Objective:To investigate the predictive value of thrombus enhancement (TE) and thrombus permeability in cardioembolic thrombus with acute middle cerebral artery occlusion based on CT.Methods:The clinical and image data of 93 patients with acute middle cerebral artery occlusion who were admitted to the First Affiliated Hospital of Soochow University within 12 hours after onset from January 2020 to July 2022 were retrospectively analyzed. According to the TOAST criteria, the patients were divided into the cardioembolism (CE) group (43 cases) and the large artery atherosclerosis (LAA) group (50 cases). All patients received noncontrast CT and CT angiography, and then thrombus permeability [thrombus attenuation increase (TAI), void fraction (ε)] and TE were assessed. Independent sample t-test, Mann-Whitney U test and χ2 test were used in univariable analysis between two groups. Multivariable logistic regression analysis was used to explore the independent influencing factors for cardioembolic stroke and establish a logistic model. The receiver operating characteristic (ROC) curve and the area under the curve (AUC) were used to evaluate the predictive value of TAI, ε, TE and the logistic model in cardioembolic thrombus with acute middle cerebral artery occlusion. Results:There were statistically significant differences in sex, atrial fibrillation, hypertension, diabetes mellitus, smoking, baseline National Institutes of health stroke scale (NIHSS), TAI, ε and TE between the CE group and the LAA group ( P<0.05). Binary logistics regression analysis showed that TAI (OR=1.300, 95%CI 1.147-1.473, P<0.001), hypertension (OR=0.116, 95%CI 0.025-0.535, P=0.006) and baseline NIHSS (OR=1.165, 95%CI 1.040-1.304, P=0.008) were independent influencing factors for cardioembolic thrombus. The ROC curve indicated that the logistic model predicted cardioembolic thrombus with the highest AUC of 0.907 (95%CI 0.848-0.966). TE predicted cardioembolic thrombus with the highest sensitivity of 90.7%. Conclusion:TE and thrombus permeability have application value for predicting cardioembolic thrombus with acute middle cerebral artery occlusion based on CT.

Objectives To investigate the effects of low level of ambient NO₂ on the death of cardiovascular and cerebrovascular diseases in Enshi city and to identify sensitive population, so as to provide a scientific basis for formulating health policies. Methods The data of air pollutants, meteorological factors and death of cardiovascular and cerebrovascular diseases in Enshi city from 2015 to 2018 were collected. The generalized additive model based on Poisson distribution was used to analyze the effects of low ambient NO₂ level on the death risk of cardiovascular and cerebrovascular diseases in Enshi city. A subgroup analysis was performed on age, gender, and season. Results The average concentrations of major gaseous air pollutants in Enshi city from 2015 to 2018 were NO₂ (21.40 μg/m³), SO₂ (9.68 μg/m³), CO (0.88 mg/m³), and O₃ (61.21 μg/m³), respectively, all of which did not exceed the national secondary standard. The results of single pollutant model analysis showed that each 1 μg/m3 increase in NO₂ concentration in lag0 day was associated with a 0.33% increase (95% CI: 0.06 - 0.72) (P>0.05) in mortality risk of cardiovascular and cerebrovascular diseases. In the female population, each 1 μg/m3 increase in NO2 concentration in lag01 day was associated with a 0.92% increase (95% CI: 0.26 - 1.56) (P<0.05) in mortality risk of cardiovascular and cerebrovascular diseases. In the cold season, each 1 μg/m3 increase in NO₂ concentration in lag0 day was associated with a 0.62% increase (95% CI: 0.12 - 1.12) (P<0.05) in mortality risk of cardiovascular and cerebrovascular diseases. The results of the two-pollutant model showed that after controlling other gaseous pollutants (SO₂, CO or O₃), the effect of NO₂ on the mortality risk of cardiovascular and cerebrovascular diseases in women and the whole population in cold season still existed. Conclusion The low ambient level of NO₂ in Enshi city was significantly associated with increased mortality risk of cardiovascular and cerebrovascular diseases in female population as well as in cold seasons in the whole population. Attention should be paid to the health protection of special populations in areas with low ambient pollution level of NO₂ in special seasons.

