Objective To explore the clinical features of juvenile Parkinson's disease(PD).Methods The clinical materials in 28 patients with juvenile Parkinsonism were analysed retrospectively.Results Among the 28 cases, 5 patients from 3 families had familial history and presented autosomal recessive inheritance(AR-JP).The sympotoms of the parkinsonian triad were mild and unsymmetric.The disease progressed slowly.Hyperreflexia and diurnal fluctuation of sympotoms were often seen in these patients,but brain CT and MRI were often nomal.Response to levodopa was satisfactory,but dopa-induced motor fluctuations occurred early. In contrast to sporadic juvenile PD,AR-JP tended to have earlier age of onset( 20.6?5.68 years),longer duration of progression of parkinsonian signs and symptoms( 9.5?5.77 years),more frequent presence of hyperreglexia and diural fluctuation,and more frequent appearance of dopa-related motor fluctuations.Conclusion The clinical features of patients with juvenile PD are peculiar and juvenile PD may be an independent disease entity.AR-JP is different from sporadic juvenile PD,which suggests that there may be different pathogenesis between these two subtypes.

Objective To explore the clinical features of autosomal recessive juvenile Parkinson disease(AR-JP).Methods The clinical materials of 28 patients from 15 families with AR-JP were analyzed retrospectively.Results The onset of all the patients was insidious and the mean age was 26.1 years old.In 23 patients(82.1%),the symptoms began at one limb or one side and progressed bilaterally in a mean time of((4.7?)3.6) years.Bradykinesia(100%),rigidity(100%),resting tremor (85.7%),postural instability(60.7%),hyperreflexia(53.6%),dystonia(32.1%) and diurnal fluctuations with sleep benefit(89.2%) were the cardinal symptoms.The mean improved Webster score was(11.2?)6.1.The mean maintenance dose of DOPA-preparation was((0.40?)0.28) g/d.The mean UPDRS motor score was(27.9?)10.3 before treatment and it decreased to(6.7?)5.4 after therapy(P

Objective To study the clinical features and genetic mutation frequency of spinocerebellar ataxia (SCA) type 6 from Chinese kindreds. Methods The SCA6 (CAG)n trinucleotide repeat mutations were detected using polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE) techniques in 330 patients with autosomal dominant SCA from 160 kindreds and 77 sporadic SCA patients, and the abnormal alleles fragments were sequenced by ABI377 DNA sequencing machine. The clinical features were assessed and cranial MRI examinations were performed in these patients.Results 6 patients from 4 SCA6 Chinese kindreds had abnormal SCA6 alleles with CAG repeat expanded to 25 and 26, respectively, of which 2.5% was about the positive rate, while CAG repeat of normal SCA6 allele ranged from 5 to 17. The basic characteristics of SCA6 patients were slowly progressive cerebellar ataxia and purely cerebellar atrophy.Conclusion SCA6 is one seldom subtype of SCA in Chinese patients with its characteristics both in clinic and imaging in contrast to other subtypes.

The aim of this experiment was to construct a human colorectal carcinoma cDNA phage expression library. Total RNA was extracted from the cancer tissue of human colorectal carcinoma, and the mRNA was purified. The single-strand and double-strand of cDNA were synthesized through reverse transcription-PCR and LD-PCR. cDNA fragments, after removal of those smaller than 500bp, were combined with ?TriplEx2 phage vector. The recombinant cDNA were packaged in vitro with MaxPlax TM Packaging Extract, then a small portion of packaged phage was used to infect E.coli XL1-blue for titration and determination of the percentage of recombinant clones. PCR method was used to identify the size of inserted cDNA. A human colorectal carcinoma cDNA phage library consisting of 2.07?10 6 pfu/ml recombinant bacteriophages was successfully constructed, the recombinant percentage was 94.5%, and the range of the fragment length of exogenous inserted cDNA was between 600bp～4kb, with an average of about 1.4kb. It met the universally accepted standards, and it could be useful in screening cDNA clones to find out the human colorectal carcinoma associated antigen genes.

Objective To construct eukaryotic expression vector of PINK1 (pcDNA3. 1-myc/PINK1) and verify PINK1 expression in pcDNA3.1-myc/PINK1 transfected COS-7 cells. Methods The cDNA fragment encoding human PINK1 gene was amplified by PCR method from human cDNA library. After nucleotide sequencing, this cDNA fragment was inserted into an eukaryotic expression vector pcDNA3. 1-myc-his( - )B using gene cloning and DNA recombination. The recombinant was then transferred into COS-7 cells by liposome. The expression of the target molecule was assayed by western blotting. Results The sequence of DNA fragment amplified by PCR was consistent with that published in Genbank, and digestion of the recombinant plasmid with EcoR Iand BamH Iliberated DNA fragments with expected size. PINK1 was expressed and synthesized in transfected cells after 48h culture. Conclusion An eukaryotic expression plasmid containing human PINK1 gene was successfully constructed, and it can express out objective protein, which has laid a concrete foundation for future study on PINK1.

Clinical cases of TCM are used as important clinical data to record the whole process of the interaction between doctors and patients in the form of text.However,in the context of big data,there is a lack of research on the use of information covered in clinical cases.Therefore,we studied the method of extracting the symptom term from the history of present illness in TCM clinic in this paper,in order to lay the foundation for the further use of clinical cases.First,twelve thousand,three hundred and sixty-seven history data of present illness were obtained by random selection and expert review.According to the different disease types,they were divided into the two groups of the experiments:4,838 data in the diabetes group,7,529 data in the spleen and stomach disease group and 12,367 data in the mixed or combined group.A glossary of symptom terms covering 22,996 words were compiled.Then,five feature templates,such as sliding window feature,prefix and suffix character and lexical features,were selected.CRFs model was adopted to carry out named entity extraction experiment.As a result,in the open test,the performance of diabetes,spleen and stomach disease and mixed group were (0.83,0.8,0.82),(0.9,0.9,0.89) and (0.88,0.87,0.87),respectively,while the results were (0.83,0.82,0.83),(0.95,0.95,0.95) and (0.93,0.92,0.92) in the ten-fold cross validation.In conclusion,the results showed that the CRFs algorithm was an excellent sequence labeling algorithm and applied to the named entity extraction task of symptom history.

