27(IL-27)levels in patients with acute exacerbation of chronic obstructive pulmonary disease(AECOPD)and type Ⅱ respiratory failure.Methods A total of 152 patients with AECOPD and type Ⅱ respiratory failure were selected as the subjects of the study and divided into group A(n=76)and group B(n=76)using a random number table method.The fraction of in-spired oxygen used in non-invasive mechanical ventilation in the group A was 45％,while was 60％in the group B.The changes in blood gas parameters,serum HMGB1 and IL-27 levels at different time points were compared between the groups;the occurrence of complications during treatment was recor-ded.Results After 7 days of treatment,the arterial oxygen partial pressure[pa(O2)]and pH levels in the group A were significantly higher than those in the group B,while the arterial carbon dioxide partial pressure[pa(CO2)]level was significantly lower than that in the group B(P＜0.05).After 1 day and 7 days of treatment,the serum HMGB1 and IL-27 levels in the group A were significantly lower than those in the group B(P＜0.05).During the treatment period,there was no significant difference in the overall incidence of complications between the two groups(P＞0.05).Conclusion Compared with 60％inhaled oxygen concentration,AECOPD patients with type Ⅱ respiratory failure receiving non-invasive mechanical ventilation with an inhaled oxygen concentration of 45％have better clinical outcomes.The patients'blood gas indicators,serum HMGB1 and IL-27 levels are significantly im-proved,and the treatment is relatively safe.

Objective To investigate the influence of different fractions of inspired oxygen used in non-invasive mechanical ventilation on blood gas parameters and serum high mobility group box-1(HMGB1)and interleukin-27(IL-27)levels in patients with acute exacerbation of chronic obstructive pulmonary disease(AECOPD)and type Ⅱ respiratory failure.Methods A total of 152 patients with AECOPD and type Ⅱ respiratory failure were selected as the subjects of the study and divided into group A(n=76)and group B(n=76)using a random number table method.The fraction of in-spired oxygen used in non-invasive mechanical ventilation in the group A was 45％,while was 60％in the group B.The changes in blood gas parameters,serum HMGB1 and IL-27 levels at different time points were compared between the groups;the occurrence of complications during treatment was recor-ded.Results After 7 days of treatment,the arterial oxygen partial pressure[pa(O2)]and pH levels in the group A were significantly higher than those in the group B,while the arterial carbon dioxide partial pressure[pa(CO2)]level was significantly lower than that in the group B(P＜0.05).After 1 day and 7 days of treatment,the serum HMGB1 and IL-27 levels in the group A were significantly lower than those in the group B(P＜0.05).During the treatment period,there was no significant difference in the overall incidence of complications between the two groups(P＞0.05).Conclusion Compared with 60％inhaled oxygen concentration,AECOPD patients with type Ⅱ respiratory failure receiving non-invasive mechanical ventilation with an inhaled oxygen concentration of 45％have better clinical outcomes.The patients'blood gas indicators,serum HMGB1 and IL-27 levels are significantly im-proved,and the treatment is relatively safe.

Objective:To explore and compare the value of radiomic features based on 18F-fluorodeoxyglucose (FDG) PET and CT in distinguishing epidermal growth factor receptor (EGFR) mutation status in patients with lung adenocarcinoma. Methods:Pretreatment 18F-FDG PET/CT images and EGFR gene status of 114 patients (64 males and 50 females, aged range: 35-84 (average age: 61) years) with primary lung adenocarcinoma between January 2017 and December 2017 were retrospectively collected. The volume of interest was drawn manually slice by slice, then the features were extracted by the LIFEx software. The parameters were screened by least absolute shrinkage and selection operator (LASSO) method for 200 times, and ten-fold cross-validation was used to select the best tuning parameter λ. Three models, namely M PET, M CT, M PET+ CT, were constructed by binary logistic stepwise regression. The receiver operating characteristic (ROC) curve was generated and the corresponding area under the curve (AUC), sensitivity, specificity and accuracy were calculated. The AUCs of three models were compared by Delong test. Results:Totally, 53.51%(61/114) patients were with wild type EGFR and 46.49%(53/114) patients had EGFR mutation. There were 3, 3, 7 parameters selected to form M PET, M CT, M PET+ CT, respectively. The AUCs for M PET, M CT, M PET+ CT were 0.730, 0.752 and 0.866 respectively. When the cut-off values were 0.427, 0.522, 0.378 for M PET, M CT and M PET+ CT, the Youden index were up to the maximum as 0.420, 0.405, 0.630, with sensitivities of 83.0%(44/53), 58.5%(31/53), 92.5%(49/53), specificities of 59.0%(36/61), 82.0%(50/61), 70.5%(43/61) and accuracies of 70.2%(80/114), 71.1%(81/114), 80.7%(92/114), respectively. There was no significant difference between AUC of M PET and M CT ( z=-0.320, P>0.05). The differences of AUCs between M PET+ CT and M PET, M PET+ CT and M CT were statistically significant ( z values: 2.963, 2.523, both P<0.05). Conclusions:PET, CT and PET+ CT radiomic features are all associated with EGFR gene expression in lung adenocarcinoma. M PET+ CT has the highest predictive efficiency.

