Application of sebomics for the analysis of residual skin surface components to detect potential biomarkers of type-1 diabetes mellitus

This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. Te images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.Metabolic imbalance in chronic diseases such as type-1 diabetes may lead to detectable perturbations in the molecular composition of residual skin surface components (RSSC). This study compared the accumulation rate and the composition of RSSC in type-1 diabetic patients with those in matched controls in order to identify potential biomarkers of the disease. Samples of RSSC were collected from the foreheads of type-1 diabetic (n = 55) and non-diabetic (n = 58) volunteers. Samples were subsequently analysed to identify individual components (sebomic analysis). There was no significant difference in the rate of accumulation of RSSC between type-1 diabetics and controls. In terms of molecular composition, 171 RSSC components were common to both groups, 27 were more common in non-diabetics and 18 were more common in type-1 diabetic patients. Statistically significant (P < 0.05) differences between diabetic and non-diabetic volunteers were observed in the recovered amounts of one diacylglyceride (m/z 594), six triacylglycerides (m/z 726-860) and six free fatty acids (m/z 271-345). These findings indicate that sebomic analysis can identify differences in the molecular composition of RSSC components between type-1 diabetic and non-diabetic individuals. Further work is required to determine the practical utility and identity of these potential biomarkers.Peer reviewedFinal Published versio

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Abstract: Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis of 3.5 years), in whom no Mendelian disorders were clinically suspected. In five patients we detect a primary immunodeficiency or enteropathy, with clinical consequences (XIAP, CYBA, SH2D1A, PCSK1). We also present a case study of a VEO-IBD patient with a mosaic de novo, pathogenic allele in CYBB. The mutation is present in ~70% of phagocytes and sufficient to result in defective bacterial handling but not life-threatening infections. Finally, we show that VEO-IBD patients have, on average, higher IBD polygenic risk scores than population controls (99 patients and 18,780 controls; P < 4 × 10−10), and replicate this finding in an independent cohort of VEO-IBD cases and controls (117 patients and 2,603 controls; P < 5 × 10−10). This discovery indicates that a polygenic component operates in VEO-IBD pathogenesis

Three familial cases of Pasini variant of dominant dystrophic epidermolysis

Epidermolysis bullosa (EB) is the term applied to a group of disorders whose common primary feature is the formation of blisters following trivial trauma. Hereditary EB comprises 3 major classes: simplex, junctional and dystrophic, and includes more than 23 phenotypes. The albopapuloid pasini variant of dominant dystrophic EB is characterized by a distinctive clinical appearance. In this article, we report this disease in three members of a family (father and two sons)

Suppression of face perception during saccadic eye movements

Lack of awareness of a stimulus briefly presented during saccadic eye movement is known as saccadic omission. Studying the reduced visibility of visual stimuli around the time of saccade-known as saccadic suppression-is a key step to investigate saccadic omission. To date, almost all studies have been focused on the reduced visibility of simple stimuli such as flashes and bars. The extension of the results from simple stimuli to more complex objects has been neglected. In two experimental tasks, we measured the subjective and objective awareness of a briefly presented face stimuli during saccadic eye movement. In the first task, we measured the subjective awareness of the visual stimuli and showed that in most of the trials there is no conscious awareness of the faces. In the second task, we measured objective sensitivity in a two-alternative forced choice (2AFC) face detection task, which demonstrated chance-level performance. Here, we provide the first evidence of complete suppression of complex visual stimuli during the saccadic eye movement

Emotion categorization does not depend on explicit face categorization

Face perception and emotion recognition have been extensively studied in the past decade; however, the relation between them is still poorly understood. A traditional view is that successful emotional categorization requires categorization of the stimulus as a 'face', at least at the basic level. Here we tested whether emotional information could still be recognized accurately without explicit categorization of a stimulus as a face. For this purpose we created a stimulus set in which facial stimuli expressing a range of happy-to-fear emotions were morphed into another object category (shoe). Interestingly, participants categorized emotions with great accuracy in stimuli that contained so little face information that they were explicitly categorized as shoes. Hence, our results show that accurate emotion categorization can take place in stimuli that contain surprisingly little face information. This finding raises interesting questions about the extent to which processes leading to emotion recognition and categorical face perception might be separable