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 analyze the efficacy and safety of nalbuphine for analgesia in patients with non-mechanical ventilation in intensive care unit (ICU).Methods:From December 2018 to August 2021, a multicenter randomized controlled clinical study was conducted to select non-mechanical ventilation patients with analgesic needs admitted to ICU of four hospitals in Henan Province and Guizhou Province. Patients were randomly assigned to nalbuphine group and fentanyl group. The nalbuphine group was given continuous infusion of nalbuphine [0.05~0.20 mg/(kg·h)], and the fentanyl group was given continuous infusion of fentanyl [0.5~2.0 μg/(kg·h)]. The analgesic target was critical-care pain observation tool (CPOT) score<2. The observation time was 48 hours. The primary endpoint was CPOT score, the secondary endpoints were Richmond agitation-sedation score (RASS), ICU length of stay, adverse events, and proportion of mechanical ventilation. The quantitative data of the two groups were compared by t test or Mann-Whitney U test. The enumeration data were compared by chi square test or Fisher exact probability method. The data at different time points between groups were compared by repeated measures analysis of variance. Results:A total of 210 patients were enrolled, including 105 patients in the nalbuphine group and 105 patients in the fentanyl group. There was no significant difference in baseline data between the two groups (all P>0.05). There was no significant difference in CPOT score between nalbuphine group and fentanyl group at each time point after medication ( P>0.05), the CPOT score of both groups at each time point after medication was significantly lower than that before medication, and the analgesic target could be achieved and maintained 2 hours after medication. There was no significant difference in RASS between the two groups at each time point after medication ( P>0.05), which was significantly lower than that before medication, and the target sedative effect was achieved 2 hours after medication. There was no significant difference in ICU length of stay between nalbuphine group and fentanyl group [5.0(4.0,7.5) d vs. 5.0(4.0,8.0) d, P=0.504]. The incidence of delirium, nausea and vomiting, abdominal distension, pruritus, vertigo and other adverse events in the nalbuphine group was lower than that in the fentanyl group (all P<0.05). There was no significant difference in the incidence of other adverse events such as deep sedation, hypotension and bradycardia between the two groups (all P>0.05). The incidence of respiratory depression in nalbuphine group was not significantly different from that in fentanyl group ( P>0.05), but the proportion of mechanical ventilation was significantly lower than that in the fentanyl group [1.9% (2/105) vs. 8.6%(9/105), P=0.030]. Conclusions:Nalbuphine could be used for analgesia in ICU patients with non-mechanical ventilation. The target analgesic effect could be achieved within 2 hours, and it had a certain sedative effect with a low incidence of adverse reactions.

Objective:To study the differential gene expression and immune cell infiltration of gout patients,to find the key genes and immune cells of gout pathogenesis,and to explore the relationship between immune cells and gout.Methods:The gout chip GSE160170 was downloaded from the GEO database,and the differential gene expression analysis was carried out with the help of R language.Then,the STRING database was used to analyze the differential gene,and the Cytoscape software was used to screen the key genes,and then carry out enrichment analysis.At the same time,the infiltration of immune cells were analyzed.Results:The study found that IL-6,IL-1β,TNF,CCL3,CXCL8 and CXCL1 were key genes in the pathogenesis of gout,which were mainly exerted by IL-17,Toll-like receptor,NOD-like receptor,NF-κB and other signaling pathways.Processes such as cellular responses to lipo-polysaccharides,bacteria-derived molecules,and biological stimuli lead to disease;immune infiltration results indicate that memory B cells,activated NK cells,activated dendritic cells,activated mast cells and eosinophils were involved in the disease.It was signifi-cantly expressed in gout patients;the correlation analysis between immune cells showed that the expression of follicular helper T cells were positively correlated with the expression of activated mast cells,and the expression of unactivated NK cells and monocyte were negatively correlated.Conclusion:Key genes and differentially expressed immune cells are closely related to the pathogenesis of gout,providing new ideas for the study of the molecular mechanism of gout.

