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Nicholas Q-X Wee, Scott C Cutmore, Thomas H Cribb
Two monorchiid species are reported from the freckled goatfish, Upeneus tragula Richardson, from Moreton Bay, Queensland, Australia. Specimens of a species new to science were most morphologically similar to species of the genus Timonia Bartoli & Prevot, 1966, but significant differences in the arrangement of the testes (symmetrical vs oblique) and morphology of the terminal organ (bipartite vs unipartite) necessitate the proposal of a new genus; Madhavia n. g. is proposed for M. fellaminutus n. sp. Specimens of the second species are identified as Parachrisomon delicatus (Manter & Pritchard, 1964) Madhavi, 2008, extending its known range from Hawaii to Australia...
March 19, 2018: Systematic Parasitology
Cheong-Yong Yun, Seon Mi Ko, Yong Pyo Choi, Beom Joon Kim, Jungno Lee, Jae Mun Kim, Ju Yeon Kim, Jin Yong Song, Song-Hee Kim, Bang Yeon Hwang, Jin Tae Hong, Sang-Bae Han, Youngsoo Kim
Rationale: cAMP up-regulates microphthalmia-associated transcription factor subtype M (MITF-M) and tyrosinase (Tyro) in the generation of heavily pigmented melanosomes. Here, we communicate a therapeutic mechanism of hyperpigmented disorder by α-viniferin, an active constituent of Caragana sinica . Methods: We used cAMP-elevated melanocyte cultures or facial hyperpigmented patches for pigmentation assays, and applied immunoprecipitation, immunobloting, RT-PCR or reporter gene for elucidation of the antimelanogenic mechanism...
2018: Theranostics
Wei Hu, Xian Shi, Hongwen Li, Luzhu Chen, Tingmei Wang, Yingying Dong, Yanhong Zhang, Man Hu, Xiaoli Liu, Caie Zhang, Dongxian Liu, Yunhua Deng
BACKGROUND: Novel mutations in adenosine deaminase acting on RNA 1 gene (ADAR1) are responsible for dyschromatosis symmetrica hereditaria (DSH). DSH patients display a mixture of hyperpigmented and hypopigmented macules on the dorsal aspects of the extremities, and freckle-like macules on the face. AIMS: To provide new evidence for further study of the etiopathogenisis of DSH. METHODS: Genomic DNA was extracted and used as a template for the polymerase chain reaction (PCR) amplification of all 15 coding exons as well as intron-exon boundaries of ADAR1...
March 12, 2018: Indian Journal of Dermatology, Venereology and Leprology
Nirmala Pandeya, Marina Kvaskoff, Catherine M Olsen, Adèle C Green, Susan Perry, Catherine Baxter, Marcia B Davis, Rohan Mortimore, Lorraine Westacott, Dominic Wood, Joe Triscott, Richard Williamson, David C Whiteman
A proportion of cutaneous melanomas display neval remnants on histologic examination. Converging lines of epidemiologic and molecular evidence suggest that melanomas arising from nevus precursors differ from melanomas arising de novo. In a large, population-based study comprising 636 cutaneous melanomas subjected to dermatopathology review, we explored the molecular, host and environmental factors associated with the presence of neval remnants. We found nevus-associated melanomas were significantly associated with younger age at presentation, non-brown eye color, trunk site, thickness <0...
March 7, 2018: Journal of Investigative Dermatology
M Grigore, F Furtunescu, D Minca, M Costache, C Garbe, O Simionescu
BACKGROUND: Eye and skin share the embryological origin. Both are established risk factors in epidermal skin cancer. There are few reports using iris colour classification scales, most of them analyse colour in general or are too complex to use in daily practice. OBJECTIVES: To investigate which iris colour pattern is associated with epidermal skin cancer in a S-E European Caucasian population. METHODS: A case control study was conducted on 480 patients: 229 skin cancers patients and 251 controls (dermatological patients free of skin cancers), admitted in two medical clinics of Dermatology in Bucharest, between October 2011 and May 2014...
