Objective To investigate the relationship between the genotype and phenotype of erythropoietic protoporphyria (EPP) in a family.Methods Venous blood samples were collected from two patients with EPP as well as their asymptomatic parents and grandmother.PCR was performed to assess the mutation of FECH gene,and real-time quantitative PCR to detect the expression of FECH gene.Results A mutation IVS3 + 1G ＞ A was detected in the two patients and their mother.Haplotype analysis showed that both patients with photosensitivity carried the wild-type low-expressed allele IVS3-48C,while their mother,the asymptomatic carrier,harbored the normal allele IVS3-48T.As real-time PCR showed,the expression intensity of FECH gene gradually increased from patients,asymptomatic patients to normal individuals.Conclusion The difference in expression intensity of FECH gene may contribute to the variability in clinical presentation of EPP.

Objective To evaluate the clinical significance of prostatic hypoechoic lesions on transrectal ultrasound(TRUS) for prostate cancer detection Methods 438 patients referred to our hospital between August 1999 and August 2006 for biopsy of the prostate.Every patient received 6～13 biopsy cores of the prostate.If a hypoechoic was identified,the biopsy was taken from this lesion.Correlation between hypoechoic lesions,isoechoic areas and cancer detection for each core was performed.Results Among 438 patients,cancer was detected in 112(25.6%) patients.Hypoechoic lesions were seen in 75(67%)patients with prostate cancer,the isoechoic areas in 37(33%).A total of 3504 biopsy cores were obtained from 438 patients.Among them,636 biopsy cores were taken from hypoechoic lesions.163(25.6%)biopsy cores taken from hypoechoic lesions harbored cancer and 473(74.4%) had no cancer.The cancer detection rate was similar in patients with hypoechoic lesions on TRUS or not,25.4%(75/298)and 26.4%(37/140)respectively.The difference was not statistically significant(P

In order to investigate the influence of interleukin 1?(IL 1?) and tumor necrosis factor ? (TNF ?) on gene expression of rat interstitial collagenase (MMP 13 ) in hepatic stellate cells, cells of a hepatic stellate cell line (HSC T6) were cultured in medium containing IL 1? or TNF ? for different incubation periods. Total RNA of HSC was extracted and MMP 13 gene expression levels were measured by reverse transcription polymerase chain reaction. The results showed that MMP 13 gene expression level of the IL 1? group was much higher than that of the control group at 8h, 24h and 48h after exposure to IL 1?. The maximal value was 3 fold of the control group and was at 24h . MMP 13 gene expression level of the TNF ? group was also significantly higher than that of control group at 8h, 24h, 48h, 72h, and the maximum nalue was 4 fold of the control group at 48h. These results indicated that IL 1? and TNF ? might increase the gene expression of MMP 13 in hepatic stellate cells.

Objective To evaluate the agreement between contrast-enhanced ultrasound imaging and histopathology in rabbit model of abdominal aortic atherosclerosis (AS)in early and development period.Methods Twenty-four healthy Japanese white rabbits were randomly divided into three groups:control group,hypercholesterolemic diet group for 8 weeks and 16 weeks (each for 8 rabbits).Contrast-enhanced ultrasonography for abdominal aorta was performed using sonicated perfluorocarbon albumin contrast agent.Imaging characteristics of abdominal aorta plaque of rabbits were monitored by two-dimensional mode,ultrasound visual grades were analyzed quantitatively before and after injection of contrast agent.Histopathologic changes were observed by HE staining.Results Contrast-enhanced ultrasound imaging allowed early detection of AS and showed gradual progression of atherosclerosis over time.After contrast agent injected,intimal indentification and plaques checking-out ratio were improved.The ultrasound visual grades were increased after contrast imaging in hypercholesterolemic diet group for 8 weeks [(2.26± 0.27)vs.(1.79 ±0.25)] and 16 weeks [(3.54 ±0.43) vs.(3.20 ±0.25)] (all P＜0.05).The plaque detection rate was improved after contrast-enhanced ultrasound imaging than before angiography in hypercholesterolemic diet group for 8 weeks [77.8％ (7/9) vs.55.6％ (5/9)] and 16 weeks [88.2％ (15/17) vs.70.6％ (12/17)](P ＞ 0.05).The imaging of ultrasound agreed well with pathological examination results.Conclusions Contrast-enhanced ultrasonography can effectively improve intimal and plaque imaging,and increase the detection accuracy of early and progressive pathology.

