Analysis of beta-globin gene variants in Liuzhou area of Guangxi / 中华医学遗传学杂志

OBJECTIVE@#To determine the composition and distribution of beta-thalassemia-associated genotypes in Liuzhou area of Guangxi, China.@*METHODS@#From January to December 2017, 13 847 individuals who came for premarital examination, maternity examination or health check were recruited with informed consent. The subjects were analyzed by reverse dot blotting (RDB) for 17 common beta-thalassemia-associated variants among the Chinese population. Individuals with inconsistent results by blood test, electrophoresis, and RDB were subjected to Sanger sequencing to detect rare variants of the beta globin gene.@*RESULTS@#In total 2098 individuals were found to harbor beta-thalassemia-associated variants, which included 2075 heterozygotes (98.90%), 12 compound heterozygotes (0.57%) and 11 homozygotes (0.52%). CD41-42 (48.43%) and CD17 (31.45%) were the most common variants. Three hundred and thirty eight-individuals were found to also carry heterozygous variants of the alpha globin gene, with the most common types being --SEA/aa, -a3.7/aa, aCSa/aa, -a4.2/aa. Through Sanger sequencing, rare genotypes such as beta-32/betaN, betaCD41-42/betaIVS-II-5 and betaCD30/betaN were detected.@*CONCLUSION@#Liuzhou area has a high incidence of beta-thalassemia, but with a complex variant spectrum and clinical phenotypes different from other regions. Genetic counseling and prenatal diagnosis for the carrier population is crucial for the reduction of the related birth defects. Our result may provide valuable information for the prevention and control of beta-thalassemia in this area.

Construction of human YPEL5 gene eukaryotic expression vector and its expression in esophageal carcinoma cells / 国际检验医学杂志

Objective To construct human yippee-like 5(YPEL5) gene eukaryotic expression recombinant plasmid and to express in esophageal carcinoma EC9706 cells .Methods The cDNA from human normal tissue was taken as a template and amplified to YPEL5 gene coding sequence with 366 bp in length .Then this se-quence was inserted into the multiple cloning site areas of eukaryotic expression vector pCDH-CD513B for ob-taining the eukaryotic expression vector pCDH-CD513B-Flag-YPEL5 .After the bacterial colony PCR identifi-cation ,it was sent to the corporation for testing the sequence .The successfully constructed recombinant plas-mid was transfected into human esophageal carcinoma EC9706 cells .The expression of PEL5 gene in EC9706 cells was detected by QRT-PCR and Western Blot .Results The YPEL5 gene segment with 366 bp in length was successfully amplified .pCDH-CD513B-Flag-YPEL5 recombinant plasmid was obtained by double enzyme digestion ,connection ,conversion and screening .The gene sequencing identification showed that the inserted gene sequence in recombinant plasmid was consistent with that in the GenBank .After 2 d of transfecting into EC9706 cells ,the QRT-PCR and Western Blot revealed that YPEL5 gene expression was significantly up-reg-ulated .Conclusion The pCDH-CD513B-Flag-YPEL5 eukaryotic expression vector is successfully constructed and is expressed in esophageal squamous cancer cell line EC9706 ,thus which lays a foundation for studying its function in the progression of esophageal cancer .

Effect of metformin on the expression of heat shock protein and VEGF in 5637 cell line of bladder cancer / 中国生化药物杂志

