Objective To investigate the underlying mutation in a late-onset Chinese patient with classic Bartter syndrome. Methods The mutation analysis of CLCNKB gene was performed by the PCR direct sequencing. The patient's parents and siblings were studied as well. Fifty normal volunteers were analyzed as control group. Results The heterozygous deletion mutation cDNA 753delG and heterozygous missense mutation G433E were detected in the patient. Her father was found to carry heterozygous G433E and her mother to carry cDNA 753delG mutation respectively. Her brother carried heterozygous G433E and her sister was normal. Conclusions Two mutations of the CLCNKB gene in this Chinese patient with late-onset classic Bartter syndrome are identified. The cDNA 753delG mutation has not been reported previously.

Objective To investigate the effect of simple vertebral canal decompression for treating degree 1 senile degenerative lumbar spondylolisthesis .Methods 62 cases of degree 1 senile degenerative lumbar spondylolisthesis from January 1998 to January 2012 were retrospectively analyzed .The patients were surgically treated by simple vertebral canal decompression and included 20 males and 42 females ,aged from 65-82 years(mean 68 years) ,with the disease history of 2-7 years(average 3 .3 years) .The clini-cal effects in average postoperative 2 years and 8 .2 years were evaluated by Japanese Orthopaedic Association Scores (JOA ) and Visual Analogue Scale/Score(VAS) .Results The preoperative JOA score was 9 .7 in average and the JOA scores in average post-operative 2 years and 8 .2 years were 11 .7 and 12 .8 respectively(P<0 .05);the preoperative VAS score averaged 7 .8 ,which after operation were 2 .3 and 2 .6 respectively(P<0 .05) .Complications were observed in 16 cases .4 cases accepted reoperation .Conclu-sion In the basis of the actively controlling other organ systems diseases in perioperative period ,simple vertebral canal decompression is an effective method for treating degenerative vertebral canal spondylolisthesis and can obtain the satisfactory therapeutic effect .

Objective To evaluate the functional magnetic resonance (MR) imaging in the assessment of renal involvement and pathological changes in patients with lupus nephritis (LN).Methods Seventeen patients with LN and 10 healthy controls underwent coronal echo-planar diffusion-weighted (DW) MR imaging and blood oxygen level dependent (BOLD) MR imaging of the kidneys with a single breath-hold time of 16 s.The apparent diffusion coefficient (ADC) and R2* value of the kidneys were calculated with high b values (b=500 s/mm2).The correlation between the renal injury variables and the ADCs or R2* values was evaluated.Results The mean ADC value of kidneys in patients with LN was (2.43+0.24)×10-3 mm2/s,the mean R2* values of the renal cortex and medulla were (11.72+2.35)/s and (13.07+2.35)/s respectively,which were all significantly lower than those in volunteers (P=0.045,P=0.048and P=0.001,respectively).In the patients with LN,the mean ADC values were positively correlated with estimated glomerular filtration rate (eGFR) (r=0.558,P＜0.05).There was a negative correlation between the ADC values of the right kidneys and pathological chronic indexes (r=-0.493,P＜0.05).Moreover,the R2*values of the renal medulla were negatively correlated with 24 hours proteinuria,serum creatinine,pathological active indexes.The patients were assigned to group A (class Ⅲ,Ⅳ,Ⅴ,n=8) and group B class Ⅴ + Ⅲ and Ⅴ + Ⅳ,n=9).The tubulointerstitial lesions in group B were more severe than those in group A,while the mean ADC values and R2* values of the renal cortex in group B were lower as compared to group A.Conclusion DW MR imaging and BOLD MR imaging may be used to non-invasively monitor the disease activity and evaluate the efficacy in lupus nephritis.

Objective To identify the clinical characteristics and pathological changes of patients suffered from glomerulonephritis complicating with acute interstitial nephritis (AIN) . Methods Twenty one patients of glomerulonephritis complicating with AIN diagnosed by renal biopsy were retrospectively analyzed . Thirty-five pure AIN patients were selected as controls .Results Glomerulonephritis complicating AIN accounted for 37 .5% of all the AIN cases . Βlactam antibiotics and Chinese herbs were the major causes of AIN . 76 .2% of cases received further examinations due to the elevation of serum creatinine (Scr) during their follow-up of kidney injuries or during routine exams for all kinds of discomforts . Pathological features of AIN were also detected besides glomerular leisions . The impairments of renal interstitia were severe than those of the glomeruli . Eosinophil in the renal interstitia was an important indicator for the diagnosis of AIN .The renal function returned to normal or baseline in 64 .7% of the patients of glomerulonephritis complicating with AIN whose follow-up data were available . The median period for renal function restoration was 150 days (compared with 60 days in pure AIN) . But there were no significant differences between these two groups as for the rate of irreversible renal insufficiency during a follow-up period of 2 years . Conclusions Symptoms of AIN in patients of glomerulonephritis complicating with AIN tend to be masked by their glomerular diseases . Renal biopsy is of most importance for the diagnosis . Early diagnosis and treatment leads to satisfactory prognosis .

