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https://www.readbyqxmd.com/read/29336782/loss-of-gpnmb-causes-autosomal-recessive-amyloidosis-cutis-dyschromica-in-humans
#1
Chi-Fan Yang, Shuan-Pei Lin, Chien-Ping Chiang, Yu-Hung Wu, Weng Siong H'ng, Chun-Ping Chang, Yuan-Tsong Chen, Jer-Yuarn Wu
Amyloidosis cutis dyschromica (ACD) is a distinct form of primary cutaneous amyloidosis characterized by generalized hyperpigmentation mottled with small hypopigmented macules on the trunks and limbs. Affected families and sporadic case subjects have been reported predominantly in East and Southeast Asian ethnicities; however, the genetic cause has not been elucidated. We report here that the compound heterozygosity or homozygosity of GPNMB truncating alleles is the cause of autosomal-recessive ACD. Six nonsense or frameshift mutations were identified in nine individuals diagnosed with ACD...
January 9, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29331830/fetal-development-of-the-poeppig-s-woolly-monkey-lagothrix-poeppigii
#2
Rafael Dos Santos de Andrade, Frederico Ozanan Barros Monteiro, Hani Rocha El Bizri, Wilter Ricardo Russiano Vicente, Diva Anelie de Araujo Guimarães, Pedro Mayor
The intrauterine development is an evolutionary strategy that prepares the neonate for extra-uterine life, thus providing important information on the life history of species. In this study, we described the external and internal morphology of 25 fetuses of Poeppig's woolly monkeys (Lagothrix poeppigii) by taking advantage of a 10-year participatory collection of biological samples originated from animals hunted for subsistence purposes in the Peruvian Amazon. Logistic regressions estimated the probability of occurrence of each external morphological characteristic in relation to the crown-rump length (CRL)...
December 8, 2017: Theriogenology
https://www.readbyqxmd.com/read/29330174/views-and-experiences-of-seeking-information-and-help-for-vitiligo-a-qualitative-study-of-written-accounts
#3
Emma Teasdale, Ingrid Muller, Amirah Abdullah Sani, Kim S Thomas, Beth Stuart, Miriam Santer
OBJECTIVES: Vitiligo is a relatively common autoimmune condition causing loss of skin pigment. Around 1 in 100 people in the UK develop vitiligo. It can have a significant impact on quality of life for many of those affected. How people access information and help for vitiligo may influence how they manage such impact. We aimed to explore people's views and experiences of seeking health information and help for vitiligo. DESIGN: Qualitative analysis of free-text responses to four open-ended questions in an online survey...
January 11, 2018: BMJ Open
https://www.readbyqxmd.com/read/29329540/children-with-albinism-in-african-regions-their-rights-to-being-and-doing
#4
Anita Franklin, Patricia Lund, Caroline Bradbury-Jones, Julie Taylor
BACKGROUND: Albinism is an inherited condition with a relatively high prevalence in populations throughout sub-Saharan Africa. People with oculocutaneous albinism have little or no pigment in their hair, skin and eyes; thus they are visually impaired and extremely sensitive to the damaging effect of the sun on their skin. Aside from the health implications of oculocutaneous albinism, there are also significant sociocultural risks. The impacts of albinism are particularly serious in areas that associate albinism with legend and folklore, leading to stigmatisation and discrimination...
January 12, 2018: BMC International Health and Human Rights
https://www.readbyqxmd.com/read/29324475/bilateral-cochlear-implants-maximizing-expected-outcomes
#5
Kate E Willis, Nathan J Blum, Stephanie A Waryasz, Marilyn Augustyn
Sonia is a 4 1/12-year-old girl with Waardenburg syndrome and bilateral sensorineural hearing loss who had bilateral cochlear implants at 2 7/12 years of age. She is referred to Developmental-Behavioral Pediatrics by her speech/language pathologist because of concerns that her language skills are not progressing as expected after the cochlear implant. At the time of the implant, she communicated using approximately 20 signs and 1 spoken word (mama). At the time of the evaluation (18 months after the implant) she had approximately 70 spoken words (English and Spanish) and innumerable signs that she used to communicate...
