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1.
Chinese Journal of Natural Medicines (English Ed.) ; (6): 100-111, 2021.
Article in English | WPRIM | ID: wpr-881051

ABSTRACT

Huatan Jiangzhuo decoction (HJD) is a combination of six traditional Chinese medicines that were used for lipid metabolism-related disorders, but its efficacy and underlying mechanisms have not been explored by modern research strategies. This study aimed to investigate the therapeutic role of HJD in determining the transcriptome level. Hyperlipidemia model was established by feeding Sprague-Dawley rats with high-fat diet. Differentially expressed genes (DEGs) were detected by high-through transcriptome sequencing, followed by gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis. The total cholesterol (TC) and triglyceride (TG) levels in hyperlipidemia model rats were significantly increased, whereas high-density lipoprotein (HDL) concentration decreased when compared to normal rats, and HJD significantly downregulated TC concentrations and liver coefficient in the hyperlipidemia rats. Histology staining showed that HDJ greatly recovered the lipid accumulation in rat hepatic stellate cells and aortic arch vascular wall thickness of hyperlipidemia rats. One thousand nine hundred and thirty-six DEGs were identified in the HJD-treated hyperlipidemia rats, which were associated with various biological processes and signaling pathways such as peroxisome proliferator-activated receptors, AMP-activated Protein Kinase , and insulin signaling pathways. Quantitative reverse transcription-polymerase chain reaction further confirmed the downregulated expression of cholesterol 7-α-hydroxylase(CYP7A1), liver orphan receptor(LXRα),peroxisome proliferator-activated receptor gamma(PPARγ),andSterol Response Element-Binding Protein 1c(SREBP1c) genes in hyperlipidemia rats treated with HJD. Our data first elucidated the gene expression profile of high-fat diet-induced hyperlipidemia in rats after HJD treatment, and lipid metabolism-related genes (CYP7A1, LXRα, PPARγ, and SREBP1c) may be potentially biomarkers for HJD-alleviated hyperlipidemia.

2.
Chinese journal of integrative medicine ; (12): 515-520, 2019.
Article in English | WPRIM | ID: wpr-771421

ABSTRACT

BACKGROUND@#Phlegm and blood stasis syndrome (PBSS) is one of the main syndromes in coronary heart disease (CHD). Syndromes of Chinese medicine (CM) are lack of quantitative and easy-implementation diagnosis standards. To quantify and standardize the diagnosis of PBSS, scales are usually applied.@*OBJECTIVE@#To evaluate the diagnostic accuracy of CM diagnosis scale of PBSS in CHD.@*METHODS@#Six hundred patients with stable angina pectoris of CHD, 300 in case group and 300 in control group, will be recruited from 5 hospitals across China. Diagnosis from 2 experts will be considered as the "gold standard". The study design consists of 2 phases: pilot test is used to evaluate the reliability and validity, and diagnostic test is used to assess the diagnostic accuracy of the scale, including sensitivity, specificity, likelihood ratio and area under the receiver operator characteristic (ROC) curve.@*DISCUSSION@#This study will evaluate the diagnostic accuracy of CM diagnosis scale of PBSS in CHD. The consensus of 2 experts may not be ideal as a "gold standard", and itself still requires further study. (No. ChiCTR-OOC-15006599).

3.
Chinese Journal of Medical Genetics ; (6): 570-572, 2012.
Article in Chinese | WPRIM | ID: wpr-232254

ABSTRACT

<p><b>OBJECTIVE</b>A R1210C mutation of complement factor H (CFH) gene has been associated with age-related macular degeneration (AMD) in Caucasian population. This study was to verify above association in Han Chinese population.</p><p><b>METHODS</b>The mutation was detected by direct sequencing in 258 patients with wet AMD and 426 matched controls.</p><p><b>RESULTS</b>The R1210C mutation has not been identified in either sample.</p><p><b>CONCLUSION</b>The R1210C mutation in CFH gene is not associated with AMD in Han Chinese population.</p>


Subject(s)
Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Complement Factor H , Genetics , Macular Degeneration , Genetics , Mutation
4.
Chinese Journal of Medical Genetics ; (6): 542-545, 2009.
Article in Chinese | WPRIM | ID: wpr-287378

