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1.
Article in Chinese | WPRIM | ID: wpr-879504

ABSTRACT

OBJECTIVE@#To detect genetic variant in a sib-pair with Finnish type congenital nephrotic syndrome (CNF).@*METHODS@#Clinical data of the sib-pair was reviewed. Coding regions of the NPHS1 gene was analyzed for the sib-pair and both parents.@*RESULTS@#The sister and brother respectively developed severe proteinuria 1 month and 28 days after birth, in addition with low serum albumin, hypercholesterolemia and severe edema, which were suggestive of CNF. Genetic testing identified that the sib-pair has both carried two heterozygous variants of NPHS1 gene, namely c.2605G>C (p.P869>A) and c.-61G>A, for which their father and mother were heterozygous carriers.@*CONCLUSION@#The c.2605G>C (p.869P>A) and c.-61G>A variants of the NHPS1 gene probably underlay the CNF in both sibs. The c.2605G>C(p.869P>A) was unreported previously.


Subject(s)
Adult , Female , Humans , Infant, Newborn , Male , Membrane Proteins/genetics , Mutation , Nephrotic Syndrome/genetics , Siblings
2.
Chinese Journal of Biotechnology ; (12): 1610-1619, 2020.
Article in Chinese | WPRIM | ID: wpr-826816

ABSTRACT

Autophagy is one of the most common protective mechanisms during plant stress response. We studied the effect of exogenous Cd on autophagy in celery, by using transcriptome sequencing technique to analyze the differentially expressed genes under different Cd concentrations (0, 2, 4 and 8 mg/L). Eight differentially expressed autophagy-related genes were screened and identified by qRT-PCR. Cd had obvious toxic effect on celery, in a dose-dependent manner. Eight differentially expressed autophagy-related genes were screened, among which ATG8a, ATG8f, ATG13, AMPK-1 and AMPK-2 were up-regulated, whereas ATG12, VPS30 and VPS34 were first up-regulated and then decreased. The up-regulated expression of differential genes may resist Cd toxicity by increasing autophagosome structures; however, 8 mg/L Cd exceeded the autophagosome tolerance limit of celery, resulting in decreased expression of multiple autophagy-related genes. The above results can provide help for subsequent functional study of autophagy-related genes, and provide a reference for further exploring the tolerance mechanism of celery to Cd toxicity.

3.
Article in Chinese | WPRIM | ID: wpr-802869

ABSTRACT

Objective@#To investigate the drug resistance and risk factors of community-acquired urinary tract infection(UTI) caused by extended-spectrum β-lactamase(ESBLs)-producing Escherichia coli in children.@*Methods@#The clinical data of 125 children with community-acquired urinary tract infection caused by Escherichia coli were analyzed, who were hospitalized at Department of Pediatric Nephrology of Tianjin Children′s Hospital from June 2017 to June 2018.The ESBLs-producing group and the non ESBLs-producing group were named depending on the production of the ESBLs.WHONET 5.6 bacterial resistance monitoring software was used to calculate the drug resistance rate of bacteria.The drug resistance rate and clinical data were analyzed by adopting χ2 test and Fisher′s exact probability method, then, factors with statistical significance identified by single factor analysis were further analyzed by multivariate Logistic regression analysis.@*Results@#Among 125 strains of Escherichia coli, 68 strains(54.4%) were ESBLs-producing Escherichia coli and 57 strains(45.6%) were non ESBLs-producing.The drug resistance rates of ESBLs-producing Escherichia coli to penicillins, cephalosporins, quinolones and monocyclic beta-lactams were higher than those of non ESBLs-producing strains, and the drug resistance rates to Ampicillin, Piperacillin, Cefazolin, Cefuroxime, Ceftriaxone and Cefotaxime were nearly 100%.The resistance rates of ESBLs-producing strains to Imipenem, Meropenem, Amikacin, Furantoin, Cefotetan and Piperacillin/Tazobactam were lower (< 5%). Univariate analysis showed that there were significant differences in recurrent UTI (χ2=12.043, P<0.01) and use of third-generation cephalosporins in the past 3 months(χ2=28.545, P<0.01) between ESBLs-producing group and non ESBLs-producing group.Multivariate Logistic regression analysis showed that use of third-generation cephalosporins in the past 3 months was an independent risk factor of community-acquired UTI caused by ESBLs-producing Escherichia coli(OR=11.285, 95%CI: 3.140-39.134, Wald=13.972, P<0.01).@*Conclusions@#The isolation rate of ESBLs-producing Escherichia coli in children with community-acquired UTI is high, and the drug resistance rate is high, so children who used third-generation cephalosporins in the past 3 months were more likely to develop community-acquired UTI caused by ESBLs-producing Escherichia coli.