Objective:To retrospectively summarize the clinical characteristics and treatment of 49 patients with hyperthyroid cardiopath and to explore the diagnosis and treatment methods of hyperthyroid cardiopathy.Methods:A total of 49 patients with hyperthyroid cardiopath(HC group) who were successfully treated and followed up in the Department of Endocrinology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, from January 2016 to December 2021 were collected, and 85 cases of Graves′ disease without heart disease were collected as the control group(GD group). The medical history, laboratory tests, and echocardiographic parameters of the two groups were compared. Differences in thyroid and cardiac indicators before and after treatment in the HC group were summarized, along with the dosage of β-receptor blockers used in treating different types of conditions(atrial fibrillation and heart failure.Results:Patients in the HC group were older and had a longer duration of hyperthyroidism than those in the GD group( P<0.001, P=0.002). There were no significant differences in thyroid hormone levels between the two groups except for reverse triiodothyronine(rT 3). Age and rT 3 were independent risk factors of hyperthyroid cardiopathy. rT 3 level was linearly positively correlated with brain natriuretic peptide, systolic pulmonary artery pressure, left artrium diamete (LAD) and left ventricular end-systolic diameter(LVDs; r=0.352, P<0.001; r=0.392, P=0.019; r=0.202, P=0.029; r=0.242, P=0.028). In patients of HC group, free triiodothyronine(FT 3) level returned to normal range after 2.87(1.63, 5.53) months of treatment with radioiodine(41/49) or antithyroid drugs(8/49), while brain natriuretic peptide, LAD, LVDs, and systolic pulmonary artery pressure declined after 5.00(1.25, 8.00) months of treatment. Non-selective β-receptor blockers were used for both hyperthyroid heart failure and atrial fibrillation, and there was no statistically significant difference in dosage[(86.52±47.83)mg vs(88.67±47.19)mg, P>0.05]. Conclusions:rT 3 may be a biomarker of hyperthyroid cardiopath and indicate the severity of hyperthyroidism. β-receptor blockers are crucial in treating patients with hyperthyroidism who develop atrial fibrillation and heart failure.

P21-activated kinase 5 (PAK5) belongs to the PAK-II subfamily, which is an important regulator of cell survival, adhesion, and motility. However, the functions of PAK5 in endometriosis remain unclear. Here, PAK5 is strikingly upregulated in endometriosis. Furthermore, the knockdown of PAK5 or its inhibitor GNE 2861 blocks the development of endometriosis, which is equally demonstrated in PAK5-knockout mice. In addition, PAK5 promotes glycolysis by enhancing the protein stability of pyruvate kinase 2 (PKM2) in endometriotic cells, which is a key enzyme for glucose metabolism. Moreover, the phosphorylation of PKM2 at Ser519 by PAK5 mediates endometriosis cell proliferation and metastasis. Collectively, PAK5 plays an indispensable role in endometriosis. Our findings demonstrate that PAK5 is an important target for the treatment of endometriosis.
Endometriosis/genetics* ; Female ; Animals ; p21-Activated Kinases/genetics* ; Mice ; Phosphorylation ; Glycolysis ; Humans ; Thyroid Hormone-Binding Proteins ; Membrane Proteins/genetics* ; Carrier Proteins/genetics* ; Cell Proliferation ; Mice, Knockout ; Thyroid Hormones/metabolism* ; Pyruvate Kinase/genetics*

Objective:To develop a novel, flexible, dual-arm, master-slave digestive endoscopic minimally invasive surgical robot system named dual-arm robotic endoscopic assistant for minimally invasive surgery (DREAMS) and to evaluate its feasibility for endoscopic submucosal dissection (ESD) by using ex vivo porcine stomachs.Methods:A novel endoscopic robot (DREAMS) system was developed which was composed of a flexible two-channel endoscope, two flexible robotic manipulators, a master controller, a robotic arm, and a control system. A total of 10 artificial round-like lesions with diameters ranging from 15 to 25 mm were created (5 in gastric antrum and 5 in gastric body) by using fresh peeled stomach of healthy pigs as the model. Submucosal dissection was performed with the assistance of the DREAMS system by two operators. The main outcome was submucosal dissection speed, and the secondary outcomes included muscular injury rate, perforation rate, and grasping efficiency of the robot.Results:All 10 lesions were successfully dissected en bloc by using the DREAMS system. The diameter of the artificial lesions was 22.34±2.39 mm, dissection time was 15.00±8.90 min, submucosal dissection speed was 141.79±79.12 mm 2/min, and the number of tractions required by each ESD was 4.2 times. Muscular injury occurred in 4/10 cases of ESD. No perforation occurred. Conclusion:The initial animal experiment shows the DREAMS system is safe and effective.

