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1.
Chinese Journal of Medical Genetics ; (6): 610-614, 2016.
Article in Chinese | WPRIM | ID: wpr-345398

ABSTRACT

<p><b>OBJECTIVE</b>To explore the clinical and genetic characteristics of patients with dentatorubro-pallidoluysian atrophy (DRPLA).</p><p><b>METHODS</b>DNA analysis for DRPLA gene was performed in two patients. Clinical features and genetic testing of Chinese DRPLA patients reported in the literature were reviewed in terms of initial symptoms, CAG repeat and age of onset.</p><p><b>RESULTS</b>Both families were confirmed by genetic analysis. In family 1, the number of CAG repeat in the proband, his brother and his mother was determined respectively as 8/65, 8/53 and 8/18. In family 2, the number of CAG repeat was respectively 13/63, 13/18, 18/52 and 13/13 in the proband, his brother, his father and his mother. The size of the expanded CAG repeats has inversely correlated with the age at onset (P<0.05, r=- 0.555). The age at onset of epilepsy was 10 and that for the onset of ataxia is forty years in initial symptom.</p><p><b>CONCLUSION</b>The clinical characteristics of DRPLA include epilepsy, ataxia and cognitive impairment. The initial symptoms are epilepsy in adolescence and ataxia in adults. The size of expanded CAG repeats inversely correlates with the age at onset. The initial symptoms are different with different age of onset. It is difficult to diagnose DRPLA at an early stage.</p>


Subject(s)
Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Atrophy , Genetics , Basal Ganglia Diseases , Diagnosis , Genetics , DNA Mutational Analysis , Dentate Gyrus , Pathology , Family Health , Globus Pallidus , Pathology , Nerve Tissue Proteins , Genetics , Pedigree , Trinucleotide Repeat Expansion , Genetics
2.
Chinese Journal of Geriatrics ; (12): 499-501, 2010.
Article in Chinese | WPRIM | ID: wpr-389023

ABSTRACT

Objective To explore the similarities and differences in endoscopic and pathological characteristics between elderly and non-elderly patients with Barrett esophagus (BE). Methods Three hundred and seventy-one cases with BE were divided into elderly group (n=254) and nonelderly group (n=117). The detection rate, endoscopic findings and pathological changes were assessed. Results The detection rate of BE was 2.9% in the elderly, and 0. 9% in the non-elderly(χ2 =127.8, P<0.01). The 112 cases (44.1%) of the elderly had reflux symptoms, and so did 87cases (66.7%) of the non-elderly (χ2 =55.9, P<0.01). The detection rate of BE in the two groups was increased year by year from 2004 to 2008. The detection rate of ring pattern was significantly higher in elderly group than in non-elderly group (28.7% vs. 10.3%, χ2=14.5, P<0.01). Nonelderly patients had higher rate of island pattern than elderly patients (59.5% vs. 71.7%, χ2=4.7,P<0.05). There were significant differences in the rate of specialized intestinal metaplasia between elderly and non-elderly patients (42.1% vs. 27.4%, χ2=6.9, P<0.01). The difference in low and medium grade intraepithelial neoplasm between the two groups had statistical significance (21.3% vs.11.1%, χ2=4.9, P<0.05). There were two cases with adenocarcinoma in elderly group, but no case was found in non-elderly group. The detection rate of H. pylori was comparable between elderly group and non-elderly group (35.5% vs. 40.9%, χ2=0.40, P>0.05). Conclusions The elderly patients have the 3.2 times higher detection rate of BE than non-elderly patients. The detection rates of specialized intestinal metaplasia and intraepithelial neoplasm are higher in elderly group than in nonelderly group.

