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*

Objective:To investigate the pathogenic gene locus and prenatal genetic diagnosis of 54 families with oculocutaneous albinism (OCA).Methods:This retrospective study enrolled 54 OCA probands and their families from Gansu Province Maternal and Child Health Care Hospital from May 2014 to May 2020. TYR gene variation screening was performed on the probands by Sanger sequencing. Those with negative results were analyzed by high-throughput sequencing, and further verification was performed on their parents by Sanger sequencing. Among the 54 families, 15 ml amniotic fluid were collected from 16 women at 18-21 gestational weeks in their subsequent pregnancy. Sanger sequencing combined with short tandem repeats sequence for linkage analysis were performed for genetic analysis. All data were analyzed using descriptive statistical analysis. Results:Out of the 54 OCA probands, 48 were diagnosed as OCA1, five were OCA2 and one was OCA4 based on the Sanger sequencing and high-throughput sequencing detection. A total of 26 different variation sites were involved in the 48 OCA1 probands, including 15 missense mutations, five nonsense mutations, three splicing mutations, and three frame-shift mutations, among which, c.929insC (29%, 28/96) was the most frequent mutation, followed by c.896G>A (11%, 11/96), c.832C>T (8%, 8/96) and c.703T>C (5%, 5/96). The diagnosis was confirmed in all 16 fetuses in the 16 families that underwent prenatal diagnosis. Five of them were affected and their mothers chose to terminate the pregnancies, the other 11 pregnancies continued to delivery, including seven heterozygous carriers and four fetuses without the same pathogenic allele as the proband. Maternal contamination was excluded in all prenatal samples using short tandem repeat for linkage analysis. All 11 children were in good health during telephone follow-up one month after birth. Postnatal validations were consistent with the prenatal tests.Conclusions:Genetic diagnosis could accurately identify various types of OCA and help to provide prenatal diagnosis and fertility consultation for subsequent pregnancies.

Objective: To compare the accuracies of quantitative computed tomography (CT) parameters and semiquantitative visualscore in evaluating clinical classification of severity of coronavirus disease (COVID-19). Materials and Methods: We retrospectively enrolled 187 patients with COVID-19 treated at Tongji Hospital of Tongji MedicalCollege from February 15, 2020, to February 29, 2020. Demographic data, imaging characteristics, and clinical data werecollected, and based on the clinical classification of severity, patients were divided into groups 1 (mild) and 2 (severe/critical). A semiquantitative visual score was used to estimate the lesion extent. A three-dimensional slicer was used toprecisely quantify the volume and CT value of the lung and lesions. Correlation coefficients of the quantitative CT parameters,semiquantitative visual score, and clinical classification were calculated using Spearman’s correlation. A receiver operatingcharacteristic curve was used to compare the accuracies of quantitative and semi-quantitative methods. Results: There were 59 patients in group 1 and 128 patients in group 2. The mean age and sex distribution of the two groupswere not significantly different. The lesions were primarily located in the subpleural area. Compared to group 1, group 2 hadlarger values for all volume-dependent parameters (p < 0.001). The percentage of lesions had the strongest correlation withdisease severity with a correlation coefficient of 0.495. In comparison, the correlation coefficient of semiquantitative scorewas 0.349. To classify the severity of COVID-19, area under the curve of the percentage of lesions was the highest (0.807;95% confidence interval, 0.744–0.861: p < 0.001) and that of the quantitative CT parameters was significantly higher thanthat of the semiquantitative visual score (p = 0.001). Conclusion The classification accuracy of quantitative CT parameters was significantly superior to that of semiquantitativevisual score in terms of evaluating the severity of COVID-19.

