Objective To explore the correlation between phenotypes in female with X-linked Alport syndrome(XLAS) and X-inactivation of different tissues.Methods Thirty-six female diagnosed as XLAS were studied,and proteinuria was taken as a marker of the severity of clinical phenotypes.X-inactivation patterns were analyzed in peripheral blood cells of 36 XLAS female and in skin fibroblasts of 12 XLAS female.The X-inactivation analysis was performed by using Hpa Ⅱ predigestion of DNA followed by polymerase chain reaction(PCR) of the highly polymorphic CAG repeat of the androgen receptor gene.Results The average X-inactivation levels of the mutant allele decreased while the degree of proteinuria increased,so there was a negative correlation between the degree of proteinuria and the X-inactivation ratios of the mutant allele in blood cells(r=-0.543,P=0.002).However,there was no correlation between the degree of proteinuria and the X-inactivation ratios of the mutant allele in skin fibroblasts(r=-0.131,P=0.701).Conclusions X-inactivation ratios might explain partially the diverse phenotypes in XLAS female patients,which suggested that the prognosis of XLAS female might be predicted via analysis of the X-inactivation in peripheral blood cells.

Integrative Medicine ; Medicine, Chinese Traditional

Humans ; Molecular Biology ; Nephrotic Syndrome ; genetics

Collagen Type IV ; genetics ; Female ; Fetal Development ; Humans ; Nephritis, Hereditary ; diagnosis ; genetics ; Pregnancy ; Prenatal Diagnosis ; methods

Objective:To investigate the effect of Aspirin on the proliferation and NOS expression in astrocytoma cell line,and probe into ins mechanism.Methods:The effect of Aspirin on the growth of astrocytoma cells evaluated by MTT assay;NOS protein levels were determined by immunohistochemistry,NO and CEA concentration in the medium were determined by Griess assay and lepton catch immuning method respectively.Results:Aspirin can inhibit the growth of astrocytoma cells,induce the expression of iNOS,increase the concentration of NO in the medium. The effect of these were in a concentration dependent pattern. Moreover,Aspirin can reduce the concentration of CEA in the medium.Conclusion:Aspirin inhibit the growth of astrocytoma cell line.UP regulated iNOS expression resulting a increase of NO concentration are ascribed to mechanism of antrproliferation activity of Aspirin. CEA is a good indicator in monitoring curative effect of astrocytoma.

Objective To investigate the causes of a healthcare-associated lower respiratory tract infection(HA-LRTI) outbreak due to Enterobacter cloacae(E.cloacae), and provide basis for clinical prevention and control of HAI.Methods Epidemiological data of patients with E.cloacae HA-LRTI following bronchoalveolar lavage(BAL) in the departments of respiratory disease and thoracic surgery of a hospital were collected, antimicrobial resistance analysis on isolated pathogens from patients and environment was performed, pulsed-field gel electrophoresis (PFGE) was used for genotyping.Results On March 8-16, 2013, a total of 15 patients underwent BAL in the fiberobronchoscopy room in the departments of respiratory disease and thoracic surgery of a hospital, 13 of whom developed E.cloacae LRTI, 4 cases were community-associated infection (the initial case was included), the other 9 cases were HAI;8 environmental specimens were detected 2 strains of E.cloacae, the strains were from vacuum suction joint of fiberbronchoscope and scissors used for trimming disposable controllable sputum suction pipeline.15 strains of E.cloacae from environment and patients were screened by antimicrobial susceptibility testing, 11 strains were with similar antimicrobial susceptibility testing result, 2 of which were environmental strains, 6 were from inpatients, and 3 were from patients in community.PFGE typing of 11 strains revealed that there were 8 strains with the same genotype, 6 of which were from patients in department of thoracic surgery, 2 were from vacuum suction joint of fiberbronchoscope and scissors used for disposable controllable sputum suction pipeline;the other 3 strains were of the same genotype, and from departments of respiratory disease and thoracic surgery.Conclusion This outbreak is due to contamination of bronchofibroscope by the same E.cloacae strain, the strain is susceptible to the clinic commonly used antimicrobial agents, such events should be paid attention in clinic, the key to control infection is to take necessary measures for cutting off the spread of the epidemic.

