Objective To study renal involvement in hepatic glycogen storage disease(GSD) in childhood. Methods One hundred and eight patients aged less than 21 years old with type Ⅰa GSD (54 cases), type Ⅲ (29 cases) and uncertain type hepatic GSD (25 cases). Urine analysis, urine albumin, urine protein of 24 h, urine ?_2-MG, BUN, creatinine, Ccr were evaluated. Results Of 108 patients with hepatic GSD, 16 patients (20.8%) had proteinuria proven by urine albumin or urine protein of 24 h, their ages first found proteinuria were 8～15 years. Two 15-year-old patients had proteinuria over 1.0g/24h. Among 72 patients, urine ?_2-MG of 51 cases (70.8%) increased (175～10 623mg/L), and the mean urine ?_2-MG of type Ⅰ a GSD was much higher than that of type Ⅲ GSD, 4138.2 and 1790.1mg/L respectively. Of 91 patients, 10 had renal insufficiency, 1/10 (15-year-old girl) had heavy proteinuria (3.5g/24h), elevated BUN (9.3mmol/L) and Scr(1061 ?mol/L). Five elder patients (11～21 years old) had hematuria with renal colic caused by renal calculus. Conclusions Persistent protenuria, increased urine ?_2-MG, decreased Ccr, and renal stones are common complications of hepatic GSD in childhood. Renal function should be thoroughly evaluated during follow-up.

BACKGROUND: Phenylketonuria is caused by gene mutation of phenylalanine hydroxylasel (PAH), which is mainly induced by permutation, short segments and insertion of base.OBJECTIVE: To evaluate the gene mutation of phenylalanine hydroxylasel in phenylketonuria in Hui nationality.DESIGN: Open study.SETTING: Urumqi General Hospital of Lanzhou Military Area Command of Chinese PLA; Capital Pediatrics Institute.PARTICIPANTS: A boy of Hui nationality in China and aged 3.1 years was selected in this study. The boy had intellect hysteresis in his one year and received medical treatment in his three years, while he was diagnosed as cerebral paralysis. After repeatedly inefficient treatment, he was hospitalized in our hospital on December 13, 2004. Iron sesquichloride in urine was strongly positive and concentration of serum phenylalanine was 1 680 μmol/L; therefore, he was diagnosed as the typical phenylketonuria.METHODS: 5 mL venous blood was selected from the boy and his parents, respectively, and anticoagulated with EDTA-Na2. DNA in gene group was extracted by using typical phenol/chloroform method. In addition, polymerase chain reaction (PCR) primer sequence of extron 7, 6, 11, 3, 12 and 5 of PAH gene was designed based on references. And then, PCR products were detected with 2% agarose gel electrophoresis. 5 μL PCR products were mixed with the same volume of degenerated buffer solution, degenerated at 97 ℃ for 5 minutes, put in iced bath and performed with 80 g/Lnon-degenerated polyacrylamide gel electrophoresis. After that, the products were dealt with sliver staining routinely, and single strand DNA banding patterns were analyzed and recorded. ABI377 automatic sequenator (PE Company) was used to detect PCR sequence and purify PCR product in Shanghai Boya Biotechnology Company.MAIN OUTCOME MEASURES: Iron sesquichloride in urine, concentration of serum phenylalanine and mutant gene types of phenylalanine hydroxylase.RESULTS: Extron 7, 6, 11, 3, 12 and 5 of PAH gene were analyzed in the boy and his parents. The results demonstrated that SSCP electrophoresis in extron 6 was different from that in the normal control group. Site of electrophoresis strip of his father was coincident with that of his mother, but different from that of the boy. Sequencing results indicated that point mutation (cytosine replaced by thymine), which was a R176X mutant heterozygote, occurred at the 526th site of cDNA of phenylalanine hydroxylase gene in his parents; however, two chromosomes of the boy had mutation at the same site, which was R176X mutant homozygote.CONCLUSION: Mutation of R176X homozygote of phenylketonurea is firstly reported in Hui nationality in China.

