检索结果-南通市图书馆

clinical classification and gene mutation of Chinese probands with Charcot-Marie-Tooth disease Analysis of 57 cases

在线全文

学校读者我要写书评

暂无评论

Neural Regeneration Research 2011年第9期6卷 706-711页

作者： Ruxu Zhang Xiaobo Li Xiaohong Zi Shunxiang Huang Fufeng Zhang Kun Xia Qian Pan Beisha Tang Department of Neurology the Third Xiangya Hospital Central South University Changsha 410013 Hunan Province China Department of Neurology Xiangya Hospital Central South University Changsha 410008 Hunan Province China National Key Laboratory of Medical Genetics Central South University Changsha 410078 Hunan Province China

Charcot-Marie-Tooth （CMT） disease is the most common inherited peripheral neuropathic disorder. CMT is clinically and genetically heterogeneous. To date, 27 genes associated with the disease have been cloned. The present study carried out clinical classification according to clinical, electrophysiological and pathological features, conducted inheritance classification according to inheritance patterns, and performed mutation analysis of 13 CMT disease genes （PMP22, CX32, HSPB1, MNF2, MPZ, HSPB8, GDAP1, NFL, EGR2, SIMPLE, RAB7, LMNA, MTMR2） in 57 Chinese probands with CMT. Five cases of AD-CMT1 and 13 cases of sporadic CMT1 were diagnosed as CMT1A; five cases of X-CMT1, one case of X-CMT2 and one case of sporadic CMT1 were diagnosed as CMTXl; four cases of AD-CMT2 were diagnosed as CMT2F; one case of AD-CMT2 and one case of sporadic CMT2 were diagnosed as CMT2A2; one case of AD-CMT2 was diagnosed as CMT2L; one case of AD-CMT2 was diagnosed as CMT2J; one case of AR-CMT1 was diagnosed as CMT4A. Among the 57 CMT probands, seven genotypes were determined among 34 patients, with a detection rate of 59.6%. The results indicated that the clinical classification and inheritance classification are indispensable for selecting potential disease genes for mutation detection, and for efficient molecular diagnosis.

关键词： Charcot-Marie-Tooth disease clinical classification gene mutation analysis

clinical classification and Treatment Strategy of Hamate Hook Fracture

在线全文

学校读者我要写书评

暂无评论

Journal of Huazhong University of Science and Technology(Medical Sciences) 2010年第6期30卷 762-766页

作者：熊革戴鲁飞郑炜孙燕琨田光磊 Department of Hand Surgery Beijing Jishuitan Hospital

To explore the clinical classification of hamate hook fracture and the treatment strategy for different type of fractures,12 patients who suffered from hamate hook fractures were followed up *** to the fracture sites and the prognosis,we classified the hamate hook fractures into 3 *** Ⅰ referred to an avulsion fracture at the tip of hamate hook,type Ⅱ was a fracture in the middle part of hamate hook,and type Ⅲ represented a fracture at the base of hamate *** the classification,in our series,only 1 fell into type Ⅰ,7 type Ⅱ,and 4 type Ⅲ.The results were evaluated with respect to the functional recovery,recovery time and the association among the clinical classification,pre-operative complications and treatment *** average follow-up time of this group was 8.4±3.9 *** cases were found to have fracture non-union and both of them were type Ⅱ *** patients had complications before *** cases were type Ⅱ fractures and 1 case type Ⅲ *** the patients were satisfied with the results at the time of the last *** pain scale and grip strength improved significantly after *** the pre-operative complications were *** recovery time of hamate hook excision was significantly shorter than that of the other two *** incidences of both pre-operative complications and non-union in type Ⅱ fractures were higher than those in type Ⅰ and type Ⅲ *** was concluded that,generally,the treatment effects with hamate hook fracture are quite *** complication incidence and prognosis of the fracture are closely related to the clinical *** intervention is critical for type Ⅱ fractures.

关键词： hamate hook,fracture clinical classification treatment follow-up

clinical classification and gene mutation analysis in 53 cases of Chinese proband with charcot-marie-tooth disease

在线全文

学校读者我要写书评

暂无评论

Clinical classification and gene mutation analysis in 53 cas...

Current opinions on the mechanism,classification,imaging diagnosis and treatment of post-traumatic osteomyelitis

中国神经科学学会第四次会员代表大会暨第八届全国学术会议

作者： Ru-Xu ZHANG Xia-Hong ZI Bei-Sha TANG~* Department of Neurology Xiangya Hospital Changsa 410008

＜正＞Objective Charcot-Marie-Tooth Disease（CMT） is a clinically and genetically heterogeneous group of hereditary peripheral *** this study,we carried out clinical classification and gene mutation detection in 53 cases of Chinese proband with CMT,with a purpose of establishing an effective procedure for gene diagnosis of *** Conducting clinical classification based on inheritance pattern,clinical manifestation,nerve electrophysiological and pathological characteristics of probands with *** out gene mutation analysis using real-time fluorescence quantitative PCR,PCR-SSCP,DHPLC,and DNA *** Five cases of AD-CMT1 and 13 cases of sporadic CMT1 are diagnosed as CMT1A;5 cases of X-CMT1,1 case of X-CMT2 and 1 case of sporadic CMT1 are diagnosed as CMTX1;1 case of AD-CMT2 is diagnosed as CMT2F;1 case of AD-CMT2 is diagnosed as CMT2L;1 case of AD-CMT2 is diagnosed as CMT2I;1 case of sporadic CMT2 is diagnosed as CMT2A;1 case of AR-CMT1 is diagnosed as CMT4A. Conclusions Among the 53 cases of CMT probands,7 genotypes out of 30 patients were diagnosed with a gene diagnosis detection rate of 56.6%.clinical classification of CMT probands will provide instructive information for gene diagnosis.

