2013年我國克雅氏病監(jiān)測病例特征分析及隨訪合作程度影響因素的研究
發(fā)布時(shí)間：2018-08-07 19:22
【摘要】：可傳播性海綿狀腦病(Transmissible Spongiform Encephalopathies, TSEs)是由朊病毒引起的可導(dǎo)致人類及多種動(dòng)物中樞神經(jīng)系統(tǒng)發(fā)生不可逆退行性病變的一類疾病,潛伏期長,致死率為100%。目前認(rèn)為其致病因子是一種不含核酸、具有自我復(fù)制能力的感染性朊蛋白粒子,因此,此類疾病又稱朊病毒病。目前已經(jīng)在人類以及20余種動(dòng)物中發(fā)現(xiàn)有自然發(fā)生或感染的TSEs。人類的TSEs,包括克雅氏病(Creutzfeldt-Jakob disease, CJD)、致死性家族型失眠癥(Fatal Familial Insomnia, FFI)、吉斯特曼-施特勞斯綜合征(Gerstmann-Straussler-Scheinker syndrome, GSS)和庫魯病(Kuru)。動(dòng)物的朊病毒病包括牛海綿狀腦病(Bovine Spongiform Encephalopathy, BSE)、羊瘙癢病(Scrapie)、騾鹿和麇鹿的慢性消耗性疾病(Chronic Wasting Disease, CWD)、可傳播性貂腦病(Transmissible Mink Encephalopathy, TME)、貓科動(dòng)物海綿狀腦病(Feline Spongiform Encephalopathy, FSE)等。CJD根據(jù)發(fā)病機(jī)制的不同可以分為4類：散發(fā)型CJD (sporadic CJD, sCJD)、家族遺傳型CJD (genetic CJD or familial CJD, gCJD or fCJD)、醫(yī)源型CJD(iatrogenic CJD, iCJD)及變異型CJD (variant CJD, vCJD)。 本文分為兩部分,第一部分是對我國2013年CJD監(jiān)測病例進(jìn)行特征分析,研究我國CJD的發(fā)病情況、流行病學(xué)及臨床特征。第二部分是根據(jù)我國CJD監(jiān)測系統(tǒng)的數(shù)據(jù),對2013年1-9月監(jiān)測系統(tǒng)中收集的CJD病人通過電話隨訪的方式獲取病人和受訪者的信息,探尋這些因素對受訪者接受隨訪合作程度的影響。 第一部分：2013年我國克雅氏病監(jiān)測病例特征分析 為了解我國(未包括香港、澳門和臺(tái)灣地區(qū),以下同)克雅氏病(CJD)的發(fā)病情況、流行病學(xué)及臨床特征,對2013年我國克雅氏病監(jiān)測網(wǎng)絡(luò)獲得的可疑CJD病例的臨床及流行病學(xué)資料進(jìn)行分析,收集患者腦脊液及血液樣品,利用Western blot方法檢測腦脊液中14-3-3蛋白,提取全血基因組DNA并利用PCR及測序方法對PRNP基因進(jìn)行129位和219位氨基酸多態(tài)性及基因是否存在突變進(jìn)行分析。 2013年,共有299份送檢病例,其中診斷為sCJD臨床診斷病例116例(38.80%),疑似sCJD病例25例(8.36%),gCJD病例9例(3.01%),FFI病例3例(1.00%)。病例報(bào)告無季節(jié)聚集性,長久居住地呈散在分布,職業(yè)分布廣泛。臨床診斷病例年齡中值為61歲(32,86),男女比例為0.87：1；疑似診斷病例年齡中值為53歲(21,78),男女性別比例為0.79：1。在病例出現(xiàn)的臨床癥狀中,快速進(jìn)行性癡呆為最常見的首發(fā)癥狀。另外同時(shí)出現(xiàn)3種以上典型臨床表現(xiàn)的病例所占的比例在臨床診斷病例組中明顯高于疑似診斷病例組。分析比較腦脊液14-3-3蛋白、腦電圖(electroencephalograph, EEG)以及頭顱核磁共振(Magnetic Resonance Imaging, MRI)三項(xiàng)檢測結(jié)果,出現(xiàn)陽性結(jié)果越多的病例表現(xiàn)出更多的典型癥狀。對283份病例血液樣品PRNP基因多態(tài)性檢測發(fā)現(xiàn),278例129位氨基酸為甲硫氨酸純合子(M/M),5例129位氨基酸為甲硫氨酸/纈氨酸雜合子(M/V)；277例219位氨基酸為賴氨酸純合子(E/E),6例219位氨基酸為賴氨酸/谷氨酸雜合子(E/K)。 2013年我國監(jiān)測系統(tǒng)中克雅氏病的發(fā)病時(shí)間、長久居住地、職業(yè)、性別比例以及年齡分布均符合散發(fā)型克雅氏病的發(fā)病特點(diǎn)。臨床診斷病例表現(xiàn)出更多的典型臨床癥狀和臨床實(shí)驗(yàn)室陽性檢測結(jié)果。2013年共發(fā)現(xiàn)12例遺傳型朊病毒病病例,其中D178N、E200K和T188K為中國漢族人群中最常見的PRNP基因突變類型。 第二部分：克雅氏病病例隨訪合作程度影響因素的研究 中國自2006年開展了人類朊病毒病監(jiān)測以來,隨訪作為CJD監(jiān)測日常工作的一部分,對于明確該病的診斷一直發(fā)揮著很重要的作用。