Objective To study the clinical characteristics,muscle pathological features,diagnosis and prognosis of TK2-related mitochondrial DNA depletion syndrome(MDS).Methods Clinical and laboratory data of 2 cases of TK2-related myopathic MDS were reported.And data of previously reported 58 TK2-related MDS cases were reviewed.Results Total 60 patients consisted of 35 male and 25 female.The age of onset ranged from the birth to the age of 74 years old,and 54 of the patients were attacked at the age younger than 3 years old.Muscle weakness and hypotonia were detected in all patients,with 40 patients(including the newly diagnosed 2 cases) manifested as pure myopathic form,and 20 patients with other multiple organs involvement.Serum creatine kinase was mildly increased (211-6 500 IU/L) in 53 patients.Elevated serum lactic acid level (2.3-12.0 mmol/L)was observed in 24 patients.Muscle biopsy was available from 55 patients,and ragged red fibers and/or cytochrome C oxidase (COX)-negative fibers were detected in 48 out of them.Nine out of 11 patients received electronic microscope study showed proliferation of abnormal mitochondria.Respiratory chain enzymatic activities in skeletal muscle were reduced in 31 out of 33 patients.Marked mtDNA content reduction was observed in 36 out of 41 patients (4％-25％ of age-and tissue-matched controls).A total of 42 TK2 mutations were found in 60 patients,including 2 novel mutations c.923A ＞ G and c.619-2A ＞ T in this study.Conclusions The most common clinical manifestations of TK2-related MDS are severely,rapidly progressing myopathy with infantile or early childhood onset.As the detection rate of characteristic pathologic features in muscle is high,muscle biopsy is important for the diagnosis of TK2-related MDS.

Objective To investigate the value of the Wells score and D-dimer assay in assisting pulmonary perfusion imaging (PPI) for the diagnosis of acute pulmonary embolism (APE). Methods One hundred twenty-one patients with suspected APE were studied from January, 2006 to December, 2008. All patients underwent the Wells score, the quantitative D-dimer assay, chest X-ray photography, and PPI. The diagnostic sensitivity, specificity, positive predictive value and negative predictive value of PPI with the assistance of Wells score and D-dimer assay were calculated. Results Fifty (41.3%) patients were diagnosed with APE. PPI combined with chest X-ray photography (Q/X scan) showed positive results in 49 patients. The sensitivity, specificity, positive predictive value and negative predictive value of the Q/X scan were 86.0% (43/50), 91.5% (65/71), 87.8% (43/49) and 90.3% (65/72), respectively. With assistance of Wells score >4 and D-dimer≥0. 5 mg/L, Q/X scan had a positive predictive value of 100.0% (29/29), for patients with Wells score ≤4 and D-dimer<0.5 mg/L, the negative predictive value for Q/X scan was 100.0% (41/41). Conclusion Combined with Wells score and D-dimer assay, PPI can make accurate diagnosis of APE.

Objective To assess the proficiency of water monitoring laboratory at rural, county, and provincial levels in Guangdong province, to ensure the province's drinking water monitoring results accurate and reliable. Methods State quality of certified reference materials as water arsenic, fluoride and chloride of 90 copies each were numbered and distributed to 90 monitoring laboratories in the province for testing, The measurement results of the participatory labs were evaluated through normative values and expanded uncertainty, and were compared with those of robust statistics method. Results All participatory labs had timely feedback of their measurement results. The qualified rate was higher when arsenic was tested by hydride generation atomic fluorescence spectrometry and zinc-new silver salt of sulfuric acid spectrophotometric system, while fluoride and chloride by ion chromatography. The average qualified rates of water arsenic, fluoride and chloride of the province's rural drinking water quality monitoring laboratory were 66% (59/90), 72% (65/90) and 72% (65/90), respectively.Seven participatory labs failed the proficiency testing of all three analytes and unqualified rate was 7.8% (7/90)among the ninety participated monitoring labs. The qualified rates of robust statistics method for arsenic fluoride and chloride were greater than those evaluated by the expanded uncertainty, and large deviations with small sample sizes. Conclusions The testing ability of drink-water monitoring labs in Guangdong province has improved.However, by comparison with the requirements of national quality control and testing skills, there is still a gap. It is suggested that internal quality control be included in routine inspeetion to improve laboratory testing technology.

