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Objective Amyotrophic lateral sclerosis(ALS)is a progressive and fatal neurodegenerative disease.Mutations in the Cu/Zn superoxide dismutase 1 gene(SOD1)have been identified as the cause of familial ALS.Sequencing the SOD1 gene may be helpful for patients with a suspected family history of ALS.This article reports for the first time a case of amyotrophic lateral sclerosis with SOD1-p.A5S mutation in Han Chinese and summarizes its clinical characteristics.Method and Results This is the first report on Chinese Han of ALS with SOD1-p.A5S mutation and review of relevant case literature to summarize its clinical characteristics.The study case is a 34-year-old male who was admitted to the Neurology Department of The First Affiliated Hospital of Xi'an Jiaotong University with a complaint of"weakness in both lower limbs for 2 years,worsening with both hands for 6 months".The main clinical manifestations were progressive limb weakness,no swallowing difficulties or cognitive impairment.Further improvement of routine examinations and electromyography after admission were made to rule out other diagnoses,and genetic testing was conducted.Based on the patient's typical clinical manifestations and evidence of involvement of lower motor neurons in the cervical,thoracic,and lumbar spinal cord areas indicated by electromyography,other diagnoses and characteristic gene testing results were reasonably excluded,and ALS was diagnosed.The genetic testing results indicated that the patient had a heterozygous mutation in SOD1 exon 1,c.13G>T(p.A5S),and his mother had a suspicious medical history but died without genetic verification.After discharge,the follow-up period lasted until August 21,2022,with a total of 38 months and a course of 62 months.Further review of the clinical characteristics of other patients with the same site mutation reported in the literature reveals that the progress of this patient with the mutation was slower than that of other patients with the same site mutation reported in the literature.Conclusion This study shows that gene sequencing is a powerful tool for diagnosing familial ALS.The mutation of c.13G>T(p.A5S)in exon 1 of SOD1 is a rare pathogenic variation.The progress of patients with this subtype is slow,which further indicates that gene detection has important value in the diagnosis and prognosis of ALS.
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Objective@#To evaluate the influence of electronic sports games on children s acquisition of basic motor skills, so as to provide assistance for childrens acquisition of basic motor skills in the context of digital society.@*Methods@#Computer searches were conducted on CNKI, Web of Science, Cochrane Library and PubMed databases from March 2012 to March 2022. Methodological quality of included studies was evaluated using the Cochrane bias risk assessment tool RoB 2 and the extension tools RoB 2 Cluster and ROBINS-I. Publication bias assessment, heterogeneity test, subgroup analysis and Meta analysis were performed using RevMan 5.3.@*Results@#A total of 12 studies included 897 participants, 7 randomized controlled trials, 2 cohort randomized controlled trials and 3 non randomized trials. Among them, 2 items had a low risk of bias, 8 items had certain risks and 2 items had a high risk of bias. Measures of basic motor skills in children from 12 studies included object control skills, motor skills, coordination, agility and balance. The results of Meta analysis showed that electronic sports games had a positive effect on children s acquisition of basic motor skills ( SMD=0.81, 95%CI=0.46-1.17, P <0.05).@*Conclusion@#Children can generate positive interactive communication behavior through physical activity and digital screen, and then promote the development of basic motor skills.
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"Biochemical Engineering Experiment" is a compulsory curriculum for the concentrated practical teaching of biotechnology majors in Hunan University of Science and Engineering. It is also an experimental curriculum for improving the overall quality of bioengineering students under the context of "Emerging Engineering Education". The course includes comprehensive experiments and designable experiments, and the contents of which are designed by combining the local characteristic resources of Yongzhou, the research platform and the characteristics of the talents with engineering background. In the teaching practice, methods such as heuristic teaching, research cases-embedded teaching and interactive teaching are comprehensively used to boost students' interest in learning and stimulate their innovative thinking and application capability. Through curriculum examination and post-class investigation, it was found that the students' abilities of knowledge transfer and application were significantly improved, and they achieved excellent performances in discipline competitions and approved project proposals. The practice and continuous improvement of this course may facilitate fostering high-level innovative and application-oriented talents of biotechnology majors.
