1.Event-related potential P300 in children with attention deficit hyperactivity disorder and Tourette syn-drome
International Journal of Pediatrics 2016;43(12):953-955,959
Attention deficit hyperactivity disorder( ADHD) and Tourette syndrome( TS) are common psychoneurological disorders both in childhood and puberty pubertas which have an effect on the development of psychological and behavior,result in study and adaptive capacity decline,cognize damage. In recent years,many researches shows event-related potential P300 has significance for evaluating of cognize in children. This paper summarizes the research of event-related potential P300 in the children with ADHD and TS to compare the differences and discuss the possible mechanism.
2.Clinical characterization and genotype analysis of idiopathic mental retardation in male patients with epilepsy
Zhijie GAO ; Qian JIANG ; Qian CHEN ; Keming XU ; Erzhen LI
Chinese Journal of Applied Clinical Pediatrics 2015;30(1):50-54
Objective To detect genetic causes of idiopathic mental retardation/developmental delay in 20 male patients with epilepsy and to analyze their clinical characteristics of positive mutation carriers.Methods The families,consisted of the patient and his parents were recruited.Genomic DNA was extracted from peripheral blood,and candidate gene mutation screening was carried out by next-generation sequencing technology.Mutations in positive gene were verified by polymerase chain reaction(PCR) and direct sequencing.Results Three missense mutations were identified among 3 patients out of 20 cases,with a detection rate of 15%.They were:OPHN1 gene c.1996 C > G,RAB39B gene c.542 C > T and AFF2 gene c.427 A > T,none of which had been reported before.All of these mutations were likely to be pathogenic based on gene function,evolutionary conservation,variant frequency in normal population (NHLBI Exome Sequencing Project and 1 000 Genomes),bioinformatics prediction and inheritance patterns.In addition,all 3 genes disrupted were residing on the X chromosome previously demonstrated to be associated with X-linked mental retardation(XLMR),indicating that they were probably pathogenic or might serve as one of the risk factors.Conclusions Abnormal function of genes on the X chromosomal is one of the most impotent causes of XLMR.X chromosomal gene mutation screening would be recommended for male children suffering from idiopathic mental retardation with epilepsy.
3.Clinical features of obese children with narcolepsy
Xiaoyin PENG ; Erzhen LI ; Liwen WANG ; Xiaoyu LIU ; Ye ZHANG
Chinese Journal of Applied Clinical Pediatrics 2015;(20):1573-1576
Objective To analyze the clinical characteristics of narcolepsy in children with obesity,and to e-valuate the impact of obesity on narcoleptic children clinically. Methods Forty cases first diagnosed as narcolepsy were recruited in the study who to see doctors at the Department of Neurology,Children's Hospital of Capital Institute of Pediatrics,from July 2012 to January 2015. According to diagnostic criteria for obesity by the body mass index(BMI) growth curve for the Chinese children and adolescents,they were divided into the obese group and the nonobese group. The general clinical data of 2 groups were analyzed,and the related metabolic indexes and the whole night polysomnog-raphy(PSG)of 2 groups were studied. Results In this group,male versus female 3: 1,obesity was found in 21 cases (52. 5% )and nonobesity was found in 19 cases(47. 5% )from the samples. The mean BMI of all patients was (21. 55 ± 3. 11)kg/ m2 . The average BMI of the obese group was(23. 09 ± 2. 46)kg/ m2 ,and BMI of the non - obese group was(19. 85 ± 2. 89)kg/ m2 . Obese children were younger at the onset of disease and by the time of diagnosis age [(7. 