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.

The antigen of hemorrhagic fever with renal syndrome (HFRS) virus in the infected suckling mouse brains was purified by a combined method—Protamin sulfate sedimentation and sucrose cushion uhracentrifugation. The Purified antigen was labeled with horseradish peroxidase (HRP). A kind of IgM antibody capture ELISA that used HRP—labeled antigen of HFRS Virus, i.e, direct ELISA, was successfully established for the detection of specific IgM antibody in sera from patients with HFRS. Compared with IgM antibody capture ELISA that used HRP—labeled IgG antibody to HFRS virus ,direct ELISA was similar in sensitivity to it,but direct ELISA could completely avoid the interference caused by rheumatoid factor (RF) as well as could reduce one step immune reaction. 87 serum samples from patients with HFRS(diagnosed clinically) in various stages, including 37 from Patients with HFRS in early stage(from 1 to 5 days after the onset of HFRS)were detected by direct ELISA . The positive rates of specific IgM antibody were 96.5% and 91.8%, respectively. We think that direct ELISA that uses HRP—labeled antigen provides a more specific,simpler and faster method for early di—agnosis of HFRS.

Objective To explore the differences among CT angiography(CTA) at different doses in both lower extremity arteries,and the relationship among volume rendering(VR) image quality,CT number and standard deviation(SD) value.Method CTA in lower extremity artery was performed in 90 patients.The participants were randomly divided into three groups,including a routine group (120 kV,150 mAs),120 kV and 80 mAs group,and 100 kV and 130 mAs group with 30 cases in each group.The images were processed with VR and classified into three degrees,the first class,the second class and the third class,and VR image quality levels of three groups were compared.The receiver operating characteristic curve(ROC) was used to analyze the correlation among VR image quality level,CT number and SD value.Results The percentage of VR image level at the first class was 93.3％ in the routine group,86.6％ in the 120 kV and 80 mAs group and 96.6％ in the 100 kV and 130 mAs group.According to the correlation analysis between the SD value and VR image quality of CTA in lower extremity artery,the area under curve in ROC analysis was 0.9078.According to the correlation analysis between the CT number and VR image quality of CTA in lower extremity artery,the area under curve in ROC analysis was 0.9116.Conclusions The low-dose CAT in lower extremity artery is feasible.Application of 100 kV and 130 mAs could ensure better image quality.

Objective To explore the feasibility of low-dose multi-slice computed tomography(MSCT) scan on pulmonary artery three-dimensional angiography, and the relationship between pulmonary VR image quality and the SD value of plain scan. Methods Pulmonary artery CT examination was performed in 87 patients. 63 volunteers were administered with low dose as a low-dose group, and the other 24 were scanned with conventional dose as a routine group. Both plain scans were use conventional dose of pulmonary scan with 150 mAs, and the low-dose pulmonary enhanced scans were used with 60 mAs. The images were post-processed with volume rendering(VR) and classified into three grades A, B and C, and VR image quality levels of both groups compared. The receiver operating characteristic curve( ROC) was used to analyze the relationship between VR image quality level and SD value of plain scan image SD value. Results The VR image level of A-class was 100% in the conventional dose group, and 85. 7% was in the low dose group . According to the correlation analysis between the standard deviation(SD) value of plain scan image and pulmonary artery VR image quality, the area under curve in receiver-operated characteristic analysis was 0. 906. Conclusions The low-dose scan of pulmonary artery three-dimensional angiography is feasible. Using 60 mAs low-dose in pulmonary artery enhanced scan could ensure better image quality. With the SD value of the plain scan decreased, the pulmonary artery VR image quality is improved.

Objective To assess the feasibility of computed tomography angiography (CTA) in renal artery using the iterative reconstruction technique (iDose4) in Brilliance iCT (Philips Ltd.).Methods 90 patients (body weight 60-70 kg) supposed to undergo renal artery CTA were selected and randomly divided into three groups:A(120 kV,120 mAs),B(120 kV,60 mAs) and C(100 kV,100 mAs).CTA images from Group A were obtained using filtered back projection and those from the rest groups were generated by iDose4.Then CT number of renal artery,noise (denoted as standard deviation SD),signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) of images for each group were measured and recorded.Images were post-processed using volume reformation (VR) 3D imaging and image quality were assessed in five-level grade (1-5).Results The five parameters (CT number of renal artery,SD value,SNR,CNR and VR grade) of group A and group B were statistically insignificant (P ＞ 0.05).While SD values of group C were comparable to those of group A and B,the rest four parameters of group C were apparently larger,which was statistically significant (tCT value =-12.326,tSNR =-7.136,tCNR =-7.649,ZVR =-2.690,PVR ＜ 0.05).Conclusions Image quality could still fit the diagnosis requirements using iDose4 when mAs decreased lower than 50％.The image quality increases when radiation dose is halved at 100 kVp kV.

