Antiporters ; genetics ; Base Sequence ; Female ; Glycogen Storage Disease Type I ; diagnosis ; genetics ; Humans ; Infant ; Monosaccharide Transport Proteins ; genetics ; Mutation ; Polymerase Chain Reaction ; Sequence Analysis, DNA

Objective To investigate the incidence of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)in neonates with idiopathic neonatal cholestasis (INC)in Nanjing,China,SLC25A13 gene mutations in these neonates,and clinical features.Methods A total of 152 neonates with INC,who were admitted to the Affiliated Nanjing Children's Hospital of Nanjing Medical University from Sep-tember 2009 to August 2013,underwent gene analysis for detecting SLC25A13 gene mutations.The neonates were divided into NICCD group,who had been diagnosed definitely,and INC group at a ratio of 1∶2,considering the age and gender.Several biochemical indices were compared between the two groups.Comparison of continuous data between the two groups was made by Mann-Whitney U test after Bonferroni correction.Results There were 21 confirmed cases of NICCD (21/152,13.82%)among the 152 neonates with INC;five types of SLC25A13 mutations were identified in the 21 neonates with NICCD,including 851_854del (27/42,64.29%),IVS6+5 G→A (7/42, 16.67%),1638ins23 (5/42,11.90%),IVS11 +1 G→A (2/42,4.76%),and Q259X (1/42,2.38%).The alanine aminotransferase (ALT)level,aspartate aminotransferase (AST)level,bile acid concentration,albumin level,fasting blood glucose,blood ammonia,and prothrombin time for the NICCD group were 39.42 ±23.40 U/L,124.85 ±92.65 U/L,142.43 ±24.34μmol/L,30.66 ±2.70 g/L,2.79 ± 0.54 mmol/L,117.57 ±27.88 μmol/L,and 14.03 ±2.79 s,respectively,versus 136.02 ±113.67 U/L,226.12 ±129.26 U/L,80.47 ± 31.53 μmol/L,36.87 ±4.96 g/L,3.14 ±0.45 mmol/L,76.43 ±20.80 μmol/L,and 11.40 ±1.55 s for the INC group.The NICCD group had significantly lower ALT and AST levels than the INC group (Z=-5.02,P=0.000;Z=-3.66,P=0.000);the NICCD group had a significantly higher bile acid concentration than the INC group (Z=-5.58,P=0.000);the NICCD group had significantly lower albumin level and fasting blood glucose than the INC group (Z=-4.52,P=0.000;Z=-2.56,P=0.010);the NICCD group had a significantly higher blood ammonia level than the INC group (Z=-4.75,P=0.000);the NICCD group had a significantly longer prothrombin time than the INC group (Z=-4.10,P=0.000).Conclusion Citrin deficiency due to SLC25A13 gene mutations is an im-portant cause of INC in Nanjing.The three most common mutations are 851_854del,IVS6+5 G>A,and 1638_1660dup23,which account for 92.86% of the SLC25A13 gene mutations.More attention should be paid to clinical analysis and detection of SLC25A13 gene mutations to confirm the diagnosis of NICCD.

Objective To carry out the detection of JAGI gene in children with chronic cholestasis and to im-prove the diagnostic level and understanding of Alagille syndrome. Methods Two cases of chronic cholestasis with multiple organ involvement were selected as the research subjects and their clinical data,laboratory test results were col-lected. Two milliliter peripheral intravenous heparin anticoagulan blood was drawn from each patient. All fragments of 26 exons of the JAGI gene were amplified by polymerase chain reaction - sequence based on typing method. Results One patient with chronic cholestasis,heart murmur and dysmorphic face showed bile duct paucity in liver biopsy and a novel heterozygous mutation c. 809 809delG(p. G270Dfs*142)in 6 exon. Abnormal amino acid replaced JAG1 protein and resulted in truncation of the JAG1 protein. The part of epidermal growth factor(EGF)like repeats region loss and the cysteine rich region completely lost. One case with typical chronic cholestasis and dysmorphic face showed a known IVS20 - 2 5delTAAG heterozygous mutation which resulted in splice site changes. Conclusion A novel JAGI gene mutation c. 809 809delG(p. G270Dfs*142)is helpful to screen JAGI gene of Notch signal transduction pathway for chronic cholestasis with multiple organs involvement in children.

Objective To establish the standard for the quality control of Yubo Shaoshang Spray.Methods The identification of Rhizoma Polygoni Cuspidati and Cortex Phellodendri in Yubo Shaoshang Spray were carried out by TLC.The content of emodin in the preparation was determined by HPLC.Chromatographic column was adopted,methanol-0.1 %H3PO4 (85 ∶15) was used as the mobile phase,flow rate 0.80 mL/min, column temperature at 40℃and detection wavelength at 254 nm.Results The TLC spots were highly clear without the interference of negative control and were reproductive.The calibration curve for emodin was linear(r=0.9993) in the range of 0.1～0.5 ?g and the mean recovery rate was 99.34 %and RSD=1.33 %(n=5).Conclusion This method is simple and accurate for the quality control of Yubo Shaoshang Spray.

