Zobrazení zdroje stránky Goldbergbrandt1946

Key risk factors based on high attributable risk include any overnight wear, failing to wash and dry hands prior to handling lenses and poor storage case hygiene practice. The strong link between microbial keratitis and storage case hygiene and replacement suggests the relevance of microbial contamination of the storage case. Both risk factors and evidence-based strategies for limiting storage case contamination are presented, including storage case cleaning protocols and antimicrobial storage cases; however, it is unclear if such interventions can ultimately limit the rate or severity of microbial keratitis in daily wear. Emerging challenges include understanding and limiting the risk of infection associated with decorative or cosmetic contact lens wear, particularly in Asia, and in understanding the safety of contact lens modalities for myopia control in a paediatric population. © 2020 Optometry Australia.INTRODUCTION Biallelic mutations in TBC1-domain containing kinase (TBCK) lead to hypotonia, global developmental delay with severe cognitive and motor deficits, and variable presentation of dysmorphic facial features and brain malformations. It remains unclear whether hypotonia in these individuals is purely neurogenic, or also caused by progressive muscle disease. METHODS Whole exome sequencing was performed on a family diagnosed with non-specific myopathic changes via histological analysis and immunohistochemistry of muscle biopsy samples. RESULTS A novel homozygous truncation in TBCK was found in two sisters diagnosed with muscle disease and severe psychomotor delay. TBCK was completely absent in these patients. DISCUSSION Our findings identify a novel early truncating variant in TBCK associated with a severe presentation and add muscle disease to the variability of phenotypes associated with TBCK mutations. Inconsistent genotype/phenotype correlation could be ascribed to the multiple roles of TBCK in intracellular signaling and endolysosomal function in different tissues. This article is protected by copyright. All rights reserved. This article is protected by copyright. [https://www.selleckchem.com/products/LY335979.html Zosuquidar clinical trial] All rights reserved.Agminated nevus refers to a clustered group of melanocytic nevi confined to a localized area of the body. It rarely involves acral skin, but recognition of acquired agminated nevus (AAN) in the acral area is clinically important because it may mimic acral lentiginous melanoma (ALM). However, acral AAN has only been described in a few case reports and its clinical characteristics remain unclear. We report three additional cases of acral AAN to further analyze the differential points between ALM. Clinical images, including those of dermoscopy, of three cases of acral AAN were reviewed. The lesions were located on the sole or lateral border of the foot. All acral AAN were flat and large in size (&gt;20&nbsp;mm in greatest dimension), and associated with asymmetry and irregular border. However, no parallel ridge pattern suggesting ALM was observed on dermoscopy. In two patients, the lesions on the sole were totally resected; microscopic evaluation of these two lesions confirmed junctional nests of banal melanocytes. AAN lesions on the sole with chronic mechanical pressure are slightly larger and more diffuse; thus, they may be more likely to be overdiagnosed as malignancy upon inspection than those in the non-acral area. Understanding the concept of the disease and careful dermoscopic evaluation leads to an accurate diagnosis. © 2020 Japanese Dermatological Association.In the analysis by electrospray (+) of an extract of hemp sprouts put in a polypropylene vial, we found a large contamination of a plastic additive. It was characterized by multiple-stage MSn experiments (MS ÷ MS10 ) and identified as tris(2,4-di-tert-butylphenyl)phosphate, also known with the synonyms F32IRS6B46, oxidized Naugard 524, and others. The MS2 ÷ MS7 spectra are characterized by consecutive eliminations of six isobutene molecules from the tert-butyl moieties, some of them also occurring in the ion source. The first three are calculated to occur preferentially from the ortho positions, whereas eliminations from the para positions are estimated to be less favored at about 5-6 kcal/mol in each step. Once the first three isobutene molecules are eliminated, the remaining three are lost from the tert-butyl moieties in para positions (MS5 ÷ MS7 ), yielding protonated triphenylphosphate, whose structure has been confirmed by the MS2 spectrum of triphenylphosphate standard the latter spectrum is almost superimposable with the MS8 spectrum of the analyte under investigation. MS8 and MS9 spectra show main losses of water and C6 H4 molecules. The MS10 spectrum of precursor ions at m/z 215 shows the gas-phase addition of water and methanol and ions at m/z 168, attributable to the loss of a phosphorus oxide radical. Density functional theory (DFT) calculations (Becke 3LYP [B3LYP] 6-311+G(2d,2p)) have been used to evaluate structure and stability of different ionic and neutral species involved in the decomposition pathways and to calculate thermochemical data of the decomposition reactions. This multistep mass analysis combined with theoretical calculations resulted to be particularly useful and effective, yielding chemical, thermochemical, and mechanistic data of significant utility in the structural characterization and identification of the unknown analyte as well as to define its gas-phase reactivity under a multistep low-energy collision-induced dissociation regime. © 2020 John Wiley &amp; Sons, Ltd.INTRODUCTION Dysferlin-deficient murine muscle sustains severe damage after repeated eccentric contractions. METHODS With a robotic dynamometer, we studied the response of dysferlin-sufficient and -deficient mice to 12 weeks of concentrically- or eccentrically-biased contractions. We also studied whether concentric contractions before or after eccentric contractions reduced muscle damage in dysferlin-deficient mice. RESULTS After 12 weeks of concentric training, there was no net gain in contractile force in dysferlin-sufficient or -deficient mice, whereas eccentric training produced a net gain in force in both mouse strains. However, eccentric training induced more muscle damage in dysferlin-deficient versus -sufficient mice. Although concentric training produced minimal muscle damage in dysferlin-deficient mice, it still led to a prominent increase in centrally-nucleated fibers. Prior exposure to concentric contractions conferred slight protection on dysferlin-deficient muscle against damage from subsequent eccentric contractions.