OBJECTIVEMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a progressive, multisystem affected mitochondrial disease associated with a number of disease-related defective genes. MELAS has unpredictable presentations and clinical course, and it can be commonly misdiagnosed as encephalitis, cerebral infarction, or brain neoplasms. This review aimed to update the diagnosis progress in MELAS, which may provide better understanding of the disease nature and help make the right diagnosis as well.

DATA SOURCESThe data used in this review came from published peer review articles from October 1984 to October 2014, which were obtained from PubMed. The search term is "MELAS".

STUDY SELECTIONInformation selected from those reported studies is mainly based on the progress on clinical features, blood biochemistry, neuroimaging, muscle biopsy, and genetics in diagnosing MELAS.

RESULTSMELAS has a wide heterogeneity in genetics and clinical manifestations. The relationship between mutations and phenotypes remains unclear. Advanced serial functional magnetic resonance imaging (MRI) can provide directional information on this disease. Muscle biopsy has meaningful value in diagnosing MELAS, which shows the presence of ragged red fibers and mosaic appearance of cytochrome oxidase negative fibers. Genetic studies have reported that approximately 80% of MELAS cases are caused by the mutation m.3243A>G of the mitochondrial transfer RNA (Leu (UUR)) gene (MT-TL1).

CONCLUSIONSMELAS involves multiple systems with variable clinical symptoms and recurrent episodes. The prognosis of MELAS patients depends on timely diagnosis. Therefore, overall diagnosis of MELAS should be based on the maternal inheritance family history, clinical manifestation, and findings from serial MRI, muscle biopsy, and genetics.

Adult ; Aged ; Biomarkers, Tumor ; blood ; Blood Proteins ; analysis ; Breast Neoplasms ; blood ; diagnosis ; Female ; Humans ; Middle Aged ; Neoplasm Proteins ; blood ; Protein Array Analysis ; Proteomics ; methods ; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

Dystonia is a common movement disorder characterized by abnormal gestures and involuntary movement as a result of incoordinate contraction of agonistic and antagonistic muscles.The underlying pathogenesis is very complicated and there are various clinical manifestations.The recent findings in genetics and clinical features of primary dystonia,dystonia-plus syndrome and heredodegenerative dystonia are introduced in this paper.

Objective To compare the accuracy of 64-slice spiral coronary angiography (CTA) and myocardial perfusion imaging (MPI) in the detection of functionally relevant coronary artery disease (CAD). Methods Twenty patients diagnosed as CAD and 11 suspected CAD were studied. Both 64-slice spiral CTA and MPI images were analyzed. For the evaluation of CTA,luminal narrowing ≥50% and ＜50% were visually assessed. Perfusion defects on MPI were detected and allocated to their corresponding coronary vessels.Results Among total 124 coronary vessels, CTA detected stenoses ≥50% in 23 arteries, and 7 showed perfusion defects in the corresponding myocardial areas on MPI. Ten of 101 vessels had stenoses＜50%,and no perfusion defects in the corresponding myocardial areas was found on MPI. There was difference between the degree of coronary artery stenoses and the risk probabilities of myocardial ischemia (χ~2=6.667, P=0.01). No statistical difference was detected between the coronary artery stenoses site and the risk probabilities of myocardial ischemia (χ~2=6.839, P=0.065). The sensitivity, specificity, negative and positive predictive values of 64-slice spiral CTA in detecting perfusion defects on MPI was 41.18%, 85.05%, 90.01% and 30.43%, respectively.Conclusion 64-slice spiral CTA can display important morphologic information of coronary arteries, but with a low positive predictive value. MPI can be used as an important method to evaluate the change of heart function resulted from CAD.

