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Objective:To investigate mutations in the KRT5 gene in a pedigree with Dowling-Degos disease.Methods:Clinical data were collected from the proband, and a survey was conducted in 12 members in 3 generations of the family. Peripheral blood samples were obtained from the proband, 8 family members and 50 unrelated healthy individuals, genomic DNA was extracted for whole-exome sequencing, and sequencing results were compared with the published sequences of human KRT5, POFUT1 and POGLUT1 genes.Results:There were 3 patients in this family, including the proband, his father and deceased grandmother. The proband and his father clinically presented with reticular pigmentation in the skinfolds, especially the chest and abdomen skinfolds. A novel heterozygous nonsense mutation c.165T>A was identified in exon 1 of the KRT5 gene in the proband and his father, but not in other family members or healthy controls. No abnormality was found in the POFUT1 or POGLUT1 gene in any subjects.Conclusion:A novel heterozygous nonsense mutation c.165T>A was identified in the KRT5 gene, and may contribute to the clinical phenotype of the proband and his father with Dowling-Degos disease.
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Alopecia areata is a kind of non-scarring hair loss that often occurs in young adults. Alopecia areata often occurs in hairy parts of the body, with normal local skin and no self-conscious symptoms, and is a kind of temporary hair loss. The onset of alopecia areata is usually sudden and unconscious. Therefore, it is also called "ghost shaved head" in Chinese folks. Most ordinary alopecia areata patients can self-heal, but in a few cases alopecia areata will recur and it is difficult to treat. As for the causes of alopecia areata, genetic factors, mental and neurological factors, trace elements, autoimmune factors, etc. can all cause alopecia areata. Alopecia areata looks like a local lesion of the hair, but actually it involves the nervous system, immune system, circulatory system, etc. The etiology of alopecia areata is quite complicated. The possible specific mechanism of alopecia areata is as follows: the hair follicle tissue has ischemia, hypoxia, or immune damage, and then the hair root loses its physiological growth function, and finally the hair falls off. This review paper aims to classify and explain the pathogenesis of alopecia areata in detail, and provide sufficient theoretical basis for clinical treatment of alopecia areata.
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Objective:To investigate differences in gut microbiota between patients with chronic spontaneous urticaria (CSU) and healthy controls.Methods:A total of 18 patients with CSU (CSU group) and 18 age- and gender-matched healthy controls (HC group) were enrolled from Department of Dermatology, Tianjin First Central Hospital between January 2019 and December 2019. Fecal samples were collected from these subjects, and total DNA was extracted. The 16S rRNA sequencing technology was used to identify microbial species in gut microbiota, and bioinformatics methods were applied to analyze differences in gut microbiota composition between the 2 groups. The SPSS 23.0 software was used for statistical analysis of the experimental data.Results:In terms of α diversity, there was no significant difference in the Observed OTU index, Chao1 index, Shannon index or Simpson index between the CSU group (161.28 ± 35.47, 161.31 ± 35.51, 5.15 ± 0.47, 0.94 ± 0.03, respectively) and HC group (154.89 ± 54.46, 154.92 ± 54.43, 4.92 ± 0.88, 0.91 ± 0.08, respectively; t = 0.417, 0.417, 0.952, 1.116, respectively, all P > 0.05) . In terms of β diversity, principal component analysis showed that the first and second principal components explained 6.66% and 4.93% respectively, and there was no significant difference in the microbiota structure between the 2 groups ( P = 0.672) . The relative abundance of the genus Holdemania in the gut microbiota significantly differed between the CSU group and HC group (0.04% vs. 0.01%, P = 0.025) . Conclusion:The gut microbiota differs between the patients with CSU and healthy controls.
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Objective@#To evaluate the effect of water-soluble components of atmospheric fine particulate matter PM2.5 on proliferation, migration, tyrosinase activity and melanin content of a human melanocyte line PIG1.@*Methods@#PM2.5 was collected during haze weather in heating seasons, and processed into suspensions. PIG1 melanocytes were cultured and divided into 5 experimental groups and 1 control group. PIG1 melanocytes in the 5 experimental groups were treated with 10, 20, 50, 100 and 200 mg/L PM2.5 suspensions respectively for 48 hours, while cells in the control group were not treated with PM2.5 suspensions. In cell migration assay, there was only 1 experimental group treated with 10 mg/L PM2.5 suspensions. After treatment, methyl thiazol tetrazolium (MTT) assay, micropore filtration assay, DOPA oxidase assay and NaOH lysis method were performed to determine the cell proliferation rate, migration rate, tyrosinase activity and melanin content respectively. Statistical analysis was carried out by using t test for comparison of means of two samples, one-way analysis of variance for means of multiple samples, Student-Newman-Keuls (SNK) -q test for multiple comparisons, and linear correlation analysis for analysis of correlations.@*Results@#Compared with the control group ([100 ± 1.41]%) , the proliferation rate of PIG1 cells significantly decreased in the 20-, 50-, 100- and 200-mg/L PM2.5 groups ([93.41 ± 2.13]%, [88.31 ± 1.3557]%, [79.75 ± 1.89]%, [69.83 ± 2.50]% respectively, all P < 0.05) . Linear correlation analysis showed that the proliferation rate and tyrosinase activity of PIG1 cells decreased with the increase in PM2.5 concentrations (r = -0.98, -0.93, respectively, both P < 0.01) . After the treatment with 10 mg/L PM2.5, the migration rate of PIG1 cells significantly decreased (66.23% ± 1.11%) compared with the control group ([76.86 ± 1.81]%, t = 7.55, P < 0.01) . With the increase in PM2.5 concentrations (50-200 mg/L) , the melanin content of PIG1 cells gradually decreased (r = -0.97, P < 0.01) .@*Conclusion@#Atmospheric fine particulate matter PM2.5 can affect the normal functions of melanocytes by inhibiting their proliferation and migration, and reducing their tyrosinase activity and melanin content.
