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 evaluation efficacy and predictive prognostic value of alpha-fetoprotein (AFP) response in tyrosine kinase inhibitors (TKIs) in combination with PD-1 inhibitors (α-PD-1) for intermediate-to-advanced hepatocellular carcinoma (HCC).Methods:The retrospective cohort study was conducted. The clinicopathological data of 205 patients with intermediate-to-advanced HCC who were admitted to 9 medical centers, including Mengchao Hepatobiliary Hospital of Fujian Medical University et al, from March 2020 to July 2022 were collected. There were 178 males and 27 females, aged (52±12)years. Based on AFP response at 6-8 weeks after treatment, patients were divided into the AFP response group (AFP level decreased by ≥50% compared to baseline) and the AFP no response group (AFP level decreased by <50% compared to baseline). Observation indicators: (1) AFP response evaluation of anti-tumor efficacy; (2) comparison of patient prognosis; (3) analysis of factors affecting patient prognosis. Measurement data with normal distrubution were represented as Mean± SD, and measurement data with skewed distribution were represented as M(range) and M( Q1, Q3). Count data were described as absolute numbers, and comparison between groups was conducted using the chi-square test. The Kaplan-Meier method was used to draw survival curve and calculate survival rate, and the Log-Rank test was used for survival analysis. The COX proportional risk model was used for univariate analysis and the COX stepwise regression model was used for multivariate analysis. Results:(1) AFP response evaluation of anti-tumor efficacy. Before treatment, all 205 patients were positive of AFP, with a baseline AFP level of 1 560(219,3 400)μg/L. All 205 patients were treated with TKIs in combination with α-PD-1, and the AFP level was 776(66,2 000)μg/L after 6 to 8 weeks of treatment. Of the 205 patients, 88 cases were classified as AFP response and 117 cases were classified as AFP no response. According to the response evaluation criteria in solid tumors version 1.1, the objective response rate (ORR) and disease control rate (DCR) were 42.05%(37/88) and 94.32%(83/88) in patients of the AFP response group and 16.24% (19/117) and 64.10% (75/117) in patients of the AFP no response group, showing significant differences between them ( χ2=16.846, 25.950, P<0.05). According to the modified response evaluation criteria in solid tumors, the ORR and DCR were 69.32% (61/88) and 94.32% (83/88) in patients of the AFP response group and 33.33% (39/117) and 64.10% (75/117) in patients of the AFP no response group, showing significant differences between them ( χ2=26.030, 25.950, P<0.05). (2) Comparison of patient prognosis. All 205 patients were followed up for 12.4(range, 2.4-34.0)months after treatment. The median progression free survival time and total survival time were 5.5 months and 17.8 months, respectively. The 1-year, 2-year progression free survival rates were 20.8% and 7.2%, and the 1-year, 2-year overall survival rates were 68.7% and 31.5%, respectively. The median progression free survival time, 1-year and 2-year progression free survival rates were 9.7 months, 39.6% and 14.2% in patients of the AFP response group and 3.7 months, 7.8% and 2.0% in patients of the AFP no response group, showing a significant difference in progression free survival between them ( χ2=43.154, P<0.05). The median overall survival time, 1-year and 2-year overall survival rates were not reached, 85.2% and 56.3% in patients of the AFP response group and 14.6 months, 56.3% and 14.5% in patients of the AFP no response group, showing a significant difference in overall survival between them ( χ2=33.899, P<0.05). (3) Analysis of factors affecting patient prognosis. Results of multivariate analysis showed that invasion of large blood vessels, extrahepatic metastasis, combined hepatic artery intervention therapy, and AFP response were independent factors influencing progression free survival in patients with intermediate-to-advanced HCC who were treated with TKIs in combination with α-PD-1 ( hazard ratio=1.474, 1.584, 0.631, 0.367, 95% confidence interval as 1.069-2.033, 1.159-2.167, 0.446-0.893, 0.261-0.516, P<0.05), and Eastern Cooperative Oncology Group score, invasion of large blood vessels, extrahepatic metastasis, and AFP response were independent factors influencing overall survival in patients with intermediate-to-advanced HCC who were treated with TKIs in combination with α-PD-1 ( hazard ratio= 1.347, 1.914, 1.673, 0.312, 95% confidence interval as 1.041-1.742, 1.293-2.833, 1.141-2.454, 0.197-0.492, P<0.05). Conclusions:AFP response at 6-8 weeks after treatment can effectively evaluate anti-tumor efficacy of TKIs in combination with α-PD-1 for intermediate-to-advanced HCC. AFP response is the independent factor influencing progression free survival and overall survival in patients with intermediate-to-advanced HCC who were treated with TKIs in combination with α-PD-1.