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Humans , Curriculum , Students , Learning , Bioengineering , Biomedical EngineeringABSTRACT
Brain glioma invariably relapses since the tumor is difficult to remove completely. Accurate identification of tumor subtypes and tracing of tumor boundaries intraoperatively are the key clinical issues. Raman spectroscopy has a good application prospect in the intraoperative diagnosis of brain glioma due to its advantages of nondestructive, label-free, histology imaging and high specificity. In this article, the research and application of Raman spectroscopy in the in vitro diagnosis and intraoperative navigation-related diagnosis and treatment of brain glioma are reviewed.
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Aristolochic acid nephropathy (AAN) is a rapidly progressive renal interstitial fibrosis caused by medical or environmental exposure to aristolochic acid (AA). Since the outbreak of AAN in Belgium was reported nearly 30 years ago, the safety of herbal remedies has drawn considerable attention, and AAN has become a global public health problem. Breakthroughs have been made to better understand the disease, including the toxicity of AAs, the possible mechanisms of AAN, the disease patterns, and the pathological features; however, some critical problems remain unresolved. Because of the insidious onset of the disease, the incidence of AAN and the prevalence of exposure to AAs are unknown and might be largely underestimated. During the past decades, AA-containing herbs have been strictly administrated in many regions and the occurrence of AAN has declined sharply, yet cases of AAN are still sporadically reported. Despite the progress in the understanding of the disease’s pathogenesis, there is no effective treatment for delaying or reversing the renal deterioration caused by AAN. Therefore, the risk of exposure to AAs should be taken seriously by public health workers and clinicians. In this review, we updated the latest data on AAN, summarized the advances throughout these years, and put forward some challenges for future research.
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【Objective】 To explore the factors affecting Babinski sign in amyotrophic lateral sclerosis (ALS). 【Methods】 We enrolled 262 patients diagnosed with ALS with adequate data in Department of Neurology, The First Affiliated Hospital of Xi’an Jiaotong University from 2015 to 2020. The relationship between the clinical characteristics of patients with positive and negative Babinski sign was analyzed for both sides, respectively. Furthermore, for patients with left or right lower limb weakness complaint, the relationship between Babinski sign and the lower limb involvement characteristics was analyzed. 【Results】 Positive Babinski sign was positively correlated with higher diagnostic category (left correlation coefficient 0.297, P<0.001; right correlation coefficient 0.292, P<0.001). Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R) score was lower in patients with positive Babinski sign (left P=0.001, right P=0.001); the proportion of complaints of ipsilateral lower limb weakness was higher (left P=0.008, right P=0.038); the positive rate of ipsilateral upper limb Hoffmann sign was higher (left P=0.004, right P=0.002). In patients with complaints of lower limb weakness, positive Babinski sign was positively correlated with better foot dorsiflexor muscle strength (left correlation coefficient 0.207, P=0.021; right correlation coefficient 0.264, P=0.003), and the proportion of ipsilateral tibialis anterior atrophy was lower in positive Babinski sign group (left P<0.001, right P=0.008); the ratio of ipsilateral common peroneal nerve compound muscle action potential (CMAP)/tibial nerve CMAP was different in positive Babinski sign and negative groups (left P=0.008, right P=0.015), which were positively correlated (left correlation coefficient 0.246, P=0.007; right correlation coefficient 0.223, P=0.015). 【Conclusion】 Patients with positive Babinski sign usually have a higher diagnostic category and more extensive clinical involvement. In ALS patients with complaints of lower limb weakness, Babinski sign is more likely to be elicited when the degree of weakness and atrophy of the anterior calf muscles is relatively low.
