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1.
Chinese Journal of Medical Science Research Management ; (4): 7-12, 2023.
Article in Chinese | WPRIM | ID: wpr-995820

ABSTRACT

Objective:In order to put forward relevant measures and suggestions to improve the quality of the Investigator-Initiated Trials of oncology in medical institutions.Methods:Through literature research, comparative study, combined with the implementation and management of investigator initiated trials, the current status and challenges of the administration of these trials were analyzed.Results:Investigator-Initiated Trials of oncology become increasingly important. However, its quality is poor compared with Industry-Sponsored Trials due to insufficient funds and lack of effective supervision. Besides, four main challenges as follows were identified: lack of clinical research professionals, the quality concerns of ethical review in some institutions, insufficient funding for clinical research, and imperfect quality management system.Conclusions:Based on the actual needs of IITs of oncology, medical institutions should strengthen the talent cultivation, establish electronic information management platform, increase project support, strengthen scientific research supervision and deepen the awareness of risk prevention to improve the quality of investigator initiated trials.

2.
Chinese Journal of Laboratory Medicine ; (12): 176-182, 2023.
Article in Chinese | WPRIM | ID: wpr-995715

ABSTRACT

Objective:To explore the feasibility of rapid identification of methicillin-resistant Staphylococcus aureus using different algorithms of the matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) mass spectrometer. Methods:Totally 314 clinical isolates of Staphylococcus aureus were selected from the bacterial bank at Beijing Tongren Hospital from January 2017 to June 2019. The samples were identified by MALDI-TOF MS, and screened by cefoxitin disk method (inhibition ring diameter £21 mm) and PCR mecA gene. The strains were divided into a methicillin-resistant Staphylococcus aureus (MRSA) group (130 strains) and a methicillin-susceptible Staphylococcus aureus (MSSA) group (184 strains). Then, after collecting the spectrograms of these samples using formic acid extraction, the MRSA group and MSSA group were divided into three subgroups each, namely MRSA-1 (43 strains), MRSA-2 (42 strains), MRSA-3 (45 strains) and MSSA-1 (60 strains), MSSA-2 (61 strains) and MSSA-3 (63 strains). The groups were studied using genetic algorithm (GA), fast classification algorithm (QC) and supervised neural network algorithm (SNN) in the ClinProTools software on the Bruker MALDI-TOF mass spectrometer, and the convolutional neural network algorithm (CNN) in the Ex-SmartSpec software on the Zhongyuan Hui-Ji mass spectrometer. These studies were repeated for 3 rounds. The first round with MRSA-1 and MRSA-2, MSSA-1 and MSSA-2 being model groups, MRSA-3 and MSSA-3 being validation groups. The validation groups were rotated for each round. The areas under the receiver operating characteristic (ROC) curve expansions of the four algorithms were used to confirm each program′s performance. Then, 38 MRSA strains and 40 MSSA clinical strains were selected from the bacterial bank of the Laboratory of Beijing Tongren Hospital from July 2019 to December 2019, and were put through the formic acid extraction method to collect their spectra. These samples were tested independently with their convolutional neural network models. Results:After three rounds of modeling and verification, the areas under the ROC curves of the three Bruker ClinProTools programs were as follows: for genetic algorithm, the areas were 0.89, 0.74, and 0.64 respectively; for fast classification algorithm, the areas were 0.77, 0.95, and 0.94 respectively; and for supervised neural network algorithm, the areas were 0.90, 0.98, and 0.98 respectively. The areas under the ROC curves of the convolutional neural network algorithm with Zhongyuan Huiji mass spectrometer′s Ex-SmartSpec software were 0.95, 0.99, and 0.99 respectively. The independent test results of convolutional neural network algorithm showed that these results have an accuracy, specificity, sensitivity and AUC of 88.82% (810/912), 81.15% (779/960), 84.88% (1 589/1 872) and 0.92 respectively.Conclusions:The supervised neural network algorithm of Bruker′s ClinProTools and the convolutional neural network algorithm of Zhongyuan Hui-Ji mass spectrometer′s EX-Smartspec is clinically acceptable for rapid identification of MRSA performance indicators. Using convolutional neural network algorithm and MALDI-TOF mass spectrometry, MRSA strains can be identified quickly, providing timely advice for clinical medications.