Objective To study the morphological characteristics of craniofacial contour in ageing.Methods Craniofacial morphology was examined in a sample of 20 young men and 20 old men.By multi-slice helical CT,a computer reconstruction technique was used to produce three dimensional images and 3-D reconstruction data were analyzed quantitatively.Results Compared with the young men,old men increased with midface(Zy-Zy),lower face(Go-Go),supraorbital projection(Fb-Sr,T-So),midface depth (N-Po),and lower facial depth(T-Gn),and decreased with maxillary height(N-Sd) and upper facial width(Ft-Ft,T-T).Conclusion Facial width and depth and supraorbital projection tend to be increased and facial height decreased with ageing.

Objective To explore the feasibility and reasonable of low-dose scan on abdominal angiography in 64-slice spiral helical CT. Methods Phantom test: at 120 KV and from 200 mAs to 30 mAs at an interval of 10 mAs in each image acquisition, it was measured standard deviation (SD) of CT number, high contrast resolution and low contrast resolution, and then analyzed the relationship between the three parameters and the mAs values. Three mAs values were chosen to undertake clinical analysis.Clinical analysis: 90 randomly selected objects with abdominal angiography were divided into three groups,scanning with above three mAs values.Measurement of the SD value at the plain scan images was performed and the enhanced low-dose scan images were used post-processing with three-dimensional volume reconstruction (VR). The VR images were classified into three grades (excellent, moderate, bad) with the blind evaluation of three CT radiologists. The quality-correlation analysis was used between the standard deviation (SD) values of plain scan image and abdominal angiography VR image. Results According to the quality-correlation analysis between the standard deviation (SD) value of plain scan image and abdominal angiography VR image, the area under curve in receiver-operated characteristic (ROC) analysis was 0.921, 0.906 and 0.893 in each three group, respectively. Conclusions The low-dose scan of abdominal angiography is feasible. 80mAs can ensure better image quality. The enhanced scan probably can use 60mAs when the SD value is less than 5.78 in the plain scan; but when the SD value of plain scan is greater than 11.8, the enhanced scan is used best 100 mAs or higher.

Objective To investigate the diagnostic value of EBUS imaging features for metastatic mediastinal/hilar lymph node enlargement in lung cancer.Methods The lung cancer patients with a pathological diagnosis and without preoperative anti-tumor treatment who got the EBUS-TBNA examination from October 2009 to September 2011 were retrospectively analysis.422 lung cancer patients with 683 mediastinal / hilar lymph nodes were enrolled in this study,including 335 males and 87 females; the median age is 61 years old (range 24-82),EBUS lymph node ultrasound image and the final pathological or follow-up results were compared by the statistical analysis.Homogeneity in the lymph node EBUS image feature was defined as:uniform echo in the ultrasound images,cortex existed in the peripheral areas,medulla existed in lymph central with a slightly stronger echo and represent as a small strip.Heterogeneity was defined as: the ultrasound image was defined as uneven echo involved with coagulation necrosis sign,which was the hypoechoic areas without blood flow in the lymph nodes and represent no blood flow in the CDPI mode.The coagulation necrosis was associated with necrosis within the lymph node.In addition,if the CNS region occupied more than 11％ of the entire lymph node in a complete lymph node or just a part of huge lymph nodes in the EBUS imaging window frame,we also regard it as heterogeneity.If a complete lymph node was seen in the EBUS imaging window frame,we measured the longest diameter to the long axis and its vertical maximum diameter to the short axis.If the lymph node was huge and extended the EBUS imaging window frame,we measured the longest diameter in the frame as the long axis of its vertical maximum diameter to be the short axis.As to the EBUS-TBNA negative lymph nodes,we regarded it was malignant lymph node if the diameter of the lymph node increased by 20％ in the patients who did not received any chemotherapy or radiotherapy or the diameter of the lymph node increased or decreased by 20％ in the patients who received any chemotherapy or radiotherapy six month later in the chest enhanced CT scan,otherwise,it was identified as benign lymph node.We used the RECIST 1.1 solid tumors criteria to evaluate the efficacy of the chemotherapy.Results 422 patients were enrolled this study including 93 squamous carcinomas,137 adenocarcinomas,97 small cell lung cancer,42 poorly differentiated non-small cell lung cancer,29 adenosquamous carcinoma and 24 other malignant tumors (including large cell carcinoma,sarcomatoid carcinoma,carcinoid tumors,etc).The sensitivity of the EBUS-TBNA was 93.8％ (396/422).The diagnostic methods and results in the 683 lymph nodes were as the following: 506/683 (74.1％) was confirmed as cancer by the EBUS-TBNA while 177/683 (25.9％) was diagnosed as benign disease.Among these,32/683 (4.7％) was confirmed as cancer and 57/683 (8.3％)was confirmed as benign disease by surgery,9/683 (1.3％) was confirmed as cancer and 79/683 (11.6％) was confirmed as benign disease by the method of follow-up.the sensitivity for the EBUS-TBNA to be malignant was 506/547 (92.5 ％),specificity was 136/136 (100％),positive predictive value was 506/506 (100％),negative predictive value was 136/177(76.8％) and accuracy was 642/683 (94.0％).The short axis diameter in the 683 lymph nodes ranged from 0.40cm to 4.60cm with an average diameter of (1.58 ± 0.68) cm.Among them,the short axis diameter in the malignant lymph node was (1.75 ± 0.63) cm,and in the benign lymph nodes was (0.92 ± 0.40) cm.527 lymph nodes presented heterogeneity under the ultrasound imaging,in which,519/527 (98.5 ％)were malignant lymph nodes.While,156 lymph nodes presented homogeneity and 28/156 (17.9％) were malignant lymph nodes (x2 =489.5,P ＜0.01).In the heterogeneous lymph node with a short axis diameter more than 1.0cm,the sensitivity to be malignant was 89.4％,specificity was 100％ and accuracy was 89.6％.In the homogeneous lymph node with a short axis diameter less than 0.8cm,the sensitivity to be benign was 43.8％,specificity was 67.8％ and accuracy was 48.1％.Conclusion EBUS-TBNA is new biopsy method for the mediastinal / hilar lymph node.The classification based on EBUS imaging-based lymph node ultrasound image features was helpful to identify the procedure for the diagnostic purposes and could help to distinguish the benign or malignant mediastinal / hilar lymph node in lung cancer patients.

