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1.
Cell Death Dis ; 15(5): 341, 2024 May 16.
Article in English | MEDLINE | ID: mdl-38755133

ABSTRACT

The liver is a major metastatic site (organ) for gastrointestinal cancers (such as colorectal, gastric, and pancreatic cancers) as well as non-gastrointestinal cancers (such as lung, breast, and melanoma cancers). Due to the innate anatomical position of the liver, the apoptosis of T cells in the liver, the unique metabolic regulation of hepatocytes and other potential mechanisms, the liver tends to form an immunosuppressive microenvironment and subsequently form a pre-metastatic niche (PMN), which can promote metastasis and colonization by various tumor cells(TCs). As a result, the critical role of immunoresponse in liver based metastasis has become increasingly appreciated. T cells, a centrally important member of adaptive immune response, play a significant role in liver based metastases and clarifying the different roles of the various T cells subsets is important to guide future clinical treatment. In this review, we first introduce the predisposing factors and related mechanisms of liver metastasis (LM) before introducing the PMN and its transition to LM. Finally, we detail the role of different subsets of T cells in LM and advances in the management of LM in order to identify potential therapeutic targets for patients with LM.


Subject(s)
Liver Neoplasms , T-Lymphocytes , Humans , Liver Neoplasms/secondary , Liver Neoplasms/immunology , Liver Neoplasms/pathology , T-Lymphocytes/immunology , Animals , Tumor Microenvironment/immunology
2.
J Bone Miner Metab ; 42(3): 335-343, 2024 May.
Article in English | MEDLINE | ID: mdl-38801451

ABSTRACT

INTRODUCTION: Patients with multiple sclerosis (MS) commonly present musculoskeletal disorders characterized by lower bone mineral density (BMD) and muscle weakness. However, the underlying etiology remains unclear. Our objective is to identify shared pleiotropic genetic effects and estimate the causal relationship between MS and musculoskeletal disorders. MATERIALS AND METHODS: We conducted linkage disequilibrium score regression (LDSR), colocalization, and Mendelian randomization (MR) analyses using summary statistics from recent large-scale genome-wide association studies (GWAS), encompassing MS, falls, fractures, and frailty. Additional MR analyses explored the causal relationship with musculoskeletal risk factors, such as BMD, lean mass, grip strength, and vitamin D. RESULTS: We observed a moderate genetic correlation between MS and falls (RG = 0.10, P-value = 0.01) but not between MS with fracture or frailty in the LDSR analyses. MR revealed MS had no causal association with fracture and frailty but a moderate association with falls (OR: 1.004, FDR q-value = 0.018). We further performed colocalization analyses using nine SNPs that exhibited significant associations with both MS and falls in MR. Two SNPs (rs7731626 on ANKRD55 and rs701006 on OS9 gene) showed higher posterior probability of colocalization (PP.H4 = 0.927), suggesting potential pleiotropic effects between MS and falls. The nine genes are associated with central nervous system development and inflammation signaling pathways. CONCLUSION: We found potential pleiotropic genetic effects between MS and falls. However, our analysis did not reveal a causal relationship between MS and increased risks of falls, fractures, or frailty. This suggests that the musculoskeletal disorders frequently reported in MS patients in clinical studies are more likely attributed to secondary factors associated with disease progression and treatment, rather than being directly caused by MS itself.


Subject(s)
Accidental Falls , Fractures, Bone , Frailty , Genome-Wide Association Study , Mendelian Randomization Analysis , Multiple Sclerosis , Polymorphism, Single Nucleotide , Humans , Multiple Sclerosis/genetics , Frailty/genetics , Fractures, Bone/genetics , Fractures, Bone/epidemiology , Polymorphism, Single Nucleotide/genetics , Risk Factors , Bone Density/genetics , Linkage Disequilibrium/genetics , Female
3.
Dermatology ; : 1-10, 2024 Apr 10.
Article in English | MEDLINE | ID: mdl-38599182