January 10, 2018: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/29321357/mapping-of-id-locus-for-dermal-shank-melanin-in-a-chinese-indigenous-chicken-breed
#6
Jiguo Xu, Shudai Lin, Xinfeng Gao, Qinghua Nie, Qingbin Luo, Xiquan Zhang
The dermal shank pigmentation, one of the defining traits of chicken breeds, is caused by an abnormal deposition of melanin in the dermis of the shank. The abnormal deposition is controlled by the sex-linked inhibitor of dermal melanin (Id). In this study, we aim to locate the gene responsible for the dermal shank pigmentation in chickens by an association analysis and a differential expression analysis. Based on our results, 72 single-nucleotide polymorphisms (SNPs) located in Z chromosome (chrZ): 71-73 Mb (galGal3) were selected to further explore their relationships with the dermal shank pigmentation in pure lines of 96 Gushi hens and 96 Gushi hens with a yellow shank skin colour...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29320586/safety-and-efficacy-of-a-1550nm-1927nm-dual-wavelength-laser-for-the-treatment-of-photodamaged-skin
#7
Vic A Narurkar, Tina S Alster, Eric F Bernstein, Tina J Lin, Anya Loncaric
<p>BACKGROUND: Fractional photothermolysis (FP) is a popular treatment option for photodamaged skin and addresses shortcomings of ablative skin resurfacing and nonablative dermal remodeling. Previous studies have demonstrated that FP using the 1550nm wavelength has led to improvement of ultrastructural changes and clinical effects associated with photodamaged skin in the deeper dermal structures, while treatment with the 1927nm wavelength has shown clinical effects in the superficial dermis. Both wavelengths produce precise microscopic treatment zones (MTZs) in the skin...
January 1, 2018: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/29318463/a-novel-splice-site-mutation-of-the-prkar1a-gene-c-440-5-g-c-in-a-chinese-family-with-carney-complex
#8
J Fu, F Lai, Y Chen, X Wan, G Wei, Y Li, H Xiao, X Cao
BACKGROUND: Carney complex (CNC) is an extremely rare, multiple endocrine neoplasia syndrome that occurs in an autosomal dominant manner. Mutations in PRKAR1A have been reported to be a common genetic cause of CNC. METHODS: In this study, we reported a Chinese pedigree of CNC that manifests mainly as spotty skin pigmentation and primary pigmented nodular adrenocortical disease. Whole blood samples of this pedigree were collected for DNA/RNA analysis. Polymerase chain reaction (PCR) and reverse-transcription polymerase chain reaction analyses were performed to amplify the 11 exons and adjacent introns of PRKAR1A...
January 9, 2018: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29317889/clinical-and-laboratory-analysis-of-patients-with-leishmaniasis-a-retrospective-study-from-a-tertiary-care-center-in-new-delhi
#9
Nitin Gupta, Kamla Kant, Bijay Ranjan Mirdha
Background: Leishmaniasis manifests as visceral (VL), cutaneous (CL) or a dermal sequel of VL, known as Post kala-azar dermal leishmaniasis (PKDL). The aim of the study was to analyze the clinical and laboratory features of cases diagnosed with leishmaniasis. Methods: This hospital-based retrospective study included all cases of VL, PKDL, and CL diagnosed between Jan 2011 to Jan 2016 at All India Institute of Medical Sciences, New Delhi. Clinical and laboratory profile of the diagnosed cases were analyzed in detail...
October 2017: Iranian Journal of Parasitology
https://www.readbyqxmd.com/read/29316744/anti-pigmentation-effect-of-phellinus-linteus-fermented-eight-traditional-crude-herbalextracts-in-brown-guinea-pigsof-ultraviolet-b-uvb-induced-hyperpigmentation
#10
Hee-Young Ahn, Young-Moo Choo, Young-Su Cho
We have previously found that mycelia culture broth of eight kinds of traditional herbal extracts fermented with Phellinus linteus (previously named as 8-HsPLCB) not only inhibited melanin and tyrosinase activity, but also reduced the contents of melanogenesis-related proteins including tyrosinase and microphthalmia-associated transcription factor (MITF) in 3- isobutyl-1-methylxanthine (IBMX)-stimulated B16F0 melanoma cells. For a further study, the effect of 8-HsPLCB against skin pigmentation in brown guinea pigs of ultraviolet B (UVB)-induced hyperpigmentation was investigated...
