脑血管病相关基因的研究及遗传资源库的建立
首都医科大学宣武医院 (100053) 国家人类基因组北方研究中心
脑卒中是中老年人常见病及排在第二位的最常见死亡原因。影响脑卒中发病的危险因素包括环境、饮食和遗传因素；脑卒中发病与遗传有关，除少数病人发病可能与单一基因突变所导致，由基因多态性决定的遗传易感性却与大部分患者发病相关。而研究脑卒中的遗传易感基因对预测和预防其发生有着重大意义。我们首先组织北京和全国有代表性地区的医疗和研究机构，一起建立了 “中国脑卒中遗传资源库”，并开展有关脑卒中相关基因的研究。利用北京及全国多家大医院的丰富临床资源和已建立的流行病学人群，采用巢式病例对照研究和回顾定群研究的方法，建立了具有不同临床特征的三种代表人群代表不同民族的中国人脑卒中DNA库。同时，我们还分析了中国人伴皮质下梗死及白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant with subcortical infarcts and leukoencephalopathy, CADASIL)家系先证者及家庭成员Notch3基因突变类型。发现3种突变类型，其中一种为首次报到的突变类型。共发现15种多态类型。在来自于不同CADASIL家系中，发现2名无临床症状家系成员与先证者相同位点的Notch3基因突变。Notch3单基因突变检测是诊断CADASIL的重要手段。exon3、exon4是中国CADASIL家系的热点突变区。
, http://www.100md.com
Benefit from standard management of acute stroke in China mainland
10th five year National Project
Sponsored by National Scientific Committee
HUANG Yining
Department of neurology, peking vniversity first Hospital
Background
In the past decades, the advances of neuroimages, evidence-based data, economic development promoted the stroke management in mainland of China
, 百拇医药
There are still pitfalls and confusion in the evaluation and management of stroke. It increased the economic load for the stroke patients. Optimizing stroke management is pressing need.
Objectives
·To survey the current status of stroke situation in different region of China, covering poor and rich area, as well as different level of hospitals.
·To establish a standard guideline of stroke diagnosis and management, including stroke units, based on these advances and China actuality.
, 百拇医药
·To run the protocol in different levels of hospitals, and to evaluate the efficacy.
Study Design
·Multiple centers, Open, prospective, historical comparison
·Control group: acute stroke patients admitted in the centers in 2001
·Study group: patients admitted in the stroke unit of the centers from June 2002-to June 2003
The different levels of the hospitals
, 百拇医药
·National or province hospitals (grade A 16
·City or army hospitals (grade B) 11
·Regional or county hospitals (grade C) 3
·Data management and Statistics epidemiology department of Fuwai hospital 1
·Monitor: PWH 1
, 百拇医药
Inclusion criteria
·First time of acute ischemic or hemorrhage stroke
·Within 7 days after onset
·NIHSS≧5
·Involvement of anterior or posterior circulation
·Admitted in department of neurology for control group, and admitted in SU in study group
·Signed content agreement in the study group
, 百拇医药
End-point
·Primary
Mortality from any causes
·Secondary endpoints in discharge and 6 months
·mRS good≤2; poor ≧3
·Complications
Basic requirement of SU
·team：neurologist, neursurgeon, radiologist, nurse, rehab therapist
, 百拇医药 ·beds: 4-6
·equipment：Vital monitor, vascular examination, CT 24/7 available
·Written standard protocol
·Observation time：3-6d
Standard management
Standard medication
·Stable Blood pressure
·Glycemia
·ICP
, 百拇医药
·fever
·……
·One of herb medicines is allowed to prescript after 6 h of onset: dansen(丹参), dengzhanhua(灯盏花), sanqi(三七), gegensu(葛根素).