ABSTRACT

INTRODUCTION: Pilomatrixoma is a benign skin neoplasm that is common in children and is often misdiagnosed. This study aimed to summarize the clinical and pathological features of pilomatrixoma in children. METHODS: Data on demographic information, clinical and pathological features, diagnosis, and treatment of 171 patients with pilomatrixoma from Shenzhen Baoan Women's and Children's Hospital were collected and analyzed retrospectively. RESULTS: The mean age of the patients was 5.7 (standard deviation [SD] = 3.9) years old, and there were 2 age peaks (≤1 year old, 5-11 years old) and 2 age valleys (2-4 years old, ≥12 years old). The mean disease course was 9.3 (SD = 14.1) months, 69.0%, 86.5%, and 95.3% of the patients' disease course in 6 months, 12 months, and 24 months, respectively. The mean tumor volume was 0.6 (SD = 1.0) cm3, and 81.3% of the patients' tumor volume ≤1.0 cm3. Tumors were distributed sequentially in the head and neck (77.2%), upper limbs (12.9%), trunk (7.6%), and lower limbs (2.3%). The correct rates of clinical and ultrasonic diagnosis were 50.9% and 38.6%, respectively. The two most common pathological features of pilomatrixoma were shadow cells (99.4%) and basaloid cells (94.7%). There were no significant differences in age, disease course, or tumor volume between the male and female patients (p > 0.05). The age and tumor volume of the patients in different body parts were significantly different (P1 = 3.10E-05 and P2 = 5.60E-05, respectively). The correlation between the disease course and tumor volume was positively significant (p ≤ 0.05). There was a significant correlation between the disease course and tumor volume in patients with tumors at upper limbs (p = 0.03). CONCLUSION: The age of children with pilomatrixoma presented 2 peaks and 2 valleys. Most patients had disease courses in 24 months and with tumor volumes ≤1.0 cm3. The correct rates of clinical and ultrasonic diagnosis were relatively low. The head and neck were the most common distribution sites of pilomatrixoma, and shadow cells and basaloid cells were the most common pathological features. The tumor volume was positively correlated with disease course in patients with pilomatrixoma.

4.
Front Med (Lausanne) ; 10: 1281540, 2023.
Article in English | MEDLINE | ID: mdl-38034527

ABSTRACT

Background: Bowen's disease (BD) is a slow-growing precancerous skin condition, often concurrent with other diseases, with a high misdiagnosis rate. Previous studies show that patients with BD in different populations have differentiated characteristics. Materials and methods: A retrospective study was conducted in a tertiary hospital in Shenzhen, China. Data about demographic information, diagnosis and treatment, clinical and pathological characteristics, and comorbidities of 50 patients with BD were collected and analyzed. Results: Clinical data of onset age and disease course of 43 patients with BD were available, the average onset age of male and female patients are 55.1 (standard deviation (SD) = 15.29) and 58.2 (SD = 15.59) years old, respectively; the average disease course of male and female patients are 25.3 (SD = 28.63) and 33.9 (SD = 49.65) months, respectively. The onset age (p = 0.52) and disease course (p = 0.49) between male and female patients are not significantly different. Interestingly, there is a negative correlation between onset age and disease course (r = -0.245, p = 0.11). The correct rate of clinical diagnosis is relatively low (54.00%); Some patients with BD are misdiagnosed as Bowenoid papulosis (10.00%), actinic keratosis (8.00%), basal cell carcinoma (8.00%), seborrheic keratosis (6.00%), and pigmented naevus (4.00%). Trunk and limbs are the most common distribution sites of BD lesions, and 94.00% patients with BD are treated with surgical resection; 66.00% patients with BD had comorbidities, including skin diseases (48.48%), cardiovascular diseases (39.39%), gastrointestinal diseases (30.30%), respiratory diseases (27.27%), and tumors (18.18%). The most commonly observed histopathological characteristics of BD are squamous-cell hyperplasia (86.00%), disordered maturation with atypical keratinocytes (74.00%), atypical mitoses (60.00%), hyperkeratosis with hypokeratosis (48.00%), dermal inflammatory cell infiltration (36.00%), and koilocytosis (22.00%). Conclusion: BD often occurs in middle-aged and elderly people and is easily misdiagnosed. The onset age and disease course of patients with BD are not significantly different between males and females, whereas there is a negative correlation between the onset age and disease course. BD is more likely to occur in trunk and limbs in the Chinese population, and most patients with BD are concurrent with comorbidities.