March 10, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
Fan Yang, Song Xu, Renwang Liu, Tao Shi, Xiongfei Li, Xuebing Li, Gang Chen, Hongyu Liu, Qinghua Zhou, Jun Chen
Introduction: Neurofibromatosis type 1 (NF1) is a common Mendelian multi-system disorder that is characterized by café-au-lait spots (CLS), axillary freckling, optic glioma and plexiform neurofibroma. Various mutations of the NF1 gene are widely accepted to be the main cause of this disease, while whether there are still certain other modifier genes that could influence the phenotypes of NF1 is our concern. Patients and Methods: One proband and his father are involved, who are characterized by plexiform neurofibroma and cutaneous neurofibroma, respectively...
2018: OncoTargets and Therapy
Ryan Ghusayni, Monisha Sachdev, William Gallentine, Mohamad A Mikati, Marie T McDonald
Hemimegalencephaly is known to occur in Proteus syndrome, but has not been reported, to our knowledge, in the other PTEN mutation-related syndrome of Bannayan-Riley-Ruvalcaba. Here, we report a patient with Bannayan-Riley-Ruvalcaba syndrome who also had hemimegalencephaly and in whom the hemimegalencephaly was evident well before presentation of the characteristic manifestations of Bannayan-Riley-Ruvalcaba syndrome. An 11-year-old boy developed drug-resistant focal seizures on the fifth day of life. MRI revealed left hemimegalencephaly...
February 14, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
Scott Plensdorf, Maria Livieratos, Nabil Dada
Pigmentation disorders are commonly diagnosed, evaluated, and treated in primary care practices. Typical hyperpigmentation disorders include postinflammatory hyperpigmentation, melasma, solar lentigines, ephelides (freckles), and café au lait macules. These conditions are generally benign but can be distressing to patients. Appropriate dermatologic history, skin examination, and skin biopsy, when appropriate, can help exclude melanoma and its precursors. In addition to addressing the underlying condition, hyperpigmentation is treated with topical agents, chemical peels, cryotherapy, light or laser therapy, or a combination of these methods...
December 15, 2017: American Family Physician
Carmelo Schepis, Pinella Failla, Maddalena Siragusa, Valeria Chiavetta, Giuseppa Ruggeri, Francesco Calì
No abstract text is available yet for this article.
February 1, 2018: European Journal of Dermatology: EJD
Mrinal Gupta, Vikram K Mahajan
Background: Facial hypermelanosis is a significant cause of cosmetic disfigurement, social embarrassment and psychological morbidity affecting quality of life. Objective: To study clinicoepidemlogic patterns of facial hypermelanoses among men. Material and Methods: Medical records of all adult males presenting with facial hypermelanoses were analyzed for this retrospective cross sectional study for demographic details, duration, cosmetic usage, sun exposure, drug intake, infections, systemic or cutaneous diseases, and family history of hypermelanotic dermatosis...
December 1, 2017: Journal of Dermatological Case Reports
Shuai-Mei Liu, Meng-Xia Ni, Ming-Chao Zhang, Pei-Ran Zhu, Qiu-Yu Wu, Wei-Jun Jiang, Jing Zhang, Wei-Wei Li, Xin-Yi Xia
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant pigmentary genodermatosis, which is characterized by a mixture of hyperpigmented and hypopigmented macules on the dorsal of the hands and feet, and on the face presented like freckle. Identification of RNA-specific adenosine deaminase 1 (ADAR1) gene results in DSH. This study was mainly to explore the pathogenic mutation of ADAR1 gene and provide genetics counselling and prenatal diagnostic testing for childbearing individuals.Mutational analysis of ADAR1 gene was performed by polymerase chain reaction (PCR) and electrophoretic separation of PCR products by 1...
December 2017: Journal of Genetics
Isabelle Savoye, Iris Cervenka, Yahya Mahamat-Saleh, Marie-Christine Boutron-Ruault, Marina Kvaskoff
OBJECTIVES: In this study, we attempt to describe the profile of sunbed users among cancer-free French women. METHODS: E3N is a prospective cohort including 98,995 French women aged 40- 65 years in 1990. In 2008, a specific UV questionnaire was sent to all reported skin cancer cases and 3 controls per case, matched on age, county of birth, and education. We used logistic regression models adjusted for pigmentary traits. RESULTS: Compared with non-users, ever-users of sunbeds were younger (ptrend < ...
