Objective To investigate the genetic causes of auditory neuropathy with optic atrophy in a family.Methods The proband's medical history and family history were inquired in detail,and relevant clinical examina-tions were performed to confirm the diagnosis of auditory neuropathy with optic atrophy,and the genetic pedigree of the family was drawn.Peripheral blood of proband(Ⅲ-7)was collected for whole exome sequencing,and the patho-genicity of the detected mutations were interpreted.Blood samples of proband's wife(Ⅲ-8),eldest daughter(Ⅳ-7),second daughter(Ⅳ-9)and son(Ⅳ-10)were tested for mutation sites by Sanger sequencing.Combined with clinical manifestations and examination results,the family was studied.Results The genetic pattern of this family was autosomal dominant.The proband showed decreased visual acuity at the age of 19,bilateral sensorineural deaf-ness at the age of 30,and decreased speech recognition rate.Among 20 members of the family of 5 generations,10(2 deceased)showed similar symptoms of hearing and visual impairment.Proband(Ⅲ-7),eldest daughter(Ⅳ-7)and son(Ⅳ-10)underwent relevant examination.Pure tone audiometry showed bilateral sensorineural deafness.ABR showed no response bilaterally.The 40 Hz AERP showed no response in both ears.OAE showed responses in some or all of the frequencies.No stapedial reflex was detected.The eye movement of Ⅲ-7 and Ⅳ-10 were reasona-ble in all directions,and color vision was normal.Ocular papilla atrophy was observed in different degrees in fundus examination.OCT showed thinning of optic disc nerve fibers in both eyes,and visual evoked potential showed pro-longed P100 wave peak.They were diagnosed as hereditary auditory neuropathy with optic atrophy.A mutation of the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)at a pathogenic locus on chromosome 3 was detected by whole exon detection in Ⅲ-7.The results of generation sequencing analysis showed that the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)mutation of chromosome 3 was also found in Ⅳ-7 and Ⅳ-10.Meanwhile,the gen-otypes of Ⅲ-8 and Ⅳ-9 were wild homozygous,that is,no mutation occurred.Conclusion The OPA1 c.1334G＞A(p.Arg445His,NM_015560.2)mutation site might be the pathogenic mutation in this family.

Objective:To explore the effect of transcutaneous electrical nerve stimulation (TENS) on interleukin-33 (IL-33)/growth stimulation expressed gene 2 (ST2) signaling pathway in the dorsal root ganglia (DRGs) of rats modeling hyperalgesia (HP).Methods:This study consisted of two experiments. In the first, 30 Sprague-Dawley (SD) rats were randomly divided into a blank group, a Sham-HP group, an HP group, an antibody group and an inhibitor group, each of 6. HP was induced in all except the rats of the blank and Sham-HP groups by injecting carrageenan (Car) and prostaglandin E2 subcutaneously at the bottom of the left hind feet. The antibody and inhibitor groups were then given intrathecal injections of anti-ST2 antibody and a tumor necrosis factor α (TNF-α)-specific inhibitor, respectively. In the second experiment, 42 SD rats were randomly divided into a Sham-HP group, an HP group, a TENSⅠgroup, a TENS II group, a TENS I inhibitor group, a TENS II inhibitor group, and a Sham-TENS group, each of 6. All of the groups had HP induced as in experiment one. All of the rats except those in the Sham-HP, HP and Sham-TENS groups were then given TENS, and the TENS I and II inhibitor groups were offered intrathecal injection of TNF-α-specific inhibitors. Mechanical pain thresholds (MPTs) were documented 4h, 24h, 48h, 72h, 6d, 7d 4h, 7d 1h, and 7d after the Car injections. Western blotting was used to measure the protein expressions of IL-33, ST2 and TNF-α 6d after the Car injection in both experiments.Results:In experiment one, the average MPTs of the HP, antibody and inhibitor groups had decreased significantly 4 hours after the Car injection compared with the blank and Sham-HP groups. However, 7d 1h after the Car injection the value had increased significantly in the Sham-HP, antibody and inhibitor groups compared with the HP group, while the expressions of IL-33, ST2 and TNF-α had decreased significantly. In experiment two, by 4 hours after the Car injection, the average MPT of all the other groups had decreased significantly compared with the Sham-HP group. Moreover, by 7d 1h after the Car injection, the average MPTs of the groups receiving TENS had increased significantly, with significantly lower MPT in the TENS Ⅱ group than in group Ⅰ, on average. There was also significantly higher expression of IL-33, ST2 and TNF-α in group II. Compared with the TENS Ⅰ and Ⅱ groups, the average MPT was significantly higher in the TENS I and Ⅱ inhibitor groups, but IL-33, ST2 and TNF-α expression was lower.Conclusions:TENS can inhibit TNF-α expression, which influences the signals of the DRG IL-33/ST2 signaling pathway to reverse hyperalgesia. TENS combined with anti-TNF-α treatment is superior to TENS alone in treating hyperalgesia.