在隨訪的方式中,電話隨訪相對于其它隨訪方式以其可行性強(qiáng)的特點(diǎn),成為最常采用的一種隨訪方式。盡管電話隨訪是由中國疾病預(yù)防控制中心CJD豁測中心擁有多年監(jiān)測經(jīng)驗(yàn)的專業(yè)技術(shù)人員進(jìn)行,但是受訪對象在接受隨訪時(shí)的合作程度各有差異,不合作的情況也時(shí)有發(fā)生。本研究共納入2013年監(jiān)測系統(tǒng)1-9月份收集到的199份病例,分別從13個(gè)涉及患者和5個(gè)涉及受訪者方面的信息設(shè)計(jì)了調(diào)查問卷,目的在于探索影響受訪對象合作程度的因素。受訪者的合作程度作為因變量被分為不合作,基本合作,非常合作三個(gè)等級(jí)。在經(jīng)過單因素和有序回歸兩步分析后發(fā)現(xiàn)患者的性別、CJD診斷結(jié)果、出現(xiàn)典型臨床表現(xiàn)個(gè)數(shù)、治療方案、是否堅(jiān)持治療、受訪者與患者關(guān)系以及受訪者對CJD的認(rèn)識(shí)等七個(gè)因素對合作程度有顯著性影響。這是全國在CJD的監(jiān)測隨訪過程中,首次對影響受訪者合作程度的因素開展研究,該研究有助于在監(jiān)測CJD病例發(fā)病特征過程中,進(jìn)一步提高隨訪工作的質(zhì)量。
[Abstract]:Transmissible Spongiform Encephalopathies (TSEs) is a kind of disease caused by prion causing irreversible degenerative diseases in the central nervous system of human and various animals. It has a long latent period and the mortality rate is 100%.. It is considered as a kind of non nucleic acid and has the ability of self replicating. The infectious prion particles, therefore, are also known as prion diseases. TSEs of TSEs. humans, including Creutzfeldt-Jakob disease (CJD), fatal familial insomnia (Fatal Familial Insomnia, FFI), and gilltman Strauss heald, have been found in humans and more than 20 species of animals. Gerstmann-Straussler-Scheinker syndrome, GSS and Kuru. Prion diseases in animals include bovine spongiform encephalopathy (Bovine Spongiform Encephalopathy, BSE), sheep pruritus (Scrapie), mule deer and deer's chronic wasting disease (Chronic Wasting Disease,), and transmissible mink encephalopathy Athy, TME), cat spongiform encephalopathy (Feline Spongiform Encephalopathy, FSE) and other.CJD can be divided into 4 categories according to the different pathogenesis: scattered CJD (sporadic CJD, sCJD), familial genetic CJD, and variant forms.
This article is divided into two parts. The first part is the characteristic analysis of CJD monitoring cases in 2013 in China, the study of the incidence, epidemiology and clinical features of CJD in China. The second part is based on the data of the CJD monitoring system in China, to obtain patients and interviewees through the telephone follow-up of the CJD patients collected in the 1-9 month monitoring system in 2013. Information to explore the impact of these factors on the degree of interviewees' follow-up cooperation.