Objective:To develop a radiomics nomogram model based on CT to distinguish arteriovenous malformation(AVM) intracerebral hemorrhage from primary intracerebral hemorrhage.Methods:One hundred and thirty-five patients with cerebral hemorrhage confirmed by operation in the First Affiliated Hospital of Soochow University were analyzed retrospectively, including 52 patients with AVM cerebral hemorrhage and 83 patients with primary cerebral hemorrhage. Radiomics features were extracted from baseline CT, radiomics score (Radscore) was calculated and radiomic labels were constructed. Multiple logistic regression analysis was used for clinical features combined with CT signs to establish a clinical model. And then the nomogram model was generated according to the Radscore and the clinical model. The ROC curve and decision curve analysis (DCA) were used to evaluate the discrimination performance of the model.Results:Six features were selected and used to establish radiomic labels. The clinical model consisted of age (OR: 4.739, 95%CI 1.382-16.250) and hematoma location (OR: 0.111, 95%CI 0.032-0.385), while the nomogram model consisted of age, hematoma location and Radscore. In the training group, there was a significant difference between the nomogram model [area under curve (AUC) 0.912] and the clinical model (AUC 0.816), the radiomics model (AUC 0.857) ( Z=2.776, 2.034, P=0.006, 0.042, respectively); While in the validation group, there was no significant difference between the nomogram model (AUC 0.919) and the clinical model (AUC 0.788), the radiomics model (AUC 0.810) ( Z=1.796, 1.788, P=0.073, 0.074, respectively). DCA analysis showed that the clinical value of the nomogram model was superior to the clinical model and radiomic model. Conclusion:The radiomics nomogram can effectively distinguish AVM-related cerebral hemorrhage from primary cerebral hemorrhage, which is helpful for clinical decision-making.

Objective To analyze the basic characteristics and variation trend of death causes of permanent residents in Enshi City during 2013-2018, to assess the burden of different diseases, and to provide a scientific basis for formulating disease prevention and control strategies. Methods The death monitoring data of permanent residents in Enshi City, Hubei Province from 2013 to 2018 was collected. The crude mortality, standardized mortality, life expectancy, potential years of life loss (PYLL), standard potential years of life loss (SPYLL), average years of life lost (AYLL), and annual percentage change (APC) were calculated to describe the distribution and trend of death causes. Results The average annual crude death rate and standardized death rate of residents in Enshi City from 2013 to 2018 were 679.43 per 100 000 and 615.02 per 100 000, respectively. The top 5 causes of death were circulatory system diseases, respiratory system diseases, malignant tumors, injuries, and digestive system diseases, accounting for 91.2% of the total deaths. Analysis of life expectancy found that the average life expectancy of local residents from 2013 to 2018 was 78.02 years, and the value in the male group (75.57 years) was lower than that in the female group (80.78 years). Life loss analysis revealed that PYLL caused by various diseases was 171 620 person-years, SPYLL was 171 284.62 person-years, and AYLL was 15.03 years/person in Enshi City from 2013 to 2018. Among all the death causes, the top five in terms of life loss were injuries, malignant tumors, circulatory diseases, respiratory diseases and digestive diseases. Conclusion From 2013 to 2018, the death rate of residents in Enshi City was relatively higher compared with those in other cities in China, the average annual crude death rate was on the rise, and the average annual standardized death rate was on the decline, indicating a highly ageing region. Chronic diseases such as circulatory system diseases, malignant tumors, and respiratory diseases, as well as injuries were the main death causes and caused a heavy burden of diseases, which should be the focus of future prevention and control work. Considering the higher levels of death and life loss indicators of male residents than those of women, targeted prevention and control measures should be taken to narrow the gap between men and women and improve the overall life quality of the whole population.