Objective To investigate the effects of tg19320,a small peptide,interfering with IgG-FcγR interaction on the adhesion of neutrophils to endothelium and the expression of intercellular adhesion molecule 1 (ICAM-1)in endothelial cells and its possible mechanism.Methods Tg19320 was prepared by solid-phase peptide synthesis.ANCA IgG was isolated from the serum of active ANCA-associated systemic vasculitis(AASV)patients.When primary human umbilical vein endothelial cells(HUVEC)grew into connuence in cytokine-free eonditions,the cells were stimulated with TNF-α,human normal IgG,ANCA IgG and ANCA IgG+tg19320 respectively.HUVEC were pretreated with tg19320 for 45 minutes before being stimulated by ANCA IgG.Non-activated neutrophils was added to treat HUVEC and adhesion was measured by cell count.The expression of ICAM-1 mRNA and protein was assessed by real-time PCR and Western blot respectively.Soluble ICAM-1(sICAM-1)was determined using ELISA technique.Phosphorylation of IκB-α was assessed by Western blot. Results ANCA IgG significantly up-regulated the expression of ICAM-1 in HUVEC and promoted sICAM-1 release(P＜0.05),and TNF-α enhanced the effect of ANCA.These effects were almost completely abolished by tgl9320 both at protein and mRNA level.Furthermore,ANCA IgG increased the IκB-α phosporylation in HUVEC and tg19320could inhibit the effect. Conclusions ANCA IgG can modulate the expression of ICAM-1 and sICAM-1 release in endothelial cells.FcγR probably play a critical role in the ICAM-1 expression up-regulated by ANCA,which is mediated in part through NF-κB signaling pathway.Tg19320 has protective effect on endothelium in AASV in vitro.

Objective To identify the correlation between hypergnmmaglobulinemia (hyper-IgG) and renal involvement in patients with primary Sjogren's syndrome (Pss). Methods The data of all patients admitted to hospital with the diagnosis of Pss were retrospectively analyzed. One way ANOVA and Speannan's correlation analysis were used to compare the clinical characteristics, renal injuries, immunology tests and renal pathological changes between patients with or without hyper-lgG. Results One hundred and thirty Pss cases were enrolled including 8 males and 122 females. Their age ranged from 16 to 68 years with an average of (44±12) years. Forty-one patients with Pss underwent renal biopsy. The preys lenee of Drta and tubular protein was significantly higher in patients with hyper-IgG than those without(P<0.05). Spearman's correlation analysis showed a negative correlation between serum IgG levels and seral potassium level(r=-0.269,P<0.01).Protein electrophoresis results revealed predominantly tubular protein in the hyper-lgG group, on the other hand glomerular protein was found in the normal-IgG group (P<0.05). The occurrence of decreased C4 com-plement concentration was significantly higher in normal-lgG group (P<0.05); Spearman's correlation analysis for biopsied materials showed that there was no significant difference in the Tubular Index (TI) and Glomeru-lar Index(GI) between these two groups. Conclusion Tubular lesions, especially Drta, may be predominant and correlate with hypergammaglobulinemia. There is a correlation between hypergammaglo-bulinemia and the level of renal lesions. Renal acidification capacity in patients with hypergammaglobulinemia should be evaluated.

Objective To investigate the clinical features and the effect of gender differences on phenotype of Giteiman syndrome (GS) patients. Methods Clinical features and biochemical parameters were compared and analyzed to look for correlation between male and female GS patients. Results More male patients suffered from nocturia than female patients (P < 0.05), and there were no statistical differences in other clinical features between males and females. The level of serum creatinine was higher in male patients than that in female ones [(82.7±43.3) μmol/L vs (58.7±12.7) μmol/L], but estimated glomerular filtration rate was male patients and female patients. The urinary potassium and chloride excretion fraction were higher in male group than those in female group (33.0%±22.9% vs 17.0%±4.7%;2.30%±1.59% vs 1.23%±0.39%, P< 0.05, respectively). Statistical differences were not observed in other laberatory parameters. Three patients with impaired renal function were all male. Conclusions More male patients suffer from nocturia than female patients. Male patients seem to be prone to impaired renal function. It is speculated that different density of sodium-chloride cotransporter in renal tubule may account for gender differences.

