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 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.

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.

The CRISPR/Cas9 gene editing system has been widely used in basic research, gene therapy and genetic engineering due to its high efficiency, fast speed and convenience. Meanwhile, the discovery of novel CRISPR/Cas systems in the microbial community also accelerated the emergence of novel gene editing tools. CRISPR/Cpf1 is the second type (V type) CRISPR system that can edit mammalian genome. Compared with the CRISPR/Cas9, CRISPR/Cpf1 can use 5'T-PAM rich region to increase the genome coverage, and has many advantages, such as sticky end of cleavage site and less homologous recombination repair. Here we constructed three CRISPR/Cpf1 (AsCpf1, FnCpf1 and LbCpf1) expression vectors in silkworm cells. We selected a highly conserved BmHSP60 gene and an ATPase family BmATAD3A gene to design the target gRNA, and constructed gHSP60-266 and gATAD3A-346 knockout vectors. The efficiency for editing the target genes BmATAD3A and BmHSP60 by AsCpf1, FnCpf1 and LbCpf1 were analyzed by T7E1 analysis and T-clone sequencing. Moreover, the effects of target gene knockout by different gene editing systems on the protein translation of BmHSP60 and BmATAD3A were analyzed by Western blotting. We demonstrate the CRISPR/Cpf1 gene editing system developed in this study could effectively edit the silkworm genome, thus providing a novel method for silkworm gene function research, genetic engineering and genetic breeding.
Animals ; Bombyx/metabolism* ; CRISPR-Cas Systems/genetics* ; Endonucleases/genetics* ; Gene Editing ; RNA, Guide/genetics*

Objective:To explore the efficacy of small incision open reduction and internal fixation and arthroscopic high strength non-absorbable suture in the treatment of tibial avulsion fracture of anterior cruciate ligament (ACL).Methods:The clinical data of 72 patients with ACL tibial avulsion fracture treated in Shantou Central Hospital from April 2018 to April 2020 were analyzed retrospectively. The patients were randomly divided into control group ( n=36) and experimental group ( n=36). The control group was treated with small incision open reduction and internal fixation and the experimental group was treated with high intensity non-absorbable suture under arthroscopy. The general data, surgical indexes and postoperative adverse reactions of the two groups were compared, and the knee joint function indexes of the two groups before and after treatment were compared and evaluated by random walking model. The counting data were expressed by percentage, the comparison between groups was expressed by chi-square test, the measurement data was expressed by mean ±standard deviation, the independent t-test was used for inter-group comparison, and the paired t-test was used for intra-group comparison. Results:There was no significant difference in general information, intraoperative blood loss, preoperative Lysholm score, IKDC score, Tegner score, knee mobility, and bilateral tibial displacement distance between the two groups of patients ( P>0.05). In the experimental group, the operation time, hospitalization time, the first postoperative time to move to the ground, bone healing time, and the total incidence of adverse reactions were (68.41±7.65) min, (11.93±3.24) d, (6.37±1.85) d, (23.65± 2.28) weeks, 2.78% (1/36), the control group were (55.37±8.62) min, (13.45±2.96) d, (8.16±2.08) d, (25.79±2.46) weeks, 22.22% (8/36), the difference between the two groups was statistically significant ( P<0.05). The Lysholm score, IKDC score, Tegner score, range of motion of the knee joint, and the difference of bilateral tibial displacement distance after treatment in the experimental group were (85.27±5.28) points, (85.43±1.74) points, and (6.65±1.41) points, respectively. (108.45±5.79)°, (1.12±0.65) mm, the control group was (79.73±4.69) points, (80.37±1.59) points, (5.72±1.31) points, (97.58±5.42)°, (2.24±0.72) mm, the difference between the two groups was statistically significant ( P<0.05). Random walking model evaluation the improvement of knee joint function in the experimental group was significantly better than that in the control group. Conclusion:Arthroscopic treatment of ACL tibial avulsion fracture with high-intensity non-absorbable suture can significantly improve the knee joint function of patients with rapid recovery and high safety, so it has a broad prospect of clinical application.

