Vitiligo is an autoimmune disease with a strong genetic component, characterized by areas of depigmented skin resulting from loss of epidermal melanocytes. Genetic factors are known to play key roles in vitiligo through discoveries in association studies and family studies. Previously, vitiligo susceptibility genes were mainly revealed through linkage analysis and candidate gene studies. Recently, our understanding of the genetic basis of vitiligo has been rapidly advancing through genome-wide association study (GWAS). More than 40 robust susceptible loci have been identified and confirmed to be associated with vitiligo by using GWAS. Most of these associated genes participate in important pathways involved in the pathogenesis of vitiligo. Many susceptible loci with unknown functions in the pathogenesis of vitiligo have also been identified, indicating that additional molecular mechanisms may contribute to the risk of developing vitiligo. In this review, we summarize the key loci that are of genome-wide significance, which have been shown to influence vitiligo risk. These genetic loci may help build the foundation for genetic diagnosis and personalize treatment for patients with vitiligo in the future. However, substantial additional studies, including gene-targeted and functional studies, are required to confirm the causality of the genetic variants and their biological relevance in the development of vitiligo.
Superficial skin erosion wounds are very common in the clinic, and conventional treatments are not always effective; thus, effective and novel therapy is needed. Cold atmospheric plasma (CAP) has been recognised as a promising approach to wound healing. The purpose of this study is to show the potential clinical application of CAP for the healing of different kinds of superficial skin wounds. Seven patients with different kinds of superficial skin wounds (two patients with pyoderma gangrenosum, two patients with trauma would, one patient with giant genital wart, one patient with diabetic foot, and one patient with chronic eczema) were recruited to this study. All patients accepted and received CAP treatment every other day till the wound healed. The expected results were complete wound healing after CAP treatment. All patients achieved complete wound healing after several rounds (range from two to eight) of CAP treatment, and there was no side effect observed. CAP may provide a new and effective choice to solve the problem of the healing of superficial wounds that are not only caused by trauma but also because of eczema. CAP has certain value in the treatment of superficial skin diseases in the future.
Background: Artificial intelligence (AI) has become a powerful tool and is attracting more attention in the field of medicine. There are a number of AI studies focusing on skin diseases, and there are many AI products that have been applied in dermatology. However, the attitudes of dermatologists, specifically those from China, towards AI, is not clear as few, if any studies have focused on this issue.Methods: A web-based questionnaire was designed by experts from the Chinese Skin Image Database (CSID) and published on the UMER Doctor platform (an online learning platform for dermatologists developed by the Shanghai Wheat Color Intelligent Technology Company, China). A total of 1,228 Chinese dermatologists were recruited and provided answers to the questionnaire online. The differences of dermatologists' attitudes towards AI among the different groups (stratified by age, gender, hospital level, education degree, professional title, and hospital ownership) were compared by using the Mann-Whitney U test and the Kruskal-Wallis H test. The correlations between stratified factors and dermatologists' attitudes towards AI were calculated by using the Spearman's rank correlation test. SPSS (version 22.0) was utilized for all analyses. A two-sided P value <0.05 was considered statistically significant in all analyses.Results: A total of 1,228 Chinese dermatologists from 30 provinces, autonomous regions, municipalities, and other regions (including Hong Kong, Macau, and Taiwan) participated in this survey. The dermatologists who participated acquired AI-related information mainly through the Internet, meetings or forums, and 70.51% of participated dermatologists acquired AI-related information by two or more approaches. In total, 99.51% of participated dermatologists pay attention (general, passive-active, and active attention) to information pertaining to AI. Stratified analyses revealed statistically significant differences in their attention levels (unconcerned, general, passive-active, and active attention) to AI-related information by gender, hospital level, education degree, and professional title (P values ≤1.79E−02). In total, 95.36% of the participated dermatologists thought the role of AI to be in "assisting the daily diagnosis and treatment activities for dermatologists". Stratified analyses about the thought of AI roles (unconcerned, useless, assist, and replace) showed that there was no statistically significant difference except for the hospital level (P value =4.09E−03). The correlations between stratified factors with attention levels and the opinions of AI roles showed extremely weak correlations. Furthermore, 64.17% of participated dermatologists thought secondary Original Article on Medical Artificial Intelligent Research Shen et al. Chinese dermatologists' attitudes towards AI
BackgroundPsoriasis is a chronic inflammatory skin disease characterized by epidermal hyperproliferation and altered keratinocyte differentiation and inflammation and is caused by the interplay of genetic and environmental factors. Previous studies have revealed that DNA methylation (DNAm) and genetic makers are closely associated with psoriasis, and strong evidences have shown that DNAm can be controlled by genetic factors, which attracted us to evaluate the relationship among DNAm, genetic makers, and disease status.MethodsWe utilized the genome-wide methylation data of psoriatic skin (PP, N = 114) and unaffected control skin (NN, N = 62) tissue samples in our previous study, and we performed whole-genome genotyping with peripheral blood of the same samples to evaluate the underlying genetic effect on skin DNA methylation. Causal inference test (CIT) was used to assess whether DNAm regulate genetic variation and gain a better understanding of the epigenetic basis of psoriasis susceptibility.ResultsWe identified 129 SNP-CpG pairs achieving the significant association threshold, which constituted 28 unique methylation quantitative trait loci (MethQTL) and 34 unique CpGs. There are 18 SNPs were associated with psoriasis at a Bonferoni-corrected P < 0.05, and these 18 SNPs formed 93 SNP-CpG pairs with 17 unique CpG sites. We found that 11 of 93 SNP-CpG pairs, composed of 5 unique SNPs and 3 CpG sites, presented a methylation-mediated relationship between SNPs and psoriasis. The 3 CpG sites were located on the body of C1orf106, the TSS1500 promoter region of DMBX1 and the body of SIK3.ConclusionsThis study revealed that DNAm of some genes can be controlled by genetic factors and also mediate risk variation for psoriasis in Chinese Han population and provided novel molecular insights into the pathogenesis of psoriasis.Electronic supplementary materialThe online version of this article (doi:10.1186/s13148-016-0297-z) contains supplementary material, which is available to authorized users.
BackgroundPsoriasis (Ps) is a common chronic inflammatory skin disease. The keratinocytes of psoriatic skin defy normal apoptosis and exhibit active cell proliferation. Aberrant DNA methylation (DNAm) has been suggested relevant through regulating the expression of Ps susceptibility genes. However, it is unclear whether the biological age inferred from DNA methylome is affected.ResultsTo address the above issue, we applied a recently developed methylation clock model to our Chinese Han population dataset, which includes DNAm data of 114 involved psoriatic skin tissues (PP) and 41 uninvolved psoriatic skin tissues (PN) from Ps patients, and 62 normal skin tissues (NN) from health controls. We first confirmed the applicability of the clock in PN and NN. We then showed that PP samples have largely unchanged DNAm age, and that no association was observed between available clinical features and DNAm age acceleration. Examination of genome-wide CpGs yielded age-associated CpGs with concordant age-association coefficients among the three groups, which was also supported by an external dataset. We also interestingly observed two clock CpGs differentially methylated between PP and PN.ConclusionsOverall, our results suggest no significant alteration in DNAm age in PN and PP. Therefore, the increase in keratinocyte proliferation and alteration in DNAm caused by Ps may not affect the biological age of psoriatic skin tissue.Electronic supplementary materialThe online version of this article (10.1186/s13148-018-0584-y) contains supplementary material, which is available to authorized users.
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