Part one: characteristics of surveillance of Creutzfeldt Jakob disease in China in 2013
In order to understand the incidence, epidemiology and clinical features of CJD (CJD), the clinical and epidemiological data of suspected CJD cases obtained from the 2013 surveillance network in China were analyzed, the cerebrospinal fluid and blood samples were collected, and the Western blot method was used to detect the disease. 14-3-3 protein in cerebrospinal fluid (CSF) was used to extract whole blood genomic DNA and to analyze the polymorphism of 129 and 219 bit amino acids and the existence of mutations in the PRNP gene by PCR and sequencing.
In 2013, there were 299 cases of examination, of which 116 cases (38.80%) were diagnosed as sCJD clinical cases, 25 cases (8.36%), 9 cases (3.01%) of gCJD cases and 3 cases (1%) of FFI cases. The cases reported no seasonal aggregation, the long residence was scattered and the occupational distribution was wide. The median age of clinical diagnosis was 61 years (32,86), the ratio of men and women was to the ratio of men and women. 0.87:1, the median age of suspected cases is 53 years (21,78), and the sex ratio of men and women is 0.79:1. in the clinical symptoms of the case, and rapid progressive dementia is the most common first symptom. In addition, the proportion of cases with more than 3 typical clinical manifestations is significantly higher than the suspected diagnosis case in the clinical diagnosis case group. Analysis and comparison of three items of 14-3-3 protein in cerebrospinal fluid, electroencephalograph (EEG) and Magnetic Resonance Imaging (MRI), and more cases with more positive results showed more typical symptoms. The polymorphism of PRNP gene of blood samples in 283 cases was found to be 278 cases of 129 amino acids. Methionine homozygote (M/M), 129 amino acids in 5 cases were methionine / valine heterozygote (M/V), 277 cases of 219 amino acids were lysine homozygote (E/E), and 6 cases of 219 amino acids were lysine / glutamic heterozygote (E/K).
In 2013, the time of the disease, the place of residence, the occupation, the sex ratio and the age distribution were all conformed to the characteristics of the disease. The clinical diagnosis cases showed more typical clinical symptoms and clinical laboratory test results, and 12 cases of hereditary prion disease were found in.2013 years. Middle D178N, E200K and T188K were the most common PRNP gene mutation types in Chinese Han population.
The second part: Research on the factors influencing the degree of cooperation in patients with Creutzfeldt Jakob disease.
Since the monitoring of human prion disease in 2006, follow up as part of the daily work of CJD monitoring has been playing an important role in the diagnosis of the disease. In the follow-up mode, telephone follow-up is the most frequently used follow-up mode compared with other follow up methods. The telephone follow-up was carried out by professional technicians who had years of monitoring experience at the CJD center of China Center for Disease Control and prevention. However, there were differences in the degree of cooperation between the respondents and the cases of non cooperation. This study included 199 cases collected in the 2013 monitoring system from 13, respectively, from 13. A questionnaire was designed for patients and 5 interviewees. The purpose of the questionnaire was to explore the factors affecting the degree of cooperation among the respondents. The degree of cooperation among the respondents was divided into non cooperation, basic cooperation, and very cooperative three levels. The gender of the patient was found after the two step analysis by the single factor and the sequential regression, CJD The seven factors, such as the results of the diagnosis, the number of typical clinical manifestations, the treatment plan, the adherence to the treatment, the relationship between the interviewees and the patients, and the awareness of the interviewees on the CJD have a significant impact on the degree of cooperation. This is the first time to study the factors affecting the degree of cooperation of the respondents in the follow-up process of the CJD monitoring. In the course of monitoring the characteristics of CJD cases, the quality of follow-up work is further improved.
【學(xué)位授予單位】：中國疾病預(yù)防控制中心
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2014
【分類號(hào)】：R742
本文編號(hào)：2171101
[Abstract]:Transmissible Spongiform Encephalopathies (TSEs) is a kind of disease caused by prion causing irreversible degenerative diseases in the central nervous system of human and various animals. It has a long latent period and the mortality rate is 100%.. It is considered as a kind of non nucleic acid and has the ability of self replicating. The infectious prion particles, therefore, are also known as prion diseases. TSEs of TSEs. humans, including Creutzfeldt-Jakob disease (CJD), fatal familial insomnia (Fatal Familial Insomnia, FFI), and gilltman Strauss heald, have been found in humans and more than 20 species of animals. Gerstmann-Straussler-Scheinker syndrome, GSS and Kuru. Prion diseases in animals include bovine spongiform encephalopathy (Bovine Spongiform Encephalopathy, BSE), sheep pruritus (Scrapie), mule deer and deer's chronic wasting disease (Chronic Wasting Disease,), and transmissible mink encephalopathy Athy, TME), cat spongiform encephalopathy (Feline Spongiform Encephalopathy, FSE) and other.CJD can be divided into 4 categories according to the different pathogenesis: scattered CJD (sporadic CJD, sCJD), familial genetic CJD, and variant forms.