Objective To analysis the effect of metformin on the expression of heat shock protein and VEGF in 5637 cell line of bladder cancer. Methods 5637 cell line of bladder cancer were selected, divided into blank control group, metformin 2 mM group, 5 mM group, 10 mM group and 20 mM group, 5637 cell line of bladder cancer were treated in each group.The cell proliferation inhibition rate was detected by MTT colorimetric assay, cell clone formation rate was detected by plate clone formation test, flow cytometry was used to detect cell cycle change, the expression levels of HSP-70, HSP-90α, VEGF were detected by Western blot method.Results Compared with control group, the inhibition rate of 5637 cell line of bladder cancer after 24, 48, 72 h were higher in all concentrations of metformin group(P<0.05), the higher the concentration and the longer the action time, the stronger inhibitory effect on cell proliferation.Compared with control group, the clone formation rate of 5637 cell line of bladder cancer in all concentrations of metformin group was lower, the difference was statistically significant(P<0.05).Compared with control group, the proportion of G1 phase cells were higher, the proportion of S phase cells were lower in in all concentrations of metformin group (P<0.05), the proportion of G2 phase cells in metformin 2 mM group, 5 mM group were lower(P<0.05).Compared with control group, the expression levels of HSP-70, HSP-90α, VEGF protein were lower in all concentrations of metformin group, the difference was statistically significant(P <0.05).Conclusion Metformin has obvious inhibitory effects on the expression of HSP-70, HSP-90α, VEGF in 5637 cell line of bladder cancer, can inhibit cell proliferation and cloning, promote the occurrence of G1 block, cause cell apoptosis, the effect was dose dependent.

Relationship between Gait Speed and Muscle Strength of Lower Extremities or Physical Functional Tests / 中国康复理论与实践

Objective To explore the relevance between gait speed and muscle strength of lower extremities, or several kinds of physical functional tests. Methods 341 community-dwelling individuals (160 males, 181 females) aged 65-94 years were selected. They were divid-ed into suspected sarcopenia group (n=137) and normal group (n=204) by their gait speed less or more than 0.8 m/s. It was compared be-tween both groups with the basic physical characteristics, strength of iliopsoas, quadriceps, hamstrings and tibialis anterior, and the scores of One Leg Standing Test, Berg Balance Scale, Functional Gait Assessment, Functional Stretch Test and Timed Up and Go Test. Results The subjects were older in the suspected sarcopenia group than in the normal group. The difference of body weight, height were not statistically significant between groups. The strength of the muscles in bilateral lower limbs was not significantly different between both groups (P>0.05), while the gait speed positively correlated with the strength of iliopsoas, quadriceps and hamstrings (r=0.121-0.227, P0.05). Gait speed positively correlated with the scores of One Leg Standing Test, Berg Balance Scale, Functional Gait Assessment, Functional Stretch Test (P<0.05), and negatively correlated with the score of Timed Up and Go Test (r=-0.502, P<0.001). The scores of all the tests were significantly different between 2 groups (P<0.05), except that of Functional Stretch Test (P=0.28). Conclu-sion Sarcopenia diagnosis is not only depended on the strength of muscle of lower extremity, but also their functions.

Clinical evaluation of a melting curve analysis-based PCR assay for glucose phosphate dehydrogenase gene mutation detection / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To evaluate the clinical value of multicolor melting curve analysis(MMCA) for detecting genetic mutations in G6PD deficiency.</p><p><b>METHODS</b>A total of 402 peripheral blood samples(256 males and 146 females) were collected from suspected patients or their relatives at the Prenatal Diagnosis Center of Liuzhou Maternal and Child Health Hospital between March 2012 and May 2012. The samples were screened by G6PD/6PGD quantitative ratio testing. The reliability of the assay was evaluated by multiplex probe melting curve assay(which can detect 16 G6PD mutations) and DNA sequencing through a double blind study.</p><p><b>RESULTS</b>One hundred seventy cases with G6PD/6PGD ratio < 1.0 and 232 cases with G6PD/6PGD ratio ≥ 1.0 were detected by the enzymological method. DNA sequencing has identified 182 wild type samples, 151 hemizygous mutation samples, 5 female homozygous mutation samples, 54 female heterozygous mutation samples and 10 female double heterozygous mutation samples. Multicolor melting curve analysis has detected 185 wild type samples, 148 hemizygous mutation samples, 5 female homozygous mutation samples, 55 female heterozygous mutation samples and 9 female double heterozygous mutation samples. The specificity and sensitivity of G6PD gene mutation detection by multicolor melting curve analysis were 100%(182/182) and 98.6%(217/220), respectively. The positive predictive value and negative predictive value were 99.5%(216/217) and 98.4%(182/185), respectively, and the Youden's index was 0.986. The concordance rate of the sample detection between the melting curve assay and DNA sequencing was 99.0%(398/402). Twenty-one different genotypes were detected by the multicolor melting curve analysis and 24 different genotypes were detected by DNA sequencing. Four samples containing mutations(c.196T>A or c.406C>T) were not detected by multicolor melting curve analysis, which can be attributed to different technical settings of the two methods.</p><p><b>CONCLUSION</b>Multicolor melting curve analysis for G6PD gene mutation detection is a simple, rapid, sensitive and specific method, which can be used for clinical diagnosis of G6PD deficiency.</p>

