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 clinical and epidemiological characteristics of adult carotid body tumors (CBTs) in Northwest China to provide references for early diagnosis and treatment of CBTs.Methods:A multicenter, retrospective, non-intervention epidemiological investigation was conducted on adult CBTs patients who were hospitalized from January 1, 2011 to June 30, 2023 in 7 Class A tertiary hospitals in Northwest China (Departments of Neurosurgery, First Affiliated Hospital of Air Force Medical University, Second Affiliated Hospital of Lanzhou University, People's Hospital of Gansu Province, 940 th Hospital of PLA Joint Logistic Support Force, People's Hospital of Qinghai Province, General Hospital of Ningxia Medical University, People's Hospital of Ningxia Hui Autonomous Region). Medical records were collected in these patients, and they were divided into 2 groups according to their average altitude residence: high altitude group (≥1 500 m) and low altitude group (<1 500 m); meanwhile, these patients were divided into Shamblin type I, type II and type III groups according to Shamblin classification criteria; differences in general data and clinical features among patients from different altitude groups or Shamblin subgroups were compared. Independent influencing factors for Shamblin type III CBTs were analyzed by multivariate ordered Logistic regression. Results:(1) A total of 359 patients were enrolled in the study, including 276 females and 83 males, aged (48.80±12.07) years; 211 patients were into the high altitude group and 148 into the low altitude group; 165 patients were into Shamblin type I group, 146 into Shamblin type II group, and 48 into Shamblin type III group. (2) Compared with those in the low altitude group, patients in the high altitude group had higher proportion of females, older age, lower proportion of Han nationality, higher proportion of Shamblin type I, smaller tumor volume, lower platelet count, higher red blood cell count, hematocrit, hemoglobin level, platelet distribution width and mean platelet volume, and higher large platelet percentage, with significant differences ( P<0.05). (3) Compared with those in the Shamblin type I group, patients in the Shamblin type III group had younger age, lower resident altitude, larger tumor volume, longer time interval from onset to diagnosis, higher proportion of unintentional tumor discovery, larger volume of intraoperative blood loss, lower hemoglobin level, hematocrit, mean erythrocyte volume, and mean hemoglobin concentration, decreased erythrocyte distribution width variable coefficient, and increased platelet count, with significant differences ( P<0.05). Compared with those in the Shamblin type II group, patients in Shamblin type III group had younger age, larger tumor volume, longer time interval from onset to diagnosis, larger volume of intraoperative blood loss, lower hemoglobin, hematocrit and mean erythrocyte volume, higher erythrocyte distribution width variable coefficient and platelet count, with significant differences ( P<0.05). (4) Age ( OR=0.960, 95% CI: 0.942-0.977, P<0.001), residence altitude ( OR=0.992, 95% CI: 0.990-0.999, P=0.020) and time interval from onset to diagnosis ( OR=1.009, 95% CI: 1.005-1.014, P<0.001) were independent influencing factors for Shamblin type III CBTs. Conclusions:More females than males are noted in patients with adult CBTs in Northwest China, and more CBTs patients live at high altitude, with Shamblin type I enjoying the highest proportion. More female and old patients lived at high altitude is noted than those lived at low altitude; patients with Shamblin type III have the youngest age, lowest altitude, and longest time interval from onset to diagnosis. CBTs patients with young age, low residence altitude, and long time interval from onset to diagnosis are more likely to develop Shamblin type III.

Objective To study Chinese medicine consultation strategies to achieve rapid capture of key information about patients'conditions and to advance the development of objectification in Chinese medicine consultation.Methods A symptom questioning model based on frequent pattern mining algorithm in correlation analysis was used,and a cross-merging method was used to establish a TCM symptom questioning strategy between single-system symptom questioning and multi-system integrated symptom questioning in TCM,to achieve the shortest time and highest efficiency in capturing key information about the patient's condition.Results A breakthrough from single-system questioning to five-system integrated questioning was achieved,and the process of efficiently obtaining information about the patient's condition was achieved through both single-system and five-system symptom questioning modes,and the system was able to obtain 92%of the patient's symptom information with at most 65%fewer questions than the traditional scale questioning method,greatly improving the efficiency of obtaining information about the patient's symptoms.Conclusion With the two different symptom questioning modes,the traditional TCM questioning mode of asking patients based on scales is broken,the time to obtain symptoms from patients is shortened,the questioning process is simplified,and discrepancies due to inexperience or human subjectivity are reduced,which can be used in clinical aids to diagnosis in TCM.

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.

In 2016, a national one million general population cohort project was set up in China for the first time in "Precision Medicine Research" Key Project, National Key Research and Development Program of China, which consists of general population cohorts in seven areas in China. As one of the seven major areas in China, northeastern China has unique climate and specific dietary patterns, and population aging is serious in this area. And the burden of chronic and non-communicable diseases ranks tops in China. Therefore, it is of great significance to establish a large general population cohort in northeastern China to explore the area specific exposure factors related to pathogenesis and prognosis of chronic and non-communicable diseases, develop new prevention strategies to reduce the burden of the diseases and improve the population health in northeastern China. In July 2018, the general population cohort study in northeastern China was launched, the study includes questionnaire survey, health examination and blood, urine and stool sample collection and detection in recruited participants. By now, the cohort has covered all age groups, and the baseline data of 115 414 persons have been collected. This paper summarizes the design and practice of the general population cohort study in northeastern China to provide reference for related research in China.