Objective To investigate the high risk factors of endometrial polyps (EPs)in infertile patients and its impact on the pregnancy outcome after embryo transfer.Methods A case-control trail was conducted on the infertility patients who undergoing embryo transfer in our hospital for the first time after hysteroscopy from January 2016 to December 2022.Their clinical data were collected and retrospectively analyzed.Univariate and stepwise logistic regression analyses were used to identify the risk factors for EPs,and the impact of polyps on the pregnancy outcomes of assisted reproductive pregnancy was analyzed with propensity score matching (PSM)at a 1:2 ratio.Results A total of 388 patients diagnosed with Eps and undergoing hysteroscopic endometrial polypectomy were assigned into the Eps group,and 2163 non-polyp patients were into the non-Eps group.Univariate analysis showed statistical differences were observed in age[31 (29,34)vs 31 (28,33),P=0.002],history of pelvic inflammatory disease (42.78％vs 64.17％,P=0.000),age at menarche[14 (12,14)vs 13 (12,14)years old,P=0.000],number of pregnancies[0 (0,1 )vs 1 (0,2),P=0.000],primary infertility (60.30％vs 50.20％,P=0.000),duration of infertility[4 (2.1,6.0)vs 4 (2.0,6.0)years,P=0.002],concomitant endometriosis (9.53％ vs 6.52％,P=0.032),concomitant uterine fibroids (11 .85％vs 6.93％,P=0.001 ),and basal estrogen level[38.12 (27.00,59.00)vs 36.00 (25.00,53.00)μg/L,P=0.016]between the 2 groups.Logistic stepwise regression analysis indicated that age (OR=1 .082,95％CI:1 .053～1 .113,P<0.05 ),primary infertility (OR=2.951,95％CI:1 .990～4.376,P<0.05),and elevated basal estrogen (OR=1 .003,95％CI:1 .001～1 .005,P<0.05)were risk factors for Eps.The postoperative biochemical pregnancy rate (59.28％vs 52.70％),clinical pregnancy rate (53.09％vs 45.48％),and live birth rate (43.81％vs 35.82％)were significantly higher in the matched Eps group than the non-Eps group (P<0.05 ).No statistical difference was observed in pregnancy outcome in the patients with different polyp locations and sizes.The patients with multiple polyps had an obvious higher rate of early miscarriage than those with single polyp (17.27％ vs 7.29％,P<0.05 ),while those with recurrent polyps also had a higher rate of early miscarriage than those with primary polyps (27.78％vs 11.23％,P<0.05).Conclusion Age,primary infertility,and elevated basal estrogen are risk factors for Eps in infertility patients,while hysteroscopic endometrial polypectomy prior to embryo transfer results in improved pregnancy outcomes in those with Eps.The location and size of endometrial polyps have weak impact on pregnancy outcomes following embryo transfer,but,the presence of multiple or recurrent polyps may elevate the risk of early miscarriage.

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

Objective:To evaluate the safety and effectiveness for the treatment of totally robotic fundoplication.Methods:A retrospective analysis was conducted on the clinical data of 21 patients with gastroesophageal reflux disease (GERD) who underwent unassisted totally robotic fundoplication at the Second Department of General Surgery, Yan'an Hospital Affiliated to Kunming Medical University from Aug 2023 to Jan 2024. The postoperative outcomes were evaluated using SF-36, GERD-Q, and NRS scoring indicators.Results:All 21 patients successfully underwent the surgery. The robotic surgery time was (99±41) minutes, with precise intraoperative anatomy and insignificant blood loss of (1.7±1.4) ml. There were no intraoperative or postoperative complications, and no conversions to open surgery . Postoperative recovery of bowel function was rapid (11.71±3.33) hours, with minimal postoperative pain (NRS score of 1.67±0.48).The postoperative hospital stay was short (3.86±2.90) days, and patient satisfaction was high, SF-36 score of (80.90±1.14);The symptoms of reflux after surgery was significantly reduced.Postoperative GERD-Q score of (4.38±1.69) significantly lower than the preoperative score of (13.90±2.07).Conclusion:Totally robotic fundoplication provides clear view of intraoperative anatomical structures, rapid postoperative recovery, minimal pain, and effective anti-reflux outcomes.

