1.Detection of JAK2 V617F mutation by real-time PCR
Xinju ZHANG ; Xiaoye GU ; Shuangchun LIU ; Weizhe MA ; Ming GUAN
Chinese Journal of Laboratory Medicine 2009;32(5):583-586
Objective To establish real-time PCR method for the detection of JAK2 V617F mutation and evaluate its clinical significance in patients with myeloprollferative disorders and leukemia.Methods 71 chronic myelocytic leukemia(CML) patients, 22 essential thrombocythemia (ET) patients, 11 primary myelofibrosis (PMF) patients, 9 polycythemia vera (PV) patients and 7 cosinophilia patients were enrolled in this study. JAK2 V617F mutation was determined by real-time PCR and amplification refractory mutation system (ARMS), followed by sequencing. Human erythroleukemia cell (HEL cell)DNA was used as homozygous control of JAK2 V617F mutation. The detection limit for either real-time PCR or ARMS was evaluated. Results Real-time PCR assay showed that there was a melting temperature(Tin) peak at (75.0±0.2)℃ for wild type samples and a Tm peak at (76.6±0.2)℃ for mutation type samples. JAK2 V617F mutation was detected in 8(88.9%) patients with PV, 12(54.5%) patients with ET and 7(63.6%) patients with PMF respectively. But there was only one positive case in 71 CML patient (1.4%). The results showed complete concordance with ARMS results and confirmed by sequencing. The mutation could be detected in 102 HEL cells per 106 white blood cells by real-time PCR, whereas the mutation can be assessed in 104 HEL cells per 106 white blood cells by ARMS. Thus, the sensitivity of real-time PCR was 100-fold higher than ARMS. Conclusions The real-time PCR method is successfully established for detection of JAK2 V617F mutation. This method is more sensitive, convenient than ARMS, and suitable for clinical application. There is high frequency of JAK2 V617F mutation in myeloproliferative disorders and it could be used as the diagnostic marker for myeloproliferative disorders.
2.Effect of Acupuncture and Moxibustion on the Quality of Life in Patients with Osteoporotic Vertebral Body Compression ;Fractures
Jinlian YANG ; Shuangchun AI ; Jiang LIU ; Zugang ZHOU ; Hong LI
Shanghai Journal of Acupuncture and Moxibustion 2016;35(10):1229-1232
Objective To investigate the effect of meridian-warming and unblocking acupuncture and moxibustion on the quality of life in patients with osteoporotic vertebral body compression fractures. Method Two hundred and eighty patients meeting the criteria of osteoporotic vertebral body compression fractures were enrolled and randomly allocated to treatment and control groups. The treatment group received meridian-warming and unblocking acupuncture and moxibustion and the control group, complex treatment of Western medicine. The Visual Analogue Scale (0-10 marks) score and the SF-36 score were recorded before and after treatment. The clinical therapeutic effects were evaluated. Result The pain score was decreased, the SF-36 score was increased and the clinical therapeutic effect was improved more in the treatment group than in the control group (P<0.05). Conclusion Meridian-warming and unblocking acupuncture and moxibustion helps to relieve the pain and improve the quality of life in osteoporosis patients.
3.The determination of a new single nucleotid polymorphism intron 5 (+4668) with high-resolution melting technology in gout patients
Shuangchun LIU ; Ming GUAN ; Yuming CHEN ; Jiong ZHANG ; Xinju ZHANG ; Xiaoye GU ; Weizhe MA ; Hejian ZOU
Chinese Journal of Rheumatology 2010;14(6):377-380
Objective To investigate a new single nucleotid polymorphism (SNP) intron5(+4668C/T) in SLC22A12 in primary gout patients and the association between clinical characteristics and genotypes. Methods One hundred and one primary gout patients and 186 healthy subjects were recruited into this study. Blood pressure, body mass index (BMI) was recorded. Serum uric acid, glucose, lipid and creatinine were detected. DNA was extracted from peripheral blood to amplify the fragment located in intron 5. The genotypes of SLC22A12 can be detected with high-resolution melting (HRM) assay, followed by sequencing analysis. Chi-square test was used for statistical analysis. Results ① A new SNP in intron 5 of SLC22A12 was identi-fied successfully by HRM, which was defined as intron 5 (+4668C/T). CC, CT and TT genotypes were unam-biguously distinguished with HRM technology, which was fully concordant with sequencing. ②The genotypes of CC, CT and TT in male and female groups were 28.1%, 33.7%, 38.2% and 20.0%, 47.1%, 32.9%, respectively.③ However, no significant differences of genotype distribution were found concerning BMI, blood pressure, creatinine, total cholesterol and triglyceride in both male group and female group. But the serum uric acid levels in the CC genotype were significantly higher than those with the CT+TT genotypes. ④ The genotype frequencies of CC and CT+TT in high uric acid group were remarkably different from those in low uric acid group (21.2%, 78.8%,; 35.0%, 65.0%; P<0.05). Conclusion A new SNP has been successfully discovered with HRM technology with simplicity, rapidity and accuracy. T allele of intron 5 (+4668C/T) may be a genetic protective factor for hyperuricemia among Chinese population.
4.Applying ICF Framework to Explore the Factors That Influence Quality of Life in Patients After Lung Surgery
Xinping LI ; Yi CHEN ; Shuangchun LIU ; Mingsheng ZHANG
Annals of Rehabilitation Medicine 2024;48(2):155-162
Objective:
To explore the relationship between pulmonary function, physical activity, and health-related quality of life (QoL) in resected lung cancer patients based on the International Classification of Functioning, Disability, and Health (ICF) framework developed by the World Health Organization to describe health and health-related states.
Methods:
A quantitative study was designed with postoperative lung cancer survivors to assess personal characteristics. We also assessed functional impairment related to the lung using forced vital capacity (FVC) and forced expiratory volume at 1 second (FEV1), activity limitations using maximal oxygen consumption (VO2max), anaerobic threshold (AT) and 6-minute walking distance (6MWD), and participation restriction using the 36-item Short Form Health Survey V1 (SF-36). Data analyses were conducted using the multivariate method and Smart- PLS to examine path coefficient among the measures.
Results:
Forty-one patients were enrolled in this study. FVC and FEV1 were poorly correlated with QoL, and 6MWD, AT, or VO2max were positively associated with QoL. AT or VO2max showed a significant (p<0.01) direct path with SF-36 in the ICF model. Although age and body mass index were not strongly correlated with QoL, these personal factors had a medium to large effect on perceived QoL.
Conclusion
Disability is a complex in patients with lung resection, and physical activity plays an important role in enabling participation. Improving VO2max and AT is needed to improve the QoL of resected lung cancer patients. We should also pay more attention to contextual factors that have a significant impact on social participation.