1.Clinical comparative analysis of juvenile dermatomyositis and adult dermatomyositis
Hong YU ; Chunxiao LI ; Chengyi JIANG ; Ruhong CHENG ; Peizhen HUANG ; Zhen ZHANG ; Dongbao ZHAO
Journal of Clinical Pediatrics 2015;(3):234-237
ObjectiveTo understand the difference in characteristics between juvenile dermatomyositis (JDM) and adult dermatomyositis (ADM).Methods Sixty-one cases of JDM were retrospectively analyzed and compared with 30 cases of ADM. Results The rashes were presented as the initial symptom in all expect one JDM patients. Gottron’s papules were presented in 90% JDM patients and 67% ADM patients. Calcium deposition was presented in 7% JDM patients and none of the ADM patients. The cardiovascular system was involved in 7 % JDM patients and 23% ADM patients. Cancer occurred in none of JDM patients and 13% ADM patients. In JDM and ADM patients, the ratio of elevated muscle enzymes from highest to lowest was LDH, hy-droxybutyric acid enzyme, CK-MB, AST, and CK. The positive ratio of magnetic resonance (MRI) all exceeded 80% in JDM and ADM groups. Two cases died in each group.Conclusions The clinical presentation of JDM is basically the same as that of ADM. The most common initial symptoms in JDM are skin rashes and Gottron's papules. Cardiovascular disease and cancer are less in JDM than in ADM. MRI is valuable in the diagnosis of DM.
2.Prevalence of atopic dermatitis, ichthyosis and filaggrin mutations in adolescents in a middle school in Shanghai
Qiufang QIAN ; Ruhong CHENG ; Ming LI ; Yifeng GUO ; Xia YU ; Zhen ZHANG ; Hong YU ; Huaishan QI ; Zhirong YAO
Chinese Journal of Dermatology 2015;(9):629-632
Objective To investigate the prevalence and progression process of atopic diseases in adolescents, and to assess their relationship with filaggrin(FLG)mutations. Methods Totally, 334 adolescents aged from 11 to 19 years in a middle school in shanghai were enrolled into this study. A clinical interview was carried out to determine the prevalence of atopic diseases (such as ichthyosis, atopic dermatitis (AD), asthma, rhinitis, etc)in these subjects. Peripheral blood samples were collected from 285 out of the 334 adolescents for screening for common FLG mutations, including 3321delA and K4671X. Five years later, these adolescents were followed up for reevaluation of clinical presentations of atopic diseases. Statistical analysis was carried out by the chi-square test with the SPSS 20.0 software. Results As the baseline survey showed, 19 (5.69%)of the 334 adolescents had AD, 14 (4.19%)had ichthyosis vulgaris, 36(10.78%)had allergic rhinitis, and 4(1.20%)had asthma. FLG mutations were observed in 24(8.42%) of the 285 adolescents. Five years later, 265 adoscents completed the follow-up, and 69 (20.66%)were lost to follow-up. Of the 265 adolescents reevaluated, 13(4.89%)had AD, 15(5.64%)had ichthyosis vulgaris, 27(10.15%)had allergic rhinitis, and 1 (0.38%)had asthma. By the time the second survey was performed, 6 out of the 19 patients initially diagnosed with AD had achieved complete regression, 13 had experienced a marked decrease in SCORing atopic dermatitis (SCORAD)score, and symptoms had disappeared in 9 of the 36 patients initially diagnosed with allergic rhinitis. The frequency of FLG mutations was 10.0%in patients with AD, 55.6%in those with ichthyosis, and 40.0%in those with both AD and ichthyosis, and the development of ichthyosis was associated with FLG mutations(P<0.001). Conclusions The frequency of common FLG mutations was 8.42%in these adolescents. FLG gene may be a semidominant gene associated with ichthyosis vulgaris, and multiple factors influence its expression.