Accommodation Quotient for Dysphagia Evaluation in Elderly / 中国康复理论与实践

@#Objective To determine the value of accommodation quotient (AQ) on dysphagia evaluation in the elderly. Methods 40 old cases with dysphagia were assessed with AQ, Kubota Water Swallow Test (WST) and Swallowing Evaluation (SE) before and after 3 weeks of treatment. The patients were divided into 2 groups based on the first AQ assessment: mild group (AQ=1.5~2.5) and serious group (AQ< 1.5). Results There was not significant difference in scores of WST between both groups (P>0.05) but SE (P<0.05). The AQ before treatment moderately correlated with the scores of WST and SE before treatment and improvement (P<0.001), and SE after treatment (P<0.001), but did not correlate with the score of WST after treatment (P>0.05). Conclusion The AQ may indicate the function of swallowing in the elderly, and predict the outcome of dysphagia.

Nurses' practice of 5A's smoking cessation intervention in clinical settings of Beijing / 中国实用护理杂志

Objective To identify nurses' practice of 5A's smoking cessation intervention in clinical settings of Beijing.Methods A cross-sectional survey was conducted among 248 nurses by convenient sampling.The questionnaire included the frequency of nurses' practice of 5A's intervention and its influencing factors,nurses' self evaluation of competency,and tobacco-related curricula in school of nursing.Results Most nurses implemented “advice” and “evaluated the patients' smoking history and current status” more frequently,but nurses' practice of other interventions was dissatisfactory.The belief that smokers could benefit from quitting was facilitating,however the barriers included no motivations to quit smoking,heavy work,and the belief that helping smokers to quit is not the priority in nursing routine.The nurses got insufficient knowledge about smoking cessation through school education and in-service training (12.8％).Conclusions There's a big gap between the implementation of nurses' smoking cessation intervention,accepted smoking cessation education,smoking cessation intervention competency and the urgent demands to help patients quit smoking.

The evaluation of a melting curve analysis-based PCR assay for the clinical genetic diagnosis and prenatal diagnosis of β-thalassemia / 中华检验医学杂志

ObjectivesTo investigate the clinical value of the melting curve analysis-based PCR assay for the clinical genetic diagnosis and prenatal diagnosis of β-thalassemia.Methods A total of 451 peripheral blood samples,including 372 cases with β-thalassemia phenotypes and 79 cases without β-thalassemia phenotypes,were collected by Liuzhou Municipal Maternity and Child Healthcare Hospital between January 2011 and August 2011.Moreover,another 84 cases,including 16 fetal villi samples (10 - 13 weeks),64 amniotic fluid samples (16 -24 weeks ) and 4 umbilical cord blood samples (above 17 weeks),whose parents were β-thalassemia carriers,were also collected for this assay between June 2011 and September 2011.A double-blind test was done to compare the detection reliability of the melting curve analysis-based assay (24 β-thalassemia mutations can be detected) with PCR-RDB probe assay (17 β-thalassemia mutations can be detected ) and DNA sequencing using these samples.The wildtype,mutant and total concordance rates of the genotyping results were calculated separately among the melting curve analysis based assay,PCR-RDB probe assay and DNA sequencing.Results Among the 451 peripheral blood samples,thirteen mutations and nineteen genotypes were obtained by using melting curve analysis-based assay.447 samples had the same detection results and 4 samples had different detection results by comparing melting curve analysis-based assay with PCR-RDB probe assay,thus,the concordance rate of the sample detection result was 99.1％ (447/451),and the concordance rate of the allele detection result was 99.6％ (898/902).DNA sequencing results of the 4 samples showed that 3 samples had the same genotyping result with melting curve analysis-based assay,and 1 sample had the same genotyping result with PCR-RDB probe assay.A rare β-globin mutation which was not included by melting curve analysis-based assay was not detected.Thus,the genotypes of 450 samples were detected accurately by melting curve analysis-based assay,and the concordance rate of the sample detection between the melting curve assay and DNA sequencing assay was 99.8％ (450/451).Among 84 fetal villi,amniotic fluid,and umbilical cord blood samples,8 mutation types and 18 genotypes were obtained by using melting curve analysis-based assay.All the samples have the same detection results by comparing melting curve analysis-based assay with PCR-RDB probe assay and DNA sequencing,so the concordance rate of the genotyping results was 100％ among the melting curve analysis-based assay,PCR-RDB probe assay and DNA sequencing.Conclusions The melting curve analysis-based PCR assay can detect multiple unknown samples simultaneously,and detect multiple mutations accurately.It is very useful for the genetic diagnosis and prenatal diagnosis of β-thalassemia.

