Objective To investigate the features of surface electromyography （sEMG） signals in patients with lower limb dystonia and hepatolenticular degeneration， also known as Wilson disease （WD）， as well as the feasibility of sEMG as an assessment tool for lower limb dystonia in WD. Methods A total of 36 WD patients with lower limb dystonia （observation group） and 20 WD patients without lower limb dystonia （control group） were enrolled， and 20 normal subjects were enrolled as healthy group. The sEMG technique was used to measure the AEMG， MF， MPF， and iEMG values of the anterior tibial muscle， the gastrocnemius muscle， and the rectus femoris muscle in the walking state， and a Spearman’s rank correlation analysis was used to investigate the correlation of the iEMG value of the rectus femoris muscle in both lower limbs with Activities of Daily Living （ADL）， the neurological subscale of Unified Wilson’s Disease Rating Scale （UWDRS-I）， the Burke-Fahn-Marsden Dystonia Rating Scale （BFMDRS）， the Modified Ashworth Scale， and 10-meter walking time. The observation group and the healthy group were compared in terms of the symmetry index （SI） of the same-named muscles on both sides， and the correlation of SI value with scale scores and walking time was analyzed for the observation group. Results There were significant differences in iEMG values and all electromyography values of the rectus femoris muscle between the three groups （P<0.05）. In the observation group， the iEMG value of the rectus femoris muscle was negatively correlated with the ADL scale and was positively correlated with dystonia-related scales and 10-meter walking time， suggesting that the iEMG value of the rectus femoris muscle could reflect the severity of lower limb dystonia in WD. Meanwhile， there were significant differences in the SI values of bilateral muscles between the observation group and the healthy group （P<0.05）， and for the observation group， the SI values of the muscles were negatively correlated with the ADL scale and were positively correlated with other variables， suggesting that lower limb dystonia in WD was asymmetric， and the degree of asymmetry was positively correlated with the degree of dystonia. Conclusion This study shows that sEMG has a certain application value in assessing lower limb dystonia in WD patients and can be used as an assessment tool for lower limb dystonia in WD.
Dystonia

Hepatolenticular degeneration （HLD），also known as Wilson disease (WD) is an uncommon hereditary disorder of the nervous system， characterized by hepatic impairment， extrapyramidal manifestations， psychiatric symptoms， and renal dysfunction， while impaired vision is a rare comorbidity. This article conducts a retrospective analysis of visual acuity changes， treatment， and prognosis of a female patient， aged 22 years， who were diagnosed with HLD complicated by bilateral neuritis in an affiliated hospital of Anhui University of Chinese Medicine in 2022， and a literature review was performed. The findings suggest that impaired vision is a rare manifestation of HLD. Ophthalmologists should consider the possibility of HLD in patients with optic atrophy and optic neuritis， and early intravenous administration of methylprednisolone may help to improve prognosis.