4.
Article in Chinese | WPRIM | ID: wpr-486528

ABSTRACT

Objective To screen the genes most relevant to lymph node metastasis of cervical cancer and identify the genes at the key knots of the regulatory network to provide the potential targets for cervical cancer intervention.Methods The transcriptional profiling database of TCGA was used, and random forests algorithm was adopted to rank the genes related to lymph node metastasis extracted from GeneCards database.STRING and Cytospace tolls were used to build the interactive regulatory network and identify the most weighted genes localized in the central of the network.DAVID platform was used to perform a functional annotation for the whole geneset.Results We ranked 2784 genes in respect to their potential contributions to lymph node metastasis of cervical cancer and identified the genes at the key knob.The genes related to cancer metastasis were enriched to cytokines pathway, MAPK pathway, wnt pathway, intercellular interaction, adhesive conjunction, cellular skeleton regulation, etc.Some of the identified key genes, like EGFR, NOTCH1, RHOA, etc. have been verified to be closely related cervical cancer metastasis in the basic and clinical research. Conclusion Random forests algorithm is useful, taking advantages of TCGA database, in enriching the genes playing significant role in cervical cancer metastasis.A majority of the genes in the analyzed geneset were indicated to be significantly correlated with lymph node metastasis.

5.
Tianjin Medical Journal ; (12): 1307-1310, 2015.
Article in Chinese | WPRIM | ID: wpr-481420

ABSTRACT

Objective To explore changes of urine transferrin (TFR),micro albumin (mALb),β2 microspheres protein (MG),α1MG and N-acetylβ-D amino group (NAG) in children with kidney injury induced by cytomegalovirus (CMV) infec?tion, and the outcome after treatment. Methods Fifty children with CMV infection were used as case group, and 35 chil?dren of convalescence stage of upper respiratory tract infection were used as control group. The serum levels of creatinine (Scr), blood urea nitrogen (BUN),β2MG, liver function, CMV-IgM, CMV-PCR and brainstem auditory (BAEP), head CT and urine routine test, urine TFR, mALb,β2MG,α2MG and NAG were detected. The sputum CMV-PCR was detected if childrencombined with CMV pneumonia. Ganciclovir (5mg/kg) was given to two groups, 1/12 h i.v. for 14 d. The urine TFR,mALb,β2MG, α2MG and NAG were detected again after treatment. Results There were no significant differences in the urine mALb and TFR between the two groups. The urine levels ofα1MG, NAG andβ2MG were higher in case group than those of control group. The urine levels ofα1MG, NAG andβ2MG were decreased after 2-week treatment in case group. There were no significant differences in urine mALb and TFR before and after treatment. Conclusion The combined detection ofβ2MG,α1MG and NAG can predict CMV kidney damage in children at a early stage.

6.
Article in Chinese | WPRIM | ID: wpr-414681

ABSTRACT

Objective To explore the influencing factors of frequent relapse primary nephritic syndrome (PNS) in children according to the statistical analysis of their clinical data and laboratory examinations. Method We collected in-hospital and out-patient medical records of children who were diagnosed PNS from Jan. 2007 to Feb. 2010 and whole clinical data were analyzed. Results In 245 cases of children with steroid sensitine nephrotic syndrome, non-frequent replapse (NFR) accounted for 82.4% and frequent relapse (FR) accounted for 17.6%. In univariate analysis, period of first relapse between initial treatment remission within 3 months , level of serum total protein and cholesterol and IgE at onset had statistical significance in FR children and NFR children, which were significant predictors of FR. The logistic regression analysis revealed that the first relapse after initial treatment remission within 3 months and increasing of serum IgE level (more than 358 IU/ml)were risk factors of FR. Among frequent relapses factors, infection, especially upper respiratory tract infection was the first (65. 1%). The relapse with motivation mainly in January to March, accounted for 30. 4%. Conclusion FR had a proportion of 17. 6% in children with PNS under regular glucocorticoid treatment. It showed seasonality feature that relapse. peak in winter and spring. Level of the serum total protein less than 40g/L and cholesterol more than 10mmol/L at onset can be predictive index of FR. Infections are the main motivation of relapse, but the relapse by irregular treatment and specific constitutions should be pay more attentions too.

