1.Efficacy of oral appliance therapy of obstructive sleep apnea and hypopnea syndrome in different periods of treatment
Xu GONG ; Ying ZHAO ; Weiran LI ; Xuemei GAO
Journal of Peking University(Health Sciences) 2017;49(1):115-119
Objective:To investigate the long-term efficacy of oral appliance treating of obstructive sleep apnea and hypopnea syndrome (OSAHS) in different periods of treatment.Methods:A total of 55 patients were included in the study.Patients were all diagnosed with OSAHS by overnight polysomnography and all received oral appliance (OA) as the therapy.The OA positioned the mandible at 60%-70% of the maximal mandible advancement position and created a 4-5 mm incisor separation.The patients were instructed to wear the appliance during sleep,6-8 hours per day,for 5-7 days per week.They were divided into four groups by the period of treatment,including less than 1 year group;1-2 years group;2-6 years group and 6-9 years group.The polysomnographic study was used to investigate the efficacy of the four groups.The outcome measures included the score on the apnea-hypopnea index (AHI),the longest apnea time and the lowest oxygen saturation (LSaO2) levels during an overnight sleep.Results:The AHI decreased significantly in all the four groups.The less than 1 year group decreased from 24.50 (14.65,54.05) to 7.40 (2.12,10.00) events/h (P < 0.001);The 1-2 years group decreased from 19.50 (12.15,39.23) to 1.80 (0.70,6.58) events/h (P =0.001);The 2-6 years group decreased from 25.00 (11.41,42.60) to 4.50 (1.35,7.90) events/h (P =0.001);The 6-9 years group decreased from 26.2 (16.95,47.45) to 4.00 (1.90,26.70) events/h (P =0.043).The longest apnea decreased significantly in less than 1 year group,1-2 years group and 2-6 years group.The longest apnea decreased from 57.00 (37.70,61.50) to 25.00 (15.90,33.50)seconds (P<0.001) in the less than 1 year group,from 41.00 (25.50,62.26) to 13.10 (0.00,22.10) seconds (P =0.001) in the 1-2 year group and from 42.50 (30.35,58.15) to 15.60 (0.00,28.10) seconds (P =0.003) in the 2-6 year group.The LSaO2 levels increased significantly in the less than 1 year group and 2-6 years group.The LSaO2 levels rose significantly in the less than 1 year group,from 74.18% ±7.96% to 84.06% ±7.67% (P =0.001),and in the 2-6 years group,from 76.71% ± 10.98% to 84.06% ±4.64% (P =0.006),The LSaO2 levels did not increase significantly in the 1-2 years and 6-9 years groups.Kruskal-Wallis test showed that there were no statistically significant differences in the AHI,longest apnea time and LSaO2 in 4 the groups.Conclusion:The oral appliance is an effective therapy for patients with OSAHS in the long-term treatment.However,it's recommended to make appointments with patients as a follow-up supervision whether there is any efficacy decrease.And the oral appliance should be replaced if necessary.
2.Effects of sulforaphane on anxiety and fear memory in AD mice and its oxidative stress mechanism
Qichao GAO ; Weiran LI ; Shengxiao ZHANG ; Shifan CHAI ; Xinrui ZHAO ; Zhaojun WANG
Chinese Journal of Behavioral Medicine and Brain Science 2021;30(5):385-390
Objective:To explore the effects of sulforaphane (SFN), an activator of Nrf2, on anxiety and fear memory in Alzheimer's disease(AD) model mice and mechanism.Methods:The AD mice and wild type (WT) mice with the same background were randomly divided into four groups ( n=12 for each group): wild type + normal saline group (WT+ NS), wild type + sulforaphane (WT+ SFN), AD model + normal saline group (AD+ NS) and AD model + sulforaphane group (AD+ SFN). SFN was dissolved in normal saline (0.9% NaCl) and prepared solution with concentration of 1 g/L.According to body weight, mice in WT+ SFN group and AD+ SFN group were intraperitoneally injected with SFN (10 mg/kg), and mice in WT+ NS group and AD+ NS group were intraperitoneally injected with the same volume of normal saline once a day for 30 days.The open field test was used to detect the autonomous exploration ability and anxious behavior of mice.The elevated cross maze was used to detect the anxiety of mice.Conditional fear test was used to test the fear memory behavior of mice.Finally, the expression of superoxide dismutase(SOD) and malondialdehyde(MDA) in the hippocampus and cerebral cortex were detected by ELISA.Two-way ANOVA analysis was performed using GraphPad Prism 8.0.2 software. Results:In the open field test, the percentage of time in central region in AD+ SFN group ((9.99+ 0.37)%) was higher than that of AD+ NS group ((8.47+ 0.42)%) ( q=3.842, P<0.05). In the elevated cross maze, the percentage of time in open arm of AD+ SFN group ((26.2±1.6)%) was higher than that in AD+ NS group ((15.8±1.0)%) ( q=7.452, P<0.01). In the conditional fear test, all the mice of the four groups developed the fear memory, but AD+ SFN group showed higher freezing time ratio ((64.5±3.8)%) than AD+ NS group ((51.0±4.3)%)( q=5.266, P<0.01) in the testing stage.After SFN intervention, the important indicator of oxidative stress, the expression levels of SOD in hippocampus ( q=6.370, P<0.01) and cortex ( q=7.858, P<0.01) of AD mice increased, while the level of MDA in hippocampus ( q=5.146, P<0.05) and cortex ( q=5.833, P<0.01) decreased. Conclusion:SFN may inhibit oxidative stress through Nrf2 pathway, thereby improving anxiety and fear memory in AD mice.
