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https://www.readbyqxmd.com/read/27906547/late-diagnosis-of-pomc-deficiency-and-in-vitro-evidence-of-residual-translation-from-allele-with-c-11c-a-mutation
#1
Aleksandra S Anisimova, Petr M Rubtsov, Kseniya A Akulich, Sergey E Dmitriev, Elena Frolova, Anatoly Tiulpakov
CONTEXT: Loss-of-function mutations in the POMC gene are associated with the syndrome of adrenal insufficiency, obesity and red hair. We describe here a case of POMC deficiency, in which adrenal insufficiency was not treated until the fourth year of life. One of the disease-causative POMC mutations was characterized in vitro using a new approach. CASE DESCRIPTION: A boy presented in the first year of life with red hair, growth acceleration, moderate obesity and recurrent cholestasis, which was followed by two episodes of hypoglycemia at ages of 1...
December 1, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27892516/in-vivo-coherent-raman-imaging-of-the-melanomagenesis-associated-pigment-pheomelanin
#2
Hequn Wang, Sam Osseiran, Vivien Igras, Alexander J Nichols, Elisabeth M Roider, Joachim Pruessner, Hensin Tsao, David E Fisher, Conor L Evans
Melanoma is the most deadly form of skin cancer with a yearly global incidence over 232,000 patients. Individuals with fair skin and red hair exhibit the highest risk for developing melanoma, with evidence suggesting the red/blond pigment known as pheomelanin may elevate melanoma risk through both UV radiation-dependent and -independent mechanisms. Although the ability to identify, characterize, and monitor pheomelanin within skin is vital for improving our understanding of the underlying biology of these lesions, no tools exist for real-time, in vivo detection of the pigment...
November 28, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27890406/cutaneous-histiocytic-sarcoma-with-regional-lymph-node-metastasis-in-a-netherland-dwarf-rabbit-oryctolagus-cuniculus
#3
M R Karim, T Izawa, M Pervin, H Sasai, M Kuwamura, J Yamate
A 10-year-old male Netherland dwarf rabbit (Oryctolagus cuniculus) was presented with a red nodular mass (1 cm in diameter) with ulceration and hair loss in the skin of the left upper lip. Cytological examination revealed atypical round cells. The mass was excised surgically. Histologically, the mass was composed of large round to polyhedral neoplastic cells with marked cytological atypia. The neoplastic cells were often binucleated or multinucleated. Immunohistochemically, the neoplastic cells were intensely positive for Iba1 and vimentin, but fewer neoplastic cells expressed E-cadherin...
November 24, 2016: Journal of Comparative Pathology
https://www.readbyqxmd.com/read/27871357/contact-urticaria-with-paraphenylene-diamine-rare-or-underreported
#4
Muthu Sendhil Kumaran, Tarun Narang, Davinder Parsad
A 45-year old woman presented with a 2-day history of intensely itchy, erythematous wheals over her scalp and around her eyes, ears, and front of the chest. She had applied hair color and immediately developed hives on the scalp, face, and chest with rhinitis and redness in the eyes. The lesions recovered within a half hour of taking a cetirizine 10-mg tablet. She gave a similar history around three times in the past 6 months. She used a different brand of hair color every time but all were associated with the same symptoms...
2016: Skinmed
https://www.readbyqxmd.com/read/27852355/the-genetic-overlap-between-hair-and-eye-color
#5
Bochao D Lin, Gonneke Willemsen, Abdel Abdellaoui, Meike Bartels, Erik A Ehli, Gareth E Davies, Dorret I Boomsma, Jouke J Hottenga
We identified the genetic variants for eye color by Genome-Wide Association Study (GWAS) in a Dutch Caucasian family-based population sample and examined the genetic correlation between hair and eye color using data from unrelated participants from the Netherlands Twin Register. With the Genome-wide Complex Trait Analysis software package, we found strong genetic correlations between various combinations of hair and eye colors. The strongest positive correlations were found for blue eyes with blond hair (0...
December 2016: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/27805047/an-open-hardware-platform-for-optogenetics-and-photobiology
#6
Karl P Gerhardt, Evan J Olson, Sebastian M Castillo-Hair, Lucas A Hartsough, Brian P Landry, Felix Ekness, Rayka Yokoo, Eric J Gomez, Prabha Ramakrishnan, Junghae Suh, David F Savage, Jeffrey J Tabor
In optogenetics, researchers use light and genetically encoded photoreceptors to control biological processes with unmatched precision. However, outside of neuroscience, the impact of optogenetics has been limited by a lack of user-friendly, flexible, accessible hardware. Here, we engineer the Light Plate Apparatus (LPA), a device that can deliver two independent 310 to 1550 nm light signals to each well of a 24-well plate with intensity control over three orders of magnitude and millisecond resolution. Signals are programmed using an intuitive web tool named Iris...
