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

Approximately 30%-40% of epilepsy patients do not respond well to adequate anti-seizure medications (ASMs), a condition known as pharmacoresistant epilepsy. The management of pharmacoresistant epilepsy remains an intractable issue in the clinic. Its early prediction is important for prevention and diagnosis. However, it still lacks effective predictors and approaches. Here, a classical model of pharmacoresistant temporal lobe epilepsy (TLE) was established to screen pharmacoresistant and pharmaco-responsive individuals by applying phenytoin to amygdaloid-kindled rats. Ictal electroencephalograms (EEGs) recorded before phenytoin treatment were analyzed. Based on ictal EEGs from pharmacoresistant and pharmaco-responsive rats, a convolutional neural network predictive model was constructed to predict pharmacoresistance, and achieved 78% prediction accuracy. We further found the ictal EEGs from pharmacoresistant rats have a lower gamma-band power, which was verified in seizure EEGs from pharmacoresistant TLE patients. Prospectively, therapies targeting the subiculum in those predicted as "pharmacoresistant" individual rats significantly reduced the subsequent occurrence of pharmacoresistance. These results demonstrate a new methodology to predict whether TLE individuals become resistant to ASMs in a classic pharmacoresistant TLE model. This may be of translational importance for the precise management of pharmacoresistant TLE.
Epilepsy, Temporal Lobe/diagnosis* ; Animals ; Drug Resistant Epilepsy/drug therapy* ; Electroencephalography/methods* ; Rats ; Anticonvulsants/pharmacology* ; Neural Networks, Computer ; Male ; Humans ; Phenytoin/pharmacology* ; Adult ; Disease Models, Animal ; Female ; Rats, Sprague-Dawley ; Young Adult ; Convolutional Neural Networks

Objective:To examine the structural network changes in participants with amnestic mild cognitive impairment(aMCI)and investigate the correlation between these changes and the onset of Alzheimer's disease(AD).Methods:In this prospective study, a total of 100 individuals with amnestic mild cognitive impairment(aMCI)were enrolled as the research group.Additionally, 25 healthy individuals who were matched in terms of age and sex were enrolled as healthy controls.Upon enrollment, all participants underwent MRI scans, neuropsychological assessments, and clinical evaluations.The participants were then followed every 6 months for a period of 36 months or until they withdrew from the study.Based on the outcome of the follow-up(whether Alzheimer's disease occurred), the aMCI participants were divided into two groups: stable aMCI group and progressive aMCI group.The Chinese version of the Brief Mental State Examination(MMSE), the Montreal Cognitive Assessment(MoCA), the Clinical Dementia Rating Scale(CDR), and the Auditory Word Learning Test(AVLT)were utilized to evaluate the overall mental and cognitive status of the subjects.Pearson correlation analysis was employed to investigate the relationship between structural network changes and cognitive decline.Logistic regression was performed to analyze the predictive ability of structural network changes in determining the onset of AD.Results:Compared to the stable aMCI group, the progressive aMCI group exhibited lower levels of global efficiency( P=0.002), local efficiency( P=0.007), feeder connections( P=0.003), local connections( P=0.008), and right precuneus nodal efficiency( P=0.010).Correlation analysis revealed that global efficiency( r=0.604, P=0.002), feeder connections( r=0.513, P=0.012), and right precuneus nodal efficiency( r=0.504, P=0.014)were correlated with AVLT-delay scores(baseline)in the progressive aMCI group.A logistic regression model demonstrated that global efficiency, feeder connections, and right precuneus nodal efficiency could significantly predict the onset of AD(all P<0.05, AUCunited=0.797, 95% CI: 0.684-0.884, sensitivity=73.91, 95% CI: 51.6-89.8, specificity=76.60, 95% CI: 62.0-87.7). Conclusions:Among participants with aMCI, individuals who exhibit lower global efficiency, feeder connections, or right precuneus nodal efficiency are at a higher risk of developing AD.These indicators are anticipated to serve as new targets for clinical intervention.