Objective To explore the optimal diagnosis and treatment strategy of tumors at the foramen magnum,the clinical characteristics were analyzed retrospectively.Methods The clinical data of 58 cases with foramen magnum tumors treated with microsurgery in our department were collected and analyzed retrospectively.And intraoperative neurophysiological monitoring was employed in later 21 cases.Results Gross total resection was achieved in 48 of the 58 cases ; Five of the 10 patients with VA encased by tumors were totally resected.Full resection was achieved in 43 of the last 48 cases.Forty-three of the 47 cases with intradural tumors got complete resection,and total resection was achieved in 3 and 2,respectively,in 9 intra-extradural communicated tumors and 2 extradural ones.Symptoms were significantly improved in 50 cases,worsened in 5 patients,and maintained stable in the last 3 patients.Post-operative symptoms were obviously improved in the later 21 cases with intraoperative neurophysiological monitoring employed and the therapeutic effect of the treatment was much better than the former cases.Three patients died postoperatively.Fifty cases got complete follow-up from 6 months to 3 years.Among them,forty-four patients had a KPS score of 80-100,but the other 6 patients less than 80.Conclusion Microsurgical treatment for foramen magnum tumors is effective.Optimal surgical approaches and precise micro-operative techniques are crucial for the tumor removing.It is quite difficult and risky to fully resect the intra-extradural communicated tumors and the ones encasing vertebral artery.Preoperative evaluation should be profound.The application of intra-operative electrophysiological monitoring and the timely management of post-operative complications can improve the prognosis obviously.

Aim: Clone and characterize of the 5′- flanking region of the nitrate reductase (NR) gene derived from Dunaliella salina(D. salina). Methods : The genomic DNA from D. salina was respectively digested with BamHI, EcoRI, HindIII, Pst I, Sal I and Xba I. A genomic walking cassette was ligated to the ends of the digested DNA fragments, and then genomic walking libraries comprising BL, EL, HL, PL, SL and XL were constsucted. The 5′- flanking region of the NR gene from genomic walking libraries of D. salina was amplified by LA-PCR. The DNA sequences were analyzed with the software - Promoter Predictions. Isolated 5′-flanking regions fused to the GUS gene were tested for transient expression in the alga. Results: A single specific PCR product of about 1200bp in length from the HL library was generated. Also, several conserved motifs, such as CAAT-box, GAGA-box were found, which are related to regulation of transcription, and the putative binding sites of transcriptional factors such as EBP, EFII, NF-E1 and LV. BLAST showed that the DNA sequences shared high homology with 5′-upstream region of the NR gene from Dunaliella viridis. The isolated 5′-flanking regions were able to strongly drive GUS reporter gene expression, suggesting that it contains the promoter elements necessary for the transcription of the NR gene. The expression pattern of the GUS gene and the NR gene were similar, both ware induced by nitrate and repressed by ammonium. Conclusion: The cloned 5′- flanking sequences of NR gene derived from D. salina might be a specific promoter with the ability to“switch on or off” an expression of the heterologous gene in transgenic D. salina.

Objective This study was to explore the prevalence of overweight and obesity,and the effects of contextual and individual level determinants on them in the rural areas of Kunming city.China.Methods Shilin County was selected as the study site.Probability Proportional to Size(PPS)sampling method was used to select representative sample of 6006 residents aged 45 years and over from Shilin.Information was obtained from a cross-sectional survey on health.Data was analyzed using a muhilevel logistic modeling.Results The prevalence rates of overweight and obesity were 12.10% and 2.15% in the study area.Males had a higher prevalence of overweight than females(13.60% vs.10.71%).Similar situation was seen in the prevalence of obesity(2.82% vs.1.52%).Both village level and individual level variables were associated with obesity.whereas only individual level variables were related to overweight.Elderly had lower probability of being overweight and obese than younger people with odds ratio(OR)as 0.95(95% CI:0.83-0.97)and 0.93(95% CI:0.82-0.96),respectively.Males had higher probability of being overweight and obese than females:OR of 0.89(95% CI:0.78-0.98)and OR of 0.87(95% CI:0.78-0.97),respectively.Individuals with lower family income had increased probability of having obesity (OR=0.81,95% CI:0.73-0.95).Factor as living in a higher income village was associated with lower prevalence of obesity(OR=0.92,95% CI:0.85-0.98).Conclusion Interventions at village level on obesity in parallel with those at individual level were needed.Prevention and intervention on obesity should be emphasized in villages with higher income.