5.
medRxiv ; 2023 Sep 13.
Article in English | MEDLINE | ID: mdl-37745316

ABSTRACT

Background: Musculoskeletal disorders were commonly reported in patients with multiple sclerosis. However, the underlying etiology linking Multiple Sclerosis (MS) and musculoskeletal disorders is not well studied. With large-scale Genome-Wide Association Studies (GWAS) publicly available, we conducted genetic correlation analysis to identify shared pleiotropic genetic effects between MS and musculoskeletal traits. We also conducted Mendelian Randomization (MR) to estimate the causal relation between MS and increased risks of musculoskeletal disorders. Methods: Linkage Disequilibrium Score Regression (LDSR) analysis was performed to estimate heritability and genetic correlation. Univariable, multivariable, and bidirectional MR analyses were conducted to estimate the causal relation. These analyses were done by utilizing the recent GWAS summary statistics of MS, fracture, frailty, falls, and several musculoskeletal risk factors, including bone mineral density, lean mass, grip strengths, and vitamin D. Results: LDSR analysis showed a moderate genetic correlation of MS with falls (RG=0.10, p=0.01) but not with fracture and frailty. Genetic variants (rs13191659) in LINC00240 gene which is associated with iron status biomarkers was found to be associated with both MS and falls. In MR analyses after excluding outlier SNPs with potential pleiotropic effects and correcting for multiple testing, MS presented no causal association with fracture and frailty but a minimal association with falls. Falls showed causally increased risks of fracture and frailty. Conclusion: Our study suggests a potential genetic correlation with shared pleiotropic genetic effects between MS and falls. However, we didn't find evidence to support the causal relation between MS and increased risks of falls, fracture, and frailty.

6.
Genes Dis ; 10(6): 2320-2330, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37554186

ABSTRACT

N6-methyladenosine (m6A) is the most abundant internal modification on RNA. It is a dynamical and reversible process, which is regulated by m6A methyltransferase and m6A demethylase. The m6A modified RNA can be specifically recognized by the m6A reader, leading to RNA splicing, maturation, degradation or translation. The abnormality of m6A RNA modification is closely related to a variety of biological processes, especially the occurrence and development of tumors. Recent studies have shown that m6A RNA modification is involved in the pathogenesis of skin cancers. However, the precise molecular mechanisms of m6A-mediated cutaneous tumorigenesis have not been fully elucidated. Therefore, this review will summarize the biological characteristics of m6A modification, its regulatory role and mechanism in skin cancers, and the recent research progress of m6A-related molecular drugs, aiming to provide new ideas for clinical diagnosis and targeted therapy of cutaneous cancers.

7.
Front Genet ; 13: 929162, 2022.
Article in English | MEDLINE | ID: mdl-36118867

ABSTRACT

Psoriasis is an immune-mediated chronic inflammatory skin disease caused by a combination of environmental incentives, polygenic genetic control, and immune regulation. The inflammation-related gene absent in melanoma 2 (AIM2) was identified as a susceptibility gene for psoriasis. AIM2 inflammasome formed from the combination of AIM2, PYD-linked apoptosis-associated speck-like protein (ASC) and Caspase-1 promotes the maturation and release of inflammatory cytokines such as IL-1ß and IL-18, and triggers an inflammatory response. Studies showed the genetic and epigenetic associations between AIM2 gene and psoriasis. AIM2 gene has an essential role in the occurrence and development of psoriasis, and the inhibitors of AIM2 inflammasome will be new therapeutic targets for psoriasis. In this review, we summarized the roles of the AIM2 gene and AIM2 inflammasome in pathogenesis and treatment of psoriasis, hopefully providing a better understanding and new insight into the roles of AIM2 gene and AIM2 inflammasome in psoriasis.

