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https://www.readbyqxmd.com/read/27856029/optical-coherence-tomography-angiography-characteristics-of-iris-melanocytic-tumors
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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...
September 13, 2016: Journal of Dermatological Science
https://www.readbyqxmd.com/read/27637020/choroidal-freckling-in-pediatric-patients-affected-by-neurofibromatosis-type-1
#11
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
#12
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
#13
Jeffrey S Moyer
No abstract text is available yet for this article.
September 8, 2016: JAMA Facial Plastic Surgery
https://www.readbyqxmd.com/read/27597922/coexistence-of-ankylosing-spondylitis-and-neurofibromatosis-type-1
#14
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
#15
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
#16
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
#17
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
https://www.readbyqxmd.com/read/27471818/is-it-confirmed-the-presence-of-neurological-soft-signs-in-children-with-neurofibromatosis-type-1
#18
Cinzia Galasso, Livia Casarelli, Nadia El Malhany, Maria B Pitzianti, Simonetta Spiridigliozzi, Paolo Curatolo, Augusto Pasini
BACKGROUND: Neurofibromatosis type 1 is a common neurogenetic disorder affecting nervous system, caused by germiline mutations of the NF1 gene. Although the clinical diagnosis of NF1 is defined by presence of cafe-au-laits spots, freckling and benign tumours (neurofibromatosis), neurocognitive impairment and neuropsychiatric disorders are reported in comorbidity. Children with NF1 show higher incidence of executive deficits, such attention, response inhibition, executive planning and problem solving, working memory, and learning impairment...
July 8, 2016: Minerva Pediatrica
https://www.readbyqxmd.com/read/27439996/partial-unilateral-lentiginosis-is-mosaic-neurofibromatosis-type-1-or-not
#19
Şirin Yaşar, Ayşegül Ersanli, Fatih Göktay, Sema Aytekin, Dua Cebeci, Pembegül Güneş
Partial unilateral lentiginosis (PUL) is a rare pigmentation disorder characterized by numerous lentigines with sharp margins in the midline in one or more dermatomes. Its segmental pattern suggests that this presentation accompanied by café-au-lait spots, Lisch nodule or neurofibromas has a close relationship with mosaic neurofibromatosis type 1 or segmental neurofibromatosis (NF) in particular. In a group of 16 patients with PUL, who presented at the dermatology outpatient clinic between 1998 and 2015, an examination was made of consanguineous marriage in the family history, the presence of a similar lesion or NF in first-degree relatives, neurofibroma in the physical examination, the involvement pattern, axillary/inguinal freckling and the presence and number of café-au-lait spots...
July 21, 2016: Journal of Dermatology
https://www.readbyqxmd.com/read/27418183/25-hydroxyvitamin-d-in-patients-with-melanoma-and-factors-associated-with-inadequate-levels
#20
S Hernández-Ostiz, M D Pérez-Ramada, B Ortiz, C Requena, G Ribas, E Aznar, E Nagore
INTRODUCTION AND OBJECTIVES: Patients with melanoma appear to take extreme sun-protection measures, which could influence 25-hydroxyvitamin D [25(OH)D] levels. The aim of this study was to measure 25(OH)D levels in patients with cutaneous melanoma and identify factors associated with inadequate levels. MATERIAL AND METHODS: Over a period of 1 year, we prospectively measured serum 25(OH)D in patients with cutaneous melanoma and used logistic regression analysis to identify environmental, phenotypic, and genotypic factors that were associated with insufficient and deficient levels...
July 11, 2016: Actas Dermo-sifiliográficas
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