Objective:To investigate the clinical features, diagnostic methods and treatments of left ventricular apical fibroma.Methods:The clinical manifestations, ECG, imaging features and treatment plans of 2 patients with giant fibroma of left ventricular apex diagnosed in September 2020 and May 2022 were analyzed retrospectively, and the related literature was reviewed.Results:Both patients had slight chest distress and discomfort after activities. The ECG showed T-wave inversion of different degrees, which were misdiagnosed as “myocarditis” and “coronary heart disease” respectively. The cardiac magnetic resonance imaging and echocardiography showed left ventricular apical mass. Coronary artery stenosis was not found in coronary angiography. One patient required conservative treatment, and there was no significant change in clinical symptoms and tumor size in the follow-up for half a year; Another patient underwent cardiac mass removal, and the pathological examination after operation confirmed that it was cardiac fibroma, and there was no recurrence in the follow-up 2 years.Conclusion:Fibroma of left ventricular apex is a rare cardiac tumor, which is easy to be missed and misdiagnosed, and is one of the rare causes of T-wave inversion. Cardiac magnetic resonance imaging, CT and echocardiography are commonly used imaging methods to diagnose cardiac fibroma, and surgical resection is an effective treatment.

Objective:To investigate the clinical characteristics of hip rotator-cuff tear, arthroscopic repair techniques, and short-term clinical efficacy.Methods:A retrospective analysis was performed on the patient cohort from our department who underwent arthroscopic repair for hip rotator-cuff tears from September 2019 to May 2021, with a minimum follow-up duration of two years. The sample included 17 subjects, composed of 6 males and 11 females, with a median age of 56 years (interquartile range 49.5-62.5). Notably, 9 patients (53%) reported nocturnal pain, and 10 patients (59%) exhibited a positive hip flexion resistance test. Patients' demographic details, clinical manifestations, radiographic findings, and intraoperative observations were analyzed. Pain amelioration was gauged by the visual analogue scale (VAS) at preoperative, 1 month, 3 months, and 6 months postoperative intervals. Enhancement in hip functionality was assessed by comparing the modified Harris hip score (mHHS), and the International hip outcome tool-12 (iHOT-12) at preoperative, 6 months, 12 months, and 24 months postoperative junctures.Results:All interventions were successfully completed, with an average surgical duration of 91.2±18.3 minutes. The follow-up period averaged 29 months. Every patient presented with a hip rotator-cuff tear, which was corrected using anchor suturing. 10 patients also had concomitant labrum injuries, with 5 cases undergoing labrum repair. The VAS score decreased from preoperative 5.24±1.15 to postoperative 2.29±0.69 at 1 month, 1.77±0.56 at 3 months, and 1.59±0.62 at 6 months ( F=79.31, P<0.001); The mHSS score increased from preoperative 49.59±6.11 to postoperative 81.00±3.89 at 6 months, 81.71±3.41 at 12 months, and 81.94±3.29 at 24 months ( F=232.00, P<0.001); The iHOT-12 score increased from preoperative 42.65±6.04 to postoperative 6 months 66.53±3.43, 12 months 68.12±3.48, and 24 months 69.06±3.53 ( F=150.00, P<0.001). Conclusion:Diagnosing hip rotator-cuff tears necessitates specific physical examinations complemented by high-definition magnetic resonance imaging. Arthroscopic surgery represents a potent treatment modality for hip rotator-cuff injuries, demonstrating substantial short-term clinical efficacy.