Objective:To compare the clinical effecacy of artificial dermal regeneration matrix (as "artificial dermis" hereafter) and flap transfer in the treatment of soft tissue defects around interphalangeal joint.Methods:Through postoperative follow-up at outpatient clinic, a retrospective study was conducted on the clinical data of 60 patients who had soft tissue defects around the interphalangeal joints and received treatment in the Department of Hand Surgery, the Sixth Hospital of Ningbo from January 2018 to January 2022. According to applied surgical procedures, patients were divided into a flap transfer group (group A, n=30) and an artificial dermis group (group B, n=30). Group A included 19 males and 11 females aged 44.83 years ± 11.56 years including 5 patients with simple soft tissue defects, and 6 with soft tissue defects and fractures, 10 with soft tissue defects with tendon and (or) ligament injuries, 3 with soft tissue defects and vessel and (or) nerve injuries, and 6 with soft tissue defects and over 2 other types of compound injuries. The defect areas ranged from 2.5 cm×1.2 cm to 5.0 cm×1.6 cm. After emergency debridement and treatment for bone and tendon injuries, the patients in group A received transfers of free flap or transfers with adjacent digit flaps or island flaps. Postoperative functional exercise started from 1-6 weeks after surgery. Patients in group B included 17 males and 13 females, aged 44.70 years ± 11.20 years and there were 6 patients with simple soft tissue defects, 6 with soft tissue defects and fractures, 9 with soft tissue defects and tendon and (or) ligament injuries, 5 with soft tissue defects and vessel and (or) nerve injuries, and 4 with soft tissue defects and over 2 other types of compound injuries. The defect area ranged from 3.1 cm ×1.3 cm to 4.5 cm × 1.8 cm. Debridement and treatment of the bone and tendon injury in group B were the same as what in group A, but the patients in group B received artificial dermis coverage other than transfer of flap. After an artificial dermis had completely vascularised, a split-thickness skin graft was performed over the neo-dermis in the second phase surgery. Postoperative functional exercise started from 1-2 weeks after artificial dermis grafting surgery. The interval time of flap transfer or split-thickness skin grafting, survival rate of flap transfer or split-thickness skin grafting, Vancouver Scar Scale(VSS), TPD and total active movement(TAM) were compared between the 2 groups. The count data were analysed by Chi-square test. All measured data were analysed by independent sample t test or Mann-Whitney U test. P<0.05 indicates a statistically significant difference. Results:The interval time of flap transfer in group A and artificial dermis grafting in group B were 2.93 days ± 2.48 days and 19.87 days ± 3.35 days, respectively. There was a statistically significant difference between the 2 groups( P<0.05). All patients were entered in postoperative outpatient follow-up for 11-14 months(12.00 months ± 0.93 months). The appearance of flaps of some patients in group A was bloated with slightly limited digit movement. In group B, the digit movement was normal, without obvious scar hyperplasia in both of the recipient and donor sites. The survival rate of flap transfer or artificial dermis graft, TPD, VSS score and TAM score for group A and group B were 96.00% ± 9.32% and 98.17% ± 3.07%, respectively, 8.67 mm ± 2.01 mm and 9.50 mm ± 1.81 mm, 3.40 ± 1.07 and 3.17 ± 0.91 and 18.30 ± 1.97 and 18.93 ± 1.64, respectively. There were no significant differences between the 2 groups( P>0.05). Conclusion:In comparison with the transfer of flap, an artificial dermis is also effective and satisfactory in the treatment of soft tissue defects around the interphalangeal joint. Further large scale and multi-centre investigations are required.

Objective To explore the clinical effect of endoscopic treatment of carpal tunnel syndrome(CTS) with subsynovial hyperplasia.Methods Thirty-eight wrists of idiopathic CTS (control group) without subsynovial connective tissue (SSCT) hyperplasia and 41 wrists of idiopathic CTS with SSCT hyperplasia (experimental group) were surgically treated under endoscope from May,2000 to September,2015,and they were retrospectively studied at clin ic.The endoscopic release of the transverse ligament of wrist was done in the control group.While in the experimental group,the SSCT around the flexor tendons in the carpal tunnel was removed additionally after transverse ligament re lease through the same incision.The varieties of sensory nerve conduction velocity (SNCV),distal motor lantacy(DML),two points of discrimination (TP).Tinel sign,Phalen sign,grip and pinch force before and after operation in both groups were statistically calculated and compared,then the excellent and good rate according to Kelly classification was calculated.The difference was considered as statistically signifcant when P＜0.05.Results For the control group and experimental group:①According to Kelly classification,the overall excellent and good rate were 94.7％ and 95.1％ respectively.There was no statistical difference between 2 groups (P＞0.05).②The positive rate of Tinel sign and Phalen sign were significantly reduced to 2.6％ and 2.4％ respectively (P＜0.05).But there was no statistical difference between 2 groups (P＞0.05).③The average TP were (3.7±1.1) mm and (3.5±0.9) mm respectively.There was no statistical difference between 2 groups (P＞0.05).④The SNCV of the 2 groups were (14.3±5) m/s and (16.1±6) m/s,and the DML of the 2 groups were (0.8±0.3) ms and(0.7±0.4) ms respectively,while there was no statistic differences regarding SNCV and DML before and after operation between the 2 groups (P＞0.05).Conclusion Similar and satisfactory recent clinical effect can be harvested with cutting transverse ligament under endoscope and removing SSCT around the flexor tendons for idiopathic CTS with SSCT hyperplasia or not.Classical open operation is not necessary for idiopathic CTS with SSCT hyperplasia.

