Objective：Our aim was to investigate the proportion of autosomal recessive (AR) inheritance among families with patients with Duchenne muscular dystrophy (DMD) and clinical feature in patients with AR form of DMD. Methods:A total of 193 families was studied， 8 of them with at least one girl with “DMD - like” phenotype and 185 with only boys with this kind of phenotype. Based on the number of families with at least one affected girl and the number of patients per sibship among these pedigrees, the proportion of families with DMD inherited as an AR trait was estimated. The clinical examination, family history and serum creatine-kinase were studied in 11 patients diagnosed as AR form of DMD. Results: The proportion of families with AR form of DMD was estimated as 9.4%. The average age of being able to walk is (1.47±1.00) year, serum creatine-kinase levels were (2785.10±1500.29) U/L. The clinical symptom occurred at the average age of (8.11±4.32) year in patients with AR form of DMD. Conclusion： The AR form of muscular dystrophy and DMD not be distingushed clinically. Some families with only affected boys diagnosed as typical DMD, in fact, have the AR form of the disease. This study is very useful for genetic consulting.

Objective To detect the main virulence genes and biofilm formation of Enterococci strains isolated from blood samples .Methods Twenty-eight strains of Enterococcus faecalis ( E.faecalis) and 54 strains of Enterococcus faecium ( E.faecium) were collected from blood samples .Five main virulence genes (asa1, esp, hyl, cylA and gelE) were detected by multiplex PCR.Biofilm formation was investigated by using microtiter dish biofilm formation assay .Results All E.faecalis strains were positive for at least one kind of virulence genes , of which 14 strains were concurrently positive for asa1, esp, cylA and gelE.asa1, cylA and gelE were only detected in E.faecalis strains, while hyl gene only existed in E.faecium strains. Twenty-seven strains of E.faecium were esp positive, of which 12 strains were both hyl and esp positive. None of the 5 virulence genes were identified in 10 strains of E.faecium.85.7% of E.faecalis strains and 63.0%of E.faecium strains could form biofilm.Conclusion Compared with E.faecium strains, more types of virulence genes were detected in E.faecalis strains with higher positive rates .Moreover , E.faecalis strains were more likely to form biofilms than E.faecium strains.

BACKGROUND:Preliminary experiments have demonstrated that rat liver homogenate supernatants can induce the morphological changes of human umbilical cord mesenchymal stem cells. However, little is known about whether the induced cells have some phenotypic and functional features of hepatocytes.
OBJECTIVE:To investigate whether human umbilical cord mesenchymal stem cells have some phenotypic and functional characteristic of hepatocytes after being induced by liver homogenate supernatants.
METHODS:Passage 3 human umbilical cord mesenchymal stem cells were used and divided into control group (cells were cultured in basic culture medium) and liver homogenate supernatant group (cells were cultured in liver homogenate supernatants for 3, 5, 7 days). Meanwhile, positive control group (QSG-7701 human liver celllines) and negative control group (simple liver homogenate supernatants) were set up. The protein and mRNA level of hepatocyte markers, alpha-fetoprotein, cytokeratin 18 and tryptophan 2,3-dioxygenase enzyme, were detected at different time points.
RESULTS AND CONCLUSION:After inducement, the stem cells of fusiform shape began to lose their sharp edges and progressively shrunk, and then they changed into hepatocyte-like cells with the morphous of triangle, polygon and anomalism shape. Compared with the control group, the protein and mRNA level of alpha-fetoprotein, cytokeratin 18 and tryptophan 2,3-dioxygenase enzyme significantly increased time dependently after inducement with liver homogenate supernatants (P<0.01). This study demonstrated that human umbilical cord mesenchymal stem cells are able to differentiate into hepatocyte-like cells in vitro that possess some functions of liver cells.