The limited knowledge of genomic diversity and functional genes associated with the traits of soybean varieties has resulted in slow progress in breeding.In this study,we sequenced the genomes of 250 soybean landraces and cultivars from China,America,and Europe,and inves-tigated their population structure,genetic diversity and architecture,and the selective sweep regions of these accessions.Five novel agronomically important genes were identified,and the effects of functional mutations in respective genes were examined.The candidate genes GSTT1,GL3,and GSTL3 associated with the isoflavone content,CKX3 associated with yield traits,and CYP85A2 associated with both architecture and yield traits were found.The phenotype-gene network analysis revealed that hub nodes play a crucial role in complex phenotypic associations.This study describes novel agronomic trait-associated genes and a complex genetic network,providing a valuable resource for future soybean molecular breeding.

Objective To explore the potential mechanisms of low density lipoprotein receptor (LDLr) in high glucose peritoneal dialysis solution (PDS)-induced peritoneal fibrosis.Methods Human peritoneal mesothelial cells (PMCs) were applied.In pre-experiment,human PMCs were cultured with 1.5％ PDS,2.5％ PDS and 4.25％ PDS for 6 h,12 h and 24 h.4.25％ mannitol was used as high osmotic pressure control.In formal experiment,PMCs were divided into the control group (treated with phosphate buffer saline) and the high glucose PDS group (treated with 4.25％ PDS for 24 h).Morphological change of PMCs was observed by inverted microscope.The mRNA and protein expressions of extracellular matrix proteins such as α-smooth muscle actin (α-SMA),fibroblast specific protein-1 (FSP-1) and collagen Ⅰ in PMCs were respectively measured by real-time PCR and Western blotting.The lipid accumulation was observed by oil red O staining and filipin staining,and the content of intracellular cholesterol ester was detected by high-performance liquid chromatography.The co-expression of the sterol regulatory element-binding protein (SREBP) cleavage-activating protein (SCAP) with golgin was observed with immunofluorescent staining.The mRNA and protein expressions of LDLr,SREBP-2 and SCAP were respectively detected by real-time PCR and Western blotting.The mRNA and protein expressions of mammalian target of rapamycin (mTOR),eukaryotic initiation factor 4E-binding protein 1 (4EBP1),and p70 S6 kinase (S6K1) were respectively detected by real-time PCR and Western blotting.Results (1) Compared with the 1.50％ PDS stimulation,4.25％ PDS for 24 h intervention significantly increased the expression of LDLr in PMCs (P ＜ 0.05),and high osmotic pressure control at 6 h,12 h and 24 h had no statistical difference (P ＞ 0.05).(2) Compared with those in the control group,in high glucose PDS group PMCs showed notable elongation consistent with the morphology of myofibroblasts,the expressions of α-SMA,FSP-1 and collagen Ⅰ were increased (all P ＜ 0.05),and the intracellular cholesterol were enhanced (P ＜ 0.05).Meanwhile,the co-expression of SCAP with golgin was enhanced,and the mRNA and protein expressions of LDLr,SREBP-2 and SCAP were up-regulated in high glucose PDS group (all P ＜ 0.05).Further,the mRNA and protein phosphorylation of mTOR,4EBP1 and S6K1 were increased (all P ＜ 0.05).Conclusions The disruption of LDLr feedback regulation is involved in high glucose PDS-mediated cholesterol accumulation in PMCs by mammalian target of rapamycin complex 1 (mTORC1) pathway,which promotes the accumulation of extracellular matrix and peritoneal fibrosis.

Objective To investigate clinical feature,therapy and prognosis of 63 (rhabdomyolysis,RM) patients.Methods Retrospective analysis was used for the 63 patients who were from Nanjing from Janurary 2010 to August of 2016.Results Clinical history:the pathogenic factors mainly contained eating lobster,excessive exercise,lipid-lowering drugs,and minority patients were induced by infection,cardiac defibrillation,alcohol,and unexplained factors.Clinical features:most patients presented different degree of muscle soreness and weakness,and urine color of soy sauce;and few patients manifested a fever,respiratory distress and sound hoarse.Of which 11 RM patients concurrent acute kidney injury (AKI),there was no obvious bias of pathogenic factors among 11 patients.Clinical examination:the data was described by median,including creatine kinase 6 400 U/L,aspartate aminotransferase 399 U/L,lactate dehydrogenase 816 U/L,α-hydroxybutyric acid 445 U/L,and myoglobin 1 200 ng/ml.Creatine kinase and myoglobin were selected to measure muscle injure,there was no significant difference among the groups (P ＞ 0.05).Renal tubular injury index such as urincosmotic pressure,urine retinol-binding protein and N-acetyl-beta-D-glucosaminidase (NAG) enzyme,the abnormal percentage were 62.5％,50％,and 47.6％.Treatment:patients without complications through resting,water infusion,urine alkalization,were cured;and 11 cases of patients with AKI,1 case gave up,5 cases underwent hemodialysis,and 5 cases underwent conservative treatment,creatinine decreased to the basic level.Conclusions Among different pathogenic factors of RM,there were no obvious differences in clinlcal symptom,muscle damage degree,and whether the coexistence of AKI and prognosis.The understanding of RM,early diagnosis and treatment would prevent AKI and improve the prognosis.

