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Childhood absence epilepsy (CAE) is an important kind of epileptic syndrome of genetic generalized epilepsies (GGEs) with prevalence of 5.8/100 000-7.1/100 000.The genetic mechanism of CAE is always the hotspot of research.Susceptibility genes including calcium channel and γ-aminobutyric acid receptor as well as copy number variations (CNVs) have been found.However,those mechanisms cannot explain all the situations since the genetic content of CAE is rather complicated.Nowadays,with new susceptibility genes and genetic mechanisms coming to light,researchers are supposed to study this problem from the point of associated epileptic syndromes.In this review,the genetic features,probable mechanisms of CAE and therapeutic drugs were summarized.
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Objective To investigate the clinical teaching situation by using developmental inspection of School of Medicine,Shanghai Jiaotong University(SJTU-SM),and to put forward some suggestions. Methods By checking questionnaires and informal discussions,the relevant information was collected and analyzed by using SPSS statistics sofware. Results The clinical teaching quality of SJTU-SM was basically satisfied.The satisfaction from internship of grade 2004 was better than that of grade 2003.However,some problems in clinical teaching must be improved.Conclusion The investigation showed that the clinical teaching quality of SJTU-SM is being improving.However,in order to achieve the international accreditation standards,the quality guarantee system of clinical teaching need to be further perfected.
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Objective To explore a new model of medical humanity education in new situation. Methods Extensive survey was carried out among medical students,and discussion and consultation were hold to faculty and education administers.A new teaching model was established. Results A curriculum system with 1 or 2 core courses supported by some elective courses and social practice is under the process of implementation and achieved preliminary success.Conclusion The medical humanity education should pay attention to the development of connotation instead of pursuing the extension of quantity blindly,which means that students' school work must be eased by focusing on self-study and self-education.Medical students'life path with high-minded personality training should be strengthened.
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Objective To discuss some problems about current learning objectives for the speciality of clinical medicine in China,including the concepts,the decision-making systems and value-orientation,and to provide the reference for stipulating the learning objectives in future. Methods The objectives of some Chinese medical universities were collected from their websites.Some medical educators were consulted about their feelings about these learning objectives,and also were asked to identify their own objectives. Results Medical educators failed to distinguish their own objectives,and there were four main problems in current learning objectives: generalization,similarity and lack of individuality,difficulty in guide the curricula and teaching,and setting up too high object. Conclusion The learning objectives in clinical medicine should reflect both specialty characteristic and university individuality,so they should be drawn up by teachers,students and educatirnal administrators,moreover their value orientation should be eligible standard,not excellence.
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Objective To investigate students' view about the laboratory medicine curriculum and teaching reform,and to provide reference for further reform and development. Methods The students specialized in laboratory medicine in School of Medicine,Shanghai Jiaotong University were involved in the survey.Questionnaires were answered and analyzed.The research method of expert consultation was adopted. Results Students had some different opinions for course content,structure and so on,and they expected more clinical practice,more hands operation,and more teachers' guidance.Conclusion To train laboratory technicians,it was necessary to build a reasonable system of professional courses and train practical talents.
