1.Research on antibacterial property of snake venom antibacterial peptide OH-CATH and chitosan as artificial implant coating
Siman LI ; Guoyu YU ; Guomin ZHAI ; Zhenhua GAO ; Jihong SHEN ; Yancheng PENG
Chongqing Medicine 2014;(11):1287-1289
Objective To explore the bacteriostatic efficacy of snake venom antibacterial peptide OH-CATH and chitosan as ar-tificial implant coating on escherichia coli (E .coli) .Methods The catheters and dacron patches (blank group ,chitosan group ,cef-operazone group and antibacterial peptide group) were performed the pretreatment .Then the in vitro bacteriostatic test was conduc-ted to evaluate the antibacterial activity U value on E .coli ATCC 25922 and cephalosporin-resistant E .coli on 1 d and on 7 d after putting it into plasma .Results The cefoperazone group and the antibiotic peptide group had the very powerful antibacterial activity on E .coli ATCC 25922 on 1 ,7 d ,but the antibacterial activity of the cefoperazone group was stronger than that of the antibiotic peptide group(P<0 .05);the cefoperazone group had no antibacterial activity on cephalosporin-resistant E .coli ,but the antibiotic peptide group had significantly antibacterial activity on 1 ,7 d(P<0 .01) .Conclusion Snake venom antibacterial peptide OH-CATH has very obvious antibacterial effect on the standard strain and drug-resistant strain of E .coli and its value applied in artificial im-plant coating is affirmed .
2. Clinical and genetic characters of 8 Chinese children with ADCK4-associated glomerulopathy
Xiaoxiang SONG ; Hong XU ; Qian SHEN ; Li SUN ; Qi CAO ; Guomin LI ; Xiaoyan FANG ; Haimei LIU ; Yihui ZHAI ; Bingbing WU
Chinese Journal of Nephrology 2017;33(1):22-29
Objective:
To investigate the clinical and genetic character of Chinese children with the aarF domain containing kinase 4 (ADCK4)-associated glomerulopathy.
Methods:
Applying next generation sequencing to detect possible gene mutation(renal disease associated monogene was pooled as one panel) in 69 children with steroid-resistant nephrotic syndrome (SRNS) or persistent proteinuria of unknown origin. Sanger sequencing was used to confirm the significant mutations found in the children and to validate these mutation sites in their patients. Using online software (PolyPhen2, SIFT, Mutation Taster) to predict whether the detected missense mutations were disease causing or not. Collecting and analyzing clinical data of children with ADCK4-associated glomerulopathy, which included onset age, clinical manifestation, and renal pathology.
Results:
The ADCK4 gene mutation was detected in 8 children with a positive rate of 11.6% (8 out of 69), among which 3 patients carried homozygous c.748G>C mutation, 3 patients carried homologous c.737G>A mutation, 1 patient carried compound heterozygous mutation(c.748G>C and c.737G>A), and 1 patient carried compound heterologous mutation(c.551A>G and c.737G>A). Collectively, there were only 3 mutation sites found in total 8 patients, in which the mutation sites of c.748G>C and c.737G>A had high detection frequency in these 8 patients. These 3 mutation sites were all missense mutation which were predicted to be disease causing by online software and not reported before. The average onset age was 6.5 years (2 years-11.75 years). Four patients presented with SRNS and the other 4 presented with persistent proteinuria. All 8 patients had no extrarenal manifestation, renal biopsy revealed focal segmental glomerulosclerosis (FSGS) in most patients, among which 3 cases had gone to end-stage renal disease (ESRD) at disease onset, and 2 cases progressed to ESRD 2 and 5 years after onset respectively. Seven patients had received glucocorticoid and/or immunosuppressive drug while only one patient getting partial response. All 8 patients were treated with large amount of coenzyme Q10 (15 mg·kg-1·d-1) after definite diagnosis of ADCK4 mutation-some patients had acquired encouraging curative effect.