3.
Journal of Biomedical Engineering ; (6): 1023-1026, 2007.
Article in Chinese | WPRIM | ID: wpr-346019

ABSTRACT

Along with the rapid research of neural molecular biology, abundant data are produced so that the collection and coordination of high-throughout data about nervous system relative proteins and genes are imperative. Through analyzing the biological primary databases maintained by NCBI and RCSB as the main data source and designing a new data model, a local specialized secondary database is constructed, which mainly includes nucleotide sequences, protein sequences and protein structures, and is established on Sun Blade 2000 System and Oracle 9i. All programs are developed by Java technology. A method of web information automatic retrieval with XML is proposed for sequence data collection and submission to the database. JSP + JavaBean technology is used to support data promulgation on Internet. The establishment of this database provides an excellent platform for the research of neural molecular biology and the pathogenesis of related diseases.


Subject(s)
Humans , Database Management Systems , Databases, Nucleic Acid , Databases, Protein , Gene Expression Profiling , Nervous System , Proteins , Chemistry
4.
Chinese Journal of Tissue Engineering Research ; (53): 6298-6301, 2007.
Article in Chinese | WPRIM | ID: wpr-407808

ABSTRACT

BACKGROUND:Researches on attentional blink (AB) emphasized the importance of the distractors directly following targets and that of the leading distractors in rapid serial visual presentation (RSVP) streams in the production of the AB,but little has been mentioned about the subsequent distractors after the second target (except the one in direct succession to it).OBJECTIVE: To investigate the effect of subsequent distractors in RSVP stream on AB after the second target (T2).DESIGN: A randomized and controlled study.SETTING: Laboratory of Cognitive Science, South-central University for Nationalities.PARTICIPANTS: Twenty-five undergraduates aging 18-21 years with the mean age of 19 years were selected from South-central University for Nationalities. All undergraduates participated in the experiment did not have nervous mental diseases but had normal sight or corrected visual acuity; meanwhile, all of them provided the confirmed consent. The subjects were divided into experimental group (n =14) and control group (n =11). There were no significant differences between the two groups in age and sex (P > 0.05).METHODS: The experiment was carried out in the Laboratory of Cognitive Science, South-central University for Nationalities from January to April 2007. ① Experimental intervention: The stimuli were RSVP streams consisted of digit distractors and two letter targets (T1 and T2). ② Experimental grouping: The experimental group participated in the omitted condition and the control group participated in the preserved condition. ③ Experimental analysis: One-way ANOVA was used to evaluate the data for statistically significant difference in the same group, and t test was used to compare data between two groups.MAIN OUTCOME MEASURES: Report accuracy of T1 and T2.RESULTS: A total of 25 subjects were involved in the final analysis. ① Report accuracy in the preserved condition:Correct identification of the first target, averaged across all lags, was 94.6%. The percentages of correct identification of the second target as a function of lag was high at Lag1 (92.7%), dropped dramatically at Lag2 (79.8%), then kept improving with increase of lag, revealing a significant effect of lag [F(4,40) = 10.98, P< 0.01]. ② Report accuracy in the omitted condition: Correct identification of the first target T1, averaged across all lags, was 96.2%. The percentages of correct identification of the second target as a function of lag, T2 report was high at Lag1 (94.4%), decreased at Lag2(84.4%), then improved at Lag3 (91.1%), but dropped remarkably again at Lag5 and Lag7 (44.9 vs. 43.9%), revealing a significant effect of lag [F (4,52) = 224.0, P < 0.01]. ③ Comparison of the results in two conditions: T2 accuracy in the omitted condition was significantly lower than that in the preserved condition at Lag5 [t (23)=34.44, P < 0.01], and Lag7 [t (23)=42.56, P < 0.01], but did not differ from each other at Lag1 [t (23)=0.65, P > 0.05], at Lag2 [t (23)=1.04, P >0.05], and at Lag3 [t (23)=0.64, P > 0.05].CONCLUSION: The absence of subsequent distractors after T2 can introduce a bias on the attentional status of subjects to bring the T2 accuracy down to unusual low level at long lags.

5.
Chinese Medical Equipment Journal ; (6)1989.
Article in Chinese | WPRIM | ID: wpr-583604

ABSTRACT

This paper introduces a virtual instrument based on VC++, which can be used to measure the working memory capacity of visual modality, auditory modality and mixed modalities, thus a convenient and cheap method for working capacity measurement in clinical and psychological applications is provided.

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