To investigate the distribution of possible novel mutations from parkin gene in variant subset of patients with Parkinson's disease (PD) in China and explore whether parkin gene plays an important role in the pathogenesis of PD, 70 patients were divided into early-onset group and late-onset group; 70 healthy subjects were included as controls. Genomic DNA from 70 normal controls and from those of PD patients were extracted from peripheral blood leukocytes by using standard procedures. Mutations of parkin gene (exon 1-12) in all the subjects were screened by PCR-single strand conformation polymorphism (SSCP), and further sequencing was performed in the samples with abnormal SSCP results, in order to confirm the mutation and its location. A new missense mutation Gly284Arg in a patient and 3 abnormal bands in SSCP electrophoresis from samples of another 3 patients were found. All the DNA variants were sourced from the samples of the patients with early-onset PD. It was concluded that Parkin point mutation also partially contributes to the development of early-onset Parkinson's disease in Chinese.
DNA Mutational Analysis ; Exons ; Genotype ; Parkinson Disease/*genetics ; *Point Mutation ; Polymorphism, Single-Stranded Conformational ; Ubiquitin-Protein Ligases/biosynthesis ; Ubiquitin-Protein Ligases/*genetics

ObjectiveTo investigate the feasibility of decreasing radiation dose and contrast media dose of abdominal CTA using low tube voltage setting combined with personalized contrast media application.MethodsOne hundred and twenty patients were randomly divided into 3 groups,and there were 40 patients in each group.120 kV tube voltage was used in group A,and 100 kV tube voltage was used in group B and C.Personalized injection flow rate of contrast media which determined according to patient's body mass (injection flow rate =λ × body mass) was used for all groups,and the λ values for group A,B and C were 0.07,0.07 and 0.06 ml · kg-1· s- 1 respectively. CT dose index volume ( CTDIvol ) effective dose(ED) and contrast media dose were evaluated,and these parameters were all analyzed using one-way ANOVA analysis.Image quality of abdominal aorta and branch arteries was rated using a three-point ordinal for all 3 groups,and image quality score was analyzed using Kruskal-Wallis test.ResultsCTDIvol were (8.2±0.8),(6.0 ±1.0) and (6.1 ±1.1)mGy for group A,B and C,ED were (5.2 ±0.8),(3.5 ± 0.7) and ( 3.6 ± 0.6) mSv,and contrast media dose were (72.3 ± 10.3 ),(73.5 ± 11.3 ) and (61.6 ±9.4) ml,respectively.There were significant differences in CTDlvol,ED and contrast media dose among 3 groups ( F =66.094,77.812,15.919 ; P =0.000).Compare with group A,the ED of group B was decreased 32.7％,and the ED and contrast media dose of group C were decreased 30.8％ and 14.8％,respectively.Image quality was rated as excellent,good,and general for 20,19 and 1 patients in group A,25,15 and 0 patients in group B,and 23,17 and 0 patients in group C,respectively.There was no significant difference in image quality score among 3 groups ( x2 =1.492,P =0.474 ).ConclusionsThe radiation dose and contrast media dose can be decreased in abdominal CTA using low tube voltage and personalized contrast media apolication while image quality can be preserved.

Mutations in the parkin gene have recently been identified in familial and isolated patients with early-onset Parkinson disease (PD) and that subregions between exon 2 and 4 of the parkin gene are hot spots of deletive mutations. To study the distribution of deletions in the parkin gene among variant subset patients with PD in China, and to explore the role of parkin gene in the pathogenesis of PD, 63 patients were divided into early onset and later onset groups. Exons 1-12 were amplified by PCR, templated by the genomic DNA of patients, and then the deletion distribution detected by agarose electrophoresis. Four patients were found to be carrier of exon deletions in 63 patients with PD. The location of the deletion was on exon 2 (1 case), exon 3 (2 cases) and exon 4 (1 case). All patients were belong to the group of early onset PD. The results showed that parkin gene deletion on exon 2, exon 3 and exon 4 found in Chinese population contributes partly to early onset PD.
Exons/*genetics ; *Gene Deletion ; Parkinson Disease/*genetics ; Point Mutation ; Ubiquitin-Protein Ligases/*genetics

Diagnostic ultrasound is a useful and noninvasive method in clinical medicine. Although due to its qualitative, subjective and experience-based nature, ultrasound image interpretation can be influenced by image conditions such as scanning frequency and machine settings. In this paper, a novel method is proposed to extract the liver features using the joint features of fractal dimension and the entropies of texture edge co-occurrence matrix based on ultrasound images, which is not sensitive to changes in emission frequency and gain. Then, Fisher linear classifier and support vector machine are employed to test a group of 99 in-vivo liver fibrosis images from 18 patients, as well as other 273 liver images from 18 normal human volunteers.
Algorithms ; Artificial Intelligence ; Fractals ; Humans ; Image Enhancement ; methods ; Image Interpretation, Computer-Assisted ; methods ; Information Storage and Retrieval ; methods ; Liver Cirrhosis ; diagnostic imaging ; Pattern Recognition, Automated ; methods ; Reproducibility of Results ; Sensitivity and Specificity ; Ultrasonography

