Objective:To explore the genetic and clinical characteristics of Guizhou patients with enlarged vestibular aqueduct（EVA） syndrome through combined SLC26A4 variant analysis and clinical phenotype analysis. Methods:Seventy-two EVA patients underwent comprehensive genetic testing using a multiplex PCR-based deafness gene panel and next-generation sequencing（NGS）. The audiological and temporal bone imaging characteristics were compared across mutation subtypes. Results:A total of 27 pathogenic loci of SLC26A4 were detected in 72 patients, including c.919-2A>G in 79.2%（57/72）. A novel deletion（c.1703_1707+6del） was discovered. Among 65 cases, truncated mutations were 89.2%（58/65）, 52.3%（34/65）, 28（43.1%） and 7（10.8%）. No significant differences were observed in the midpoint diameter of the vestibular aqueduct and the incidence of incomplete partitioning typeⅡ（IP-Ⅱ） of the cochlea among the three groups of patients. Moreover, there was no difference in the midpoint diameter of different vestibular pipes or the combination with IP-Ⅱ. Conclusion:The most common mutation site of SLC26A4 in EVA patients in Guizhou is c.919-2A>G, though genotype-phenotype correlations remain elusive. The detection of 27 mutation sites and the discovery of new mutation sites suggested the precise diagnostic significance of NGS technology in EVA patients in Guizhou.
Humans ; Sulfate Transporters ; Vestibular Aqueduct/abnormalities* ; Mutation ; Membrane Transport Proteins/genetics* ; Hearing Loss, Sensorineural/genetics* ; Male ; Female ; Child ; Adolescent ; Child, Preschool ; Adult ; Young Adult ; Phenotype ; High-Throughput Nucleotide Sequencing

Objective:To evaluate the role of phosphatidylinositol 3-kinase (PI3K)/serine threonine protein kinase (Akt)/mammalian rapamycin target protein (mTOR) signaling pathway in edaravone-induced reduction of postoperative cognitive dysfunction in aged rats.Methods:Sixty healthy male Sprague-Dawley rats, aged 20 months, weighing 600-700 g, were divided into 4 groups ( n=15 each) using a random number table method: control group (group C), operation group (group O), edaravone group (group E) and PI3K inhibitor LY294002 group (group LY). The rats received laparotomy under 3% sevoflurane anesthesia in O, E and LY groups. Edaravone 3 mg/kg was intraperitoneally injected at 30 min before operation in E and LY groups, and LY294002 0.3 mg/kg was simultaneously injected via the tail vein in group LY. Open field test was performed at 3 days after surgery to evaluate the spontaneous activity of rats, then Morris water maze test was performed to evaluate the cognitive function of rats. The rats were sacrificed after the end of behavioral experiment to isolate hippocampal tissues for determination of the expression of phosphorylated PI3K (p-PI3K), phosphorylated Akt (p-Akt), phosphorylated mTOR (p-mTOR), synaptophysin (SYP) and postsynaptic density protein 95 (PSD 95) (by Western blot ) and dendrite length in hippocampal CA1 area (using Golgi staining). The density of dendrites was calculated. Results:There were no statistically significant differences in exercise speed, distance, and time of staying at the center between the four groups ( P>0.05). Compared with group C, the escape latency was significantly prolonged, the number of crossing the original platform was reduced, the expression of p-PI3K, p-Akt, p-mTOR, SYP and PSD-95 was down-regulated, the dendritic length of neurons in hippocampal CA1 region was shortened, and the density of neurons in hippocampal CA1 region was decreased in group O ( P<0.05). Compared with group O, the escape latency was significantly shortened, the number of crossing the original platform was increased, the expression of p-PI3K, p-Akt, p-mTOR, SYP and PSD-95 was up-regulated, the dendritic length of neurons in hippocampal CA1 region was prolonged, and the density of neurons in hippocampal CA1 region was increased in group E ( P<0.05). Compared with group E, the escape latency was significantly prolonged, the number of crossing the original platform was reduced, the expression of p-PI3K, p-Akt, p-mTOR, SYP and PSD-95 was down-regulated, and the dendritic length of neurons in hippocampal CA1 region was shortened, and the density of neurons in hippocampal CA1 region was decreased in group LY ( P<0.05). Conclusions:The mechanism by which edaravone reduces postoperative cognitive dysfunction is related to activating PI3K/Akt/mTOR signaling pathway and improving synaptic plasticity in aged rats.