3.
Chinese Journal of Laboratory Medicine ; (12): 1076-1081, 2021.
Article in Chinese | WPRIM | ID: wpr-912520

ABSTRACT

Strain-resource engineering is often considered as an important infrastructure of microbiology related research and industry. The western developed countries took the lead in establishing the classical microbial resource utilization method, and continuously improved the preservation system, species annotation technology and global sharing mechanism, which realized the expansion and reserve of biological resources since end of the 19th century. The rich and diversified germplasm resources, standard strains and production strains not only have important economic values, but also maintain the advantages of scientific research, bioeconomy (such as antimicrobial agents, vaccines, detection reagent development and standard development, etc.) and national security. Although there has been a lot of progress in related research in recent years, compared with developed countries, there is still a big gap in related fields in China. The investment and top-level design in this area lag far behind the western developed countries, and it is not commensurate with the current level of economic and social development in my country. Drawing lessons from the practice of WFCC and WDCM (World Data Center for Microorganisms, Global microbial data Center, affiliated to WFCC), for the purpose of collecting new clinical species/strains, this paper puts forward some suggestions on the identification, preservation and upload system of isolates.

4.
Chinese Journal of Laboratory Medicine ; (12): 821-826, 2021.
Article in Chinese | WPRIM | ID: wpr-912480

ABSTRACT

Objective:To explore and evaluate a appropriate suitable method for detection of Campylobacter and antibiotic sensitivity test for foodborne diarrhea in clinical laboratories. Methods:Pre-experiment:a total number of 400 fecal samples of patients with foodborne diarrhea were prospectively collected from the intestinal disease clinic of Beijing Tongren Hospital from September 2017 to January 2018. Double-hole filtration culture method and modified cefoperazone charcoal deoxycholate (CCD) agar culture method were used for fecal culture in micro-aerobic environment for 48 hours, and then suspicious colonies were identified by matrix assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry. Meanwhile, C. jejuni and C. coli were detected by real-time quantitative polymerase chain reaction(qPCR). Large sample verification: 2 062 fecal samples of patients with foodborne diarrhea in three hospitals of different levels in different areas of Beijing were collected for qPCR detection and culture from April 2018 to March 2019. The antimicrobial sensitivity test (AST) of C. jejuni and C. coli was performed according to the disk diffusion method and agar dilution method recommended by Clinical and Laboratory Standards Institute and National Antimicrobial Resistance Monitoring System for Enteric Bacteria. The results of the three detection methods and the consistency of the two antibiotic sensitivity tests were compared. Results:In the pre-experiment, the positive rates of Campylobacter ( jejuni/coli) detected of qPCR, double-hole filtration culture and modified CCD agar culture were 9.0% (36/400), 5.0% (20/400)and 3.5% (14/400), and the difference was statistically significant ( P<0.01). The samples with negative result of qPCR were negative by both culture methods. The total positive rates of Campylobacter detected by qPCR was 8.1% (168/ 2 062)including 7.0% (144/2 062) for C. jejuni and 1.2% (24/2 062) for C. coli. The samples with positive qPCR results were cultured by double-hole filtration culture method and the positive rate was 61.9%(104/168), among which, the positive rate of C. jejuni and C. coli were 58.3%(84/144) and 83.3%(20/24) respectively, which was not significantly different from the detection rate and culture positive rate in the pre-test ( P>0.1). The resistance rates of C. jejuni and C. coli to ciprofloxacin were 94.0%(94/100) and 100.0%(24/24) and to erythromycin were 6.0%(6/100) and 33.3%(8/24). The results from two antibiotic sensitivity test methods were consistent (Kappa>0.75). Conclusions:qPCR is rapid, sensitive and easy to operate, so it is suitable for routine development in clinical laboratories. The double-hole filtration culture method is beneficial to the acquisition of strains and is essential for the further study of Campylobacter. There was no significant difference between agar dilution method and disk diffusion method in antibiotic sensitivity test. Campylobacter showed a very high resistance rate to quinolones, which was no longer suitable for the treatment of Campylobacter foodborne diarrhea in Beijing area. Macrocyclic lipid antibiotics should be preferred.