3.The Effect of Melatonin on the Sensitivity of ER~+ Breast Carcinoma Cell Line MCF-7 to Adriamycin and Its Mechanism
Yan ZHANG ; Shuchai ZHO ; Weiran ZHAO ; Yinghui DONG ; Xianbo ZHANG ; Guoyan QI
Chinese Journal of Clinical Oncology 2009;36(21):1243-1247
Objective: To investigate the sensitization of physiological (10~(-9)mol/L) and pharmacological (10~(-5)mol/L) concentrations of melatonin on cell line MCF-7 for adriamycin and its mechanism. Methods: (1) MTT was applied to test the changes in inhibition ratio and IC_(50) of call line MCF-7 for adriamycin before and af-ter incubation with melatonin. (2) Flow cytometry was used to observe the effect of different concentrations of melatonin, adriamycin and melatonin plus adriamycin on cell apoptosis. (3) Western blot was employed to de-termine the expression of p53 and bcl-2 in MCF-7 cells incubated with melatonin, adriamycin and melatonin plus adriamycin. Results: (1) MTT method showed that adriamycin had inhibitive effect on the growth of MCF-7 cells in a dose- and time-dependent manner. The IC_(50) of cell line MCF-7 for adnamycin before treat-ment with melatonin was 0.62±0.07ug/mL (P>0.05). The IC50 of cell line MCF-7 for adriamycin incubated with physiological and pharmacological concentrations of melatonin was 0.59±0.09ug/mL and 0.42±0.02ug/mL, re-spectively, with a significant difference (P<0.01). (2) Flow cytometry method showed that adriamycin could promote apoptosis of MCF-7, and no changes in the apoptosis index were observed as the concentration of melatonin was changed (P>0.05). With the same concentration of adriamycin, the apoptosis index of cells treated with physiological concentration of melatonin plus adriamycin was not changed (P=>0.05), but the apop-tosis index of cells treated with pharmacological concentrations of melatonin plus addamycin was increased significantly. The concentration of adriamycin had no effect on the apoptosis index. (3) Western blot showed that P53 protein was expressed at a lower level and bcl-2 protein was highly expressed. Physiological concen-trations of melatonin increased the expression of p53 and decreased bcl-2 expression in a dose - dependent manner. The concentration of addamycin had no effect on the expression of p53 and bcl-2 proteins. Conclu-sion: (1) Physiological concentrations of melatonin had no effect on the anti-cancer effect of adriamycin. Phar-macological concentrations of melatonin showed sensitization of MCF-7 cells for adriamycin. (2) With a lower concentration of adriamycin, the promotion of apoptosis may be part of the mechanism of sensitization effect of melatonin. With the increase of adriamycin concentration, the cytotoxic mechanism of melotonin became more and more important. (3) Physiological concentration could increase the expression of p53 and decrease bcl-2 expression in ER~+ breast carcinoma cell line MCF-7 in a dose -dependent manner. The apoptosis involv-ing p53 and bcl-2 passway was part of the mechanism of sensitization effect of melatonin for addamycin.