Objective To summarize the clinical characteristics of patients with occupational melanosis. Methods Diagnostic data of 69 patients with occupational melanosis was analyzed using retrospective analysis. Results The main occupational hazards for the 69 patients with occupational melanosis were coal tar, petroleum and its fractionated products, pigments and dyes and their intermediates, rubber additives and rubber products. The median length of occupational exposure and disease latency were 8.0 and 6.0 years, respectively, with a highly positive correlation between them (Spearman correlation coefficients=0.962, P<0.01). Skin lesions were mainly found on exposed areas such as the face-to-neck and limbs, prevalence of 94.2% and 75.4% respectively. And 78.3% of patients had skin lesion on more than two sites. The lesions were mostly in the form of irregular flakes (59.4%), with a gray-black color (44.9%). About 43.5% of patients experienced skin itching. Complete blood count, liver function, and kidney function were all within normal ranges. Skin biopsy results showed that epidermal hyperkeratosis, thinning of the spinous layer, liquefaction degeneration of basal cells, increased superficial dermal melanocytes, and infiltration of lymphocytes, histiocytes, and melanocytes around the blood vessels. Reflectance confocal microscopy (RCM) detection showed focal liquefaction degeneration of basal cells in the lesions, with a significant infiltration of melanocytes and inflammatory cells in the dermal papillae and superficial layers. Conclusion The primary target organ of occupational melanocytes is the skin, and no damage to other organs was identified thus far. Results from skin biopsies and RCM examinations can be used for differential diagnosis.

【Objective】 To establish a prognostic model of fatty acid metabolism related genes for predicting the prognosis of renal clear cell carcinoma. 【Methods】 The differentially expressed fatty acid metabolism-related genes in renal clear cell carcinoma samples and normal samples in TCGA database were screened by R language software. The Cox proportional hazard regression model was used to select and establish a multigene prognostic model and the prognostic score was calculated. Patients were divided into high-risk group and low-risk group according to the median prognostic score. Kaplan-Meier survival curve was used to analyze the difference in two groups. The clinical pathological factors and prognostic score factors were included in the Cox regression model to analyze the factors affecting the survival of patients with renal clear cell carcinoma. ROC receiver operating curve analysis was used to evaluate the accuracy of the prognostic prediction model. The prognostic model of fatty acid metabolism-related genes and their correlation with clinical factors were analyzed. GSEA enrichment analysis analyzed the differences of gene sets in risk groups. 【Results】 A total of 4 differential genes (CPT1B, HADH, CYP4A11, and ACADSB) were selected to establish a prognostic model for genes related to fatty acid metabolism in renal cell carcinoma. The prognostic risk score (RS) formula is as follows: RS=0.490×CPT1B-0.428×HADH-0.11 × CYP4A11-0.372 × ACADSB. Kaplan-Meier survival analysis confirmed that the overall survival rate of patients with low-risk prognostic score was significantly higher in patients with overall renal clear cell carcinoma, and the difference was statistically significant (P<0.001). Cox regression analysis showed that the prognostic model of genes related to age and fatty acid metabolism is an independent influencing factor for the prognosis of patients with renal clear cell carcinoma (P<0.01). The 5 years’ AUC of the renal clear cell carcinoma ROC curve of the renal cancer fatty acid metabolism related gene model was 0.802. GSEA analysis showed that the difference of 81 gene sets in the low-risk group was statistically significant (P<0.05). 【Conclusion】 The prognostic model of renal cancer fatty acid metabolism-related genes can be used to predict the prognosis of patients with renal clear cell carcinoma, which is conducive to further guide clinical treatment.

