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https://www.readbyqxmd.com/read/28024137/-secrets-of-the-red-headed
#1
REVIEW
Zygmunt Zdrojewicz, Małgorzata Kowalik, Adam Jagodziński
Only 1-2% of people is red-headed but in the Russian Udmurt Republic or United Kingdom they can be met more often. A specific variant of MC1R gene (R allele) is responsible for the red hair. The gene encodes a receptor for melanocortins. These substances stimulate melanocytes to product melanin- a dye of the skin which is transported to keratinocytes. It protects a cellular nucleus from ultraviolet radiation. Melanin has two types: eumelanin which is dark brown or even black and red/orange pheomelanin. The second one is mostly observed in red-headed which is caused by R allele...
December 22, 2016: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28009060/identifying-people-at-higher-risk-of-melanoma-across-the-u-k-a-primary-care-based-electronic-survey
#2
J A Usher-Smith, A P Kassianos, J D Emery, G A Abel, Z Teoh, S Hall, R D Neal, P Murchie, F M Walter
BACKGROUND: Melanoma incidence is rising rapidly worldwide among white populations. Defining higher-risk populations using risk prediction models may help targeted screening and early detection approaches. OBJECTIVES: To assess the feasibility of identifying people at higher risk of melanoma using the Williams self-assessed clinical risk estimation model in U.K. primary care. METHODS: We recruited participants from the waiting rooms of 22 general practices covering a total population of > 240 000 in three U...
December 23, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27982466/expansion-of-the-genotypic-and-phenotypic-spectrum-of-xeroderma-pigmentosum-in-chinese-population
#3
Jia Zhang, Ruhong Cheng, Xia Yu, Zhonghui Sun, Ming Li, Zhirong Yao
BACKGROUND: Xeroderma pigmentosum (XP) is a rare genodermatoses characterized by exaggerated sunburn reactions, freckle-like pigmentation and a high possibility of developing cutaneous tumors. XP comprised seven complementation groups (from XP-A to XP-G) and a variant form XP-V. METHODS: This study was based on five unrelated Chinese families with six patients clinically suspected to be XP. Mutation screening was performed by direct sequencing of the entire coding region of eight XP genes...
December 16, 2016: Photodermatology, Photoimmunology & Photomedicine
https://www.readbyqxmd.com/read/27856029/optical-coherence-tomography-angiography-characteristics-of-iris-melanocytic-tumors
#4
Alison H Skalet, Yan Li, Chen D Lu, Yali Jia, ByungKun Lee, Lennart Husvogt, Andreas Maier, James G Fujimoto, Charles R Thomas, David Huang
PURPOSE: To evaluate tumor vasculature with optical coherence tomography angiography (OCTA) in malignant iris melanomas and benign iris lesions. DESIGN: Cross-sectional observational clinical study. PARTICIPANTS: Patients with iris lesions and healthy volunteers. METHODS: Eyes were imaged using OCTA systems operating at 1050- and 840-nm wavelengths. Three-dimensional OCTA scans were acquired. Iris melanoma patients treated with radiation therapy were imaged again after I-125 plaque brachytherapy at 6 and 18 months...
November 14, 2016: Ophthalmology
https://www.readbyqxmd.com/read/27829416/tyrosinase-inhibition-and-antioxidant-properties-of-asphodelus-microcarpus-extracts
#5
Amalia Di Petrillo, Ana Maria González-Paramás, Benedetta Era, Rosaria Medda, Francesca Pintus, Celestino Santos-Buelga, Antonella Fais
BACKGROUND: Asphodelus microcarpus belongs to the family Liliaceae that include several medicinal plants. In the traditional medicine plants of the genus Asphodelus are used to treat skin disorders such as ectodermal parasites, psoriasis, microbial infection and for lightening freckles. In order to find novel skin depigmenting agents, the present work was carry out to evaluate antioxidant activity and tyrosinase inhibitory potential of leaves, flowers and tubers extracts of A. microcarpus...