Objective To investigate the characteristics of population and the changes of disease spectrum in patients treated by endoscopic retrograde cholangiopancreatography ( ERCP ) . Methods Data of 20170 patients, who underwent ERCP in the First People' s Hospital of Hangzhou from May 2004 to February 2018, were enrolled in the retrospective analysis. According to the year of diagnosis and treatment,patients were divided into 2004-2008, 2009-2013, and 2014-2018 group; according to the postoperative diagnosis of ERCP, they were divided into biliary tract diseases ( including calculus, benign stenosis, malignant stenosis, and other causes ) and pancreatic diseases ( including acute pancreatitis, chronic pancreatitis, pancreatic malignant tumor, and other causes ) group; and according to the age, they were divided into the younger age (0-18 years old), young and middle age (19-65 years old), old age (66-85 years old), and advanced age (>85 years old) group. Statistical analysis was performed in the different groups. Results Among the 20170 patients, there were 10260 males and 9910 females, with age of 62. 65± 17. 11 years. The proportion of the younger age group and the advanced age group was 1. 04％( 24/2308 ) , 1. 69％ ( 127/7520 ) , 2. 39％ ( 247/10342 ) , and 2. 95％ ( 68/2308 ) , 4. 19％( 315/7520 ) , 6. 15％ ( 636/10342 ) , respectively, in the 2004-2008, 2009-2013 and 2014-2018 subgroups, with a rising trend (P<0. 017). A total 20032 patients had a clear postoperative diagnosis, including 15618 ( 77. 97％) of biliary diseases and 4414 ( 22. 03％) of pancreatic diseases. Biliary stones accounted for the majority of biliary diseases (63. 2％, 9863/15618), and its proportion increased from 59. 9％ ( 1191/1987 ) in 2004-2008 to 64. 5％ ( 5118/7939 ) in 2014-2018 ( P= 0. 000 ) . Acute pancreatitis accounted for the majority of pancreatic diseases (67. 4％, 1973/4414), and its proportion increased from 52. 4％ ( 162/309) in 2004-2008 to 69. 9％ ( 1636/2340) in 2014-2018 ( P=0. 000) . The top 3 diseases in the younger group and the advanced age group were acute pancreatitis ( 32. 58％, 129/396) , biliary stones ( 25. 25％, 100/396 ) , chronic pancreatitis ( 22. 22％, 88/396 ) , and biliary stones (56. 46％, 568/1006), malignant biliary stenosis (12. 52％, 126/1006), benign biliary stricture ( 10. 34％, 104/1006) , respectively. Conclusion The main disease of patients receiving ERCP is biliary stone, and the proportion of acute pancreatitis is increased. The overall age of the patients is old, and the proportion of the elderly and underaged patients is gradually increasing. Biliary diseases and pancreatic diseases are the main diseases in elderly patients and younger patients, respectively.

Objective: The study aimed to explore the recommended treatment for toxicosis of botulism toxin type A. Methods: From January 2016 to August 2017, 8 patients with toxicosis of botulism toxin type A were hospitalized in Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine. All patients were female, 21-33 years of age, with an average age of 26.4 years. All patients showed progressive myasthenia and abnormal electromyography. The clinical manifestations and treatment outcomes of 8 patients in antitoxin group or non-antitoxin group were retrospectively analyzed. Five patients treated in plastic and reconstructive surgery department were included in the antitoxin group. They received skin test before injection, followed by intramuscular injection of 10 000-20 000 U antitoxins once a day for 2-3 days. Three patients treated in neurology department were included in the non-antitoxin group. They received only intravenous drip of neurotrophic drugs. After treatment, the improvement of clinical symptoms such as myasthenia and blepharoptosis was observed, and the electromyogram was followed up. Results: The symptoms of myasthenia of the 5 patients in antitoxin treatment group were significantly improved, and the electromyogram signal returned to normal. However, for the 3 patients in non-antitoxin group, the symptoms of myasthenia did not significantly improve, and their electromyogram signal did not return to normal, even after 5 days′continuous treatment. Conclusions To regulate the cosmetic medical market is the key to prevent the accident of toxicosis of botulism toxin type A. It is necessary to make a definite diagnosis and medical intervene in time for the toxicosis. Antitoxin has a better curative effect, but further research is needed, to verify its safety and effectiveness.

Objective To investigate the effects of the eucalyptol,limonene and pinene enteric soft capsules (mucoregulatory agents) in preventing from tympanum fluid in children.Methods A total of 341 children (497 ears) with acute otitis media were randomly divided into two groups:the experimental group and the control group.The experimental group was given symptomatic treatment and oral in-take of the eucalyptol,limonene and pinene enteric soft capsules,while the control group with acute otitis media received conventional symptomatic treatment.All the patients were followed-up 7 and 14 days after treatment.Clinical data were collected,including symptoms,and tympanogram changes.Results Seven days after the initial treatment,tympanum fluid occurred in 110 cases of 170 ears(65.09％,110/170) in the control group,and in 51 cases of 70 ears (29.65％,51/172) in the experimental group.The difference was statistically significant (P＜0.01).After 14 days,41 cases (66 ears)of tympanum fluid occurred in the control group (24.26％,41/169),32 cases(36 ears) of otitis media (18.60％,32/172) occurred in the experimental group.The difference was statistically significant (P＜0.01).In the control group,the tympanum fluid disappeared in 54 cases(60 ears) after regular treatment 72.0％,54/75),and reliefed in 15 cases(22 ears) with irregular treatment (42.86％,15/35).The difference was statistically significant (P＜0.01).Conclusion Eucalyptol,limonene and pinene enteric soft capsules can effectively reduce the incidence of tympanum fluid in children with acute otitis media.Mucoregulatory agents may promote the eduction of effusion.