Objective    To explore the single-center experience of hybrid therapy in treatment of Stanford type A aortic dissection, and to make a comparison of the clinical results of this hybrid therapy with total arch replacement surgery in the same period. Methods    From March 2017 to April 2020, 272 patients with Stanford type A aortic dissection underwent surgical treatment in our center, including 147 patients (126 males and 21 females) who received the aortic arch surgery. Among them, 106 patients underwent replacement of ascending aorta+aortic arch+stent trunk (total arch replacement group), while 41 patients underwent one-stop compound total arch type Ⅱ hybrid surgery (compound total arch replacement group). We tried to identify whether hybrid surgery really simplified total arch replacement surgery of the aortic dissection by comparing the operative mortality, postoperative complication rate, operative time, extracorporeal circulation time, etc. Results    There was no statistical difference in preoperative clinical data or death rate between the two groups. However, blood transfusion (6.74±7.35 U vs. 4.65±6.87 U, P<0.05), postoperative respiratory insufficiency [16 (15.09%) vs. 2 (4.88%), P<0.05], and apoplexy [3 (2.83%) vs. 0, P<0.05], paraplegia [2 (1.89%) vs. 0, P<0.05], in the compound total arch replacement group was significantly better than those of the total arch replacement group. The  compound total arch replacement group did not shorten the total operation time, but it was significantly better in terms of extracorporeal circulation time (175.50±55.70 min vs. 129.70±48.80 min, P<0.05), aortic block time (103.10± 23.70 min vs. 49.70±30.10 min, P<0.05), and the time of stopping the circulation or avoiding stopping the circulation (32.10±7.20 min vs. 0 min, P<0.05). The postoperative mechanical ventilation time was shorter in the compound total arch group (62.60±31.70 h vs. 41.30±32.60 h, P<0.05), and the time of staying in ICU (124.50± 61.50 h vs. 63.40±71.20 h, P<0.05) and the postoperative hospital stay (13.50±11.20 d vs. 9.20±7.20 d, P<0.05) were significantly shorter than those in the total replacement group. A total of 138 patients were followed up for 6-38 (15.8±6.4) months. There was no statistical difference in one-year mortality or three-year mortality  (P>0.05). Conclusion    Hybrid surgery shortens extracorporeal circulation time, while reduces or avoids the time of deep hypothermia circulatory arrest, the incidence of complications and the time of hospital stay. In conclusions, hybrid surgery simplifies the arch management of acute Stanford type A aortic dissection.

Objective:To compare the efficacy of transcatheter arterial embolization (TAE) with laparotomy in the treatment of severe liver injury.Methods:A retrospective cohort study was conducted to analyze the clinical data of 48 patients with severe liver injury admitted to 909th Hospital of Joint Logistics Support Force (Affiliated Dongnan Hospital of Xianmen University Medical College) from December 2013 to June 2020, including 28 males and 20 females; aged 16-75 years [(45.7±6.2)years]. There were 25 patients with grade III, 15 grade IV and 8 grade V according to the American Association for the Surgery of Trauma (AAST) classification. After general treatments such as infusion and hemostasis, TAE was performed in 26 patients (TAE group) and laparotomy in 22 patients (laparotomy group). The operation time and length of hospital stay were compared between the two groups. Erythrocyte, hemoglobin and serum creatinine were compared before operation and at postoperative 1 day. Alanine aminotransferase (ALT) and aspartate aminotransferase (AST) were analyzed before operation and at postoperative 1, 3, 7 days. Complications were observed.Results:All patients were followed up for 12-60 months [(17.1±9.1)months]. The operation time and length of hospital stay were (65.7±9.2)minutes and (21.6±6.6)days in TAE group, significantly shorter than (162.5±28.1)minutes and (31.5±7.4)days in laparotomy group ( P<0.05 or 0.01). There was no significant difference between the two groups referring to erythrocyte, hemoglobin and serum creatinine before operation and at postoperative 1 day (all P>0.05). There was no significant difference in ALT and AST between the two groups before operation (all P>0.05). TAE group showed ALT level of 1 154(884, 1 698)U/L, (975.3±400.9)U/L and (403.4±232.9)U/L at postoperative 1, 3, 7 days, significantly lower than 2 053(1 965, 2 132)U/L, (1 604.1±188.2)U/L and (915.3±160.5)U/L in laparotomy group (all P<0.05). TAE group showed AST level of (1 313.2±542.0)U/L, 525(302, 971)U/L and 174(84, 324)U/L at postoperative 1, 3, 7 days, significantly lower than (1 962.9±245.4)U/L, 1 478(1 089, 1 677)U/L and 837(674, 1 006)U/L in laparotomy group ( P<0.05 or 0.01). The complication rate was 26.9% (7/26) in TAE group, significantly lower than 59.1% (13/22) in laparotomy group ( P<0.05). Conclusion:For severe liver injury, TAE can significantly shorten operation time and length of hospital stay, accelerate the recovery of liver function and reduce the complication rate in comparison with laparotomy.