ObjectiveTo investigate the expression of miR-155 in whole blood of patients with breast cancer and explore the possibility of miR-155 in whole blood as a marker of beast cancer. Methods65 cases (breast cancer:47 cases, non-breast cancer:18 cases) in Thyroid and Breast Surgery Department of No.1 People's Hospital of Huai'an from Dec 2010 to Apr 2011 were enrolled according to the selected criteria.Two milliliters anticoagulant blood were sampled to isolate total RNA.The expression level of miR-155 in whole blood was measured by real-time quantitative polymerase chain reaction (real-time qPCR)analysis.The relationship between the expression level of miR-155 in whole blood and the clinical pathological fearutres was analyzed.ResultsThe expression level of miR-155 in breast cancer patients was up-regulated compared with that in non-breast cancer patients(P ＜ 0.05).The expression level of miR-155 in patients with positive lymph nodes was up-regulated compared with that in patients with negative lymph nodes( P ＜ 0.05).The expression level of miR-155 in stage Ⅲ breast cancer was up-regulated compared with that in stage Ⅰ & Ⅱ breast cancer( P ＜ 0.05 ).The expression level of miR-155 in patients with positive ER and PR was down-regulated compared with that in patients with negative ER and PR breast cancer.Conclusion The study demonstrates that the expression of miR-155 in whole blood is related to clinical pathological features of patients with breast cancer and can be used as a potential marker of breast cancer.

Objective To investigate the incidence and related risk factors of post-traumatic stress disorders (PTSD) after acci-dents in the Pearl River Delta .Methods Inpatients after accidents from April 2009 to February 2010 in seven hospitals of the Pearl River Delta cities ,such as Guangzhou ,Shenzhen and Zhuhai ,were surveyed with PTSD Checklist-Civilian Version (PCL-C) and self-made questionnaire .Results In a total of 554 post traumatic patients ,a prevalence of 28 .5% of PTSD symptoms were found in this region with 7 .8% (marks≥50) of severe degree and 20 .8% (marks :38-49) of mild to moderate degree .In the severe PTSD symptoms group ,the top three items were getting nervous and upset once faced similar situation ,difficulty sleeping or easy to be a-wake ,and the trauma experience caused recurring disturbing memory ,ideas or image .Multivariate analysis showed that female ,una-ble self-care ,incapable of working ,lack help from friends ,multiple injury ,and injury time longer were all associated with the PTSD symptom incidence .Conclusion The prevalence of PTSD symptoms is relatively high in injured patients after accidents in the Pearl River Delta .Early identification and intervention of PTSD symptoms in post-traumatic patients are important for the prevention of PTSD .

Air ; analysis ; Alcohols ; analysis ; Electrophoresis, Capillary ; Workplace

Objective To analyze the therapeutic effect and prognosis of peritoneal dialysis in patients with end-stage polycystic kidney disease.Methods A retrospective analysis was performed on patients with polycystic kidney disease who were treated with peritoneal dialysis for more than 3 months between July 2007 and September 2016 in the Second Hospital Affiliated to Soochow University.A total of 45 patients were enrolled in this study.Another 45 patients of non-diabetic nephropathy were selected as the control group matched by gender,age,and time of PD initiation.The information of the two groups such as general data,dialysis related complications,incidence of peritonitis,prognosis was recorded.Survival analysis was performed using the Kaplan-Meier method and Log-rank test.The risk factors affecting patients' survival were analyzed with Cox regression model.Results There were no significant difference in pre-dialysis age,sex ratio,blood pressure,urine volume,body weight,eGFR,biochemical data,and the proportion of hypertension and diabetes mellitus in the polycystic kidney group and control group.24 h ultra-filtration volume,4 h D/Pcr,Kt/V and Ccr between the two groups showed no significant difference (all P ＞ 0.05).The incidence of peritonitis and the time of the first peritonitis in the two groups respectively as one episode per 82.4 months vs one episode per 81.5 months,(35.8±22.8) months vs (34.5±20.9) months had no statistical difference.The ratio of hernia (6.6％ vs 2.2％),thoracic and abdominal leakage (4.4％ vs 2.2％),dialysate leakage (0 vs 0),catheter dysfunction (4.4％ vs 6.6％),exit-site infections (11.1％ vs 6.6％),tunnel infections (4.4％ vs 2.2％) and non PD related infections (11.1％ vs 13.3％) had no significant difference.The 1-year,3-year,5-year patient survival of two groups respectively were 95.2％ vs 93.3％,78.9％ vs 75.0％,67.6％ vs 64.9％ (P=0.475),and 5-year technique survival was 78.7％ vs 76.7％ (P=0.623),demonstrating no obvious difference.Cox regression analysis showed that age and serum albumin were risk factors for the survival of patients.Conclusions The effect and prognosis of peritoneal dialysis in patients with polyeystic kidney and non polyeystic kidney were similar.Peritoneal dialysis is not the contraindication of polycystic kidney.Peritoneal dialysis can be used as a routine renal replacement therapy in patients with polycystic kidney disease.