Quantitative Assessment and Age-related Analysis of Static Equilibrium in Elderly Individuals / 中国康复理论与实践

@#ObjectiveTo determine the static equilibrium of elderly individuals over the age of 60 and the correlation to the age. Methods142 elderly subjects (60～95 years old) were divided into 7 groups: 60～65 years old group, 66～70 years old group, 71～75 years old group, 76～80 years old group, 81～85 years old group, 86～90 years group, and >90 years old group, 24 cases 18～30 years old as the control. The static equilibrium was examined by measuring the stability index （ST） and the spectrum analysis of postural sway under following 4 conditions: standing on solid surface with eyes open （NO），standing on solid surface with eyes closed （NC）， standing on pillows with eyes open （PO）， and standing on pillows with eyes closed （PC） using Tetrax Balance System. ResultsThe ST and the intensity of postural sway increased in the elderly group compared with the control group. NO: there were significant differences (P<0.01) in ST, F1, F4, F6, F8 among the 81～85 years group, 86～90 years old group, >90 years old group and the control group. NC: there were significant differences (P<0.01) in ST, F1, F4 among all the elderly groups and the control group, and in F6, F8 among the >66 years groups and the control group（P<0.05）. PO: there were significant differences (P<0.01) in ST, F4, F6 among the >66 years old groups and the control group, and in F1, F8 among the >71 years old groups and the control group（P<0.05）. PC: there were significant differences (P<0.01) in ST, F4 among all the elderly groups and the control group, in F6 among the >66 years groups and the control group, in F8 among the >76 years old groups and the control group, and in F1 among the >80 years old groups and the control group（P<0.05）. The ST distributed as NOP<0.01）. There were similar changes in the intensity of postural sway of F1, F4, F6, F8 bands. ConclusionThere is the significant decline of the static equilibrium in the subjects aged 80 or over and no significant decline of the static equilibrium in the subjects aged 60～80 whose compensation in the static balance may decrease.

Age-related Analysis of Strength, Coordination and Reaction Time of Lower Extremity in Elderly / 中国康复理论与实践

@#Objective To explore the relationship between the somatosensory evoked potential (SEP) diversification during operation and the short term outcome of ossification of posterior longitudinal ligament (OPLL) of cervical spine. Methods 70 OPLL inpatients from February 2008 to February 2011were included in this study. All patients received anterior cervical operation. According to the diversification of the SEP during surgery, the patients were divided into 2 groups. The preoperative and postoperative JOA scores of the OPLL patients were collected. Results There were 35 patients in the SEP no change group and 30 in SEP improved group. There was no difference in the preoperative JOA scores between them (P>0.05), but was significantly different in the postoperative JOA scores (P>0.05). Conclusion There is some relationship between the SEP diversification during operation and the short term outcome of OPLL of cervical spine.