Objective To investigate the relationship of pathological response of breast cancer after neoadjuvant chemotherapy with the imaging findings in dynamic contrast-enhanced MRI.Methods Forty- five patients with pathologically confirmed breast carcinoma who finished courses of neoadjuvant chemotherapy had breast MRI prior to operation.Dynamic contrast-enhanced MRI scans were performed on a 1.5 T scanner using 3D SPGR sequence before and repeated 6 times after administration of Gd-DTPA. Pathological response was assessed by a pathologist according to Miller & Payne five points classification blinded to breast MRI results.Grade 5 was defined as pCR(pathological complete response).Grade 4 and 5 were defined as major histopathological response(MHR).The type of time signal intensity curve(TIC) (three types),pattern of residual enhancement of each breast cancer were recorded and correlated with pathological findings.Fisher exact test was used for statistical analysis.Results Grade 5 responses were achieved in seven patients;grade 4 in sixteen patients;grade 3 in sixteen patients and grade 1—2 in six patients.70.0%(14/20)of type Ⅰ time signal intensity curve correlated with MHR,while all 6 type Ⅲ curves showed non-MHR response.The type of time signal intensity curve and pathological response grades had statistically significant correlation(P=0.001).18 of the 23 cases with MHR exhibited residual enhancement,while the remaining 5 cases showed no enhancement.Of the 18 MHR cases with residual enhancement,11 showed non-mass-like enhancement and 7 showed mass-like enhancement.The mass(non- mass)morphological pattern in dynamic contrast enhanced-MRI had statistically significant differences in pathological response(P=0.012).Conclusions Pathological response of breast carcinoma after neoadjuvant chemotherapy could be characterized using dynamic contrast-enhanced MRI by identifying patterns of residual contrast enhancement and kinetic curve.Favorable pathological responses correlated with Type Ⅰ TIC,non-enhancement,and non-mass-like residual enhancement.

Objective To investigate the value of three-dimensional speckle tracking imaging (3D-STI) in assessment of left ventricular (LV) strains. Methods Thirty healthy young adults examined by two-dimensional speckle tracking imaging (2D-STI) and 3D-STI. And the results of LV measurements were compared, which included mean peak systolic longitudinal strains, radial strains and circumferential strains. Also, the time consumption of these two methods was compared. Results The time needed for 3D-STI in acquisition and analysis of the images were (309.3±23.4)s, (305.5±11.2)s, while the time for 2D-STI were (490.6±14.4)s, (1261.4±39.9)s. The differences were signiifcant(t=-21.81, 69.94, both P<0.01). The global mean peak systolic radial strains was (48.59±7.68)%by 3D-STI and (33.25±7.27)%by 2D-STI. The difference was signiifcant(t=9.16, P<0.01). The global mean peak systolic longitudinal and circumferential strains were (-17.66±3.14)%, (-17.13±2.29)% by 3D-STI and (-21.35±2.46)%, (-21.97±3.84)% by 2D-STI. The differences were signiifcant(t=5.33, 5.99, both P < 0.01). The 3D-STI strains were different at different levels of LV. The longitudinal, circumferential and radial 3D-STI strains were largest at middle levels. However, 2D-STI strains didn′ t show such trend. Peak strains measured by 3D-STI and 2D-STI showed high inter-observer and intra-observer agreement in Bland-Altman chart. Conclusion 3D-STI is a novel, convenient and reproducible method to evaluate the strains of LV.

Objective To investigate clinical manifestation of unspecified functional bowel disorder (UFBD), the features of coexistence with functional gastrointestinal disorder (FGID) and its relationship with psychological factors and sleep disturbance in the Chinese Army servicemen.Methodsc FGIDs were diagnosed based on the RomeⅢ Modular Questionnaire. The subjects were 189 servicemen with UFBD (UFBD group) and 372 without FGID (control group). All subjects completed symptom checklist 90 (SCL-90) and Pittsburgh Sleep Quality Index (PSQI) questionnaire.Results'Have to rush to the toilet when having a desire to defecate' was the most frequent symptom of UFBD (93.7%). More than one half of UFBD patients had the symptom 'a feeling of incomplete emptying as bowel movements' or 'straining during bowel movements'. Twenty-eight percent of UFBD subjects had combined FGID (namely cFGID). Among them, the most frequent was proctalgia fugax (7.9%), followed by cyclic vomiting syndrome (6.3%), functional fecal incontinence (6.3%), functional dyspepsia (4.8%) and belching (4.8%). The UFBD group scored significantly higher than the control group in the global severity index (GSI) and in all SCL-90 subscales (P<0.05). The scores of the four domains (sleep quality, sleep latency , sleep disturbance and daytime function disorder), total PSQI score and proportion of poor sleeping quality were significantly higher in the UFBD group than in the control group (P<0.05). The subjects scored significantly higher in combined FGID group than in UFBD group in GSI and in all of SCL-90 subscales, except for phobic anxiety subscales (P<0.05). However, there was no significant difference in each domain, total PSQI and proportion of poor sleeping quality between the cFGID group and UFBD group (P>0.05).ConclusionPathogenesis of UFBD may be closely correlated with psychiatric and psychological factors and sleep disturbance. cFGID are associated with an increased severity of psychopathological features.