7.
Chinese Journal of Nephrology ; (12): 203-208, 2011.
Article in Chinese | WPRIM | ID: wpr-412553

ABSTRACT

Objective To investigate the effects of azithromycin on serum indicators, urine indicators, renal pathology, intercellular adhesion molecule-1 (ICAM-1), nephrin and podocalyxin in adriamycin(ADR)-induced nephropathy(ADN) rats. Methods ADR nephropathy was induced by a tail intravenous injection of ADR. The rats were randomly divided into azithromycin-treated group, prednisone -treated group, integrated treatment group, model group and control group. Serum index and 24 h urine protein were measured serially at 0, 4th, 8th weeks. The values of creatinine clearance (Ccr) were calculated. Kidney tissues were collected for microscopy observation. The expressions of nephrin, podocalyxin and ICAM-1 in renal tissue were detected by immunohistochemistry SP. Results Compared with normal control group, at the 4th week, 24 hours urine protein and albumin reached the level of ADR nephropathy model. Compared with model group, at the 8th week, 24 h urine protein, cholesterol, serum creatinine, renal pathology changes in the three treated group rats were significantly reduced (P<0.05), serum total protein, albumin and Ccr (except C group) significantly raised (P<0.05), ECM/GA and renal pathology score significantly reduced (P<0.01), ICAM-1 significantly decreased (P<0.01), nephrin and podocalyxin significantly increased. Besides, the curative effect of integrated treatment was better than other treatment group. Conclusions Azithromycin induces similar responses in ADR nephropathy as prednisone, but its early protective effect of renal function is worse than prednisone.The integrated treatment of azithromycin and prednisone has a synergistic effect, and the efficacy is superior to each drug alone.

8.
Article in Chinese | WPRIM | ID: wpr-385010

ABSTRACT

Objective To analyze the immunological feature of the multiple myeloma. Methods The serum of 117 cases were detected by serum protein electrophoresis and immunofixation electrophoresis;and analyzed quantitatively immune globulin(IgG、IgA、IgM) ,total protein and albumin. Results Monoclone protein peak was found in 67 patients out of 117 patients tested(57.3%) ,it located mainly at γ border. Immunoglobulin G was found in 62 patients out of 117 patients tested(53.0%). Immunoglobulin A was 19 cases(16.3%) ,Immunoglobulin M was 12 cases(10. 1%) ,DL was 2 cases(1.7%) ,free light chain was 22 cases(18.8%). Homotypic immunoglobulin level increased notably and non-correspond constituent was low in immunoglobulin test. The protein quantified displayed that total protein increased and albumin decreased in different level. Conclusion The seroimmunological index played a crucial role in diagnois,clinical stage and prognosis of MM.

9.
Chinese Journal of Nephrology ; (12): 409-415, 2010.
Article in Chinese | WPRIM | ID: wpr-383670

ABSTRACT

Objective To investigate the prevalence of chronic kidney disease (CKD)and risk factors in the adult population of Tianshan district in Urumqi, Xinjiang. Methods A total of 2131 residents from 4 communities in Tianshan district of Urumqi city were randomly selected using a stratified, multistage sampling. All the residents were interviewed and tested for morning spot urine of albumin to creatinine ratio (ACR) (abnormal ≥ 30 mg/g), morning spot urine dipstick of hematuria ( abnormal >3 red blood cells/HP or greater) and pyuria ( abnormal> 5 white blood cells/HP) confirmed by microscopy. Renal function was determined with abbreviated MDRD equation [reduced estimated glomerular filtration rate (eGFR)<60 ml ·min-1 ·(1.73 m2)-1]. The associations of kidney damage indicators with age, gender, hypertension, diabetes mellitus, income,education, cholesterol, triglyceride and smoking were examined. Results Eligible data of 2131 subjects were collected in the study. After the adjustment of age and gender component, the prevalence of albuminuria was found in 2.63% (95%CI:1.78%-3.48%) of subjects, hematuria in 7.43%(95%CI:6.11%-8.75%) and reduced renal function in 1.72%(95%CI:1.08%-2.35%).Approximately 9.99%(95%CI:8.47%-11.55%) of subjects had at least one indicator of kidney damage. Multivariate logistic regression revealed that albuminuria, hematuria, age and hyperuricemia were independently associated with reduced renal function. Hematuria and reduced renal function were independently associated with albuminuria. Albuminuria, reduced renal function and female were independently associated with hematuria. Conclusion In urban adult population over 35 years old of Urumqi, a big city in western China, the prevalence of CKD is 9.99%, the recognition is 2.44% and the risk factors of CKD are similar to those of other domestic big cities and western developed countries.