Test-retest Reliability of Tetrax Posturographic Balance Assessment System in Elderly / 中国康复理论与实践

@#Objective To assess the test-retest reliability of Tetrax posturographic balance assessment system in determining the balance function in elderly individuals. Methods 22 elderly subjects (66~84 years old) were measured with the stability index (ST), the spectrum analysis of postural sway and the weight distribution harmony between two foots or heels and toe parts in standing on solid surface with eyes open using Tetrax balance system. All tests were repeated 1 week after the initial test and each subject underwent the test under the same instructions and conditions. The intraclass correlation coefficients (ICC) were used to determine the test-retest reliability. Results ICC of all balance functional parameters ranged from 0.797~0.882 (P<0.01). Conclusion The posturographic balance assessment system has good test-retest reliability for determining the balance function in elderly people.

The test-retest reliability of a new measurement of lower extremity isometric muscle strength for patients with knee osteoarthritis / 中华物理医学与康复杂志

Objective To determine the test-retest reliability of functional squat system (FSS) isometric muscle strength tests for patients with knee osteoarthritis. Methods The isometric muscle strength of thirty patientswith knee osteoarthritis (21 males and 9 females; age 45 to 89 years, mean age 68.73 ± 12.19 years) was tested twice within 1 week by the same tester. Three test results were obtained: maximum isometric extension strength, the time to initiate isometric extension and the average isometric extension strength. Intra-class correlation coefficients (ICCs) for the three tests were computed to evaluate their retest reliability. Results The ICCs of the maximum isometric extension strength and average isometric extension strength of the uninvolved and involved extremities were respectively 0.87, 0.88, 0.92 and 0.89. The ICCs of the initiation time for the uninvolved and involved legs were respectively 0.25 and 0.41. Conclusion In these tests of patients with knee osteoarthritis using the functional squat system, both the maximum isometric extension strength and the average isometric extension strength had very good test-retest reliability. These two test results could be used as reliable guidance for treatment and rehabilitation of osteoarthritic knees.

Correlation between Lower Extremity Extensor Muscle Strength and Pain or Physical Function in Knee Osteoarthritis / 中国康复理论与实践

@# ObjectiveTo investigate the relationship of lower extremity muscle strength and the pain or physical function in patients with knee osteoarthritis. Methods25 patients with knee osteoarthritis diagnosed with have radiological and clinical data were assessed with Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) and isokinetic muscle strength testing. ResultsThe lower extremity extensor muscle strength correlated with WOMAC pain scores, WOMAC activity of daily life scores, and WOMAC total scores （P<0.05）. ConclusionThe lower extremity extensor muscle strength correlated with the pain and physical function in patients with knee osteoarthritis.

Effect of Vestibular Sense, Proprioception, and Vision on Fall Risk in Elderly / 中国康复理论与实践

@#ObjectiveTo assess the effect of the vestibular, visual, and somato-sensation on the fall risk in elderly individuals. Methods56 subjects aged 60 or over were measured with the static postural stability and fall risk, including stability index （ST）, the body weight distribution index (WDI) and the fall index (FI) under 4 conditions: standing on solid surface with eyes open （NO），standing on solid surface with eyes closed （NC）， standing on pillows with eyes open （PO），and standing on pillows with eyes closed （PC）. ResultsThe mean of fall index of all subjects was (48.21±26.47). The ST was different among groups, which was PC>PO>NC>NO （P=0.000），but no significant differences were noted between PO and NC groups （P=0.705）. The WDI was not significantly different among the 4 groups (P>0.05）. The FI was correlated with ST （P<0.05）, but not correlated with the WDI（P>0.05）. ConclusionAll of the vestibular, visual, and somato-sensory systems play an important role in the balance, postural stability and falls. The ST is sensitive to evaluate the static balance function and associated with the fall risk in an elderly population. The WDI is not sensitive enough to evaluate the static balance function and fall risk.