3.Association of polymorphisms in the filaggrin gene with the occurrence and clinical phenotypes of atopic dermatitis
Hui ZHANG ; Ruhong CHENG ; Ming LI ; Zhirong YAO
Chinese Journal of Dermatology 2017;50(11):806-809
Objective To investigate the association of polymorphisms in the filaggrin (FLG)gene with the occurrence and clinical phenotypes of atopic dermatitis (AD).Methods A questionnaire survey was carried out to collect data from 261 patients with AD,including the diagnosis of allergic rhinitis and asthma,and the severity of AD.Mixed food allergen screening test and mixed inhaled allergen screening test were performed in a part of patients,so was the detection of total serum IgE and eosinophil cationic protein (ECP).Among the above AD patients and 276 healthy controls,17 polymorphic sites in exon 3 of the FLG gene,including R444G,T454A,P478S,H519N,D836D,S1482Y,A1805V,R1891Q,1961Q,S2166S,Y2194H,H2330H,D2339N,S2366T,E2398Q,K2444E and E2652D,were genotyped by overlapping PCR and DNA sequencing.Results Binary logistic regression analysis and chi-square test showed no correlations between the 17 polymorphic sites in the FLG gene and the occurrence of AD (all P > 0.05).However,the H519N polymorphic site was associated with AD complicated by asthma (x2 =8.680,P =0.011),and the AA genotype of H519N could increase the risk of asthma in the AD patients (P =0.004,OR =1.061,95% CI:1.016-1.109).The S2366T and K2444E polymorphic sites were associated with food sensitization in the AD patients (x2 =6.520,6.121,P =0.038,0.047,respectively),and the GG + CG genotype of S2366T (P =0.012,OR =1.396,95% CI:1.054-1.849)and its G allele (P =0.037,OR =1.350,95% CI:1.008-1.807) both could increase the risk of food sensitization in the AD patients.Similarly,the AA + GA genotype of K2444E (P =0.013,OR =1.393,95% CI:1.049-1.850)and its G allele (P =0.028,OR =1.380,95% CI:1.025-1.857) could increase the risk of food sensitization in the AD patients.Conclusions The FLG polymorphisms may be predisposing factors for some AD-related clinical phenotypes in Chinese Han population.The H519N gene may be associated with AD complicated by asthma,and the S2366T and K2444E genes may be related to food sensitization in AD patients.
4.Construction of phosphodiesterase 4D homozygous knockout mice
Zhenduo Zhu ; Tiantian Su ; Huijuan Cheng ; Chunru Jiang ; Ruhong Fang
Acta Universitatis Medicinalis Anhui 2023;58(2):208-213
Objective :
The CRISPR / Cas9 technology was applied to construct PDE4D homozygous knockout mice to provide a basis for in-depth investigation of PDE4D gene function and mechanism of action.
Methods:
A vector was constructed for PDE4D gene exon 4,5 microinjected into fertilized eggs of C57BL /6J mice,and PDE4D -/ - mice were obtained after maternal breeding and offspring mating,and the mice genotypes were determined by PCR product sequencing and genotype identification techniques.Changes in morphology and function of the major organs of the mice were detected using an ultrasound imaging system and H&E staining,and the expression of PDE4D protein in the mice was verified by Western blot assay.
Results :
The PDE4D -/ - mouse genotype was stably inherited, the mice were small,and there were no obvious morphological and histological changes in the major organs in vivo. The PDE4D expression was reduced or largely absent in the major tissues of PDE4D heterozygous or pure knockout mice,and the knockout effect was better.
Conclusion
PDE4D -/ - mice were successfully established using CRISPR / Cas9 technology,and no significant physiological abnormalities were found,which could be used for disease pathogenesis and drug research using PDE4D as the target.
5.Loss-of-function of sox3 causes follicle development retardation and reduces fecundity in zebrafish.
Qiang HONG ; Cong LI ; Ruhong YING ; Heming LIN ; Jingqiu LI ; Yu ZHAO ; Hanhua CHENG ; Rongjia ZHOU
Protein & Cell 2019;10(5):347-364
Folliculogenesis is essential for production of female gametes in vertebrates. However, the molecular mechanisms underlying follicle development, particularly apoptosis regulation in ovary, remain elusive. Here, we generated sox3 knockout zebrafish lines using CRISPR/Cas9. sox3 knockout led to follicle development retardation and a reduced fecundity in females. Comparative analysis of transcriptome between sox3 and wild-type ovaries revealed that Sox3 was involved in pathways of ovarian steroidogenesis and apoptosis. Knockout of sox3 promoted follicle apoptosis and obvious apoptosis signals were detected in somatic cells of stages III and IV follicles of sox3 ovaries. Moreover, Sox3 can bind to and activate the promoter of cyp19a1a. Up-regulation of Cyp19a1a expression promoted 17β-estradiol synthesis, which inhibited apoptosis in follicle development. Thus, Sox3 functions as a regulator of Cyp19a1a expression, via 17β-E2 linking apoptosis suppression, which is implicated in improving female fecundity.