Objective To investigate the effect of manual operation on occupational therapy teaching. Methods 83 students were randomly divided into 2 groups: 41 students of general teaching group and the other 42 of manual operation teaching group, who received the ordinary classroom teaching and manual operation teaching respectively. After 4 h of study, they were measured with Canadian Model of Occupational Performance (CMOP). Results There were 37 and 41 questionnaires recalled from the general teaching group and the manual operation teaching group, and 2 and 3 questionnaires excluded as incomplete respectively. The scores of the classroom atmosphere, interesting stimulation, explanation of curriculum connotation, obtaining professional ideology, ability cultivated to solve practical problems, good relationship between doctors and patients developing, and thinking of discussion stimulating were more in the manual operation teaching group than in the general teaching group (P<0.01). Conclusion Manual operation is a new, effective, convenient, and low-cost mode of teaching for occupational therapy.

Objective To shorten the turn around time of positive blood culture results by optimizing the blood culture positive specimen processing flow.Methods In January 26,2015,the microbiology department started the blood culture positive specimen processing flow optimization project,and applied the Lean Six Sigma method in the microbiological process management.The TAT data of 124 positive blood cultures containing Enterobacteriaceae were collected before and after the start of the project in about two months.We analyzed the turnaround time median,mean and standard deviation and reference Z value,process performance index,millions of error opportunities.We decompose the turnaround time into six time periods to find the key points of the process improvement and the influencing factors,and then put forward the reform measures to optimize the blood culture inspection process.MiniTab17.0 statistical software was used to process capability analysis and double sample t test.Results After the implementation of the project,the average turnaround time of the blood culture was shortened from 77.10 h to 64.03 h,improved by 13.06 h(16.94％).Process performance greatly improved in Ppk value increased from 0.49 to 0.88,the benchmark Z value increased from 1.48 to 2.63.After the improvement,except the positive alarm time of blood culture,the mean of the other decomposition time was significantly shorter than before.Conclusions The application of Six Sigma in process management can greatly improve the work efficiency and process performance.This project can save a lot of manpower,material and financial resources,reduce the waiting,shorten turnaround time,that achieve the desired results.

ObjectiveTo investigate the relationship between polymorphism in the PITX3 gene and hereditary susceptibility of Parkinson's disease (PD). MethodsThree PITX3 single nucleotide polymorphisms ( SNPs ),including rs2281983,rs4919621 and rs3758549 were examined in 509 late-onset PD patients ( LOPD ),290 early-onset PD(EOPD) and 494 healthy controls.Genotyping was carried out in all subjects using a ligase detection reaction( LDR).ResultsAllele and genotype frequencies did not differ between the 799 PD patients and 494 controls ( P values of genotype were 0.494,0.343,0.951 ; P values of allele were 0.369,0.297,0.823 ),between 509 LOPD patients and 494 controls ( P values of genotype were 0.522,0.350,0.630 ; P values of allele were 0.413,0.328,0.571 ),between 290 EOPD patients and 494 controls ( P values of genotype were 0.499,0.492,0.552; P values of allele were 0.321,0.301,0.931 ),and between 509 LOPD and 290 EOPD patients ( P values of genotype were 0.577,0.710,0.127 ; P values of allele were 0.346,0.472,0.077 ) for all three SNPs (rs2281983,rs4919621 and rs3758549).There were no association petween the three PITX3 SNPs and PD.ConclusionThree PITX3 SNPs do not contribute to the risk of developing PD in Chinese population.