Results
·Study 1153 cases ( about another 500 in following up)
·Control 5144 cases
Thrombolysis, anticoagulation, antithrombus used in clinical
, http://www.100md.com
Complications before and after study
Mortality in different level of hospitals and regions in hospitalization
Complications in different levels of hospitals and regions
Conclusion
·Standard management can significantly decrease the mortality and disability of acute stroke, in discharge and the follow-up of 6months
·It is identically effective for the hospitals in different levels and from different regions
·Significantly reduced medical consumption, 百拇医药(陈彪)
脑卒中是中老年人常见病及排在第二位的最常见死亡原因。影响脑卒中发病的危险因素包括环境、饮食和遗传因素；脑卒中发病与遗传有关，除少数病人发病可能与单一基因突变所导致，由基因多态性决定的遗传易感性却与大部分患者发病相关。而研究脑卒中的遗传易感基因对预测和预防其发生有着重大意义。我们首先组织北京和全国有代表性地区的医疗和研究机构，一起建立了 “中国脑卒中遗传资源库”，并开展有关脑卒中相关基因的研究。利用北京及全国多家大医院的丰富临床资源和已建立的流行病学人群，采用巢式病例对照研究和回顾定群研究的方法，建立了具有不同临床特征的三种代表人群代表不同民族的中国人脑卒中DNA库。同时，我们还分析了中国人伴皮质下梗死及白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant with subcortical infarcts and leukoencephalopathy, CADASIL)家系先证者及家庭成员Notch3基因突变类型。发现3种突变类型，其中一种为首次报到的突变类型。共发现15种多态类型。在来自于不同CADASIL家系中，发现2名无临床症状家系成员与先证者相同位点的Notch3基因突变。Notch3单基因突变检测是诊断CADASIL的重要手段。exon3、exon4是中国CADASIL家系的热点突变区。
, http://www.100md.com
Benefit from standard management of acute stroke in China mainland
10th five year National Project
Sponsored by National Scientific Committee
HUANG Yining
Department of neurology, peking vniversity first Hospital
Background
In the past decades, the advances of neuroimages, evidence-based data, economic development promoted the stroke management in mainland of China
, 百拇医药
There are still pitfalls and confusion in the evaluation and management of stroke. It increased the economic load for the stroke patients. Optimizing stroke management is pressing need.
Objectives
·To survey the current status of stroke situation in different region of China, covering poor and rich area, as well as different level of hospitals.
·To establish a standard guideline of stroke diagnosis and management, including stroke units, based on these advances and China actuality.
, 百拇医药
·To run the protocol in different levels of hospitals, and to evaluate the efficacy.
Study Design
·Multiple centers, Open, prospective, historical comparison
·Control group: acute stroke patients admitted in the centers in 2001
·Study group: patients admitted in the stroke unit of the centers from June 2002-to June 2003
The different levels of the hospitals
, 百拇医药
·National or province hospitals (grade A 16
·City or army hospitals (grade B) 11
·Regional or county hospitals (grade C) 3
·Data management and Statistics epidemiology department of Fuwai hospital 1
·Monitor: PWH 1
, 百拇医药
Inclusion criteria
·First time of acute ischemic or hemorrhage stroke
·Within 7 days after onset
·NIHSS≧5
·Involvement of anterior or posterior circulation
·Admitted in department of neurology for control group, and admitted in SU in study group
·Signed content agreement in the study group
, 百拇医药
End-point
·Primary
Mortality from any causes
·Secondary endpoints in discharge and 6 months
·mRS good≤2; poor ≧3
·Complications
Basic requirement of SU
·team：neurologist, neursurgeon, radiologist, nurse, rehab therapist
, 百拇医药 ·beds: 4-6
·equipment：Vital monitor, vascular examination, CT 24/7 available
·Written standard protocol
·Observation time：3-6d
Standard management
Standard medication
·Stable Blood pressure
·Glycemia
·ICP
, 百拇医药
·fever
·……
·One of herb medicines is allowed to prescript after 6 h of onset: dansen(丹参), dengzhanhua(灯盏花), sanqi(三七), gegensu(葛根素).
Results
·Study 1153 cases ( about another 500 in following up)
·Control 5144 cases
Thrombolysis, anticoagulation, antithrombus used in clinical
, http://www.100md.com
Complications before and after study
Mortality in different level of hospitals and regions in hospitalization
Complications in different levels of hospitals and regions
Conclusion
·Standard management can significantly decrease the mortality and disability of acute stroke, in discharge and the follow-up of 6months
·It is identically effective for the hospitals in different levels and from different regions
·Significantly reduced medical consumption, 百拇医药(陈彪)