5.
Chinese Journal of Laboratory Medicine ; (12): 310-316, 2021.
Article in Chinese | WPRIM | ID: wpr-885918

ABSTRACT

Objective:To quantitatively analyze the clinical and drug resistance feature of diarrhea of adults patients in 2016 and 2019 induced by the Escherichia coli (diarrheagenic Escherichia coli, DEC), and to reveal the difference of DEC′s epidemiological features of before and after measuring to strengthen food hygiene and safety in Beijing. Methods:A total number of 3 408 patients with food-borne adult diarrhea were received diagnosis and treatment in the intestinal clinic department of Beijing Tongren Hospital in 2016 and 2019.There were 1 926 patients in 2016 and 1 482 in 2019, respectively. The clinical information of patient were entered into the intestinal early warning system and were carefully preserved. The clinical specimens (the stool samples) were isolated and the DECs were identified by culturing. The colony of DECs was identified by matrix assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry. Five pathogenic types of Escherichia coli were classified by multiplex PCR methods. The drug-susceptibility test was performed according to the standards of the American Society for Clinical and Laboratory Standardization in 2019. The categorical data were analyzed by χ 2 test or Fisher′s exact test to verify the statistical difference. Results:A total number of 581 DECs strains were detected in 3 408 specimens. Among the subtypes of E Coli, the Enterotoxigenic Escherichia coli (ETEC) accounted for 53.36% (310/581), and Enterohemorrhagic Escherichia coli (EHEC) was detected. In 2016, the total detection rate of DEC was 14.54% (280/1 926), enteroaggregative Escherichia coli (EAEC) accounted for 18.21% (51/280), and ETEC accounted for 71.79% (173/280). In 2019, the total detection rate of DEC was 20.31% (301/1 482), EAEC accounted for 41.23% (116/301), and ETEC accounted for 48.93% (137/301). Compared with 2016, the detection rate of EAEC in 2019 increased significantly (χ2=29.26, P<0.001), followed by EPEC (χ2=9.37, P=0.002), and ETEC decreased (χ2=15.43, P<0.001). Compared with other pathogenic types, EAEC can easily cause nausea(χ2=32.72, P<0.001).The red blood cells(χ2=16.44, P=0.001) or the white blood cells (χ2=26.82, P<0.001) could be easily observed in stool specimens of patients infected with enteroinvasive Escherichia coli (EIEC). The resistance rates of EIEC to ampicillin, ampicillin/sulbactam and gentamicin were 80.95% (17/21), 66.67% (14/21) and 57.14% (12/21), respectively. Three strains of EAEC resistant to carbapenem antimicrobials were discovered in 2019 and of which two strains were resistant to ertapenem and imipenem, and the other one strain was only resistant to ertapenem. The whole genomic sequencing showed that there are multiple resistance mechanisms: including the mainly drug-resistant nodular cell differentiation family efflux pump, penicillin binding site mutation, and New Delhi metal-β-lactamase 5 production. Conclusions:The detection rate of DECs in adult patients with food-borne diarrhea is high, and the foremost subtype of DECs is ETEC. Compared with 2016, the detection rates of ETEC in clinical specimens decreased in 2019, and the detection rate of EAEC increased significantly, respectively. In 2019, a carbapenem-resistant antibacterial drug-resistant Escherichia coli strain was isolated. It is of great significance to focus on the biological characteristics and epidemiological changes of DEC.

6.
Chinese Journal of Clinical Laboratory Science ; (12): 404-410, 2018.
Article in Chinese | WPRIM | ID: wpr-694854

ABSTRACT

Objective To establish a liquid chromatography-tandem mass chromatography ( LC-MS/MS) method for determination of vancomycin concentration in human serum and compare its methodological performance with chemiluminescence microparticle immuno-assay (CMIA). Methods The proteins in serum sample were precipitated by methanol and then vancomycin was eluted and separated on Agilent Poroshell 120EC C18 column (2.1 mm×50 mm, 2.7 μm) with mobile phase of methanol and water in a gradient percentage. Both phases of methanol and water contained 0.1% formic acid. The flow rate was 0.5 mL/min. Norvancomycin was applied as internal standard. Electrospray ionization source was applied and operated in positive ion mode of multiple reaction monitoring (MRM). A total of 112 serum samples collected from the patients taking vancomycin in our hospital, and the results were compared with those of CMIA. Results The method exhibited good linearty within the concentration range of 1 to 100 μg/mL (r2= 0.9964).The intra-and inter-day accuracy and precision were all satisfactory for the requirements of quantitative drug testing. No matrix effect and carry-over effect were observed. The results of Wilcoxon symbol rank test showed a difference with statistical significance was found between the serum con-centrations of vancomycin determined by LC-MS/MS and CMIA (P<0.05), but strong positive correlation and good linear regression were shown between the two methods (Y=1.06X-0.37, r=0.986). Conclusion LC-MS/MS should be a cost-saving method superior to CMIA. Its results highly correlated with those of CMIA method. The advantages of LC-MS/MS on accuracy and precision obviously outperformed those of CMIA. Since all the results of LC-MS/MS are comparable to CMIA, this method should be promising to use in determining concentration of vancomycin in serum samples with high clinical value.