Objective:To explore the efficacy of subcutaneous injection of granulocyte-macrophage colony-stimulating factor (GM-CSF) in preventing invasive fungal disease (IFD) in patients with multiple myeloma (MM).Methods:The clinical data of 222 patients who were admitted to the Second Hospital of Harbin Medical University from January 2015 to June 2021 were retrospectively analyzed. The patients was given GM-CSF (3-5 μg·kg -1·d -1, GM-CSF group) or granulocyte colony-stimulating factor (G-CSF, 2-5 μg·kg -1·d -1, G-CSF group) when neutrophils (ANC) ≤1.5×10 9/L after induction chemotherapy. Patients were discontinued when white blood cell count (WBC) ≥10.0×10 9/L. The incidence of IFD (including confirmed, clinical and proposed diagnosis) and breakthrough invasive fungal infections was compared between the two groups. Results:The incidence of IFD was 8.1% (18/222) in all patients. The incidence of IFD was 3.5% (3/85) and 10.9% (15/137) in the GM-CSF and G-CSF groups, respectively, and the difference between the two groups was statistically significant ( χ2 = 3.88, P = 0.049). In 9 patients of GM-CSF group receiving fungal infection prophylaxis and in 15 patients of G-CSF group receiving fungal infection prophylaxis, the incidence of breakthrough invasive fungal infections was 0 and 7 cases, respectively, and the difference between the two groups was statistically significant ( P = 0.022). Conclusions:GM-CSF application in MM patients can reduce the incidence of IFD and breakthrough invasive fungal infections.

Objective:Analyze the correlation between serum immunoglobulin G (IgG) N-glycan and Lauren classification of gastric cancer.Methods:A retrospective study was performed on 17 patients with diffuse type gastric cancer and 21 patients with intestinal type who received treatment in Zhongshan Hospital from 2017 to 2018, and the general medical history data and disease characteristics were summarized. The serum IgG glycome profiles were analyzed by ultraperformance liquid chromatography, and the difference between intestinal type and diffuse type gastric cance was compared.Logistic regression was used to evaluate the correlation between serum IgG N-glycan and Lauren classification.Results:IgG N-glycome analysis included 27 directly detected glycans and 4 derived traits. H=Hexose, N=N-acetylglucosamine, F=Fucose, S=Sialic acid.There was no significant difference in IgG N-glycan among different chemotherapy protocol. Compared with intestinal type, H3N3F1 ( t=3.785, P=0.001), H3N4( t=3.919, P=0.002), H3N4F1( t=2.770, P=0.005), H3N5F1( t=2.888, P=0.010) were decreased in diffuse type; H4N4F1(6)( t=?3.488, P<0.001), H5N4F1( t=?3.401, P=0.003), H5N5F1( t=?2.303, P=0.023), H5N4F1S1 ( t=?3.068, P=0.008) were increased.H3N3F1( OR:1.20, P=0.008), H3N4( OR:1.32, P=0.005), H3N4F1 ( OR:1.13, P=0.017), H3N5F1 ( OR:1.78, P=0.015), H4N4F1(6)( OR:0.43, P=0.008), H5N4F1(6)( OR:0.74, P=0.008), H5N5F1 ( OR:0.32, P=0.036), H5N4F1S1( OR:0.48, P=0.009) were significantly correlated with Lauren classification. Sialylated ( t=?2.717, P=0.012) and galactosylated ( t=?3.400, P=0.001) IgG N-glycan were reduced in patients with intestinal type gastric cancer.Galactosylated ( OR:0.87, P=0.007) and sialylated ( OR:0.62, P=0.015) IgG N-glycan were significantly correlated with Lauren classification. Conclusion:Some IgG N-glycan are significantly correlated with Lauren classification, which can be used as potential biomarkers.

