1.Analysis of 14 cases of melanosis caused by 1, 8-dinitronaphthalene and 1, 8-diaminonaphthalene.
Ye Ting MAO ; Chun Hua LU ; Ping ZHOU ; Shi Wei YIN ; Hai Ping GAO
Chinese Journal of Industrial Hygiene and Occupational Diseases 2023;41(4):299-301
14 workers in the 1, 8-diaminonaphthalene workshop of a chemical company in Nantong City had symptoms or signs of varying degrees of pruritus and pigmentation of the face, neck and waist. Pathological examination of skin biopsies showed hyperkeratosis, the basal cells were liquefied and denatured. Seven workers were eventually diagnosed with occupational melanosis. To explore the causes of occupational melanosis caused by exposure to 1, 8-dinitronaphthalene and 1, 8-diaminonaphthalene, and to provide reference for the prevention and treatment of occupational melanosis in the future, this paper reported 14 cases of melanosis in the skin of workers in chemical industry.
Humans
;
Melanosis/pathology*
;
Pigmentation
;
Skin/pathology*
2.Analysis of a Chinese pedigree affected with dyschromatosis symmetrica hereditaria due to a novel variant of ADAR gene.
Ke YANG ; Qiaofang HOU ; Yuwei ZHANG ; Guiyu LOU ; Na QI ; Bing KANG ; Bing ZHANG ; Shixiu LIAO
Chinese Journal of Medical Genetics 2022;39(1):64-67
OBJECTIVE:
To explore the genetic basis for a Chinese pedigree affected with dyschromatosis symmetrica hereditaria (DSH).
METHODS:
PCR and Sanger sequencing were carried out for the proband, and suspected variant was validated by Sanger sequencing in the pedigree.
RESULTS:
The proband was found to harbor a novel variant of c.1352delA (p.N451Mfs*13) of the ADAR (NM_001111) gene. The same variant was found in her affected mother and sister, but not in her unaffected father, uncle, and 100 healthy individual.
CONCLUSION
The novel variant of the ADAR gene probably underlay the pathogenesis of DSH in this pedigree.
Adenosine Deaminase/genetics*
;
China
;
Female
;
Humans
;
Mutation
;
Pedigree
;
Pigmentation Disorders/congenital*
;
RNA-Binding Proteins/genetics*
3.Analysis of ADAR gene variant in a Chinese pedigree affected with dyschromatosis symmetrica hereditaria.
Changyin WANG ; Siman XIA ; Zhengjun CUI ; Xinjian LIU ; Kun QIAN ; Qian LI ; Xin ZONG
Chinese Journal of Medical Genetics 2022;39(2):202-204
OBJECTIVE:
To analyze the clinical features and genetic basis for a Chinese pedigree affected with hereditary dyschromatosis symmetrica hereditaria (DSH).
METHODS:
Peripheral blood samples of the proband and his mother were collected and subjected to PCR and Sanger sequencing.
RESULTS:
The patient has conformed to the typical pattern of DSH and manifested with hyperpigmentation, hypo- and hyperpigmentation spots on the back of hands, feet and face. Sanger sequencing confirmed that the proband and his mother have both harbored heterozygous splicing variant c.2762+1G>T in exon 9 of the ADAR gene, which was unreported previously. The same variant was not detected among 100 healthy controls. According to the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PM2+PP4).
CONCLUSION
The c.2762+1G>T variant of the ADAR gene probably underlay the DSH in this pedigree. Above finding has enriched the spectrum of ADAR gene mutations.
Adenosine Deaminase/genetics*
;
China
;
Humans
;
Mutation
;
Pedigree
;
Pigmentation Disorders/congenital*
;
RNA-Binding Proteins/genetics*
5.The feasibility study of objective evaluation of the severity of motion sickness by quantitative analysis of the facial skin color.
