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 investigate the effectiveness and feasibility of a 3D U-Net in conjunction with a three-phase CT image segmentation model in the automatic segmentation of GTVnx and GTVnd in nasopharyngeal carcinoma.Methods:A total of 645 sets of computed tomography (CT) images were retrospectively collected from 215 nasopharyngeal carcinoma cases, including three phases: plain scan (CT), contrast-enhanced CT (CTC), and delayed CT (CTD). The dataset was grouped into a training set consisting of 172 cases and a test set comprising 43 cases using the random number table method. Meanwhile, six experimental groups, A1, A2, A3, A4, B1, and B2, were established. Among them, the former four groups used only CT, only CTC, only CTD, and all three phases, respectively. The B1 and B2 groups used phase fine-tuning CTC models. The Dice similarity coefficient (DSC) and 95% Hausdorff distance (HD95) served as quantitative evaluation indicators.Results:Compared to only monophasic CT (group A1/A2/A3), triphasic CT (group A4) yielded better result in the automatic segmentation of GTVnd (DSC: 0.67 vs. 0.61, 0.64, 0.64; t = 7.48, 3.27, 4.84, P < 0.01; HD95: 36.45 vs. 79.23, 59.55, 65.17; t = 5.24, 2.99, 3.89, P < 0.01), with statistically significant differences ( P < 0.01). However, triphasic CT (group A4) showed no significant enhancement in the automatic segmentation of GTVnx compared to monophasic CT (group A1/A2/A3) (DSC: 0.73 vs. 0.74, 0.74, 0.73; HD95: 14.17 mm vs. 8.06, 8.11, 8.10 mm), with no statistically significant difference ( P > 0.05). For the automatic segmentation of GTVnd, group B1/B2 showed higher automatic segmentation accuracy compared to group A1 (DSC: 0.63, 0.63 vs. 0.61, t = 4.10, 3.03, P<0.01; HD95: 58.11, 50.31 mm vs. 79.23 mm, t = 2.75, 3.10, P < 0.01). Conclusions:Triphasic CT scanning can improve the automatic segmentation of the GTVnd in nasopharyngeal carcinoma. Additionally, phase fine-tuning models can enhance the automatic segmentation accuracy of the GTVnd on plain CT images.

Objective:To explore the anger emotional state,traits and expression characteristics in patients with schizophrenia with violent behavior in community.Methods:Twenty-five patients with schizopnrenia with a history of violent behavior among the community rehabilitation institutions were selected as the violent behavior group,and 74 patients with schizopnrenia without a history of violent behavior were selected as the nonviolent behavior group.The Brief Psychiatric Rating Scale(BPRS)was used to assess psychiatric symptoms,and the State-Trait An-ger Expression Inventory(STAXI)was used to assess anger characteristics.Results:Compared with the nonviolent behavior group,the violent behavior group had significantly higher scores in the trait of anger(patient dimension score,rational dimension score)and expression of anger(total score,restraint dimension score)[(28.0±23.8)vs.(19.6±13.3),(55.0±30.6)vs.(40.0±21.5),(34.2±11.6)vs.(27.3±10.7),(56.0±26.1)vs.(33.7±21.1),Ps＜0.05].Higher scores of rationality dimension of anger trait(OR=3.69,95％CI:1.43-7.98)and re-straint dimension of anger expression(OR=3.25,95％CI:1.39-7.47)were risk factors for violent behaviors.Conclusion:Compared with patients with schizopnrenia without violent behavior,patients with violent behavior history may show more lack of rationality,and poorer anger restraint.

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 investigate the one-stage surgical treatment method and short-term therapeutic effect for combined anterior cruciate ligament (ACL) injury in Schatzker IV-VI tibial plateau fractures.Methods:A retrospective study was conducted on 79 patients with Schatzker IV-VI tibial plateau fractures who underwent surgical treatment at the Department of Traumatic Orthopedics in The Third Affiliated Hospital of Soochow University from April 2016 to February 2021 and there were 47 males and 32 females with a mean age of 51.5±13.2 years (ranging from 21 to 73 years old). Combined with preoperative MRI manifestations, meniscus injuries and avulsion fractures of collateral ligament complex were all repaired in one stage, primary reconstruction was not performed for the combined substantive injury of ACL body, and the displaced avulsion fracture of ACL insertion was only reduced without separate fixation during open reduction and internal fixation for fractures. Visual analogue scale (VAS), knee flexion range of motion, and American Hospital for Special Surgery Knee Joint (HSS) scores were used to evaluate the treatment outcomes at 3, 6, and 12 months postoperatively and the last follow-up.Results:All 79 patients successfully completed the surgery and were followed up for 23.6±2.2 months. The incidence of combined ACL injury was approximately 23% (18/79) with the main manifestation being intercondylar ridge avulsion fracture of ACL (10/18, 56%), which was more common in SchatzkerIV fractures (60%, 6/10). Postoperative KT-1000 measurements on the side-to-side difference in forward displacement of the healthy and affected knee joint showed no significant change in patients with ACL avulsion fracture and body injury, and there was no statistically significant difference compared to the normal range ( P>0.05). No statistically significant difference could be observed in postoperative VAS between ACL avulsion fracture, ACL body injury, and non-ACL injury groups ( P>0.05). At 3, 6, 12 months and the last follow-up after surgery, knee flexion range of motion in patients with intercondylar eminence avulsion fracture of ACL 99.7°±8.9°, 110.5°±10.3°, 120.9°±10.5°, and 121.5°±10.2° was lower than that in patients without ACL injury 106.5°±10.1°, 119.1°±9.8°, 128.3°±10.4°, and 128.3°±9.3°, and the differences were statistically significant ( P<0.05). At 3 and 6 months after surgery, patients with intercondylar eminence avulsion fracture of ACL had lower HSS scores 72.7±5.3 and 80.4±4.6 points compared to those without ACL injury 76.3±4.1 and 83.6±4.5 points, and the differences were statistically significant ( P<0.05). Conclusion:During the surgical treatment of Schatzker IV-VI tibial plateau fractures, it is feasible to treat possible concomitant injuries such as meniscus on the basis of reduction and fixation of the fracture without reconstructing the ACL in one stage, and to treat displaced ACL intercondylar eminence avulsion fractures by correct reduction without separate fixation. This treatment method can achieve good short-term postoperative outcomes.

