1.Comparison of the effects of three time series models in predicting the trend of erythrocyte blood demand
Yajuan QIU ; Jianping ZHANG ; Jia LUO ; Peilin LI ; Mengzhuo LUO ; Qiongying LI ; Ge LIU ; Qing LEI ; Kai LIAO
Chinese Journal of Blood Transfusion 2025;38(2):257-262
[Objective] To analyse and predict the tendencies of using erythrocyte blood in Changsha based on the autoregressive integrated moving average (ARIMA) model, long short-term memory (LSTM) and ARIMA-LSTM combination model, so as to provide reliable basis for designing a feasible and effective blood inventory management strategy. [Methods] The data of erythrocyte usage from hospitals in Changsha between January 2012 and December 2023 were collected, and ARIMA model, LSTM model and ARIMA-LSTM combination model were established. The actual erythrocyte consumption from January to May 2024 were used to assess and verify the prediction effect of the models. The extrapolation prediction accuracy of the models were tested using two evaluation indicators: mean absolute percentage error (MAPE) and root mean square error (RMSE), and then the prediction performance of the model was compared. [Results] The RMSE of LSTM model, optimal model ARIMA(1,1,1)(1,1,1)12 and ARIMA-LSTM combination model were respectively 5 206.66, 3 096.43 and 2 745.75, and the MAPE were 18.78%,11.54% and 9.76% respectively, which indicated that the ARIMA-LSTM combination model was more accurate than the ARIMA model and LSTM model, and the prediction results was basically consistent with the actual situation. [Conclusion] The ARIMA-LSTM model can better predict the clinical erythrocyte consumption in Changsha in the short term.
2.Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients (version 2024)
Yao LU ; Yang LI ; Leiying ZHANG ; Hao TANG ; Huidan JING ; Yaoli WANG ; Xiangzhi JIA ; Li BA ; Maohong BIAN ; Dan CAI ; Hui CAI ; Xiaohong CAI ; Zhanshan ZHA ; Bingyu CHEN ; Daqing CHEN ; Feng CHEN ; Guoan CHEN ; Haiming CHEN ; Jing CHEN ; Min CHEN ; Qing CHEN ; Shu CHEN ; Xi CHEN ; Jinfeng CHENG ; Xiaoling CHU ; Hongwang CUI ; Xin CUI ; Zhen DA ; Ying DAI ; Surong DENG ; Weiqun DONG ; Weimin FAN ; Ke FENG ; Danhui FU ; Yongshui FU ; Qi FU ; Xuemei FU ; Jia GAN ; Xinyu GAN ; Wei GAO ; Huaizheng GONG ; Rong GUI ; Geng GUO ; Ning HAN ; Yiwen HAO ; Wubing HE ; Qiang HONG ; Ruiqin HOU ; Wei HOU ; Jie HU ; Peiyang HU ; Xi HU ; Xiaoyu HU ; Guangbin HUANG ; Jie HUANG ; Xiangyan HUANG ; Yuanshuai HUANG ; Shouyong HUN ; Xuebing JIANG ; Ping JIN ; Dong LAI ; Aiping LE ; Hongmei LI ; Bijuan LI ; Cuiying LI ; Daihong LI ; Haihong LI ; He LI ; Hui LI ; Jianping LI ; Ning LI ; Xiying LI ; Xiangmin LI ; Xiaofei LI ; Xiaojuan LI ; Zhiqiang LI ; Zhongjun LI ; Zunyan LI ; Huaqin LIANG ; Xiaohua LIANG ; Dongfa LIAO ; Qun LIAO ; Yan LIAO ; Jiajin LIN ; Chunxia LIU ; Fenghua LIU ; Peixian LIU ; Tiemei LIU ; Xiaoxin LIU ; Zhiwei LIU ; Zhongdi LIU ; Hua LU ; Jianfeng LUAN ; Jianjun LUO ; Qun LUO ; Dingfeng LYU ; Qi LYU ; Xianping LYU ; Aijun MA ; Liqiang MA ; Shuxuan MA ; Xainjun MA ; Xiaogang MA ; Xiaoli MA ; Guoqing MAO ; Shijie MU ; Shaolin NIE ; Shujuan OUYANG ; Xilin OUYANG ; Chunqiu PAN ; Jian PAN ; Xiaohua PAN ; Lei PENG ; Tao PENG ; Baohua QIAN ; Shu QIAO ; Li QIN ; Ying REN ; Zhaoqi REN ; Ruiming RONG ; Changshan SU ; Mingwei SUN ; Wenwu SUN ; Zhenwei