This article is divided into two parts. The first part is the characteristic analysis of CJD monitoring cases in 2013 in China, the study of the incidence, epidemiology and clinical features of CJD in China. The second part is based on the data of the CJD monitoring system in China, to obtain patients and interviewees through the telephone follow-up of the CJD patients collected in the 1-9 month monitoring system in 2013. Information to explore the impact of these factors on the degree of interviewees' follow-up cooperation.
Part one: characteristics of surveillance of Creutzfeldt Jakob disease in China in 2013
In order to understand the incidence, epidemiology and clinical features of CJD (CJD), the clinical and epidemiological data of suspected CJD cases obtained from the 2013 surveillance network in China were analyzed, the cerebrospinal fluid and blood samples were collected, and the Western blot method was used to detect the disease. 14-3-3 protein in cerebrospinal fluid (CSF) was used to extract whole blood genomic DNA and to analyze the polymorphism of 129 and 219 bit amino acids and the existence of mutations in the PRNP gene by PCR and sequencing.
In 2013, there were 299 cases of examination, of which 116 cases (38.80%) were diagnosed as sCJD clinical cases, 25 cases (8.36%), 9 cases (3.01%) of gCJD cases and 3 cases (1%) of FFI cases. The cases reported no seasonal aggregation, the long residence was scattered and the occupational distribution was wide. The median age of clinical diagnosis was 61 years (32,86), the ratio of men and women was to the ratio of men and women. 0.87:1, the median age of suspected cases is 53 years (21,78), and the sex ratio of men and women is 0.79:1. in the clinical symptoms of the case, and rapid progressive dementia is the most common first symptom. In addition, the proportion of cases with more than 3 typical clinical manifestations is significantly higher than the suspected diagnosis case in the clinical diagnosis case group. Analysis and comparison of three items of 14-3-3 protein in cerebrospinal fluid, electroencephalograph (EEG) and Magnetic Resonance Imaging (MRI), and more cases with more positive results showed more typical symptoms. The polymorphism of PRNP gene of blood samples in 283 cases was found to be 278 cases of 129 amino acids. Methionine homozygote (M/M), 129 amino acids in 5 cases were methionine / valine heterozygote (M/V), 277 cases of 219 amino acids were lysine homozygote (E/E), and 6 cases of 219 amino acids were lysine / glutamic heterozygote (E/K).
In 2013, the time of the disease, the place of residence, the occupation, the sex ratio and the age distribution were all conformed to the characteristics of the disease. The clinical diagnosis cases showed more typical clinical symptoms and clinical laboratory test results, and 12 cases of hereditary prion disease were found in.2013 years. Middle D178N, E200K and T188K were the most common PRNP gene mutation types in Chinese Han population.
The second part: Research on the factors influencing the degree of cooperation in patients with Creutzfeldt Jakob disease.
Since the monitoring of human prion disease in 2006, follow up as part of the daily work of CJD monitoring has been playing an important role in the diagnosis of the disease. In the follow-up mode, telephone follow-up is the most frequently used follow-up mode compared with other follow up methods. The telephone follow-up was carried out by professional technicians who had years of monitoring experience at the CJD center of China Center for Disease Control and prevention. However, there were differences in the degree of cooperation between the respondents and the cases of non cooperation. This study included 199 cases collected in the 2013 monitoring system from 13, respectively, from 13. A questionnaire was designed for patients and 5 interviewees. The purpose of the questionnaire was to explore the factors affecting the degree of cooperation among the respondents. The degree of cooperation among the respondents was divided into non cooperation, basic cooperation, and very cooperative three levels. The gender of the patient was found after the two step analysis by the single factor and the sequential regression, CJD The seven factors, such as the results of the diagnosis, the number of typical clinical manifestations, the treatment plan, the adherence to the treatment, the relationship between the interviewees and the patients, and the awareness of the interviewees on the CJD have a significant impact on the degree of cooperation. This is the first time to study the factors affecting the degree of cooperation of the respondents in the follow-up process of the CJD monitoring. In the course of monitoring the characteristics of CJD cases, the quality of follow-up work is further improved.
【學(xué)位授予單位】：中國疾病預(yù)防控制中心
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2014
【分類號(hào)】：R742
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