Objective To evaluate the clinical application of color Doppler ultrasound in monitoring the complications of arterialvenous fistula in elderly patients. Methods The 36 hemodialysis patients over the age of 60 were enrolled, including 27 cases of autologous arteriovenous fistula and 9 cases of artificial vascular graft arteriovenous fistula. The ideal vascular access could not be established in the 9 cases due to their own conditions. Color Doppler ultrasonography was used to test the function of arteriovenous fistula and to observe its complications. Results The arteriovenous fistula in 26 cases (72.2 %) was patent in 36 elderly hemodialysis patients. The 6 cases (22.2 % ) in 27 of autogenous arteriovenous fistula and 4 cases (44.4 % ) in 9 of artificial arteriovenous fistula had complications. Conclusions Ultrasound can clearly show the position, pathway, lumen and blood flow dynamics of the transplanted autologous or artificial blood vessels in arteriovenous fistula so as to evaluate the effects of blood dialysis in elderly patients and to detect the complications for clinical reference.

Objective To evaluate renal hemodynamic changes in hydronephrosis children with no image on intravenous urography by color doppler flow image(CDFI). Methods The resistance indexes(RIs)in main renal arteries(MRAs),interlobar renal arteries(IRAs)and arcuate renal arteries(ARAs)were measured in 48 children with hydronephrosis with no image on intravenous urography.The thickness and area were also measured in hydronephrotic kidneys.Resistive index ration(RIR=hydronephrotic kidneys RI/contralateral RI)was calculated. And pathological changes of kidneys were graded in these cases.Spearman's correlation test was used to compare RIR and pathological grades in these kidneys. Results In healthy and hydronephrotic kidneys,the relevant parameters were as fol1.13±0.14,1.14±0.09,respectively in MRAs,IRAs,ARAs in hydronephrotic kidneys(P＞ness,area of hydronephrotic kidneys(P＜0.05),also between RIR and thickness,araa(P＜0.05),MRAs,IRAs,ARAs and pathologic grades(P＜0.05),especially in IRP(s(r=0.795,P＜0.01).Conclusions RIR of IRA could be an ideal parameter of renal hemodynamics to evaluate renal damage in children with congenital hydronephrosis with no image on intravenous urography.

ObjectiveTo observe the clinical characteristics and influential factors of pulmonary hypertension (PH) in maintenance hemodialysis (MHD) patients.MethodsOne hundred and two patients with MHD patients whose therapy time were all more than one year were enrolled from June 2008 to May 2009.Pulmonary arterial systolic pressure (PASP) and parameters related with cardiac structure and function were checked out by echocardiography.These patients were divided into two groups according to PASP:PH group[PASP≥35 mm Hg( 1 mm Hg =0.133 kPa)] and non-PH group(PASP ＜ 35 mm Hg).Gender,age,dialysis time,dialysis access and urine volume during dialysis was recorded.The blood biochemistry,parathyroid hormone(PTH),hemoglobin,postdialysis urea nitrogen was recorded too and Kt/V was calculated.ResultsPH was detocted in 26 MHD patients (25.5％,26/102).Right atrium transverse diameter,right atrium long diameter and pulmonary artery internal diameter in PH group [(32.00 ± 8.13),(41.00 ±9.15),(24.38 ± 3.88) mm] were higher than those in non-PH group [(27.44 ± 4.43),(36.45 ±8.88 ),(21.78 ± 2.46) mm] and LVEF in PH group [(55.59 ± 7.88 )％] was lower than that in non-PH group [(59.09 ± 5.69)％] (P ＜ 0.01 or ＜ 0.05).There were significant differences in calcium-phosphorus product,PTH,serum phosphorus and hemoglobin between PH group and non-PH group [(61.36 ± 17.83)mg2/dl2 vs.(53.24 ± 18.28) mg2/dl2,(365.95 ± 178.65) ng/L vs.(287.02 ±209.91 ) ng/L,(2.24 ±0.60)mmol/L vs.( 1.95 ± 0.68) mmol/L,(98.65 ± 25.69) g/L vs.( 114.29 ± 22.31 ) g/L] (P ＜ 0.05 ).Logistic regression found that PTH levels,hemoglobin and calcium-phosphorus product were the major risk factors for PH.ConclusionsMorbidity of PH in MHD patients is obviously high.Secondary hyperparathyroidism,anemia and high calcium-phosphorus product level may take part in the pathogenesis of PH in MHD patients.

