- Burden of albinism: development and validation of a burden assessment tool. [Journal Article]
- OJOrphanet J Rare Dis 2018 Sep 18; 13(1):162
- CONCLUSIONS: This questionnaire represents the first specific assessment tool for evaluating the burden of albinism. It is easy to use and relatively quick to complete, which will allow the burden to be evaluated over time with a reproducible questionnaire. To ensure that this questionnaire can be used by as many people as possible, cultural and linguistic validation in US English was conducted with the original French version.
- Potential anti-vitiligo properties of cynarine extracted from Vernonia anthelmintica (L.) Willd. [Journal Article]
- IJInt J Mol Med 2018 Sep 06
- Vitiligo is a depigmentation disorder of the skin. It is primarily caused by the destruction of melanocytes or obstruction of the melanin synthesis pathway. Melanin is a type of skin pigment that det...
Vitiligo is a depigmentation disorder of the skin. It is primarily caused by the destruction of melanocytes or obstruction of the melanin synthesis pathway. Melanin is a type of skin pigment that determines skin color. The seeds of Vernonia anthelmintica (L.) Willd (Kaliziri) are used for treating skin diseases including vitiligo in traditional Uyghur medicine. 1,5‑Dicaffeoylquinic acid (1,5‑diCQA) is a natural polyphenolic compound widely distributed in plants and extracted from Kaliziri seeds. Therefore, in the present study, the effect of 1,5‑diCQA on melanin synthesis in B16 cell was evaluated, and its molecular mechanism was explored. The results indicated that 1,5‑diCQA treatment of B16 cells stimulated an increase of intracellular melanin level and tyrosinase (TYR) activity without cytotoxicity. Reverse transcription quantitative polymerase chain reaction results also indicated that 1,5‑diCQA may markedly improve the protein expression and RNA transcription of microphthalmia‑associated transcription factor (MITF), melanogenic enzyme Tyr, tyrosinase‑related protein 1 (TRP 1) and tyrosinase‑related protein 2 (TRP 2). Additional results identified that 1,5‑diCQA may promote the phosphorylation of p38 mitogen‑activated protein kinase (p38 MAPK) and extracellular signal‑regulated kinase (ERK) MAPK. Notably, the increased levels of intracellular melanin synthesis and tyrosinase expression induced by 1,5‑diCQA treatment were significantly attenuated by the protein kinase A (PKA) inhibitor H‑89. Intracellular cyclic adenosine monophosphate (cAMP) concentration and phosphorylation of cAMP‑response element binding protein was increased following 1,5‑diCQA treatment. These results indicated that 1,5‑diCQA stimulated melanogenesis via the MAPK and cAMP/PKA signaling pathways in B16 cells, which has potential therapeutic implications for vitiligo.
- The BACE-1 inhibitor CNP520 for prevention trials in Alzheimer's disease. [Journal Article]
- EMEMBO Mol Med 2018 Sep 17
- The beta-site amyloid precursor protein cleaving enzyme-1 (BACE-1) initiates the generation of amyloid-β (Aβ), and the amyloid cascade leading to amyloid plaque deposition, neurodegeneration, and dem...
The beta-site amyloid precursor protein cleaving enzyme-1 (BACE-1) initiates the generation of amyloid-β (Aβ), and the amyloid cascade leading to amyloid plaque deposition, neurodegeneration, and dementia in Alzheimer's disease (AD). Clinical failures of anti-Aβ therapies in dementia stages suggest that treatment has to start in the early, asymptomatic disease states. The BACE-1 inhibitor CNP520 has a selectivity, pharmacodynamics, and distribution profile suitable for AD prevention studies. CNP520 reduced brain and cerebrospinal fluid (CSF) Aβ in rats and dogs, and Aβ plaque deposition in APP-transgenic mice. Animal toxicology studies of CNP520 demonstrated sufficient safety margins, with no signs of hair depigmentation, retina degeneration, liver toxicity, or cardiovascular effects. In healthy adults ≥ 60 years old, treatment with CNP520 was safe and well tolerated and resulted in robust and dose-dependent Aβ reduction in the cerebrospinal fluid. Thus, long-term, pivotal studies with CNP520 have been initiated in the Generation Program.