8.
Ann Rheum Dis ; 2022 May 24.
Article in English | MEDLINE | ID: mdl-35609976

ABSTRACT

OBJECTIVE: Genome-wide association studies (GWAS) have identified >100 risk loci for systemic lupus erythematosus (SLE), but the disease genes at most loci remain unclear, hampering translation of these genetic discoveries. We aimed to prioritise genes underlying the 110 SLE loci that were identified in the latest East Asian GWAS meta-analysis. METHODS: We built gene expression predictive models in blood B cells, CD4+ and CD8+ T cells, monocytes, natural killer cells and peripheral blood cells of 105 Japanese individuals. We performed a transcriptome-wide association study (TWAS) using data from the latest genome-wide association meta-analysis of 208 370 East Asians and searched for candidate genes using TWAS and three data-driven computational approaches. RESULTS: TWAS identified 171 genes for SLE (p<1.0×10-5); 114 (66.7%) showed significance only in a single cell type; 127 (74.3%) were in SLE GWAS loci. TWAS identified a strong association between CD83 and SLE (p<7.7×10-8). Meta-analysis of genetic associations in the existing 208 370 East Asian and additional 1498 cases and 3330 controls found a novel single-variant association at rs72836542 (OR=1.11, p=4.5×10-9) around CD83. For the 110 SLE loci, we identified 276 gene candidates, including 104 genes at recently-identified SLE novel loci. We demonstrated in vitro that putative causal variant rs61759532 exhibited an allele-specific regulatory effect on ACAP1, and that presence of the SLE risk allele decreased ACAP1 expression. CONCLUSIONS: Cell-level TWAS in six types of immune cells complemented SLE gene discovery and guided the identification of novel genetic associations. The gene findings shed biological insights into SLE genetic associations.

9.
Front Genet ; 12: 735124, 2021.
Article in English | MEDLINE | ID: mdl-34899832

ABSTRACT

Psoriasis (PsO) is a chronic inflammatory skin disease that affects approximately 2% of the population all over the world. Comorbidities of PsO have increasingly garnered more interest in the past decades. Compared with the normal population, the incidences of comorbidities are higher among patients with PsO. In the last 20 years, researchers have focused on studying the genetic components of PsO, and genetic associations between PsO and its comorbidities were elucidated. This review provides an in-depth understanding and summarization of the connection between PsO and its comorbidities from the perspectives of epidemiology and genetics. Further understanding of PsO and its comorbidities will promote research on the pathogenesis, drug development, novel therapy methods, and personalized and precision treatment of PsO and its comorbidities.

11.
Cell Death Dis ; 12(11): 963, 2021 10 19.
Article in English | MEDLINE | ID: mdl-34667159

ABSTRACT

Psoriasis is an auto-inflammatory skin disease characterized by abnormal activation of epidermal keratinocytes, aberrant neovascularization, and dysregulation of immune cells. MicroRNAs are small non-coding RNAs that mainly function in the post-transcriptional regulation of gene expression. Recently, accumulating evidence has demonstrated that expression of microRNAs is dysregulated in psoriasis patients and microRNAs play key roles in psoriasis pathogenesis. Downregulation of miR-193b-3p has been identified to be associated with psoriasis development. However, the precise functions and action mechanisms of miR-193b-3p in psoriasis pathogenesis remain unclear. In this study, we confirmed the downregulation of miR-193b-3p in psoriasis patients, psoriasis-like inflammatory cellular models, and an imiquimod (IMQ) -induced mouse model. A negative correlation was found between miR-193b-3p level and patient Psoriasis Area and Severity Index (PASI) score. Furthermore, miR-193b-3p suppressed proliferation, inflammatory-factor secretion, and the STAT3 and NF-κB signaling pathways in keratinocytes. Importantly, intradermal injection of agomiR-193b-3p blocked, whereas antagomiR-193b-3p augmented, the psoriasis-like inflammation in the IMQ-induced mouse model. Bioinformatics analysis and the dual-luciferase reporter assay showed that miR-193b-3p targets ERBB4 3' untranslated region (UTR). In addition, ERBB4 induced proliferation, inflammatory-factor production, and the STAT3 and NF-κB pathways in keratinocytes. Most importantly, forced expression of ERBB4 could attenuate the effects of miR-193b-3p in keratinocytes, indicating that miR-193b-3p inhibits keratinocyte activation by directly targeting ERBB4. In conclusion, our findings demonstrated that the miR-193b-3p-ERBB4 axis underlies the hyperproliferation and aberrant inflammatory-factor secretion of psoriatic keratinocytes, providing a novel, microRNA-related causal mechanism and a potential therapeutic target in psoriasis.


