The rich club, as a community of highly interconnected nodes, serves as the topological center of the network. However, the similarities and differences in how the rich club supports functional integration and segregation in the brain across different species remain unknown. In this study, we first detected and validated the rich club in the structural networks of mouse, monkey, and human brains using neuronal tracing or diffusion magnetic resonance imaging data. Further, we assessed the role of rich clubs in functional integration, segregation, and balance using quantitative metrics. Our results indicate that the presence of a rich club facilitates whole-brain functional integration in all three species, with the functional networks of higher species exhibiting greater integration. These findings are expected to help to understand the relationship between brain structure and function from the perspective of brain evolution.
Animals ; Humans ; Brain/diagnostic imaging* ; Mice ; Male ; Nerve Net/diagnostic imaging* ; Macaca ; Female ; Neural Pathways/diagnostic imaging* ; Magnetic Resonance Imaging ; Biological Evolution ; Adult ; Diffusion Magnetic Resonance Imaging ; Brain Mapping ; Species Specificity ; Mice, Inbred C57BL

Objective To analyze the clinical characteristics of patients with coronary heart disease complicated by gastrointestinal hemorrhage and explore the independent prognostic factors.Methods The clinical data of patients with coronary heart disease complicated by gastrointestinal hemorrhage who were treated in the department of emergency of the First Affiliated Hospital of Zhejiang University School of Medicine from January 1,2022 to December 31,2023 were collected,including general information:gender,age,smoking history,drinking history,gastrointestinal hemorrhage-related symptoms(hematemesis,melena,hematochezia,hematemesis combined with melena)or positive fecal occult blood test,past medical history[hypertension,diabetes,atrial fibrillation,liver cirrhosis,malignancy,prior gastrointestinal hemorrhage],coronary heart disease treatment history(history of coronary stent implantation,history of coronary artery bypass grafting),history of antithrombotic drugs,vital signs on admission[body temperature,pulse rate,systolic blood pressure,pulse oxygen saturation(SpO2)],laboratory tests[random blood glucose,white blood cell count(WBC),hemoglobin(Hb),platelet count(PLT),C-reactive protein(CRP),serum creatinine(SCr),blood urea nitrogen(BUN),serum albumin(Alb),alanine aminotransferase(ALT),aspartate aminotransferase(AST),MB isoenzyme of creatine kinase(CK-MB),troponin I(TNI),brain natriuretic peptide(BNP),fibrinogen(Fib),prothrombin time(PT),activated partial thromboplastin time(APTT),D-dimer,ejection fraction(EF)],treatment process[gastrointestinal hemorrhage management(gastrointestinal endoscopy examination or treatment,vascular interventional therapy),blood transfusion volume(red blood cells,plasma),ICU admission rate and admission time,hospital stay],the causes of gastrointestinal hemorrhage comprehensively inferred from imaging and gastrointestinal endoscopy.According to the treatment outcome,the patients were divided into the cured group and the death group,and the differences in clinical data between the two groups were compared.Multivariate Logistic regression analysis was used to identify the independent influencing factors of death outcome.The receiver operating characteristic(ROC)curves were plotted to compare the predictive value of each factor for prognosis.Results A total of 526 patients were enrolled,including 486 in the cured group and 40 in the death group.The causes of death were multiple organ dysfunction syndrome(22 cases),acute myocardial infarction(7 cases),malignant arrhythmia(2 cases),respiratory failure(2 cases),infection(2 cases),hemorrhagic shock(3 cases),acute cerebral infarction(1 case),and cerebral hemorrhage(1 case).No statistically significant differences were found between the two groups in terms of gender,age,smoking history,excessive drinking history,symptoms(hematemesis,hematochezia,positive fecal occult blood test,hematemesis