Objective:To evaluate the effect of edaravone on the extracellular signal-regulated kinase (ERK)-cAMP responsive element binding protein (CREB) signaling pathway in the hippocampus of aged rats with postoperative cognitive dysfunction (POCD).Methods:Sixty SPF healthy male Sprague-Dawley rats, aged 20 months, weighing 650-700 g, were divided into 4 groups ( n=15 each) using a random number table method: control group (group C), POCD group (group P), edaravone group (group E) and ERK inhibitor group (group I). The rats received laparotomy under 3% sevoflurane anesthesia to prepare POCD model in P, E and I groups. Edaravone 3 mg/kg was intraperitoneally injected at 30 min before operation in E and I groups, ERK inhibitor PD98059 0.3 mg/kg was injected via the tail vein in group I. The open field test was performed at 3 days after operation to evaluate the spontaneous activity of rats, then Morris water maze test was performed to evaluate the cognitive function of rats on 3-7 days after operation. The rats were sacrificed after the end of Morris water maze test, and hippocampal tissues were obtained for determination of the expression of phosphorylated ERK (p-ERK), phosphorylated CREB (p-CREB), synaptophysin and postsynaptic density protein 95 (PSD-95) (by Western blot) and dendrite length and density of dendrites in hippocampal CA1 area (using Golgi staining). Results:Compared with group C, the escape latency was significantly prolonged after operation, the number of crossing the original platform was reduced, the expression of p-ERK, p-CREB, synaptophysin and PSD-95 was down-regulated, and the dendritic length and density of hippocampal neurons were reduced in group P ( P<0.05). Compared with group P, the escape latency was significantly shortened, the number of crossing the original platform was increased, the expression of p-ERK, p-CREB, synaptophysin and PSD-95 was up-regulated, and the dendritic length and density of hippocampal neurons were increased in group E ( P<0.05). Compared with group E, the escape latency was significantly prolonged, the number of crossing the original platform was reduced, the expression of p-ERK, p-CREB, synaptophysin and PSD-95 was down-regulated, the dendritic length of hippocampal neurons was shortened, and the density of hippocampal neurons was decreased in group I( P<0.05). Conclusions:The mechanism by which edaravone improves POCD may be related to activating ERK/CREB signaling pathway and changing synaptic plasticity in hippocampal CA1 region in aged rats.

Entinostat plus exemestane in hormone receptor-positive (HR+) advanced breast cancer (ABC) previously showed encouraging outcomes. This multicenter phase 3 trial evaluated the efficacy and safety of entinostat plus exemestane in Chinese patients with HR + ABC that relapsed/progressed after ≥1 endocrine therapy. Patients were randomized (2:1) to oral exemestane 25 mg/day plus entinostat (n = 235) or placebo (n = 119) 5 mg/week in 28-day cycles. The primary endpoint was the independent radiographic committee (IRC)-assessed progression-free survival (PFS). The median age was 52 (range, 28-75) years and 222 (62.7%) patients were postmenopausal. CDK4/6 inhibitors and fulvestrant were previously used in 23 (6.5%) and 92 (26.0%) patients, respectively. The baseline characteristics were comparable between the entinostat and placebo groups. The median PFS was 6.32 (95% CI, 5.30-9.11) and 3.72 (95% CI, 1.91-5.49) months in the entinostat and placebo groups (HR, 0.76; 95% CI, 0.58-0.98; P = 0.046), respectively. Grade ≥3 adverse events (AEs) occurred in 154 (65.5%) patients in the entinostat group versus 23 (19.3%) in the placebo group, and the most common grade ≥3 treatment-related AEs were neutropenia [103 (43.8%)], thrombocytopenia [20 (8.5%)], and leucopenia [15 (6.4%)]. Entinostat plus exemestane significantly improved PFS compared with exemestane, with generally manageable toxicities in HR + ABC (ClinicalTrials.gov #NCT03538171).