4.Application of continuous monitoring of intracranial pressure and brain oxygen partial pressure in the treatment of patients with severe craniocerebral injury
Zhong WANG ; Ruijian ZHANG ; Zhitong HAN ; Junqing WANG ; Rile WU ; Weiping ZHAO ; Xiaojun ZHANG ; Jingang BAO ; Weiran YANG ; Zhilong ZHANG
Chinese Critical Care Medicine 2021;33(4):449-454
Objective:To investigate the effects of continuous monitoring intracranial pressure (ICP) and brain oxygen partial pressure (PbtO 2) on the prognosis of patients with severe craniocerebral injury. Methods:A prospective randomized controlled trial was conducted. Seventy patients with severe craniocerebral injury with a Glasgow coma score (GCS) 4-8 admitted to the neurosurgical intensive care unit (NICU) of the People's Hospital of Inner Mongolia Autonomous Region from January 2017 to May 2020 were enrolled, and they were divided into ICP monitoring group and ICP+PbtO 2 monitoring group by random number table. Patients in ICP monitoring group received ICP monitoring and were given traditional treatment of controlling ICP and cerebral perfusion pressure (CPP), the therapeutic target was ICP < 20 mmHg (1 mmHg = 0.133 kPa) and CPP > 60 mmHg. Patients in ICP+PbtO 2 monitoring group were given ICP and PbtO 2 monitoring at the same time, and oxygen flow was adjusted on the basis of controlling ICP and CPP to maintain the PbtO 2 > 20 mmHg, and the therapeutic target of ICP and CPP was the same as the ICP monitoring group. ICP and PbtO 2 values were recorded during monitoring in the two groups, the results of CPP, GCS and arterial blood gas analysis were recorded, and the prognosis at 3 months and 6 months after injury was compared by Glasgow outcome scale (GOS) score between the two groups. GOS score > 3 was considered as good prognosis. Kaplan-Meier survival curve was drawn, and the 3-month and 6-month cumulative survival rates of the two groups were analyzed. Linear regression analysis was used to further evaluate the relationship between PbtO 2 and GOS score. Results:Finally, a total of 70 patients with severe craniocerebral injury were enrolled in the analysis, 34 patients received ICP combined with PbtO 2 monitoring and guided therapy, and 36 patients received ICP monitoring alone. The average ICP of ICP+PbtO 2 monitoring group was significantly lower than that of ICP monitoring group (mmHg: 13.4±3.2 vs. 18.2±8.3, P < 0.01). Although the CPP in both groups was great than 60 mmHg, the average CPP of ICP+PbtO 2 monitoring group was significantly higher than that of ICP monitoring group (mmHg: 82.1±10.5 vs. 74.5±11.6, P < 0.01). No significant difference was found in average GCS score or arterial partial pressure of carbon dioxide (PaCO 2) between the ICP+PbtO 2 monitoring group and ICP monitoring group [GCS score: 5.3±2.3 vs. 5.2±2.2, PaCO 2 (mmHg): 33.5±4.8 vs. 32.6±5.2, both P > 0.05]. The average arterial partial pressure of oxygen (PaO 2) of ICP+PbtO 2 monitoring group was obviously higher than that of ICP monitoring group (mmHg: 228.4±93.6 vs. 167.3±81.2, P < 0.01). Compared with the ICP monitoring group, the good outcome rates of 3 months and 6 months after injury in the ICP+PbtO 2 monitoring group were significantly higher (3 months: 67.6% vs. 38.9%, 6 months: 70.6% vs. 41.7%, both P < 0.05). Kaplan-Meier survival curve showed that the 3-month and 6-month cumulative survival rates of ICP+PbtO 2 monitoring group were significantly higher than those of ICP monitoring group (3 months: 85.3% vs. 61.1%, Log-Rank test: χ2 = 5.171, P = 0.023; 6 months: 79.4% vs. 55.6%, Log-Rank test: χ2 = 4.511, P = 0.034). Linear regression analysis showed that PbtO 2 was significantly correlated with GOS score at 3 months and 6 months after injury in patients with severe craniocerebral injury ( r values were 0.951 and 0.933, both P < 0.01). Conclusions:PbtO 2 compared with ICP monitoring guiding therapy is valuable in improving the prognosis of patients with severe craniocerebral injury. It can improve the prognosis at 3-6 months after injury.