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Objective:To investigate the efficacy and safety of accelerated epithelium-off corneal collagen cross-linking (CXL) in the treatment of corneal ectasia after keratorefractive surgery.Methods:An observational case series study was performed.Twelve patients (22 eyes) diagnosed with corneal ectasia after keratorefractive surgery in the First Affiliated Hospital of Army Medical University were enrolled from January 2016 to December 2018.All the patients received accelerated epithelium-off CXL and were followed up for 12 months.Before and 1 week, 1, 3, 6, and 12 months after the operation, the uncorrected visual acuity (UCVA) and best corrected visual acuity (BCVA) converted to the logarithm of the minimum angle of resolution (LogMAR) unit were measured.The sphericity, cylindricity, and spherical equivalent were examined by Topcon auto refractor.The maximum keratometry (Kmax) of the front surface, mean keratometry (Km) of the front surface, Km of the back surface, symmetry index of front surface (SIf), symmetry index of back surface (SIb), thinnest corneal thickness (TCT), total aberrations, total high-order aberrations, coma aberration, trefoil aberration and spherical aberration were detected by the Sirius analyzer.The depth of corneal demarcation lines was determined by optical coherence tomography.The intraocular pressure was measured by the non-contact tonometry.The corneal endothelial cell density was assayed by the endothelial cell densitometry.The inflammatory reaction and haze were observed with a slit lamp at different time points after surgery.This study adhered to the Declaration of Helsinki.The study protocol was approved by the First Affiliated Hospital of Army Medical University (No.KY2020063). Written informed consent was obtained from each patient before entering the cohort.Results:Among the 22 eyes of 12 cases, 3 eyes of 2 cases (13.64%) underwent small incision lenticule extraction, and 19 eyes of 10 cases (86.36%) underwent excimer laser in situ keratomileusis.The UCVA (LogMAR), BCVA (LogMAR), cylindricity and spherical equivalent before the operation were 0.61±0.42, 0.24±0.23, (-2.83±2.39)D, (-3.60±2.66)D, which were significantly worse than 0.45±0.31, 0.12±0.15, (-2.11±1.67)D, (-3.12±2.31)D at 12 months after the operation ( t=4.054, 4.956, -3.728, -2.742; all at P<0.05). The front surface Kmax, front surface Km and SIf at 12 months after the operation were (48.37±5.80), (41.49±3.04), (5.36±4.07)D, which were significantly lower than (49.61±5.97), (41.66±2.97), (5.85±4.18)D before the operation ( t=5.949, 2.278, 2.719; all at P<0.05). There was no significant difference in sphericity, Km of the back surface, SIb, TCT, total aberrations, total high-order aberrations, coma aberration, trefoil aberration, spherical aberration, intraocular pressure and endothelial cell density between before and 12 months after the operation (all at P>0.05). Grade 0.5-2 haze occurred in 8 eyes of 4 patients one month postoperatively.After administration of prednisolone acetate eye drops, haze decreased or disappeared 3 months postoperatively, with UCVA and BCVA unchanged.A corneal demarcation line with a depth of (285.40±51.61)μm was found in 11 eyes of 6 cases at 1 month after operation. Conclusions:Accelerated epithelium-off CXL can significantly improve visual acuity, reduce corneal astigmatism and corneal curvature, as well as effectively prevent the progress of corneal ectasia.
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The relationship between chronic psychological stress and tumorigenesis has been well defined in epidemiological studies; however, the underlying mechanism remains underexplored. In this study, we discovered that impaired macrophage phagocytosis contributed to the psychological stress-evoked tumor susceptibility, and the stress hormone glucocorticoid (GC) was identified as a principal detrimental factor. Mechanistically, GC disturbed the balance of the "eat me" signal receptor (low-density lipoprotein receptor-related protein-1, LRP1) and the "don't eat me" signal receptor (signal regulatory protein alpha, SIRPα). Further analysis revealed that GC led to a direct, glucocorticoid receptor (GR)-dependent trans-repression of LRP1 expression, and the repressed LRP1, in turn, resulted in the elevated gene level of SIRPα by down-regulating miRNA-4695-3p. These data collectively demonstrate that stress induces the imbalance of the LRP1/SIRPα axis and entails the disturbance of tumor cell clearance by macrophages. Our findings provide the mechanistic insight into psychological stress-evoked tumor susceptibility and indicate that the balance of LRP1/SIRPα axis may serve as a potential therapeutic strategy for tumor treatment.