Objective:To investigate the clinical features and prognosis of pediatric autoimmune encephalitis associated with anti-glutamic acid decarboxylase 65 (GAD65) antibody.Methods:Clinical data of 2 patients diagnosed as autoimmune encephalitis associated with anti-GAD65 antibody at Department of Neurology, Beijing Children′s Hospital in 2019 were analyzed retrospectively. A literature search with “anti-GAD65 antibody”“encephalitis”“epilepsy” or “cerebellar ataxia” as key words was conducted at China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform and PubMed (up to January 2020). The clinical features and prognosis of pediatric cases with complete clinical data were retrieved and summarized.Results:Two patients with positive anti-GAD65 antibody of serum and cerebrospinal fluid were both females. The onset age of case 1 was 57 months and her main clinical manifestations were fever and unconsciousness. The cranial magnetic resonance imaging (MRI) showed diffuse T2 weighted imaging (T2WI) abnormal signals, and the electroencephalogram (EEG) showed slow waves. The onset age of case 2 was 80 months and her main clinical manifestations of were recurrent focal seizures, memory loss, and headache. The MRI showed high T2WI signal in bilateral hippocampus, and the EEG showed abnormal discharge involving the temporal area. Both cases were treated with methylprednisolone and intravenous immunoglobulin, the short-term symptoms of them were both improved. They were followed up for 6 months and 1 year respectively, the case 1 recovered completely, and the case 2 still had focal seizures. Six English reports which included 6 cases were retrieved. Together with these 2 cases, a total of 8 cases were analyzed. The clinical symptoms included seizures (6 cases), memory loss (4 cases), loss of consciousness (3 cases), behavioral abnormalities (3 cases), cognitive impairment (2 cases), headache (2 cases), autonomic symptoms (1 case), ataxia (1 case), dysphagia (1 case), and aphasia (1 case). There were 5 cases with cranial MRI abnormalities in the acute phase or sub-acute phase, of whom 3 cases had the limbic system involvement, and 2 cases were mainly had extra limbic area involvement. Three cases had hippocampal atrophy or sclerosis during follow-up. All 8 patients were treated with immunotherapy. After immunotherapy, all patients had short-term improvement. Follow-up for 6 months to 6 years showed that 3 cases with extra limbic encephalitis improved to baseline levels, and 5 limbic encephalitis cases had poor outcomes, including 1 death and 4 cases still had focal epilepsy.Conclusions:Pediatric anti-GAD65 antibody associated autoimmune encephalitis is a rare but treatable disease, including limbic encephalitis and extra limbic encephalitis. The most common clinical manifestations are seizures and memory impairment. Early diagnosis and immunotherapy can improve the symptoms in a short time. But patients with limbic encephalitis often had refractory epilepsy in the chronic phase, and have a poor long-term outcome.

Objective:To investigate the etiology of epilepsy onset before 6 months old and improve clinical understanding.Methods:The medical history, electroencephalogram, brain imaging, genetic examination and other clinical data of 340 patients who were diagnosed with epilepsy with onset under 6 months of age and were hospitalized in the Department of Neurology, Beijing Children′s Hospital, Capital Medical University between January 2017 and December 2018 were retrospectively analyzed. Rank sum test was used to compare the ages of onset of different etiologic groups.Results:Of the 340 patients, 196 were males and 144 were females. The age of onset was 90.5 (48.0, 135.5) days. In the 250 (73.5%) underwent genetic test, 103 (41.2%) had pathogenic or likely pathogenic variants, involving 43 single gene variants and 2 chromosomal abnormalities. Seventy-nine patients (23.2%) had genetic etiology, 66 (19.4%) had structural etiology, 19 (5.6%) had metabolic etiology, 13 (3.8%) had multiple etiologies, and 163 (47.9%) had unknown etiology. In the 79 cases with genetic etiology, 30 single gene variants were detected, including 19 cases of PRRT2, 10 cases of KCNQ2, 7 cases of SCN1A, 6 cases of SCN2A, 6 cases of STXBP1, 5 cases of CDKL5, 2 cases of ARX, and 1 case of each of 23 gene variants. Two cases had chromosomal abnormalities which were 21-trisomy and 16p11.2 microdeletion syndrome respectively. Among the 66 cases with structural etiologies, 37 cases had acquired factors such as perinatal brain injury, 28 cases had congenital factors such as cortical malformation and 1 case was perinatal brain injury combined megalencephaly. The onset age of genetic etiology was 95 (26, 128) days, that of structural etiology was 90 (58, 30) days, and that of metabolic etiology was 57 (30, 90) days. The onset age of metabolic etiology was earlier than that of structural etiology ( U=436.500, P=0.044). Conclusions:Genetic etiology is the most common defined etiology of infants with early-onset epilepsy aged 0-6 months, and there are certain differences in the age of onset between different etiologies. Proper application of genetic test is helpful to identify the etiology and guide treatment.

