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 study the effects of Gouteng Jiangya Jieyu Prescription(Uncariae Ramulus cum Uncis,Gastrodiae Rhizoma,Pheretima,Puerariae Lobatae Radix,Salviae Miltiorrhizae Radix et Rhizoma,etc.)on learning and memory ability,hippocampal inflammatory response and autophagy-related protein expression in rats with hypertension complicated with depression(HD).Methods Thirty spontaneously hypertensive rats(SHR)were randomly divided into model group,positive control group(Levamlodipine Besylate 0.45 mg·kg-1+Fluoxetine Hydrochloride 1.80 mg·kg-1)and Gouteng Jiangya Jieyu Prescription high-,medium-and low-dose groups(25.38,12.69,6.34 g·kg-1).Another 6 SD rats were used as blank control group.The SHR rats were intervened by chronic mild unpredictable stress combined with solitary rearing to replicate the HD rat model.At the same time,intragastric administration was given once a day for 6 weeks.The systolic blood pressure and diastolic blood pressure of rat tail artery were measured by non-invasive sphygmomanometer.The learning and memory ability of rats was detected by Morris water maze test.The ultrastructure of hippocampal neurons was observed by transmission electron microscope.The contents of interleukin-1β(IL-1β),IL-18 and IL-10 in hippocampus were detected by ELISA.The expression of autophagy-related proteins Beclin1 and Bcl-2 in hippocampus was detected by immunohistochemistry.The expression of autophagy-related proteins LC3Ⅰ and LC3Ⅱ in hippocampus was detected by Western Blot.Results Compared with the blank control group,the SBP and DBP of the rats in the model group were significantly increased from week 1-6(P＜0.01).The escape latency was significantly prolonged on the third and fourth day(P＜0.01).The first time of crossing the platform was significantly prolonged(P＜0.01),the times of crossing the platform area was significantly reduced(P＜0.05),and the retention time of the platform area was significantly shortened(P＜0.01).The neuronal cell body was obviously swollen,the ridge was destroyed,the nucleus was shrunk,and a large number of autophagosomes appeared;the contents of IL-1β and IL-18 in hippocampus were significantly increased(P＜0.01).The ratio of LC3Ⅱ/LC3Ⅰ protein expression and the expression of Beclin1 protein in hippocampus were significantly up-regulated(P＜0.05,P＜0.01),and the expression of Bcl-2 protein was significantly down-regulated(P＜0.01).Compared with the model group,the SBP of rats in the low-dose group of Gouteng Jiangya Jieyu Prescription was significantly decreased at the weeks 1,3,4,5,6(P＜0.01),and the DBP was significantly decreased at weeks 1,3,4,5(P＜0.05,P＜0.01).The SBP of the rats in the medium-dose group of Gouteng Jiangya Jieyu Prescription was significantly decreased at weeks 1,5,6(P＜0.01),and the DBP was significantly decreased at week 4(P＜0.05).The SBP of rats in the high-dose group of Gouteng Jiangya Jieyu Prescription was significantly decreased in the first week(P＜0.01).The escape latency of rats in the high-and medium-dose groups of Gouteng Jiangya Jieyu Prescription was significantly shortened on the third day(P＜0.05),and the escape latency of rats in the high-and low-dose groups of Gouteng Jiangya Jieyu Prescription was significantly shortened on the fourth day(P＜0.05).The first crossing platform time of rats in the high-,medium-and low-dose groups of Gouteng Jiangya Jieyu Prescription was significantly shortened(P＜0.01).The times of rats crossing the platform area in the medium-and low-dose groups of Gouteng Jiangya Jieyu Prescription were significantly increased(P＜0.05),and the retention time in the platform area was significantly prolonged(P＜0.05).In the administration group,the degree of hippocampal neuron damage was reduced,the nuclear shrinkage was significantly improved,and the autophagosomes were reduced.The contents of pro-inflammatory factors IL-1β and IL-18 in the hippocampus of rats in the high-and medium-dose groups of Gouteng Jiangya Jieyu Prescription were significantly decreased(P＜0.05,P＜0.01).The content of anti-inflammatory factor IL-10 in the hippocampus of rats in the high-dose group of Gouteng Jiangya Jieyu Prescription was significantly increased(P＜0.01).The protein expression ratio of LC3Ⅱ/LC3Ⅰ in hippocampus of high-,medium-and low-dose groups of Gouteng Jiangya Jieyu Prescription was significantly down-regulated(P＜0.01),and the expression of Bcl-2 protein was significantly up-regulated(P＜0.01).The expression of Beclin1 protein in the hippocampus of the high-and medium-dose groups of Gouteng Jiangya Jieyu Prescription was significantly down-regulated(P＜0.05,P＜0.01).Conclusion Gouteng Jiangya Jieyu Prescription can reduce the tail arterial pressure of HD rats,improve their learning and memory ability,and alleviate hippocampal neuronal damage.The mechanism may be related to reducing the release of inflammatory factors,increasing the level of anti-inflammatory factors,and regulating the expression of hippocampal autophagy-related proteins LC3Ⅱ/LC3Ⅰ,Beclin1 and Bcl-2.