10.
Clinical Medicine of China ; (12): 121-123, 2009.
Article in Chinese | WPRIM | ID: wpr-396443

ABSTRACT

Objective To explore the relationship among genetic polymorphism of angiotension Ⅱ type 1 re-ceptor(AT1 R) A1166-C, angiotensin converting enzyme (ACE) insertion/deletion (I/D), aldosterone synthase (CYP11B2)-344T/C and hypertensive disorder complicating pregnancy.Methods Polymerase chain reaction-re-striction fragment length polymorphism (PCR-RFLP) assay was used to detect the genotypes of AT1 R A1166-C ,ACE (I/O) ,CYP11B2 -344T/C in 86 cases of hypertensive disorder complicating pregnancy and 175 cases of normal control.Results There was 18 combined types in hypertensive disorder complicating pregnancy cases and normal control cases.Compared to AT1R-AA + ACE-Ⅱ + CYP11B2-TT, Odds ratios (OR) of AT1R-AA + ACE-DO +CYP11B2-TC,AT1 R-AC + ACE-ID+CYP11B2-TC and AT1R-AC+ACE-DD+CYP11B2-TC are 7.289,5.315 and 5.694 respectively.There was no statistical significance among the others.Conclusion In all 18 kinds of combined types, AT1 R-AA + ACE-DO + CYP11B2-TC,AT1R-AC+ACE-ID+CYP11B2-TC and AT1 R-AC + ACE-DD +CYP11B2-TC might increase the susceptibility of hypertensive disorder complicating pregnancy.It is possible that multigenes are interacted in the etiology of hypertensive disorder complicating pregnancy.

11.
Article in Chinese | WPRIM | ID: wpr-585472

ABSTRACT

Objective To study the epidemic characters and tendency of HIV/AIDS (Human immunodeficiency virus/ Acquired immunodeficiency syndrome) from serologic check results.Methods 36 021 specimens of suspected clinical cases and routine cases before surgery in Xinjiang Urumqi Uiger Municipal People's Hospital were detected from 2001—2004. At first, these cases werescreened by ELISA(Enzyme-linked immunoadsordent assay) , then ascertained by desease-control center and AIDS surveillance systems through WB , HIV RNA were estimated by the application of RT-PCR , CD cell were counted with flow cytometry.Result Prevalence figures have risen sharply from 1999—2001 and increased steadily since 2002 , the positive rates of anti-HIV were 0.714%(259 cases) . 38 percents cases were female (97/259), female ratio had the increasing trend and 3 cases were found as intrauterine infection . 80% cases were adolescent(16 year old to 35 year old) , 85.6% cases were Uiger minority , 94% and 67.7% cases were drug abuse through vein and non-occupation respectively.83.3% and 8.69% cases were found in north and south of Xinjiang respectively.The positive rates of virus nucleic acid were 50% , in which 76%(19/25) were 104~105 cop/ml. CD4,CD8,CD4/CD8 were all abnormal,CD4/CD8 ratio decreased to 96%,The number of CD4 cells was remarkably reduced 56%; while CD8 cells was significantly rised 60%;Inpatients increased gradually. Among them , 80% cases were dead due to infection , 16.7% surgical cases were fracture spontaneously.Conclusion The serologic detection of anti- HIV , HIV RNA , CD cell counts had confirmed AIDS episode later ; The progress was more rapidly;infectious rate of female was increased and followed intrauterine infection in Xinjiang.The numbers of episode and death were in growth stage , antivirus therapy were imperative.

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