Subject(s)
Inflammation Mediators/metabolism , Keratinocytes/metabolism , Keratinocytes/pathology , MicroRNAs/metabolism , Psoriasis/genetics , Psoriasis/pathology , Receptor, ErbB-4/metabolism , Animals , Antagomirs/pharmacology , Base Sequence , Cell Proliferation/genetics , Disease Models, Animal , Down-Regulation/genetics , Female , HaCaT Cells , Humans , Imiquimod/adverse effects , Inflammation/genetics , Inflammation/pathology , Male , Mice, Inbred C57BL , MicroRNAs/genetics , Models, Biological , Psoriasis/chemically induced , RNA, Messenger/genetics , RNA, Messenger/metabolism , Skin/pathology
12.
Front Med (Lausanne) ; 8: 692060, 2021.
Article in English | MEDLINE | ID: mdl-34262918

ABSTRACT

Objective: Dermoscopic features of cutaneous vascular anomalies have been reported, but the described features currently known are limited and not well-understood. The aim of this study is to comprehensively summarize and compare the dermoscopic features of the four different types of cutaneous vascular anomalies [infantile hemangiomas (IH), cherry angioma (CA), angiokeratomas (AK), and pyogenic granuloma (PG)] in the Chinese Han population. Materials and Methods: Dermoscopic features of 31 IH, 172 CA, 31 AK, and 45 PG were collected based on the contact non-polarized mode of dermoscopy at 20-fold magnification. Dermoscopic features including background, lacunae, vessel morphology and distribution were collected and summarized. Additionally, we compared these features by age stage, gender, and anatomical locations in CA. Results: The dermoscopic features of IH included the red lacunae, red/red-blue/red-white backgrounds, and vessel morphology such as linear curved vessels, serpiginous vessels, coiled vessels. For CA, the lacunae appeared reddish brown to reddish blue or only red. In terms of vascular morphology, serpentine vessels, coiled vessels, looped vessels, and curved vessels could be seen in the lesions. A few lesions were black or presented with a superficial white veil. There were statistical differences in red background (P = 0.021), unspecific vessel distribution (P = 0.030), black area (P = 0.029), and white surface (P = 0.042) among different age groups. Red-brown lacunae (P = 0.039), red-blue (P = 0.013), red-white background (P = 0.015), black area (P = 0.016), and white surface (P = 0.046) were of statistical difference in terms of the locations of lesions. Lacunae were also observed in AK, which presented with red, dark purple, dark blue, black. Global dermoscopic patterns that were characterized by a homogeneous area were obvious in all PG lesions, among which 30 (66.7%) were red-white and 15 (33.3%) were red. As for local features, "white rail" lines were detected in 19 (42.2%) lesions and white collarette was seen in 34 (75.6%) lesions. Conclusions: Dermoscopy is an applicable diagnostic tool for the diagnosis of cutaneous vascular anomalies. It is necessary to take into account the age stage and lesion location when we diagnose CA using dermoscopy.