Objective To investigate the nutritional risks, undernutrition, and nutritional support among inpatients in tertiary hospitals in Tianjin using Nutritional Risk Screening 2002 (NRS2002). Methods Inpatients in six departments in two tertiary hospitals in Tianjin (Tianjin Nankai Hospital and Tianjin Chest Hospital ) were consecutively enrolled from March 2005 to March 2006. Their nutritional risks were screened using NRS 2002, and the nutritional support was investigated. Results A total of 1200 inpatients received nutritional screening, and 93.0% of them underwent NRS 2002 scoring. The prevalence of undernutrition was 9. 8% and the prevalence of nutritional risk was 42. 8%. Of these patients, 241 patients (46.4%) with NRS2002≥3 received nutrition support, and 244 patients (35.9%) with NRS2002 ＜3 received nutritional support Conclusions NRS2002 is suitable for nutritional risk screening among inpatients. Inpatients usually have nutritional risks or undernutrition. However, physicians at different levels in different regions have different awareness of such risks or conditions, and the clinical application of nutritional supports sometimes are inappropriate.

Objective To characterize the inheritance of erythropoietic protoporphyria (EPP) by detecting the mutations of ferroehelatase (FECH) gene in a Chinese family with EPP. Methods Peripheral blood samples were obtained from 4 patients and 3 unaffected individuals in a family with EPP, as well as from 50 unrelated healthy human controls. PCR was performed to amplify all the 11 exons and flanking sequence of FECH gene followed by direct sequencing. Results A splicing mutation,I.e., IVS3+1G→A, was identified in the proband as well as his symptomatic sister, cousin, grandfather and asymptomatic mother, but not in his asymptomatic father, grandmother, or unrelated healthy controls. The genotypes IVS1-23 T/C and IVS3-48 C/T were noted in the proband, his father, sister, cousin and grandfather, but absent in his mother or grandmother who carried IVS1-23 C/C and IVS3-48 T/T genotypes. Conclusions A novel splicing mutation is found in the FECH gene in a Chinese EPP family, which, together with two lowly expressed alleles IVS1-23T and IVS3-48C, is likely to be responsible for the clinical phenotype of EPP in this family.

Objective To evaluate the quality of pooled platelets leukocytes reduced after filtering out leukocytes using two man-ufacturers of leucocyte filters for pooled platelets and improving the preparation method.Methods Pooled platelets was prepared from 400 mL fresh whole blood by buffy coats(BC)method,after 1 6 h,(22±2)℃ holding period,pooled six bags of ABO-matched buffy coats.and then filtered with two manufacturers of leucocyte filter,divided into the control group and the experimental group. Before and after filtering,the numbers of platelet and leukocyte,pH,hypotonic shock response(HSR),platelet aggregation and CD62p expression were detected.Results Before filtering leukocytes,the platelet quality of two groups achieved the requirements of Chinese standards.The numbers of platelet and leukocyte,pH,CD62p expression(%)and platelet aggregation showed no signifi-cant difference between two groups(P >0.05).However,After filtering,the pH,platelet aggregation and the platelet recovery,the experimental group and the control group,were (6.53±0.60)vs(7.00±0.06)、(5.5±3.8)% vs (77.4±14.7)%,(86.8±4.3)%vs (90.6±2.7)%,showed significant differences (P <0.05);but the residual leukocytes,HSR and CD62p expression respectively were (3.00±4.00)×10 6/ bag vs (2.00±3.00)×10 6/ bag,(2.40±0.90)% vs (2.00±0.80)%,(7.30±5.90)% vs (5.60 ±3. 70)%,there were no significant differences(P >0.05).Conclusion The quality of pooled platelets leukocytes is reduced,after filte-ring out leukocytes with two manufacturers of leucocyte filters and improving the preparation method,achieves the requirements of Chinese standards.However,the leukocyte filters of experimental group might have influence on platelet aggregation and pH.