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Objective:To explore any effect of working memory training on executive functioning and ability in the activities of daily living after a stroke.Methods:Forty-six stroke survivors were randomly divided into an experimental group and a control group, each of 23. Both groups received conventional cognitive rehabilitation (including computer-assisted cognition training and virtual reality training using upper limb rehabilitation robots), while the experimental group also received working memory training. Before, as well as after 4 and 8 weeks of the treatment, both groups′ executive functioning was evaluated using the Trail Making test, the Frontal Assessment Battery and the Wisconsin Card Sorting Test-64. Ability in the activities of daily living was quantified using the functional independence measures (FIMs).Results:There were no significant differences between the two groups in any of the measurements before the training. After 4 weeks the average scores of the experimental group on all four instruments were significantly higher than the control group′s averages. After 8 weeks the average scores had improved significantly more. The treatment group performed significantly better than the control group throughout.Conclusions:Working memory training can improve executive functioning and the daily life of stroke survivors.
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Objective:To observe the relationship between extended Barthel index (EBI) values and functional independence measures (FIMs) in quantifying the ability in the activities of daily living (ADL) of stroke survivors.Methods:Eighty-six stroke survivors′ ADL ability was assessed using the FIM and the EBI and the results were compared.Results:The inter-rater reliability (ICC) of the EBI was 0.866 and the Spearman correlation coefficient relating the EBI and FIM results was 0.972. The 4 ADL functional levels of the EBI were strongly correlated with the 8 ADL functional levels of the FIMs ( χ2=187, P≤0.001). The complete dependence and extreme dependence ratings of the FIMs (18-35 points) corresponded to the EBI′s " completely needed" . Severe and moderate dependence (36-71 points) corresponded to a lot of help needed. Mild dependence, conditional independence or very mild dependence (72-107 points) corresponded to some help needed. Basic independence and complete independence (108-126 points) corresponded to self-care. Conclusions:The EBI has high reliability and good validity, and its 4 ADL functional levels correspond well with the FIMs′ 8 ADL function levels. The EBI has good clinical applicability.
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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with the degeneration of the upper motor neuron (UMN) in the motor cortex, the lower motor neuron (LMN) in the brain stem and spinal cord, which leads to progressive muscle weakness and atrophy. Patients eventually die of respiratory failure, and the survival period of most patients is less than 5 years. At present, the diagnosis of ALS is mainly based on the history, clinical manifestations and electrophysiology. The auxiliary examination is only used to exclude other diseases with similar clinical manifestations. The study of genetics and biomarkers provides an objective reference for the early diagnosis, progress and prognosis evaluation of ALS. This paper mainly introduces the latest progress in research on ALS-related markers in biological field. The discovery of special genetic markers can help to diagnose the disease and evaluate the therapeutic effect of individuals; the identification of molecular biology markers has certain value for the diagnosis and differential diagnosis of diseases, while metabolic markers have certain reference value for the progress of diseases. At the same time, this paper summarizes future research on some prospective biomarkers to be further studied and the direction of their clinical application.