7.
Chinese Journal of Clinical Laboratory Science ; (12): 314-316, 2018.
Article in Chinese | WPRIM | ID: wpr-694840

ABSTRACT

Objective To investigate the epidemic tendency and drug resistance of common pathogenic bacteria in the patients with infectious diarrhea,and then provide scientific evidence for the treatment of bacterial diarrhea.Methods The feces specimens were collected from 12 156 patients with infectious diarrhea in our hospital during April 1,2012 and October 31,2017.Then,they were cultured,and the obtained bacteria were isolated and identified by the Vitek 2 Compact system and matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF-MS).The serotype and drug resistance of the obtained bacteria were analyzed by the agglutination test and K-B disk diffnsion method,respectively.Results A total of 1 218 strains (10.02%,1 218/12 156) of pathogenic bacteria were isolated from 12 156 feces specimens,including 926 (7.62%,926/12 156) strains of Vibrio,96 (0.79%,96/12 156) strains of Aeromonas,178 (1.46%,178/12 156) strains of Salmonella and 18 (0.15%,18/12 156) strains of Shigella.The detection rates of pathogenic bacteria per year were 9.2%,11.9%,13.4%,7.0%,11.3% and 7.2%,respectively,from 2012 to 2017.The detection rate of Shigella was low,but it had a high resistance to ampicillin and compound sulfamethoxazole (SMZ-TMP).Other pathogenic bacteria were more sensitive to SMZ-TMP,ceftriaxone,aztreonam,gentamycin and quinolones except ampicillin.Conclusion The main pathogenic bacterium in the patients with infectious diarrhea is Vibrio,and Shigella has the highest resistance to most drugs.The overall infection tendency is sporadic.It is necessary to strengthen the monitoring of pathogenic bacteria and their drug resistance in the patients with infectious diarrhea.

8.
Chinese Journal of Clinical Laboratory Science ; (12): 297-303, 2018.
Article in Chinese | WPRIM | ID: wpr-694837

ABSTRACT

The matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) is one of the first choice techniques for clinical microbiological identification owing to its fast,accuracy,low cost and easy to be operated.The accuracy of identification of MALDI-TOF MS relies on good instrument status,appropriate pre-trement,standardized operation and the rules of interpretation.Any errors in this process will directly influence the accuracy of identification.Therefore,strict internal quality control for the microbiological identification by MALDI-TOF MS is very important.Based on six years of research and clinical application experience,our laboratory establishes a relatively complete internal quality control system for the microbiological identification by MALDI-TOF MS,including all aspects of hardware,software and manual operation,the parameter settings,maintenance and calibration of the instrument,the preparation of strains and reagents,spectra acquisition and the interpretation and analysis of results,Which can make abnormal results be quickly traced and timely handled.

9.
Chinese Journal of Laboratory Medicine ; (12): 519-526, 2018.
Article in Chinese | WPRIM | ID: wpr-806909

ABSTRACT

Objective@#To establish the domestic matrix assisted laser desorption/ionisation time of flight mass spectrometry database for identification of clinical mycobacteria and evaluate its accuracy with foreign counterpart. @*Methods@#The establishment of "Chinese Pathogenic Mycobacteria Mass Spectrometry Database" : nineteen American type culture collection strains from 19 species and 183 "standardized" isolates from 42 species were selected and extracted by modified ultrasonic extraction method for spectral acquisition and database establishment based on microTyper MS. Each extract was dropped onto 12 spots and tested twice to generate 24 spectrum, then at least 20 qualified spectrum according to the standard were selected. Subsequently they were composed into one main spectra (MSP) by setting peak number maximum, peak frequency minimum and mass tolerance. Verification of database: Totally 305 mycobacteria from different regions were used for comparison of accuracy and spectral features between microTyper MS based on domestic database and imported MALDI TOF MS base on Mycobacteria Library 3.0 database. @*Results@#The database composed of 202 stains from 42 species was constructed, with an average of 4.8 in each species. The top ten were M. Kansasii(16), M. intracellulare(16), M. gordonae(16), M. fortuitum(16), M. avium(16), M. abscessus(16), M. tuberculosis(15), M. marseillense(11), M. arupense(10), M. yongongens(8). A total of 305 isolates were confirmed belonging to 22 species by sequencing. The accuracy based on this database was 99.67% (304/305), which was better than the Mycobacteria Library 3.0 database (χ2=4.06, P<0.05). @*Conclusion@#The construction of the "Chinese Pathogenic Mycobacteria Mass Spectrometry Database" meets the requirement of routine clinical application and was more accurate than its counterpart in terms of domestic comment strains.(Chin J Lab Med, 2018, 41: 519-526)

10.
Chinese Journal of Industrial Hygiene and Occupational Diseases ; (12): 474-477, 2018.
Article in Chinese | WPRIM | ID: wpr-806626