关键词： Charcot-Marie-Tooth Disease clinical classification gene mutation analysis

来源： cnki会议评论

在线全文

cnki会议

学校读者我要写书评

暂无评论

Chinese Journal of Traumatology 2021年第6期24卷 320-327页

作者： Jian Yang Jiang-Ling Yao Zi-Quan Wu De-Lu Zeng Lin-Yang Zheng Dong Chen Zheng-Dong Guo Lei Peng Trauma Center the First Affiliated Hospital of Hainan Medical UniversityHainan Medical UniversityHaikou570100China Key Laboratory of Emergency and Trauma Ministry of EducationHainan Medical UniveristyHaikou571199China Hainan Provincial Key Laboratory Hainan Medical UniversityHaikou571199China Hainan Provincial Biomaterials and Medical Device Engineering Technology Research Center Hainan Medical UniversityHaikou571199China

Post-traumatic osteomyelitis(PTO)is a worldwide problem in the field of orthopaedic *** far,there is no ideal treatment or consensus-based gold standard for its *** paper reviews the representative literature focusing on PTO,mainly from the following four aspects:(1)the pathophysiological mechanism of PTO and the interaction mechanism between bacteria and the body,including fracture stress,different components of internal fixation devices,immune response,occurrence and development mechanisms of inflammation in PTO,as well as the occurrence and development mechanisms of PTO in skeletal system;(2)clinical classification,mainly the etiological classification,histological classification,anatomical classification and the newly proposed new classifications(a brief analysis of their scope and limitations);(3)imaging diagnosis,including non-invasive examination and invasive examination(this paper discusses their advantages and disadvantages respectively,and briefly compares the sensitivity and effectiveness of the current examinations);and(4)strategies,including antibiotic administration,surgical choices and other treatment *** on the above-mentioned four aspects,we try to put forward some noteworthy sections,in order to make the existing opinions more specific.

关键词： Osteomyelitis Bone infection Post-traumatic osteomyelitis Pathology Diagnosis clinical classification Treatment

Treatment Strategy for Post-Hepatectomy Recurrent Hepatocellular Carcinoma: A Single Center Experience with 556 Consecutive Cases in China

在线全文

学校读者我要写书评

暂无评论

Journal of Cancer Therapy 2020年第7期11卷 389-400页

作者： Jing Li Liang Huang Caifeng Liu Maixuan Qiu Jianjun Yan Shaohua Wei Yiqun Yan Department of General Surgery The Second Affiliated Hospital of Soochow University Suzhou China Department of Hepatic Surgery Shanghai Eastern Hepatobiliary Surgery Hospital Shanghai China

Background: Treatment strategy for recurrent hepatocellular carcinoma (HCC) remains scantily defined. This study was aimed to establish a treatment strategy to manage post-hepatectomy recurrent HCC and report the clinical outcomes. Methods: From January 2006 to December 2016, 556 consecutive patients who developed post-hepatectomy HCC recurrence were enrolled in the study. The patients were clinically stratified and treated according to a strategy established by a multi-disciplinary team. Clinical data and survival times were collected prospectively and analyzed retrospectively. Results: According to the strategy, there were 298 (53.6%), 214 (38.5%), 32 (5.7%) and 12 (2.2%) patients stratified into Early, Intermediate, Advanced and Terminal stages, respectively. In Early stage patients, 164 (55.0%) received curative treatment in the form of repeat resection or local ablation, 134 (45.0%) received transarterial chemoembolization (TACE), and the 1-, 3-, and 5-year overall survival (OS) rates were 82.0%, 46.8% and 37.3%, respectively. In Intermediate stage patients, 207 (96.7%) received TACE, 7 (3.3%) radiotherapy, and the 1-, 3-, and 5-year OS rates were 73.2%, 31.8% and 15.9%, respectively. In Advanced stage patients, 22 patients received sorafenib, 10 radiotherapy, and the mean survival time (MST) was 25.1 ± 3.1 months. All the 12 patients in Terminal stage received the best supportive treatment, and the MST was 6.5 ± 3.4 months. Clinical stages and duration of disease-free interval were independent factors relating to overall survival. Conclusions:

关键词： Post-Hepatectomy Recurrent Hepatocellular Carcinoma clinical classification Treatment Strategy clinical Outcomes

View Point on Severe Fever with Thrombocytopenia Syndrome

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

国际感染病学（电子版） 2013年第3期2卷 141-144页

作者： Ji-bin Ye Chuan-Song Hu Tai-Sheng Li Li Fang Guangshan County People’s Hospital of Henan Province Department of Infectious Diseases Chinese Academy of Medical Sciences and Beijing Union Medical College Hospital Department of Neurology of the First Affiliated Hospital Zhengzhou University

Severe fever with thrombocytopenia syndrome (SFTS), a new disease of zoonotic natural foci has been increasing in recent years. In this review, the disease of human granulocytic anaplasmosis infection due to tick-borne and new Bunia virus infection, have similar clinical symptoms. Total of 11 articles were retrieved. The emergence, etiology, nomenclature and pathogenic mechanisms, clinical diagnosis and genotyping of SFTS were summarized, and the current situation of treatment was also evaluated. In conclusion, early detection, identiifcation and treatment are the key points to SFTS, but how to reduce the mortality of critically ill patients is still the focus in the future.

关键词： Severe fever with thrombocytopenia syndrome New Bunia virus clinical classification