combined with melena),past medical history(hypertension,atrial fibrillation,liver cirrhosis,tumor history,prior gastrointestinal hemorrhage),coronary heart disease treatment history,antithrombotic drug history,body temperature,pulse rate,SpO2,random blood glucose,WBC,Hb,PLT,ALT,AST,CK-MB,TNI,Fib,APTT,EF,gastrointestinal hemorrhage management,causes of gastrointestinal hemorrhage,red blood cell/plasma transfusion volume,and hospital stay(all P>0.05).Compared with the cured group,the death group had a lower rate of melena as the initial symptom,systolic blood pressure,and serum Alb level[melena rate:32.50%(13/40)vs.66.26%(322/486),systolic blood pressure(mmHg,1 mmHg≈0.133 kPa):104.71±8.52 vs.122.52±22.59,Alb(g/L):30.80(27.60,33.70)vs.34.70(32.65,39.05),all P<0.05],and a higher prevalence of diabetes,higher levels of CRP,SCr,BUN,BNP,PT,D-dimer,a higher ICU admission rate,and a longer ICU stay[diabetes prevalence:70.00%(28/40)vs.29.42%(143/486),CRP(mg/L):94.91(30.69,125.56)vs.2.95(1.17,24.31),SCr(μmol/L):200.0(123.0,407.0)vs.82.5(66.8,112.0),BUN(mmol/L):15.81(14.00,22.21)vs.7.61(5.00,14.49),BNP(ng/L):2 970.50(1 504.25,6 193.50)vs.442.00(141.25,1 590.25),PT(s):13.50(12.60,22.50)vs.12.25(11.58,13.30),D-dimer(μg/L):5601(4115,11352)vs.609(267,1350),ICU admission rate:67.50%(27/40)vs.6.99%(34/486),ICU stay(days):3(2,16)vs.0(0,0),all P<0.05].With clinical outcomes(death,cure)as the dependent variable,variables with statistical significance in univariate analysis were included in the multivariate Logistic regression analysis.The results showed that systolic blood pressure and serum Alb were independent protective factors for death outcome[odds ratio(OR)=0.960,0.818;95%confidence interval(95%CI)was 0.933-0.987,0.719-0.932;P=0.004,0.002;respectively],while CRP and SCr were independent risk factors for death outcome[OR=1.013,1.004;95%CI was 1.006-1.020,1.002-1.006,all P<0.001].Taking death outcome as the state variable and serum Alb,systolic blood pressure,SCr,and CRP as the test variables respectively,the ROC curves were plotted.The results indicated that serum Alb,systolic blood pressure,SCr,CRP and their combined detection all had high predictive efficacy for the death outcome[area under the curve(AUC)=0.825,0.775,0.862,0.819,0.928;95%CI was 0.766-0.885,0.729-0.820,0.818-0.905,0.703-0.934,0.891-0.965;sensitivity was 78.6%,92.8%,85.7%,85.7%,92.9%;specificity was 72.7%,72.5%,78.8%,83.8%,77.8%,all P<0.001].The combined detection of the 4 factors had the highest predictive efficacy(all P<0.05).Conclusions Systolic blood pressure,serum Alb,CRP,and SCr were independent influencing factors for the in-hospital death outcome of patients with coronary heart disease complicated by gastrointestinal hemorrhage.The Logistic regression model constructed based on these factors had better predictive efficacy for death outcome than single factor analysis.

A bladder cancer patient underwent intravesical Bacillus Calmette-Guérin (BCG) instillation in Xiamen Branch, Zhongshan Hospital, Fudan University in April 2023. Following 8 instillations the patient presented with fever, cough and dyspnea, and was diagnosed as interstitial pneumonia (IP). Symptoms resolved after anti-tuberculosis and methylprednisolone treatment, with subsequent successful discharge. Using the keywords ′Bacillus Calmette-Guérin, ′ ′intravesical instillation, ′ ′pneumonia, ′ Wanfang Data, China National Knowledge Infrastructure(CNKI), Weipu(VIP), and PubMed databases were searched for relevant literature published between January 2014 and June 2024, and 20 cases of BCG instillation-induced pneumonia were retrieved, including 10 IP cases and 10 miliary pneumonia cases. Among 10 IP cases, 7 received corticosteroids combined with anti-tuberculosis therapy. Two cases unresponsive to combination therapy resulted in mortality, while others showed therapeutic efficacy. Miliary pneumonia demonstrated better prognosis, with 6 cases achieving complete remission through anti-tuberculosis monotherapy. The results indicate that severe BCG-related pneumonia generally necessitates combined anti-tuberculosis and corticosteroid therapy.