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Objective To explore the feasibility and repeatability of deltoid muscle volume measurement using MR volume of interest method, and discuss the clinical significance. Methods Seventy-eight subjects'' MR images were retrospectively reviewed including 33 normal shoulders, 22 rotator cuff tear (7 male, 15 female), 12 cases with labrum lesions (11 male, 1 female), and 2 long head of biceps tendon lesions. Routine axial 2D MR images of deltoid muscle were transported into post-processing work station, the matrix of all images were higher than 275 × 336, and the imaging field included the upper and lower margin of the deltoid muscle, and the three dimension shape of muscle was reconstructed by software based on MR volume of interest, then the muscle volume was calculated automatically. This process was independently performed by 2 operators, and operator 1 repeated this process 1 week later. Intra-class correlation coefficient and 95%confidence interval were used to analyze the reliability and repeatability of the measurement. Deltoid muscle volumes of different ages and different pathological processes were compared using stratified sampling method, one-way analysis of variance (ANOVA), least significant difference (LSD) multiple comparison method, and independent-samples t test. Results Three-dimensional shape of deltoid muscle were well demonstrated and corresponded well to the known anatomy. The measurement showed very good inter-and intra-observer consistency (ICC: 0.983 and 0.995, respectively). There were statistical differences in deltoid muscle volume between group A and C [volume:(382.39 ± 38.87) cm3 and (279.15 ± 63.65) cm3;P=0.000], group B and C [volume:(358.49 ± 44.50) cm3 and (279.15 ± 63.65) cm3; P=0.000]. The normal participants were divided by gender into normal group 1 (9 males and 15 females) and normal group 2 (13 males and 1 female) using stratified random sampling method. The deltoid muscle volume of patients with rotator cuff tear was lower than the normal group 1 [volume:(313.21±63.48) cm3 versus (359.08±57.98) cm3;t=-2.562, P<0.05], and there was no statistical difference in deltoid muscle volume between labrum-ligament complex lesions patients and the normal group 2 [volume: (394.28 ± 33.67) cm3 versus (389.30 ± 22.14) cm3; t=0.385, P=0.704]. Conclusions Volume of interest measurement based on routine MR images could evaluate the deltoid muscle volume conveniently and directly, and which could be used as a preferred choice for muscle volume evaluation.
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Objective:To investigate the role of phosphatase PP2CB in the innate immunity against RNA virus and the underlying mechanism.Methods:PP2CB expression in macrophages was silenced with the specific siRNA.The mRNA and protein expression level of type Ⅰ interferon was detected by Q-PCR and ELISA respectively.The phosphorylation level of TBK1 and IRF3 was analyzed by Western blot.Results:RNA virus VSV infection led to the expression change of PP2CB.Overexpression of PP2CB dose-dependently inhibited the activation of IFN-β reporter gene.PP2CB silencing by PP2CB siRNA significantly promoted the production of type Ⅰ interferon triggered by RNA virus VSV or SeV,and inhibited the replication of VSV in macrophages.Furthermore,PP2CB bound TBK1 upon RNA virus infection.PP2CB silencing up-regulated the phosphorylation level of TBK1 and IRF3.Conclusion:Upon RNA virus VSV or SeV infection,phosphatase PP2CB binds TBK1 and inhibits its phosphorylation to negatively regulate the activation of the antiviral innate immune signal pathway,which consequently suppresses the production of type Ⅰ interferon triggered by RNA virus VSV or SeV.
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Parkinson's disease (PD) is a common age-related neurodegenerative disorder characterized mainly by motor dysfunction resulting in bradykinesia, rigidity, tremor, gait impairment, and postural instability. The classic pathogenic feature of PD is preferential loss of dopaminergic neurons in the substantia nigra. Downregulation of rRNA transcription is one of major mechanisms to maintain cellular homeostasis under stress conditions. Nucleolar stress has emerged as a component of the degenerative process caused by impaired rRNA transcription and altered nucleolar integrity. Recent study has indicated that the response to stress conditions and quality control mechanisms are impaired in PD, and that metabolic stress may be a trigger mechanism for PD. This review aims to present evidence for a role of nucleolar stress in PD and has summarized mechanisms by which nucleolar stress may play a role in the progression of PD.