SUN ; Haiping TANG ; Xiaofeng TANG ; Changjiu TANG ; Cuihua TAO ; Zhibin TIAN ; Juan WANG ; Baoyan WANG ; Chunyan WANG ; Gefei WANG ; Haiyan WANG ; Hongjie WANG ; Peng WANG ; Pengli WANG ; Qiushi WANG ; Xiaoning WANG ; Xinhua WANG ; Xuefeng WANG ; Yong WANG ; Yongjun WANG ; Yuanjie WANG ; Zhihua WANG ; Shaojun WEI ; Yaming WEI ; Jianbo WEN ; Jun WEN ; Jiang WU ; Jufeng WU ; Aijun XIA ; Fei XIA ; Rong XIA ; Jue XIE ; Yanchao XING ; Yan XIONG ; Feng XU ; Yongzhu XU ; Yongan XU ; Yonghe YAN ; Beizhan YAN ; Jiang YANG ; Jiangcun YANG ; Jun YANG ; Xinwen YANG ; Yongyi YANG ; Chunyan YAO ; Mingliang YE ; Changlin YIN ; Ming YIN ; Wen YIN ; Lianling YU ; Shuhong YU ; Zebo YU ; Yigang YU ; Anyong YU ; Hong YUAN ; Yi YUAN ; Chan ZHANG ; Jinjun ZHANG ; Jun ZHANG ; Kai ZHANG ; Leibing ZHANG ; Quan ZHANG ; Rongjiang ZHANG ; Sanming ZHANG ; Shengji ZHANG ; Shuo ZHANG ; Wei ZHANG ; Weidong ZHANG ; Xi ZHANG ; Xingwen ZHANG ; Guixi ZHANG ; Xiaojun ZHANG ; Guoqing ZHAO ; Jianpeng ZHAO ; Shuming ZHAO ; Beibei ZHENG ; Shangen ZHENG ; Huayou ZHOU ; Jicheng ZHOU ; Lihong ZHOU ; Mou ZHOU ; Xiaoyu ZHOU ; Xuelian ZHOU ; Yuan ZHOU ; Zheng ZHOU ; Zuhuang ZHOU ; Haiyan ZHU ; Peiyuan ZHU ; Changju ZHU ; Lili ZHU ; Zhengguo WANG ; Jianxin JIANG ; Deqing WANG ; Jiongcai LAN ; Quanli WANG ; Yang YU ; Lianyang ZHANG ; Aiqing WEN
Chinese Journal of Trauma 2024;40(10):865-881
Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.
3.Construction of a competency evaluation model for health managers based on grounded theory
LONG Xin ; WANG Xiaoxiao ; SI Jianping ; GUO Qing
Journal of Preventive Medicine 2023;35(10):856-860
Objective:
To construct a competency evaluation model for health managers based on the grounded theory, so as to provide insights into the training and evaluation of health managers.
Methods:
From December 2022 to March 2023, health managers with three years and more of working from health management center of a tertiary hospital, a health management enterprise and a university with a top-tier ranking for the major of "Health Services and Management" were invited, and a semi-structured interview on competency was conducted based on grounded theory. Coding techniques were applied to analyze the interview data, including open coding, axial coding, selective coding and theoretical saturation testing using NVivo12 software. Based on the coding results and drawing inspiration from McClelland's "Iceberg Competency Model Structure", a competency evaluation model for health managers was formulated.
Results:
Twenty-one health managers participated in the study, including 8 participants from the hospital, 7 participants from the enterprise and 6 participants from the university, 14 females, 17 participants with 3-10 years of working, and 6 participants with the rank of associate senior professional title or above. The interview yielded 5 main categories, from which the competency evaluation model for health managers was developed with five dimensions: professional development, health management capability, communication and coordination, humanistic care, and personal traits. professional development and health management capability constituted the overt competencies of health managers, while communication and coordination, humanistic care, and personal traits formed their implicit competencies.