Objective To establish a method for determining hydrogen sulfide(H2S)in blood and apply it to practical cases.Methods A delute solution was achieved by adding 0.8 mL saturated borax solution into 0.2 mL blood sample was diluted with.1 mL acetonitrile solution containing 0.1％formic acid was then taken in a test tube,followed by adding 0.1 mL dilute solution and 0.1 mL thiozine aqueous solution(1％).After thorough mixing,the mixture was left to stand for 30 minutes.Subsequently,the sample was subjected to liquid chromatography-tandem mass spectrometry(LC-MS/MS)analysis after centrifugation and membrane filtration.Results The results showed that H2S exhibited good linearity within the concentration range of 10～2 000 ng/mL,with the R2 value of 0.998 5.The detection limit was 5 ng/mL,and the quantification limit was 10 ng/mL.In three cases of H2S poisoning,sulfur ions were detected in the blood of the deceased individuals,with concentrations ranging from 0.17 to 0.56 μg/mL.Conclusion For the first time,this study established a LC-MS/MS method for determining H2S in blood,which can meet the detection needs of H2S poisoning cases.

Objective:To compare the clinical efficacy of arthroscopic partial and complete repair for massive rotator cuff tears.Methods:A total of 32 patients who underwent arthroscopic partial repair of massive rotator cuff tears in the Department of Sports Medicine, Peking University Third Hospital from March 2016 to December 2019 were retrospectively analyzed, including 15 males and 17 females, aged 62±6.8 years (range, 51-77 years), with 5 cases on the left side and 27 cases on the right side. Cause of injury: 4 cases were injured by car accident, 8 were injured by fall, and 20 had no obvious cause. 32 patients who underwent arthroscopic complete repair of massive rotator cuff tears during the same period were included according to a sample size of 1∶1 matched based on age, sex, tear size and fat infiltration index. Clinical outcomes were evaluated using the visual analogue scale (VAS) for pain, American Shoulder and Elbow Surgeons (ASES) score, University of California Los Angeles (UCLA) shoulder score, Simple Shoulder Test (SST) score, and range of motion. Fatty infiltration and cuff healing were assessed using the Goutallier and Sugaya classifications on MRI, respectively.Results:All patients successfully completed the surgery and were followed up for 46.1±11.3 months (range, 36-72 months). Preoperative and final follow-up VAS scores were 6.6±1.8 and 1.6±1.1 in the complete repair group, and 6.4±1.9 and 1.4±1.3 in the partial repair group. Both groups showed significant postoperative improvement ( P<0.05), with no significant difference between groups at the final follow-up ( t=-0.729, P=0.468). The ASES score, UCLA shoulder score, and SST at the final follow-up were 81.7±6.5, 28.6±2.9, and 9.8±2.5, respectively, in the complete repair group, and 82.4±7.3, 28.1±2.6, and 9.1±1.9 in the partial repair group, and the difference between the groups was not statistically significant ( P>0.05). In the complete repair group, one case underwent reverse shoulder replacement for rotator cuff re-tear two years after surgery, and one case developed pseudoparalysis for rotator cuff re-tear 8 months after surgery but had no significant pain and did not receive further treatment; in the partial repair group, two cases underwent tendon transposition surgery for shoulder pain. Conclusion:Arthroscopic partial repair improves shoulder function and reduces pain in patients with massive rotator cuff tears, with similar efficacy to complete repair and has high surgical safety.