94 ± 2. 22)years old,(8. 76 ± 2. 36)years old]than nonobese children[(10. 75 ± 3. 10)years old,(12. 51 ± 2. 88)years old]. The fasting blood glucose and blood lipid in all patients were normal,and there was no significant difference between 2 groups. The total sleep time,sleep efficiency and the ratio of rapid eye movement(REM)phase of the obese group[(397. 45 ± 53. 76)min,(68. 70 ± 8. 90)% ,(18. 37 ± 4. 39)% ]were significantly lower than those of the non - obese group[(449. 95 ± 86. 49)min,(76. 58 ± 13. 60)% ,(22. 19 ± 6. 34)% ]. According to the sleep structure,the percentage of stageⅠnon rapid eye movement(NREM)sleep in the obese group[(20. 90 ± 6. 38)% ] was more than that in non - obese group[(16. 26 ± 4. 22)% ]. There was no difference between the percentage of stageⅡNREM sleep in the obese group[(42. 59 ± 5. 52)% ]and the non - obese group[(38. 54 ± 8. 74)% ]. Stage Ⅲ + Ⅳ(slow wave sleep)NREM sleep ratio in the obese group[(18. 14 ± 6. 97)% ]was significantly lower than that in the non - obese group[(22. 60 ± 5. 69)% ]. Conclusions Obesity is one of the most common comorbids in narcolepsy, which affects more than 50% of narcoleptic children,mostly younger at disease onset. The narcolepsy children with obe-sity has total sleep time decreased,sleep efficiency reduced and sleep structure disorder is more obvious. To improve the realization of obesity in narcolepsy children and early treatment is the key to the success of the therapy.
4.Clinical application of the integrated visual and auditory continuous performance test on Tourette syndrome children with attention deficit hyperactivity disorder
Lihong REN ; Xiuxian YAN ; Lijuan LI ; Xiaoyu LIU ; Erzhen LI ; Ping ZHENG
Chinese Journal of Applied Clinical Pediatrics 2016;31(9):706-709
Objective To explore the value of the integrated visual and audio continuous performance test (IVA-CPT) in the diagnosis of Tourette syndrome(TS) patients who have comorbid attention deficit hyperactivity disorder(ADHD).Methods IVA-CPT was performed in 519 TS patients with comorbid ADHD (observation group)and 857 patients with pure ADHD (control group).The gold standard for the diagnosis of ADHD was based on the Diagnostic and Statistical Manual of Mental Disorders (4th version,USA) (DSM-Ⅳ).Results (1) When DSM-Ⅳ was used as the gold standard,the sensitivity,specificity and coincidence rate of IVA-CPT were 62.4%,81.9% and 75.7%,respectively.(2) IVA-CPT misdiagnosed 62 cases in TS + ADHD group,including 30.3% (10/33 cases) inattentive subtype (ADHD-I),51.4% (37/72 cases) hyperactive subtype (ADHD-H) and 25.0% (15/60 cases) combined subtype (ADHD-C).Significant difference in misdiagnosis rate was found among ADHD-H and ADHD-I and ADHD-C (x2=10.646,P<0.05).(3) There were 449 cases in which 2 diagnostic methods were both positive in both observation group and control group,including 103 cases in observation group and 346 cases in control group.The full scale response control quotient,visual reaction control,auditory reaction control in observation group and control group were 89.0±19.5/77.4±18.2,92.4±19.0/84.3±18.9,89.6±16.8/77.4±19.7,and there were significant differences between 2 groups (t=-5.024,-3.533,-5.255,all P<0.05).The full scale response control quotient,visual response control quotient,full scale attention quotient and visual attention quotient between the 2 groups were statistically significant (t=2.510,-2.836,-1.402,-2.501,all P<0.05).Conclusions (1) IVA-CPT can be used as an effective and objective tool for the diagnosis of TS children with comorbid ADHD.(2)Comparcd with TS childrcn with comorbid ADHD,pure ADHD children have a higher attention and control impairment.