Objective:To investigate the value of texture analysis based on T 2WI and apparent diffusion coefficient (ADC) maps in discriminating low grade from high grade prostate cancer (PCa). Methods:Retrospective analysis was performed on patients who were confirmed to be PCa by pathology after surgery and underwent MRI examination in the department of radiology,Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology before radical surgery, including routine T 1WI, T 2WI and diffusion weighted imaging (DWI) sequences. 3D data analysis module of the MaZda software was used to manually draw region of interest (ROIs) slice by slice on T 2WI and ADC images, and generate volume of interest (VOI) of the entire tumor. MaZda software was also used to extract texture features. The independent sample t test or Mann-Whitney U test were used to identify the texture features with statistically significant differences between low and high grade PCa groups. Lasso regression model was used to select the best combination of texture features for identifying low and high grade PCa, and then the model was built. The receiver operating characteristic (ROC) curve was used to evaluate the diagnostic performance of the model in both training cohort and test cohort. Results:The best texture feature combination selected by Lasso regression model were the S (1, 0, 0) correlation of T 2WI and the S (1, 0, 0) correlation, S (1, -1, 0) sum entropy and vertical-run length nonuniformity of ADC maps. The area under the ROC curve (AUC) of the model in training cohort was 0.823, and the sensitivity and specificity were 70.4% and 80.8%, respectively, which were better than the single texture feature. The AUC of the model in test cohort was 0.714, which was worse than training cohort. Conclusion:The texture analysis of T 2WI and ADC maps is valuable for the identification of low and high grade PCa.

Objective To explore the safety and efficacy of intrathecal administration of adipose stem cells de-rived from bioactive secretome (ASCBS)in treatment of whiter matter injury (WMI)in the preterm infants. Methods Sixty - three cases of WMI were recruited according to the uniform standards from multiple medical centers and they were divided into 3 gestational age (GA)subgroups,which were 21 cases in group A (GA 24 - 28 + 6 ),20 cases in group B (GA 29 - 32 + 6 ),and 22 cases in group C (GA 33 - 36 + 6 ). The patients were randomly divided into treatment groups and control groups by tossing coins. The treatment groups received lumbar puncture followed with ASCBS intra-thecal injection once daily for 3 consecutive days. Follow - up study included Neonatal Behavioral Neurological Assess-ment (NBNA)at term - equivalent age and neurodevelopment at corrected age of 6 - month. Neurodevelopment was assessed by using the Bayley Scales of Infant Development and Peabody Developmental Motor Scale. The survival rates, NBNA scores,mental development index (MDI),psychomotor develop index (PDI),total motor development quotient, gross motor development quotient and fine motor development among each subgroup were compared. Results Sixty -three cases were recruited,including 31 in the treatment group and 32 in the control group. Only 1 case in the treatment groups lost in the follow - up. No clinical side effects were found in the treatment groups. There was no significant diffe-rence in the survival rate and complication in the preterms in all subgroups of the treatment group and control group (all P > 0. 05). The gross and total motor development quotient in the treatment group A was higher than that in the control group A(gross motor development quotient:98. 330 ± 6. 282 in treatment group A,90. 330 ± 3. 777 in control group A, P = 0. 040;total motor development quotient:97. 330 ± 4. 803 in treatment group A,91. 000 ± 4. 472 in control group A,P = 0. 023). The rest findings showed no significant difference between groups. Conclusion The treatment of WMI in preterm infants with ASCBS is safe and can promote the motor development of preterm infants with GA in 24 - 28 weeks.

Objective To access the diagnostic value of Prostate Imaging Reporting and Data System (PIRADS version 2)for prostate cancer (PCa) in prostate specific antigen (PSA) grey zone(4-10 ng/mL).Methods Treatment naive PCa and BPH patients with an increase of PSA 4-10 ng/mL from 2200 patients underwent prostate MRI from 2012 to 2016 were included,multiparameter magnetic resonance imaging (mp-MRI) prior biopsy or prostatectomy and clinical data were obtained,mp-MRI were retrospectively analyzed quantitatively by a radiology expert with 15 years experience in urogenital system imaging diagnosis and a doctor with 5 years experience in radiology diagnosis blind to the pathology results according to PIRADS v2,PIRADS v2 score and lesion zone were recorded respectively,in case of disagreement,dicision was made through discuss.TRUS guided biopsy or prostatectomy pathology serves as gold reference.Diagnostic value of PIRADS v2 for PSA grey zone PCa was calculated by receiver operating characteristic (ROC) curve,logistic regression analysis was used to access the risk factors of PCa.Results 15 PCa and 30 BPH patients were in eluded.There was no significant difference between these two groups in age,tPSA,fPSA,f/tPSA,prostate volume and PSA density.The area under ROC curve of PIRADS v2 in diagnosing PCa was 0.932[95 ％ CI 0.822-0.984],P＜0.01.Using a cutoff PIRADS＞4,the diagnosis sensitivity was 88.89 ％,specificity 87.10 ％,and positive predictive value 80 ％,negative predictive value 93.10％,respectively.Logistic regression analysis showed that PIRADS v2 score was an independent risk factor for predicting PCa,with a hazard ratio 17.847[3.745-85.078],P＜0.01.There was a positive correlation between PIRADS v2score and gleason score,r=0.585,P=0.022.Conclusion PIRADS v2 has a significantly high diagnosis value in diagnosing PSA grey zone PCa and a good correlation with pathology results.