Objective:To investigate the effects of internal fixation with pedicle screw via modified Wiltse approach combined with transpedicular bone grafting on the vertebral body and complications of senile osteoporotic vertebral compression fractures (OVCF) .Methods:Ninety-four elderly patients with osteoporotic vertebral compression fractures who were admitted to Hangzhou Fuyang Traditional Chinese Medicine Orthopedics Hospital from Oct. 2018 to Oct. 2019 were selected as the research objects. The patients were divided into control group and observation group according to the random ball touch method. For 47 cases, the control group underwent posterior short-segment reduction and internal fixation combined with transpedicular bone grafting, and the observation group underwent modified Wiltse approach pedicle internal fixation combined with transpedicular bone grafting. The two groups were observed and compared in terms of surgery related indicators, the condition of the injured vertebrae, the recovery of the vertebral body, the length of hospitalization and fracture healing time, and the incidence of complications.Results:In comparison of the operation-related indexes between the two groups, the intraoperative blood loss, 3d postoperative visual analogue scale (VAS) score and operation time of the observation group were significantly lower, than those of the control group ( P<0.05) . In comparison of the condition of the injured vertebrae between the two groups, there was no significant difference in the ratio of the loss rate of the injured vertebrae Cobb angle, vertebral body sagittal plane index, and vertebral body height between the two groups before operation ( P>0.05) . The loss rates of Cobb angle and vertebral body height of the injured vertebrae in the two groups were lower than that before operation at 3 days after operation, and the sagittal index of the vertebral body was higher than before operation at 1 year after operation ( P<0.05) . The loss rate of Cobb angle and vertebral body height of the injured vertebral body in the observation group was significantly lower than that of the control group at 3 days postoperatively, and the vertebral body sagittal plane index was significantly higher than that of the control group at 1 year postoperatively ( P<0.05) . Comparing the recovery of injured vertebrae between the two groups, there was no statistically significant difference between the preoperative oswestry disability index (ODI) scores of the two groups ( P>0.05) , the improvement rate of Cobb angle and the recovery rate of vertebral body height in the observation group, ODI scores at 3 months after operation were significantly higher than those of the control group ( P<0.05) . The hospitalization time and fracture healing time of the observation group were significantly lower than those of the control group ( P<0.05) . The total incidence of complications in the observation group (4.26%) was significantly lower than the total incidence of complications in the control group (19.15%) ( P<0.05) . Conclusion:The combined use of internal fixation with pedicle screw via modified Wiltse approach combined with transpedicular bone grafting in treatment of elderly OVCF can reduce the amount of intraoperative blood loss, shorten the operation time and hospital stay and fracture healing time, improve the Cobb angle of the injured vertebra, promote the recovery of the height and function of the injured vertebra, and reduce the incidence of complications.

Objective:To describe the treatment of the first carpometacarpal arthritis in Eaton Ⅱ, Ⅲ combining the hemi excision of trapezium with tendon ball and evaluate its clinical efficacy.Methods:Data of patients with the first carpometacarpal arthritis who were treated by hemi excision of trapezium and tamponade of the tendon ball from March 2013 to October 2018 were retrospectively analyzed. Twelve patients were all females with an average age of 55±2.8 years (range, 48-61 years). There were 3 cases of left thumbs and 9 cases of right. The study was only researched with primary osteoarthritis patients, preoperative imaging Eaton stages, including 8 cases inⅡstage, 4 cases in Ⅲ stage. Postoperative X-ray examination was performed, and the subsidence rate of the first metacarpal bone was evaluated according to height of arthroplasty. Preoperative and postoperative pain was evaluated according to visual analogue scales (VAS) score and DASH score. Preoperative and postoperative finger movement was evaluated according to the changes in preoperative and postoperative grip and pinch force.Results:The average follow-up period was 12±4.8 months (range, 6-17 months). The mean score of VAS after operation was 1.2±1.0 which was lower than 6.3±1.5 before operation ( t=13.4, P=0.0001); DASH score after operation was 26.2±9.6 which was lower than 48.9±13.0 before operation ( t=5.7, P=0.0001); Grip force after operation was 25.5±6.8 kg which was higher than 15.0±2.9 kg before operation ( t=7.3, P=0.0001); Pinch force after operation was 3.2±0.8 kg which was higher than 2.1±0.4 kg before operation ( t=3.6, P=0.0045), and all of these four above data has statistic difference. At the latest postoperative follow-up, the height index of arthroplasty was 0.299±0.022, and there was no significant change ( F=1.337, P=0.276) when compared with 0.306±0.021 before surgery and 0.313±0.024 after surgery. After the operation, 2 patients presented with incision redness and swelling and exudation. It was considered that local hematoma in the intra-articular operation could not be completely absorbed. After several dressing changes, the redness and swelling subsided and the exudation was controlled. Conclusion:Preserving the proximal joint surface of trapezium and tamponading tendon ball, could reduce the subsidence rate of the first metacarpal bone and alleviate the pain of the first carpometacarpal joint, thus may effectively improve the joint function. It has a significant effect on the treatment of Eaton Ⅱ,Ⅲ stage of the first carpometacarpal arthritis.

Objective:To explore the relationship of risk factors and clinical features to assessments of children with cerebral palsy (CP ) using a magnetic resonance imaging classification system (MRICS).Methods:Medical records of CP patients under 18 years old were reviewed retrospectively. Data including high-risk factors, cranial MRI results and clinical characteristics were collected. The cranial MRI results were classified according to the MRICS.Results:Of 1357 patients studied, 1112 (82%) had received cranial MRI scans. Among them, 962 (86.5%) showed MRI-identified brain abnormalities, 489 in the periventricular white matter. Subjects with different weeks of gestation, birth weights, delivery times, neonatal hypoxic-ischemic encephalopathy, and neonatal cerebral hemorrhage had significantly different MRI classifications according to the system. Premature birth, low birth weight and multiple births correlated with the incidence of white matter brain injury. Only 4 of the subjects with neonatal cerebral hemorrhage were classified as having normal brain structures using the MRICS. However, gender, birth method, and pathological jaundice had no significant relationship with MRICS ratings. Significant differences in MRICS classifications were observed between patients with different CP subtypes, gross motor function scores, as well as with or without epilepsy, speech or language impairment. But degrees of mental retardation were not significantly related with MRICS classifications.Conclusion:MRICS classifications relate closely with risk factors and the clinical characteristics of CP patients. The system can play an important role in finding pathogenesis and predicting clinical outcomes. It is worthy of applying and promoting in the clinic.

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.