5.Application of gene capture technology combined with next generation sequencing technology on methylmalonic acidemia
Jun WANG ; Erzhen LI ; Liwen WANG ; Shenghai YANG ; Tao HU ; Zhilong WANG ; Qiao ZHOU
Chinese Journal of Applied Clinical Pediatrics 2014;29(20):1548-1551
Objective To assess the efficiency and reliability of clinical genetic diagnosis of methylmalonic acidemia(MMA) using new generation sequencing platform (HiSeq2000).Methods 1.Nine patients diagnosed with clinical signs of MMA were recruited.DNA library from the patients were mixed with designed gene capture probe.The whole exons region of 48 genes related to organic acid metabolism were screened using the gene capture combined with high-throughput sequencing.2.The joints were removed and the low quality data were filtered,the data were analyzed by means of SNP and InDel.To avoid the false positive,the abnormal sites were verified using the Sanger sequencing method.3.The detection of the organic acid in the urine was performed through gas chromatography-mass spectrometry and other auxiliary examinations.Results 1.Gene mutation:7 gene mutations of MMACHC were identified in 7 patients.Seven mutations:c.482G > A,c.567_568insT,c.609G > A,c.440_441del,c.80A > G,c.315C > G,c.90G > Awere screened.The mutation c.440_441del had not been reported before,and others were all related to the disease.Two gene mutations of mutase apoenzyme(MUT) were identified in 1 case,all of which were introns:.c.754-1G > C,c.1677-1G > A.The novel mutation was c.754-1G > C.No gene mutation was identified in 1 patient.2.Clinical manifestation:all of the patients were development delay,but the degrees were different;3 patients with convulsion; 1 patient with headache and central facial paralysis;1 patient with repeated intractable metabolic acidosis;1 patient with repeated hemolysis.Electroencephalogram of the all patients were abnormal;the result of cranial MRI of the 8 patients were abnormal;In all patients,urine level of methylmalonic acid significantly increased (273.4-146 022.8 times).Blood homo cysteine of 8 patients were significantly increased(27.13-396.84 μmol/L,normal < 20 μmol/L).3.Sanger sequencing:there were no false positive exists.Conclusions 1.There were not a correlation between the clinical manifestation and gene mutation of the patients with MMA.The c.609G > A was the hotspot mutation of MMACHC gene in Chinese patients with MMA and homocysteinemia.2.The mutations c.440_441del and c.754-1G > C were presumed to be novel mutations.3.Gene capture technology combined with next-generation sequencing technology could be used to interrogate the wealth of data available in the human genome and lay the foundations for counseling of gene.This platform can be readily and timely adopted by clinical molecular diagnosis of MMA and represents a high throughput,high sensitivity,high efficiency and other characteristics approach for screening common genetic diseases.
6.Urotensin Ⅱ aggravated ?-glycerophosphate-stimulated calcification in cultured rat vascular smooth muscle cells
Baohong ZHANG ; Xiaobo CHEN ; Erzhen LI ; Tianyou WANG ; Chaoshu TANG ; Junbao DU
Chinese Pharmacological Bulletin 2003;0(12):-
Aim To investigate the effect of urotensin Ⅱ on vascular calcification.Methods Calcified VSMCs of rat in vitro were induced by ?-glycerophosphate.Cellular calcium content,ALP activities,45Ca accumulation and osteocalcin content were measured.Results Compared with those of control group,calcium content,ALP activities,45Ca uptake and osteocalcin in calcified VSMCs increased greatly(P
7.Identification of two survival motor neuron gene 1 gene mutations and evaluation of their effects on full-length survival motor neuron gene 1 transcripts
Jinli BAI ; Yujin QU ; Erzhen LI ; Yuwei JIN ; Yanyan CAO ; Hong WANG ; Fang SONG
Chinese Journal of Neurology 2013;(2):100-106