5.Thevalueofmonochromaticenergyimagingderivedfrom RevolutionCTindetectingcoronary plaqueswithdifferentconcentrationofcontrastagent:aphantomexperiment
Weiran LI ; Peijie LÜ ; Huiping ZHAO ; Ying LI ; Huixia WANG ; Jianbo GAO
Journal of Practical Radiology 2019;35(4):647-650,654
Objective Toexplorethevalueofmonochromaticenergyimaginggeneratedfrom RevolutionCTindetectingcoronary plaquesindifferentconcentrationsofcontrastagent.Methods Sixtesttubesnumbered3,4,5,6,8and9inthephantom wereselectedand filledupwithdifferentconcentrationsofiodinesolutions(20,10,5,2.5,0,13mgI/mL,respectively),fishbonesimulatingcalcified plaqueandstreakyporksimulatinglipid/fibrousplaque.EachtubeunderwentspectralCTscan(studygroup,70keV monochromatic energyimaging)and120kVpCTscan (controlgroup)respectivelyinRevolutionCT.Theabilityofplaquedetectionwasevaluated subjectively,andfurtheranalysis was madeontheimages withascoregreaterthanorequaltothreepoints.One-way ANOVA and Bonferroni m ethod w ere used to co m pare the C T values and C N R in different tubes in the intra-group co m parison ,w hile paired t test and M ann-W hitney U testwereusedfortheinter-groupcomparison.Results TheoverallimagequalityofNo.4,5and9testtubes inbothgroupsmettheclinicaldiagnosticlevel.Intheintra-groupcomparison,No.5testtubeshowedhigherCNRofcalcifiedplaque andNo.9testtubeshowedhigherCNRoflipidplaqueandfibrousplaquethantheothers(t=4.105-29.214,allP<0.001).Whilein theinter-groupcomparison,thestudygroupshowedsimilarCNRofcalcifiedplaqueinNo.9testtube(t=-1.576,P=0.130)tothecontrol group,andhigherCNRintheothersthanthecontrolgroup(Z=-4.074--3.815,t=-14.782--3.520,allP<0.05).Conclusion Comparedwith120kVpCTimages,monochromaticenergyimagingat70keVfrom RevolutionCTshowedbetteroverallimagequality andcoulddisplaycoronaryplaquesbetterwiththecontrastagent concentrationfrom5mgI/mLto13mgI/mL.
6.Abdominal CT with low radiation dose in obese patients: application of wide-detector helical CT combined with adaptive statistical iterative reconstruction-V (ASIR-V)
Huiping ZHAO ; Peijie LYU ; Ying LI ; Weiran LI ; Huixia WANG ; Jianbo GAO
Chinese Journal of Radiological Medicine and Protection 2018;38(5):379-385
Objective To investigate the value of wide-detector helical CT combined with adaptive statistical iterative reconstruction-V (ASIR-V) in the low radiation dose CT examination of upper abdomen in obese patients.Methods In the first phantom experiment part,the optimal percentage of pre-and post-ASIR-V of abdominal scanning (120 kVp,NI =10 HU) were explored.The second human experiment was performed based on the phantom study,and our institutional review board approved this prospective study,each participant provided written informed consent.87 obese patients (body mass index,BMI ≥30 kg/m2) underwent contrast-enhanced abdominal CT scan were randomly divided into two scan protocols [protocol A:n =43,120 kVp,detector coverage of 80 mm,40% pre-ASIR-V (group A1)and combined with 60% post-ASIR-V (group A2) respectively;protocol B,n =44,120 kVp,detector coverage of 40 mm,40% ASIR (group B)].Quantitative parameters [image noise and contrast-to-noise ratio (CNR)] and qualitative visual parameters (overall image quality as graded on a 5-point scale) were compared.Weighted effective dose (E) were assessed.Results The optimal percentage of pre-and post-ASIR-V of abdominal scanning were 40% and 60%,respectively.The effective radiation dose in protocol A [(4.55 ± 0.95) mSv] was decreased for 53% as compared with protocol B [(9.58 ± 2.04) mSv](t =-14.773,P < 0.001).During the arterial phase and portal venous phase,except for the CNRs of liver,Group A2 showed higher CNRs (q =2.160-3.209,P < 0.05),lower image noise(q =-4.212--3.202,P<0.05),and higher overall image quality scores(Z =-5.155--2.561,P <0.05) as compared with group A1 and group B.Group A1 showed similar CNRs,similar image noise(P > 0.05),and lower overall image quality scores (Z =-3.298--3.030,P < 0.05) than group B.The overall image quality scores in group A were all greater than 3 point and met the clinical diagnostic level.Conclusions Compared with stand-detector helical CT in obese patients,the wide-detector helical CT combined with 40% pre-ASIR-V could reduce the radiation dose by 53%,and improve overall image quality by combining post-ASIR-V technique.