Conclusions
The competency evaluation model for health managers constructed in this study includes explicit competency and implicit competency, which is expected to serve as a reference for the effective selection and cultivation of health managers.
4.Impact of different diagnostic criteria for assessing mild micro-hepatic encephalopathy in liver cirrhosis: an analysis based on a prospective, multicenter, real-world study
Xiaoyan LI ; Shanghao LIU ; Chuan LIU ; Hongmei ZU ; Xiaoqing GUO ; Huiling XIANG ; Yan HUANG ; Zhaolan YAN ; Yajing LI ; Jia SUN ; Ruixin SONG ; Junqing YAN ; Qing YE ; Fei LIU ; Lei HUANG ; Fanping MENG ; Xiaoning ZHANG ; Shaoqi YANG ; Shengjuan HU ; Jigang RUAN ; Yiling LI ; Ningning WANG ; Huipeng CUI ; Yanmeng WANG ; Chuang LEI ; Qinghai WANG ; Hongling TIAN ; Zhangshu QU ; Min YUAN ; Ruichun SHI ; Xiaoting YANG ; Dan JIN ; Dan SU ; Yijun LIU ; Ying CHEN ; Yuxiang XIA ; Yongzhong LI ; Qiaohua YANG ; Huai LI ; Xuelan ZHAO ; Zemin TIAN ; Hongji YU ; Xiaojuan ZHANG ; Chenxi WU ; Zhijian WU ; Shengqiang LI ; Qian SHEN ; Xuemei LIU ; Jianping HU ; Manqun WU ; Tong DANG ; Jing WANG ; Xianmei MENG ; Haiying WANG ; Zhenyu JIANG ; Yayuan LIU ; Ying LIU ; Suxuan QU ; Hong TAO ; Dongmei YAN ; Jun LIU ; Wei FU ; Jie YU ; Fusheng WANG ; Xiaolong QI ; Junliang FU
Chinese Journal of Hepatology 2023;31(9):961-968
Objective:To compare the differences in the prevalence of mild micro-hepatic encephalopathy (MHE) among patients with cirrhosis by using the psychometric hepatic encephalopathy score (PHES) and the Stroop smartphone application (Encephal App) test.Methods:This prospective, multi-center, real-world study was initiated by the National Clinical Medical Research Center for Infectious Diseases and the Portal Hypertension Alliance and registered with International ClinicalTrials.gov (NCT05140837). 354 cases of cirrhosis were enrolled in 19 hospitals across the country. PHES (including digital connection tests A and B, digital symbol tests, trajectory drawing tests, and serial management tests) and the Stroop test were conducted in all of them. PHES was differentiated using standard diagnostic criteria established by the two studies in China and South Korea. The Stroop test was evaluated based on the criteria of the research and development team. The impact of different diagnostic standards or methods on the incidence of MHE in patients with cirrhosis was analyzed. Data between groups were differentiated using the t-test, Mann-Whitney U test, and χ2 test. A kappa test was used to compare the consistency between groups. Results:After PHES, the prevalence of MHE among 354 cases of cirrhosis was 78.53% and 15.25%, respectively, based on Chinese research standards and Korean research normal value standards. However, the prevalence of MHE was 56.78% based on the Stroop test, and the differences in pairwise comparisons among the three groups were statistically significant (kappa = -0.064, P < 0.001). Stratified analysis revealed that the MHE prevalence in three groups of patients with Child-Pugh classes A, B, and C was 74.14%, 83.33%, and 88.24%, respectively, according to the normal value standards of Chinese researchers, while the MHE prevalence rates in three groups of patients with Child-Pugh classes A, B, and C were 8.29%, 23.53%, and 38.24%, respectively, according to the normal value standards of Korean researchers. Furthermore, the prevalence rates of MHE in the three groups of patients with Child-Pugh grades A, B, and C were 52.68%, 58.82%, and 73.53%, respectively, according to the Stroop test standard. However, among the results of each diagnostic standard, the prevalence of MHE showed an increasing trend with an increasing Child-Pugh grade. Further comparison demonstrated that the scores obtained by the number connection test A and the number symbol test were consistent according to the normal value standards of the two studies in China and South Korea ( Z = -0.982, -1.702; P = 0.326, 0.089), while the other three sub-tests had significant differences ( P < 0.001). Conclusion:The prevalence rate of MHE in the cirrhotic population is high, but the prevalence of MHE obtained by using different diagnostic criteria or methods varies greatly. Therefore, in line with the current changes in demographics and disease spectrum, it is necessary to enroll a larger sample size of a healthy population as a control. Moreover, the establishment of more reliable diagnostic scoring criteria will serve as a basis for obtaining accurate MHE incidence and formulating diagnosis and treatment strategies in cirrhotic populations.
