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OBJECTIVE@#To analyze the characteristics of genetic variants among children with refractory epilepsy (RE).@*METHODS@#One hundred and seventeen children with RE who had presented at the Affiliated Jinhua Hospital of Zhejiang University School of Medicine from January 1, 2018 to November 21, 2019 were selected as the study subjects. The children were divided into four groups according to their ages of onset: < 1 year old, 1 ~ 3 years old, 3 ~ 12 years old, and >= 12 years old. Clinical data and results of trio-whole exome sequencing were retrospectively analyzed.@*RESULTS@#In total 67 males and 50 females were included. The age of onset had ranged from 4 days to 14 years old. Among the 117 patients, 33 (28.21%) had carried pathogenic or likely pathogenic variants. The detection rates for the < 1 year old, 1 ~ 3 years old and >= 3 years old groups were 53.85% (21/39), 12.00% (3/25) and 16.98% (9/53), respectively, with a significant difference among the groups (χ2 = 19.202, P < 0.001). The detection rates for patients with and without comorbidities were 33.33% (12/36) and 25.93% (21/81), respectively (χ2 = 0.359, P = 0.549). Among the 33 patients carrying genetic variants, 27 were single nucleotide polymorphisms (SNPs) or insertion/deletions (InDels), and 6 were copy number variations (CNVs). The most common mutant genes were PRRT2 (15.15%, 5/33) and SCN1A (12.12%, 4/33). Among children carrying genetic variants, 72.73% (8/11) had attained clinical remission after adjusting the medication according to the references.@*CONCLUSION@#28.21% of RE patients have harbored pathogenic or likely pathogenic variants or CNVs. The detection rate is higher in those with younger age of onset. PRRT2 and SCN1A genes are more commonly involved. Adjusting medication based on the types of affected genes may facilitate improvement of the remission rate.
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Infant , Female , Male , Humans , Child , Infant, Newborn , Child, Preschool , DNA Copy Number Variations , Drug Resistant Epilepsy/genetics , Retrospective Studies , Polymorphism, Single NucleotideABSTRACT
AIM: To investigate the clinical application value of trazodone combined with cognitive behavioral therapy on heroin addicts during the period of community detoxification. METHODS: A total of 140 heroin addictive patients treated by community detoxification management were randomly divided into four groups, 35 patients were given trazodone combined with cognitive behavioral therapy (T+P group), 35 patients were given a single trazodone therapy (T group), 35 patients were given a single cognitive behavioral therapy (P group), and 35 patients were only given community detoxification management (S group), the course of the treatment lasted for 12 weeks. At the time-point of baseline and the weekends 4, 8 and 12 after treatment, four groups were scored by Hamilton anxiety rating scale (HAMA), Hamilton depression rating scale (HAMD), Pittsburgh sleep quality index scale (PSQI), psychological craving rating scale (PCS), Chinese perceived stress scale (CPSS), and urine morphine positive rate. The safety was evaluated with Treatment Emergent Side-effect Scale (TESS) and laboratory test. RESULTS: A total of 125 patients completed the 12 weeks of treatment. HAMA, HAMD and PSQI scores of T+P group and T group on weekends 4, 8 and 12 were significantly reduced when compared with baseline, respectively (P 0.05). CONCLUSION: Trazolone combined with cognitive behavior therapy can significantly improve the negative emotions, sleep quality and other related mental symptom of heroin addiction patients in the community detoxification period, and play a positive role in improving the quality of community detoxification management.