ABSTRACT

Objective@#To investigate the effects of cadmium exposure on cardiovascular system of occupational workers.@*Methods@#Cross-sectional study was applied to 992 workers in a nickel-cadmium battery plant in November, 2011, of which 749 were cadmium exposed workers and 243 were controls without cadmium and other expose. Urinary cadmium、electrocardiogram (ECG) and blood pressure were examined simultaneously among 992 workers. The risk factors of ECG abnormality rate and hypertension rate were analyzed by Logistic regression.@*Results@#The level of urinary cadmium in cadmium exposed workers was significantly higher than controls (8.89±4.00 vs 1.34±1.18 μg/g creatinine, P<0.01) . Urinary cadmium level in women was significantly higher than men in both exposure and control group (P<0.05) . According to the group of working years, Urinary cadmium level raised with the increase of working years (F=28.272, P<0.001) . The ECG abnormality rate and hypertension rate of cadmium exposed workers were higher than that of control group, the differences were all statistically significant (P<0.01) . The abnormal rate of ECG and the hypertension rate increased with the prolonging of working years and demonstrated dose-response relationship. With the increase of urinary cadmium level, the abnormal rate of ECG and hypertension rate raised (OR=1.11, P<0.01) and (OR=1.15, P<0.01) respectively.@*Conclusion@#Occupational cadmium exposure increased the abnormal rate of ECG and blood pressure and therefore damaged cardiovascular system of workers. This study provided base data for protecting health of cadmium exposed workers.

11.
Chinese Journal of Microbiology and Immunology ; (12): 225-229, 2017.
Article in Chinese | WPRIM | ID: wpr-513643

ABSTRACT

Objective To detect the antibiotic resistance of four kinds of gram-negative bacilli strains against seven antibiotics and to analyze the differences in antibiotic resistance between the strains isolated in intensive care unit (ICU) and common wards.Methods This study involved 3 238 gram-negative bacilli strains isolated in Beijing Tongren Hospital from January to December 2016.Of all strains, 46.6% were isolated in ICU (severe group) and 53.4% were isolated in common wards (general group).Resistance of these strains to seven kinds of antibiotics was detected and the differences between the two groups were analyzed.Results Antibiotic resistance rates of Pseudomonas aeruginosa strains to ceftriaxone, cefepime and imipenem were 41.7%, 41.2% and 39.5% in severe group and 20.9%, 21.7% and 17.1% in general group.Moreover, the differences between the two groups were all statistically significant (χ2Cefatriaxone=56.72, P<0.01;χ2Cefepime=49.12, P<0.01;χ2Imipenem=69.81, P<0.01).Antibiotic resistance rates of Klebsiella pneumoniae strains to imipenem was 17.2% in severe group and 8.8% in general group, and the difference between the two groups was statistically significant (χ2Imipenem=11.48, P<0.01).Resistance rates of Escherichia coli strains to ceftriaxone and cefepime were 72.9% and 35.8% in severe group and 44.7% and 13.3% in general group, and the differences between the two groups were statistically significant (χ2Ceftriaxone=40.13, P<0.01;χ2Cefepime=41.61, P<0.01).More than 60% of Acinetobacter baumanii strains whether they were isolated in ICU or in common wards were resistant to all the seven antibiotics, and there were no significant differences between the two groups.Conclusion Gram-negative bacilli strains isolated in ICU have higher resistance rates than those isolated in common wards and therefore antibiotics should be used differently.Regular monitoring of drug resistance should be strengthened to provide references for empirical clinical medication.

12.
Chinese Journal of Laboratory Medicine ; (12): 700-706, 2017.
Article in Chinese | WPRIM | ID: wpr-668086

ABSTRACT

Objective To develop a new risk model for predicting type 2 diabetes (T2D) in a rural Chinese population in north China.Methods A village-based cohort study was performed.Data from Handan Eye Study conducted from 2006-2013 comprising 4 132 participants aged 30 years old (1 793 male and 2 339 female) with complete diabetes data at baseline and follow-up were analyzed.The blood biomarkers of T2D incident risk were screened and a new risk model was derived by using unconditional stepwise logistic regression after adjustment of age,body mass index (BMI),waist circumference,and family history of diabetes in random two-thirds of the sample cohort (selected randomly).In addition,a simple point system for T2D risk was built according to the procedures as described in Framingham Study,and the new risk score was subsequently validated in the final one-third of the sample cohort.Results The new risk score included age (8 points),BMI (6 points),waist circumference (8 points),family history of diabetes (9 points),fasting plasma glucose (23 points),and triglycerides (4 points).The score ranged from 0 to 58.The AUC was 0.802 (0.780-0.822) in the validation sample.At the optimal cutoff value of 27,the sensitivity and specificity were 70.27% (58.50%-80.30%) and 80.83% (78.60%-82.90%) respectively.Conclusions A new risk model for predicting T2D have been developed in a rural Chinese population in north China,and the risk score can be used in rural basic health care settings after validation.