13.
Chin Med J (Engl) ; 134(10): 1191-1198, 2021 Apr 14.
Article in English | MEDLINE | ID: mdl-34018997

ABSTRACT

BACKGROUND: The prevalence of skin diseases and diabetes mellitus (DM) are prominent around the world. The current scope of knowledge regarding the prevalence of skin diseases and comorbidities with type 2 DM (T2DM) is limited, leading to limited recognition of the correlations between skin diseases and T2DM. METHODS: We collected 383 subjects from the Da Qing Diabetes Study during the period from July 9th to September 1st, 2016. The subjects were categorized into three groups: Normal glucose tolerance (NGT), impaired glucose tolerance (IGT), and T2DM. The prevalence and clinical characteristics of skin diseases were recorded and investigated. RESULTS: In this cross-sectional study, 383 individuals with ages ranging from 53 to 89-year-old were recruited. The overall prevalence of skin diseases was 93.5%, and 75.7% of individuals had two or more kinds of skin diseases. Additionally, there were 47 kinds of comorbid skin diseases in patients with T2DM, of which eight kinds of skin diseases had a prevalence >10%. The prevalence of skin diseases in NGT, IGT, and T2DM groups were 93.3%, 91.5%, and 96.6%, respectively; stratified analysis by categories showed a statistically significant difference in "disturbances of pigmentation" and "neurological and psychogenic dermatoses". The duration of T2DM also significantly associated with the prevalence of "disturbances of pigmentation" and "neurological and psychogenic dermatoses". Subsequently, the prevalence of "disturbances of pigmentation" was higher in males than females in NGT (P < 0.01) and T2DM (P < 0.01) groups. In addition, the difference in the prevalence of "disturbances of pigmentation" was also significant in NGT and T2DM groups (P < 0.01). CONCLUSIONS: There was a high prevalence of skin diseases in the Da Qing Diabetes Study. To address the skin diseases in the Da Qing Diabetes Study, increased awareness and intervention measures should be implemented.


Subject(s)
Diabetes Mellitus, Type 2 , Glucose Intolerance , Skin Diseases , Aged , Aged, 80 and over , Blood Glucose , Cross-Sectional Studies , Diabetes Mellitus, Type 2/epidemiology , Female , Glucose Intolerance/epidemiology , Glucose Tolerance Test , Humans , Male , Middle Aged , Skin Diseases/epidemiology
14.
J Invest Dermatol ; 141(7): 1745-1753, 2021 07.
Article in English | MEDLINE | ID: mdl-33607116

ABSTRACT

Psoriasis is a complex, chronic inflammatory skin disease characterized by keratinocyte hyperproliferation and a disordered immune response; however, its exact etiology remains unknown. To better understand the regulatory network underlying psoriasis, we explored the landscape of chromatin accessibility by using an assay for transposase-accessible chromatin using sequencing analysis of 15 psoriatic, 9 nonpsoriatic, and 19 normal skin tissue samples, and the chromatin accessibility data were integrated with genomic, epigenomic, and transcriptomic datasets. We identified 4,915 genomic regions that displayed differential accessibility in psoriatic samples compared with both nonpsoriatic and normal samples, nearly all of which exhibited an increased accessibility in psoriatic skin tissue. These differentially accessible regions tended to be more hypomethylated and correlated with the expression of their linked genes, which comprised several psoriasis susceptibility loci. Analyses of the differentially accessible region sequences showed that they were most highly enriched with FRA1 and/or activator protein-1 transcription factor DNA-binding motifs. We also found that AIM2, which encodes an important inflammasome component that triggers skin inflammation, is a direct target of FRA1 and/or activator protein-1. Our study provided clear insights and resources for an improved understanding of the pathogenesis of psoriasis. These disease-associated accessible regions might serve as therapeutic targets for psoriasis treatment in the future.


Subject(s)
Chromatin/metabolism , Gene Regulatory Networks/immunology , Psoriasis/genetics , Transposases/metabolism , Case-Control Studies , Chromatin Immunoprecipitation Sequencing/statistics & numerical data , DNA Methylation , Datasets as Topic , Epigenomics , Female , Humans , Inflammasomes/genetics , Inflammasomes/immunology , Male , Psoriasis/immunology , Psoriasis/pathology , RNA-Seq/statistics & numerical data , Skin/immunology , Skin/pathology
15.
Ann Rheum Dis ; 80(5): 632-640, 2021 05.
Article in English | MEDLINE | ID: mdl-33272962