Objective: To explore the clinical characteristics and genotyping results of childhood-onset myoclonus dystonia syndrome caused by SGCE variants. Methods: The clinical data of 9 children with SGCE-related myoclonus dystonia syndrome admitted at either the Department of Neurology, Beijing Children′s Hospital, Capital Medical University or the Department of Pediatrics, Peking University First Hospital from May 2018 to October 2019 were collected and the patients were followed up. The definite diagnosis was made on the basis of whole exome sequencing and multiple ligation-dependent probe amplification. The clinical features and gene test results were analyzed retrospectively. Results: Data of 9 patients (4 boys and 5 girls) diagnosed as myoclonus dystonia syndrome caused by SGCE variants were collected. The onset age ranged from 1 year to 3 years and 2 months. The first symptom was myoclonus in 4 cases, while dystonia in the remaining 5 cases. In the course of the disease, 9 cases had myoclonus and 8 had dystonia. Myoclonic jerks were characterized by involuntary jerks in both upper limbs in 8 patients. Six patients had involuntary jerks of lower limbs, resulting in gait instability or even falling. The myoclonus was exacerbated during the fine motor activities, emotional stress or fatigue. Dystonia was characterized by abnormal gait, including 5 cases with right leg dystonia, and 3 cases with the left leg dystonia. Three probands had a positive family history. Intellectual development was normal in all cases. There was no obvious abnormality in video-electroencephalogram (EEG) during both ictal and interictal periods. Electromyography (EMG) and brain magnetic resonance imaging (MRI) of 9 patients were normal. Nine patients carried SGCE gene variants, including 3 frame shift variants, 2 nonsense variants, 2 missense variants, 1 fragment deletion variant and 1 splice site variant. Seven variants were inherited paternally, and 2 variants were de novo. Madopar was used in 8 patients, and nitrazepam in 4 patients, leading to the decrease in the myoclonus jerks and improvement of gait in 6 and 2 patients, respectively. Conclusions SGCE gene variants can cause myoclonus dystonia syndrome. The onset of the disease may occur at infancy or preschool age, with either myoclonic jerks or dystonia as the initial symptom. Non-epileptic myoclonus is the prominent symptom, with upper limb mainly involved. Most of the patients have the accompanying symptoms of dystonia, and some of them may have spontaneous symptom relief. SGCE gene is imprinted maternally, and the inherited variants of SGCE are paternal in origin.

Objective: To summarize the clinical and genetic characteristics of focal epilepsy in children caused by GATOR1 complex gene variation. Methods: The clinical data, gene variation and treatment outcome of 12 children with focal epilepsy caused by GATOR1 complex gene variation admitted to Beijing Children′s Hospital Affiliated to Capital Medical University from June 2016 to October 2018 were retrospectively analyzed. Results: There were 7 males and 5 females in 12 cases. The epilepsy onset age was 5.5 (3.0, 12.0) months, and from 11 days to 16 months of age. The epileptic seizure types were all focal motor seizures, and one case combined with epileptic spasms. The frequency of seizures in all patients was more than one time per day. Seven cases had frontal lobe epilepsy and two cases had lateral temporal lobe epilepsy. One case had a family history of febrile seizures and two had a family history of suspicious epilepsy. Epileptic form discharges were observed in 9 patients during the interictal phase by electroencephalograms (EEG), and all of them were focal discharges. Eight cases had clinical seizures detected by EEG, in 4 of whom the seizures were originated in frontal region. There were no abnormalities in brain magnetic resonance imaging in 11 cases whereas 1 case had malformation of cortical development of left frontal lobe. Eight patients had DEPDC5 gene variation, one had NPRL2 gene variation, three had NPRL3 gene variation. One case had de novo variation and the other 11 had hereditary variation. There were 11 types of gene variation, including 5 nonsense variations, 3 missense variations, 2 frame shift variations and 1 in frame deletion variation. There was no clear relationship between the clinical phenotype and the genotype. During the follow-up period from 6 months to 2 years and 6 months, 6 cases had seizure control, 3 of them were controlled by oxcarbazepine. The other 6 cases had drug-refractory epilepsy, 2 of them failed with vagus nerve stimulation and ketogenic dietary therapy as well, meanwhile combined with mental retardation. Conclusions GATOR1 complex gene variation can lead to genetic focal epilepsy, which usually has early onset with frequent seizures. Most of the patients have focal epileptic form discharges on EEG, and there is usually no structural lesion in brain imaging. Most of the patients have hereditary loss-of-function variations. Approximately half of cases are drug-resistant epilepsy.

