1.Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China.
Hui XI ; Qin LIU ; Dong Hua XIE ; Xu ZHOU ; Wang Lan TANG ; De Guo TANG ; Chun Yan ZENG ; Qiong WANG ; Xing Hui NIE ; Jin Ping PENG ; Xiao Ya GAO ; Hong Liang WU ; Hao Qing ZHANG ; Li QIU ; Zong Hui FENG ; Shu Yuan WANG ; Shu Xiang ZHOU ; Jun HE ; Shi Hao ZHOU ; Fa Qun ZHOU ; Jun Qing ZHENG ; Shun Yao WANG ; Shi Ping CHEN ; Zhi Fen ZHENG ; Xiao Yuan MA ; Jun Qun FANG ; Chang Biao LIANG ; Hua WANG
Biomedical and Environmental Sciences 2023;36(2):127-134
OBJECTIVE:
This study was aimed at investigating the carrier rate of, and molecular variation in, α- and β-globin gene mutations in Hunan Province.
METHODS:
We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province. Hematological screening was performed, and molecular parameters were assessed.
RESULTS:
The overall carrier rate of thalassemia was 7.1%, including 4.83% for α-thalassemia, 2.15% for β-thalassemia, and 0.12% for both α- and β-thalassemia. The highest carrier rate of thalassemia was in Yongzhou (14.57%). The most abundant genotype of α-thalassemia and β-thalassemia was -α 3.7/αα (50.23%) and β IVS-II-654/β N (28.23%), respectively. Four α-globin mutations [CD108 (ACC>AAC), CAP +29 (G>C), Hb Agrinio and Hb Cervantes] and six β-globin mutations [CAP +8 (C>T), IVS-II-848 (C>T), -56 (G>C), beta nt-77 (G>C), codon 20/21 (-TGGA) and Hb Knossos] had not previously been identified in China. Furthermore, this study provides the first report of the carrier rates of abnormal hemoglobin variants and α-globin triplication in Hunan Province, which were 0.49% and 1.99%, respectively.
CONCLUSION
Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population. The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.
Humans
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beta-Thalassemia/genetics*
;
alpha-Thalassemia/genetics*
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Hemoglobinopathies/genetics*
;
China/epidemiology*
;
High-Throughput Nucleotide Sequencing
2.Research progress in atrial fibrillation with cerebral small vessel disease.
Ling JIN ; Yunhai LIU ; Qing HUANG
Journal of Central South University(Medical Sciences) 2022;47(2):258-264
Non-valvular atrial fibrillation is a common arrhythmia and a major risk factor for cardioembolic stroke. Small cerebral vascular disease is a syndrome of clinical, cognitive, imaging, and pathological manifestations caused by intracranial small vascular lesions. The imaging findings on cranial magnetic resonance usually shows recent subcortical small infarction, vascularised lacunae, white matter hypersignal, perivascular space enlargement, cerebral microhemorrhage, and brain atrophy. It is a major cause of neurological loss and cognitive function decline in the elderly. Current studies suggest that atrial fibrillation may increase the imaging load of cerebral small vessel disease through a series of mechanisms such as microembolization, hypoperfusion, inflammation, endothelial dysfunction, and lymphoid system dysfunction. The imaging of cerebral small vessel disease with atrial fibrillation has a potential relationship with cognitive function decline and is related to the occurrence and prognosis of stroke, even more has a potential role in suggesting the etiology and secondary prevention strategies of ischemic stroke.