ABSTRACT

OBJECTIVE: Systemic lupus erythematosus (SLE), an autoimmune disorder, has been associated with nearly 100 susceptibility loci. Nevertheless, these loci only partially explain SLE heritability and their putative causal variants are rarely prioritised, which make challenging to elucidate disease biology. To detect new SLE loci and causal variants, we performed the largest genome-wide meta-analysis for SLE in East Asian populations. METHODS: We newly genotyped 10 029 SLE cases and 180 167 controls and subsequently meta-analysed them jointly with 3348 SLE cases and 14 826 controls from published studies in East Asians. We further applied a Bayesian statistical approach to localise the putative causal variants for SLE associations. RESULTS: We identified 113 genetic regions including 46 novel loci at genome-wide significance (p<5×10-8). Conditional analysis detected 233 association signals within these loci, which suggest widespread allelic heterogeneity. We detected genome-wide associations at six new missense variants. Bayesian statistical fine-mapping analysis prioritised the putative causal variants to a small set of variants (95% credible set size ≤10) for 28 association signals. We identified 110 putative causal variants with posterior probabilities ≥0.1 for 57 SLE loci, among which we prioritised 10 most likely putative causal variants (posterior probability ≥0.8). Linkage disequilibrium score regression detected genetic correlations for SLE with albumin/globulin ratio (rg=-0.242) and non-albumin protein (rg=0.238). CONCLUSION: This study reiterates the power of large-scale genome-wide meta-analysis for novel genetic discovery. These findings shed light on genetic and biological understandings of SLE.


Subject(s)
Asian People/genetics , Genetic Loci/genetics , Genetic Predisposition to Disease/ethnology , Lupus Erythematosus, Systemic/ethnology , Lupus Erythematosus, Systemic/genetics , Adult , Bayes Theorem , Case-Control Studies , China/epidemiology , China/ethnology , Asia, Eastern/ethnology , Female , Genetic Predisposition to Disease/epidemiology , Genetic Variation , Genome-Wide Association Study , Genotype , Humans , Japan/epidemiology , Japan/ethnology , Lupus Erythematosus, Systemic/epidemiology , Male , Middle Aged , Prevalence , Republic of Korea/epidemiology , Republic of Korea/ethnology
17.
Chin Med J (Engl) ; 133(17): 2020-2026, 2020 Sep 05.
Article in English | MEDLINE | ID: mdl-32810047

ABSTRACT

BACKGROUND: Youzhi artificial intelligence (AI) software is the AI-assisted decision-making system for diagnosing skin tumors. The high diagnostic accuracy of Youzhi AI software was previously validated in specific datasets. The objective of this study was to compare the performance of diagnostic capacity between Youzhi AI software and dermatologists in real-world clinical settings. METHODS: A total of 106 patients who underwent skin tumor resection in the Dermatology Department of China-Japan Friendship Hospital from July 2017 to June 2019 and were confirmed as skin tumors by pathological biopsy were selected. Dermoscopy and clinical images of 106 patients were diagnosed by Youzhi AI software and dermatologists at different dermoscopy diagnostic levels. The primary outcome was to compare the diagnostic accuracy of the Youzhi AI software with that of dermatologists and that measured in the laboratory using specific data sets. The secondary results included the sensitivity, specificity, positive predictive value, negative predictive value, F-measure, and Matthews correlation coefficient of Youzhi AI software in the real-world. RESULTS: The diagnostic accuracy of Youzhi AI software in real-world clinical settings was lower than that of the laboratory data (P < 0.001). The output result of Youzhi AI software has good stability after several tests. Youzhi AI software diagnosed benign and malignant diseases by recognizing dermoscopic images and diagnosed disease types with higher diagnostic accuracy than by recognizing clinical images (P = 0.008, P = 0.016, respectively). Compared with dermatologists, Youzhi AI software was more accurate in the diagnosis of skin tumor types through the recognition of dermoscopic images (P = 0.01). By evaluating the diagnostic performance of dermatologists under different modes, the diagnostic accuracy of dermatologists in diagnosing disease types by matching dermoscopic and clinical images was significantly higher than that by identifying dermoscopic and clinical images in random sequence (P = 0.022). The diagnostic accuracy of dermatologists in the diagnosis of benign and malignant diseases by recognizing dermoscopic images was significantly higher than that by recognizing clinical images (P = 0.010). CONCLUSION: The diagnostic accuracy of Youzhi AI software for skin tumors in real-world clinical settings was not as high as that of using special data sets in the laboratory. However, there was no significant difference between the diagnostic capacity of Youzhi AI software and the average diagnostic capacity of dermatologists. It can provide assistant diagnostic decisions for dermatologists in the current state.