BACKGROUND: Few studies have reported the effects of early tracheotomy in acute severe asthmatic patients. We report two patients with acute severe asthma who were successfully treated with early tracheotomy. METHODS: The two patients with acute severe asthma were retrospectively reviewed. They had been treated at the Department of Emergency and Critical Care, Renji Hospital, Shanghai Jiaotong University School of Medicine. RESULTS: They developed progressively hypercapnia and severe acidosis, and were not improved after conventional therapies. Early tracheotomy after mechanical ventilation decreased airway resistance and work of breathing, and corrected hypercapnia and acidosis. Adequate gas exchange was maintained after tracheotomy. The two patients were subsequently weaned from mechanical ventilation and discharged. CONCLUSION: Early tracheotomy could be a valuable approach in certain patients with severe asthma.

Objective To explore the self-face recognition and its relationship to empathy in patients with schizophrenia.Methods Sixty-two schizophrenic patients and fifty -four healthy subjects were assessed with the self-face recognition task (SFRT) and the interpersonal reactivity index-C (IRI-C).Results The SFRT reaction time in the patients group( (2188 ± 1138) ms) was significantly longer than that in the control group( ( 1152 ± 326) ms) (P ＜ 0.01 ) ;the accuracy in the patients group ( (80 ± 16) ％ ) was significantly lower than that in the control group ( (88 ± 6) ％ ) (P ＜ 0.01 ).The IRI-C total scores,the subscores in perspective taking,the subscores in fantasy and empathic concern of IRI-C were significantly lower in the patients group(respectively(44.82 ± 10.50),(8.98 ± 3.56),( 11.87 ± 4.38 ),( 14.73 ± 4.00) ) than those in the control group ( respectively (49.85 ± 10.28),( 10.78 ± 3.86),( 14.98 ± 6.12),( 17.39 ± 4.56) ) ; the subscore in personal distress of IRI-C in the patients group(9.37 ± 5.12) was significantly higher than those in the control group(6.52 ± 3.89) ( P＜ 0.01 ).There was significant positive correlation between the accuracy for self-face recognition in SFRT and the subscore in fantasy of IRI-C ( r =0.322,P ＜ 0.05 ),the reaction time of SFRT had significantly positive correlation with the subscore in personal distress.Conclusion Schizophren patients have general impairments of self-face recognition and empathic abilities,and the self-face recognition is related to the empathic abilities.

Objective To observe the urodynamic change after spinal cord injury at different levels and the relationship with neurogenic dysfunction of bladder and urethra. Methods Eighty female rats were divided into a control group (20 rats) , a suprasacral spinal cord injury group (30 rats) and a sacral spinal cord injury (30 rats). The urodynamic exam was performed with all the rats before and 20 days after the spinal cord injury model was established by surgical operation. Results The maximum bladder volume and compliance in the su- prasacral injury group were significantly less than the sacral spinal cord injury group and the control, the maxi- mum volume and compliance in sacral spinal cord injury group were significantly less than the control. The DLPP in suprasacral injury group was significantly higher than that in the sacral spinal cord injury group and the con- trol, the DLPP in sacral spinal cord injury group was significantly less than that in the control group. Conclu- sion Urodynamic study is very useful for the early diagnosis and individualized treatment of the neurogenic bladder after spinal cord injury.

The aim of this study is to construct the expression vector of zot gene of Vibrio cholerae and to realize the expression of zot gene of Vibrio cholerae in E.coli and study the biological activity of its recombinant expression product.In order to express zot protein in E.coli,the full-length open reading frame of zot was amplified by PCR from the standard strains of Vibrio cholerae MO45 genome DNA.The PCR product was cloned into prokaryotic expression vector pET-32a(+) with restriction enaymes Bam H I and XhoI.The recombinant vector pET-32a(+)-zot was transformed into E.coli BL21 (DE3) and expressed by IPTG induction.The zot fusion protein was detected by SDS-PAGE and Western blotting and purified by Ni-NTA affinity chromatography.After expression and purification,the recombinant expression protein played as a target for human small intestinal epithelial cells.Restriction endonuclease digestion,PCR and DNA sequencing analysis showed that the zot gene of 1 200 bp was amplified from Vibrio cholerae DNA,and the recombinant plasmid pET-32a(+)-zot was constructed and detected its expression in prokaryotic cell successfully with SDS-PAGE and Western blot techniques.The zot recombinant protein was successfully expressed and purified.The purified zot recombinant protein can cause human intestinal epithelial cells apoptosis.

