Incontinentia Pigmenti

Incontinentia pigment! (Bloch-Sulzberger syndrome) is a rare neuroectodermal dysptasia. It is an X-linked dominant disorder caused by mutations in the IKBKG/NEMO gene on Xq28. Approximately 80% of patients have a deletion of exons 4 to 10. Incontinentia pigmenti has an estimated incidence of 0.7 cases per 100,000 births. In hemizygous males, it is usually lethal, while in females, it has a wide spectrum of clinical manifestations. Incontinentia pigmenti is a muttisystemic disease that invariably features skin changes. These changes are the main diagnostic criteria and they evolve in 4 stages, in association with other abnormalities affecting the central nervous system, eyes, teeth, mammary glands, hair, nails, skin, and other parts of the body. The aim of this brief review is to highlight the clinical features of this genodermatosis and underline the importance of case-by-case interdisciplinary management, including genetic counseling. (C) 2018 AEDV. Published by Elsevier Espana, S.L.U. All rights reserved

Introduction

The goal of this volume is precisely to explore the intersections between Cultural Studies and Migration Studies, opening more cracks and proposing new ideas, themes, and approaches that speak to the varied field of migration studies, starting from the approach of cultural studies and post-colonial studies. By doing so, we will contribute to opening up visibilities and trajectories invisible in other discourses and narratives. The contributions collected here assume, in fact, different points of view not only concerning the disciplines involved and the methodologies adopted but also the addressed spatial and temporal contexts that have much to offer

Molecular characterisation, evolution and expression analysis of g-type lysozymes in Ciona intestinalis

Lysozyme is an important defense molecule of the innate immune system. Known for its bactericidal properties, lysozyme catalyzes the hydrolysis of b-(1,4)-glycosidic bonds between the N-acetyl glucosamine and N-acetyl muramic acid in the peptidoglycan layer of bacterial cell walls. In this study, the complete coding sequence of four g-type lysozymes were identified in Ciona intestinalis. Phylogenetic analysis and modelling supported the hypothesis of a close relationship with the vertebrate g-type lysozymes suggesting that the C. intestinalis g-type lysozyme genes (CiLys-g1, Cilys-g2, CiLys-g3, CiLys-g4) share a common ancestor in the chordate lineage. Protein motif searches indicated that C. intestinalis gtype lysozymes contain a GEWL domain with a GXXQ signature, typical of goose lysozymes. Quantitative Real-Time PCR analysis results showed that transcripts are expressed in various tissues from C. intestinalis. In order to determine the involvement of C. intestinalis g-type lysozymes in immunity, their expression was analyzed in the pharynx, showing that transcripts were significantly up-regulated in response to a challenge with lipopolysaccharide (LPS). These data support the view that CiLys g-type are molecules with potential for immune defense system against bacterial infection

VP65.06: Reproductive outcome after hysteroscopic metroplasty for septate and t‐shaped uterus

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Silver-Russell syndrome. Clinical and etiopathological aspects of a model genomic imprinting entity

Silver-Russell syndrome is characterized by asymmetrical intrauterine growth retardation, with normal head circumference and small, pointed chin, which results in a triangular face. It can also include body asymmetry, among other characteristics. Its global incidence is estimated at 1 in 30 000-100 000 births, even though this figure may be underestimated. In approximately 60 % of cases, a molecular cause can be identified, and the main one is hypomethylation of the paternal allele at the imprinting control region 1 located at 11p15.5-p15.4. It is necessary to make the diagnosis of this entity, exclude differential diagnoses, and know (epi)genotype-phenotype correlations in order to ensure an adequate follow-up, provide available therapeutic options, and offer a timely family genetic counseling. The objective of this article is to describe the current status of the Silver-Russell syndrome, a model of genomic imprinting disorder

Transforming growth factor β (CiTGF-β) gene expression is induced in the inflammatory reaction of Ciona intestinalis

Transforming growth factor (TGF-β) is a well-known component of a regulatory cytokines superfamily that has pleiotropic functions in a broad range of cell types and is involved, in vertebrates, in numerous physiological and pathological processes. In the current study, we report on Ciona intestinalis molecular characterisation and expression of a transforming growth factor β homologue (CiTGF-β). The gene organisation, phylogenetic tree and modelling supported the close relationship with the mammalian TGF suggesting that the C. intestinalis TGF-β gene shares a common ancestor in the chordate lineages. Functionally, real-time PCR analysis showed that CiTGF-β was transcriptionally upregulated in the inflammatory process induced by LPS inoculation, suggesting that is involved in the first phase and significant in the secondary phase of the inflammatory response in which cell differentiation occurs. In situ hybridisation assays revealed that the genes transcription was upregulated in the pharynx, the main organ of the ascidian immune system, and expressed by cluster of hemocytes inside the pharynx vessels. These data supported the view that CiTGF-β is a potential molecule in immune defence systems against bacterial infection

Are immune responses gender-related in Carabus lefebvrei (Coleoptera: Carabidae)?

The \u201clive hard, die young\u201d theory predicts the evolution of gender differences in immunocompetence, with males having a weaker immune system than females. To test this hypothesis in Carabus lefebvrei, total and basal phenoloxidase (PO) activities and lysozyme-like enzyme activity were compared among males and females of different reproductive status. The sexual dimorphism occurred only in reproductively active adults and for total and basal PO levels, while no significant differences were recorded between sexes in virgin adults. Differences were not recorded for lytic activity between sexes. Basal PO and lytic activities decreased in both males and females after mating, while the total PO value increased in males and decreased in females. Thus, resources seem to be invested to increase the humoral response in pre-reproductive phase forming a barrier against pathogens and preserving the fecundity and longevity of both sexes. Males preserve their survivorship in reproductive phase by increasing enzymatic levels in hemolymph to avoid fitness reduction due to the increased exposure to pathogen as result of mating. Females shift resources from PO and lytic activity to other physiological systems involved in reproduction in order to maximize their fitness