Objective:Based on the high-throughput detection technique of multiplex PCR combined with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, constructing the characteristic SNP profiles of different strains, and establishing a rapid, accurate and highly sensitive method for the diagnosis of bloodstream infection pathogens.Methods:Seven kinds of pathogens such as common Escherichia coli were selected as target. The multiple PCR reaction conditions was optimized, and the characteristic peaks of each target bacteria were detected by MALDI-TOF MS to establish the joint detect system. Common primer pairs and central homo-sequence primer pairs were designed to analyse the formation of primer dimer. Using simulated bacterial infection blood samples with detection system to determine specificity and sensitivity. One hundred and fifty blood samples from suspected bacteremia patients were collected from June to September 2020 in a hospital in Beijing, and the identification results were compared to traditional identification method of clinical application that are using χ 2 test. Results:The cycle threshold (Ct) value of the central homo-sequence primers that were designed were more than 38, with a delay of 6-10 cycles. The joint mass spectrometry detection system could detect seven kinds of bacteria divided into two groups at the same time. The target bacteria can be detected specific product of the peak, and the clinical strains other than the target strains only had primer peaks. All maps had non-specific miscellaneous peaks. The sensitivity of Escherichia coli could reach 50 CFU/ml, and the detection limit of other bacteria was 100 CFU/ml. The detection results of 150 patients showed that 46 cases were positive by traditional method. The positive rate was 30.67% (46/150), including two cases of mixed infection. Forty-eight cases were positive by mass spectrometry, and the positive rate was 32.0% (48/150), including three cases of mixed infections. The negative coincidence rate was 100% (101/101). The comparison of the two methods showed that the P=0.625>0.01, the Kappa=0.938, the sensitivity and specificity was 97.82%(45/46) and 97.11%(101/104), respectively. There was no significant difference between the two methods, and the results of nucleic acid mass spectrometry could also be used in clinic. Conclusions:The established detection system can not only quickly and accurately detect seven common pathogens causing bloodstream infection, and effectively shorten the time needed for traditional culture and identification, but also can detect multiple bacterial mixed infections at the same time to make up for the possibility of missed detection. Besides, the method can also be used to identify other bacteria.

Objective To demonstrate the feasibility of DTI in human calf with body phased-array coil and surface coil of spine as receiving coil on 3 T system, and to optimize the parameters of sequence, including slice thickness and b-value. Methods Fifteen healthy volunteers were recruited in this study and randomly divided into three groups. The DTI sequence for head was performed on calf in the first group (5 cases), and the sequence parameters were optimized based on the deficits of the raw and the post-processed DTI images. Then, different slice thickness were applied in the senond group (5 eases) to optimize the slice thickness, and this optimized parameter with the highest score based on quality of the post-processed DTI images was applied in the next step. Finally, different b values were applied in the last group to optimize this parameters. The b value with the highest score based on the quality of the pest-processed was the proper one. Results Three problems existed in the raw and the pest-processed images, when the DTI sequence for brain was used for the calf. First, the SNR of raw images is extremely low. Second, the muscle were unclear on the image with parts of signal lose, especially in the anterior tibialis muscle. Finally, the artifacts due to chemical shift and ghost are quite serious. The scores for muscle display quality with slice thickness of 4 mm , 5 mm and 6 mm were (7.0±0. 0), (8.6±0. 9) and (9.0±0. 0) score respectively, the signal less scores were (5.0±0. 0) and ( 12. 8±2. 6) and ( 13. 8±2. 2) score respectively, and the general score were (22. 0±0. 0) and (30. 1±3.8) and (31.0±4. 1 ) score respectively. The differences of above scores were significant among different slice thickness (F-value were 21. 000 and 30. 544 and 12. 390 respectively, P <0. 05 ). The muscle displaying quality, signal loss and general scores were lowest in group with 4 mm slice thickness (q-value were 4. 896.6. 120,6. 327,7. 138,3. 863 and 4. 043, P < 0. 05 ) o The scores of muscle display quality, signal loss and general for b =400 s/mm2 were (9. 0±0. 0), ( 14. 0± 2. 2 ) and ( 33.0±2. 2 ) score respectively, which were lower than those with b = 800 s/ram2 [(7.0±0.0), (6.2±2.2), (21.8±3.4) score] and b=1000 s/mm2[(7.0±0.0), (5.0±0.0), (20.6±2.2) score] (q-value were 3.873,3.873,6.650,7.672,7. 101 and 5.917, P <0.05)o The scores of muscle displaying quality, signal loss and general for b =600 s/mm2 were (8.2±1.1 ), ( 13.0± 2. 3) and ( 30. 8±3. 8 ) score respectively, which were higher than those with b = 800 s/mm2 and b= 1000 s/nun2 (q-value were 3.873, 3.873, 5.797, 6.820, 5.326 and 5.917, P <0.05).There is no significant difference between b = 600 s/ram2 and 400 s/ram2 ( q-value were 2. 582 and 0. 852 and 1. 775, P > 0. 05 ). Conclusion Our preliminary findings indicate that it is feasible to perform DTI on human calf with 3 T MR. With body phased-array coil and surface coil of spine as receiving coil, the DTI sequence were optimized to acquire enough SNB with slice thickness of 5 mm and b-value of 400 s/mm2.