January 11, 2018: Journal of Microbiology and Biotechnology
https://www.readbyqxmd.com/read/29316635/skin-protective-effect-of-epigallocatechin-gallate
#11
Eunji Kim, Kyeonghwan Hwang, Jongsung Lee, Sang Yun Han, Eun-Mi Kim, Junseong Park, Jae Youl Cho
Epigallocatechin gallate (EGCG) is a catechin and an abundant polyphenol in green tea. Although several papers have evaluated EGCG as a cosmetic constituent, the skin hydration effect of EGCG is poorly understood. We aimed to investigate the mechanism by which EGCG promotes skin hydration by measuring hyaluronic acid synthase (HAS) and hyaluronidase (HYAL) gene expression and antioxidant and anti-pigmentation properties using cell proliferation assay, Western blotting analysis, luciferase assay, 2,2-diphenyl-1-picrylhydrazyl (DPPH) assay, and reverse transcription polymerase chain reaction (RT-PCR) analysis...
January 6, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29316344/widespread-dynamic-and-pleiotropic-expression-of-the-melanocortin-1-receptor-mc1r-system-is-conserved-across-chick-mouse-and-human-embryonic-development
#12
Anna C Thomas, Pauline Heux, Chloe Santos, Wisenave Arulvasan, Nita Solanky, Magalie E Carey, Dianne Gerrelli, Veronica A Kinsler, Heather C Etchevers
BACKGROUND: MC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (αMSH), modulates pigment production in melanocytes from many species and is associated with human melanoma risk. MC1R mutations affecting human skin and hair color also have pleiotropic effects on the immune response and analgesia. Variants affecting human pigmentation in utero alter the congenital phenotype of both oculocutaneous albinism and congenital melanocytic naevi, and have a possible effect on birthweight...
January 8, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29315480/iris-pigmented-lesions-as-a-marker-of-cutaneous-melanoma-risk-an-australian-case-control-study
#13
A M Laino, E G Berry, K Jagirdar, K J Lee, D L Duffy, H P Soyer, R A Sturm
BACKGROUND: Iris naevi and iris freckles have a frequency of 4% and 50% in the European population. They are associated with dysplastic naevi, but few studies examine their link to cutaneous melanoma. OBJECTIVES: To assess whether iris pigmented lesions are a predictive indicator for cutaneous melanoma. METHODS: This is a melanoma case-control study of 1254 European-background Australians. Sun exposure and melanoma history, a saliva sample for DNA analysis, and eye photographs taken with a digital camera were collected from 1117 participants...
January 8, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29314288/the-limitations-of-dermoscopy-false-positive-and-false-negative-tumors
#14
REVIEW
V Papageorgiou, Z Apalla, E Sotiriou, C Papageorgiou, E Lazaridou, S Vakirlis, D Ioannides, A Lallas
Dermoscopy has been documented to increase the diagnostic accuracy of clinicians evaluating skin tumors, improving their ability to detect skin cancer and better recognize benign moles. However, dermoscopically "false positive" and "false negative" tumors do exist. False positive diagnosis usually leads to unnecessary excisions. False negative diagnosis is much more dangerous, since it might result in overlooking a cancer, with severe undesirable consequences for the patient and the physician. Therefore, management strategies should mainly focus on addressing the risk of dermoscopically false negative tumors...
January 5, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29311485/evaluation-of-antimelanogenic-activity-and-mechanism-of-galangin-in-silico-and-in-vivo
#15
Ki Wung Chung, Hyeong Oh Jeong, Eun Kyeong Lee, Su Jeong Kim, Pusoon Chun, Hae Young Chung, Hyung Ryong Moon
Abnormal pigmentation owing to excessive melanin synthesis can result in serious problems such as freckles, age-spots, and melanoma. Tyrosinase inhibitors have been an interesting target for the treatment of hyperpigmentation because tyrosinase is the rate-limiting enzyme in melanin synthesis. The screening for strong tyrosinase inhibitors led to the finding of the flavonoid galangin, which showed notable inhibitory effects on mushroom tyrosinase. The IC50 value of galangin (3.55±0.39 µM) was lower than that of kojic acid (48...