ObjectiveTo investigate the value of 18F-FDG SPECT myocardial imaging in evaluating haemodynamic change,treatment outcome and prognosis for idiopathic pulmonary arterial hypertension (IPAH).MethodsAll 24 patients with IPAH underwent 18 F-FDG SPECT myocardial imaging.Right ventricle/left ventricle (RV/LV)-FDG uptake was calculated by ROI method drawing over the central areas of left and right ventricular free walls.All patients underwent right heart catheterization within 3 days after imaging studies.Mean pulmonary artery pressure (mPAP) and pulmonary vascular resistance (PVR) were recorded.After six month pharmaceutical treatment,15 IPAH patients were re-examined with 18F-FDG SPECT myocardial imaging followed by repeated right heart catheterization within 3 days.Plasma N-terminal pro-brain naturetic peptide (NT-proBNP) and endothelin-1 ( ET-1 ) were measured in 17 patients using electrochemiluminescent immunoassay and enzyme immunoassay respectively.All patients were followed up for 12 months at least.Correlations between RV/LV-FDG uptake and mPAP and PVR were determined by simple linear regression analysis.Change of RV/LV-FDG before and after treatment was calculated using Student's t-test.Survival in groups with RV/LV FDG uptake ≥ 1.15 and RV/LV-FDG uptake ＜ 1.15 were compared using Log-rank test.ResultsSignificant correlations were found between RV/LV-FDG uptake and mPAP (r =0.562,P ＜ 0.01 ),and between RV/LV-FDG uptake and PVR ( r =0.574,P ＜ 0.01 ).There were no significant correlation between RV/LV-FDG uptake and NT-proBNP( r =0.18 1,P ＞ 0.05 ),but a significant correlation between RV/LV-FDG and ET-1 was observed (r =0.669,P ＜ 0.01 ).The RV/LV-FDG uptake in patients with positive treatment outcome ( n =6) decreased from 1.38 ± 0.52 to 0.92 ±0.26 (t =4.018,P ＜ 0.05) after 6 months treatment.In contrast,no significant change of RV/LV-FDG uptake was seen in those patients (n =9) with negative treatment outcome ( t =1.861,P ＞ 0.05 ).The mean follow-up time was (21 ±8) months.Mean survival time for the patients with RV/LV- FDG uptake ≥ 1.15was 28 months (95％ confidence interval:24-32 months),which was significantly lower than 34 months survival (95％ confidence interval:33-35 months) for the patients with RV/LV-FDG ＜ 1.15 (x2 =3.956,P ＜0.05 ).Conclusions Detection of right ventricle myocardial glucose metabolism level with 18F-FDG SPECT may be a practical method for evaluating haemodynamic change,treatment outcome and prognosis of IPAH.