BACKGROUND: Delayed platelet engraftment is a common complication after umbilical cord blood transplantation (UCBT), and there is no standard therapy. Avatrombopag (AVA) is a second-generation thrombopoietin (TPO) receptor agonist (TPO-RA) that has shown efficacy in immune thrombocytopenia (ITP). However, few reports have focused on its efficacy in patients diagnosed with thrombocytopenia after allogeneic hematopoietic stem cell transplantation (allo-HSCT). METHODS: We conducted a retrospective study at the First Affiliated Hospital of the University of Science and Technology of China to evaluate the efficacy of AVA as a first-line TPO-RA in 65 patients after UCBT; these patients were compared with 118 historical controls. Response rates, platelet counts, megakaryocyte counts in bone marrow, bleeding events, adverse events and survival rates were evaluated in this study. Platelet reconstitution differences were compared between different medication groups. Multivariable analysis was used to explore the independent beneficial factors for platelet implantation. RESULTS: Fifty-two patients were given AVA within 30 days post-UCBT, and the treatment was continued for more than 7 days to promote platelet engraftment (AVA group); the other 13 patients were given AVA for secondary failure of platelet recovery (SFPR group). The median time to platelet engraftment was shorter in the AVA group than in the historical control group (32.5 days vs . 38.0 days, Z  = 2.095, P  = 0.036). Among the 52 patients in the AVA group, 46 achieved an overall response (OR) (88.5%), and the cumulative incidence of OR was 91.9%. Patients treated with AVA only had a greater 60-day cumulative incidence of platelet engraftment than patients treated with recombinant human thrombopoietin (rhTPO) only or rhTPO combined with AVA (95.2% vs . 84.5% vs . 80.6%, P  <0.001). Patients suffering from SFPR had a slightly better cumulative incidence of OR (100%, P  = 0.104). Patients who initiated AVA treatment within 14 days post-UCBT had a better 60-day cumulative incidence of platelet engraftment than did those who received AVA after 14 days post-UCBT (96.6% vs . 73.9%, P  = 0.003). CONCLUSION Compared with those in the historical control group, our results indicate that AVA could effectively promote platelet engraftment and recovery after UCBT, especially when used in the early period (≤14 days post-UCBT).
Humans ; Female ; Male ; Thrombocytopenia/etiology* ; Adult ; Retrospective Studies ; Cord Blood Stem Cell Transplantation/adverse effects* ; Middle Aged ; Adolescent ; Young Adult ; Thiazoles/adverse effects* ; Platelet Count ; Receptors, Thrombopoietin/agonists* ; Child ; Thiophenes

Objective To establish a three-dimensional finite element model of knee joint in patients with mild knee osteoarthritis in the absence of CT and MRI with thin layer thickness,and to analyze the stress distributions of the tibial plateau.Methods A female patient with mild knee osteoarthritis was selected as the study object,and received serial CT scan from pelvis to distal tibia of fibula.The obtained files in DICOM format were imported into Mimics software for extracting the bony structures of knee joint through threshold segmentation,and then optimizing the extracted structures with Edit Masks,Cavity Fill and Region Grow.The generated model of bony structures was imported into 3-matic for smoothing and wrapping,and Geomagic Wrap was used for bony structure processing with mesh doctor inspection,surface defect repair and surface fitting.The cartilages,meniscus and ligaments were established by contour extension,and assembled with bony structures in SolidWorks in the way of origin coincidence.After defining material properties and contact relationships,meshing,and setting constraints and loads in ANSYS software,the stress distributions of the tibial plateau when standing with both legs were analyzed.Results A complete knee joint model including bony structure,cartilage and ligament was successfully established.When standing with two legs,the peak value of contact stress was about 1.21 MPa,and the maximum stress was 0.72 MPa at the medial middle of tibial plateau and lateral tibial plateau.The 62.7%and 37.3%of the total load were borne by the inner and outer compartments.Conclusion The model of the total knee joint is established with CT extraction and software rendering,and the finite element analysis results meet clinical expectations,indicating that the model established by the proposed method is reliable and can be used for follow-up research.

Objective:To investigate the eye movement characteristics of non-emotional pictures and emotion-al pictures in college students with different self-rating levels of depression.Methods:The Baker Depression Ques-tionnaire(BDI-2)was used to select 20 college students in high score group(BDI-2 score≥ 18 points)and 20 col-lege students in low score group(BDI-2 score ≤2 points).In experiment 1 the different finding tasks were used to investigate the difference of eye movement features between the two groups when viewing non-emotional pic-tures.In experiment 2 the expression recognition tasks were used to investigate the difference of the eye movement features between the two groups when viewing emotional pictures.Results:The results of experiment 1 showed that when completing the judgment task,the fixation times of each interest area of non-emotional images was smaller in the high score group than in the low score group(P＜0.01).The results of experiment 2 showed that the reaction time was longer to sad faces than to happy faces in the high score group(P＜0.05),and the correct rate to sad faces was higher in the high score group than in the low score group(P＜0.05).For the eye interest area,the first fixation arrival time was earlier in the high score group than in the low score group(P＜0.001),and the first fixa-tion time and total fixation time were shorter in the high score group than in the low score group(Ps＜0.01).Con-clusion:College students with high self-rating level of depression show a decrease of interest when viewing non-e-motional pictures,and show an advantage in processing negative emotional information and avoiding eye gaze when viewing emotional pictures.