Risk Assessment and Intervention for Falls in Elderly (review) / 中国康复理论与实践

@#Falls occurring in populations of elder people are prevalent as dangerous public health events that can result in the considerable institutionalization or even postfall morbidity and mortality. The prevention and intervention of falls in the elderly are the important fields of geriatric rehabilitation medicine. This paper reviewed the literature related to the falls in the elderly, involving the conception, incidence, evaluation and identification of risk factors, and multiple-risk-factor intervention strategy, and indicates the further research direction.

Assessment of Inter-rater Reliability of Lequesne Index (Chinese Version) in Knee Osteoarthritis / 中国康复理论与实践

@#ObjectiveTo examine the the inter-rater reliability of the Chinese version of Lequesne index as the effective treatment evaluation of patients with knee osteoarthritis.Methods30 patients with radiological findings and clinical symptoms of knee osteoarthritis were evaluated the Chinese version of Lequesne index twice by two staff who passed the Lequesne index formal training within 24 hours. Inter-rater reliability was assessed by the intra-class correlation coefficient (ICC) and the Bland & Altman method.ResultsInter-rater reliability was excellent with ICC=0.94. The Bland & Altman analysis revealed no systematic errors between inter-raters.ConclusionThe Chinese version of Lequesne index has high inter-rater reliability in subjects with knee osteoarthritis.

Test-retest Reliability of Lower Extremities Response Time in Patients with Knee Osteoarthritis / 中国康复理论与实践

@#ObjectiveTo determine the test-retest reliability of lower extremities response time of functional squat system tests in patients with knee osteoarthritis.MethodsThirty patients who met the inclusion criteria of knee osteoarthritis were carried out lower extremities response time measurement twice within 1 week by the same tester. Intra-class correlation coefficients with 95% confidence intervals was calculated.ResultsThe intra-class correlation coefficient of the total response time and the reaction time ranged from 0-44 to 0-62 (P<0-05 or P<0-001). ConclusionLower extremities response time of functional squat system tests has an acceptable test-retest reliability in patients with knee osteoarthritis. It can better reflect their reaction capability and can appropriately reflect the adaptation and plasticity of lower extremities muscles' desired action to meet stimulation in patients with knee osteoarthritis.

Utilization of Narcotic Analgesics in Patients with Cancerous Pain in Our Hospital in 2004～2007 / 中国药房

OBJECTIVE:To investigate the utilization of narcotic analgesics in patients with cancerous pain in our hospital. METHODS:The consumption of Morphine and Pethidine in our hospital in 2004～2007 was analyzed statistically. RESULTS:The consumption quantity of Morphine sulfate controlled-release tablets has been on the rise from 2004 to 2007,while that of Morphine Hydrochloride Injection experienced little change and that of Pethidine Hydrochloride Injection showed a downward trend. CONCLUSION:The structure for the use of narcotic analgesics in our hospital tends to be reasonable,which is basically in line with the Guiding Principle of Pain Relief Ladder for Cancer Pain.

Clinical Observation of Rectal Administration of Morphine Sulfate Controlled-release Tablets for Terminal Cancerous Pain / 中国药房

0.05),but the rectal administration showed a quicker response in pain-relieving than the oral administration of Morphine Sulfate Controlled-release tablets(P

Measurement Uncertainty Evaluation of Automatic Verification Device for Laser Protective Spectacles / 医疗卫生装备

Objective To test and evaluate measurement uncertainty and relational performance parameters of the verification device for laser protective spectacles.Methods By using realtime beam-splitting surveillance,several performance parameters,including the measurement repeatability of the verification device,optical density of laser protective spectacles in different laser exposure conditions and its damage threshold,were tested.The measurement modules of the main performance parameters were built up as the experiment & technology platform for performance evaluation of laser protective spectacles and for measurement uncertainty appraisal of verification device.Results Laser wavelengths of the verification device were 1064nm and 532nm,response range of wavelength was from 0.4?m to 1.1?m,measuring range of laser energy was from 10-8 J to 0.3J,measuring range of optical density for laser protective spectacles was from 0.1 to 8.0,measuring repeatability was 0.37%,and measuring uncertainty was 5% (k =2).Conclusion The automatic verification device is steady and reliable.The achieved performance indexes accord with the designed requirement for laser protection.