Objective:To analyze the application value of narrative education model in clinical teaching of nurses in operating room.Methods:A total of 90 nursing students in the Department of Operating Room, Shanghai Tenth People's Hospital from January 2018 to January 2020 were selected as the research objects and randomly divided into observation group and control group, 45 in each group. The control group was taught by traditional mentoring method, and the observation group was taught by narrative education model. The two groups of nursing students practiced for 4 weeks. After the teaching, the scores of theoretical knowledge and operation were compared between the two groups. The scores of career identity scale and caring ability evaluation scale of the two groups were compared, the scores of each dimension of Chinese registered nurse core competence scale (CIRN) were evaluated, and the feedback of the two groups of nursing students on the teaching methods was analyzed. SPSS 22.0 was used to conduct t-test and chi-square test. Results:The scores of theoretical knowledge and operation in the observation group were (94.52±5.34) points and (88.67±3.98) points, respectively, which were significantly higher than those [(85.67±5.26), (82.24±4.16)] in the control group ( t=7.92, 7.49, all P<0.001). The scores of professional identity scale and caring ability evaluation scale in the observation group were (39.12±5.12) points and (193.14±11.24) points, respectively, which were significantly higher than those [(34.21±4.23), (180.23±11.35)] in the control group ( t=4.96, 5.42, all P<0.001). The scores of various dimensions of CIRN in the observation group were significantly higher than those in the control group ( t=4.72, 7.57, 4.13, 4.66, 6.19, 4.27, 5.48, all P<0.001). The feedback of nursing students in the observation group on teaching methods was significantly better than that in the control group ( χ2=4.29, 6.48, 12.26, 4.44, 7.60, 5.03, P<0.05). Conclusion:Narrative education model can significantly improve the internship effect of operating room interns, with clinical value.

Objective:To evaluate the visibility of intracranial deep medullary vein (DMV) by sensitivity weighted imaging (SWI), and explore its correlation with recent small subcortical infarct (RSSI).Methods:From March 2021 to May 2022, 277 patients with cerebral small vascular disease (CSVD) confirmed by cranial MRI in Department of Neurology, Third Hospital of Hebei Medical University, were consecutively enrolled. These patients were divided into RSSI group ( n=128) and non-RSSI group ( n=149) according to RSSI presence or not within one week of onset. According to the DMV scores, these patients were divided into mild-moderate DMV group (0-12 scores, n=199) and severe DMV group (13-18 scores, n=78). The clinical and imaging data of these groups were analyzed retrospectively and compared. Multivariate Logistic regression analysis was used to determine the correlation between DMV and RSSI, as well as the independent influencing factors for DMV grading. Results:The cerebral microbleed (CMB), periventricular white matter hyperintensity (WMH) scores, deep WMH scores, total WMH scores, total CSVD burden scores, and DMV scores in patients of the RSSI group were significantly higher than those in the non-RSSI group ( P<0.05); and patients in the RSSI group had significantly younger age and significantly lower high density lipoprotein cholesterol (HDL-C) level than those in the non-RSSI group ( P<0.05). Multivariate Logistic regression analysis showed that DMV score ( OR=1.142, 95%CI: 1.026-1.271, P=0.016) was an independent influencing factor for RSSI after adjusting for HDL-C and deep WMH scores. The severe DMV group had significantly older age, statistically higher percentages of patients having history of hypertension, CMB, lacuna and moderate to severe EPVS in basal ganglia, and significantly higher periventricular WMH scores, deep WMH scores, total WMH scores, and total CSVD burden scores as compared with the mild-moderate DMV group ( P<0.05). Multivariate Logistic regression analysis showed that age ( OR=1.101, 95%CI: 1.060-1.143, P<0.001) and total CSVD burden scores ( OR=3.589, 95%CI: 2.506-5.141, P<0.001) were independent influencing factors for DMV scores. Conclusion:DMV is involved in the mechanism of RSSI, and DMV visibility can be used as an indicator to diagnose RSSI and evaluate RSSI progression.