Objective To investigate the role and potential mechanisms of tumor necrosis factor alpha-inducible protein 8-like molecule 1(TNFAIP8L1)in acute liver injury in mice.Methods The second generation of C57BL/6J male wild-type(WT)mice and the C57BL/6J female TNFAIP8L1+/-mice and WT mice were selected to further self-breed the third generation of male TNFAIP8L1-/-mice and the third generation of WT male mice.Five normal third-generation male WT mice and five normal third-generation male TNFAIP8L1-/-mice were selected.The serum alanine aminotransferase(ALT)levels of the two types of normal mice were measured and compared.The infiltration of inflammatory cells and cell necrosis in the liver tissues of the two types of normal mice were observed after hematoxylin & eosin(HE)staining.Flow cytometry was used to detect the percentages of neutrophils(Neu),eosinophils(EOS),dendritic cells(DC),bone marrow-derived macrophages(BMDMs),and bone marrow-derived mononuclear cell(BMNCs)in the liver myeloid cell subsets of the two types of normal mice.Another 5 third-generation male WT mice and 4 third-generation male TNFAIP8L1-/-mice were selected to induce acute liver injury mouse models using lipopolysaccharide(LPS)/D-galactosamine(D-Gal).After 24 hours,the serum ALT levels of the two types of acute liver injury mice were detected and compared,the infiltration of inflammatory cells and cell necrosis in the liver tissues of the two types of acute liver injury mice were observed,and the percentages of Neu,EOS,DC,BMDMs and BMNCs in the liver myeloid cell subsets of the two types of acute liver injury mice were measured by using the above methods.Results There was no significant difference in the percentages of Neu,EOS,DC,BMDMs and BMNCs,and serum ALT levels in the livermyeloid cell subsets of normal WT mice and TNFAIP8L1-/-mice(P＞0.05).HE staining results of liver tissues in normal WT mice and TNFAIP8L1/mice showed that hepatic lobules were structurally complete and clear,hepatocytes were morphologically normal and arranged neatly,and there was no obvious inflammatory cell infiltration or cell necrosis.Twenty-four hours after acute liver injury,the percentages of Neu and BMNCs in the liver myeloid cell subsets and the serum ALT levels in the liver tissues of TNFAIP8L1-/-mice were significantly higher than those of WT mice(P＜0.05);there was no significant difference in the percentages of EOS,DC and BMDMs in the liver myeloid cell subsets of mice between the two groups(P＞0.05).In the liver tissues of WT mice with acute liver injury,hepatic lobules were structurally blurred,hepatocytes were swollen with scattered vacuolated steatosis,and a small amount of inflammatory cells were infiltrated.In the liver tissues of TNFAIP8L1/mice with acute liver injury,hepatic lobules were structurally non-existent,and hepatocytes were severely damaged and extensively necrotic,with a large amount of inflammatory cell infiltration.Conclusion The deficiency of the TNFAIP8L1 gene in mice does not affect the development of liver myeloid cells and the homeostasis of the liver.TNFAIP8L1 plays an inhibitory role in the occurrence and development of acute liver injury.TNFAIP8L1 gene deficiency aggravates LPS/D-Gal-induced acute liver injury,possibly by increasing Neu and BMNCs infiltration and recruiting other types of immune cells to infiltrate liver tissues,thereby exacerbating liver cell necrosis.