Objective The study was to investigate the spectrum and incidence of the hot-spot deafness gene mutations from non-syndromic hearing loss(NSHL)in Guizhou province.Methods Genomic DNAs of 356 patients of NSHI in Guizhou were obtained from peripheral blood and a deafness gene test chip was used to screen nine hot spot mutation in the gene GJB2,SLC26A4,GJB3 and mitochondria 12SrRNA.Results Eighty-eight (24.72%)out of 356 patients were found carrying at least one pathogenic gene mutation.Among them,40 patients with the GJB2 mutations were found(11.24%),including 19 cases(5.34%)of homozygous matutions,5 cases(1.40%)of com-pound heterozygous mutations,and 15 cases(4.21%)of single heterozygous mutations.Twenty-nine patients with the SLC26A4 mutations were found (8.15%),including 9 cases(2.53%)of homozygous mutations and 19 cases (5.34%)of single heterozygous mutations.Homogenic mitochondrial 12SrRNA 1555A>G mutations were in 10 patients(2.81%)and 1494C>T mutations in 10 patients (0.56%),and heterogeneous mitochondrial 12SrRNA 1555A>G mutations in 7 patients(1.97%).GJB3 gene c.538C>T heterozygous mutations was found in 1 patients. Conclusion The mutations of GJB2 and SLC26A4 gene are two major pathogenic genes for patients with NSHL in Guizhou province.Our study provides a theoretical basis for the early diagnosis,genetic counseling and treatment of deafness.

Objective The hearing and speech rehabilitation effects by hearing aid use and cochlear implanta‐tion in hearing -impaired children were compared .Methods A total of infants aged from 6 months to 3 years with severe hearing loss of prelingual nature were included .They were divided into 2 groups :group 1 (18 with hearing aids) and group 2 (14 with cochlear implantation) .There was no significant difference in the degree of hearing loss and age between the 2 groups .They received rehabilitation education of the same content for a year .Their unaided and aided thresholds were tested in sound field while the IT -MAIS was used for evaluating hearing ability of two groups before and after 3 ,6 ,9 ,and 12 months of hearing aid use and cochlear implantation .Results In both groups ,hearing were better in aided conditions than those of in unaided ,while those from the cochlear group were significantly improved at more frequencies than those of the hearing aid group .In general ,the longer use and train‐ing ,the better hearing improvement .The mean scores of auditory performance in the cochlear implantation group at 6 months were significantly higher in comparison with those at 3 months (P<0 .05) .There were significant differ‐ences in mean scores between the two groups at 6 ,9 ,12 months after fitting (P<0 .05) .The verbal ability scores ,hearing and speech rehabilitation levels in the cochlear group were higher than those of in the hearing aid group (P<0 .05) .Conclusion For severe hearing loss children ,cochlear implantation could produce more noticeable effects than hearing aids .

This paper analyzed the main problems confronting support-type emergency management in general hospitals,introduced the experience and effect to strengthen the management of emergency key diseases in the hospital.The efficiency and success can be improved by implementation of institutionalized and routing management,emergency plan management based on the key diseases and strengthening the information construction and management.

Objective:To explore the changes of cerebra flow in retroperitoneoscopic surgery.Methods: Twenty-two patients undergoing retroperitoneoscopic surgery were selected.We measured Vm、Delt and PI with transcranial Dopple(TCD),and measured endothelin(ET),neurol peptide Y(NPY),Calcitonin gene-related peptide(CGRP) in plasma before CO2 insufflation,after CO2 insufflation,and after CO2 deflation.Results:Vm and Delt increased significantly at 30 min after pneumoperitonenum,and reached the peak at 90 min after pneumoperitonenum.PI decreased significantly 90 min after pneumoperitonenum.The plasma concentrations of ET and NPY increased significantly 60 min after pneumoperitonenum. Conclusion:Cerebra flow changes significantly in patients undergoing retroperitoneoscopic surgery,which is correlated to the changes of plasma CO2 and vascular bioactive substances.