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Objective To explore the influencing factors of the onset of autism spectrum disorder in male children.Methods Totally 151 male children with autism spectrum disorder were selected as case group and 119 healthy male children matched with the age of the case group in the same administrative region were taken as the control group.All children were assessed with the questionnaire for children's autism etiology and risk factors.Results (1) The differences in children having anorexia and partial eclipse (x2 =50.763,P＜0.01),father's age during pregnancy (x2 =11.441,P=0.043),place of pregnancy (x2 =50.763,P＜0.01),hypertension of pregnancy (x2 =5.693,P=0.026),intrauterine hypoxia (x2 =9.332,P=0.002),umbilical cord around the neck(x2 =18.483,P＜0.01),parents smoking and drinking history during pregnancy (x2 =13.660,P=0.008),parental smoking (x2 =12.901,P=0.005) and alcohol consumption (x2 =8.386,P=0.039) during pregnancy,birth height of child (x2 =8.870,P=0.031),amniotic fluid pollution (x2 =4.561,P=0.043),participation time of artificial feeding,major caregivers,delayed development indicators in infants and young children and whether or not the harmonious parent-child relationship were statistically significant(P＜0.05).(2) Children with anorexia and partial diet (OR =12.284,95％ CI =2.768-54.507),living in rural areas during pregnancy (OR =17.251,95％ CI =1.899-1 56.745),parents' history of smoking and drinking (OR =6.191,95％ CI =1.678-22.838),and intrauterine hypoxia during pregnancy (OR=38.859,95％CI=2.944-512.930) may be risk factors for male autism spectrum disorder.Conclusion To correct children's anorexia bias,improve the living environment in pregnancy,reduce pregnancy complications and avoid exposure to tobacco and alcohol pollution during maternal pregnancy can be an effective entry point for the prevention and control of autism spectrum disorders in male children.
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Objective@#To investigate the value of combination of A2DS2 score, procalcitonin (PCT) and C-reactive protein (CRP) predicting stroke-associated pneumonia (SAP) in patients with acute ischemic stroke.@*Methods@#Patients with acute ischemic stroke admitted to the Department of Neurology, Suqian People's Hospital of Nanjing Drum Tower Hospital Group from March 2015 to March 2019 were enrolled retrospectively. Multivariate logistic regression analysis was used to determine the independent correlation of A2DS2 scores as well as PCT and CRP levels with SAP. Receiver operating characteristic (ROC) curves were used to assess the individual and combined predictive values of A2DS2 scores, PCT and CRP levels for SAP.@*Results@#A total of 332 patients with acute ischemic stroke were enrolled, and 58 of them developed SAP (17.5%). After adjusting for age, smoking, and hyperlipidemia, the A2DS2 score (odds ratio [OR] 1.613, 95% confidence interval [CI] 1.092-2.389), PCT (OR 8.047, 95% CI 3.012-16.138) and CRP (OR 1.409, 95% CI 1.064-2.672) were the independent predictors of SAP occurrence. ROC curve analysis showed that the area under the curve of A2DS2 score, PCT and CRP alone, and the combination of the three for predicting SAP were 0.811, 0.825, 0.804 and 0.910, respectively. When the three are jointly used to predict SAP, the area under the curve is significantly higher than the individual prediction (all P<0.001).@*Conclusions@#The combination of A2DS2 score, PCT and CRP can improve the ability to predict SAP.
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Objective To investigate the value of combination of A2DS2 score,procalcitonin(PCT) and C-reactive protein (CRP) predicting stroke-associated pneumonia (SAP) in patients with acute ischemic stroke.Methods Patients with acute ischemic stroke admitted to the Department of Neurology,Suqian People's Hospital of Nanjing Drum Tower Hospital Group from March 2015 to March 2019 were enrolled retrospectively.Multivariate logistic regression analysis was used to determine the independent correlation of A2DS2 scores as well as PCT and CRP levels with SAP.Receiver operating characteristic (ROC) curves were used to assess the individual and combined predictive values of A2DS2 scores,PCT and CRP levels for SAP.Results A total of 332 patients with acute ischemic stroke were enrolled,and 58 of them developed SAP (17.5％).After adjusting for age,smoking,and hyperlipidemia,the A2DS2 score (odds ratio [OR] 1.613,95％ confidence interval [CI] 1.092-2.389),PCT (OR 8.047,95％ CI 3.012-16.138) and CRP (OR 1.409,95％ CI 1.064-2.672) were the independent predictors of SAP occurrence.ROC curve analysis showed that the area under the curve of A2DS2 score,PCT and CRP alone,and the combination of the three for predicting SAP were 0.811,0.825,0.804 and 0.910,respectively.When the three are jointly used to predict SAP,the area under the curve is significantly higher than the individual prediction (all P ＜ 0.001).Conclusions The combination of A2DS2 score,PCT and CRP can improve the ability to predict SAP.