OBJECTIVETo retrospectively analyze the clinicopathology of patients with gastric gastrointestinal stromal tumor(gGIST) who underwent radical excision within 18 years in 10 domestic medical centers in order to understand the status of domestic surgical treatment of gGIST.

METHODSClinicopathological data of gGIST patients undergoing radical excision in 10 medical centers from January 1998 to January 2016 were collected, and their operational conditions, postoperative adjuvant therapy, gene detection and survival were analyzed retrospectively.

RESULTSA total of 1 846 cases were recruited in this study, including 246 cases from Guangdong General Hospital, 331 cases from Sun Yat-sen University Cancer Center, 374 cases from Union Hospital, Tongji Medical College of Huazhong University of Science and Technology, 342 cases from Nanfang Hospital of Southern Medical University, 265 cases from Fujian Medical University Union Hospital, 148 cases from Fudan University Shanghai Cancer Center, 49 cases from West China Hospital of Sichuan University, 43 cases from Peking University Cancer Hospital and Institute, 28 cases from the 81st Hospital of Pepole's Liberation Army(PLA), 20 cases from Cancer Hospital of China Medical University, Liaoning Cancer Hospital and Institute. There were 918 male (49.7%) and 928 female patients (50.3%) with median onset age of 59(18 to 95) years old. Fundus(735 cases, 39.8%) and body (781 cases, 42.3%) of stomach were the common sites of lesions. The average size of tumor was (5.3±4.6) cm. There were 1 421 cases with mitotic count ≤5(77.0%). According to the operation procedure, 924 cases (50.1%) underwent laparoscopic surgery, 759 cases (41.1%) laparotomy, 120 cases (6.5%) endoscopic surgery, and 20 cases (1.1%) laparoscopic combined with endoscopic surgery, 6 cases (0.3%) laparoscopic excision surgery through gastric wall and cavity, and 17 cases (0.9%) laparoscopy and then were transferred to laparotomy. Wedge excision were performed in 1 308 cases (70.9%), proximal gastric excision in 226 cases(12.2%), distal gastric excision in 92 cases (5.0%), total gastrectomy in 94 cases (5.1%), and local gastrectomy in 126 cases(6.8%). Multi-visceral excision was performed in 138 cases, and the splenectomy was performed in 83 cases(60.1%)with the highest ratio. According to modified NIH classification, 399 cases(21.6%) were extreme low risk, 580 cases(31.4%) were low risk, 424 cases(23.0%) were moderate risk, 443 cases (24.0%) were high risk. A total of 461 cases received postoperative imatinib adjuvant therapy, accounting for 53.2%(461/867) of patients with moderate and high risk. Among 1 846 cases, 1 402 cases (75.9%) had complete follow-up data and the median follow-up time was 33.6 (0.1 to 158) months. The 5-year survival rates of extreme low risk, low risk, moderate risk and high risk were 100%, 98.5%, 92.5%, and 79.2% with significant difference(P=0.000).