Objective    To explore coronary angiographic characteristics in patients with symptomatic recurrence after coronary artery bypass grafting (CABG). Methods    We performed a retrospective study of 997 patients with symptomatic recurrence after CABG in Beijing Anzhen Hospital from 2010 to 2020. There were 762 males and 235 females, with an average age of 62.41±8.70 years. Results    There was a high prevalence of risk factors like hypertension, diabetes and a history of smoking. Diseased arterial grafts accounted for 27.44% while saphenous vein graft 54.40%; 240 (24.07%) patients had all patent grafts. The main lesion characteristics of diseased grafts were chronic total occlusion lesions (79.57%). Most patients had more diseased native vessels after CABG than before. The type C coronary artery disease in native vessels relevant to ischemic area occurred in 674 (67.60%) patients; 525 (52.66%) patients with recurrent symptom after CABG had both diseased grafts and diseased native vessels. Conclusion     Graft status in patients with symptomatic recurrence after CABG is worse than we expected. The majority have newly developed lesions both in grafts and native vessels. Native vascular lesions will continue to progress after CABG.

Objective:To explore the effect of self-made mold in the spreading moxibustion of patients in the Department of Spine Orthopedics.Methods:From January 2019 to September 2020, convenience sampling was used to select 160 patients with spreading moxibustion in the Department of Spine Orthopedics of Liuzhou Traditional Chinese Medicine Hospital as the research objects. According to the order of treatment, patients were randomly divided into the control group and the experimental group, with 80 cases in each group. The control group used conventional methods for spreading moxibustion, and the experimental group used self-made molds for spreading moxibustion. The ginger column cracking of the two groups of patients, and operation time of 6 operators for spreading moxibustion on the two groups of patients was compared.Results:The cracking rate of ginger columns in the experimental group was lower than that in the control group, and the difference was statistically significant ( P<0.01) . The operation time of the 6 operators on the patients in the experimental group was (2.5±0.23) min, which was shorter than (18.5±0.41) min in the control group, and the difference was statistically significant ( P<0.01) . Conclusions:The application of self-made molds can shorten the spreading moxibustion operating time of operators and reduce the cracking rate of ginger columns, which is worthy of clinical application.

Objective:To investigate the clinical application of salvianolate for injection in Tongde Hospital of Zhejiang Province and evaluate its rationality of injection.Methods:From March 2018 to November 2018, 560 patients treated with salvianolate for injection in Tongde Hospital of Zhejiang Province were selected by random sampling method.The indications, usage and dosage, route of administration, choice of vehicle, concentration of vehicle, course of treatment, compatibility, contraindications and adverse reactions of salvianolate for injection were analyzed retrospectively.Results:Totally 560 inpatients received salvianolate for injection were collected, about 26.96%(151/560) was consistent with the indication, 99.82%(559/560) with a correct administration dosage and frequency, 100.00%(560/560) with right administration route, 95.00%(532/560) with a right solvent selection, 67.86%(380/560) with correct solvent concentration, 61.07%(342/560) with a correct treatment course, 100.00%(560/560) with a right medicine combination, about 94.46%(529/560) was consistent with coagulation function contraindication, about 90.18%(505/560) was consistent with liver function contraindication.The incidence of adverse reactions was 1.61%(9/560).Conclusion:In the clinical application of salvianolate for injection, a high rate of unreasonable usage is found in indication, treatment course and solvent selection.Because of the serious problems in the use of salvianolate injection, it should be used strictly to ensure clinical medication safety.