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.

Alveolar ridge preservation (ARP) has developed rapidly as a method for preserving the alveolar socket's bone volume after tooth extraction. ARP can create conditions for implant restoration, and reduce operation difficulties by decreasing alveolar ridge absorption. There are certain difficulties of ARP applicationin patients with tooth extracted due to periodontitis. This paper mainly introduces the characteristics of ARP, compares the similarities and differences among ARP, guided tissue regeneration, guided bone regeneration and immediate implant, and then summarizes their advantages and disadvantages. The paper focuses on the specificity of ARP and the progress of ARP application in patients with tooth extracted due to periodontitis, in order to offer direction for clinical application and future research on ARP.

Objective:To investigate the specific types of lateral meniscus injury in Schatzker type II tibial plateau fractures and its potential correlation with CT features of the lateral plateau.Methods:The data of 213 patients with Schatzker II tibial plateau fractures from August 2014 to June 2021 were retrospectively analyzed, including 132 males and 81 females, aged from 29 to 61 years, with an average of 44.9 years. All patients underwent arthroscopic evaluation of fracture reduction immediately after open reduction and internal fixation (ORIF). According to the actual situation during the operation, the types and locations of lateral meniscus injury were determined and the patients were divided into the meniscus injury group and non-injury group. By measuring lateral plateau depression (LPD) and lateral plateau widening (LPW) of the lateral tibial plateau on CT images, the correlation of which and lateral meniscus injury was analyzed. The optimal critical values of LPD and LPW for predicting lateral meniscus injury were obtained by drawing the relevant receiver operating characteristic (ROC) curves.Results:The meniscus injury group (109 patients) mainly showed injuries involving the mid-body and posterior horn of lateral meniscus (98.2%, 107/109) and LPD was 13.1±3.2 mm; while the LPD of 104 patients without meniscus injury was 9.1±3.0 mm with a statistical difference ( t=3.98, P<0.001). The LPW of meniscus injury group and non-injury groups was 8.0±1.3 mm and 6.7±1.6 mm, respectively, and the difference was statistically significant ( t=2.68, P=0.011). The optimal predictive critical point of LPD and LPW was 7.6 mm (sensitivity 90.3%, specificity 64.7%, area under the curve 0.834) and 7.3 mm (sensitivity 80.5%, specificity 58.8%, area under the curve 0.722). Conclusion:Schatzker II tibial plateau fractures combined with lateral meniscus injury is usually characterized by meniscus-joint capsule separation, rupture and longitudinal fracture. The mid-body and posterior horn of lateral meniscus injury is more likely to occur when LPD> 7.6 mm and/or LPW> 7.3 mm on coronal CT images.

Objective:To explore the sequence of reduction and fixation in the treatment of middle and lower tibiofibular fractures on the same plane using tibial intramedullary nailing plus fibular plating.Methods:A retrospective analysis was performed of the 58 patients with middle and lower tibiofibular fractures on the same plane from January 2016 to December 2017. They were 38 males and 20 females, aged from 20 to 65 years (average, 40 years). The left side was affected in 30 cases and the right in 28. By the AO classification, 27 cases were type 42-A, 18 ones type 42-B and 13 ones type 42-C. Of them, 33 had the fibula reduced and fixated first (the fibular group) while 25 had the tibia reduced and fixated first (the tibial group). The 2 groups were compared in terms of operation time, rate of tibial closed reduction, rate of dynamization of intramedullary nails, fracture healing time and postoperative complications.Results:All the patients were followed up for 12 to 24 months (average, 17.2 months). The operation time in the fibular group was 96 minutes ± 15 minutes, significantly shorter than that in the tibial group (116 minutes ± 19 minutes)( P<0.05). The rate of tibial closed reduction was 84.8% (28/33) in the fibular group and 60.0%(15/25) in the tibial group, presenting a significant difference ( P<0.05). There were no significant differences between the 2 groups in the rate of dynamization of intramedullary nails, fracture healing time or postoperative complications ( P>0.05). Conclusions:Tibial intramedullary nailing plus fibular plate osteosynthesis is an effective treatment for the middle and lower tibiofibular fractures on the same plane. When the fracture line is not located in the narrow segment of the tibia, reduction and fixation of the fibula first is advantageous over reduction and fixation of the tibia first, because it can facilitate tibial reduction and nail placement and improve surgical efficiency without increasing the fracture healing time.