November 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27771230/sox9-facilitates-proliferation-differentiation-and-lipogenesis-in-primary-cultured-human-sebocytes
#7
Ge Shi, Ting-Ting Wang, Juan-Hua Quan, Shi-Jie Li, Man-Feng Zhang, Pei-Yu Liao, Yi-Ming Fan
BACKGROUND: The transcription factor Sox9 is pivotal in the morphogenesis of hair follicles, but its role in sebocytes is poorly understood. OBJECTIVE: We investigated the effect of Sox9 on human sebocyte proliferation, differentiation and lipogenesis. METHODS: Sox9 expression was detected by immunohistochemistry in normal skin and acne lesion. Primary cultured human sebocytes were transfected with adenovirus expressing GFP-Sox9 or Sox9 microRNA...
October 13, 2016: Journal of Dermatological Science
https://www.readbyqxmd.com/read/27766958/more-comprehensive-forensic-genetic-marker-analyses-for-accurate-human-remains-identification-using-massively-parallel-dna-sequencing
#8
Angie D Ambers, Jennifer D Churchill, Jonathan L King, Monika Stoljarova, Harrell Gill-King, Mourad Assidi, Muhammad Abu-Elmagd, Abdelbaset Buhmeida, Bruce Budowle
BACKGROUND: Although the primary objective of forensic DNA analyses of unidentified human remains is positive identification, cases involving historical or archaeological skeletal remains often lack reference samples for comparison. Massively parallel sequencing (MPS) offers an opportunity to provide biometric data in such cases, and these cases provide valuable data on the feasibility of applying MPS for characterization of modern forensic casework samples. In this study, MPS was used to characterize 140-year-old human skeletal remains discovered at a historical site in Deadwood, South Dakota, United States...
October 17, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27766696/clinical-ultrasonographic-and-arthroscopic-characteristics-of-hair-shafts-within-synovial-structures-of-seven-horses
#9
Jessica L Partlow, Meghann Lustgarten, W Rich Redding
To the authors' knowledge, the ultrasonographic appearance of hair shafts within a synovial structure of the horse has not been described previously. The purpose of this descriptive study was to illustrate the clinical, ultrasonographic, and arthroscopic characteristics of confirmed hair shafts within synovial structures of seven horses. A review of medical records of the Farm and Equine Veterinary Medical Center at North Carolina State University College of Veterinary Medicine identified seven horses with clinical signs suspicious for inflammatory or septic synovitis/tenosynovitis that had hair shafts identified within those structures ultrasonographically...
October 20, 2016: Veterinary Radiology & Ultrasound
https://www.readbyqxmd.com/read/27761085/outcome-of-intra-operative-injected-platelet-rich-plasma-therapy-during-follicular-unit-extraction-hair-transplant-a-prospective-randomised-study-in-forty-patients
#10
Suruchi Garg
CONTEXT: Platelet-rich plasma (PRP) therapy is finding importance in aesthetic medicine. AIM: The objective of this study was to study efficacy of PRP therapy in follicular unit extraction (FUE) hair transplant. MATERIALS AND METHODS: It is a single-blind, prospective randomised study on 40 FUE hair transplant subjects, allocated in two groups (PRP and non-PRP) alternately. PRP was injected intra-operatively immediately after creating slits over the recipient area in PRP group; and normal saline in non-PRP group...
July 2016: Journal of Cutaneous and Aesthetic Surgery
https://www.readbyqxmd.com/read/27755135/genetic-analysis-of-melanocortin-1-receptor-red-hair-color-variants-in-a-russian-population-of-eastern-siberia
#11
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/27752476/shining-light-on-the-head-photobiomodulation-for-brain-disorders
#12
Michael R Hamblin
Photobiomodulation (PBM) describes the use of red or near-infrared light to stimulate, heal, regenerate, and protect tissue that has either been injured, is degenerating, or else is at risk of dying. One of the organ systems of the human body that is most necessary to life, and whose optimum functioning is most worried about by humankind in general, is the brain. The brain suffers from many different disorders that can be classified into three broad groupings: traumatic events (stroke, traumatic brain injury, and global ischemia), degenerative diseases (dementia, Alzheimer's and Parkinson's), and psychiatric disorders (depression, anxiety, post traumatic stress disorder)...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27681342/hair-analysis-to-monitor-the-illegal-use-of-salbutamol-in-beef-cattle
#13
Kai Zhang, Xiaowei Liang, Junmin Zhang, Qingyu Zhao, Shengsheng Liu, Chaohua Tang, Chuanyou Su, Qingshi Meng
This study measured the concentrations of salbutamol residues in red and white hair of cattle during and after salbutamol administration. Three Chinese Simmental beef cattle received an oral administration of 150 μg/kg body weight/d salbutamol for 21 consecutive days. Salbutamol concentrations were determined on Days 1, 7, 14, and 21 of administration and on Days 7, 14, 28, 42, and 70 following the last administration dose using ultra-performance liquid chromatography-tandem mass spectrometry. The concentrations of salbutamol that eluted from hair were determined...
