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1.
Article in Chinese | WPRIM | ID: wpr-827757

ABSTRACT

OBJECTIVE@#To carry out genetic and metabolite analysis for an infant with cerebral creatine deficiency syndrome type 2 (CCDS2).@*METHODS@#Clinical data of the child was collected. Whole-exome sequencing was carried out to identify potential variants by next generation sequencing. Candidate variants were confirmed by Sanger sequencing. Metabolites were determined by tandem mass spectrometry and magnetic resonance spectroscopy. Treatment was carried out following the diagnosis and genetic counseling for the affected family.@*RESULTS@#Two novel heterozygous variants (c.289delC and c.392-1G>C) of the GAMT gene were identified in the proband, which were respectively inherited from her father and mother. In silico analysis suggested both variants to be pathogenic. Creatine (Cr) level of the child was very low, and cerebral guanidinoacetate (GAA) level was slightly increased. But both had recovered to normal in two weeks, and cerebral Cr level was significantly improved after two months. Intellectual and motor development of the child were significantly improved.@*CONCLUSION@#The child was diagnosed with CCDS type 2, for which pathogenic variants of the GAMT gene may be accountable. Treatment has attained a satisfactory effect for the patient.

2.
Article in Chinese | WPRIM | ID: wpr-486847

ABSTRACT

Objective To identify the association of thyroid stimulating hormone receptor ( TSHR ) gene intron 1 susceptible loci and 4p14 susceptible locus rs6832151 polymorphisms with Graves’ disease ( GD) in Han Chinese population in Bengbu, Anhui, China. The gene-gene interaction among TSHR intron 1 susceptible loci and 4p14 susceptible locus rs6832151 was also investigated. Methods The genotypes of the single-nucleotide polymorphisms ( SNPs) were analyzed by Taqman probe technique on Fluidigm EP1 platform in 611 patients with GD and 555 control subjects, and linkage analysis, correlation analysis, haplotype analysis, and epistasis analysis with them were performed. Results Six SNPs in two candidate genes(rs12101261, rs4903964,rs179247, rs2284722 and rs17111394 in TSHR, rs6832151 in 4p14) were associated with GD (all P<0. 05). The frequency distributions of haplotypes of SNPs in TSHR intron 1 ( AGTA, GGCG, AATA, and CC) were significantly different between GD and control groups(all P<0. 01). There existed the interactions between rs179247 and rs12101261 in TSHR(P=0. 001) and among rs179247(TSHR),rs4903964(TSHR) and rs6832151(4p14) (P=0. 001). Conclusions rs683215 in 14p14 and rs12101261, rs4903964, rs179247, rs2284722 and rs17111394 in TSHR intron 1 were susceptible loci of GD in the Chinese Han population from Bengbu. The haplotypes in TSHR intron 1 were associated with GD. There exists the interaction between the SNPs in TSHR and 4p14,which may change the risk of GD.

3.
Article in Chinese | WPRIM | ID: wpr-478748

ABSTRACT

[Summary] The genotypes of rs6832151 in the 4p14 were genotyped by Taqman probe technique on FluidigmEPl platform in 617 patients with Graves′disease( GD) and 4 915 health control subjects. The result showed thatRs6832151 Gin4p14wasstronglyassociatedwithGD(OR=1.39,P0. 05). The result suggests that rs6832151 G in 4p14 is the susceptibility genes of Graves′ disease in Bengbu population, and is related to the high risk of GD.

4.
Article in Chinese | WPRIM | ID: wpr-437767

ABSTRACT

Objective To explore the effects of comprehensive rehabilitation on patients with stable chronic obstructive pulmonary disease (COPD) in rural communities.Methods Between June 2010 and June 2012,212 stable COPD patients were randomly divided into management group (n =107) and control group (n =105).All patients received conveutional treatment.In addition,107 stable COPD patients relying on new rural cooperative medical service station in management group underwent community comprehensive rehabilitation including training in respiratory function,exercise training,nutrition intervention and psychological care.Effect of lung function,symptoms (times of acute attack & hospitalization) and quality-of-life (QOL) rated by SF-36 questionnaire between two groups were recorded at Month 6.Results The score changes of QOL had significant inter-group differences between 2 groups for PCS (scores for physical component summary) and MCS (scores for mental component summary) (11.4 ±8.2 vs.1.6 ± 1.2,5.5 ±3.5 vs.2.2 ±0.9,all P <0.01).In the scores for physical component summary,the score change of physical function,physiological function,body pain and general health were significantly different between two groups (6.7 ±4.3 vs.1.2 ±0.8,10.9 ±6.3 vs.1.9 ± 1.5,6.4 ±4.7 vs.3.6 ±2.7,3.2 ±2.7 vs.1.6 ± 1.1,P < 0.01).In the scores for mental component summary,the score change of vitality,emotional function,social function and mental health were significantly different between two groups (4.9±3.2 vs.1.9±1.4,2.7±2.1 vs.1.6±1.1,11.6 ±9.2 vs.3.6 ±2.3,6.7 ±4.3 vs.1.4±0.9,P<0.01).The times of acute attack and hospitalization were obviously lower than those of the control group.No significant inter-group difference existed in lung function.Conclusion Comprehensive rehabilitation may improve the QOL in stable COPD patients in rural communities and reduce their times of acute attack.

