Objective To explore the clinical features of lissencephaly and the detection ofLISI gene.MethodsThe characteristic of clinical features, laboratory examination and gene detection in one case of lissencephaly was retrospectively analyzed. Meanwhile, the related literatures were reviewed.ResultsA 5-month-old female child diagnosed with epilepsy 20 days ago was hospitalized for convulsive seizure more than 30 times in 3 days. The manifestations were eyes staring, and turning upward, cyanosis of lips and face, froth at the mouth, extremities rigidity and loss of consciousness, and the symptoms can spontaneously remitted in 2-3 minutes. Laboratory examination showed that peripheral blood white cell count was 13.67×109/L, hemoglobin 108 g/L, red blood cell count 3.90×1012/L, lymphocyte 10.26×109/L; maocardial enzyme and hepatic and renal function were normal; blood ammonia was 23 μmol/L and lactic acid 2.11 mmol/L. Long-range video EEG showed highly arrhythmia, and frequent partial epilepsy, and sometimes secondary generalized epilepsy. Head MRI showed lissencephaly. The child was treated with oral administration of Keppra 27 mg/(kg·day), Topiramate 6.5 mg/(kg·day), currently no seizure. The detection ofLIS1 gene found that heterozygous mutation of c.232delG, which lead to protein shift mutation (p.E78NfsX25). No mutation was found in her parents.ConclusionsChild with lissencephaly may combine with epilepsy which may cause by mutation inLIS1 gene. And there was no information about point mutation of c.232delG inLIS1 gene being reported at home and abroad so far.

Objective To study the clinical and genetic features of Lowe syndrome. Methods The clinical data and test results of OCRL gene from two children with Lowe syndrome were analyzed. The related literatures were reviewed. Re-sults Two male patients all presented with low molecular proteinuria, hypercalciuria, rickets and nephrolithiasis. Patient 2 had renal tubular acidosis, glycosuria and cryptochism. Patient 1 was found to have abnormal vision and congenital cataract soon after birth and treated surgically. Patient 1 also had psychomotor retardation and the cranial magnetic resonance ima-ging (MRI) showed agenesis of the corpus callosum. Patient 2 did not have obviously extra-renal symptoms, but was found to have mild cataract by a meticulous ophthalmological examination. MRI showed cerebral hypoplasia and myelination delay and mental retardation was gradually appeared during follow-up. Two OCRL gene mutations were detected. A splice site mutation NG_008638.1:g.46846-46848delTAA/insC was found in patient 1 and a frame shift mutation NM_000276.3:c.321delC in exon 5 was found in patient 2. Both mutations were not reported previously. Conclusions The diagnosis of Lowe syndrome is mainly by clinical manifestations and test of OCRL gene. Lowe syndrome needs to be included in the differential diagnosis of a patient with congenital cataract and renal tubulopathy. Two novel mutations in the OCRL gene were identiifed.

AIM: To investigate the effects of nitric oxide on ultrastructure and anionic sites of glomerular in renal ischemia reperfusion injured(I-RI) rats.METHODS: Animals were divided randomly into five groups:(1) sham group(n=6);(2) I-RI group(n=6),0.3 mL normal saline was injected via venae lingualis 20 min before ischemia;(3) SNP+I-RI group(n=6),2.5 ?g/kg sodium nitroprusside(SNP) was injected via venae lingualis 20 min before ischemia;(4) AG+I-RI group(n=6),10 mg/kg aminoguanidine(AG) was injected via venae lingualis 20 min before ischemia;(5) L-NNA+I-RI group(n=6),10 mg/kg N~?-nitro-L-arginine(L-NNA) was injected via venae lingualis 20 min before ischemia.Anionic sites of glomerular were studied with a cationic probe-polyethyleneimine(PEI) and ultrastructure was observed under electron microscope in renal I-RI rats.RESULTS:(1) Ultrastructure of glomerular was normal and anionic sites(AS) was located clearly in lamina rare externa of GBM in sham rats.The PEI particles arranged regularly in line(19.3?1.7/(1 000 nm)) under electronic microscope.Obvious foot processes derangement and effacement were observed and the AS number in GBM of I-RI group was fewer(16.6?1.0/(1 000 nm),P0.05).CONCLUSION: Foot process effacement and reduction of anionic sites were present in glomerular filtration membrane in renal I-RI rats.NO aggravated those injuries,indicating that NO plays a role in the ultrastructure damages of glomerular filtration membrane in I-RI rats.

