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.

S-nitrosation, which involves the formation of an S-nitroso function group on a protein cysteine residue, is a prototypic redox-based post-translational modification of proteins, and thereby conveys a large part of the ubiquitous influence of nitric oxide on cellular signal transduction. A purview of this modification was given mainly concerning the characteristics, the detection methods, the functional effects, the relevant diseases and the perspectives.

Abstract Bisphenols (BPs), which are mainly used in the production of polycarbonates and epoxy resins, are common endocrine disruptors (EDCs) in natural environments. Human mainly exposes to BPs via ingestion and skin. Previous studies have deteted BPs in human urine, serum, and milk samples, and children and pregnant women have a high level of exposure to to BPs. Based on international and national publications pertaining to BPs since 2009, this review describes the exposure to BPs in human urine, serum, and milk and summarizes neuroendocrine dysfunctions, oxidative stress injury and epigenetics changes caused by BPs, so as to provide insights into reducing the exposure to and health risk of BPs.

Objective:To investigate the effects of repetitive transcranial magnetic stimulation (rTMS) on behavioral and psychological symptoms and quality of life in patients with mild to moderate Alzheimer disease (AD).Methods:Forty mild and moderate patients who met the diagnostic criteria of AD in the tenth edition of the International Classification of Diseases from May 2017 to December 2018 in the Seventh People′s Hospital of Wenzhou City were selected and divided into the control group (20 cases) and the rTMS group (20 cases) according to random number list. The control group was treated with basic treatment while the rTMS group was treated with rTMS on the basis of the basic treatment. The scores of AD assessment scale-cognitive section (ADAS-cog), mini mental state examination (MMSE), neuropsychiatric inventory (NPI), activity daily living (ADL), and quality of life in AD (QOL-AD) were observed and compared between the two groups before and after treatment.Results:There were no significant differences in ADAS-cog, MMSE, NPI, ADL, and QOL-AD scores between the rTMS group and the control group before treatment ( P>0.05). After treatment, the MMSE, ADL, and QOL-AD scores of the rTMS group were significantly higher than those of the control group: (22.80 ± 3.83) scores vs.(20.30 ± 5.49) scores, (63.05 ± 17.24) scores vs. (54.15 ± 9.20) scpres, (37.55 ± 7.94) scores vs. (31.00 ± 11.45) scores; the ADAS-cog and NPI scores were significantly lower: (18.45 ± 4.16) scores vs.(22.15 ± 5.01) scores, (57.2 ± 16.25) scores vs. (72.65 ± 39.37) scores, (27.15 ± 7.53) scores vs. (34.65 ± 14.91) scores, and there were significantly differences ( P<0.05). At the same time, the MMSE, ADL, and QOL-AD scores of the rTMS group were significantly higher than those before treatment, the ADAS-cog and NPI scores were significantly lower, and the difference was statistically significant ( P<0.05). Conclusions:rTMS can effectively improve the behavioral and psychological symptoms of patients with mild to moderate AD and significantly improve the quality of life.

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 clinical features of a patient diagnosed with Jacobsen syndrome (JBS) and Paris-Trousseau syndrome (PTS) using chromosomal microarray analysis. Method A retrospective analysis including the patients' clinical manifestations, laboratory examination and genetic analysis was carried out and related literature were reviewed. Results A 14 month-old girl with global development retardation was reported. The patient can sit but cannot walk independently. The patient also presented hypsicephaly, ocular hypertelorism, palpebral ptosis, flat nasal bridge, sparse eyebrows, and speech delay. Gesell development scale showed that the patient was global development retarded with a development level of 40 weeks. No o bvious abnormality was found in EEG but the MRI showed cerebral white matter abnormality. This patient was also diagnosed with neonatal thrombocytopenia in other hospital. Genomic CNVs were detected in this girl, and a 15.7Mb loss was found in the 11q23.3q25 region that covers JBS and PTS region. Conclusions Patient diagnosed with JBS and PTS often present with craniofacial abnormalities, cerebral white matter abnormality and neonatal thrombocytopenia. Chromosomal microarray analysis can help diagnosis.

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.

Triclosan, widely used in various personal care products, is one of the most common environmental endocrine disruptors in our life. It can be detected from water, soil and dust, and its environmental exposure level increased with consumption. Human body are exposed to triclosan through food and water, but the evidence that triclosan exposure leads to adverse health effects is not sufficient. This paper summarizes the progress of studies related to environmental concentration, population exposure and health risks of triclosan in recent years.

Objective : To understand the status of rural environmental sanitation and summer diarrhea among rural residents in Zhejiang Province,and to provide evidence for improvement of rural environmental sanitation and prevention and control of summer diarrhea. Methods : The stratified random sampling method was used. Five or six counties each were selected from the east,middle and west of Zhejiang Province;five townships（excluded Chengguan Town）were selected from each selected county;four villages were selected as field survey points from each township;five households were selected from each survey point;one family member（householder or housewife）was selected from each selected household. The information about the environmental sanitation status and prevalence of summer diarrhea were obtained by literature review,interviews,questionnaire suvey,field investigation and laboratory tests. Logistic regression model was used to analyze the influencing factors for occurrence of summer diarrhea among rural residents. Results : There were 2 000 households surveyed. In the past two weeks,108 households had families with diarrhea and the prevalence of diarrhea was 5.40%. A total of 1 828 households disposed the household waste in the garbage bins or pools,accounting for 91.40%. There were 1 926 households with organized sewage discharge,accounting for 96.30%. There were 768 households with nymphs found in the kitchen,accounting for 38.40%;404 households with live egg sheaths found,accounting for 20.20%;592 households with cockroach traces found,accounting for 29.60%;564 households with rat traces found,accounting for 28.20%;and 1 206 households with flies found,accounted for 60.30%. There were 1 314 households with disease vectors around the house,accounting for 65.70%. There were 1 944 household with sanitary toilets,accounting for 97.20%. A total of 1 915 households had habits of drinking boiled water,accounting for 96.57%. The results of multivariate logistic regression analysis showed that rat traces found in the kitchen（OR=2.026,95%CI: 1.362-3.013）were a risk factor for summer diarrhea in rural residents,while drinking boiled water（OR=0.272,95%CI: 0.091-0.811）was a protective factor. Conclusion The sanitary environment and family health habits of rural residents were related to the prevalence of diarrhea in summer. Paying attention to kitchen hygiene and drinking boiled water could prevent summer diarrhea.