Objective:To explore the mechanism of peritoneal dialysis solution (PDS)-induced peritoneal microinflammation through activation of ceramide (CER) in peritoneal dialysis model mice.Methods:Thirty 5-week-old male C57BL/6 mice weighing about 22 g were used to set up peritoneal dialysis models, and then were randomly divided into 4 groups: sham operation group (1.5 ml sterilized water, n=7), high glucose-PDS group (1.5 ml 4.25% PDS, n=8), high glucose-PDS+ acid sphingomyelinase (ASMase) inhibitor desipramine (DES) group (1.5 ml sterilized water+10 mg/kg DES, n=8), high glucose-PDS+Src kinase inhibitor PP2 group (1.5 ml sterilized water +1 mg/kg PP2, n=7), with intraperitoneal injection once a day. After 28 days, the mice were sacrificed to retain peritoneal tissues. HE staining and Masson staining were used to observe the histological changes of peritoneum. Immunohistochemistry was used to detect the Toll-like receptor 4 (TLR4) and macrophages. High performance liquid chromatography, liquid chromatography/mass spectrometry and immunofluorescence were used to detect the expression of ASMase and CER. Real-time quantitative PCR was used to detect the mRNA levels of c-Src, p-Src, interleukin-6 (IL-6), and tumor necrosis factor-α (TNF-α). Western blotting was used to detect the protein levels of c-Src, and p-Src. Enzyme-linked immunosorbent assay was used to detect the serum C reactive protein (CRP), IL-6 and TNF-α. Results:(1) High glucose-PDS led to peritoneal hyperplasia, collagen deposition and fibrosis in the peritoneal dialysis mice, indicating successful modeling. Compared with high glucose-PDS group, peritoneal hyperplasia, collagen deposition and fibrosis of mice treated with DES and PP2 were significantly improved (all P<0.05). (2) Compared with sham operation group, ASMase activation and CER level of peritoneal tissues were significantly higher in high glucose-PDS group, and DES could significantly inhibit activated ASMase and increased CER expression caused by high glucose-PDS (both P<0.05). PP2 had no significant effect on ASMase activation and CER level (both P>0.05). (3) Compared with sham operation group, there were more TLR4 and macrophage positive staining cells in peritoneal tissues in high glucose-PDS group, and the mRNA expression levels of IL-6 and TNF-α in peritoneal tissues and serum CRP, IL-6 and TNF-α were higher (all P<0.05). DES and PP2 could significantly inhibit the increased TLR4, macrophages and related inflammatory factors induced by high glucose-PDS (all P<0.05). (4) Compared with sham operation group, c-Src and p-Src mRNA and protein expression levels of peritoneal tissues in high glucose-PDS group were significantly higher (all P<0.05). PP2 significantly inhibited the increased p-Src mRNA and protein levels caused by high glucose-PDS (both P<0.05), but had no significant effect on the mRNA and protein expression levels of c-Src (both P>0.05). DES had no significant effect on the mRNA and protein expression levels of c-Src and p-Src (all P>0.05). Conclusions:High glucose-PDS may enhance the expression of CER through stimulating the activity of ASMase, phosphorylate Src, activate TLR4 and induce inflammatory damage of peritoneum in peritoneal dialysis model mice.