Objective To investigate the association between single nucleotide polymorphism (SNPs) (rs1053005 and rs744166) and expression level of STAT3 gene and the susceptibility to acute lymphoblastic leukemia (ALL) in Chinese children.Methods A case-control study was performed,and 184 children with ALL and 377 healthy children as controls were recruited.The genotypes of 2 SNPs were detected by using polymerase chain reaction-restriction fragment length polymorphism method.And the expression level of STAT3 gene was detected by using real-time PCR;All the data were analyzed by using SPSS 16.0 software.Results (1) In this study,the genotypes (GG,AG,AA) of rs1053005 had a significant difference between the ALL group and control group (x2 =6.737,P =0.034).Compared with control group,the A allele had a higher frequency in ALL group and A allele was a risk factor(x2 =5.853,P =0.016).But,there was no difference in frequency of genotype rs744166 between the 2 groups (x2 =1.866,P =0.393).(2) There was no significant association between genotypes and risk degree among 3 groups (high risk group,medial risk group and standard risk group) (x2 =0.335,P =0.987).(3) The expression level of STAT3 gene in patients with AA genotype was lower than that of the patients with GG genotype (t =4.758,P =0.009);and compared with patients of the standard risk group,high risk patients had a lower expression level of STAT3 gene (t =5.284,P =0.007).Conclusions The polymorphism of SNP rs1053005 was associated with ALL,with A allele being a risk factor;and the expression level of STAT3 gene maybe associated with the risk degree in ALL patients.

Objective To investigate the association of single nucleotide polymorphism (rs2295080) inmTOR gene with the susceptibility to acute leukemia (AL) in Chinese children.Methods A case-control study was performed by recruitment of 180 children with AL and 296 healthy children as controls. The genotype of this SNP was detected using PCR-RFLP. The data were analyzed by SPSS19.0.Results There was a signiifcant difference in genotypes in three groups (ALL, AML and con-trol) (P=0.026). And the SNP was associated with AL, with G allele being higher in AL group than that in controls (OR=1.413, 95%CI: 1.050-1.901,P=0.022). In ALL group, G allele was also higher than that in healthy group (OR=1.456, 95%CI: 1.052-2.015, P=0.023). However, no signiifcant association was observed in AML patients (P=0.302). In addition, ALL patients with GG gen-otype were associated with disease severity compared with patients with TT or GT genotype (OR=2.044, 95%CI: 0.569-7.341). ConclusionThe rs2295080 was associated with ALL, with G allele being a risk factor.

Objectives Through analyzing the published scientific papers from 2001 to 2010 by the professionals of the 31 provincial Center for Disease Control and Prevention in China,offer reference for making plan about scientific research,disciplinary areas,personnel training.Methods Literature quantitative analysis and health statistics methods were used to analyze these papers.Results The professionals in 31 provincial CDC published a total of 22079 papers,Zhejiang 1669(7.56％),Guangxi 1579 (7.15 ％),Jiangsu 1410 (6.39 ％) are the top 3 provinces.The ratio of published papers in Zhonghua medical journal among all the papers are 1366(6.19％),the first three provinces Tianjinlll (13.67％).Beijing160 (13.57％).Shaanxi34 (10.59％).Average papers published by the eastern,central and western regions are 1131,452,444,eastern above western regions (P =0.0065.P =0.0028).Conclusion In recent ten years,the quantity and quality of papers published by the professionals of provincial CDC in China were improved.The unbalanced development exist among eastern,central and western regions,But the majority CDC's papers should be strengthened further.