Objective To analyze clinicopathological characteristics and the potential risk-related factors of female breast hyperplasia in different age groups.Method From Jan 2015 to Dec 2016,patients diagnosed with breast hyperplasia in 12 hospitals were evaluated.All patients completed the self-designed questionnaires on women'health,including basic demographic information,clinic examination information,radiologic information and pathologic results.The patients were divided into a young group (＜ 45 years old) and an elderly group (from 45 to 75 years old).Results There were 3 684 cases of breast hyperplasia,including 2 291 cases in young group and 1 393 cases in elder group,respectively Clinically breast pain type were most commonly observed in both young and older groups (50.3％ vs.42.7％,P ＜ 0.001).While pathological research based on biopsy showed that breast adenopathy were the most common changes in both groups (67.9％ vs.61.7％,P ＜0.001).More breast cancer cases were identified in elder group than that in young group,especially in clinically lump type patients (9.4％ vs.4.2％,P ＜ 0.001).Compared with elder group,patients in young group have different distribution characteristics regarding to fertility factors,lifestyle factors and psychology scale including anxiety and depression.Conclusion Distributions of clinicopathological characteristics and risk factors of female breast hyperplasia differ across different age groups.

Objective: To design the protection of peritoneal dialysis catheter and solve the problem of broken peritoneal dialysis catheter during clinical use. Methods: A total of 94 patients with end-stage renal disease who received newly opened peritoneal dialysis in the Department of Nephrology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology from January 2016 to December 2017 were selected as research objects. In order of the time of tube opening, 47 patients with singular ordinal number receiving treatment were set as the control group, and 47 patients with even ordinal number receiving treatment were set as the observation group. The patients of control group, using the traditional peritoneal dialysis tube nursing; the patients of observation group, using anti - broken peritoneal dialysis tube for nursing. To observe and compare the incidence of dialysis catheter loosening and breakage during dialysis in the 2 groups of peritoneal dialysis patients, as well as the patient satisfaction. Results: The catheter crease deformation of the observation group(0 case) was significantly lower than that of the control group (12 cases), and the difference was statistically significant (χ²=13.610, P<0.05). The total satisfaction of patients in the observation group was 97.87% (46/47), while that of patients in the control group was 72.34% (30/47). The total satisfaction rate of observation group was significantly higher than that of control group (χ²=12.086, P<0.01). No leakage occurred in the observation group, which was also significantly lower than that in the control group. However, due to the limited observation time, the number of cases was small without statistical significance (P>0.05). Conclusions The improved peritoneal dialysis catheter is more convenient, safe and effective for long-term peritoneal dialysis patients, and it can reduce the incidence of peritonitis associated with peritoneal dialysis catheter, which is worthy of clinical application.

Objective To design the protection of peritoneal dialysis catheter and solve the problem of broken peritoneal dialysis catheter during clinical use. Methods A total of 94 patients with end-stage renal disease who received newly opened peritoneal dialysis in the Department of Nephrology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology from January 2016 to December 2017 were selected as research objects. In order of the time of tube opening, 47 patients with singular ordinal number receiving treatment were set as the control group, and 47 patients with even ordinal number receiving treatment were set as the observation group. The patients of control group, using the traditional peritoneal dialysis tube nursing; the patients of observation group, using anti- broken peritoneal dialysis tube for nursing. To observe and compare the incidence of dialysis catheter loosening and breakage during dialysis in the 2 groups of peritoneal dialysis patients, as well as the patient satisfaction. Results The catheter crease deformation of the observation group(0 case) was significantly lower than that of the control group (12 cases), and the difference was statistically significant (χ2=13.610, P<0.05). The total satisfaction of patients in the observation group was 97.87％ (46/47), while that of patients in the control group was 72.34％ (30/47). The total satisfaction rate of observation group was significantly higher than that of control group (χ2=12.086, P<0.01). No leakage occurred in the observation group, which was also significantly lower than that in the control group. However, due to the limited observation time, the number of cases was small without statistical significance (P>0.05). Conclusions The improved peritoneal dialysis catheter is more convenient, safe and effective for long-term peritoneal dialysis patients, and it can reduce the incidence of peritonitis associated with peritoneal dialysis catheter, which is worthy of clinical application.