5.Clinical effects and prognosis of radiotherapy for early cervical cancer patients with postoperative lymph node metastasis
Jianping MA ; Wenyan PAN ; Jianli HE ; Qing LU ; Ying MENG ; Yangyang FENG ; Zhoulan BAI
Chinese Journal of Radiological Medicine and Protection 2022;42(8):584-589
Objective:To retrospectively analyze the prognosis and related risk factors of lymph node metastasis in early-stage (Ⅰ B-Ⅱ A) cervical cancer patients with postoperative positive lymph nodes who were treated with intensity modulated radiotherapy (IMRT). Methods:A retrospective analysis was conducted for 292 early-stage cervical cancer patients with postoperative high and/or moderate risk factors who were treated with pelvic-abdominal IMRT with/without concurrent chemotherapy in Ningxia Medical University General Hospital from January 2016 to December 2018. These patients included 239 with negative pelvic lymph nodes and 53 with positive lymph nodes, who were incorporated into the negative group and the positive group, respectively. Multivariate and univariate analyses of the risk factors of lymph node metastasis and prognosis were performed for both groups.Results:The univariate and multivariate analyses showed that the lesion ≥4 cm, deep interstitial invasion, and the number of risk factors were independent factors influencing pelvic lymph node metastasis ( χ2 = 7.11, 9.05, 90.08, P < 0.05). There was no statistically significant difference in the 3- and 5-year OS ( P>0.05) between both groups. The 3-year disease-free survival (DFS) and 5-year DFS of the negative group were 87.6% and 84.5%, respectively, and those of the positive group were 72.5% and 69.3%, respectively ( χ2=8.59, P=0.003). Regarding failure modes, distant metastasis mainly occurred in the positive group, while local recurrence was dominant in the negative group ( χ2=9.40, P<0.05). The univariate analysis of the DFS in 53 patients with postoperative positive lymph nodes showed that deep interstitial invasion affected DFS, with statistically significant differences ( χ2 = 7.25, P < 0.05). The result of the multivariate analysis showed that the lesion size >4 cm, positive residual, and deep interstitial invasion significantly influenced the DFS ( χ2 = 4.37, 4.69, 4.39, P < 0.05). Conclusions:The lesion size, deep interstitial invasion, and risk factor number were independent factors influencing lymph node metastasis, and the DFS after radiotherapy of patients with pelvic lymph node metastasis was significantly lower than the patients with negative lymph nodes. The main recurrence type of patients with lymph node metastasis was distant metastasis. Moreover, the deep interstitial invasion was independent factor affecting the DFS of early-stage cervical cancer patients with postoperative positive lymph nodes.