Objective To investigate the prevalence,missed diagnosis rate and causes of acute kidney injury (AKI) in hospitalized children,and its impact on hospitalization cost,length of stay and outcome.Methods The data of children admitted in Children's Hospital Affiliated to Capital Institute of Pediatrics from December 1st to 31st 2014 were collected,and those whose serum creatinine (Scr) were measured at least two times were selected.Patients were diagnosed as AKI according to the diagnostic criteria of 2012 Kidney Disease:Improving Global Outcomes,then divided into AKI group and non-AKI group,the former of which was further divided into AKI1 group (Scr peak value in normal range) and AKI2 group (Scr peak value above normal range).The causes and impact of AKI on hospitalization cost,length of stay and outcome in different groups were compared and analyzed.Results (1) Among 921 patients with at least two Scr results,170 patients met with the diagnostic criteria of AKI,including 100 males and 70 females.There were 112(65.9％) in AKI stage 1,43(25.3％) in stage 2,and 15(8.8％) in stage 3.The overall prevalence of AKI was 18.5％.With only 7cases getting diagnosed,the diagnostic rate was 4.1％,while 95.9％ of patients missed diagnosis.(2)Among AKI patients,67 cases had pre-renal causes,103 cases had intra-renal causes and mixed factors.100(58.8％) cases got complete recovery,34(20.0％) cases recovered partially and 36(21.2％)cases did not improve,including 4 cases of death.(3) The prevalence of AKI among those below 1-year old was higher than children elder than 1-year (23.0％ vs 15.5％,P=0.004).The prevalence of AKI in surgical ward was higher than medical ward (30.7％ vs 15.8％,P ＜ 0.001).(4) Compared with those in non-AKI group,there was lower age [1.1(0.2,3.5) year vs 2.0(0.3,4.9) year] and higher hospitalization time[12.5(8.0,20.0) d vs 8.0(6.0,11.0) d],hospitalization costs [25 279.2(13 822.8,48 856.7) yuan vs 12 616.9(8680.1,19 345.1) yuan] and mortality (2.4％ vs 0.3％) in AKI group (all P ＜ 0.05).(5) There were 126 cases in AKL group and 44 cases in AKI2 group.The costs of hospitalization,outcome and mortality showed no difference between two groups (all P ＞ 0.05).The hospitalization time in AKI2 group was shorter than that in AKL group (P=0.038).Conclusions Among hospitalized children the missed diagnosis rate of AKI is high.Pre-renal factor is the main cause of AKI.Children younger than 1-year old are more susceptible to AKI.AKI children have lower age and higher hospitalization time,hospitalization costs and mortality than non-AKI children.The effect of Scr fluctuation within normal levels needs to be further studied.

Phthalic acid esters (PAEs) are commonly used plasticizers and solvents. Human body is exposed and absorbed mainly through diet, skin and air inhalation. The biological samples such as urine, blood, saliva, semen and breast milk generally contain PAEs and their metabolites, but the concentrations of PAEs metabolites vary in different samples. In the general population, the levels of PAEs are higher in children than in adults, and higher in women than in men; the levels of PAEs are higher in the occupational population than in the general population. In this paper, the research of PAEs related human biomonitoring in the general population and occupational population at home and abroad is reviewed, so as to provide the basis for reducing the exposure of PAEs and related health risk.