Objective To perform mutation analysis of survival motor neuron gene 1 (SMN1 in two spinal muscular atrophy (SMA) patients and their parents to evaluate the effects of the two SMN1 gene mutations on the transcript levels of the gene and preliminarily predict their effects on the structure and function of SMN protein.Methods Mutation analysis of SMN1 gene was carried out by multiplex ligationdependent probe amplification,reverse transcript-polymerase chain reaction (RT-PCR) and cloning sequencing.Transmission of the mutations was confirmed by the mutation analysis in patients' parents.The full-length SMN1 (SMN1-fl) transcript levels of the patients carrying these subtle mutations were detected using quantitative RT-PCR.Results The two patients were diagnosed as SMA Ⅱ and SMA Ⅲ.They carried p.Val19GlyfsX21 and p.Ala2Gly SMN1 mutations in SMN1 gene,respectively.Both of the two mutations were originated from their fathers.Compared with the healthy individuals (23.5 ± 4.9),the two patients had a significant reduction in the level of SMN1-fl transcripts (t =3.322,P =0.011 (p.Ala2Gly) ;t =6.964,P =0.000 (p.Val19GlyfsX21)).However,compared with the healthy carriers (14.1 ±4.5),the patient with p.Ala2Gly mutation had no significant reduction in the level of SMN1-fl transcripts (13.9 ±3.6,t =0.058,P =0.955) ; however,the patient with p.Val19GlyfsX21 mutation had a significant reduction (4.9± 2.4,t =3.725,P =0.004).Conclusions Two SMN1 gene mutations are identified in our study.The mutation p.Val19GlyfsX21 is a novel mutation and p.Ala2Gly is firstly reported in Chinese SMA patients.p.Val19GlyfsX21 may possibly lead to decreased SMN1-fl mRNA by nonsense-mediated messenger RNA decay,however,p.Ala2Gly has no obvious effects on the amount of the SMN1-fl transcripts,indicating that its deleterious effect may be occurring at SMN protein level or the function of SMN protein.
8.Urotensin Ⅱ aggravated β-glycerophosphate-stimulated calcification in cultured rat vascular smooth muscle cells
Baohong ZHANG ; Xiaobo CHEN ; Erzhen LI ; Tianyou WANG ; Chaoshu TANG ; Junbao DU
Chinese Pharmacological Bulletin 2009;25(12):1567-1570
Aim To investigate the effect of urotensin Ⅱ on vascular calcification.Methods Calcified VSMCs of rat in vitro were induced by β-glycerophosphate.Cellular calcium content,ALP activities,~(45)Ca accumulation and osteocalcin content were measured.Results Compared with those of control group,calcium content,ALP activities,~(45)Ca uptake and osteocalcin in calcified VSMCs increased greatly(P<0.01).Calcium content,ALP activities,~(45)Ca uptake and osteocalcin of calcified VSMCs stimulated by urotensin Ⅱ (10~(-10)、10~(-9) and 10~(-8) mol·L~(-1))were greatly increased in a concentration-dependent manner as compared with those of calcified group(P<0.01).Conclusion UrotensinⅡ aggravates the calcification of VSMCs induced by β-glycerophosphate.
9.An epidemiological investigation on the cases of Shanghai pre-hospital care in 2007
Rongfeng GUO ; Zaiqian CHE ; Jinglei LI ; Xiaoguang LI ; Weijun ZHOU ; Huiqiu SHENG ; Yanyan SONG ; Weijun WU ; Erzhen CHEN ; Yiming LU
Chinese Journal of Emergency Medicine 2008;17(11):1127-1130
Objective To analyze the epidemiologieal characteristics of the pre-hospital care cases in Shanghai in the year 2007. Method Based the demographic records in the year 2007, the cases which from the database of Shanghai pre-hospital care center with full items were analyzed. Chi-square test and exact probabilities were used to compete the consfituent ratio; and the method of circular distribution was used to calculate the peak time, date and month. Results There were 86 815 patients with pre-hospital care well documented from the ur-ban districts of Shanghai. The ratio of male to female was 3.89: 1. The senile patients accounted for 84.95% of all the pre-hospital care ones. The major causes of disease in patients with pre-hospital care were trauma, eere-brovascular disease,cardiac diseases, coma, high fever, tumor emergency, acute abodomen emergency,OB/GYN emergency and upper G1 tract bleeding in turn. During the daytime, the occurrence of those emergency patients with pre-hospital care usually peaked at 2:15 o' clock with the high frequency in the period of 5:45 to 17:45 o' clock.The top nine diseases had their own peak time and high frequency period, respectively. Within a year, no peak date occurrence of patients with prehospital care, in tolal, was found. Howerer, the occurrence of patients with high fever, acute abdomen and upper GI bleeding had specific peak dates within a year, respectively. Conclusioes The pre-hospital care eases in the urban of Shanghai have own epidemiologieal characteristics. Perfect the construc-tion of pre-hospital emergency care system, improving the professional training, and thereby meeting the require-ments are factors in the fundamental guarantee of improving the rescue full success rate of severe patients.