CONCLUSIONSGastric GIST occurs mostly in fundus and body of stomach in China. Wedge excision is the main operational procedure and laparoscopic operation is over 50%. General prognosis of gastric GIST is quite good.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Antineoplastic Agents ; therapeutic use ; China ; Combined Modality Therapy ; Female ; Gastrectomy ; Gastrointestinal Neoplasms ; Gastrointestinal Stromal Tumors ; pathology ; surgery ; Humans ; Imatinib Mesylate ; therapeutic use ; Laparoscopy ; Laparotomy ; Male ; Middle Aged ; Postoperative Period ; Prognosis ; Retrospective Studies ; Splenectomy ; Stomach Neoplasms ; pathology ; surgery ; Survival Rate ; Young Adult

Objective To explore the value of readout segmentation of long variable echo-trains (RESOLVE) in the differentiation of prostate cancer from benign prostatic hyperplasia (BPH).Methods Seventy two consecutive patients with suspected prostate cancer were evaluated by 3.0 T MR examination (RESOLVE sequence included,b values=0 and 800 s/mm2) were included in our retrospective study.All the patients had ultrasound guided systemic biopsy with histopathological diagnosis.The patients were divided into group A (23 prostate cancer cases with total 43 malignant lesions) and group B (49 BPH cases with total 64 benign lesions).Two radiologists who were blinded to the clinical data quantitatively analyzed the ADC values of suspicious lesions independently.Inter-reader agreement for ADC values was assessed with Bland and Altman test,and the intra-class correlation coefficient (ICC).Difference of ADC values in two groups was assessed by student's t test.Receiver operating characteristic curve (ROC) was used to determine the best predictor and cutoff value.Results A total of 107 lesions (43 malignant and 64 benign) were identified in 72 patients.ICC was 0.976,P＜0.01.The mean ADC value of prostate cancer is lower than BPH (t=19.223,P＜0.01),(0.74±0.12) × 10 3 and (1.21±0.12) × 10-3mm2/s respectively.Diagnostic cut-off point was 0.946× 10-3mm2/s,diagnostic sensitivity 95.3 ％ (41/43),specificity 98.4％ (63/64),accuracy 97.2％ (104/107).Conclusion RESOLVE ADC value is valuable in the differential diagnosis of prostate cancer and BPH.

A model of myelosuppression with thrombocytopenia was produced in monkey by i.v. administration of carboplatin to the evaluate effects of rhIL-11 treatment in monkeys. Following myelosuppression, rhIL-11 was subcutaneously injected for 19 consecutive days at the dose of 50 or 100 micro g/kg. In myelosuppressed monkeys treated with rhIL-11, peripheral blood platelet started to drop at the day 8 after the administration of carboplatin, and reaching the nadir between the day 12 - 14, the decrease in blood platelet was less severe compared with untreated monkeys; peripheral blood platelet began to recovery on day 11 - 13 (D14 - D16) after rhIL-11 treatment, and reached or surpassed the baseline value before carboplatin administration after 13 - 15 days rhIL-11 treatment. Blood platelet counts remained high level after discontinuation of rhIL-11 administration and returned to baseline after 4 days. The results demonstrated that rhIL-11 has a significant thrombopoietic activity, it can reduce the severity of thrombocytopenia as well as shorten the duration of thrombocytopenia caused by myeloablastive agents, and is likely to become an effective agent against thrombocytopenia induced by chemotherapy.

Hematological effects of rhIL-11 on normal and myelosuppressed male BALB/c mice were observed. Mice were subcutaneously injected with rhIL-11 for 7 consecutive days, at the dose of 200 or 400 micro g/kg per day, peripheral blood platelet counts were moderately elevated on 5 days after administration and returned to base level within 4 days after discontinuation of injection. In myelosuppressed mice, treatment with rhIL-11 significantly ameliorated the degree of thrombocytopenia, the recovery of thrombocytopenia was also significantly accelerated at the dose range of 100 - 400 micro g/kg per day, and blood platelet counts reached pre-irradiated level after 13 - 15 days of treatment. The magnitudes of platelet count elevation were similar among groups of 100, 200 and 400 micro g/kg per day, although recovery appeared earlier in group of 400 micro g/kg per day. Significant increases in CFU-Meg were observed both in normal and myelosuppressed mice. Our results suggest that rhIL-11 promotes the increase of peripheral blood platelets both in normal and myelosuppressed mice, and can be used as a potential therapeutic agent for thrombocytopenia induced by chemotherapy.