- Multimodal imaging in a patient with Prader-Willi syndrome. [Journal Article]
- IJInt J Retina Vitreous 2018; 4:45
- CONCLUSIONS: We report a presumed association of fovea plana and choroidal neovascularization with PWS. The use of multimodal imaging revealed novel findings in a PWS patient that might enrich our current understanding of the overlap between PWS and OCA.
- A non-coding regulatory variant in the 5'-region of the MITF gene is associated with white-spotted coat in Brown Swiss cattle. [Journal Article]
- AGAnim Genet 2018 Dec 02
- Recently, the Swiss breeding association reported an increasing number of white-spotted cattle in the Brown Swiss breed, which is normally solid brown coloured. A total of 60 Brown Swiss cattle with ...
Recently, the Swiss breeding association reported an increasing number of white-spotted cattle in the Brown Swiss breed, which is normally solid brown coloured. A total of 60 Brown Swiss cattle with variably sized white abdominal spots, facial markings and depigmented claws were collected for this study. A genome-wide association study using 40k SNP genotypes of 20 cases and 1619 controls enabled us to identify an associated genome region on chromosome 22 containing the MITF gene, encoding the melanogenesis associated transcription factor. Variants at the MITF locus have been reported before to be associated with white or white-spotted phenotypes in other species such as horses, dogs and mice. Whole-genome sequencing of a single white-spotted cow and subsequent genotyping of 172 Brown Swiss cattle revealed two significantly associated completely linked single nucleotide variants (rs722765315 and rs719139527). Both variants are located in the 5'-regulatory region of the bovine MITF gene, and comparative sequence analysis showed that the variant rs722765315, located 139 kb upstream of the transcription start site of the bovine melanocyte-specific MITF transcript, is situated in a multi-species conserved sequence element which is supposed to be regulatory important. Therefore, we hypothesize that rs722765315 represents the most likely causative variant for the white-spotting phenotype observed in Brown Swiss cattle. Presence of the mutant allele in a heterozygous or homozygous state supports a dominant mode of inheritance with incomplete penetrance and results in a variable extent of coat colour depigmentation.
- Lymphoid Stress Surveillance Response Contributes to Vitiligo Pathogenesis. [Journal Article]
- FIFront Immunol 2018; 9:2707
- Vitiligo is a chronic multifactorial depigmentation disorder characterized by the destruction and functional loss of melanocytes. Although a direct cytotoxic T cell attack is thought to be responsibl...
Vitiligo is a chronic multifactorial depigmentation disorder characterized by the destruction and functional loss of melanocytes. Although a direct cytotoxic T cell attack is thought to be responsible for melanocyte damage, the events leading to the loss of self-tolerance toward melanocytic antigens are not understood. This research aimed to identify novel cellular and molecular factors that participate in vitiligo pathogenesis through the application of gene expression and immunofluorescence analysis of skin biopsy samples along with immunophenotyping of circulating cells. Our study provides insights into the mechanisms involved in melanocyte destruction. The upregulation of stress-ligand MICA/MICB, recognized by activating receptors on innate and innate-like T cells, imply involvement of lymphoid stress surveillance responses in vitiligo lesions. A simultaneous increase in the expression of transcription factor EOMES that is characteristic for innate-like virtual memory T cells, suggest a similar scenario. Local lymphoid stress surveillance has been previously associated with the amplification of systemic humoral responses that were mirrored in our study by increased T follicular helper cells and switched memory B cell proportions in patients with active vitiligo. In addition, microtubule-associated protein light chain 3 staining was compatible with the activation of autophagy in keratinocytes and in the remaining melanocytes of vitiligo lesional skin.
- Determination of lethal dose of Aeromonas hydrophila Ah17 strain in snake head fish Channa striata. [Journal Article]
- MPMicrob Pathog 2018 Nov 27; 127:7-11
- Aeromonas hydrophila is a major bacterial fish pathogen which causes economic losses in the aquaculture. The study determined the Letha Dose (LD50-96h) of A. hydrophila Ah17 strain (isolated from EUS...
Aeromonas hydrophila is a major bacterial fish pathogen which causes economic losses in the aquaculture. The study determined the Letha Dose (LD50-96h) of A. hydrophila Ah17 strain (isolated from EUS infected Channa striata) in C. striata. C. striata were challenged with three different concentration of A. hydrophila Ah17 strain 1.0 × 107, 1.0 × 108, 1.0 × 109 CFU/mL. The LD50-96h values were found to be 4.1 × 108 CFU/mL. Percentage of mortality was observed as 10%, 40% and 70% in 1.0 × 107, 1.0 × 108 and 1.0 × 109 CFU/mL respectively in challenged fish. Microbial load was calculated on muscle, kidney, liver and spleen with highest load was observed in muscle and lowest in kidney. Level of liver enzymes such as Aspartate aminotransferase (AST), Alanine Aminotransferase (ALT), and Alkaline Phosphatase (ALP) were increased compared to control fish. Level of mRNA expression of antioxidant genes such as Catalase (cat), Manganese Superoxide Dismutase (MnSOD), Glutathione Peroxidase (GPx) were high in liver tissue of all treated groups than control. Clinical signs were observed after intraperitoneal treatment of Ah17 in C. striata. Clinical signs such as lesions on the site of injection, imbalanced state, changes in the movement of pectoral fins, depigmentation on the tail of caudal fin and irregular lesions on the muscle region were observed. Thus the study concluded that, the LD50-96h value of A. hydrophila Ah17 strain was 4.1 × 108 CFU/mL and exhibited potential pathogenic effect upon experimental infection in snakehead murrel C. striata.