13.
Chinese Journal of Laboratory Medicine ; (12): 756-760, 2017.
Article in Chinese | WPRIM | ID: wpr-667276

ABSTRACT

Accurate diagnosis and treatment of infectious diseases are vital, in which rapid, efficient,precise and comprehensive laboratorial detection plays a crucial role.The emergence of mass spectrometry technique revolutionized the test for biomacromolecule in clinical laboratory.The contribution of matrix-assisted laser desorption/ionization time of flight mass spectrometry(MALDI -TOF MS)for laboratory diagnosis of infectious diseases was particularly significant.With the knowledge about the principles of MALDI-TOF MS and microbiology,it is not only able to allow you to have an insight into the details,but also help you to further develop and expand the application.Holographic mass spectrometry consists of, liquid chromatography -mass spectrometry(LC -MS)and gas chromatography -mass spectrometer(GC -MS)becomes a pipe dream.The combination of the three mass spectrometer technologies complement each others advantages,so that the application can be extended.They can not only accurately confirm the pathogens, but also detect the immune response products, metabolite and molecular markers of infectious diseases in order to obtain more comprehensive information of both pathogens and hosts, so that the laboratorial diagnosis can be more comprehensive, precise and individual.The application of holographic mass spectrometry breaks through the classic method and nucleic acid detection technology.It can not only embody speediness and accuracy, but also reflect the promotion of science level and research capability.

14.
Chinese Journal of Medical Genetics ; (6): 213-215, 2017.
Article in Chinese | WPRIM | ID: wpr-335153

ABSTRACT

<p><b>OBJECTIVE</b>To detect potential mutation of immunoglobulin μ -binding protein 2 (IGHMBP2) gene in a two-year-old patient with spinal muscular atrophy with respiratory distress type 1 (SMARD1).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood sample from the patient and her parents, as well as cord blood sample from the fetus. Potential mutations of the coding region of the IGHMBP2 gene was detected with PCR and Sanger sequencing.</p><p><b>RESULTS</b>A heterozygous missense mutation c.1060G>A and a frameshift mutation c.2356delG was detected in the patient. The mutations were respectively inherited from her father and mother. Neither mutation was found in DNA derived from the cord blood sample.</p><p><b>CONCLUSION</b>The missense mutation c.1060G>A and frameshift mutation c.2356delG were probably causative for the disease. Analysis of the IGHMBP2 gene has provided an important clue for the etiology and prenatal diagnosis of SMARD1.</p>


Subject(s)
Adult , Child, Preschool , Female , Humans , Infant , Male , Pregnancy , Base Sequence , DNA Mutational Analysis , DNA-Binding Proteins , Genetics , Molecular Sequence Data , Muscular Atrophy, Spinal , Genetics , Prenatal Diagnosis , Respiratory Distress Syndrome, Newborn , Genetics , Transcription Factors , Genetics
15.
Chinese Journal of Infectious Diseases ; (12): 411-414, 2017.
Article in Chinese | WPRIM | ID: wpr-615259

ABSTRACT

Objective To evaluate the diagnostic value of treponema pallidum particle agglutination (TPPA) and toludine red unheated serum test (TRUST) for the therapeutic effects of early syphilis.Methods Syphilis patients visited the Dermatological Department of Beijing Tongren Hospital, Capital Medical University from January 2012 to October 2016 were recruited, including 189 patients with early syphilis and 39 patients without clinical symptoms but with risky behavior within 3 months.Serum samples were tested by TPPA and TRUST respectively before treatment and at month 3, 6, 12 after treatment.Comparison between groups was done by χ2 test.Results Serum TPPA results of 228 patients with early syphilis prior to the treatment and within 12 months after treatment were all positive.Before treatment, TRUST tests results of 225 patients were positive, and 156 patients turned negative after 12 months of treatment with the negative conversion rate of 69.3%.The TRUST titer ≤1∶4 before treatment was defined as low-titer group, and ≥1∶8 before treatment was defined as high-titer group.There were 93 patients in the low-titer group, including 3 patients with negative results, and 90 patients with titer 1∶1-1∶4.There were 135 patients in the high-titer group.Twenty-seven patients achieved TRUST negative conversion after 3 months of treatment, among which 19.35%(18/93) with the negative conversion rate in the low-titer group and 6.67%(9/135) in the high-titer group.The difference between the two groups was statistically significant (χ2=7.10, P0.05).Conclusion Serological tests combined with clinical signs can accurately diagnose early syphilis and evaluate the therapeutic effects.