Objective To study the relationship between the expression of Mycobacterium tuberculosis small heat shock protein Hsp16.3 and the apoptosis of infected mouse alveolar macrophages.Methods The laboratory mice were infected with bacterial suspension of the international standard virulent strain of Mycobacterium tuberculosis H37Rv strains (H37Rv),Hsp16.3 gene deletion mutants of the international standard virulent of Mycobacterium tuberculosis H37Rv strains(△H37Rv),or sterile saline solution (normal control)by the tail vein. After successful replication of mouse infection model in each group,we cleaved the alveolus of each group of mice and collected lavage fluid to obtain alveolar macrophages of the infected mice at days 1 ,3 ,5 ,7 ,9 ,1 1 ,1 3 and 1 5 .Then the infection status of macrophages was observed with confocal laser scanning microscopy;flow cytometry was used to detect the apoptosis rate of alveolar macrophages of the infected mice;Caspase-3 and Bcl-2 expressions were examined by Western blot.Results The apoptosis rate of Hsp16.3 gene was higher in deletion strain (△H37Rv)group and H37Rv strains (H37Rv)group than in control group.The apoptosis rate of alveolar macrophages in △ H37Rv group gradually increased,peaked at day 7 ,and then gradually decreased.It was significantly higher in H3 7 Rv group than in H3 7 Rv strain group from day 1 to 7 and from day 1 3 to 1 5 (P<0 .0 5 ).Caspase-3 and Bcl-2 protein expressions in the macrophages of△H37Rv group and H37Rv group were higher than those of control group.Caspase-3 expression in the microphages of △H3 7 Rv group and H3 7 Rv group gradually increased from day 1 to 7 and peaked at day 7;it peaked again at day 13 in H37Rv group.However,Caspase-3 expression remained significantly higher in△H37Rv group than in H3 7 Rv group (P<0 .0 5 ).Bcl-2 expression in △H3 7 Rv group did not change much at the early stage of infection (P<0 .0 5 ),but gradually increased after day 9 .Bcl-2 expression in H3 7 Rv group did did not change much from day 1 to 7 (P<0.05),but gradually increased after day 7.However,it remained lower in△H37Rv group than in H37Rv group,especially after 7 days(P<0.05).Conclusion Mycobacterium tuberculosis small heat shock protein Hsp16.3 can inhibit the apoptosis of macrophages during the early and late stages of infection,and this inhibition may be achieved by inhibiting the expression of apoptotic protease Caspase-3 and promoting the expression of Bcl-2 protein.

Objective To investigate insulin resistance and the effect of physical training on it in the pa- tients with chronic heart failure (CHF). Methods One hundred and twenty NYHAⅡ-ⅢCHF patients were ran- domly divided into a training group( n = 65 ) and a routine therapy group (n = 55 ). Another 35 healthy subjects were recruited as control group. All the patients were treated with routine anti-CHF drugs, and the training group patients had received physical training twice a day in addition. The HOMA-IR, insulin sensitivity index (ISI) , left ventricu- lar ejection fraction (LEVF), left ventricular fractional shortening( LVFS), 6-minute walking distance, heart rate and mean blood pressure were compared between the training and routine therapy groups before and after physical ex- ercise in both groups, and a comparison was made between the patients and the controls before the intervention with regard to HOMA-IR and ISI. Results Comparing with control group, ISI was reduced while the HOMA-IR in- creased (P

Objective To evaluate the relationship between Multi-slices spiral(MSCT) perfusion and microvessel density (MVD) in maxillofacial tumors. Methods Thirty-one cases of maxillofacial tumors were studied with MSCT perfusion imaging before operation. The time-density curve, perfusion, time to peak(TTP), and Peak enhancement imaging (PEI) of tumors were calculated. MVD of the tumors was measured with immuno-histochemical method by means of detecting factor Ⅷ in all the histologic specimens. Relativity analysis was carried between MSCT perfusion imaging parameters, perfusion curve types and MVD. Results MVD of maxillofacial tumors were higher than normal tissue. MVD remarkably correlated with malignancy of the tumors. Perfusion and time to peak (TTP) correlated well with MVD(t=7.09,4.10, P0.05). Significant difference of MVD in three types of perfusion curve was found(F=8.09,P