6.Analysis of clinical efficacy of radiotherapy alone and concurrent chemoradiotherapy in cervical cancer patients with intermediate risk factors after surgery
Wenyan PAN ; Jianping MA ; Jianli HE ; Ying MENG ; Qing LU ; Yangyang FENG ; Zhoulan BAI
Chinese Journal of Radiation Oncology 2022;31(12):1115-1120
Objective:To retrospectively analyze the differences of survival, recurrence, acute side effects and prognostic factors between early stage (stage ⅠB-ⅡA) cervical cancer patients with intermediate risk factors receiving postoperative concurrent chemoradiotherapy (CCRT) or radiotherapy (RT) alone.Methods:Clinical data of 211 patients with intermediate risk factors after early stage cervical cancer surgery admitted to Department of Radiation Oncology of General Hospital of Ningxia Medical University from January 2016 to December 2018, were retrospectively analyzed. Among them, 91 cases were assigned in the RT group and 120 cases in CCRT group. The 3- and 5-year overall survival (OS), progression-free survival (PFS), recurrence and acute side effects were compared between two groups by Chi-square test. Univariate analysis of OS and PFS was performed by Kaplan-Meier method and log-rank test was performed. Multivariate prognostic analysis was conducted by using Cox model. Results:The 3- and 5-year OS of 211 patients were 95.0% and 93.8%, respectively. The 3- and 5-year PFS were 86.8% and 83.2%, respectively. The OS of CCRT and RT group were 93.9%, 96.5% (3-year), 91.8%, 96.5% (5-year) respectively ( χ2=1.763, P=0.184), and the PFS were 84.4%, 89.9% (3-year), 79.3%, 88.3% (5-year) ( χ2=2.619 ,P=0.106), with no difference between the two groups. The total recurrence rate was 15.64%, and there was no significant difference in the recurrence rate and recurrence area between two groups ( χ2=2.623 ,P=0.105; χ2=6.745 ,P=0.080). Locoregional recurrence and lung metastasis were the main patterns of failure. Multivariate prognostic analysis showed that pathological type might significantly affect the OS ( χ2=3.849, P=0.05), and depth of invasion significantly affected the PFS ( χ2=4.095, P=0.043). The incidence of acute gastrointestinal side effect and bone marrow suppression in the CCRT group was significantly higher than that in the RT group ( χ2=56.425, 27.833; both P<0.001). Conclusions:Patients with intermediate risk factors after early cervical cancer surgery obtain high efficacy after radiotherapy. The main patterns of failure are locoregional recurrence and lung metastasis. The pathological type may be an independent prognostic factor of OS and the depth of invasion is an independent prognostic factor of PFS. Compared with RT, CCRT increases the risk of acute gastrointestinal side effects and myelosuppression, which can be tolerated. There is no significant difference in the clinical efficacy between RT and CCRT, which remains to be validated by large sample size studies.
7.Present situation and future development for undergraduate major construction of health service and management
Jianping SI ; Xianju WANG ; Qing GUO
Chinese Journal of Health Management 2022;16(2):111-116
Objective:To evaluate the present situation and future development for undergraduate major construction of health service and management.Methods:One hundred and twenty-three domestic universities with undergraduate health service and management major were selected as the research subjects. This paper analyzed the present situation of major distribution and aim setting, faculty, curriculum system, construction of teaching material, enrollment number, graduate destination, among other areas, using network data collection, questionnaire survey, and descriptive analysis methods. It also analyzed the development trend of this major with regards to the national policy guidance and discipline development dynamics.Results:The results showed that the number of domestic universities with undergraduate major for health service and management had increased from 5 in 2016 to 123 at present, with an average annual growth rate of 472.0%. The curriculum system of various universities covered 13 core courses, such as management and introduction to basic medicine. The total credits required for graduation ranged from 149 to 224, and the proportion of practical teaching in the teaching plan ranged from 12.1% to 45.1%. The credit requirements varied greatly; moreover, the proportion of practical teaching in most universities was not high and the content was narrow. Among the 21 universities participating in the questionnaire survey, 47.6% of them focused their education on cultivating versatile talents, 52.4% had 4-6 full-time teachers, 47.2% of all full-time teachers were 31-40 years old, 42.9% universities had teachers with senior professional titles accounting for 30%-40% of the faculty, and 28.6% universities had teachers with doctoral degrees comprising ≥50% of the faculty. The aim setting of most universities was more or less vague, the number of full-time teachers couldn′t meet the needs of major development, and the connotation construction lagged relatively.Conclusions:The inconsistency of the rapid increasing number of universities with the connotation construction of major has become a key barrier to the connotative development of undergraduate major of health service and management. In the future, building the quality of teaching according to national standards; advancing the integration of government, industry, university, research, and implementation; improving faculty quality; and optimizing the curriculum system will be part of the development trend.