Objective To assess the accuracy of puncture guided by intelligent positioning (IP) system using magnetic navigation.Methods Five prepared targeted models at three certain depth (<50 mm, samll depth;50-100 mm,medium depth;>100 mm,large depth) underwent puncture guided by intelligent positioning system using IP and conventional ultrasound (US),respectively.Puncture errors,the number of attempt and spent time were recorded and compared .Results For the targets at small,medium and large depth,the errors of IP was (1.88 ±1.18),(1.56 ±0.56) and (3.99 ±1.10) cm,and the errors of conventional US was (4.52 ±2.23),(4.49 ±1.73) and (3.93 ±2.19) cm respectively.The errors of IP were significantly less than those of conventional US at small(t=-2.345,P=0.047) and medium(t=-3.608,P=0.007) depth,but there was no statistically significant difference at large depth (t=0.058,P=0.955). In the IP group,there were statistically significant differences for puncture errors between the small and large depth,as well as between medium and large depth ( F =8.923,P =0.010).There was no statistically significant difference for the errors of IP between the small and medium depth (t=-1.927,P=0.501).For the targets at small,medium and large depth,each puncture was performed in single attempt when guided by IP and in 2,1 and 2 attempt when guided by conventional US .At small and large depth,the numbers of attempt of IP were significantly less than those of conventional US (U=-2.372,P=0.018;U=-2.39, P=0.032).Whereas at medium depth,there was no significant difference (U=-1.000,P=0.690).For the targets at small,medium and large depth,each puncture spent (21.20 ±2.39)s, (27.00 ±4.00)s and (31.80 ±3.83)s when guided by IP,and(45.20 ±9.68),(26.80 ±4.21) and (54.60 ±13.48)s when guided by conventional US.The spent time of IP was less than that with conventional US for small and large depth targets(t =-5.383, P =0.001;t =-3.637, P =0.007).Whereas no statistically significant difference was found for the medium depth target (t=0.077,P=0.916).Conclusion In comparison with conventional US,IP system guided puncture is more accurate and the number of attempt and spent time is less .

Objective To investigate the imaging features of active Crohn′s disease on conventional ultrasound and contrast-enhanced ultrasound (CEUS). Methods The imaging features of 20 patients with an established diagnosis of Crohn′s disease on transabdominal high-frequency ultrasound and contrast-enhanced ultrasound in Shanghai Tenth People′s Hospital from August 2011 to December 2012 were studied retrospectively. Contrast-specific imaging modes were performed and the ultrasound contrast agent was SonoVue. The thickness of inner, outer and all layers of intestinal walls in the lesion area were observed;the ratio between inner and outer bowel wall thickness was calculated;Limberg classiifcation was determined by Power-Doppler results. Likewise, contrast-enhanced ultrasound was used to evaluate the degree and area of bowel wall enhancement, as well as the changes over time. Variance analysis was applied to compare intestinal wall thickness, arrive time of contrast agent, time to peak and washing time of patients with Crohn′s disease from different Limberg groups, and further comparison between groups were anlysed with LSD-t test. Results The intestinal wall thickness of all 20 patients was larger than 4 mm, while the mean thickness of intestinal walls was (8.8±0.4) mm (range 5.5-12.0 mm);the ratio between inner and outer wall thickness was greater than 1.0. Limberg classiifcation wasⅡin 2 patients,Ⅲin 8 patients andⅣin 10 patients. There were two enhancement patterns shown on contrast-enhanced ultrasound:Pattern 1 in 13 (13/20, 65.0%) patients showing simultaneous enhancement in both inner and outer intestinal walls at the same time. Pattern 2 in 7 (7/20, 35.0%) patients showing outward enhancement from inner to outer wall with a predominance of inner wall. The wall thicknesses of patients with Crohn′s disease from Limberg Ⅱgroup, Limberg Ⅲgroup and Limberg Ⅳgroup were (6.6±0.1), (7.5±0.4) and (10.2±0.4) mm respectively. The thicknesses of inner bowel walls were (3.6±0.6), (5.0±0.2) and (7.3±0.3) mm respectively. CEUS time to peak was (30.5±2.1), (26.9±2.4) and (21.0±1.6) s respectively. The wash-in time of the contrast agent was (18.0±5.7), (10.6±1.0) and (8.7±1.2) s respectively. As the Limberg level increased, the thickness of the entire and inner bowel wall both increased, while CEUS time to peak and wash-in time of the contrast agent became longer. These difference was statistically significant. In addition, the ratio between inner and outter wall thickness also increased as the Limberg level increased, however, the difference was statistically insigniifcant. Likewise, the outer bowel wall thickness and the arrival time of the contrast agent in patients with Crohn′s diseases from different Limberg level groups showed no statistical significance. Conclusions The patients with active Crohn′s disease always showed thickened bowel walls, higher Limberg level and complete or partial enhancement of bowel wall on CEUS. There were some correlations between the above-mentioned ifndings.