- Arthritis Mutilans in Systemic Sclerosis. [Journal Article]
- ARArthritis Rheumatol 2018 Sep 17
- A 40-year-old gentleman was diagnosed with anti-topoisomerase-I antibody positive diffuse cutaneous systemic sclerosis (SSc). Raynaud's phenomenon, diffuse skin sclerosis and severe interstitial lung...
A 40-year-old gentleman was diagnosed with anti-topoisomerase-I antibody positive diffuse cutaneous systemic sclerosis (SSc). Raynaud's phenomenon, diffuse skin sclerosis and severe interstitial lung disease (ILD) were the onset features causing digital ischemia, disability and dyspnea. He subsequently developed inflammatory polyarthritis (IA) with hands and wrists involvement. His brother had psoriasis. Physical examination showed fingertip pitting scars, subcutaneous calcinosis, skin sclerosis with hyper- and hypopigmentation, flexion and extension contractures and shortened fingers (Figure 1.A). This article is protected by copyright. All rights reserved.
- [Multiple hypochromic or achromic macules in children and risk of tuberous sclerosis]. [Journal Article]
- ADAnn Dermatol Venereol 2018 Sep 11
- CONCLUSIONS: No identified characteristics of stains enabled the clinical examination to confirm or rule out tuberous sclerosis. Screening for acute any signs of ST is essential. Diagnostic efficacy is enhanced by additional exams.
- Non-insulated Fractional Microneedle Radiofrequency Treatment with Smooth Motor Insertion for Reduction of Depressed Acne Scars, Pore Size, and Skin Texture Improvement: A Preliminary Study. [Journal Article]
- JCJ Clin Aesthet Dermatol 2018; 11(8):41-44
- Background: Severe scarring caused by acne is associated with substantial physical and psychological distress, both in adolescents and adults. There are two basic types of scars: atrophic (depressed...
Background: Severe scarring caused by acne is associated with substantial physical and psychological distress, both in adolescents and adults. There are two basic types of scars: atrophic (depressed) and raised (hypertrophic). Microneedle fractional radiofrequency (MFRF) is a new technology that uses extra sharp microneedles to heat the depths of the dermis, which promotes dermal collagen remodeling. In this study, we used electronically controlled non-insulated microneedle radiofrequency treatment to treat atrophic acne scars, improve skin texture, and reduce pore size. Methods: Nineteen patients were enrolled in the study. The goal of the treatment was to improve acne scars and skin texture and to reduce pore size. Each patient received 2 to 6 treatments with one month intervals between treatments. Treated areas were visually assessed for skin response, including edema, erythema, and burns. We used the standard pain scale of 0 to 10 to assess pain during and after treatment. Results: All the patients completed a series of 2 to 6 treatments. No adverse events as burns, scarring, or hyper/hypopigmentation were reported. Subjective pain assessment was the average point of 1.5, as reported by the patients. The subjective and objective questionnaire revealed high satisfaction from the treatment. Conclusions: The presented study results show that the MFRF treatment provides a highly effective minimally invasive treatment for acne scars, skin texture improvement, and pore size reduction, with a short downtime and high subjective satisfaction rates.
- IGF-1 resist oxidative damage to HaCaT and depigmentation in mice treated with H2O2. [Journal Article]
- BBBiochem Biophys Res Commun 2018 Sep 18; 503(4):2485-2492
- Vitiligo, an acquired pigmentary disorder of the skin, is characterized by a chronic and progressive loss of melanocyte from the epidermis and follicular reservoir. Growth factor of surrounding cells...