November 9, 2016: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/27812726/avian-thermoregulation-in-the-heat-efficient-evaporative-cooling-in-two-southern-african-nightjars
#6
Ryan S O'Connor, Blair O Wolf, R Mark Brigham, Andrew E McKechnie
Nightjars represent a model taxon for investigating physiological limits of heat tolerance because of their habit of roosting and nesting in sunlit sites during the heat of the day. We investigated the physiological responses of Rufous-cheeked nightjars (Caprimulgus rufigena) and Freckled nightjars (Caprimulgus tristigma) to high air temperatures (T a) by measuring body temperature (T b), resting metabolic rate (RMR) and total evaporative water loss (TEWL) at T a ranging from 10 to 56 °C. Both species became hyperthermic at T a > T b...
November 3, 2016: Journal of Comparative Physiology. B, Biochemical, Systemic, and Environmental Physiology
https://www.readbyqxmd.com/read/27759048/molecular-etiology-and-genotype-phenotype-correlation-of-chinese-han-deaf-patients-with-type-i-and-type-ii-waardenburg-syndrome
#7
Lianhua Sun, Xiaohua Li, Jun Shi, Xiuhong Pang, Yechen Hu, Xiaowen Wang, Hao Wu, Tao Yang
Waardenburg syndrome (WS) characterized by sensorineural hearing loss and pigmentary abnormalities is genetically heterogeneous and phenotypically variable. This study investigated the molecular etiology and genotype-phenotype correlation of WS in 36 Chinese Han deaf probands and 16 additional family members that were clinically diagnosed with WS type I (WS1, n = 8) and type II (WS2, n = 42). Mutation screening of six WS-associated genes detected PAX3 mutations in 6 (86%) of the 7 WS1 probands. Among the 29 WS2 probands, 13 (45%) and 10 (34%) were identified with SOX10 and MITF mutations, respectively...
October 19, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27755135/genetic-analysis-of-melanocortin-1-receptor-red-hair-color-variants-in-a-russian-population-of-eastern-siberia
#8
Anna V Motorina, Nadezhda V Palkina, Anna V Komina, Tatiana G Ruksha, Ivan P Artyukhov, Vasily V Kozlov
The melanocortin 1 receptor is a Gs protein-coupled receptor implicated in melanogenesis regulation. The receptor gene is highly polymorphic, which accounts for the association of several of its single-nucleotide polymorphisms (SNPs) with an increased risk of melanoma. The present study aimed to evaluate the distribution of melanocortin 1 receptor gene variants R151C, R160W, and D294H within the Russian population of Eastern Siberia and its association with melanoma development. Melanoma patients (n=95) admitted to Krasnoyarsk Territorial Oncological Center and healthy controls (n=334) were enrolled in the study...
October 13, 2016: European Journal of Cancer Prevention
https://www.readbyqxmd.com/read/27699206/smooth-versus-textured-surfaces-feature-based-category-selectivity-in-human-visual-cortex
#9
Cesar Echavarria, Shahin Nasr, Roger Tootell
In fMRI studies, human lateral occipital (LO) cortex is thought to respond selectively to images of objects, compared with nonobjects. However, it remains unresolved whether all objects evoke equivalent levels of activity in LO, and, if not, which image features produce stronger activation. Here, we used an unbiased parametric texture model to predict preferred versus nonpreferred stimuli in LO. Observation and psychophysical results showed that predicted preferred stimuli (both objects and nonobjects) had smooth (rather than textured) surfaces...
September 2016: ENeuro
https://www.readbyqxmd.com/read/27696509/inhibitory-effect-of-660-nm-led-on-melanin-synthesis-in-in-vitro-and-in-vivo
#10
Chang Taek Oh, Tae-Rin Kwon, Eun Ja Choi, Soon Re Kim, Joon Seok, Seog Kyun Mun, Kwang Ho Yoo, Yeon Shik Choi, Sun Young Choi, Beom Joon Kim
BACKGROUND: Skin hyperpigmentary disorders including postinflammatory hyperpigmentation, melasma, solar lentigines, and conditions like freckles are common. The light-emitting diodes (LEDs) are the latest category of nonthermal and noninvasive phototherapy to be considered in skin pigmentation disorder treatment. PURPOSE: The purpose of this study was to investigate the effects of 660-nm LED on inhibition of melanogenesis. We investigated whether a 660-nm LED affected melanin synthesis in in vitro and in vivo models, and we explored the mechanisms involved...