Portal hypertensive biliopathy is a secondary condition of intrahepatic and extrahepatic bile duct abnormalities caused by portal hypertension, especially in extrahepatic portal venous obstruction. Most patients may remain asymptomatic for a long time, while a few may present with symptomatic portal hypertensive biliopathy, such as obstructive jaundice, cholelithiasis with or without cholangitis, gastrointestinal bleeding, and others. Such disease is rare in clinical practice and is prone to misdiagnosis and missed diagnosis. Improper treatment can lead to serious adverse consequences. We report a case of unexpected discovery of bile duct dilation due to abdominal pain, which was ultimately diagnosed as portal hypertensive biliopathy based on the medical history, manifestations of portal hypertension, and imaging examinations, especially intraductal ultrasonography.

Objective To analyze the clinical characteristics of patients with coronary heart disease complicated by gastrointestinal hemorrhage and explore the independent prognostic factors.Methods The clinical data of patients with coronary heart disease complicated by gastrointestinal hemorrhage who were treated in the department of emergency of the First Affiliated Hospital of Zhejiang University School of Medicine from January 1,2022 to December 31,2023 were collected,including general information:gender,age,smoking history,drinking history,gastrointestinal hemorrhage-related symptoms(hematemesis,melena,hematochezia,hematemesis combined with melena)or positive fecal occult blood test,past medical history[hypertension,diabetes,atrial fibrillation,liver cirrhosis,malignancy,prior gastrointestinal hemorrhage],coronary heart disease treatment history(history of coronary stent implantation,history of coronary artery bypass grafting),history of antithrombotic drugs,vital signs on admission[body temperature,pulse rate,systolic blood pressure,pulse oxygen saturation(SpO2)],laboratory tests[random blood glucose,white blood cell count(WBC),hemoglobin(Hb),platelet count(PLT),C-reactive protein(CRP),serum creatinine(SCr),blood urea nitrogen(BUN),serum albumin(Alb),alanine aminotransferase(ALT),aspartate aminotransferase(AST),MB isoenzyme of creatine kinase(CK-MB),troponin I(TNI),brain natriuretic peptide(BNP),fibrinogen(Fib),prothrombin time(PT),activated partial thromboplastin time(APTT),D-dimer,ejection fraction(EF)],treatment process[gastrointestinal hemorrhage management(gastrointestinal endoscopy examination or treatment,vascular interventional therapy),blood transfusion volume(red blood cells,plasma),ICU admission rate and admission time,hospital stay],the causes of gastrointestinal hemorrhage comprehensively inferred from imaging and gastrointestinal endoscopy.According to the treatment outcome,the patients were divided into the cured group and the death group,and the differences in clinical data between the two groups were compared.Multivariate Logistic regression analysis was used to identify the independent influencing factors of death outcome.The receiver operating characteristic(ROC)curves were plotted to compare the predictive value of each factor for prognosis.Results A total of 526 patients were enrolled,including 486 in the cured group and 40 in the death group.The causes of death were multiple organ dysfunction syndrome(22 cases),acute myocardial infarction(7 cases),malignant arrhythmia(2 cases),respiratory failure(2 cases),infection(2 cases),hemorrhagic shock(3 cases),acute cerebral infarction(1 case),and cerebral hemorrhage(1 case).No statistically significant differences were found between the two groups in terms of gender,age,smoking history,excessive drinking history,symptoms(hematemesis,hematochezia,positive fecal occult blood test,hematemesis combined with melena),past medical history(hypertension,atrial fibrillation,liver cirrhosis,tumor history,prior gastrointestinal hemorrhage),coronary heart disease treatment