Objective To explore the dynamic change and clinical signiticance of plasma D-damer level in patients with cerebral hemorrhage and acute craniocerebral injury.Methods 50 patients with cerebral hemorrhage and 40 patients with acute craniocerebral injury were selected,The enzyme-linked immunosorbent assay (ELISA) was used to measure plasma D-dimer level in two groups of patients after onset,and the results were compared with 40 healthy controls.Results The levels of plasma D-dimer in the patients with cerebral hemorrhage were 1.59mg/L,2.10mg/L,1.03 mg/L,0.82mg/L at 3 h,6h,12h,2d after onset,which in the patients with acute craniocerebral injury were 1.61mg/L,2.02mg/L,1.01mg/L and 0.67mg/L,respectively.And the plasma D-dimer levels were 0.50mg/L,0.49mg/L,0.47mg/L,0.48mg/L in the control group at 3h,6h,12h and 2d after onset.The levels of plasma D-dimer in the patients with acute craniocerebral injury were significantly higher than those in the control group,and the differences were statistically significant (t =9.35,12.17,4.03,3.05,all P ＜ O.05).At 7d after onset,the D-dimer levels in the cerebral hemorrhage group and acute craniocerebral injury group were 0.53mg/L,0.55mg/L,respectively,which of the control group was 0.47mg/L,there was no statistically significant difference among the three groups(P ＞ 0.05).Conclusion Cerebral hemorrhage patients and acute craniocerebral injury patients have high coagulation and fibrinolytic activity in brief increase trend,dynamic observation of plasma D-dimer level in patients with cerebral hemorrhage and acute craniocerebral injury is helpful to determine courses,condition and evaluate prognosis.

Objective To study the feasibility of artificial immune system(AIS)in assistant designing of computer for new Chinese herbal compounds with anti-infectious function.Methods A group of Chinese herbal drug compounds from Treatise on Exogenous Febrile and Miscellaneous Diseases were selected as training samples.Serum was obtained from mice which were infected by Staphylococcus aureus and ig administrated with the various Chinese herbal compounds.The inhibition ability against S.aureus of the serum was tested and input into an artificial neural network(ANN)together with the characters of the every Chinese herb included in those compounds.The ANN was optimized using AIS so that it can predict the inhibitory ability against S.aureus of the Chinese herbal compounds according to the characters of Chinese herbs included in those compounds.After that the computer generated a number of Chinese herbal compounds randomly,calculated their inhibitory ability against S.aureus and output those among the top levels,so as to verify whether the predictions were correct or not.Results After verification,the Chinese herbal drug compounds designed by computer could significantly raise the serum's inhibitory ability against S.aureus.Conclusion The computer can be an assistant for designing new Chinese herbal compounds with anti-infectious function

Objective In this study ,we investigated the apoptosis of hair cell in the cochlea of age -related hearing loss(AHL) generated by ENU mutagenesis ,and to study a pan caspase inhibitor (z-VAD -FMK) which is to protect the cochlea hair cells from hearing loss induced by age-related hearing loss(AHL) .Methods Through z-VAD-FMK intraperitoneal injection and round window membrane (RWM) drug were delivered into the Cdh23 nmf308 nmf/nmf mice 5(postnatal days 2 -32) inner ear .ResuIts The results showed that the nmf308 mice with progressive hair cell loss along a base to apex gradient with age-related hearing loss .The cochlear OHCs reduced from 5% ~10% at 1 month to 100% at 3 month in the basal region .Substantial amounts of TUNEL -positive OHCs nuclei appeared at 1 month age ,and activated caspase-3 labeling demonstrated that most OHCs appeared at 2 months age .These suggested that DNA single strand break was attributed primarily to apoptosis of cochlear le_sions ,whereas in the later stage of lesion ,the expansion led to activation of caspase-3 activity reduced with further progression of nuclear condensation in age-related hearing loss .ConcIusion The addition of a pan caspase inhibitor (z -VAD -FMK ) significantly protected the cochlea against the hair cell loss induced by apoptosis .Our study showed that aspase inhibitor ,Z-VAD-FMK appeared to play a prominent role in age-related hearing loss media_ted hair cell death loss induced by apoptosis .Our study showed that aspase inhibitor ,Z-VAD -FMK appeared to play a prominent role in age-related hearing loss mediated hair cell death .

Objective To explore new ways of scientifically collecting and processing clinical information and improve the efficiency of computer management of electronic patient records for large intestinal tumors. Methods An elementalized and standardized analysis and decomposition was made of the information presented by cases of large intestinal tumors and AI aided tabular electronic patient records for large intestinal tumors were designed using the software of Microsoft Access 2000 and compared with the current Word file records. Results A computer management system of electronic patient records for large intestinal tumors was created, with the linkage of the record elements and the electronic tables of the database. Both the speed and quality of patient information input were markedly enhanced. Conclusion AI aided tabular electronic patient records for large intestinal tumors, which are faster and more exact than the Word file records, are beneficial for the speedy input, statistical analysis and AI aided management of clinical information.