Aged
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Atrial Fibrillation/epidemiology*
;
Cerebral Small Vessel Diseases/complications*
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Cognitive Dysfunction/etiology*
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Humans
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Magnetic Resonance Imaging
;
Stroke/etiology*
3.Development and reliability and validity test of Ulcerative colitis patient self-management Scale
Ruonan HOU ; Suhuan XU ; Xin DAN ; Changde JIN ; Hongwen MA
Chinese Journal of Practical Nursing 2020;36(29):2263-2267
Objective:To develop a self-management scale for patients with ulcerative colitis and test its reliability and validity,so as to provide a measurement tool for evaluating the self-management level of patients with ulcerative colitis in China.Methods:Guided by the theory of self-management, combined with extensive literature review and semi-structured interview results, the initial item pool was formed, and the initial questionnaire was formed through expert consultation. 324 cases of ulcerative colitis in a third-class Hospital of Tianjin were investigated by convenience sampling.Results:The self-management scale of ulcerative colitis patients included 4 dimensions and 23 items. The content validity of each item was between 0.867 and 1,and the content validity index of the scale was 0.860. Four factors were extracted by exploratory factor analysis,and the cumulative variance contribution rate of variance was 66.395%. The Cronbachs coefficient of overall scale was 0.937,while four dimensions was between 0.820 and 0.916. The retest reliability of the scale was 0.934 ( P<0.01) and the retest reliability of each dimension was between 0.914 and 0.950 ( P<0.01). Conclusions:The self-management scale of patients with ulcerative colitis has been developed. The scale includes four dimensions: disease treatment management,daily life management,psychosocial management and disease information management. It has 23 items in total and has good reliability and validity. It can be used to evaluate the self-management level of patients with ulcerative colitis.
4. Application of latissimus dorsi flap and thoracodorsal artery perforator flap in different wounds
Lianchu LI ; Muzhang XIAO ; Anjin LIU ; Hui JIN ; Wen ZHANG ; Zhengzheng MA ; Ningning TANG ; Xiaoyuan HUANG
Chinese Journal of Plastic Surgery 2019;35(3):269-273
Objective:
To explore the application and choice of latissimus dorsi musculocutaneous flap and thoracodorsal artery perforator flap in different wound repair.
Methods:
From March 2012 to February 2018, 8 cases of different wounds were repaired with island latissimus dorsi myocutaneous flap pedicled with dorsal thoracic artery, free latissimus dorsi myocutaneous flap, or thoracodorsal artery perforator flap combined with scapular flap. The patients includes 4 cases of trauma, 2 cases of tumor and 2 cases of osteomyelitis. Among them, 5 cases received pedicled grafting, 2 cases had anastomotic vascular free grafting combined with antibiotic bone cement chain bead, 1 case had thoracodorsal artery perforator flap combined with scapular flap.
Results:
All 9 flaps of 8 patients survived. The size of the flaps ranged from 22.0 cm×7.5 cm to 28.0 cm×21.0 cm. All the donor and recipient areas healed well. After 2 months to 2 years follow up, all flaps have good blood supply, and the limbs′ function was normal. The appearance of flaps were satisfactory, with fully treated osteomyelitis, and no recurrence of the tumor was observed.
Conclusions
According to wound characteristics, selective application of thoracodorsal artery perforator flap, pedicled or free latissimus dorsi myocutaneous flap is effective for the repair of muscle, skin and soft tissue defects, as well as osteomyelitis, after tumor resection.
5.Status quo and influencing factors of self-directed learning readiness in nursing undergraduates
Li'na MENG ; Xiaohong ZHANG ; Mengjie LEI ; Tingting LIU ; Changde JIN
Chinese Journal of Modern Nursing 2019;25(11):1347-1351
Objective? To explore the status quo and influencing factors of self-directed learning readiness in nursing undergraduates. Methods? Totally 500 full-time nursing undergraduates from Tianjin were selected using cluster sampling from March to July 2017 and investigated with the general information questionnaire, Self-directed Learning Readiness Scale for Nursing Education (SDLRS), Learning Attitude Questionnaire for Senior Nursing Students and Learning Self-efficacy Questionnaire. SPSS 21.0 was used to analyze the score and Pearson was used to analyze the correlation between self-directed learning readiness, learning attitude and learning self-efficacy. Multivariate linear regression analysis was used to analyze the influencing factors. Totally 500 questionnaires were distributed, and 429 valid questionnaires were collected. Results? The SDLRS score of the 429 nursing undergraduates totaled (149.99±15.73); the learning attitude score totaled (73.99±11.92); and the learning self-efficacy score totaled (76.26±8.17). Correlation analysis revealed that nursing undergraduates' self-directed learning readiness was positively correlated (P<0.01) with their learning attitude (r=0.466) and learning self-efficacy (r=0.657). Multivariate linear regression analysis showed that learning self-efficacy, learning attitude, love for nursing program and difficulty in after-class learning were the influencing factors for self-directed learning readiness in nursing undergraduates, which amounted to 48.2% of the accumulated variance of self-directed learning readiness. Conclusions? The self-directed learning readiness of nursing undergraduates remains at a medium level. Their self-directed learning readiness may be improved by further correcting their attitude towards learning, improving self-efficacy and using a proper teaching model.