Subject(s)
Melanoma , Skin Neoplasms , Artificial Intelligence , China , Dermatologists , Dermoscopy , Humans , Japan , Sensitivity and Specificity , Skin Neoplasms/diagnostic imaging , Software
18.
Ann Transl Med ; 8(11): 698, 2020 Jun.
Article in English | MEDLINE | ID: mdl-32617318

ABSTRACT

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 hospitals in China are in most need of the application AI, and 91.78% of participated dermatologists thought the priority implementation of AI should be in skin tumors. CONCLUSIONS: The majority of Chinese dermatologists are interested in AI information and acquired information about AI through a variety of approaches. Nearly all dermatologists are attentive to information on AI and think the role of AI is in "assisting the daily diagnosis and treatment activities for dermatologists". Future AI implementation should be primarily focused on skin tumors and utilized in in secondary hospitals.

19.
Indian J Dermatol ; 65(1): 11-16, 2020.
Article in English | MEDLINE | ID: mdl-32029933

ABSTRACT

BACKGROUND: Subungual splinter hemorrhage (SSH) is a common nail disorder and is difficult to differentiate from other nail diseases because of their similar characteristics. The epidemiological study of SSH is lacking and it is unclear whether SSH needs treatment or not. AIMS: The aims of this study were to observe the clinical characteristics of SSH of toenails in Chinese adults and to provide a reference for the diagnosis and prognosis of patients with SSH. MATERIALS AND METHODS: We collected and followed up 63 SSH patients who were diagnosed through dermoscopic examination. The clinical and dermoscopic characteristics, disease course, and recovery results were recorded. Data sets were analyzed through the use of SPSS 16.0. Literature concerning SSH were reviewed and compared with the results in this study. RESULTS: Sixty-three SSH patients were included with an age range of 17-58 years. Nearly 93.7% of SSH patients occurred in the right, left, or right and left first toenails; 66.7% of SSH patients occurred only in one toenail; there were 60.3% of SSH patients with a clear stimulus causing it and 31.8% of SSH patients with five types of comorbidities. The common characteristics of dermoscopy showed a reddish brown or brown stain with a clear boundary visible under the nail in which the color gradually faded outward from the center, with no blue or white structure. After following up for 24 weeks, the disappearance of hemorrhage was observed in 95.2% of SSH patients. For the recovered SSH patients, data analysis showed no significant difference in the course of SSH in males and females (P = 0.645); the statistical analysis showed that there was no significant correlation (r 2 = -0.002) between age and course in recovered SSH patients (P = 0.986). CONCLUSIONS: It is unnecessary to do any special treatment during the 1st year. Measures ought to be taken for SSH patients if the course of the disease exceeds more than 1 year.

20.
Epigenomics ; 11(14): 1613-1625, 2019 11.
Article in English | MEDLINE | ID: mdl-31701765

ABSTRACT

Aim: To understand whether the anatomical location of origin plays a role in shaping the DNA methylation (DNAm) landscape of psoriatic skins. Patients & methods: A number of 108 psoriatic and 57 control skin samples were grouped based on their anatomical locations. Two group t-tests were used to identify those differentially methylated sites and regions. Target region methylation loci were validated by bisulfate conversion sequencing. The correlations of DNAm with pathological features, DNAm and gene expression were also interrogated. Results: Our analysis revealed 315 location-specific differentially methylated sites for back, 291 for the extremities and 801 for abdomen. Moreover, we observed that the extremity-specific loci cg21942490 located on HOXA9 is associated with hyperkeratosis. We further observed that HOXA5 and KIAA1949 are differential methylation regions. Conclusion: Our study shown evidence of anatomical location-dependent DNAm pattern in psoriasis skins, and thus provided new insights into the pathogenesis of this disease.


Subject(s)
DNA Methylation/genetics , Psoriasis/genetics , Skin/pathology , Epigenesis, Genetic/genetics , Epigenomics/methods , Female , Gene Expression Profiling/methods , Genes, Homeobox/genetics , Genome-Wide Association Study/methods , Homeodomain Proteins/genetics , Humans , Male , Psoriasis/pathology
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