Objective The interaction between anti-neutrophil cytoplasmic antibaties (ANCA) and receptors at the Fc portion of immunoglobulins (FeγR) is central in the pathogenisis of primary systemic small vasculitis. The aim of this study is to investigate the role and clinical value of ANCA on the expression of neutrophils FCγRⅡ/Ⅲ (CD32/CD16). Methods ANCA IgG was prepared from the sera of patients with active We-gener's granulomatosis (WG) and microscopic polyangiitis (MPA). Neutrophils were isolated from the blood of healthy volunteers. The expression of CD32/CD16 on neutrophils was assessed by flow cytometry after stimulated by ANCA for 1 hour. We compared the expression of CD32/CD16 between 18 primary systemic small vaseulitis (PSV) patients and 35 healthy volunteers. Furthermore, the correlation was also be analyzed between the expression of CD32/CD16 and Birmingham vasculitis activity score (BVAS). Results The expression of CD16 was significandy elevated by ANCA (Mnx 67±23 vs 54±21, P<0.01 ). The expression of CD16 was higher in patients than in healthy volunteers (Mnx 62±12 vs 53±10, P<0.01), which was in correlation with BVAS (r=0.728 86, P<0.01). But no such correlation was found for CD32 . Conclusion ANCA may play a role in the pathogenesis of PSV by modulating the expression of the FCγR. Monitoring the expression of CD16 on neutrophils is helpful for the evaluation of PSV activity.

Objective: To quantitatively compare five occupational health risk assessment models in assessing silica dust hazard risk in small open pits, so as to provide the reference for the research of occupational health risk assessment methodology Methods : Seven small open pits were selected as the evaluation sites. The models from Singapore, the United Kingdom's Control of Substances Hazardous to Health Essentials ( COSHH Essentials ), Australia, Romania, and the International Council on Mining and Metals ( ICMM ) were applied to assessing the occupational health risk of the workers exposed to silica dust. The risk ratios ( RRs ) were calculated, and the parallelism, accuracy and correlation of the evaluation results of the five models were compared. Results : The RRs of the Singaporean model, COSHH model, Romanian model, Australian model and ICMM model were 0.8, 1.0, 0.4, 0.6 and 0.8, respectively. The Singaporean model and the Australian model were able to distinguish transport drivers from sprinkler drivers in the health risk exposed to silica dust, which was consistent with the actual risk of the two posts. Except for COSHH model, the RRs of the other four models were positively correlated ( P<0.05 ); the RRs were all positively correlated with concentration ratios ( CRs ) ( P<0.05 ), and the correlation coefficient between RRs and CRs of the Singaporean model was the largest (0.801). Conclusion Among the five models, the Singaporean model can more accurately evaluate the hazard risk of silica dust in posts of open pits, and has a good correlation with the other models.

Objective To investigate the mutations ACTN4 and SYNPO genes promoter in sporadic primary focal segmental glomerulosclerosis (FSGS) and to analyze the role of mutations in FSGS. Methods The study consisted of 82 Chinese primary FSGS, including 39 females and 43 males, ranged from 12 to 76 years old. Seventy volunteers were selected as healthy control group. Genomie DNA was extracted from peripheral blood cells of FSGS patients and hair of patients' parents by polymerase chain reaction (PCR) and direct sequencing to analyze ACTN4 and SYNPO gene promoter mutations. Mutations were matched with GenBank and TRANSFAC software database (www.ncbi.nlm.nih.gov; www.genometix.de; www.gene-regulation, corn). Dual luciferase assay system was used to analyze the promoter region mutations, based on PGL3-Basie vector, pRL-SV40 and PCI2 cell line. Hair DNA of novel mutation patients' parents was sequenced. Expression of alpha-actinin-4 and synaptopodin in patients' kidney tissue was examined by immunofluorescence. Results Three patients with 1-34C>T, 1-590delA and (1-1044delT)+ (I-797T >C) +(1-769A >G) heterozygous mutations were found in ACTN4 gene promoter respectively, and two patients with 1-24G>A and 1-851C>T heterozygous mutations in SYNPO gene promoter respectively. The same mutations were not found in the control group of 70 healthy people. Except one patient accepting her parents' 1-1044delT and 1-797T>C mutated chromosome respectively, no same mutations were found in patients' parents. Protein expression of alpha-actinin-4 and synaptopodin was reduced in mutated patients' kidneys. Except 1-1044delT group, luciferase activity in mutated groups decreased. (1-1044delT)+(1-797T>C)+(1-769A>G) mutation was associated with poor outcome and patient with these mutations progressed to end-stage renal failure. Conclusion Mutations of ACTN4 and SYNPO gene promoters affect gene transcription and protein translation, which may contribute to the onset of sporadic primary FSGS.