6.Reliability and validity test of Chinese version of the Type 2 Diabetes Unsupportive Social Interaction Scale
Ming SANG ; Siqi XIONG ; Yaqian LIU ; Changde JIN
Chinese Journal of Modern Nursing 2019;25(23):2956-2960
Objective? To translate the Unsupportive Social Interaction Scale(USIS) into Chinese and evaluate its reliability and validity in patients with type 2 diabetes mellitus(T2DM). Methods? After obtaining authorization from the original authors, through translating, double-back translation and cross-cultural adaptation, the Chinese version of USIS was formed. By convenience sampling, 242 patients with T2DM in Department of Endocrinology, in a ClassⅢ Grade A hospital in Tianjin from October 2018 to January 2019 were selected and questionnaire survey was conducted to evaluate the reliability and validity of the Chinese version of USIS. Results? The Chinese version of USIS included two dimensions with 15 items. The cumulative contribution rate of two common factors was 60.63%. The Cronbach's α coefficient of the Chinese version of USIS was 0.854, the Cronbach's α coefficient of each dimension was 0.867, 0.922, and the retest reliability was 0.859. The correlation coefficient r between each item and the total score of the total table was 0.409-0.718. Item content validity index ranged from 0.800 to 1.000, and scale content validity was 0.960. The criterion-related validity with Perceived Social Support Scale was -0.743. Conclusions? The Chinese version of USIS has been proved to be valid and reliable and can be used to evaluate the unsupportive social interaction level among patients with type 2 diabetes.
7.Research progress of methods and evaLuation tooLs of transitionaL care among peritoneaL diaLysis patients
Yanqiu HUANG ; Huiping WANG ; Siqi XIONG ; Ming SANG ; Changde JIN
Chinese Journal of Modern Nursing 2019;25(7):921-924
PeritoneaL diaLysis is a successfuL renaL repLacement therapy for end-stage kidney faiLure patients. TransitionaL care can reduce the incidence of peritonitis of peritoneaL diaLysis patients and improve patients' quaLity of Life. This paper reviewed the methods and evaLuation tooLs of transitionaL care among peritoneaL diaLysis patients both here and abroad so as to provide a reference for hospitaLs and communities to spread transitionaL care of peritoneaL diaLysis patients.
8.Effects of heated gel mattress for prevention of hypothermia in preterm infants during intra-hospital transport: a Meta-analysis and trial sequential analysis
Yaqian LIU ; Tingting LIU ; Yufeng LI ; Lina MENG ; Siqi XIONG ; Lijia NI ; Changde JIN
Chinese Journal of Practical Nursing 2018;34(28):2236-2240,后插1
Objective To evaluate the efficacy and safety of heated gel mattress(HGM) for prevention of heat loss on preterm infants with hypothermia during the transport systematically and objectively. Methods Systematic searches on PubMed, EMBASE, Cochrane Library, Web of Science CBM,CNKI,Wanfang and VIP were performed for randomized controlled trials or quasi-randomized control trials which explored the effects of HGM on prevention of hypothermia in premature infants relative to conventional alternatives. Studies were screened according to inclusion and exclusion criteria,extracting data and assessing quality. Then, Meta-analysis and trial sequential analysis were performed by using RevMan 5.3 and TSA v0.9 software developed at the Copenhagen Clinical Trials Center in Denmark, independently. Results This systematic review included 10 studies which comprised 7 randomized controlled trials and 3 quasi-randomized control trials, encompassing 773 patients. The results of Meta-analysis showed that in HGM group admission temperature on neonatal intensive care unit (standardized mean difference was 0.63, 95% confidence interval was 0.40-0.87, P=0.00), incidence of hypothermia (relative risk was 0.73, 95% confidence interval was 0.57-0.93, P=0.01) and hyperthermia (relative risk was 1.82, 95% confidence interval was 1.31-2.54, P=0.00) compared with the control group had significantly statistical difference;however, there was no significant difference in admission temperature on EM or TWM group, mortality, sepsis, retinopathy of prematurity, intraventricular hemorrhage III/IV between two groups. TSA confirmed that the pooled results of admission temperature on NICU and hyperthermia were stable and reliable; but the combination of low-temperature incidence and mortality indicators suggested that the sample size was insufficient. Conclusions HGM is an effective rewarming intervention that can improve body temperature of hypothermic preterm infants during transport, reduce the incidence of hypothermia but not decrease the incidence of morbidity and complications. However, it is recommended that clinical monitoring of body temperature should be performed dynamically to decrease the potential risk of high fever and complications. In addition, due to the limitation of quantity and quality of included studies, its cost-effectiveness and far-reaching influence on long-term follow-up outcomes need further evaluation through clinical multicenter, large sample, high-quality research.