Objective To study safety and efficacy of transurethral Thulium laser resection of high-risk stage bladder tumor in anticoagulant state.Methods A total of 26 non-muscle invasive bladder cancer patients receiving long-term anticoagulant therapy,including 16 cases with cerebral infarction,7 cases with coronary heart disease,3 patients with coronary stenting,were retrospectively analyzed in our hospital from July 2012 to July 2014.In condition not stopping anticoagulants,Thulium laser transurethral resection of bladder tumor was performed,and hemoglobin,thrombin time,the operative time,intraoperative blood loss,postoperative bladder irrigation duration,postoperative hospital stay,bladder tumor recurrence within two years,the postoperative complications were recorded before and after surgery.Results All patients were successfully treated.The operative time was(29.1 ± 12.8) min,int raoperative blood loss was (29.4 ± 16.9) ml portions,postoperative bladder irrigation time was (1.25 ± 0.55) d,postoperative hospital stay was(5.51 ± 1.06) d.Hemoglobin before and after operation were (131.35 ± 6.57) g/L and (129.75 ± 11.05) g/L respectively,there was no statistically significant differences (t =1.014,P ＞ 0.05) between them.Prothrombin time before and after operation were (12.50 ± 0.25) s and(12.44 ± 0.27) s,with no statistically significant difference (t =0.908,P＞0.05)between them.During the followed-up of 48 months,tumor recurred at heterotopia in 2 patients.Conclusions Thulium laser transurethral resection of bladder tumor is safe and effective for patients undergoing long-term oral anticoagulation drugs,without a needto stop taking anticoagulant drugs.

Objective To explore the effects of comprehensive nursing combined with acupoint massage on patients with post-stroke depression. Methods Totally 76 patients with post-stroke depression from May 2015 to March 2016 hospitalized in the rehabilitation department of Daqing Longnan Hospital, were divided into the observation group and the control group according to random number table, with 38 cases in each group. Patients in the observation group received comprehensive nursing and acupoint massage, while patients in the control group received routine psychological nursing, and the course of treatment were all four weeks. Hamilton depression scale ( HAMD ) and national institute of health stroke scale ( NIHSS ) in America were used to evaluate the improvement of depression and improvement of neuronal functional recovery. Results Four weeks after treatment, the HAMD score (4.88±1.63) and NIHSS score (6.28± 2. 76) in the observation group were lower than the HAMD score (15.58±3.94) and NIHSS score (17.98± 4.37)in the control group (P<0.05). The total efficiency of improvement in depression (84.2%) and total efficiency of neurological improvement ( 89. 4%) in the observation group, were higher than that in the control group ( P<0. 05 ) . Conclusions Comprehensive nursing combined with acupoint massage has a better curative effect in patients with post-stroke depression than the routine psychological nursing.

Objective To evaluate the clinical features, treatment outcome, and prognostic factors in patients with primary Waldeyer’ s ring diffuse large B?cell lymphoma (WR?DLBCL). Methods This study included 200 patients with a confirmed diagnosis of primary WR?DLBCL admitted to our hospital from 2000 to 2013, who consisted of 50 stage I patients, 125 stage II patients, and 25 stage III?IV patients. Most patients received 4?6 cycles of CHOP or CHOP?based chemotherapy with or without involved field radiotherapy (Waldeyer′s ring+cervical lymph node region). Results The 5?year sample size was 71. The 5?year overall survival (OS), progression?free survival (PFS), and locoregional control (LRC) rates for the whole group were 78%, 72%, and 87%, respectively. In the 175 early stage patients, chemoradiotherapy resulted in significantly higher OS, PFS, and LRC than chemotherapy alone (86% vs. 70%, P= 0?? 001;84% vs. 58%, P= 0?? 000;97% vs. 66%, P= 0?? 000). Univariate analysis showed that age, tumor size, stage, lactate dehydrogenase level, and International Prognostic Index were prognostic factors for OS, PFS, and LRC ( P= 0?? 000?0?? 036), while the prognostic factors for PFS also included Eastern Cooperative Oncology Group score and cervical nodal involvement (P= 0?? 018). Multivariate analysis showed that age and stage were prognostic factors for OS and LRC (P= 0?? 003?0?? 022), and age was the prognostic factor for PFS (P= 0?? 000). Conclusions WR?DLBCL has distinct clinical features and favorable prognoses. For early stage patients, combined?modality therapy results in significantly higher OS, PFS, and LRC.