Objective To investigate the feasibility of rat sodium/iodide symporter (rNIS) as a reporter gene monitoring rat bone marrow mesenchymal cells (rBMSC) transplanted to rat myocardium in vivo.Methods Recombinated adenovirus vector was constructed by rNIS/enhanced green fluorescence protein (EGFP) (Ad-rNIS/EGFP).rBMSC transfected by Ad-rNIS/EGFP were studied using fluorescence microscope.Fifteen rats were transplanted with rBMSC and randomly divided into three groups:rNIS group (with rNIS transfection), blocked group (with rNIS transfection) by oral intake of perchloric sodium before planar imaging(GE Millennium MPR SPECT), and control group (without rNIS transfection).All rats underwent 99Tcm-pertechnetate planar imaging.The biological distribution of 99Tcm-pertechnetate was studied.The expressions of rNIS gene and protein in myocardium were measured by real time polymerase chain reaction (PCR) and western blot, respectively.The expressions of CD29, CD44, CD90, CD11b, CD34 and CD45 were measured by immunohistochemistry.Results rBMSC transfected by Ad-rNIS/EGFP showed EGFP expression under fluorescence microscope.The transplanted rat myocardium could be visualized on 99Tcm-pertechnetate planar imaging in rNIS group.The relative uptake ratio( Rheart/Rhmb, RUR) was 6.7 ±0.4.RUR in control group (3.0 ±0.2) was lower than that in rNIS group (t =2.78, P=0.03).The percentage injection dose per gram of tissue (% ID/g) of the transplanted myocardium was 60.2 ± 20.8 in rNIS group,which was higher than that (2.5 ± 0.4) % ID/g of control group ( t = 7.13, P＜0.001 ).rNIS gene and protein were highly expressed in transplanted myocardium in rNIS group but less expressed in control group.The expressions of CD29, CD44 and CD90 were positive, CD45 and CD45 negative CD11b mildly positive in the myocardium transplanted with infective rBMSC.Conclusion rNIS can efficiently monitor rBMSC transplanted to rat myocardium.

Objective To investigate the effect of Geniposide on GLUT 4 expression in insulin -resistance HepG-2 cells.Methods After estab-lish HepG-2 cell model of insulin resistance by high concentrations of insulin-induced in vitro.The cell in model were randomly divided into three groups: control , Geniposide and blank groups.The expression changes of GLUT4 in insulin resistance HepG-2 cells was observe at the time of 4, 12, 24, 36 h after culture by RT -PCR and immunocyto-chemistry.Results GLUT4 expression was first increased and then de-creased with time in HepG -2 cells after treated by Geniposide , and peaked at 8 h.However , compared with the control group , GLUT4 ex-pression was significantly improved in Geniposide group.The difference was statistically significant ( P <0.05 ).Conclusion The improving effect of Geniposide on the improvement of insulin -resistance of HepG-2 cell in vitro is related to the expression of GLUT 4.

Mutations in the parkin gene have recently been identified in familial and isolated patients with early-onset Parkinson disease (PD) and that subregions between exon 2 and 4 of the parkin gene are hot spots of deletive mutations. To study the distribution of deletions in the parkin gene among variant subset patients with PD in China, and to explore the role of parkin gene in the pathogenesis of PD, 63 patients were divided into early onset and later onset groups. Exons 1-12 were amplified by PCR, templated by the genomic DNA of patients, and then the deletion distribution detected by agarose electrophoresis. Four patients were found to be carrier of exon deletions in 63 patients with PD. The location of the deletion was on exon 2 (1 case), exon 3 (2 cases) and exon 4 (1 case). All patients were belong to the group of early onset PD. The results showed that parkin gene deletion on exon 2, exon 3 and exon 4 found in Chinese population contributes partly to early onset PD.
Adult ; Aged ; Exons ; genetics ; Female ; Gene Deletion ; Humans ; Male ; Middle Aged ; Parkinson Disease ; genetics ; Point Mutation ; Ubiquitin-Protein Ligases ; genetics