In order to seek a patient friendly and low-cost intestinal examination method, a structurally simple pneumatic soft intestinal robot inspired by inchworms is designed and manufactured. The intestinal robot was consisted of two radially expanding cylindrical rubber film airbags for anchoring and one low density polyethylene film airbag for axial elongation, which achieved movement in the intestine by mimicking the crawling of inchworms. Theoretical derivation was conducted on the relationship between the internal air pressure of the anchored airbag and the free deformation size after expansion, and it pointed out that the uneven deformation of the airbag was a phenomenon of expansion instability caused by large deformation of the rubber material. The motion performance of the intestinal robot was validated in different sizes of hard tubes and ex vivo pig small intestine. The running speed in the ex vivo pig small intestine was 4.87 mm/s, with an anchoring force of 2.33 N when stationary, and could smoothly pass through a 90 ° bend. This work expects to provide patients with a new method of low pain and low-cost intestinal examination.
Animals ; Swine ; Robotics/instrumentation* ; Equipment Design ; Intestine, Small/physiology* ; Intestines/physiology* ; Humans

Objective:To compare the efficacy of pneumovesicoscopic Cohen and Politano-Leadbetter procedures in the treatment of vesicoureteral junction obstruction (VUJO) in children.Methods:The data of 48 children with VUJO who underwent operations in the Department of Urology, Anhui Provincial Children′s Hospital from January 2017 to December 2021 were retrospectively analyzed.According to the operation time, the patients were divided into the pneumovesicoscopic Cohen group(group C) (28 cases) and pneumovesicoscopic Politano-Leadbetter group(group P) (20 cases). The operation time, postoperative urinary catheterization duration, hematuria duration, hospitalization time, and the improvement of hydronephrosis, ureteral dilatation, and renal function after surgery were compared between the 2 groups.The enumeration data were compared by the χ2 test or Fisher′ s exact probability method.The measurement data were compared by the t-test. Results:All the 48 children were successfully operated on by the same surgeon, without conversion to open surgery.Six cases in the group C had a megaureter and underwent ureter tailoring.Two cases in the group P had calyceal and ureteral calculi, which were all removed after operation.There was a statistically significant difference in the operation time between group C and group P[(136.5±35.4) min vs.(165.8±33.2) min, t=-3.154, P=0.002]. The patients were followed up for (10.3±2.6) months after operation.There were 8 cases and 6 cases of urinary tract infection in group C and group P within 2 months after the operation, respectively.They all improved after conservative anti-infection treatment, and the infection was well controlled after removal of the D-J tube.Besides, their intravenous pyelography 6 months after operation showed that the ureter was unobstructed.In group C, 6 months after the operation, the anterior and posterior diameters of the renal pelvis [(1.62±0.54) cm vs.(2.55±1.24) cm, t=-5.027, P=0.001] and the largest diameter of the ureter [(0.95±0.27) cm vs.(1.51±0.52) cm, t=-8.495, P<0.001] were significantly decreased, compared with those before operation.However, the renal cortex thickness was increased significantly [(1.47±0.25) cm vs.(0.86±0.46) cm, t=2.028, P=0.004], and the renal function (as indicated by the diuretic nephrogram) was notably improved [(46.27±2.16)% vs.(41.83±3.04)%, t=1.647, P=0.030]. In group P, 6 months after operation, the anterior and posterior diameters of the renal pelvis[(1.48±0.82) cm vs.(2.68±1.41) cm, t=-2.740, P=0.003] and the maximum diameter of the ureter [(1.05±0.46) cm vs.(1.36±0.27) cm, t=-1.635, P=0.040] were significantly smaller than those before operation.However, the renal cortical thickness was increased [(1.38±0.33) cm vs.(0.74±0.39) cm, t=9.073, P<0.001], and the renal function (as indicated by the diuretic nephrogram) was significantly improved [(45.18±3.35)% vs.(39.55±2.49)%, t=1.277, P=0.030]. Politano-Leadbetter surgery outperformed Cohen surgery in promoting the recovery of the anterior and posterior diameters of the renal pelvis [(1.48±0.82) cm vs.(1.62±0.54) cm, t=-1.748, P=0.030]. Conclusions:Pneumovesicoscopic Politano-Leadbetter operation can establish a longer submucosal tunnel without changing the ureteral shape and opening position, having good effects in treating VUJO combined with calyceal and ureteral calculi.Pneumovesicoscopic Politano-Leadbetter operation can also better improve postoperative recovery from hydronephrosis than Cohen operation.However, the pneumovesicoscopic Politano-Leadbetter operation is more difficult and requires longer time.The surgeon should choose a reasonable operation based on his/her own experience.