16.
Chinese Journal of Laboratory Medicine ; (12): 771-775, 2016.
Article in Chinese | WPRIM | ID: wpr-501720

ABSTRACT

Objective To evaluate serum level of pepsinogenⅠ( PGⅠ) ,PGⅡ, and PGⅠ/PGⅡ-ratio ( PGR ) using latex enhanced turbidimetric immunoassay in patients with different gastric mucosal lesions, and to investigate their changes and clinical significance.Methods Case-control study.Two hundred and seventy-five patients who had enteroscopy and pathological examination from the department of gastroenterology and surgery from Beijing Tongren Hospital between January 2015 and January 2016 were enrolled.Endoscopic and histopathological examination confirmed the normal control group (n=20), chronic non-atrophic gastritis group ( n=68 ) , chronic atrophic gastritis group ( n=76 ) , including antral atrophic gastritis ( n=30 ) , gastric body atrophic gastritis ( n=26 ) , and multifocal atrophic gastritis ( n=20 );intestinal metaplasia group ( n=28 ) , intraepithelial neoplasia group ( n=9 ) , benign gastric ulcer group ( n=46) and intestinal gastric cancer group ( n=28).Latex-enhanced immune turbidity method were used to detect the patients fasting serum PGⅠand PGⅡ.Then the PGR was calculated.The normally distributed data of each group were statistically analyzed by ANOVA, the data between groups were nalyzed using the Mann-Whitney U test and Kruskal-Wallis test.Results Serum PGⅠ[ ( 74.23 ±22.36 ) ] ng/ml and PGR (6.92 ±2.16) in chronic atrophic gastritis group were lower than those in normal controls[PGⅠ(98.94 ± 21.00) ng/ml, PGR 8.13 ±2.47],(FPGⅠ =18.297,PPGⅠ <0.01,FPGR =4.713,PPGR <0.01).The serum PGⅠ[(44.46 ±26.72) ng/ml] and PGR (3.09 ±0.83) in the intestinal type of gastric cancer group were lower than those in the chronic atrophic gastritis group[PGⅠ(74.23 ±22.36)ng/ml, PGR 6.92 ±2.16], (ZPGⅠ =-3.921,PPGⅠ <0.01,ZPGR =-6.662,PPGR <0.01).PGⅠ[(129.95 ±43.39) ng/ml].PGⅡ[(21.09 ±6.78) ng/ml]in the gastric benign ulcer group were higher than those in the normal controls[PGⅠ (98.94 ±21.00) ng/ml, PGⅡ(12.64 ±1.84) ng/ml], FPGⅠ =10.803,PPGⅠ <0.01;FPGⅡ =39.130,PPGⅡ <0.01. PGⅠ[(52.44 ±10.37) ng/ml and PGR (5.47 ±1.59) in the multifocal atrophic gastritis group were lower than those in the antral atrophic gastritis[PGⅠ(94.95 ±14.45)ng/ml, PGR 8.39 ±1.48],ZPGⅠ =-5.941,PPGⅠ <0.01,ZPGR =-4.911,PPGR <0.01.The AUC of PGⅠand PGR for diagnosis of chronic atrophic gastritis were 0.752 and 0.683 respectively.The sequence combined detection sensitivity was 72.37%(55/76), and the specificity was 70.85%(141/199).The AUC of PG I and PGR for diagnosis of intestinal type of gastric cancer were 0.852 and 0.895 respectively.The sequence combined detection sensitivity was 71.42% ( 20/28 ) and the specificity was 81.78% ( 202/247 ) . Conclusion The Latex-enhanced immune turbidity method of combined detection of serum PGⅠ, PGⅡlevels and PGR can be used in the clinic to monitor the status and function of gastric mucosa and are informative for gastric cancer and precancerous lesions of gastric mucosa.

17.
Chinese Journal of Physical Medicine and Rehabilitation ; (12): 801-805, 2015.
Article in Chinese | WPRIM | ID: wpr-489422

ABSTRACT

Objective To investigate whether functional electrical stimulation (FES) can improve the expression of proteins in the NMDAR1-pGLuR1 pathway so as to promote the recovery of motor function and sensation after stroke.Methods Eighty-one Wistar rats were used to make a photochemical brain model of local ischemia.Rats were randomly assigned into a sham, placebo stimulation or FES group.Rats in the placebo and FES groups had local ischemia induced in the M1 zone of the brain using the photosensitive dye Bengal rose.It was administered intravenously and a laser beam was then stereotactically positioned on the skull.The rats in the FES groups were stimulated for 30 minutes (10 minutes on, 10 minutes off, then 10 minutes on).The placebo group's treatment was similar, but without the electric current.The rats in the sham group received no intervention.The cylinder test and the adhesive-removal test were used to test the rats' motor function and sensation before the operation and before they were sacrificed.Cohorts were sacrificed after 3, 7 and 14 days of intervention.NMDA receptor and AMPA receptor were detected in the peri-ischemic cortex using western blotting.Results After 7 and 14 days the index of forelimb motor function in the cylinder test of the FES group was significantly better than that of the placebo group.The average adhesive-removal time of the FES group was also significantly faster compared with the placebo group.After 7 days the average expression of NMDAR1 in the FES group was significantly higher than in the placebo group.The average expression of GluR1 and pGluR1 in the FES group was significantly higher than in the placebo group after 14 days.Conclusion Functional electrical stimulation can improve motor function after ischemia through the NMDARAMPAR signal pathway, at least in rats.