ABSTRACT

<p><b>OBJECTIVE</b>To identify the mutation in the PAX6 gene in a family with congenital aniridia and cataract.</p><p><b>METHODS</b>Total genomic DNA was extracted from peripheral blood leukocytes of 12 family members including three living affected members and 96 unrelated healthy controls. The coding exons 4-13 of the PAX6 gene with intronic flanking sequences were amplified by polymerase chain reaction (PCR). By comparing sequences of the affected members with that of normal individuals, the disease-causing mutation was detected by direct DNA sequencing.</p><p><b>RESULTS</b>A PAX6 mutation was identified in the 3 patients, which did not exist in the unaffected members and unrelated healthy individuals. The nonsense mutation of C to T was detected at the nucleotide 1143, which converted the Arg codon (CGA) to a stop codon(TGA) (R261X) in exon 10.</p><p><b>CONCLUSION</b>The mutation (R261X) detected in the present study is considered to result in the occurrence of congenital aniridia and cataract in the Chinese family.</p>


Subject(s)
Humans , Male , Amino Acid Sequence , Aniridia , Genetics , Asian People , Genetics , Base Sequence , Cataract , Genetics , Codon, Nonsense , Eye Proteins , Genetics , Homeodomain Proteins , Genetics , Molecular Sequence Data , PAX6 Transcription Factor , Paired Box Transcription Factors , Genetics , Pedigree , Repressor Proteins , Genetics
5.
Chinese Journal of Experimental and Clinical Virology ; (6): 464-466, 2009.
Article in Chinese | WPRIM | ID: wpr-325510

ABSTRACT

<p><b>OBJECTIVE</b>To analyse the epidemiological and clinical characteristics of different pathogenesis type cases, severe and common cases of hand, foot and mouth disease.</p><p><b>METHODS</b>Descriptive epidemic method was used to analyse the epidemiological and clinical characteristics of laboratory-confirmed cases with hand,foot and mouth disease.</p><p><b>RESULTS</b>The epidemiological characteristics 113 cases were the same as epidemic situation at the same time in Anji county. Clinical characteristics were difference in different pathogenesis type cases, severe and common cases of hand, foot and mouth disease.</p><p><b>CONCLUSION</b>Prevention and control work taken should according to the characteristics of the disease, such as early identification of severe cases, handling and controlling over the outbreaks in order to reduce the severe cases and the death.</p>


Subject(s)
Child , Child, Preschool , Female , Humans , Infant , Male , China , Epidemiology , Enterovirus , Genetics , Epidemiologic Studies , Hand, Foot and Mouth Disease , Epidemiology , Mortality , Pathology , Virology
6.
Chinese Journal of Medical Genetics ; (6): 59-62, 2008.
Article in Chinese | WPRIM | ID: wpr-229820

ABSTRACT

<p><b>OBJECTIVE</b>To identify the mutations in the gap junction protein alpha3/alpha8 gene (GJA3 or GJA8) in the Chinese family with autosomal dominant congenital cataract (ADCC).</p><p><b>METHODS</b>All subjects(5 family members and 100 unrelated control individuals)were undergone comprehensive ophthalmic examination, and genomic DNA was extracted from peripheral blood (5 mL). The exons and flanking introns of GJA3/GJA8 genes were amplified by polymerase chain reaction (PCR). Purified PCR products were then sequenced directly for screening disease-causing mutations.</p><p><b>RESULTS</b>Upon bidirectional sequence analysis, a G-->A transition at nucleotide 138 (c.138G>A)in exon 2 of GJA8 was found, resulting in synonymous mutation of glycine (GGG) to glycine (GGA). An additional G-->T transvertion at nucleotide 139 (c.139G>T) in exon 2 of GJA8, resulting in a missense mutation of asparagines (GAU) to tyrosine (UAU) at codon 47 (D47Y). These two alterations were not seen in all unaffected members and 100 unrelated control individuals. Bioinformatic analyses also showed that a highly conserved region was located at Asp47. Meanwhile no sequence variations for GJA3 were detected from the 3 affected members.</p><p><b>CONCLUSION</b>A novel disease-causing mutation (D47Y) of GJA8 gene in a Chinese family with ADCC is reported.</p>


Subject(s)
Child, Preschool , Female , Humans , Male , Amino Acid Sequence , Asian People , Genetics , Base Sequence , Case-Control Studies , Cataract , Genetics , Connexins , Chemistry , Genetics , Conserved Sequence , Exons , Genetics , Eye Proteins , Chemistry , Genetics , Family , Genes, Dominant , Genetics , Molecular Sequence Data , Mutation , Pedigree
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