Objective To observe the inter-observer consistency of diameter of inferior vena cava(IVC)and IVC collapsibility index(IVCCI)measured and assessed with echocardiography and the correlations with right heart parameters in patients with right heart dysfunction.Methods Forty-seven patients with right heart dysfunction were prospectively recruited in observation group,while 50 adults with normal right heart function were taken as controls(control group).Parameters of the right heart were obtained with echocardiography,including the right ventricular fractional area change(FAC),the tricuspid annular plane systolic excursion(TAPSE),the myocardial performance index(MPI),the tricuspid annular systolic velocity(S')as well as early and late diastolic velocity(e',a')and e'/a' ratio,also the tricuspid valve orifice early and late diastolic velocities(E,A)and E/A ratio and E/e',the vena contracta width of tricuspid regurgitation(TR-VCW),the maximum velocity of tricuspid regurgitation(TR-Vmax),the pulmonary artery systolic pressure(PASP)and right atrial area(RAA).Besides,the maximal and minimal diameter of IVC(IVCDmax,IVCDmin)during the respiratory cycle were measured with two dimensional(2D)ultrasound and anatomical M-mode ultrasound,respectively,and the IVCCI were calculated.Then 20 subjects were randomly selected from each group,and IVC parameters were obtained.The basic data,right heart parameters and IVC parameters were compared between groups,intra-class correlation coefficient(ICC)between 2 sonographers of IVC parameters were calculated,and correlations between IVC parameters and right heart parameters were assessed.Results No significant differences of gender,age nor body mass index(BMI)was detected between groups(all P＞0.05).Compared with those in control group,MPI,e',e'/a',E,A,E/e',TR-VCW,TR-Vmax,PASP and RAA increased,whereas FAC,TAPSE,S'and a'decreased in observation group(all P＜0.05).The inter-observer consistencies were good for IVCDmax and IVCCI in observation group(ICC=0.787-0.971)and IVCDmax in the control group(ICC=0.971,0.964)obtained with 2D ultrasound and anatomical M-mode ultrasound,but poor for IVCCI in control group(ICC=0.169,0.456).Compared with those in control group,IVC parameters 2D-IVCDmax,2D-IVCDmin,M-IVCDmax and M-IVCDmin increased but 2D-IVCCI and M-IVCCI decreased in observation group(all P＜0.05).In control group,2D-IVCDmax was weakly negatively correlated with TAPSE and a'(r=-0.392,-0.364),weakly positively correlated with e'/a',E,E/A,TR-VCW and RAA(r=0.396,0.483,0.461,0.565,0.582),2D-IVCCI was weakly negatively correlated with TR-VCW and RAA(r=-0.386,-0.380),while M-IVCDmax was weakly negatively correlated with TAPSE(r=-0.384),and weakly positively correlated with e'/a',E,E/A,TR-VCW and RAA(r=0.357,0.453,0.473,0.549,0.550),M-IVCCI was weakly negatively correlated with MPI,E,TR-VCW and RAA(r=-0.347,-0.337,-0.475,-0.421).Conclusion In patients with right heart dysfunction,IVCD diameter and IVCCI obtained with echocardiography had good inter-observer consistencies.Parameters obtained with 2D ultrasound and anatomic M-mode ultrasound had certain relations with the right heart parameters.

It is difficult to treat severe burn combined injury caused by high voltage. This paper reports the successful treatment of a patient with large cranial area third degree burn, skull exposure, local skull carbonization combined with cerebrospinal fluid leakage caused by ten thousand volts high voltage current. Vacuum sealing drainage was given to protect the wounds from infection after multiple limited debridement in the early stage. The external of the inactivated skull was cleaned in the later stage. Finally, the bilateral anterolateral thigh flap combined with multiple burr holes was used to repair the wound. There were no severe postoperative complications, and the therapeutic effect was satisfactory.

It is difficult to treat severe burn combined injury caused by high voltage. This paper reports the successful treatment of a patient with third degree burn of extra large cranial area, skull exposure, local skull carbonization combined with cerebrospinal fluid leakage caused by ten thousand volts high voltage current. Vacuum sealing drainage was given to protect the wounds from infection after multiple limited debridement in the early stage. The external plate of the inactivated skull was cleaned in the later stage. Finally, the bilateral anterolateral thigh flap combined with multiple burr holes was used to repair the wound. There were no severe postoperative complications, and the therapeutic effect was satisfactory.

It is difficult to treat severe burn combined injury caused by high voltage. This paper reports the successful treatment of a patient with large cranial area third degree burn, skull exposure, local skull carbonization combined with cerebrospinal fluid leakage caused by ten thousand volts high voltage current. Vacuum sealing drainage was given to protect the wounds from infection after multiple limited debridement in the early stage. The external of the inactivated skull was cleaned in the later stage. Finally, the bilateral anterolateral thigh flap combined with multiple burr holes was used to repair the wound. There were no severe postoperative complications, and the therapeutic effect was satisfactory.

It is difficult to treat severe burn combined injury caused by high voltage. This paper reports the successful treatment of a patient with third degree burn of extra large cranial area, skull exposure, local skull carbonization combined with cerebrospinal fluid leakage caused by ten thousand volts high voltage current. Vacuum sealing drainage was given to protect the wounds from infection after multiple limited debridement in the early stage. The external plate of the inactivated skull was cleaned in the later stage. Finally, the bilateral anterolateral thigh flap combined with multiple burr holes was used to repair the wound. There were no severe postoperative complications, and the therapeutic effect was satisfactory.