Objective:The aim of this retrospective study is to evaluate the safety and efficacy of tislelizumab in patients with recurrent/metastatic head and neck squamous cell carcinoma. Methods:Six patients with recurrent/metastatic head and neck squamous cell carcinoma who received tislelizumab monotherapy in our hospital from 2018 to 2020 were retrospectively analyzed. The information of sex, age, TNM stage, efficacy, and adverse reactions were collected. All patients were recruited from the RATIONALE 102 study. The primary end point was the objective response rate, and other end points included progression-free survival and overall survival. We performed tumor immune-related gene sequencing and transcriptome sequencing analysis on the tumor tissues of the patient, and used bioinformatics methods to enrich immune cells and analyze signaling pathways. All analyses were performed using R 4.1. 0 software, SPSS Statistics 24.0 software and GraphPad Prism 8. Results:As of May 31, 2020, the median follow-up time was 26.35 months. The objective response rate with tislelizumab was 50.0%, the median progression-free survival was 6.44 months, and the estimated median survival was 20.07 months. The incidence of grade 3 or higher adverse reactions was 66.7%, including hyponatremia, hypokalemia, hypercalcemia, etc. The expression of macrophage, Treg and neutrophil-related genes are higher in immune-sensitive patients, and the signaling pathways of the intestinal immune network for IgA production, graft versus host disease and autoimmune thyroid disease are significantly activated. Conclusion:Tislelizumab was found to be controllable and tolerable in patients with recurrent/metastatic head and neck squamous cell carcinoma. The response to tislelizumab is related to immune cell infiltration and activation of immune-related signaling pathways.
Humans ; Squamous Cell Carcinoma of Head and Neck/etiology* ; Retrospective Studies ; Carcinoma, Squamous Cell/pathology* ; Neoplasm Recurrence, Local/pathology* ; Head and Neck Neoplasms ; Antineoplastic Combined Chemotherapy Protocols

Objective    To establish the gene-based esophageal cancer (ESCA) risk score prediction models via whole transcriptome analysis to provide ideas and basis for improving ESCA treatment strategies and patient prognosis. Methods    RNA sequencing data of esophageal squamous cell carcinoma (ESCC), esophageal adenocarcinoma (EAC) and adjacent tissues were obtained from The Cancer Genome Atlas database. The edgeR method was used to screen out the differential genes between ESCA tissue and normal tissue, and the key genes affecting the survival status of ESCC and EAC patients were initially identified through univariate Cox regression analysis. The least absolute shrinkage and selection operator regression analysis and multivariate Cox regression analysis were used to further screen genes and establish ESCC and EAC risk score prediction models. Results    The risk score prediction models were the independent prognostic factors for ESCA, and the risk score was significantly related to the survival status of patients. In ESCC, the risk score was related to T stage. In EAC, the risk score was related to lymph node metastasis, distant metastasis and clinical stage. The constructed nomogram based on risk score showed good predictive ability. In ESCC, the risk score was related to tumor immune cell infiltration and the expression of immune checkpoint genes. However, this feature was not obvious in EAC. Conclusion 聽 聽The ESCC and EAC risk score prediction models have shown good predictive capabilities, which provide certain inspiration and basis for optimizing the management of ESCA and improving the prognosis of patients.