OBJECTIVETo analyze the relationship between normal serum uric acid (SUA) levels and nonalcoholic fatty liver disease (NAFLD) among postmenopausal women, and determine the possible risk factors of NAFLD in this patient population.

METHODSChinese postmenopausal women who participated in the annual health check-up program from March 2009 to February 2010 were retrospectively assessed to identify individuals with SUA within normal range for study inclusion. For the total 1425 study participants, the recorded data of anthropometric parameters, metabolic factors, and serum biochemical parameters were collected. Results from abdominal ultrasonography examination were used to group participants according to presence of fatty liver. Women with fatty liver were divided into NAFLD and non-NAFLD groups. Further sub-grouping was performed according to SUA quartiles, as follows: Q1 group: less than 226.1 mumol/L); Q2 group: 226.1 mumol/L less than or equal to SUA less than 267.8 mumol/L; Q3 group: 267.8 mumol/Lless than or equal to SUA less than 303.5 mumol/L); Q4 group: 303.5 mumol/Lless than or equal toSUAless than or equal to357.0 mumol/L. The independent-sample t-test was used to compare normally distributed variables between groups, and the Mann-Whitney U test was used to analyze variables with skewed distribution. Categorical variables were examined by the R * C x2 test. Binary logistic analysis was used to determine the risk factors for fatty liver and to adjust for possible confounders. The multiple non-parameter independent-sample test (Kruskal-Wallis test) was used to compare the differences of SUA levels among NAFLD groups with different disease severity.

RESULTSThe prevalence of NAFLD among Chinese postmenopausal women with normal SUA was 32.8%, with NAFLD prevalences of 20.4% (70/343) in women with Q1 SUA, 26.3% (104/395) with Q2 SUA, 35.2% (128/364) with Q3 SUA, and 51.4% (166/323) with Q4 SUA. The prevalence of fatty liver showed a significant increasing trend according to the SUA quartile (x2 = 76.470, P-trend less than 0.01). Women in the SUA Q3 and Q4 groups had significantly higher risk of fatty liver presence than women in the Q1 group (P less than 0.01 for both, with or without adjustment of confounders). Disease severity did not appear to be related to disease severity, as the SUA levels in women with mild, moderate or severe fatty liver were not significantly different (286.8+/-48.2 mumol/L vs. 277.9+/-53.0 mumol/L vs. 281.4+/-48.2 mumol/L, respectively; x2 = 3.025, P more than 0.05).

CONCLUSIONSUA levels were independently correlated with NAFLD in Chinese postmenopausal women. SUA levels in the higher quartiles of the normal range may be an independent risk factor of NAFLD.

Aged ; Female ; Humans ; Middle Aged ; Non-alcoholic Fatty Liver Disease ; blood ; diagnosis ; Postmenopause ; Retrospective Studies ; Risk Factors ; Uric Acid ; blood

BACKGROUND: Lung transplantation can improve quality of life of patients who get terminal pulmonary disease and also it can help to get better survival.Now it has become one of the best therapeutic methods for terminal pulmonary disease.However,limited donors leave the development of lung transplantation in dilemma.The emergence of living lobar transplantation and cadeveric lobar transplantation let this procedure much easier.OBJECTIVE: To evaluate the clinical probability of bilateral lobar transplantation.METHODS: Sequential bilateral lobar transplantation was performed for one 26 years old cystic fibrosis female.Cardiac pulmonary bypass was used during operation.Anti-rejection(Tacrolimus,mycophenolate,etc)and anti-infection was used postoperatively.RESULTS AND CONCLUSION: The recovery course postoperatively was smooth,and the recipient got out of hospital 7weeks later.Bilateral lobar transplantation could offer satisfied short-term pulmonary function.The long term results should be further evaluated.