18.
Chinese Journal of Physical Medicine and Rehabilitation ; (12): 641-645, 2015.
Article in Chinese | WPRIM | ID: wpr-479992

ABSTRACT

Objective To study the effects of different types of exercise training on learning and memory, as well as on the expression of synaptophysin (SYP) and on postsynaptic density protein 95 (PSD-95) in rats in which a model of vascular dementia had been created.Methods Forty male Wistar rats were divided randomly into a voluntary exercise group (V-EX) , a forced exercise group (F-EX) , an involuntary exercise group (I-EX) , a vascular dementia group (VD) and a sham-operation group (Sham) , with 8 rats in each group.Two-vessel occlusion (2-VO) of the arteria carotis communis was used to create a model of vascular dementia in all of the rats except those in the sham-operation group.Beginning one week after the surgery, the V-Ex rats were free to run in a running wheel.The F-EX rats were forced to run 270 m a day in an electric wheel.The I-EX rats were stimulated to imitate the gait pattern of their forelimbs running at 9 m/min three times a day for l0 minutes each time.No special training was given to the rats in the other 2 groups.Three weeks after the surgery, their learning and memory were tested using a novel object recognition test.Immediately after the test, their prefrontal cortex was sampled and the expression of SYP and PSD-95 was detected using western blotting.Results The average novel object recognition indices of the rats in the V-EX, F-EX and I-EX groups were all significantly higher than that of the VD group.Average PSD-95 expression was also significandy higher than in the VD group.Conclusion Exercise, whether voluntary, forced or induced by functional electrical stimulation can improve learning and memory in vascular dementia, at least in rats.The mechanism is possibly that the training can increase the expression of PSD-95 in the prefrontal cortex, though not SYP.

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Chinese Journal of General Surgery ; (12): 385-387, 2014.
Article in Chinese | WPRIM | ID: wpr-447050

ABSTRACT

Objective To investigate the distribution of anxiety and depression disorders in patients of carotid artery stenosis (CAS),and the relationship between symptoms of cerebral infarction and the severity of anxiety and depression.Methods We used Self-Rating Anxiety Scale (SAS) and Self-Rating Depression Scale(SDS) created by William W.K.Zung to evaluate the anxiety and depression disorders associated with CAS in 93 patients hospitalized at the Department of Vascular Surgery,and 146 hospitalized varicose veins patients as acontrols.Results The scales of CAS are significantly higher than the control group(SAS:32 ± 8 vs 29 ± 7,P < 0.001 ; SDS:42 ± 14 vs 35 ± 11,P < 0.001),within-group analysis of CAS shows that there is no statistical difference between symptomatic group and non-symptomatic group (SAS:32 ±8 vs 32 ± 7,P =0.780; SDS:41 ± 14 vs 42 ± 14,P =0.830),or between infarction group and non-infaction group (SAS:31 ± 8 vs 33 ± 8,P =0.147; SDS:39 ± 14 vs 43 ± 13,P =0.241).Conclusions CAS can cause anxiety and depression disorders,and the disorders are not related to symptoms of cerebral ischemia and cerebral infarction.

20.
Chinese Journal of Laboratory Medicine ; (12): 548-552, 2013.
Article in Chinese | WPRIM | ID: wpr-436556

ABSTRACT

Objective To study on virulence characteristics and multilocus sequence type of Vibrio parahaemolyticus isolated from clinic in Beijing Tongren hospital.Methods Total 152 strains of Vibrio parahaemolyticus isolates were collected from diarrheal patients of outpatients in Beijing Tongren Hospital,Capital Medical University from 2009 to 2011.PCR was used to detect hemolysin gene thermo stable direct themolysin gene (tdh),TDH-related hemolysin gene (trh),type Ⅲ secretion system 2 (T3SS2α,T3SS2β)and systematic functional gene (toxRS/new,orf8) for pandemic 03∶ K6 clone and its derivatives.The genetic features of these strains were determined by multilocus sequence typing (MLST).Results 96% (146/152) VP harbored tdh gene,2% (3/152) VP harbored trh gene and 100% (152/152) VP harbored T3SS2 gene.In this study there were 107 pandemic strains (both tdh and toxRS/new positive and trh negative),38 pathogenic strains (tdh positive and/or trh positive) and 6 nonpathogenic strains (both tdh and trh negative).All nonpathogenic strains harbored systematic functional gene (toxRS/new,orf8).Only one pathogenic strains harbored orf8 gene.One clone harbored all virulence gene.In this study there were 16 sequence types,and ST3 is the pandemic sequence type,including 113 strains,and four new sequence types were found.Conclusions In this study more than 90% Vibrio haemolyticus harbored tdh gene and ST3 was the pandemic sequence type in Beijing.One can get bacterial pathogenic charateristic and population genetics information by virulence gene testing and MLST.

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