Cong Cong LI ; Min ZHANG ; Yu Hui LIU ; Zhuo Ru ZHANG ; Dong WANG ; Li Gui HUANG ; Han WANG ; Xiao Cheng WANG
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2022;57(8):943-947
Objective: To explore the feasibility of applying quantitative analysis of the facial skin color to evaluate the severity of motion sickness objectively and to seek objective indicators that can reflect the severity of motion sickness. Methods: Motion sickness was induced in 51 male adult subjects recruited at the Air Force Medical University by Coriolis acceleration stimulation, and facial skin colorimetric values were acquired using a portable spectrophotometer at five time points: before stimulation and at 0 min, 10 min, 20 min and 30 min after the end of stimulation. The Graybiel rating scales were applied to assess the severity of motion sickness in subjects at each time point after stimulation, and the correlation between the magnitude of change in each colorimetric value and the maximum Graybiel's score was analyzed. The ROC curves were used to compare the evaluation performance of colorimetric value indicators which could reflect the severity of motion sickness. Results: Each colorimetric value in the CIE-L*a*b* color system changed significantly after exposure to provocative motion stimuli, and the trend was consistent with the typical sign of pallor in motion sickness. The magnitudes of the increase in the colorimetric value CIE-L*, the decrease in CIE-a*, and the increase in CIE-b* were all significantly and positively correlated with the maximum of Graybiel's scores (r=0.490 0, P=0.000 3; r=0.549 3, P<0.000 1; r=0.540 9, P<0.000 1). Comparing the performance of three colorimetric indicators to assess the severity of motion sickness, CIE-a* had an area under the ROC curve of 0.875 0, a sensitivity of 85.71%, and a specificity of 87.50%, which was better than CIE-L* and CIE-b*. Conclusions: The CIE-L*a*b* colorimeter values can be considered as objective indicators of the severity of motion sickness, among which the colorimetric indicator CIE-a* has the most diagnostic significance, and the method of quantitative analysis of the facial skin color can provide a new reference for the objective evaluation of the severity of motion sickness.
Adult
;
Face
;
Feasibility Studies
;
Humans
;
Male
;
Motion Sickness
;
Skin Pigmentation
6.Advances in the biosynthesis and application of bixin.
Qian LOU ; Xiangdong PU ; Jingyuan SONG
Chinese Journal of Biotechnology 2021;37(6):1986-1997
Since synthetic pigments are potentially harmful to human health, natural ones such as bixin, one of the carotenoids, are favored. As the second widely used natural pigment in the world, there is significant interest in the biosynthetic pathway of bixin which has not been fully elucidated. This review summarizes the chemical properties, extraction methods, biosynthetic pathway and application of bixin. In addition, we compared the difference between traditional extraction methods and new extraction techniques. Moreover, we described the genes involved in the biosynthetic pathway of bixin and the effects of abiotic stress on the biosynthesis of bixin, and discussed the application of bixin in food, pharmaceutical and chemical industries. However, the researches on bixin biosynthesis pathway are mostly carried out at the transcriptome level and most of the gene functions have not been elucidated. Therefore, we propose to characterize the entire bixin biosynthetic pathway using techniques of genomics, bioinformatics, and phytochemistry. This will help facilitate the synthetic biology research of bixin and development of bixin into new drugs.
Bixaceae/genetics*
;
Carotenoids
;
Humans
;
Pigmentation
;
Transcriptome
7.Updated Molecular Regulation of Hair Growth and Pigmentation by Dermal Papilla Cells.
Acta Academiae Medicinae Sinicae 2021;43(4):607-611
There is growing evidence that dermal papilla cells(DPCs)act as the organizing center to induce the cyclic hair regeneration.On one hand,DPCs secrete cytokines or growth factors to regulate the differentiation,proliferation,and migration of epithelial stem cells(EpSCs)and melanocyte stem cells(MeSCs)residing in the bulge region.On the other hand,DPCs manipulate the microenvironment(also termed as niche)for both EpSCs and MeSCs,such as the size of dermal papilla,the distance between dermal papilla and the bulge region,and the lymphatic drainage and sympathetic nerve innervation surrounding the bulge region,thereby orchestrating the cycling hair growth.Recent studies have demonstrated at least four subpopulations existing in dermal papillae,which induce the unilineage transit-amplifying epithelial cells to form the concentric multilayers of hair shafts and sheaths.In addition,emerging study has indicated that sustained psychological stress potentially leads to hyperactivation of the sympathetic nerves that innervate the bulge region.The large amount of norepinephrine released by the nerve endings forces MeSCs to rapidly and abnormally proliferate,resultantly causing the depletion of MeSC pool and the loss of hair pigment.Understanding the molecular regulation of hair growth and pigmentation by DPCs holds substantial promise for the future use of cultured DPCs
Cell Differentiation
;
Cells, Cultured
;
Dermis
;
Hair Follicle
;
Pigmentation
8.Biological and socioeconomic factors as moderator in relationship between leisure-time physical activity and cardiometabolic risk in adolescents from southern Brazil.