Objective To analyze obese children serum lipid level in order to understand the relationship between serum lipid and cardiovascular disease in obese children.Methods One hundred and fifty-three children(109 male and 44 female)aged 4-16 years old with obesity who attended the outpatient clinic of Beijing Children′s Hospital were collected.Percentage body fat (%BF),body fat (BF),fat-free mass (FFM) was estimated by using bioelectrical impedance analysis (BIA) and calculate.Waist and hip circumference,waist-to-hip ratio (WHR) was estimated by soft tape measure and calculate.Skinfold thickness of scapular bone below (S) and triceps muscle (T),S/T rate was estimated by skin fold meter and calculate.Serum total cholesterol (TC),triglyceride(TG),high density lipoprotein(HDL-C),low density lipoprotein(LDL-C),apolipoprotein(Apo) AI and Apo B levels were also measured.SPSS 11.0 software was used to analyzed the data.Results The cardiovascular disease related was the prevalence of high TC levels(3.3%)or high LDL-C level(6.0%) and high TG level(24.7%) was rather low.HDL-C level was reduced in 31.3% of obese children.In children over 10 years old,%BW and %BF showed a weak correlation with HDL-C(r=-0.202,-0.211).Conclusions In obese children,serum lipid as well as Apo level should be exa-mined in order to evaluate angiocardiopathy.

Objective: To study the recombinant epitope antigens of hepatitis C virus (HCV), in order to fulfil the requirements of recombinant immunoblot assay kit. Methods: An expressing vector pBVIL1 for expression of recombinant antigens in a fusion manner with IL-1β was constructed. A series of selected genes from the HCV antigens including the C, NS3, NS4 and NS5 were amplified from HCV gene-containing plasmids using PCR and the expression plasmids for these genes were constructed in pBVIL1, respectively. The activity of the purified recombinant antigens were tested against an identified HCV antibody positive and negative panel with ELISA. Results and Conclusions: All the cloned genes of chosen antigen epitopes were highly expressed in pBVIL1 in E.coli. The activity of the C and NS4 antigens were slightly higher than the RIBA3.0 antigens, while the activity of NS3 was slightly lower than the RIBA3.0 antigen. But the total evaluation for the panel was same as RIBA3.0. That means the cloned antigens were suitable for the use in RIBA test kit.

The growth curve of single cell organisms in batch cultivation could divide into 6 phases, lag phase, acceleration phase, log phase, deceleration phase, stationary phase, and death phase, based on specific growth rate during cultivation process. There were significantly differences between deceleration phase and the other phases in cell growth, substrate consumption, product formation, and genes express profile. The deceleration phase was highly important to fermentation process. However, cognizing and teaching to the deceleration phase had been considerably weakened since a long period. So it should be strengthened.

Background Cryopreserved conduit valved homografts (CVH) have been widely used in surgical treatment of cardiac disease. This study aimed to determine the extent of host cell ingrowth and the durability and immunogenicity of CVH,and to compare the performance of CVH stored at 4℃ and CVH cryopreserved in liquid nitrogen at -196℃.Methods Heterotopic transplants of canine CVH stored at 4℃ (n=14) and cryopreserved in liquid nitrogen (n=14) were made onto the abdominal aorta of recipient dogs. Animals were sacrificed at 7 and 15 days and at 1, 3, 6, 9, and 12months after transplantation to excise the implanted CVHs. Tissue DNA extraction and quantitative polymerase chain reaction (PCR) were performed to calculate the ratio of donor cells and host cells in the CVH. The tissue viability of CVH after implantation was analyzed by detecting alkaline fibroblast growth factor 2 (FGF-2) using immunohistochemical staining and by observation under transmission electron microscope and scanning electron microscope.Results All the animals survived and recovered well. There were few repopulating host cells (0.04-0.83%) in the implanted CVH at 7 or 15 days. The ratio of ingrowing host cells into the CVH continued rising after implantation and reached 40%-47% in the 12th month postoperation. Histology, transmission electron microscopy and FGF-2immunohistochemical staining indicated that fibroblasts and the host's endothelial cells were the main cellular elements invading the CVH. There were no significant differences in results between CVH stored at 4℃ and CVH cryopreserved in liquid nitrogen.Conclusions Host cells growing into CVH are very important for maintaining the long-term structure and function of the implanted CVH. There is no significant difference between CVH storing at 4℃ or in liquid nitrogen in regard to the ingrowth of host cells or of morphologic features after CVH allografting.