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<p><b>OBJECTIVE</b>To investigate the relationship between haplotypes of multilocus markers and ankylosing spondylitis (AS).</p><p><b>METHODS</b>Five families with AS were recruited from Shanghai area. Eleven microsatellite markers around D6S276 were analyzed by Linkage package and by Cyrillic package.</p><p><b>RESULTS</b>Fine linkage analysis showed the significant Lod score values with D6S276 was 3.8821, Lod score values with D6S1691 and D6S1618 near D6S276 were larger than 1.5. The crossover value in 5 pedigrees was 14%. The haplotype analysis showed that the regions between D6S1691 and D6S1618 were associated with AS.</p><p><b>CONCLUSION</b>The regions of D6S1691-D6S276-D6S1618 may harbor a susceptible gene of AS. The specific haplotypes of different pedigrees may play an important role in the presymptomatic diagnosis for AS.</p>
Subject(s)
Female , Humans , Male , Haplotypes , Genetics , Linkage Disequilibrium , Genetics , Pedigree , Spondylitis, Ankylosing , GeneticsABSTRACT
<p><b>OBJECTIVE</b>In order to investigate the leukemogenic potential of NUP98-HOXA9 fusion gene in vivo.</p><p><b>METHODS</b>Molecular cloning technology was used to construct NUP98-HOXA9 transgenic plasmid and NUP98-HOXA9 transgenic mice were generated. The genotype and phenotype of the NUP98-HOXA9 transgenic mice were analyzed by PCR, RT-PCR and colony-forming assay. The effect of N-ethyl-N-nitrosourea (ENU) stimulation on the transgenic mice was analyzed by peripheral blood count, bone marrow (BM) cells morphology pathological examination.</p><p><b>RESULTS</b>The transgenic expression was detected in 5 independent lines of NUP98-HOXA9 transgenic mice, but no expected phenotypes was found in 2 year follow-up. Upon ENU stimulation, 2 of 10 transgenic mice developed myeloid leukemia, suggesting that NUP98-HOXA9 transgenic mice have increased susceptibility to ENU mutagenesis in leukemogenesis.</p><p><b>CONCLUSION</b>The fusion gene expressed in BM cells of NUP98-HOXA9 transgenic mice. It seems that the expression of the fusion gene is insufficient to trigger leukemogenesis. However, the increased susceptibility to ENU mutagenesis suggests that NUP98-HOXA9 fusion gene might play a potential role in leukemogenesis.</p>
Subject(s)
Animals , Female , Humans , Male , Mice , Bone Marrow Cells , Metabolism , Pathology , Disease Models, Animal , Ethylnitrosourea , Gene Expression Regulation, Leukemic , Genotype , Homeodomain Proteins , Genetics , Leukemia, Myeloid , Blood , Genetics , Mice, Transgenic , Nuclear Pore Complex Proteins , Genetics , Oncogene Proteins, Fusion , Genetics , Phenotype , Plasmids , Reverse Transcriptase Polymerase Chain Reaction , TransfectionABSTRACT
<p><b>OBJECTIVE</b>In order to investigate the leukemogenic potential of NUP98-PMX1 fusion gene in vivo.</p><p><b>METHODS</b>NUP98-PMX1 transgenic mice were generated, in which the fusion gene was driven by hCG promoter and expressed in myeloid cells at early stage of differentiation. Molecular cloning technology was used to construct NUP98-PMX1 transgenic plasmid. The genotype and phenotype of the NUP98-PMX1 transgenic mice were analyzed by PCR, RT-PCR, peripheral blood count (PBC), bone marrow (BM) cells morphology and pathological examination.</p><p><b>RESULTS</b>NIH3T3 cells transfected with NUP98-PMX1 fusion gene grew faster, formed colonies in soft agar, and developed tumors in 10 inoculated nude mice. Among 8 disordered NUP98-PMX1 transgenic mice, 4 developed myeloid leukemia-like phenotype, including 3 resembling human chronic myeloid leukemia.</p><p><b>CONCLUSION</b>NUP98-PMX1 has oncogenic activity and plays a crucial role in leukemogenesis.</p>
Subject(s)
Animals , Female , Humans , Male , Mice , Bone Marrow Cells , Metabolism , Pathology , Disease Models, Animal , Flow Cytometry , Gene Expression Regulation, Leukemic , Green Fluorescent Proteins , Genetics , Metabolism , Leukemia, Myeloid , Genetics , Pathology , Mice, Inbred C57BL , Mice, Inbred Strains , Mice, Nude , Mice, Transgenic , NIH 3T3 Cells , Nuclear Pore Complex Proteins , Genetics , Metabolism , Oncogene Proteins, Fusion , Genetics , Metabolism , Phenotype , Plasmids , Recombinant Fusion Proteins , Genetics , Metabolism , Reverse Transcriptase Polymerase Chain Reaction , TransfectionABSTRACT
Six human leucocytic antigen(HLA)-associated diseases, including ankylosing spondylitis, rheumatoid arthritis, multiple sclerosis, systemic lupus erythematosus, type 1 diabetes mellitus and psoriasis, were selected as objects of this review. The characteristics of these diseases in whole-genome scans on susceptibility genes or loci undertaken to date were analyzed and compared. Meanwhile, the potential proposals for dealing with the existing problems were put forward.