September 27, 2016: Journal of Analytical Toxicology
https://www.readbyqxmd.com/read/27617940/nilontinib-induced-keratosis-pilaris-atrophicans
#14
Shilpi Khetarpal, Apra Sood, Steven D Billings
Keratosis pilaris (KP) is a disorder of follicular keratinization that is characterized by keratin plugs in the hair follicles with surrounding erythema. A 46-year-old man with chronic myelogenous leukemia (CML) was started on nilotinib, a second generation tyrosine kinase inhibitor (TKI). Two months later the patient noticed red bumps on the skin and patchy hair loss on the arms, chest, shoulders, back, and legs. Cutaneous reactions to nilotinib are the most frequent non-hematologic adverse effects reported...
August 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27584943/cubic-protocol-visualizes-protein-expression-at-single-cell-resolution-in-whole-mount-skin-preparations
#15
Huazheng Liang, Bassem Akladios, Cesar P Canales, Richard Francis, Edna H Hardeman, Annemiek Beverdam
The skin is essential for our survival. The outer epidermal layer consists of the interfollicular epidermis, which is a stratified squamous epithelium covering most of our body, and epidermal appendages such as the hair follicles and sweat glands. The epidermis undergoes regeneration throughout life and in response to injury. This is enabled by K14-expressing basal epidermal stem/progenitor cell populations that are tightly regulated by multiple regulatory mechanisms active within the epidermis and between epidermis and dermis...
2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/27574107/identification-and-characterization-of-n-tert-butoxycarbonyl-mdma-a-new-mdma-precursor
#16
Michael Collins, Christopher Donnelly, Shane Cameron, Mark Tahtouh, Helen Salouros
In September 2015, eighty litres of a viscous, light-red liquid, described as hair product, was seized by the Australian Border Force (ABF). Initial testing by ABF indicated that the liquid was the MDMA precursor chemical safrole and custody of the material was transferred to the Australian Federal Police (AFP) who coordinated all subsequent investigations. Initial gas chromatography-mass spectrometry (GC-MS) analysis by AFP indicated that the material was not safrole and samples of the liquid were transferred to the National Measurement Institute Australia (NMIA) for identification...
August 30, 2016: Drug Testing and Analysis
https://www.readbyqxmd.com/read/27533123/effects-of-hair-sprays-on-color-perception-a-hyperspectral-imaging-approach-to-shine-and-chroma-on-heads
#17
Germain Puccetti, William Thompson
OBJECTIVES: Hair sprays apply fixative ingredients to provide hold to a hair style as well as weather resistance and optical properties such as shine. Generally, sprays distribute fine particles containing polymeric ingredients to form a thin film on the surface of hair. Different hair types require different strengths of the formed deposit on the hair surface. The present study shows how sprays also alter the visibility of the hair color by altering the surface topology of the hair fibers...
August 17, 2016: International Journal of Cosmetic Science
https://www.readbyqxmd.com/read/27525030/unique-wing-scale-photonics-of-male-rajah-brooke-s-birdwing-butterflies
#18
Bodo D Wilts, Marco A Giraldo, Doekele G Stavenga
BACKGROUND: Ultrastructures in butterfly wing scales can take many shapes, resulting in the often striking coloration of many butterflies due to interference of light. The plethora of coloration mechanisms is dazzling, but often only single mechanisms are described for specific animals. RESULTS: We have here investigated the male Rajah Brooke's birdwing, Trogonoptera brookiana, a large butterfly from Malaysia, which is marked by striking, colorful wing patterns...
2016: Frontiers in Zoology
https://www.readbyqxmd.com/read/27516961/in-vivo-response-of-gsdma3-dfl-mice-to-topically-applied-fish-oil-effects-on-cellular-markers-and-macrophages
#19
Mohd Hanif Zulfakar, Rebecca M Porter, Charles M Heard
Psoriasis is an incurable autoimmune disease characterized by patches of abnormal red, itchy and scaly skin. This work examined the modulation of inflammation, hyperproliferation and immune cell markers following topical application of fish oil (FO) in comparison to the antipsoriatic agents, betamethasone dipropionate (BD) and salicylic acid (SA), to GsdmA3(Dfl)/+ mice, a hair loss mutant which also exhibits epidermal hyperproliferation akin to psoriasis. The mice were dosed with 100 mg of the test formulation and after 10 days, the mice were sacrificed, skin sections excised and subjected to immunohistochemical determination of COX-2, K17 and MAC-1; and immunofluorescence of Ki-67...
August 2016: FEBS Open Bio
https://www.readbyqxmd.com/read/27516655/anti-freckles-herbal-treatment-in-iranian-traditional-medicine
#20
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
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