Objective To evaluate the diagnostic role of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) in the smear and culture negative tuberculosis.Methods The tuberculosis suspected patients with spu-tum-negative for three times and with hilar or mediastinal lymphadenopathy were randomly divided into 2 groups,study group received EBUS-TBNA and bronchoalveolar lavage group(BAL) examination,control group received BAL examination only.Chi-square test was used to compare their diagnostic sensitivity and negative predictive value.Results Totally 82 patients were included this study,40 patients were in control group and 42 in the study group.In the control group,tuberculosis was confumed in only 8 cases by means of bacteriological examination in the BAL fluid,27 were confirmed by the following surgery ordiagnostic treatment of anti-Tuberculosis,and the other 5 cases were diagnosis as other diseases; In the study group,tuberculosis was confirmed in 28 patients through bacteriological and pathological examination,8 were false negative and the other 6 were diagnosis as non-tuberculosis diseases.The diagnostic sensitivity in the study group was significantly higher than that in control group (77.8％ verus 22.9％,x2 =21.4,P ＜ 0.01 ) ; and the negative predictive value in the EBUS-TBNA group was also significantly higher than that in the BAL group (42.9％ VS 15.6％,x2 =3.97,P =0.046).Complications were similar inthese 2 groups,only 1 case of intervention required puncture site bleeding happened in the study group.Conclusion EBUSTBNA has a higher sensitivity and negative predictive value in the diagnosis of smear and culture negative pulmorary tuberculosis patients with hilar or mediastinal lymph nodes.This technique is a safe method with few complications than the traditional BAL examination.It may play an important role in the diagnosis of smear and culture negative tuberculosis patients.

Objective To observe the histological change of different waves in treating SD rats of the long-pulse 1064nm Nd:YAG laser and the 560～1200 nm intense pulse light,in order to provide the theory bases of non-ablative rejuvenation.Methods Two waves were used on experimental mice.The dermic thickness and the expression of collagen typesⅠand Ⅲwere detected by HE stain and immunohistochemical methods. Semiquantitative analysis was used to determine the mean of absorbance.Results Thedermal thicknesses and the mean of absorbance of collagen typesⅠandⅢin two different waves were higher than those in common control groups(P＜0.05).The effect of Nd:YAG laser groups were higher than IPL groups(P＜0.05).The expression of collagen typeⅠwas higher than that of collagen type Ⅲ(P＜0.001).Conclusion After Nd:YAG laser or IPL irradiation,the dermal thickness and collagen typesⅠandⅢof SD rats are increased.The effects of Nd:YAG laser are better than those of 560～1 200 nm IPL.The expression of collagen type Ⅲ is obviously more than that of collagen typeⅠin the early,whereas the expression of collagen typeⅠis obviously more than that of collagen type Ⅲin the later.It proves that the mechanism of dermal remodeling of non-ablative skin rejuvenation is mainly correlation with raising range and time of collagen typeⅠ.