Conclusions
ADCK4-associated glomerulopathy is not rare especially in the children with SRNS. The onset age is relatively old and the extrarenal manifestation is less common. FSGS is a main pathology type. Patients usually have no response to immunosuppressive therapy, but may benefit from addition of large amount of coenzyme Q10. Some patients may only manifest with insidious proteinuria, causing the early diagnosis to be difficult, which deserves more attention. Three new missense mutations expand disease causing mutation repertoire of ADCK4 gene, among which the two sites of c.748G>C and c.737G>A may be mutation hotspot of ADCK4-associated glomerulopathy in Chinese population, and need further study.
3. Coenzyme Q10 treatment for one child with COQ6 gene mutation induced nephrotic syndrome and literature review
Qi CAO ; Guomin LI ; Hong XU ; Qian SHEN ; Li SUN ; Xiaoyan FANG ; Haimei LIU ; Wei GUO ; Yihui ZHAI ; Bingbing WU
Chinese Journal of Pediatrics 2017;55(2):135-138
Objective:
To summarize the clinical manifestation and molecular characteristics of COQ6 mutation induced nephrotic syndrome, and to evaluate efficacy of CoQ10 therapy.
Method:
Clinical data of the case with infantile nephrotic syndrome was summarized, including clinical manifestations, laboratory findings and family investigation. The patient received CoQ10 30 mg/(kg·d) therapy. Urine protein/creatinine ratio, serum albumin and creatinine were detected to assess the efficacy of the therapy.
Result:
(1) The 10 months old boy was presented with nephrotic level proteinuria and hypoalbuminemia. Extra-renal manifestations included cardiovascular abnormality, motor and mental retardation and unilateral ptosis. The patient had no consanguinity. A novel homozygous p. R360W mutation in COQ6 gene was identified and confirmed by next-generation sequencing and Sanger sequencing, respectively. Family analysis showed that homozygous p. R360W mutation in COQ6 gene was inherited from his parents. Missense p. R360W mutation was damaging by prediction online PolyPhen and SIFT software. After 2 months of CoQ10 complementary therapy, the patient′s urine protein/creatinine ratio declined from 7.2 to 1.3, and decreased further to 0.01 mg/mg with normal albumin level and renal function within 3 months. Nephropathy remission was maintained and growth retardation improved significantly during the last follow-up. Nevertheless, the patient manifested with sensorineural deafness at the age of 2 years. (2) There were 6 different mutations in coenzyme Q10 biosynthesis monooxygenase 6 (COQ6) in 13 individuals from 7 families by homozygosity mapping in the whole world. Each mutation was linked to early-onset SRNS with sensorineural deafness. Renal biopsy revealed FSGS in 7 cases and DMS in 1 case. Other manifestations included ataxia, seizures, facial dysmorphism, nephrolithiasis and growth retardation. Four patients received CoQ10 supplementation and responded to the treatment.
Conclusion
Renal disease caused by recessive COQ6 gene mutation was nephrotic syndrome. The patient benefited from early CoQ10 complement and reached nephropathy remission.
4.Phenotype analysis of 9 cases with mutations in PKHD1 gene
Guomin LI ; Qian SHEN ; Li SUN ; Qi CAO ; Yihui ZHAI ; Xiaoyan FANG ; Bingbing WU ; Hong XU
Chinese Journal of Nephrology 2017;33(11):831-837
Objective To summarize the clinical features of 9 cases with mutations in PKHD1 gene for a better understanding of its phenotype.Methods Clinical data of nine cases with mutations in PKHD1 gene were summarized from January 2011 to December 2016 in our center,including clinical manifestations,laboratory findings,imaging data and family investigation.Next generation sequencing was used to screen 4000 genes in case 1 to 4 and whole exons in case 5 to 9.Significant variants detected by next generation sequencing were confirmed by conventional Sanger sequencing.Segregation analysis was performed using parental DNA samples.Relevant literature was reviewed.Results Among these 9 cases,5 are male,4 are female.The average age of onset was 2.6 years old (ranging from 0.5-5.2 years).Renal ultrasound revealed that all 9 cases had cysts in bilateral kidney,7 cases with enlarged kidney,1 case with normal size kidney,1 case with normal size kidney,and 1 case with bilateral renal atrophy.Two cases with renal artery stenosis,1 case with focal narrowing in left main branch and 1 case with vesico-ureteral reflux were found.Among the 9 cases,3 cases had homozygous mutations,and 6 cases had compound heterozygous mutations,including 1 nonsense mutation,1 frameshift mutation and 15 missense mutations.There were 2 cases with 3 heterozygous mutations,2 c.5935C > T mutations and 2 eases with C.5869G > A mutations.A total of 10 new mutations were identified.Conclusion Patients with mutations in the PKHD1 gene had normal size kidney,or even atrophic kidney.Renal artery stenosis,vesicoureteral reflux and bronchial stenosis were all first reported in patients with mutations in PKHD1 gene.The novel mutations,c.274C > T,c.9059T > C,c.8996delG,c.281C > T,c.10424T > A,c.7092T > G,c.4949T > C,c.5869G > A,c.6197A > G and c.1877A > G further expanded the mutation spectrum of PKHD1 gene.