Objective To evaluate the application of plasma drug monitoring in pediatric HIV/AIDS patient antiretroviral therapy adherence monitoring.Methods Totally 261 plasma samples and related information were collected from three consecutive follow-up visits of 87 HIV-infected children treated in Shangcai county CDC of Henan province from March to October 2009.The plasma concentrations of antiretroviral drugs were measured by a developed high performance liquid chromatography-mass spectrometry method.Potential adherence influencing factors, such as regimen, age, gender, parent conditions, previous ART exposure and therapy duration, were analyzed by univariate logistic regression.Results Plasma concentration of antiretroviral drugs lower than LLTR (1 000 ng/ml) was the criteria to identify missed dose.The concentrations of 28 plasma samples were lower than LLTR, which meant missing dose.There were 17 patients (19.5%) with their concentrations lower than LLTR at least once in three follow-up visits.Logistic regression analysis of adherence related factors showed that compared with the children whose parents were both alive, the children whose mother and (or) father died were more likely to miss dose.The odds ratio was 4.13(95% credibility interval:1.37-12.46, P values was 0.012).Conclusions HIV-infected children have adherence problems when receiving antiretroviral therapy.Plasma therapeutic drug monitoring can be one of the effective methods to monitor the adherence.

Objective The articular neurohistology is a new approach to explore stabilized and chronic pain mechanisms for joint research. Furthermore, the distribution of mechanoreceptors and their functional condition play an important role in the movement and stability of joint. The animal experimental study suggest that there is a various characteristics of the type and amount of mechanoreceptors in different joints. Pacini corpuscle, Ruffini corpuscle and Golgi tendon organs as joint mechanoreceptors are widely distributed on nearly all of human joint, and have impact on stabilization of joint. The present investigates the neurohistological features of Pacini corpuscle, Ruffini corpuscle and Golgi tendon organs in the rotator cuff and the capsule, and explores their behaviors for maintaining stability of the shoulder joint. Methods Six rotator cuffs and capsules of shoulder joint were obtained from cadavers died of the accident. The tendinous tissue of subscapularis, supraspinatus、infraspinatus, and teres minis were resected from the interface of tendon and muscle to great and lesser tuberosity of humerus, the capsule tissues of glenohumeral were harvested as well. Then, the tissues were cut into a small fragments fixed with the formalin buffer solution, and embed in paraffin. The section was made along the longitudinal axis of the tendon at 150 ?m interval with Leitz 1516 machine. The modified Bielschowsky staining and the S-100 immuohistochemical staining were adopted to observe the mechanoreceptors of Pacini corpuscle, Ruffini corpuscle and Golgi tendon organs. The distribution density and size of the sensitive nerve endings were analyzed with Leica imaging process system. Results The tendinous part of rotator cuff could be divided into three layers: synovial, intermediate and articular layer. The morphology of the these three types of mechanoreceptors, Pacini corpuscle, Ruffini corpuscle and Golgi tendon organs, could be identified clearly in the every layer of the tendious tissues under microscopic examination. Pacini corpuscle was ellipse and had multi layer capsule with the thickness of 20-40 ?m; Ruffini corpuscle was columnar and 350-550 ?m in size; Most of Golgi tendon organs were found at the interface of tendon and muscle. Among of them, the Pacini corpuscle and Ruffini corpuscle were much more than the Golgi tendon organs in rotator cuff and capsule of shoulder. The results of immuohistochemical staining and the counting of nerve ending assisted by the computer showed the number of sensory nerve endings in the subscapularis, supraspinatus and anterior capsule of the shoulder were much more than in the infraspinatus, teres minis and posterior capsule. The diameter of nerve bundle in the subscapularis, supraspinatus and anterior capsule was thicker than in the other periarticular structures. In periarticular structures, the mean value of nerve fiber counting were 25 in infraspinatus, 25 in supraspinatus, 13 in subscapularis, 10 in teres minis, 22 in anterior capsule and 12 in posterior capsule. Conclusion Shoulder capsule and rotator cuff are rich in the three type of mechanoreceptors, Pacini corpuscle, Ruffini corpuscle and Golgi tendon organs. However, there are a different distribution density and size of them in rotator cuff and capsule of shoulder, but the three of mechanoreceptors are mainly concentrated in the subscapularis, supraspinatus and the anterior capsule. S-100 immuohistochemical staining is much more sensitive than the modified Bielschowsky silver staining in displaying the innervations of the rotator cuff and capsule. The characters of the sensory nerve ending distribution in shoulder imply that the innervations of the shoulder play an important role in keeping the stability and mobility of the shoulder.