Objective To assess the image quality of coronary CT angiography(CCTA) by using high-pitch spiral CT under 80 kV in patients with a normal body mass index(BMI), and to investigate the feasibility of low radiation dose.Methods 60 patients,who suspicious coronary artery diseases and BMI between 18.6-25.0 kg/m2 underwent CCTA in our hospital.All patients were randomly divided into group A and group B(each with 30).Patients in group A were given 100 kV CCTA and filter back-projection algorithm (FBP), and patients in group B were given 80 kV CCTA and iterative reconstruction(IR).CT values of aortic root, right coronary artery (RCA), left anterior descending artery (LAD), left circumflex (LCX) and standard deviation (SD) were measured.Then signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) were calculated.All images were given quality subjective scoring by using 3-score method.The CT dose index was recorded and effective radiation dose (ED) was calculated.Results ED of group A and group B was 0.8 mSv and 0.41 mSv, respectively.Statistically significant difference was found between these two groups.In the study, SD was (28±6) HU in group A and (46±9) HU in group B, and the difference was statistically significant between the two groups.The CT values of aortic root, RCA, LAD and LCX under 80 kV were significantly increased, and the difference was statistically significant between the two groups.There was no statistically significant difference between two groups in RCA-SNR, LAD-SNR and RCA-CNR.But in LCX-SNR, LAD-CNR, LCX-CNR, there was statistically significant difference between two groups.There was no significant difference between the two groups in coronary artery segments which could be used for diagnosis.Conclusion For patients with a normal BMI, CCTA using Flash spiral CT under 80 kV could diagnose coronary artery disease and significantly reduce the radiation dose.

Objective To evaluate the feasibility of high-pitch spiral coronary CT angiography (CCTA) under low tube voltage and low contrast agent concentration for the patients with normal body mass index (BMI).Methods Ninety patients suspected with coronary artery diseases and with BMI of 18.6-25 kg/m2 underwent high-pitch CCTA and were randomly divided into three groups (each=30).Group A used iohexol (350 mg I/mL) 60 mL;Group B used iopromide (300 mg I/mL) 60 mL;Group C used iopromide (300 mg I/mL) 45 mL.All of them were scanned under Flash spiral pattern with 80 kV tube voltage,and the original data was calculated with sinogram affirmed iterative reconstruction algorithm(SAFIR).CT values and noises of the aorta root,right coronary artery (RCA),left anterior descending artery (LAD),and left circumflex (LCX) were measured,then signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) were calculated.All of images were subjectively assessed by using 3-score method.The effective radiation dose (ED) and total iodine were recorded.Results ED of the three groups were all about 0.4 mSv,and there was no statistically significant.Compared with group A,the total iodine in group C decreased by 35.6 ％ and there was significant difference.There were no significant differences in image noise,SNR and CNR between group A and group B.Between group B and group C,there were significant differences in CT values of coronary,LCX-SNR and LCX-CNR,but there were no significant differences in image noise,SNR and CNR of RCA and LAD.There was no significant difference in the number of coronary artery segments for diagnosis among the three groups.Conclusion For the patients with normal BMI,application of high-pitch spiral CCTA with iopromide (300 mg I/mL)45 mL under 80 kV tube voltage could meet the requirement for clinical diagnosis,and the radiation dose and total iodine were significantly decreased.