9.Effects of prone position ventilation in neonatal respiratory distress syndrome:a meta-analysis
Yufeng LI ; Yan WANG ; Chunlian CAI ; Meng YUE ; Yajing ZHANG ; Chuyun CUI ; Changde JIN
Chinese Journal of Nursing 2017;52(4):436-442
Objective To systematically evaluate the effects of prone position ventilation on newborn with respiratory distress syndrome.Methods We searched databases including PubMed,EMBASE,Cochrane Library,Web of Science,CBM,CNKI,Wanfang and VIP.We included all randomized controlled trials and randomized crossover trials of neonatal respiratory distress syndrome.Studies were selected according to inclusion and exclusion criteria,extracting data and assessing quality.Then RevMan 5.3 software was used to analyze the data.Results Ten studies included seven randomized controlled trials and three randomized crossover trials,and 500 patients were included.The results of meta-analysis showed that in prone position ventilation group SaO2[MD=2.41,95%CI(0.87,3.95),P=0.002],PaO2[MD=5.20,95%CI(3.04,7.36),P<0.001],Pa2//FiO2[MD=24.40,95%CI(8.35,40.44),P=0.003],the risk of pneumothorax [RR =0.10,95% CI (0.01,0.76),P=0.03] and intracranial hemorrhage [RR =0.41,95% CI (0.20,0.83),P=0.01]and duration of mechanical ventilation [MD=-23.22,95%CI(-38.30,-8.14),P=0.003] compared with supine positiongroup had significantly statistical difference;however there was no significant difference in ventilator-associated pneumonia[RR=0.72,95%CI(0.48,1.09),P=0.12] between two groups.Conclusion Prone position ventilation is effective to improve SaO2,PaO2 and PaO2/FiO2,shorten duration of mechanical ventilation and reduce the risk of pneumothorax and intracranial hemorrhage in newborn with respiratory distress syndrome.While it could not effectively reduce incidence of ventilator-associated pneumonia.Due to the limitations of the quality of studies included,multi-centered randomized controlled trials with large sample size are needed in the future to evaluate the effects of prone position ventilation on neonatal respiratory distress syndrome.
10.The reliability and validity of Chinese version of Nursing Profession Self-Efficacy Scale
Yajing ZHANG ; Yufeng LI ; Chuyun CUI ; Wenjing SONG ; Changde JIN
Chinese Journal of Practical Nursing 2017;33(22):1728-1731
Objective To translate the English version of the Nursing Profession Self-Efficacy Scale into Chinese,and to test the reliability and validity of the Chinese version. Methods The reliability and validity of the Chinese version of scale was tested among 480 nurses from Tianjin First Central Hospital. Results The revised Chinese version of the Nursing Professional Self-Efficacy Scale contained 19 entries, the Cronbach′s α coefficient was 0.95, the test-retest reliability was 0.91. Conclusions The revised Chinese version of the Nursing Profession Self-Efficacy Scale has acceptable reliability and validity. It can be used to measure the Nursing Profession Self-Efficacy among nurses in China.

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