October 1, 2016: Photodermatology, Photoimmunology & Photomedicine
https://www.readbyqxmd.com/read/27693716/downregulation-of-melanogenesis-drug-discovery-and-therapeutic-options
#11
REVIEW
Thanigaimalai Pillaiyar, Manoj Manickam, Sang-Hun Jung
Melanin, primarily responsible in humans for hair, eye and skin pigmentation, is produced by melanocytes through a process called melanogenesis. However, the abnormal accumulation of melanin causes dermatological problems such as café-au-lait macules ephelides (freckles), solar lentigo (age spots) and melasma, as well as cancer and vitiligo. Hence the regulation of melanogenesis is very important for treating hyperpigmentary disorders. Numerous antimelanogenic agents that target tyrosinase activity and/or stability, melanosome maturation, transfer and trafficking, or melanogenesis-related signaling pathways have been developed...
September 28, 2016: Drug Discovery Today
https://www.readbyqxmd.com/read/27689982/constituents-of-cryptotaenia-japonica-inhibit-melanogenesis-via-creb-and-mapk-associated-signaling-pathways-in-murine-b16-melanoma-cells
#12
Zuh-Kyung Seong, Sung-Yoon Lee, Amrit Poudel, Sei-Ryang Oh, Hyeong-Kyu Lee
Melanin plays an important role in protecting the skin against ultraviolet light and is responsible for skin color. However, overproduction of melanin is related to several skin disorders, such as age spots, freckles, café au lait spots, Becker's nevus and other hyperpigmentation syndromes. The aim of this study was to identify the effects of kaempferol-7-O-β-d-glucuronide (K7G) and tilianin, isolated from Cryptotaenia japonica, on melanogenesis and their mechanisms of action in murine B16 melanoma cells...
2016: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/27663092/non-genetic-risk-factors-for-cutaneous-melanoma-and-keratinocyte-skin-cancers-an-umbrella-review-of-meta-analyses
#13
Lazaros Belbasis, Irene Stefanaki, Alexander J Stratigos, Evangelos Evangelou
BACKGROUND: Skin cancers have a complex disease mechanism, involving both genetic and non-genetic risk factors. Numerous meta-analyses have been published claiming statistically significant associations between non-genetic risk factors and skin cancers without applying a thorough methodological assessment. OBJECTIVE: The present study maps the literature on the non-genetic risk factors of skin cancers, assesses the presence of statistical biases and identifies the associations with robust evidence...
December 2016: Journal of Dermatological Science
https://www.readbyqxmd.com/read/27637020/choroidal-freckling-in-pediatric-patients-affected-by-neurofibromatosis-type-1
#14
Aldo Vagge, Leonard B Nelson, Paolo Capris, Carlo Enrico Traverso
Greater understanding of choroidal freckling in patients affected by neurofibromatosis type 1 (NF1) has changed the previous belief that choroidal lesions are unusual in eyes with this disease. In fact, the high frequency of freckling suggests that the choroid is a structure commonly affected in patients with NF1. A review of patients aged 16 years or younger was performed. Recent studies using near-infrared reflectance imaging have shown that choroidal freckling frequently occurred in pediatric patients. As a result of these findings, some authors have suggested that choroidal freckling should be considered as a new diagnostic criterion for NF1...