10.Protective effects of reduced glutathione on renal toxicity induced by vancomycin in critically ill patients
Juan LI ; Juan HE ; Enqiang MAO ; Xiaolan BIAN ; Ping GU ; Erzhen CHEN
Chinese Critical Care Medicine 2020;32(7):819-823
Objective:To observe the changes of renal function in critically ill patients after using vancomycin and analyze the renal protective effect of reduced glutathione (GSH) on vancomycin nephrotoxicity.Methods:The clinical data of patients with severe infection who were administered with vancomycin or plus infusion of GSH admitted to intensive care unit (ICU) of Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from January 2012 to October 2019 were collected during the study period, and the patients were divided into only vancomycin group and vancomycin combined with GSH group. The gender, age, body weight, underlying diseases, clinical diagnosis, severity score, renal function before and after taking the medicine, average daily dose and treatment duration of vancomycin and GSH, length of ICU stay and clinical outcomes were recorded and analyzed.Results:A total of 217 patients were enrolled, with 127 patients in the only vancomycin group, and 90 in the combination with GSH group. There was no statistically significant difference between the two groups in terms of gender, body weight, duration of vancomycin treatment, history of chronic kidney disease, and ICU mortality. The main causes of 217 patients admitted to the ICU were lung infection, sepsis/septic shock, and severe acute pancreatitis (SAP) and so on. The majority of patients in only vancomycin group had lung infections (63.0%), while the main etiology in combination with GSH group was SAP (46.7%). Compared with the only vancomycin group, the acute physiology and chronic health evaluation Ⅱ (APACHE Ⅱ) score in the combination with GSH group significantly decreased [15.0 (10.5, 21.0) vs. 27.0 (20.0, 31.0), P < 0.01], but the quick sequential organ failure assessment (qSOFA) score was significantly higher [1.0 (0, 1.0) vs. 0 (0, 0.2), P < 0.01], the basic renal function was poorer [serum creatinine (SCr, μmol/L): 102.0 (64.7, 178.0) vs. 56.0 (42.0, 71.0), blood urea nitrogen (BUN, mmol/L): 11.5 (6.7, 18.4) vs. 4.70 (3.5, 8.1), both P < 0.05], and the average daily dose of vancomycin was lower (mg·kg -1·d -1: 22.22±10.09 vs. 25.51±9.56, P < 0.05). The renal function of patients was getting worse significantly after vancomycin usage as compared with before [SCr (μmol/L): 68.0 (50.3, 103.4) vs. 56.0 (42.0, 71.0), BUN (mmol/L): 5.4 (3.6, 9.6) vs. 4.7 (3.5, 8.1), both P < 0.05]. However, the renal function indexes of the combination with GSH group were better than those before treatment [SCr (μmol/L): 81.0 (61.0, 129.0) vs. 102.0 (64.7, 178.0), P < 0.05; BUN (mmol/L): 8.4 (6.2, 17.8) vs. 11.5 (6.7, 18.4), P > 0.05], and the length of ICU stay was significantly shorter than that in the only vancomycin group [days: 29.0 (14.0, 54.2) vs. 37.0 (25.0, 55.0), P < 0.05]. Conclusions:The incidence of drug-induced renal injury caused by vancomycin is high. The GSH can significantly reduce their renal toxicity and shorten the length of hospital stay.