Objective To investigate the effect of carbon monoxide(CO) on hydrogen sulfide(H_2S)/cystathionine-?-lyase system(CSE) in vascular smooth muscle cells(VSMC) of spontaneous hypertensive rats(SHR).Methods The SHR VSMC were divided into 2 groups:experimental group(hemin was added to the culture media at a concentration of 10 ?mol/L)and control group (dimethyl sulfoxide was added to the culture media at an equal volume).The content of H_2S in the cultrue media was measured by sulfide electrode method,and the CSEmRNA level was assayed by competitive reversed transcription-polymerase chain reaction(RT-PCR).Results Compared with control group,the content of H_2S in the culture media of hemin-treated SMCs was significantly lower[(16.03? 2.14) ?mol/L vs (13.31?1.74)?mol/L],and the CSEmRNA level in hemin-treated SMCs was decreased markedly(0.17?0.04 vs 0.13?0.03).Conclusion CO can down-regulate the H_2S/CSE system in SMC of SHR.

Objective To investigate the effect of nitric oxide on hydrogen sulfide/ cystathionine-?-lyase(CSE) system in the vascular smooth muscle cells of spontaneously hypertensive rats(SHR).Methods The SHR aortic smooth muscle cells(SMCs) were divided into 2 groups: sodium nitroprusside(SNP) group and control group.The content of hydrogen sulfide in the culture media was measured by sulfide electrode method,and the CSE mRNA level was assayed by competitive reversed transcription-polymerase chain reaction((RT-PCR)).Results Compared with control group,the content of hydrogen sulfide in the culture media of SNP group was significantly higher [(16.16?3.71) ?mol/L vs(22.71?4.84) ?mol/L],and the CSE mRNA level in SMCs in SNP group was lower than that of control group.Conclusion Nitric oxide exerted complicated effect on the hydrogen sulfide/CSE system in the SHR smooth muscle cells.J Appl Clin Pediatr,2006,21(3):140-141

The efficacy and safety of uric-acid-lowering therapy (UALT) on slowing the progression of chronic kidney disease (CKD) accompanied by hyperuricemia were assessed. We searched Cochrane Library, PubMed, EMbase, CNKI, Wanfang and Vip databases up to November 15, 2012 for randomized controlled trials (RCTs) which compared the effect of UALT to control therapy in hyperuricemic patients secondary to CKD, and then performed quality evaluation and meta-analysis on the included studies. Seven RCTs involving 451 cases were included. UALT delayed the increase of serum creatinine (MD=-62.55 μmol/L, 95% CI: -98.10 to -26.99) and blood urea nitrogen (MD= -6.15 mmol/L, 95% CI: -8.17 to -4.13) as well as the decrease of glomerular filtration rate [MD=5.65 mL/(min·1.73 m2), 95% CI: 1.88 to 9.41], decreased systolic blood pressure (SBP) (MD= -6.08 mmHg, 95% CI: -11.67 to -0.49), and reduced the risk of the renal disease progression (RR=0.30, 95% CI: 0.19 to 0.46). However, there was no statistically significant difference in 24-h urinary protein quantity and diastolic blood pressure (P>0.05). We identified that UALT could delay the progression of CKD with secondary hyperuricemia. And this also indirectly proved that hyperuricemia was a risk factor for the CKD progression.

ObjectiveTo clarify the clinicopathological features of renal amyloidosis in order to achieve early diagnosis and treatment.MethodsClinicopathological data of 26 biopsyproven renal amyloidosis cases in Department of Nephrology,Zhongshan Hospital,Fudan University between2006and2010wereanalyzedretrospectively.Immunohistochemistryand immunofluorescence of amyloid A protein,immunoglobulin light chains such as K、λ were performed on renal specimens for further classification.ResultsAge of 26 patients ranged from 40 to 77 years old,average(58.54±10.07) years.Twenty-two out of 26 patients(84.62％) were treated in local hospital before admitted to our department,and 21 patients(95.45％) were misdiagnosed as chronic primary glomerulonephritis.The prominent clinical manifestations of renal amyloidosis were nephrotic syndrome(17 cases,65.38％),decreased blood pressure(16 cases,61.53％),organ enlargement (8 cases,30.77％) and bodyweight loss (6 cases,23.08％).Fourteen out of 25 patients (56.00％) were found to have monoclonal light chains in serum by immunofixation electrophoresis.Three patients with mild pathological changes who had no confirmable Congo red stain were conffimed by electron microscopy. Twenty-three(88.46％) patients werediagnosed as AL amyloidosis,one(3.85％) as AA amyloidosis,one was strongly suspected of hereditary amyloidosis,and one was undetermined.ConclusionsRenal amyloidosis is frequently misdiagnosed.Middleaged and old nephrotic patients with decreased blood presure,organ enlargement and bodyweight loss may be the most helpful clues of the disease.Most patients have monoclonal light chains in serum or urine.Renal biopsy,especially electronic microscopy plays a crucial role in the early diagnosis of renal amyloidosis.Immunohistochemistry is important for patients with renal amyloidosis in pathological classification and treatment.