September 1, 2016: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27607234/clinical-and-molecular-epidemiological-study-of-xeroderma-pigmentosum-in-china-a-case-series-of-19-patients
#15
Eray Yihui Zhou, Huijun Wang, Zhimiao Lin, Guiwen Xu, Zhihong Ma, Jiahui Zhao, Cheng Feng, Lina Duo, Jinghua Yin, Yong Yang
Xeroderma pigmentosum (XP) is a rare genetic disorder which is divided into eight complementation groups: XP-A to XP-G and XP-V. Some XP patients demonstrate severe cutaneous and neurological manifestations, management of which requires timely diagnosis and intervention. We performed clinical evaluation and genetic analysis on 19 patients, the largest cohort of XP to date in China. Twenty-three mutations from six groups were identified, 16 of which were novel. All patients developed marked freckle-like pigmentation on sun-exposed sites while patients with XP-A, XP-D, XP-F and XP-G showed acute sunburn reactions...
September 8, 2016: Journal of Dermatology
https://www.readbyqxmd.com/read/27606435/the-increasing-incidence-of-melanoma-it-may-be-more-than-a-freckle
#16
Jeffrey S Moyer
No abstract text is available yet for this article.
January 1, 2017: JAMA Facial Plastic Surgery
https://www.readbyqxmd.com/read/27597922/coexistence-of-ankylosing-spondylitis-and-neurofibromatosis-type-1
#17
Baris Gundogdu, Servet Yolbas, Ahmet Yildirim, Murat Gonen, Suleyman Serdar Koca
Ankylosing spondylitis (AS) is a systemic disease primarily characterized by the inflammation of sacroiliac joints and axial skeleton. Neurofibromatosis type 1 (NF1) is a multisystem genetic disease which is characterized by cutaneous findings, most importantly café-au-lait spots and axillary freckling, by skeletal dysplasia, and by the growth of both benign and malignant nervous system neoplasms, most notably benign neurofibromas. In this case report, we present a 43-year-old male with AS and NF1.
2016: Case Reports in Rheumatology
https://www.readbyqxmd.com/read/27516655/anti-freckles-herbal-treatment-in-iranian-traditional-medicine
#18
Sara Zakerin, Shirin Fahimi, Maedeh Rezghi
BACKGROUND: Freckles are numerous pigmented spots of the skin, mainly confined to the face, even arms and back. Although freckles are light-brown macules, most frequently observed in individuals with red or blond hair, they are common to Asian people too. Freckles increase in number, size, and depth of pigmentation during the summer months. Histologically, freckles show increased production of melanin pigment by a normal number of melanocytes. Freckles commonly stop spreading before adolescence and last for life, but could sometimes be subtle in adulthood...
May 2016: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/27486750/risk-factors-and-relationship-of-cutaneous-and-uveal-melanocytic-lesions-in-monozygotic-and-dizygotic-twin-pairs
#19
Renáta Zsanett Csoma, Edit Tóth-Molnár, Anita Varga, Hajnalka Szabó, Hajnalka Orvos, Lajos Kemény, Judit Oláh
BACKGROUND: The similar genetic background of a pair of twins, and the similar environmental impacts to which they are exposed allow an exact and objective investigation of various constitutional and environmental factors in naevus development. As far as we are aware, this is the first published survey that simultaneously examines cutaneous and ocular pigmented lesions in an appreciable sample of identical and non-identical twins. METHODS: 172 pairs of twins of Caucasian origin were included in this study...
2016: PloS One
https://www.readbyqxmd.com/read/27484170/identification-of-a-ptpn11-hot-spot-mutation-in-a-child-with-atypical-leopard-syndrome
#20
Jia Zhang, Jinwen Shen, Ruhong Cheng, Cheng Ni, Jianying Liang, Ming Li, Zhirong Yao
LEOPARD syndrome (LS) is an autosomal dominant inherited disorder primarily caused by mutations in the PTPN11, RAF1 and BRAF genes. Characteristic features include lentigines, craniofacial dysmorphism, myocardium or valve abnormalities, eletrocardiographic conduction defects and deafness. LS, neurofibromatosis type 1, Noonan syndrome and Legius syndrome are a group of highly overlapped disorders termed 'RASopathies'. Therefore, clinical discrimination between these syndromes represents a huge challenge. The present study reports a young child diagnosed with LS via identification of a common p...
September 2016: Molecular Medicine Reports
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