5.Rate of infection and related risk factors on hepatitis C virus in three counties of Jiangsu province.
Ke XU ; Liguo ZHU ; Fenyang TANG ; Changjun BAO ; Yefei ZHU ; Minquan CAO ; Guomin DU ; Jianfang XU ; Hong PENG ; Xiangjun ZHAI ;
Chinese Journal of Epidemiology 2014;35(11):1212-1217
OBJECTIVETo investigate the hepatitis C virus (HCV) infection rate among general population in Jiangsu province and to analyze the main risk factors for HCV infection.
METHODSSubjects in 3 counties were surveyed by stratified cluster random sampling in the National Major Science and Technology Projects demonstration area in Jiangsu province. Interview was carried out with uniformly- designed questionnaires. Blood samples were collected and anti-HCV tested. Data were analysed under SPSS 13.0. Case-control study was conducted on two groups with subjects under 1:4 matching by sex, age, village of residence and status of HCV infection. Cox's proportional hazards regression analysis was then performed to analyze the risk factors for HCV infection.
RESULTSThe positive rate of anti-HCV was higher in females (0.965%, 95%CI:0.899%-1.035%) than in males (0.572%, 95%CI:0.517%-0.632%). Significant differences were noticed among the positive rates of anti-HCV in the three counties (0.131%, 95%CI:0.103%-0.164%;0.316%, 95%CI: 0.268%-0.370%; 2.173% , 95% CI:2.039%-2.315% , respectively). Peak prevalence of anti-HCV (1.577%, 95%CI:1.425%-1.740%) was observed among persons at 50-59 years of age. Bottom rate (0.161%, 95%CI:0.125%-0.204%) was observed below 30 years of age. High anti-HCV positive rate was detected in people with lower education background or belonged to 'floating population'. Factors as having histories of hospitalization (OR = 3.049, 95% CI:1.322-7.036), blood transfusion (OR = 14.319, 95%CI:2.318-88.459) or sharing razor (OR = 3.604, 95%CI:1.096-11.851) were risk factors of HCV infection in the area with the lowest anti-HCV positive rate. In another county, factor as having histories of 'blood products transfusion' (OR = 7.202, 95% CI:1.170-44.310) appeared important while in the third county, having history of 'blood donation' (OR = 7.496, 95%CI:6.121- 9.180); 'blood transfusion' (OR = 2.305, 95%CI:1.578-3.369) and 'invasive physical examination' (OR = 1.258, 95% CI:1.021-1.549) appeared to be important. Age seemed a risk factor for HCV infection. "Sharing razor" was a specifically important risk factor among the 30- year-olds. "Having received acupuncture" was noticed a risk factor only among people at 50-59 years of age while "Having received invasive physical examination" was important in the 50-59 and 60-69 year-olds.
CONCLUSIONHigh anti-HCV positive rate was observed in people at middle of aged population, as well as in those with poor education or under 'floating'. Unsafe blood donation or having received blood-product transfusion might be the risk factors in the last decades. Factors as sharing razor, having received acupuncture or invasive examination might be specifically risky in different populations.
Blood Donors ; Blood Transfusion ; Case-Control Studies ; China ; epidemiology ; Female ; Hepacivirus ; Hepatitis C ; epidemiology ; Humans ; Male ; Prevalence ; Regression Analysis ; Risk Factors