history,antithrombotic drug history,body temperature,pulse rate,SpO2,random blood glucose,WBC,Hb,PLT,ALT,AST,CK-MB,TNI,Fib,APTT,EF,gastrointestinal hemorrhage management,causes of gastrointestinal hemorrhage,red blood cell/plasma transfusion volume,and hospital stay(all P>0.05).Compared with the cured group,the death group had a lower rate of melena as the initial symptom,systolic blood pressure,and serum Alb level[melena rate:32.50%(13/40)vs.66.26%(322/486),systolic blood pressure(mmHg,1 mmHg≈0.133 kPa):104.71±8.52 vs.122.52±22.59,Alb(g/L):30.80(27.60,33.70)vs.34.70(32.65,39.05),all P<0.05],and a higher prevalence of diabetes,higher levels of CRP,SCr,BUN,BNP,PT,D-dimer,a higher ICU admission rate,and a longer ICU stay[diabetes prevalence:70.00%(28/40)vs.29.42%(143/486),CRP(mg/L):94.91(30.69,125.56)vs.2.95(1.17,24.31),SCr(μmol/L):200.0(123.0,407.0)vs.82.5(66.8,112.0),BUN(mmol/L):15.81(14.00,22.21)vs.7.61(5.00,14.49),BNP(ng/L):2 970.50(1 504.25,6 193.50)vs.442.00(141.25,1 590.25),PT(s):13.50(12.60,22.50)vs.12.25(11.58,13.30),D-dimer(μg/L):5601(4115,11352)vs.609(267,1350),ICU admission rate:67.50%(27/40)vs.6.99%(34/486),ICU stay(days):3(2,16)vs.0(0,0),all P<0.05].With clinical outcomes(death,cure)as the dependent variable,variables with statistical significance in univariate analysis were included in the multivariate Logistic regression analysis.The results showed that systolic blood pressure and serum Alb were independent protective factors for death outcome[odds ratio(OR)=0.960,0.818;95%confidence interval(95%CI)was 0.933-0.987,0.719-0.932;P=0.004,0.002;respectively],while CRP and SCr were independent risk factors for death outcome[OR=1.013,1.004;95%CI was 1.006-1.020,1.002-1.006,all P<0.001].Taking death outcome as the state variable and serum Alb,systolic blood pressure,SCr,and CRP as the test variables respectively,the ROC curves were plotted.The results indicated that serum Alb,systolic blood pressure,SCr,CRP and their combined detection all had high predictive efficacy for the death outcome[area under the curve(AUC)=0.825,0.775,0.862,0.819,0.928;95%CI was 0.766-0.885,0.729-0.820,0.818-0.905,0.703-0.934,0.891-0.965;sensitivity was 78.6%,92.8%,85.7%,85.7%,92.9%;specificity was 72.7%,72.5%,78.8%,83.8%,77.8%,all P<0.001].The combined detection of the 4 factors had the highest predictive efficacy(all P<0.05).Conclusions Systolic blood pressure,serum Alb,CRP,and SCr were independent influencing factors for the in-hospital death outcome of patients with coronary heart disease complicated by gastrointestinal hemorrhage.The Logistic regression model constructed based on these factors had better predictive efficacy for death outcome than single factor analysis.

A bladder cancer patient underwent intravesical Bacillus Calmette-Guérin (BCG) instillation in Xiamen Branch, Zhongshan Hospital, Fudan University in April 2023. Following 8 instillations the patient presented with fever, cough and dyspnea, and was diagnosed as interstitial pneumonia (IP). Symptoms resolved after anti-tuberculosis and methylprednisolone treatment, with subsequent successful discharge. Using the keywords ′Bacillus Calmette-Guérin, ′ ′intravesical instillation, ′ ′pneumonia, ′ Wanfang Data, China National Knowledge Infrastructure(CNKI), Weipu(VIP), and PubMed databases were searched for relevant literature published between January 2014 and June 2024, and 20 cases of BCG instillation-induced pneumonia were retrieved, including 10 IP cases and 10 miliary pneumonia cases. Among 10 IP cases, 7 received corticosteroids combined with anti-tuberculosis therapy. Two cases unresponsive to combination therapy resulted in mortality, while others showed therapeutic efficacy. Miliary pneumonia demonstrated better prognosis, with 6 cases achieving complete remission through anti-tuberculosis monotherapy. The results indicate that severe BCG-related pneumonia generally necessitates combined anti-tuberculosis and corticosteroid therapy.