5.
Article in Chinese | WPRIM | ID: wpr-418627

ABSTRACT

Objective To investigate the association between the six single nucleotide polymorphisms ( SNP),named as rs179247,rsl2101261,rs2284722,rs4903964,rs2300525,rsl7111394 in the intron 1 of thyroid stimulating hormone receptor gene (TSHR) and Graves' disease (GD).MethodsThe genotypes of the six SNPs were genotyped by Taqman probe technique on Fluidigm EP1 platform in 618 GD patients and 646 control subjects.Meanwhile,TSH receptor antibodies (TRAb) of the patients were determined.ResultsAmong the six SNPs,five S NPs were strongly associated with GD,with the most signals at rs179247_G,rs12101261_C,rs4903964 _G (P=2.85×10-10,OR=1.73,95%CI1.46-2.05;P=1.74×10-10,OR=1.73,95%CI 1.46-2.05;P=2.24×10-10,OR=1.69,95% CI 1.44-1.99 ).The results of logistic regression analysis indicated that rs12101261 and rs4903964 were main susceptibility loci of GD in the intron 1 of TSHR.rs179247_G,rs1210126 1_C,and rs4903964_G were associated with subset of the GD patients with positive TRAb (P=4.24× 10-13,p=5.48× 10-13,P =3.89×10-12 ).Conclusionrs179247,rs12101261,and rs4903964 in TSHR intron 1 were significantly associated with GD in the Chinese Han population from Bengbu city.rs12101261 and rs4903964 were the major susceptibility SNPs associated with GD.TSHR gene may play a main role of susceptibility gene in the subset of GD patients with persistent positive TRAb.

6.
Chinese Journal of Geriatrics ; (12): 509-511, 2009.
Article in Chinese | WPRIM | ID: wpr-394254

ABSTRACT

Objective To investigate the prevalence rate of metabolic syndrome (MS) and its related diseases in Bengbu community residents. Methods 3246 residents aged from 25 to 74 years were chosen through cluster random sampling method, including 1459 males and 1787 females. MS and its related diseases were examined. Results (1) The prevalence rate and standardized rate of MS was 20. 5% and 16.0%, respectively, which reached higher level all over China. The prevalence rate of male and female was 22. 9% and 18. 6%, respectively. The highest prevalence rate occurred in presenium patients. (2)The prevalences of various metabolic diseases were increased with aging except for overweigh/obesity and MS (P<0.01). The prevalence of various metabolic diseases was 1 times higher in elderly patients than that in young patients, and the prevalence rate of MS in male and female increased to 2.8 times and 2.7 times, respectively. The prevalence rate of type 2 diabetes mellitus increased biggest, male to 7.9 times and female to 12.8 times compared with the original level. (3) The multiple components clustering rate of MS was high, only 33.8% of individuals had no metabolic disorder. Conclusions The prevalence rates of MS and its related diseases are high in Bengbu community residents. It is necessary to take comprehensive measures to prevent and control MS in community.

7.
Article in Chinese | WPRIM | ID: wpr-381707

ABSTRACT

Objectivo To analyze urine organic acids in the urine using gas chromatography-mass spectrometry(GC/MS)for diagnosis of inherited metabolic diseases,especially for organic acids metabolic disorders.Methods 195 clinical urine samples from the patients with suspected organic acids metabolic disorders and 5 normal urine from adults were collected.After mixing some urine with intemal standards according to the concentration creatinine and adding hydroxylamine hydrochloride to mixture,the organic acids with hydroxyl group were oximated to the ketobodies.Organic acids were extracted twice with ethyl acetate and ethyl ether and derivatized with BSTFA-TMCS.An the organic acids were determined with Agilent GC/MS 6890/5973i with scan model.the mass-to-charge ratio range is 50-550 m/z,all data were nalyzed with Agilent GCMSD ChemStationG1701DA.We also investigated the linearity, accurate,precision.recovery and Carry-over by determining the internal standards in normal samples and positive organic acids in spiked control samples.Results More than one hundred kinds of organic acids in urine samples can be analyzed with this method.According to the two internal standards in normal urine samples,the minimal detection limit MMA and 2.PA was 2.5-2.8 μmol/L.Intra-and interassay coefficient of variation for MMA and 2-PA are both less than 10%.Pre-processing Interassay coefficient by sequential preparations of the same sample was 14%.The recoveries of the spiked samples were 95%-105%.Carryover analysis was less than 1%.All the parameters meet the requirement for clinical diagnosis.12 samples demonstrated positive including 6 cases of methylmalonic acidemia,1 case of propionic acidemia,3 cases of tyrosinemia Ⅰ,1 case of maple syrup urine disease and 1 cases of ketosis.Conclusions The method for the determination of organic acids in urine by GC/MS has been successfully established.It can be used for clinical screening and diagnosis for inherited genetic metabolic diseases.

8.
China Pharmacy ; (12)2007.
Article in Chinese | WPRIM | ID: wpr-531443

ABSTRACT

OBJECTIVE:To evaluate the economic effects of artesunate(ART)versus Quinine MAX(QUI)in treating malaria.METHODS:A total of 64 patients with malaria were randomly assigned to receive ART or QUI for 7 days,with cost-minimization analysis conducted on the 2 therapeutic scheme.RESULTS:The average cost for ART vs.QUI scheme was 341 yuan vs.485 yuan,showing significant differences between the 2 schemes(P0.05).CONCLUSION:The artesunate is preferable compared with QUI and could be popularized in poverty-striken area such as Africa.

9.
Article in Chinese | WPRIM | ID: wpr-538359

ABSTRACT

Using the technique of fluorescent-labled mRNA differential display, new apoptosis related gene 2ass-bnip3 of type 2 diabetic cardiomyopathy was found, the sequence of 1594 bp with coding 187 amino acids was obtained by the full-length clone, and its structural and functional predictions were performed. 2ass-bnip3 may play an important role in the development of diabetic cardiomyopathy via a regulatory pathway of calcium regulation and apoptosis.

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