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Objective To evaluate the effect of water-soluble components of atmospheric fine particulate matter PM2.5 on proliferation,migration,tyrosinase activity and melanin content of a human melanocyte line PIG1.Methods PM2.5 was collected during haze weather in heating seasons,and processed into suspensions.PIG1 melanocytes were cultured and divided into 5 experimental groups and 1 control group.PIG1 melanocytes in the 5 experimental groups were treated with 10,20,50,100 and 200 mg/L PM2.5 suspensions respectively for 48 hours,while cells in the control group were not treated with PM2.5 suspensions.In cell migration assay,there was only 1 experimental group treated with 10 mg/L PM2.5 suspensions.After treatment,methyl thiazol tetrazolium (MTT) assay,micropore filtration assay,DOPA oxidase assay and NaOH lysis method were performed to determine the cell proliferation rate,migration rate,tyrosinase activity and melanin content respectively.Statistical analysis was carried out by using t test for comparison of means of two samples,one-way analysis of variance for means of multiple samples,Student-Newman-Keuls (SNK)-q test for multiple comparisons,and linear correlation analysis for analysis of correlations.Results Compared with the control group ([100 ± 1.41] ％),the proliferation rate of PIG1 cells significantly decreased in the 20-,50-,100-and 200-mg/L PM2.5 groups ([93.41 ± 2.13]％,[88.31 ± 1.3557]％,[79.75 ± 1.89]％,[69.83 ± 2.50]％ respectively,all P ＜ 0.05).Linear correlation analysis showed that the proliferation rate and tyrosinase activity of PIG 1 cells decreased with the increase in PM2.5 concentrations (r =-0.98,-0.93,respectively,both P ＜ 0.01).After the treatment with 10 mg/L PM2.5,the migration rate of PIG1 cells significantly decreased (66.23％ ± 1.11％) compared with the control group ([76.86 ± 1.81]％,t =7.55,P ＜ 0.01).With the increase in PM2.5 concentrations (50-200 mg/L),the melanin content of PIG1 cells gradually decreased (r =-0.97,P ＜ 0.01).Conclusion Atmospheric fine particulate matter PM2.5 can affect the normal functions of melanocytes by inhibiting their proliferation and migration,and reducing their tyrosinase activity and melanin content.
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Tumor suppressor gene O⁶-methylguanine-DNA methyltransferase (MGMT) promoter methylation has been reported in melanoma. However, the clinical and prognostic significance of MGMT promoter methylation in patients with melanoma remained to be determined. A systematic search was performed to identify eligible papers published. The overall odds ratios (ORs) or hazard ratios and their 95% confidence intervals were calculated. Final 12 eligible publications involving Caucasian population were performed in this study, including 1,071 metastatic melanoma patients, 154 primary melanoma patients, and 211 normal controls. MGMT promoter methylation was significantly higher in primary or metastatic melanoma than in normal controls (p < 0.05). No difference of MGMT promoter methylation was found in primary and metastatic melanoma (p=0.432). When metastatic melanoma was compared to normal controls, subgroup analysis showed the correlation between MGMT promoter methylation and different sample materials (tissue: OR=7.01, p < 0.001 and blood: OR=12.04, p=0.005). MGMT promoter methylation was not associated with response to drug therapy and the prognosis in overall survival and progression-free survival for multivariate analysis. Our results show that MGMT promoter methylation may be correlated with the increased risk of primary or metastatic melanoma. Based on blood samples, MGMT promoter methylation may become a noninvasive biomarker for the detection of metastatic melanoma. Further additional clinical studies are necessary.
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Humans , Disease-Free Survival , Drug Therapy , Genes, Tumor Suppressor , Melanoma , Methylation , Multivariate Analysis , Odds Ratio , PrognosisABSTRACT
Objective To explore the correlation of total IgE and childhood atopic dermatitis (AD) in maternal serum and newborn cord blood, as well as its clinical significance of allergen testing. Methods Thirty-five cases diagnosed as AD (AD group) were selected, and other 35 children who were not diagnosed as AD (control group) were randomly selected from a birth cohort established in 2009—2011. The total IgE levels were detected by ELISA in maternal serum and newborn cord blood. The serum specific IgE antibody level was detected by quantitative immunoblotting method. Results The serum total IgE level was significantly higher in mother and newborn cord blood in AD group than that in control group (χ2=16.568 and 14.933, P<0.01). Compared to control group, there was a significantly higher positive rate of mother serum allergen includ?ing dust mites, house dust, ragweed pollen, song kind of pollen, poplar, surname and elm pollen, mould, shrimp, marine fish, in AD group (P<0.05). There was a significantly higher positive rate of artemisia pollen and fungi IgE in newborn cord blood in AD group (P<0.05). Conclusion The increased total IgE in maternal serum may play a predictive effect on infants suf?fering from AD. There is no obvious consistency in allergic state between mothers and infants.