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Objective: To evaluate the degree of neuroaxonal injury in Japanese multiple sclerosis (MS) patients using serum neurofilament light (sNfL) and to investigate the relationship of sNFL with the degree of brain volume., Methods: sNfL levels in 82 consecutive Japanese MS patients in remission were cross-sectionally evaluated using a single molecule array assay. Within this sample, cross-sectional volumetric brain MRI data was evaluated in 80 patients, and longitudinal data was evaluated in 63 patients., Results: MS patients (female/male = 61/21), including those with relapsing-remitting MS (82%), secondary progressive MS (17%), and primary progressive MS (1%), were studied. The mean age of the patients was 41.2 ± 8.7 years, and 77 of the MS patients (94%) were treated with disease-modifying therapy (DMT). Their median sNfL level was 7.985 (IQR, 5.959-10.9), and their sNfL levels were significantly correlated with their grey matter volume and their age. A standard least squares regression model revealed that approximately 57% of the variation in grey matter volume could be explained by a regression equation using three explanatory variables: sNfL concentration, age, and sex. Moreover, the sNfL level multiplied by disease duration was significantly correlated with the Expanded Disability Status Scale (EDSS) scores and whole and grey matter volumes., Conclusion: Although neuroaxonal injury appeared to be mild in our Japanese MS patients, their sNfL levels significantly reflected grey matter volume. Moreover, when multiplied by the disease duration, sNfL can reflect disability and brain volume., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Summary Ichthyosis bullosa of Siemens is a unique type of congenital ichthyosis characterized by mild hyperkeratosis over the flexural areas and blister formation after mechanical trauma and superficial denuded areas in the hyperkeratotic skin. Recently, mutations in the helix initiation or termination motifs of keratin 2e (KRT2E) have been described in ichthyosis bullosa of Siemens patients. The majority of the mutations reported to date lie in the 2B region. We report a novel amino acid substitution mutation (asparagine→aspartic acid) in codon 192 at the conserved 1A helix initiation site of the rod domain of KRT2E in a Japanese family with ichthyosis bullosa of Siemens. Our data indicate aspartic acid substitution in codon 192 in the 1A helix initiation site is deleterious to keratin filament network integrity and leads to ichthyosis bullosa of Siemens phenotype. [ABSTRACT FROM AUTHOR]

Food may induce inflammation and favor development of metabolic diseases, which have been associated with increased inflammation and potential risk of cognitive impairment. It is customary to know whether food or disease promote inflammation. Our hypothesis was that Okinawan-based Nordic (O-BN) diet leads to decreased circulating concentrations of inflammatory and neural biomarkers. The objectives of this study were to examine the effects of the O-BN diet on inflammatory and neural responses. First, 2 different breakfasts; one standard and another O-BN-based, were given in random order to 19 healthy volunteers. Second, a 12-week O-BN-dietary intervention was performed in type 2 diabetes mellitus (T2DM), where the participants were followed for another 16-weeks, with registration of anthropometry and metabolic parameters. Non-diabetic subjects served as controls at baseline. Plasma was analyzed for cytokines by a 10-plex Luminex assay and neurofilament light (NfL) by an ultrasensitive Single molecule assay. Cytokine levels decreased after a single breakfast intake, independent of diet composition. Cytokine levels were higher in T2DM than in controls. Anthropometric and metabolic parameters were improved by the dietary intervention. In parallel, cytokine levels were lowered, although only significantly for IL-18 (P = .001), with a tendency of significance for IL-12p70 (P = .07). Levels of IL-18 correlated with glucose, HbA1c and lipids, but not with body mass index, insulin or blood pressure. NfL levels increased during the intervention (P = .049). O-BN-based diet does not affect postprandial cytokine levels in health, whereas it renders decreased circulating IL-18 levels along with metabolic biomarkers in T2DM, with no beneficial effect on NfL., (Copyright © 2018 Elsevier Inc. All rights reserved.)