Vitiligo, an acquired pigmentary disorder of the skin, is characterized by a chronic and progressive loss of melanocyte from the epidermis and follicular reservoir. Growth factor of surrounding cells impacted on melanocytes survival. In this study, lower level of IGF-1 in the lesion was found than that in the donor area of vitiligo patients. IGF-1 improved activation of Nrf2, and inhibited ROS generation and endoplasmic reticulum dilation in HaCaT. C57BL/6 mice were treated with 5% H2O2, and combined with 50 μg/kg of IGF-1 pre-treatment or not once every day for 50 consecutive days. After 50 days, IGF-1 obviously ameliorated depigmentation of mice skin and reduced hair follicle length, skin thickness and Tyrosinase induced by H2O2. Moreover, IGF-1 significantly suppressed CD8+ T cells infiltration in mice skin, inhibited the production of IL-2 and IFN-γ, and decreased the expression of CXCL10 and CXCR3. Thus, the results indicated that IGF-1 could resist oxidative damage to HaCaT, suppress CD8+ T cells infiltration and pro-inflammatory cytokines secretion, and suppresses the thinning of epidermal layer in vivo. It suggests that IGF-1 inhibits oxidative damage to HaCaT and immunosuppressive effects on CD8+ T cells proliferation and activation to resist depigmentation induced by H2O2. This disclosed its multiple roles in the vitiligo, and shed a light on developing the application potential for IGF-1 in vitiligo.
- The Largest Mass Poisoning in History: Arsenic Contamination of Well Water in Bangladesh. [Journal Article]
- SSkinmed 2018; 16(4):265-267
- Arsenic is a naturally occurring compound that is widely distributed in trace quantities in the environment. Levels toxic to humans have been found contaminating certain regions of the world and thei...
Arsenic is a naturally occurring compound that is widely distributed in trace quantities in the environment. Levels toxic to humans have been found contaminating certain regions of the world and their groundwater, leading to deleterious effects. In fact, an estimated 150 million people are affected by arsenic contamination worldwide.1 Arsenic poisoning leads to several adverse health effects, including cancer of the lung, bladder, and kidney, neurologic disorders, cardiovascular disease, peripheral vascular disease, hypertension, pulmonary disease, and diabetes mellitus.2 Skin lesions are a common manifestation of arsenic poisoning. Early findings include diffuse or spotted melanosis, leukomelanosis, and depigmentation. Years of chronic arsenic poisoning can lead to acral keratoses and squamous cell carcinoma of the skin.3.
- Oral features of Griscelli syndrome type II: A rare case report. [Case Reports]
- SCSpec Care Dentist 2018 Sep 12
- Griscelli syndrome (GS) is an autosomal-recessive disorder of the vesicle transport and membrane trafficking system first identified by Griscelli et al in 1978. The three types of GS have specific ge...
Griscelli syndrome (GS) is an autosomal-recessive disorder of the vesicle transport and membrane trafficking system first identified by Griscelli et al in 1978. The three types of GS have specific genetic defects and systemic manifestations apart from classic partial pigmentary dilution, resulting in hypopigmentation of skin and silvery hair. GS-II occurs due to a defect in the Rab27a gene and is characterized by primary immune deficiency along with accelerated phases of a hemophagocytic lymphohistiocytosis (HLH) crisis. This rare disorder has been widely studied for dermatological, hematological, and neurological manifestations; however, the oral features and presentations have not been elucidated in detail. This report presents a case of a 4-year-old male with known mutation c.550C > T or p.R184X mutation (ENST00000396307) in Rab27a with oral features.
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- An insight into gingival depigmentation techniques: The pros and cons. [Review]
- IJInt J Health Sci (Qassim) 2018 Sep-Oct; 12(5):84-89
- Pigmentation of gingiva not just has an impact on esthetics but also creates psychological negativity. Although a wide array of depigmentation techniques are available to manage this condition, there...
Pigmentation of gingiva not just has an impact on esthetics but also creates psychological negativity. Although a wide array of depigmentation techniques are available to manage this condition, there is a scarcity of literature that guides clinicians to choose the most appropriate technique. Hence, the aim of this review is to evaluate the available depigmentation therapeutic modalities with an emphasis on their merits and demerits. The databases of MEDLINE and Cochrane databases of systematic reviews were searched to collect relevant scientific literature. Cryosurgery followed by lasers has been reported to be the superior techniques with better esthetic results and low rate of recurrence. However, further randomized controlled longitudinal studies are warranted to elaborate the efficiency and effectiveness of available techniques.