Portal hypertensive biliopathy is a secondary condition of intrahepatic and extrahepatic bile duct abnormalities caused by portal hypertension, especially in extrahepatic portal venous obstruction. Most patients may remain asymptomatic for a long time, while a few may present with symptomatic portal hypertensive biliopathy, such as obstructive jaundice, cholelithiasis with or without cholangitis, gastrointestinal bleeding, and others. Such disease is rare in clinical practice and is prone to misdiagnosis and missed diagnosis. Improper treatment can lead to serious adverse consequences. We report a case of unexpected discovery of bile duct dilation due to abdominal pain, which was ultimately diagnosed as portal hypertensive biliopathy based on the medical history, manifestations of portal hypertension, and imaging examinations, especially intraductal ultrasonography.

Objective:To explore the characteristics of renal oxidative stress injuries in rats with high-voltage electric burns and the intervention effects of breviscapine.Methods:This study was an experimental study. One hundred and sixty 8-10-week-old male Sprague Dawley rats were divided into sham injury group, electric burn group, saline group, low breviscapine group, middle breviscapine group, and high breviscapine group, with 60 rats in each of the sham injury group and electric burn group, 10 rats in each of the other 4 groups, respectively. The rats in sham injury group and electric burn group were divided into 10 rats at each time point, including post injury hour (PIH) 0 (immediately), 8, 24, 48, and 72, and post injury week (PIW) 1. The rats in sham injury group were not conducted with electrical current to cause sham injury. The rats in the other 5 groups were caused high-voltage electric burns. The rats in sham injury group and electric burn group were not treated after injury. The rats in saline group, low breviscapine group, middle breviscapine group, and high breviscapine group were intraperitoneally injected with 5 mL/kg normal saline or 0.4, 1.6, and 4.0 g/L breviscapine, repeated every 24 h until PIH 72. After the model was successfully made, 14 rats died, including 1, 2, 2, and 1 rat (s) at PIH 24, 48, and 72 and PIW 1 in electric burn group, 4, 1, 2, and 1 rat (s) at PIH 72 in saline group, low breviscapine group, middle breviscapine group, and high breviscapine group, respectively. The kidney tissue collected from rats in the 6 groups was weighed and the kidney/body weight ratio was calculated. The left upper pole tissue of kidney was collected from each 4 rats in sham injury group, and in electric burn group at PIH 8, 24, 48, and 72 and PIW 1, and in saline group, low breviscapine group, middle breviscapine group, and high breviscapine group at PIH 72. The renal tubular and renal interstitial injury was evaluated by a semi-quantitative histological scoring system after hematoxylin-eosin staining. The inferior vena cava blood samples were collected from rats in the 6 groups to measure the serum creatinine levels via sarcosine oxidase method, and serum urea nitrogen levels via urease method. The right renal cortices were collected from rats in the 6 groups to measure the catalase (CAT) activity in the supernatant of renal tissue via molybdic acid method, and the levels of advanced oxidation protein product (AOPP) and Klotho protein in the supernatant of renal tissue via enzyme-linked immunosorbent assay.Results:At PIH 8, 48, and 72 and PIW 1, the kidney/body weight ratios of rats in electric burn group were significantly higher than those in sham injury group (with t values of -0.52, -3.75, -4.05, and -2.25, respectively, P<0.05). At PIH 72, compared with those in electric burn group, saline group, low breviscapine group, and middle breviscapine group, the kidney/body weight ratio of rats in high breviscapine group was significantly decreased (with P values all <0.05). Compared with those in sham injury group, the renal tubular and renal interstitial injury scores of rats in electric burn group at PIH 48 and 72 and PIW 1 were significantly increased ( P<0.05). Compared with those in electric burn group at PIH 8 and 24, the renal tubular and renal interstitial injury score of rats in electric burn group at PIW 1 was significantly increased (with P values all <0.05). At PIH 72, the renal tubular and renal interstitial injury scores of rats in the 5 groups of rats with