Objective: To analyze the relationship of clinical manifestations and pathological characteristics of Henoch-Schönlein purpura nephritis combined with hyperuricemia in children. Methods: A retrospective study was conducted in 50 children with Henoch-Schönlein purpura nephritis who hospitalized at Department of Nephrology, Affiliated Children′s Hospital, Capital Institute of Pediatrics from January 2014 to May 2018.The differences between the hyperuricemia group(19 cases)and the normal uric acid group(31 cases), were compared in age, sex, blood pressure, serum albumin, 24-hour urinary protein, serum creatinine, triglyceride, cholesterol, high density lipoprotein, low density lipoprotein, serum uric acid, estimated glomerular filtration rate, and renal pathological characteristics, and the short-term prognosis was analyzed. Results: (1)The average urinary protein in the hyperuricemia group and the normal uric acid group was (91.67±90.37) mg/(kg·d) and (64.62±43.28) mg/(kg·d), respectively and the difference was statistically significant between the both groups(t=2.04, P=0.047); and the morbidity with massive proteinuria in hyperuricemia group and normal uric acid group was 18/19 cases(94.7%)and 17/31 cases(54.8%), respectively and the difference was statistically significant between the both groups(χ²=8.930, P=0.003). (2)In all cases, there were 4 cases of glomerular pathological grade Ⅱ, 43 cases of grade Ⅲ and 3 cases of grade Ⅳ.The pathological grading of hyperuricemia group and normal uric acid group was mainly grade Ⅲ, including 16/19 cases (84.2%) in hyperuricemia group and 27/31 cases (87.1%) in normal uric acid group, 4 cases of grade Ⅱ in normal uric acid group and 3 cases of grade Ⅳ in hyperuricemia group, the pathological grade of hyperuricemia group was relatively severe (χ²=7.358, P=0.025). There was no significant difference about the degree of global sclerosis and mesangial proliferation between hyperuricemia group and normal uric acid group(χ²=2.426, P=0.119, χ²=0.043, P=0.836, respectively); 7/19 cases (36.8%) had severe foot process lesions in hyperuricemia group, which was significantly higher than that in normal uric acid group [4/31 cases(12.9%)](χ²=3.934, P=0.047). In hyperuricemia group, tubulointerstitial lesions were found in 9/19 cases (47.4%) of (+ ) grade and 10/19 cases (52.6%) of (+ + ) grade, and 12/31 cases (38.7%) had normal tubulointerstitium in normal uric acid group, (+ )and (+ + )grade lesions were also less than those in the hyperuricemia group(χ²=10.694, P=0.005). The mean scores of tubular atrophy and interstitial fibrosis were significantly higher in hyperuricemia group than that in normal uric acid group(t=2.36, P=0.001). (3) The interval from renal biopsy to final visit was 10.0 months and 10.5 monthsin hyperuricemia group and normal uric acid group respectively (P=0.85). In hyperuricemia group, complete remission was found in 5/19 cases (26.3%), slight abnormality in 10/19 cases (52.6%), severe abnormality in 4/19 cases (21.1%). Howe-ver, in normal uric acid group, complete remission was found in 19/31 cases (61.3%), 10/31 cases (32.3%) of slight abnormalities and 2/31 cases (6.5%)of severe abnormalities.The non-remission cases in the hyperuricemia group were significantly higher than those in the normal uric acid group(χ²=7.878, P=0.042). Conclusions Urinary protein was higher in children with Henoch-Schönlein purpura nephritis complicated with hyperuricemia, the pathological of renal tubulointerstitium and glomerulus and the foot process change are more serious than those of patients with normal uric acid.Therefore, hyperuricemia may be used as a risk factor for poor prognosis.

Objective: To learn the disinfection effect and its influencing factors of drinking water in rural areas of Zhejiang Province,so as to provide scientific basis for the control of microbial pollution in drinking water and prevention of waterborne diseases. Methods: A total of 5 299 samples from 879 rural water plants Zhejiang Province were collected by stratified sampling method in 2017. The disinfection effect of water samples was assessed quality according to GB 5749-2006 Hygienic Standards for Drinking Water. Logistic regression models were used to analyze the influencing factors for disinfection effect of rural drinking water. Results: There were 540 rural water plants in Zhejiang Province adopting routine process for water purification,accounting for 61.43%;771 ones using surface water,accounting for 87.72%. About 4 458 samples（84.13%）were disinfected and the qualified rate was 86.05%,22.32% of which were disinfected by chlorine dioxide and the qualified rate was 100.00%. The results of multivariate logistic regression analysis showed that scale of water plant,disinfectant residue,use frequency of disinfection equipment,disinfection,season and source water turbidity were the influencing factors for the disinfection effect of rural drinking water（P<0.05）;disinfection,disinfectant residue,use frequency of disinfection equipment and source water turbidity were the influencing factors for the disinfection effect of finished water（P<0.05）;disinfection,disinfectant residue,use frequency of disinfection equipment,source water turbidity and scale of water plant were the influencing factors for the disinfection effect of tap water（P<0.05）;disinfectant residue,use frequency of disinfection equipment,source water turbidity and scale of water plant were the influencing factors forthe disinfection effect of surface water（P<0.05）;disinfectant residue,use frequency of disinfection equipment,source water turbidity and pH were the influencing factors for the disinfection effect of groundwater（P<0.05）. Conclusion The disinfection effect of drinking water in rural areas of Zhejiang Province is associated with source water quality,scale of plants,water purification technique and so on. The disinfection process should be improved,the management of water plants should be strengthened to reduce the risk of microbial contamination.