Physiological responses of reared sea bream (Sparus aurata Linnaeus, 1758) to an Amyloodinium ocellatum outbreak

Amyloodiniosis represents a major bottleneck for semi-intensive aquaculture production in Southern Europe, causing extremely high mortalities. Amyloodinium ocellatum is a parasitic dinoflagellate that can infest almost all fish, crustacean and bivalves that live within its ecological range. Fish mortalities are usually attributed to anoxia, associated with serious gill hyperplasia, inflammation, haemorrhage and necrosis in heavy infestations; or with osmoregulatory impairment and secondary microbial infections due to severe epithelial damage in mild infestation. However, physiological information about the host responses to A.ocellatum infestation is scarce. In this work, we analysed the proteome of gilthead sea bream (Sparus aurata) plasma and relate it with haematological and immunological indicators, in order to enlighten the different physiological responses when exposed to an A.ocellatum outbreak. Using 2D-DIGE, immunological and haematological analysis and in response to the A.ocellatum contamination we have identified several proteins associated with acute-phase response, inflammation, lipid transport, homoeostasis, and osmoregulation, wound healing, neoplasia and iron transport. Overall, this preliminary study revealed that amyloodiniosis affects some fish functional pathways as revealed by the changes in the plasma proteome of S. aurata, and that the innate immunological system is not activated in the presence of the parasite.DIVERSIAQUA, Portugal [MAR2020]Fundacao para a Ciencia e Tecnologia [SFRH/BD/118601/2016]info:eu-repo/semantics/publishedVersio

mRNA-based skin identification for forensic applications

Although the identification of human skin cells is of important relevance in many forensic cases, there is currently no reliable method available. Here, we present a highly specific and sensitive messenger RNA (mRNA) approach for skin identification, meeting the key requirements in forensic analyses. We examined 11 candidate genes with skin-specific expression, as ascertained from expression databases and the literature, as well as five candidate reference genes ascertained from previous studies, in skin samples and in other forensically relevant tissues. We identified mRNA transcripts from three genes CDSN, LOR and KRT9, showing strong over-expression in skin samples relative to samples from forensic body fluids, making them suitable markers for skin identification. Out of the candidate reference genes tested, only ACTB showed similarly high expression in skin and body-fluid samples, providing a suitable reference marker for quantitative real-time PCR (qPCR) analysis of skin. Analyses of palmar and thumbprint skin samples indicate that our qPCR approach for the three skin-targeted mRNA markers, as well as the reference mRNA marker ACTB, is highly sensitive, allowing successful detection of minute amounts of skin material including full, half and quarter thumbprints, albeit with decreased success in decreasing print material. Furthermore, thumbprints stored for 6.5 months provided similar results relative to freshly analysed samples implying reasonable time-wise stability of the three skin-targeted mRNAs as well as the ACTB reference mRNA. Our study represents the first attempt towards reliable mRNA-based skin identification in forensic applications with particular relevance for future trace/touched object analyses in forensic case work. Although the approach for skin identification introduced here can be informative when applied on its own, we recommend for increased reliability the integration of (one or more of) the skin-targeted mRNA markers presented here into multiplex assays additionally including mRNA markers targeting alternative cell types expected in forensic samples

Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients

Background Hereditary palmoplantar keratodermas (PPK) represent a heterogeneous group of rare skin disorders with epidermal hyperkeratosis of the palms and soles, with occasional additional manifestations in other tissues. Mutations in at least 69 genes have been implicated in PPK, but further novel candidate genes and mutations are still to be found. Objectives To identify mutations underlying PPK in a cohort of 64 patients. Methods DNA of 48 patients was analysed on a custom-designed in-house panel for 35 PPK genes, and 16 patients were investigated by a diagnostic genetic laboratory either by whole-exome sequencing, gene panels or targeted single-gene sequencing. Results Of the 64 PPK patients, 32 had diffuse (50%), 19 focal (30%) and 13 punctate (20%) PPK. None had striate PPK. Pathogenic mutations in altogether five genes were identified in 31 of 64 (48%) patients, the majority (22/31) with diffuse PPK. Of them, 11 had a mutation in AQP5, five in SERPINB7, four in KRT9 and two in SLURP1. AAGAB mutations were found in nine punctate PPK patients. New mutations were identified in KRT9 and AAGAB. No pathogenic mutations were detected in focal PPK. Variants of uncertain significance (VUS) in PPK-associated and other genes were observed in 21 patients that might explain their PPK. No suggestive pathogenic variants were found for 12 patients. Conclusions Diffuse PPK was the most common (50%) and striate PPK was not observed. We identified pathogenic mutations in 48% of our PPK patients, mainly in five genes: AQP5, AAGAB, KRT9, SERPINB7 and SLURP1.Peer reviewe

Pathophysiology of pachyonychia congenita‐associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/154394/1/bjd18033.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/154394/2/bjd18033_am.pd

Dentate Gyrus

This report contains a gene expression summary of the dentate gyrus (DG), derived from the Allen Brain Atlas (ABA) _in situ_ hybridization mouse data set. The structure's location and morphological characteristics in the mouse brain are described using the Nissl data found in the Allen Reference Atlas. Using an established algorithm, the expression values of the dentate gyrus were compared to the values of the macro/parent-structure, in this case the hippocampal region, for the purpose of extracting regionally selective gene expression data. The genes with the highest ranking selectivity ratios were manually curated and verified. 50 genes were then selected and compiled for expression characterization. The experimental data for each gene may be accessed via the links provided; additional data in the sagittal plane may also be accessed using the ABA. Correlations between gene expression in the dentate gyrus and the rest of the brain, across all genes in the coronal dataset (~4300 genes), were derived computationally. A gene ontology table (derived from DAVID Bioinformatics Resources 2007) is also included, highlighting possible functions of the 50 genes selected for this report

A DiffServ-MPLS solution offering real-time end-to-end guarantees

In this paper, we are interested in providing deterministic end-to-end guarantees to real-time applications in the Internet. We focus on two QoS (Quality of Service) parameters: the end-to-end response time and the end-to-end jitter, parameters of the utmost importance for such applications. We propose a solution, very simple to deploy, based on a combination of DiffServ and . The Expedited Forwarding (EF) class of the Differentiated Services (DiffServ) model is well adapted for real-time applications as it is designed for flows with end-to-end real-time constraints. Moreover MultiProtocol Label Switching (MPLS), when applied in a DiffServ architecture, is an efficient solution for providing QoS routing. The results of our worst case analysis enable to derive a simple admission control for the class. Resources provisioned for the EF class but not used by this class are available for the other classes

A Phenomenological Theory of The Pseudogap State

An ansatz is proposed for the coherent part of the single particle Green's function in a doped resonant valence bond (RVB) state by, analogy with the form derived by Konik and coworkers for a doped spin liquid formed by an array of 2-leg Hubbard ladders near half-filling. The parameters of the RVB state are taken from the renormalized mean field theory of Zhang and coworkers for underdoped cuprates. The ansatz shows good agreement with recent angle resolved photoemission (ARPES) on underdoped cuprates and resolves an apparent disagreement with the Luttinger Sum Rule. The transition in the normal state from a doped RVB spin liquid to a standard Landau Fermi liquid, that occurs in the renormalized mean field theory, appears as a quantum critical point characterized by a change in the analytic form of the Green's function. A d-wave superconducting dome surrounding this quantum critical point is introduced phenomenologically. Results are also presented for the Drude weight and tunneling density of states as functions of the hole density.Comment: 11 pages, 14 figure