8.Current status and influencing factors of knowledge, attitude and practice about the secondary prevention of coronary heart disease among cardiovascular nurses
Rui SHI ; Jianping XU ; Qing GUO ; Mingmei GUO ; Xiaocheng WANG ; Xiaohong CHANG
Chinese Journal of Modern Nursing 2021;27(21):2837-2842
Objective:To understand the status quo of nurses' knowledge, attitude and behavior towards secondary prevention of coronary heart disease (CHD) , so as to provide basis for the standardization of secondary prevention management of CHD.Methods:From July to August 2020, a total of 1 087 nurses in the Cardiovascular Department of 20 comprehensive hospitals (12 ClassⅢ hospitals and 8 ClassⅡ hospitals) and 1 ClassⅢ Grade A Cardiovascular Hospital in 11 cities of Shanxi Province were selected as the research subjects by convenience sampling method. The self-designed questionnaire (including general information, knowledge dimension, attitude dimension and behavior dimension) was used to investigate them.Results:The scores of secondary prevention knowledge, attitude and behavior of 1 087 nurses in Cardiovascular Department were (24.17±5.37) , (53.85±7.97) and (51.23±10.07) , respectively. Multiple linear regression analysis showed that department, whether to have learned relevant guidelines / consensus in the past 12 months, cardiovascular working years, whether to have carried out cardiac rehabilitation in hospital and department, hospital level, whether to have participated in cardiac rehabilitation training were the influencing factors of cardiovascular nurses' knowledge, attitude and practice of secondary prevention management ( P<0.05) . Correlation analysis showed that there were positive correlations among the scores of knowledge, attitude and behavior of secondary prevention of coronary heart disease in nurses of Cardiovascular Department ( P<0.01) . Conclusions:Cardiology nurses need to improve their knowledge and behaviors in the management of secondary prevention of coronary heart disease, while the nursing attitudes are positive. Nursing administrators and educators should strengthen the training and learning of nurses on secondary prevention knowledge of patients with coronary heart disease, so as to effectively improve the compliance of patients with secondary prevention of coronary heart disease self-management.
9.Psychological distress and post-traumatic growth experience of patients with cervical cancer after chemotherapy: a qualitative study
Qing PENG ; Yanyan ZHOU ; Xue LI ; Huihui WANG ; Jianping SU
Modern Clinical Nursing 2019;18(1):27-32
Objective To investigate the psychological experience of psychological pain and post-traumatic growth of cervical cancer patients with postoperative chemotherapy, and provide evidence for a more comprehensive and scientific psychological intervention plan. Methods In this qualitative study, the phenomenological study method was used to conduct deep semi-structured interviews with 12 cervical cancer patients treated with postoperative chemotherapy. The collected data were summarized by Colaizzi's seven-step content analysis method. Results The analysis based on the main theme of psychological pain reached four sub-themes:practical problems, communication problems, emotional problems, physical problems and the analysis based on the main theme of posttraumatic growth reached three sub-themes: interpersonal relationships, life perceptions and personal strength, spiritual change and new possibilities. Conclusions In the postoperative chemotherapy period, patients with cervical cancer encounter psychological pain and post-traumatic growth. Health care givers should combine the positive and negative emotions of patients to consider the psychological situation and develop a practical and comprehensive psychological intervention plan for them.
10.Analysis of KIAA0196 gene mutation in a family with hereditary spastic paraplegia.
Gen LI ; Ying QING ; Xuhan YANG ; Jingyu LOU ; Xiaowen HU ; Chao YANG ; Juan ZHANG ; Lin HE ; Jianping LI ; Chunling WAN
Chinese Journal of Medical Genetics 2019;36(6):584-587
OBJECTIVE:
To identify pathogenic mutation in a Chinese family affected with hereditary spastic paraplegia (HSP) through genetic testing and a follow-up survey.
METHODS:
Whole exome sequencing was performed on DNA samples of two patients and one unaffected member to screen candidate mutations. Sanger sequencing was used to validate the suspected mutations in all ten family members.
RESULTS:
Four patients and three asymptomatic members (under 25 years old) carried a c.1771T>C mutation of the KIAA0196, while the other three asymptomatic members (over 40 years old) did not carry the mutation. The mutation was predicted to be "affect protein function", "probably damaging" and "disease causing" by SIFT, PolyPhen-2 and Mutation Taster, respectively. Three asymptomatic carriers were followed up and one of them developed HSP one year later, while the other two had no signs of the disease yet.
CONCLUSION
The clinical phenotype of the c.1771T>C mutation of KIAA0196 has a considerable heterogeneity and this mutation may be a common pathogenic site of KIAA0196 mutations among Chinese patients with hereditary spastic paraplegia.
Adult
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Asian Continental Ancestry Group
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Heterozygote
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Humans
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Mutation
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Pedigree
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Phenotype
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Proteins
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genetics
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Spastic Paraplegia, Hereditary
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genetics


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