electric burns were similar ( P>0.05). At PIH 8, 24, 48, and 72 and PIW 1, the levels of serum creatinine and serum urea nitrogen of rats in electric burn group were significantly higher than those in sham injury group (with Z values of -2.00, -2.37, -2.62, -2.67, -3.67, -2.34, -3.11, -3.43, -3.11, and -3.51, respectively, P<0.05). Compared with that in electric burn group at PIH 0, the levels of serum creatinine of rats in electric burn group at PIH 72 and PIW 1 were significantly increased ( P<0.05). Compared with that in electric burn group at PIH 8, the levels of serum creatinine of rats in electric burn group at PIH 72 and PIW 1 were significantly increased ( P<0.05). Compared with that in electric burn group at PIH 24, the level of serum creatinine of rats in electric burn group at PIW 1 was significantly increased ( P<0.05). At PIH 72, the levels of serum creatinine of rats in the 5 groups of rats with electric burns were similar ( P>0.05). Compared with that in electric burn group, the levels of serum urea nitrogen of rats in low breviscapine group, middle breviscapine group, and high breviscapine group were significantly decreased ( P<0.05). Compared with that in saline group, the levels of serum urea nitrogen in middle breviscapine group and high breviscapine group were significantly decreased ( P<0.05). At PIH 48 and 72 and PIW 1, the CAT activities in the supernatant of renal tissue of rats in electric burn group were significantly lower than those in sham injury group (with Z values of -2.22, -2.13, and -3.51, respectively, P<0.05). At PIH 8, 24, 48, and 72 and PIW 1, the levels of AOPP in the supernatant of renal tissue of rats in electric burn group were significantly higher than those in sham injury group (with Z values of -2.00, -3.15, -2.71, -2.04, and -2.33, respectively, P<0.05). At PIH 0-PIW 1, the levels of Klotho protein in the supernatant of renal tissue of rats in sham injury group and electric burn group were all similar ( P>0.05). Compared with that in electric burn group at PIH 0, the CAT activities in the supernatant of renal tissue of rats in electric burn group at PIH 72 and PIW 1 and the levels of Klotho protein in the supernatant of renal tissue of rats in electric burn group at PIH 48 and 72 and PIW 1 were significantly decreased ( P<0.05). Compared with that in electric burn group at PIH 8, the CAT activities in the supernatant of renal tissue of rats in electric burn group at PIH 72 and PIW 1 and the levels of Klotho protein in the supernatant of renal tissue of rats in electric burn group at PIH 48 and 72 and PIW 1 were significantly decreased ( P<0.05). Compared with that in electric burn group at PIH 24, the CAT activities in the supernatant of renal tissue of rats in electric burn group at PIH 72 and PIW 1 were significantly decreased ( P<0.05). Compared with that in electric burn group at PIH 48, the CAT activity in the supernatant of renal tissue of rats in electric burn group at PIW 1 was significantly decreased ( P<0.05). At PIH 72, the levels of Klotho protein in the supernatant of renal tissue of rats in the 5 groups of rats with electric burns were similar ( P<0.05). Compared with 14.6 (12.6, 23.6) U/mgprot in electric burn group, the CAT activities in the supernatant of renal tissue of rats in low breviscapine group (20.5 (18.0, 39.8) U/mgprot), middle breviscapine group (24.9 (14.7, 28.9) U/mgprot), and high breviscapine group (28.0 (21.9, 39.1) U/mgprot) were significantly increased ( P<0.05). Compared with 15.7 (13.7, 25.6) U/mgprot in saline group, the CAT activities in the supernatant of renal tissue of rats in middle breviscapine group and high breviscapine group were significantly increased ( P<0.05). Compared with that in low breviscapine group, the CAT activity in the supernatant of renal tissue of rats in high breviscapine group was significantly increased ( P<0.05). Compared with those in electric burn group and saline group, the levels of AOPP in the supernatant of renal tissue of rats in middle breviscapine group and high breviscapine group were significantly decreased ( P<0.05). Conclusions:After high-voltage electric burns, oxidative stress injury occur in the kidneys of rats, which is aggravated with time extension. Breviscapine can alleviate oxidative stress injuries in the kidneys of rats with high-voltage electric burns.

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.