7.Matched comparison of low kVp imaging and CT spectral imaging in image quality and radiation dose at abdominal CT
Peijie LYU ; Jie LIU ; Huiping ZHAO ; Yaru CHAI ; Weiran LI ; Jianbo GAO
Chinese Journal of Radiology 2019;53(1):57-62
Objective To investigate the image quality and radiation dose of spectral CT with automatic spectral imaging mode selection (ASIS) and adaptive statistical iterative reconstruction (ASIR) at abdominal CT as compared with low-kVp CT with ASIR.Methods Two hundred patients underwent the plain and arterial-phase (AP) and portal venous-phase (PVP) contrast-enhanced abdominal CT scan were analyzed prospectively.The patients were randomly assigned to the control group (low-kVp CT scan) and study group (spectral CT scan),if BMI ≤ 23.9 kg/m2,patients were assigned into group A (80 kVp) or group B (spectral CT with ASIS);if 24.0 kg/m2 ≤ BMI<28.9 kg/m2,patients were assigned into group C (100 kVp) or group D (spectral CT with ASIS)(n=50 each).Groups A and B,groups C and D were matched by gender,age,body mass index,cross sectional area and contrast agent dose respectively.Low-kVp images and monochromatic images (40 to 60 keV) were all reconstructed by using ASIR.Radiation dose and quantitative parameters (image noise in HU and contrast-to-noise ratio of the liver,aorta and portal vein) were compared by using t test while overall image quality was assessed by Mann-Whitney U test between the matched groups.Results Radiation dose in the group B was significantly higher than group A (increased by 10%,P<0.05) but there was no significant differences between groups C and D (P>0.05).Compared to the control group,image noises in the study group were higher at 40 keV and 50 keV (P<0.05),but similar at 40 keV (P>0.05).At the energy level of 40 keV,the study group showed higher CNRs,but lower overall image quality scores than the control group except for the similar image quality scores between groups A and B during AP (P<0.05).At the energy level of 50 keV,the CNRs and overall image quality scores in the study group were higher than or similar to the control group.At the energy level of 60 keV,the study group showed lower or similar CNRs,but higher or similar overall image quality scores compared with the control group.Conclusions The radiation dose of spectral CT with ASIS technique was slightly higher than 80 kVp CT but similar to 100 kVp CT.By combining ASIR technique,monochromatic image at 50 keV can maintain or improve CNR and overall image quality as compared with low-kVp images.
8.Accuracy of three-dimensional periodontal ligament models generated using cone-beam computed tomography at different resolutions for the assessment of periodontal bone loss
Hangmiao LYU ; Li XU ; Huimin MA ; Jianxia HOU ; Xiaoxia WANG ; Yong WANG ; Yijiao ZHAO ; Weiran LI ; Xiaotong LI
The Korean Journal of Orthodontics 2023;53(2):77-88
Objective:
To develop a method for generating three-dimensional (3D) digital models of the periodontal ligament (PDL) using 3D cone-beam computed tomography (CBCT) reconstruction and to evaluate the accuracy and agreement of the 3D PDL models in the measurement of periodontal bone loss.
Methods:
CBCT data collected from four patients with skeletal Class III malocclusion prior to periodontal surgery were reconstructed at three voxel sizes (0.2 mm, 0.25 mm, and 0.3 mm), and 3D tooth and alveolar bone models were generated to obtain digital PDL models for the maxillary and mandibular anterior teeth. Linear measurements of the alveolar bone crest obtained during periodontal surgery were compared with the digital measurements for assessment of the accuracy of the digital models. The agreement and reliability of the digital PDL models were analyzed using intra- and interexaminer correlation coefficients and Bland–Altman plots.
Results:
Digital models of the maxillary and mandibular anterior teeth, PDL, and alveolar bone of the four patients were successfully established. Relative to the intraoperative measurements, linear measurements obtained from the 3D digital models were accurate, and there were no significant differences among different voxel sizes at different sites. High diagnostic coincidence rates were found for the maxillary anterior teeth. The digital models showed high intra- and interexaminer agreement.
Conclusions
Digital PDL models generated by 3D CBCT reconstruction can provide accurate and useful information regarding the alveolar crest morphology and facilitate reproducible measurements. This could assist clinicians in the evaluation of periodontal prognosis and establishment of an appropriate orthodontic treatment plan.