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Humans , Cell Nucleolus , Physiology , Parkinson Disease , RNA, Ribosomal , Genetics , Signal Transduction , Stress, Physiological , TOR Serine-Threonine Kinases , PhysiologyABSTRACT
BACKGROUND:The study confirmed that adding tricalcium phosphate or pearl powder in polylactic-co-glycolic acid can complement the performance of both, which provides a good environment for cels and makes a faster and better growth of cels. OBJECTIVE:We used polylactic-co-glycolic acid as matrix, composited with pearl powder or tricalcium phosphate to prepare scaffolds by low-temperature deposition manufacturing. METHODS:Low-temperature deposition manufacturing was utilized to prepare composite scaffold of polylactic-co-glycolic acid/pearl powder or polylactic-co-glycolic acid/tricalcium phosphate at the ratio of 10:0, 5:2, 7:3 and 6:4. Microstructure, contact angle and compression modulus of elasticity of scaffolds were detected. MC3T3-E1 cels basicaly fused at 1×104/cm3 were seeded in the pure nonporous polylactic-co-glycolic acid scaffold, pure polylactic-co-glycolic acid scaffold with holes, polylactic-co-glycolic acid/pearl powder at 5:2 and polylactic-co-glycolic acid/tricalcium phosphate at 5:2 separately for 1 and 3 hours. Cel adhesion rate was detected using flow cytometry. After incubation for 1, 4 and 7 days, cel proliferation was measured using Alamar Blue method. RESULTS AND CONCLUSION:Pure polylactic-co-glycolic acid scaffold had cross-linked microporous structure, with pore size of 3-15 μm. Scaffolds ofpolylactic-co-glycolic acid/pearl powder at 5:2 or polylactic-co-glycolic acid/tricalcium phosphate at 5:2 had good continuous porous structure, with pore size of 10-25 μm. With increased content of pearl powder or tricalcium phosphate, the hydrophilicity of the composite scaffold increased. The addition of pearl powder or tricalcium phosphate could elevate compressive mechanical properties of the composite scaffold. With increased content, the mechanical property of the scaffold enhanced and then reduced. The addition of pearl powder or tricalcium phosphate improved the celular affinity of polylactic-co-glycolic acid and the biocompatibility of the scaffold. The biocompatibility of polylactic-co-glycolic acid/pearl powder scaffold at 5:2 was the best.
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Objective To identify the role of microRNA-17(miR-17)in human glioma U87 cells invasion which may regulate expression of matriv metalloproteinase(MMP)-2.Methods U87 cells were cultured in vitro,while changes in cellular morphology were observed by phase contrast microscope.The miR-17 which might regulate the expression of MMP-2 was predicted by bioinformatics and identified using dual luciferase report system.Expressions of miR-17 and MMP-2 were determined using real-time PCR and Western blot after transfection of miR-17 mimics.The invasion of U87 cells was detected in vitro by Transwell chamber.Results Expression of MMP-2 was positive by immunofluorescence cytochemistry. Using dual luciferase reporter system,miR-17 could inhibit the expression of MMP-2 by binding to its mRNA 3′UTR. Results of real-time PCR and Western blot showed that over-expression of miR-17 down-regulated expression of MMP-2. The invasion of U87 cells was suppressed by over-expression of miR-17.Conclusion MiR-17 may negatively regulate expression of MMP-2 in human glioma U87 cells and inhibit cell invasion.
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Objective To evaluate efficacy ,stability and safety after implantation of toric implantable collamer lens (TICL) to correct moderate to high myopic astigmatism .Methods This study evaluated 125 eyes of 71 patients with moderate to high myopic astigmatism who accepted TICL implantation .LogMAR uncorrected(UCVA) and best corrected(BCVA) visual acuity ,intraocular pressure ,cycloplegic refraction and manifest refraction examination were assessed preoperatively on 3 ,6 ,12 months postoperatively . The rotation of TICL axis were measured on 3 ,6 ,12 months postoperatively .Results 12 months postoperatively ,the logarithm of the minimum angle of resolution(LogMAR) UCVA were 0 .064 ± 0 .157 which were remarkably better than preoperative BCVA (P<0 .01) .119 eyes(95 .2% ) had postoperative UCVA better than or equal to preoperative BCVA .The manifest spherical refrac‐tion(absolute value) was (0 .36 ± 0 .41)D .105 (84 .0% ) eyes were within ± 0 .5 D .The mean manifest refractive cylinder was (-0 .63 ± 0 .61)D .109(87 .2% ) eyes had ≤ -1 .00 D .The mean rotation on 12 months postoperatively was (4 .76 ± 6 .14)° .The rotation of 101(80 .8% ) eyes were within 5 degrees .No vision threatening complications occurred during the observation period . Conclusion Implantation of TICL is safe and stable in the treatment of moderate to high myopic astigmatism .TICL is an ideal sur‐gical option to treat moderate to high myopic astigmatism .