- Clinical Evaluation of Safety and Efficacy of Fractional Radiofrequency Facial Treatment of Skin Type VI Patients [Journal Article]
- JDJ Drugs Dermatol 2018 Nov 01; 17(11):1169 - 1172
- INTRODUCTION: It has been well established that patients with darker skin types (Fitzpatrick skin types IV-VI) have an increased incidence of thermal induced side effects from laser and radio freque...
INTRODUCTION: It has been well established that patients with darker skin types (Fitzpatrick skin types IV-VI) have an increased incidence of thermal induced side effects from laser and radio frequency (RF) treatments. Complications include a higher risk of post-inflammatory hyperpigmentation, hypopigmentation, and scarring, leading to unsatisfactory clinical outcomes. Fractional technologies improve the safety when treating patients with skin of color by treating only fractions of the skin while leaving a healing reservoir of untreated skin that improves the healing process. Fractional RF tips with coated pins may offer a more advantageous safety profile, particularly in the skin-of-color population (Fitzpatrick skin types IV-VI) by increasing the protection of the epidermal layer by minimizing epidermal heating The current study was intended to evaluate the safety and efficacy of fractional RF technology for the treatment of patients with Fitzpatrick skin type VI. METHODS: 35 subjects with skin type VI received 3 sessions of facial treatments, 4 weeks apart using a fractional RF device with 24 pin coated tip. The treatment's safety and efficacy were evaluated at 2 follow-up visits, 6 and 12 weeks after the last treatment. RESULTS: Skin characteristics evaluations, including Fitzpatrick Wrinkles Classification, acne scars, and overall facial appearance demonstrated improvement in follow-up visits comparing to baseline. No significant unexpected adverse events were detected. CONCLUSION: The current study proves the safety and efficacy of the fractional RF treatment modality with coated pins tips for skin rejuvenation treatments resulting in improved wrinkles, acne scars, and overall skin appearance, in patients with skin type VI. J Drugs Dermatol. 2018;17(11):1169-1172.
- Anti-melanogenesis potential of a new series of Morita-Baylis-Hillman adducts in B16F10 melanoma cell line. [Journal Article]
- BCBioorg Chem 2018 Nov 19; 84:17-23
- Melanin is a natural polymer pigment which provides skin photoprotection against ultraviolet radiation. An excessive synthesis of melanin leads to hyperpigmentation disorders. Tyrosinase catalyzes th...
Melanin is a natural polymer pigment which provides skin photoprotection against ultraviolet radiation. An excessive synthesis of melanin leads to hyperpigmentation disorders. Tyrosinase catalyzes the rate limiting steps on melanogenesis. Therefore, tyrosinase inhibitors have potential applications in medicine and cosmetic fields. We carried out herein the screening of a family of cyclic Morita-Baylis-Hillman adducts (MBH) to find out their effects on tyrosinase activity and on melanogenesis in murine melanoma B16F10 cell line. Kinetic analysis of tyrosinase inhibition showed that compounds 1a (2-hydroxymethyl) cyclohex-2-enone) and 3f (diethyl (1-(6-oxocyclohex-1-en-1-yl) ethyl-phosphonate) were competitive inhibitors, whereas the compound 2b (6-oxocyclohex-1-en-1-yl) ethyl acetate) was a non-competitive one. Additionally we have found that (1a, 2b and 3f) compounds had a strong melanogenesis inhibition effect in isobutylmethylxanthine (IBMX)-treated murine melanoma B16F10 cells when tested at low and non cytotoxic dose (10-50 µM), by attenuating the melanin production, intracellular tyrosinase activity and tyrosinase expression. Thus, we suggest that these compounds could be used as effective skin-whitening agents.
- Follow up at 5 Years of Non-Fibrotic Scars in the Comparison of Age-related Macular Degeneration Treatments Trials (CATT). [Journal Article]
- OOphthalmology 2018 Nov 23
- CONCLUSIONS: These results indicate that, on average, eyes with NFS after anti-VEGF treatment have good visual acuity not only at 1 and 2 years, but also through 5 years.
- Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene. [Journal Article]
- BJBr J Ophthalmol 2018 Nov 24
- CONCLUSIONS: The R402Q variant leads to variable but generally mild forms of albinism whose less typical presentation may lead to underdiagnosis.
- Surgical deroofing in the treatment of patients with auricular pseudocyst. [Journal Article]
- ANAuris Nasus Larynx 2018 Nov 20
- CONCLUSIONS: This reliable and simple approach may be recommended as first line treatment for auricular pseudocysts to avoid recurrence and complications associated with other treatment modalities, such as cartilage deformity, skin depigmentation, and scarring.
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- Treatment with Modified Heat Shock Protein Repigments Vitiligo Lesions in Sinclair Swine. [Journal Article]
- JIJ Invest Dermatol 2018; 138(12):2505-2506
- HSP70i is secreted by stressed melanocytes, is associated with human vitiligo lesions, and functionally contributes to a mouse model of vitiligo. Henning et al. report that treatment with a modified ...
HSP70i is secreted by stressed melanocytes, is associated with human vitiligo lesions, and functionally contributes to a mouse model of vitiligo. Henning et al. report that treatment with a modified version of the protein reversed depigmentation in Sinclair swine, a useful animal model of vitiligo. These studies provide the rationale for testing in human studies.