January 1, 2018: American Journal of Health Behavior
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
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
Hua-Feng Sun, Hai-Shan Lu, Le-Qi Sun, Wei-Dong Ping, Dong-Sheng Mao, Dan Li
BACKGROUND: Chemical peeling is an efficient method for the treatment of pigment disorders. For freckles, medium-depth to deep peeling using a phenol solution is one of the most effective chemical peels, and modifications of facial skin can be observed up to 20 years after peeling. However, applying phenol to the skin may cause serious side effects. Phenol peeling has been rarely used in Asia due to its tendency to cause permanent pigmentary changes and hypertrophic scars. METHODS: In total, 896 Chinese inpatients with facial freckles were enrolled in this study...
December 26, 2017: Aesthetic Plastic Surgery
Masataka Takamiya, Hisae Niitsu, Kiyoshi Saigusa
An autopsy case of sudden death in a 33-year-old man with neurofibromatosis type 1 (von Recklinghausen disease), pheochromocytoma, and myocarditis is reported. The decedent was found in his bedroom in cardiopulmonary arrest. Polypoid, elastic dermal papules on the neck, chest, abdomen, and back, and flat dark-brown macules on the chest and abdomen were observed. Flat, ovoid, dark-brown freckles were present in both axillae. Examination of the right adrenal gland revealed a tumor measuring 5 cm × 5 cm × 3 cm...
March 2018: American Journal of Forensic Medicine and Pathology
Barbara Hernando, Maria Victoria Ibañez, Julio Alberto Deserio-Cuesta, Raquel Soria-Navarro, Inca Vilar-Sastre, Conrado Martinez-Cadenas
Prediction of human pigmentation traits, one of the most differentiable externally visible characteristics among individuals, from biological samples represents a useful tool in the field of forensic DNA phenotyping. In spite of freckling being a relatively common pigmentation characteristic in Europeans, little is known about the genetic basis of this largely genetically determined phenotype in southern European populations. In this work, we explored the predictive capacity of eight freckle and sunlight sensitivity-related genes in 458 individuals (266 non-freckled controls and 192 freckled cases) from Spain...
March 2018: Forensic Science International. Genetics
Zhibo Yang, Biyun Zeng, Yi Pan, Pan Huang, Chang Wang
Melanin is the pigment responsible for the color of human skin and hair. Melanin serves as a double-edge sword which can exert both protective and spot-causing effects on skin. Although melanin has an important role in protecting the skin against UV damage, an excessive or uneven melanin production can lead to the formation of freckles and age spots. Isoliquiritigenin (ISL) has been reported to inhibit melanin synthesis; however, its role in melanin degradation remains unclear. In the present study, we evaluated the detailed function of ISL in melanin degradation in human epidermal keratinocytes...
October 26, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
Randa Jdid, Julie Latreille, Frédérique Soppelsa, Erwin Tschachler, Frédérique Morizot
BACKGROUND: Validated tools are essential to evaluate facial skin aging for both dermatological and cosmetic investigations. While many visual aging scales have been developed, few have been validated and none in terms of degree of distinguishability (DD). We developed and validated a series of visual scales using a novel digital interface for scoring facial skin aging in Caucasian women. MATERIALS AND METHODS: Three dermatologists independently established scales for 12 distinct aging signs from high-definition facial photographs of 400 adult women (Fitzpatrick phototypes I-IV) taken under standardized conditions...
October 22, 2017: Skin Research and Technology
Brian Tian
OBJECTIVE: The purpose of this study was to demonstrate a novel, effective, and safe way to utilize the Erb:YAG laser to clear freckles in Type III/IV Asian skin. DESIGN: This was a prospective study. SETTING: The setting was a Singapore-based clinic. PARTICIPANTS: Participants included five women, aged 25 to 38 years, three with Skin Type III and two with Skin Type IV. All of them had freckles. MEASUREMENTS: Photographs were taken pretreatment and one month after laser treatment. Three independent physicians evaluated the photographs using a grading system...
August 2017: Journal of Clinical and Aesthetic Dermatology
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