9.Continuous monitoring of intracranial pressure and partial oxygen pressure of brain tissue in patients with severe traumatic brain injury after standard decompressive craniectomy and microscopic hematoma removal
Zhong WANG ; Ruijian ZHANG ; Zhitong HAN ; Xiaojun ZHANG ; Jingang BAO ; Yisong ZHANG ; Weiping ZHAO ; Weiran YANG ; Zhilong ZHANG
Clinical Medicine of China 2022;38(1):68-73
Objective:To investigate the effect of continuous intracranial pressure (ICP) and brain oxygen partial pressure (PbtO 2) monitoring and guiding treatment after the application of standard large bone flap decompression and microhematoma removal in patients with severe traumatic brain injury (TBI). Methods:A retrospective analysis was done of 41 patients with TBI in Department of Neurosurgery in the Inner Mongolia People's Hospital from January 2018 to May 2020. Patients with Glasgow coma scale (GCS)<8 points were treatesd with microscopical removal of hematoma and contusion brain tissue and standard large bone flap decompression. Intraoperative intracranial pressure and brain tissue oxygen partial pressure monitoring probes were placed. Postoperatively, continuous intracranial pressure monitoring and partial oxygen pressure monitoring of brain tissue were performed, and target-based treatment under ICP and PbtO 2 monitoring was performed. According to the Glasgow Outcome (GOS) score after six months, patients were divided into a good outcome group (4-5 scores) and a poor outcome group (1-3 scores). There were 26 cases in good prognosis group and 15 cases in poor prognosis group. Linear regression analysis was used to further evaluate the relationship between PbtO 2, ICP and GOS score. The measurement data of normal distribution were compared by independent sample t-test. The counting data were expressed in cases (%), and the comparison between groups was adopted χ 2 inspection. The general linear bivariate Pearson correlation test was used. Results:The mean value of PbtO 2 (17.42±5.34) mmHg in the poor prognosis group was lower than that in the good prognosis group (24.65±5.61) mmHg, with statistical significance ( t=4.04, P<0.001). The mean value of ICP (22.32±3.45) mmHg in the poor prognosis group was higher than that (17.32±3.23) mmHg in the good prognosis group, with statistical significance ( t=4.15, P<0.001). Using PbtO 2 and ICP as independent variables and GOS score after 6 months as dependent variable, a regression equation was established ( Y=4.040 X+7.497; Y=-2.549 X+28.63). The mean value of PbtO 2 was positively correlated with GOS scores after 6 months in patients with severe head injury ( r=0.75, P<0.001). The mean value of ICP was negatively correlated with the prognosis of patients with severe head injury ( r=-0.87, P<0.001). Conclusion:The treatment guided by ICP combined with PbtO 2 monitoring is valuable in improving the prognosis of patients with severe traumatic brain injury after standard decompressive craniectomy, and may improve the prognosis 6 months after the injury.
10.Late-onset isolated sulfite oxidase deficiency: a case report and literature review
Congying ZHAO ; Yi HUA ; Weiran ZHANG ; Liu LIU ; Guoxia SHENG ; Lu XU ; Lihua JIANG ; Shanshan MAO ; Peifang JIANG ; Feng GAO ; Zhefeng YUAN
Chinese Journal of Applied Clinical Pediatrics 2022;37(16):1262-1264
The clinical data of a case with late-onset isolated sulfite oxidase deficiency(ISOD)admitted in the Department of Neurology, Children′s Hospital, Zhejiang University School of Medicine in July 2021 were retrospectively analyzed.Fifteen previously published cases of late-onset ISOD were also reviewed.The patient was a girl, who was hospitalized because of " motor regression with mental retardation for 5 days" at 1 year old.The manifestations of the patient were extrapyramidal symptoms, regression of motor development and seizures.The level of urinary sulfites in the patient was increased.Magnetic resonance imaging (MRI) features were bilateral pallidus and substantia nigra.Gene sequencing suggested a pure missense mutation of the sulfite oxidase( SUOX) gene c. 650(exon5)G>A(p.Arg217Gln). In 16 cases of late-onset ISOD, the median age at onset and diagnosis was 10.5 months and 34.0 months, respectively.The common clinical manifestations were hypotonia (13 cases), seizures (10 cases), movement disorders (9 cases), and ectopia lentis (6 cases). The most common brain MRI feature was pallidus changes (11 cases), followed by lesions of substantia nigra (5 cases), and cerebral atrophy (4 cases). Fourteen cases of late-onset ISOD showed a positive urinary sulfite test.The missense mutation of the SUOX gene was found in 9 cases.It suggested that brain MRI involvement of bilateral pallidus, high excretion of urine sulfites and the missense mutation of the SUOX gene were important diagnostic clues for late-onset ISOD.