2018: Biological & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/29310423/phloxine-o-a-cosmetic-colorant-suppresses-the-expression-of-thymic-stromal-lymphopoietin-and-acute-dermatitis-symptoms-in-mice
#16
Hye Eun Lee, Gabsik Yang, Kyu-Bong Kim, Byung-Mu Lee, Joo Young Lee
Cosmetics are primarily applied to the skin; therefore, the association of cosmetic dyes with skin diseases or inflammation is a topic of great interest. Thymic stromal lymphopoietin (TSLP) is an interleukin 7-like cytokine that activates dendritic cells to promote Th2 inflammatory immune responses. TSLP is highly expressed in keratinocytes under inflammatory conditions, which suggests that it may play a critical role in the development of skin diseases, such as atopic dermatitis. Therefore, we investigated whether cosmetic dyes influenced the production of TSLP by keratinocytes...
January 9, 2018: Biomolecules & Therapeutics
https://www.readbyqxmd.com/read/29310408/case-report-repairing-orbital-skin-defects-using-composite-flaps-after-giant-eyelid-derived-tumor-excision-and-orbital-exenteration
#17
Bin Fan, Jian-Ju Liu, Bei-Fen Wang, Ying-Jian Sun, Guang-Yu Li
RATIONALE: Though giant malignant tumors arising in the eyelid are rare, they often require extensive surgery for removal along with orbital exenteration. Because of this, repairing orbital defects is an important factor in the surgical strategy. PATIENT CONCERNS: Case 1 was a 78-year-old nomad man who presented in the Department of Ophthalmology with a giant tumor in his right eyelid, which had developed over three years. Clinical examination revealed a huge pigmented, nonhealing ulcerated lesion, approximately 52×44×40 mm in size...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29305131/prevalence-and-predictors-of-low-serum-25-hydroxyvitamin-d-among-female-african-american-breast-cancer-survivors
#18
Patricia Sheean, Claudia Arroyo, Jennifer Woo, Linda Schiffer, Melinda Stolley
BACKGROUND: African-American breast cancer survivors commonly demonstrate low serum 25-hydroxyvitamin D (25(OH)D). Decreased cutaneous conversion, high levels of adiposity, and even breast cancer treatment may influence vitamin D status. Previous investigations have analyzed African-American women in aggregate with other breast cancer survivors and have not comprehensively addressed these influential factors. OBJECTIVES: To determine the prevalence of low serum 25(OH)D in an exclusively African-American cohort of female breast cancer survivors with overweight/obesity and to evaluate the role of ultraviolet (UV) light exposure, body composition, and dietary sources of vitamin D on serum 25(OH)D levels...
January 2, 2018: Journal of the Academy of Nutrition and Dietetics
https://www.readbyqxmd.com/read/29303047/eltrombopag-in-the-management-of-aplastic-anaemia-real-world-experience-in-a-non-trial-setting
#19
Yu-Yan Hwang, Harinder Gill, Thomas S Y Chan, Garret M K Leung, Carol Y M Cheung, Yok-Lam Kwong
OBJECTIVE: The thrombopoietin mimetic eltrombopag has been used in clinical trials for the frontline and salvage treatment of aplastic anaemia (AA). Eltrombopag was investigated in AA patients on a non-trial all-comer basis. METHODS: Consecutive newly diagnosed and relapsed/refractory AA patients were treated with eltrombopag. RESULTS: In a 4.5-year period, 20 consecutive AA patients (newly diagnosed, N = 10; relapsed/refractory, N = 10) at a median age of 47 (22-84) years were treated with eltrombopag...
January 5, 2018: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29302729/color-change-after-paramedical-pigmentation-of-the-nipple-areola-complex
#20
Shoichi Tomita, Katsuya Mori, Takeshi Miyawaki
BACKGROUND: Reconstruction of the nipple-areola complex is the final process in breast reconstruction. Local flaps and paramedical pigmentation is one of the major procedures for this. However, fading after paramedical pigmentation leads to a color difference between the selected pigment and its color in the skin. The aim of this study is to make a proposition in color choice of paramedical pigmentation for nipple-areola complex. METHODS: Our research focused on investigating the color changes over time after unilateral nipple-areola complex reconstruction using paramedical pigmentation in 25 patients to propose suitable color selections...
January 4, 2018: Aesthetic Plastic Surgery
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