AIM:To explore the clinical value of combined detection of C-reactive protein ( CRP ) , erythrocyte sedimentation rate ( ESR) and white blood cell ( WBC) count in patients with ocular syphilis.
METHODS:Dates of CRP, ESR, WBC, TPPA and RPR of 51 ophthalmopathy patients caused by syphilis and 50 normal control from Jan. 2012 to Dec. 2015 in eye hospital were recruited and analyzed statistically.
RESULTS:The positive rates of CRP, ESR and WBC of oculopathy patients were 16%, 18% and 39%, respectively, which were higher than those in the control group. In patients group, the positive rate of ESR was higher than CRP and WBC. There were no obvious relationships between RPR titers and positive ratios of CRP, WBC and ESR.
CONCLUSION: The blood level of CRP, WBC and ESR may have certain help in estimating and monitoring condition of patients with ocular syphilis.

AIM:To investigate the protective effect of nerve growth factor combined with Ginkgo biloba extract on retinal ischemia-reperfusion (RIR) injury in rabbits with experimental high intraocular pressure.METHODS:Establishment of rabbit glaucoma ischemia reperfusion model.Twenty-four New Zealand white rabbits were randomly divided into three groups:nerve growth factor group, Ginkgo biloba extract group and combination group.Respectively, in the continuous administration of 1, 7, 14d.We observed the morphological changes of the tissues of the retina.The levels of superoxide dismutase(SOD), nitric oxide(NO) and malondialdehyde(MDA) in retinal tissue were measured.RESULTS:Respectively, first, in the continuous administration of 1, 7, 14d, the contents of MDA and NO in Ginkgo biloba extract group and nerve growth group were higher than that in combination group (P<0.05).Secondly, the SOD content of Ginkgo biloba extract group and nerve growth group were lower than that of combination group at each time point (P<0.05).At each time point, the number of HE staining of retinal ganglion cells (RGCs) showed that the loss of RGCs in the combination group was significantly lower than that in the other groups, and the ganglion cell count showed that the Ginkgo biloba extract group and the neuronal growth group were lower (P<0.05).CONCLUSION:Nerve growth factor combined with Ginkgo biloba extract has better protective effect on retinal ischemia-reperfusion injury.The mechanism may be related to the decrease of free radicals and increase the activity of SOD in retinal tissue.

Objective To evaluate the diagnostic value of Innovance D-dimer assay in patients with early thrombosis.Methods The D-dimer level was detected in 86 patients suspected with thrombosis and 40 healthy control subjects by using Innovance D-di-mer reagent.Results The D-dimer level was significantly higher in the case group[(4.14±7.29)mg/L]than in the control group [(0.17±0.12)mg/L],P =0.000.ROC curve analysis showed that D-dimer was a significant indicator for the clinical screening of thrombosis,and the higher D-dimer level,the greater possibility of thrombosis(AUC=0.938,P =0.000).The sensitivity,specifici-ty and negative predictive value have the satisfactory performance under the cut-off value of 0.50 mg/L.Conclusion The Innovance D-dimer is useful for excluding patients suspected with thrombosis,but it has a limited value in diagnosis of thrombosis.

Objective To studythe efficacy of levosimendan in treating refractory heart failure complicating severe renal in sufficiency.Methods Sixty-seven cases of refractory heart failure complicating severe renal insufficiency in the internal medicine department of our hospital were randomly divided into the levosimendan treatment group(L group,n=33)and dopamine treatment group(D group,n=34).The changes of N-terminal pro-B-type natriuretic peptide(NT-pro-BNP),left ventricular ejection fraction (LVEF)and glomerular filtration rate(GFR)before treatment and on 1,3,7,30 d after treatment were compared between the two groups and analyzed.Results Before the treatment,there were no statistically significant differences in the baseline indicators between the two groups(P＞0.05).The group L:the NT-pro-BNP level on 1,3,7 d after treatment was decreased significantly(P＜ 0.05),LVEF on 3,7 d was significantly increased compared with th baseline(P＜0.05)and GFR on 1,3,7,30 d was significantly increased compared with the baseline(P＜0.05).The group D:the NT-pro-BNP level on 7 d of treatment was significantly decreased(P＜0.05),LVEF on 7 d of treatment was significantly increased compared with the baseline(P＜0.05),and no statistically significant changes were observed in GFR on 1,3,7,30 d(P＞0.05).After treatment,NT-pro-BNP,LVEF and GFR significant level values in the group L were better than those in the group D.Conclusion Levosimendan is superior to dopamine in improving heart and renal function for the patients with refractory heart failure complicating severe renal insufficiency.

0.05).The frequency of VV genotype of Mn-SOD in the DR(+) group was significantly higher than that in the DR(-) group(92.0% vs 77.1%,P

Objective To observe the effect of low molecular weight heparin calcium combined with astraga-lus injection in the treatment of diabetic nephropathy.Methods From January 2013 to December 2014,78 patients with stage III diabetic nephropathy in our hospital were enrolled into the study.They were randomly divided into con-trol group(41 cases) and treatment group(37 cases).The control group received general therapy,such as low protein diets,compound alpha keto acid,insulin,irbesartan,simvastatin.The treatment group was treated with low molecular weight heparin calcium and astragalus injection on the basis of general therapy.The changes of urinary albumin and 24 hours urinary protein after treatment in the two groups were observed.Results After treatment,the negative rate of urinary micro albumin in the treatment group ( 75.68%) was significantly higher than that of the control group (29.27%)(χ2 =16.765,P<0.01).24 hour urinary protein of the treatment group[(176.2 ±82.3)mg/24h]was significantly lower than that of the control group[(223.8 ±87.8)mg/24h](t=2.471,P<0.05).Conclusion Low molecular weight heparin calcium combined with astragalus injection can reduce the proteinuria of diabetic nephropa-thy,it is an effective intervention therapy for early diabetic nephropathy.