Objective:To evaluate the efficacy and safety profile of ixazomib/lenalidomide/dexamethasone (IRd) in Chinese patients with relapsed/refractory multiple myeloma (MM) .Methods:This study comprising 14 medical centers in China included patients with relapsed/refractory MM who received at least. Ixazomib at an initial oral dose of 4 mg was administered. Seven patients had dose adjustment to 3 mg at the time of first dose. The lenalidomide doses were adjusted according to creatinine clearance rate. The efficacy and safety were evaluated every cycle.Results:In the study cohort of 74 patients, the median age was 65 years and 11 (14.9% ) patients received over three lines of therapy. Overall response rate (ORR) was 54.1% (40/74) , and 7 (9.5% ) , 14 (18.9% ) , and 19 (25.7% ) patients achieved stringent complete response or complete response, very good partial response, and partial response, respectively. The median progression-free survival and overall survival were 9.9 and 20 months, respectively. The median time to response was 1 month. The efficacy and survival outcome were similar to those reported in the Tourmaline-MM1 China Continuous Study. The ORR of patients refractory to bortezomib, lenalidomide, and bortezomib plus lenalidomide were 52.0% (13/25) , 57.1% (4/7) , and 33.3% (6/18) , respectively. The rate of grade 3-4 adverse events was 36.5% (27/74) . Common hematological toxicities were anemia, thrombocytopenia, lymphopenia, and neutropenia. Common non-hematological toxicities were fatigue, gastrointestinal symptoms, and infections. Two cases of grade 3 peripheral neuropathy were reported. The patients eligible for the Tourmaline-MM1 China Continuous Study had a higher ORR than the ineligible patients [77.8% (14/18) vs 46.4% (26/56) , P=0.020]. There was no difference in the rate of grade 3-4 adverse events [33.3% (6/18) vs 37.5% (21/56) , P=0.749]. Conclusion:The IRd regimen had good efficacy and acceptable toxicity in Chinese patients with relapsed/refractory MM.

Objective:To discuss the value of ultrasound in the diagnosis of pelvic lipomatosis and analyze the causes of misdiagnosis.Methods:A retrospective analysis of 68 cases of pelvic lipomatosis confirmed by operation or imaging in Peking Union Medical College Hospital from January 2000 to December 2018 was made to summarize the characteristics of ultrasonic manifestations.Results:Ultrasonographic findings were as follows: 6 cases (8.8%) had increased fat-like hyperecho in pelvic cavity; 60 cases (88.2%) had abnormal bladder; 42 cases (61.7%) had pyelectasis and 24 cases (35.3%) had ureterectasis. Of the 68 cases, 6 cases (8.8%) were correctly diagnosed; 54 cases (79.4%) were missed; 8 cases (11.8%) were misdiagnosed, including 7 cases (10.3%) of bladder tumor and 1 case (1.5%) of retroperitoneal giant mass.Conclusions:Pelvic lipomatosis has characteristic sonographic features.When urinary tract obstruction and bladder wall thickening are observed, pelvic lipomatosis should be considered. Bladder shape and existence of increasing fat-like hyperecho in the pelvis should be further scanned to reduce the misdiagnosis rate of pelvic lipomatosis.

Objective: To improve the understanding of idiopathic hypereosinophilic syndrome (HES) and to be aware of its potential of transforming to acute myeloid leukemia (AML). Methods: The clinical data of one patient diagnosed with HES progressed to AML in the 923rd Hospital of the People's Liberation Army Joint Service Support Force were analyzed, and relevant literatures were reviewed. Results: The patient was diagnosed with idiopathic HES that progressed to AML with FIP1-like-1-platelet-derived growth factor receptor α (FIP1L1-PDGFRA) after 2 years. The patients achieved complete remission after the treatment of chemotherapy combined with tyrosine kinase inhibitor and then received hematopoietic stem cell transplantation. The patient had more than 1 year disease-free survival until the deadline. Conclusion Idiopathic HES has the potential to transform to AML with FIP1L1-PDGFRA fusion gene positive, therefore regular follow-up should be emphasized.

Objective To analyze the biological characteristics of clinical isolates of coxsackievir-us A6 (CVA6), a pathogen of hand,foot and mouth disease (HFMD), and to provide reference for vaccine development. Methods CVA6 strains were isolated from 21 stool and throat swab specimens of patients with HFMD in Yunnan Province and then identified. Their growth characteristics, plaque morphology and virulence to suckling mice were analyzed. Results Five CVA6 strains, named CVA6-129, CVA6-113, CVA6-57, CVA6-94 and CVA6-162, were isolated and all belonged to D3 subtype. Only the CVA6-129 strain could proliferate rapidly in Vero and KMB17 cells and the proliferation peaked 30 h after inoculation. The infectious titer of the CVA6-129 strain was 7. 54 lgCCID50 (50％ cell culture infective dose) / ml in KMB17 cells. Different morphologies of plaques were formed by the CVA6-129 strain in Vero and KMB17 cells at the same time points, which were small and round with clear edges in Vero cells, and large and irregular with blurry edges in KMB17 cells. Suckling mice were susceptible to CVA6 via intramuscular and intraperito-neal injection. The most common symptoms in infected suckling mice were reduced mobility, hind limb pa-ralysis and quadriplegia. CVA6 infection could result in death in severe cases. Conclusions This study isolated five CVA6 strains from a number of clinical samples of suspected HFMD cases, of which the CVA6-129 strain showed potential as a vaccine candidate.