Ana Paula SEHN ; Debora TORNQUIST ; Luciana TORNQUIST ; Javier BRAZO-SAYAVERA ; Cézane Priscila REUTER
Environmental Health and Preventive Medicine 2021;26(1):90-90
BACKGROUND:
Given the important repercussions that sociodemographic factors can have on physical activity, especially in the field of leisure, and cardiometabolic risk, it seems relevant to analyze the implications of these variables on the relationship between physical activity in leisure time (LTPA) and cardiometabolic risk. In this sense, the present study aims to verify the moderating role of biologic and socioeconomic factors in the relationship between LTPA and cardiometabolic risk in adolescents in southern Brazil.
METHODS:
Cross-sectional study that included 1596 adolescents selected at random (58.2% girls), aged between 10 and 17 years. LTPA, biological and socioeconomic factors were assessed using a self-reported questionnaire and the cardiometabolic risk score (total cholesterol/HDL-c ratio, triglycerides, fasting glucose, systolic blood pressure, and waist circumference, considering the participant's age and sex) was included as an outcome. Associations and moderations were tested by multiple linear regression models.
RESULTS:
It was observed a positive interaction of LTPA and sex (p = 0.048) and LTPA and school system (p = 0.037), and negative interaction of LTPA and skin color (p = 0.040), indicating that these factors were moderators in the relationship between LTPA and clustered cardiometabolic risk score (cMetS) in adolescents. A reduction in cardiometabolic risk was observed according to the increase in weekly minutes of LTPA among boys, non-white adolescents, and students from municipal schools.
CONCLUSIONS
The association between LTPA and cardiometabolic risk was moderated by sex, skin color, and school system in adolescents from southern Brazil.
Adolescent
;
Age Factors
;
Brazil/epidemiology*
;
Cardiometabolic Risk Factors
;
Child
;
Cross-Sectional Studies
;
Effect Modifier, Epidemiologic
;
Exercise
;
Female
;
Humans
;
Leisure Activities
;
Male
;
Sex Factors
;
Skin Pigmentation
;
Socioeconomic Factors
9.Analysis of ADAR1 gene variants in two pedigrees affected with dyschromatosis symmetrica hereditaria.
Qian MA ; Jinlin WU ; Xiangdong KONG
Chinese Journal of Medical Genetics 2020;37(11):1233-1235
OBJECTIVE:
To detect variants of ADAR1 gene in two Chinese pedigrees affected with dyschromatosis symmetrica hereditaria (DSH).
METHODS:
Clinical data and peripheral blood samples of the pedigrees were collected. All exons of the ADAR1 gene were amplified by PCR and subjected to Sanger sequencing. Suspected pathogenic variants were validated among other members of the pedigrees and 100 unrelated healthy controls.
RESULTS:
For pedigree 1, Sanger sequencing has identified a heterozygous missense variant c.3002G>C (p.Asp968His) in exon 11 of the ADAR1 gene in the proband and his father. For pedigree 2, a novel nonsense variant c.3145C>T (p.Gln1049Ter) was identified in exon 12 of the ADAR1 gene in the proband and his son, which were previously unreported and absent among the healthy controls.
CONCLUSION
The c.3002G>C (p.Asp968His) and c.3145C>T (p.Gln1049Ter)variants of the ADAR1 gene probably underlay the DSH in the two pedigrees.
Adenosine Deaminase/genetics*
;
Humans
;
Mutation
;
Pedigree
;
Pigmentation Disorders/genetics*
;
RNA-Binding Proteins/genetics*
10.Widespread lichen planus pigmentosus in a 32-year-old Filipino male treated with low dose isotretinoin and topical tacrolimus
Nel Muriel B. Lee ; Heirich Fevrier P. Manalili ; Johannes F. Dayrit
Journal of the Philippine Dermatological Society 2020;29(1):122-124
INTRODUCTION: Lichen Planus Pigmentosus (LPP) is a pigmentary disorder of unknown etiology, presenting with
CASE REPORT: We report a case of a 32-year-old healthy male with widespread lichen planus pigmentosus, treated with clobetasol dipropionate 0.05% ointment, tacrolimus 0.1% ointment, and lowdose isotretinoin (0.1 to 0.2 mkd) showing a decrease in the progression and hyperpigmentation of patches and plaques after six months.
CONCLUSION: Based on our case and recent studies, low-dose oral isotretinoin, in combination with topical tacrolimus and topical corticosteroids, may show promising outcomes in treating cases of widespread lichen planus pigmentosus.
Isotretinoin
;
Dermoscopy
;
Pigmentation


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