CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia

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Abstract

Congenital Dyserythropoietic Anemia (CDA) is a heterogeneous group of hematological disorders characterized by chronic hyporegenerative anemia and distinct morphological abnormalities of erythroid precursors in the bone marrow. In many cases, a final diagnosis is not achieved due to different levels of awareness for the diagnosis of CDAs and lack of use of advanced diagnostic procedures. Researchers have identified five major types of CDA: types I, II, III, IV, and X-linked dyserythropoietic anemia and thrombocytopenia (XLDAT). Proper management in CDA is still unsatisfactory, as the different subtypes of CDA have different genetic causes and different but overlapping patterns of signs and symptoms. For this reason, we developed a new telemedicine tool that will help doctors to achieve a faster diagnostic for this disease. Using open access code, we have created a responsive webpage named CoDysAn ( Congenital Dyserythropoietic Anemia) that includes practical information for CDA awareness and a step-by-step diagnostic tool based on a CDA algorithm. The site is currently available in four languages (Catalan, Spanish, Italian, and English). This telemedicine webpage is available at http://www.codysan.eu.

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Personalized Telehealth in the Future: A Global Research Agenda

Birthe Dinesen, Brandie Nonnecke, David Lindeman … (2016)

As telehealth plays an even greater role in global health care delivery, it will be increasingly important to develop a strong evidence base of successful, innovative telehealth solutions that can lead to scalable and sustainable telehealth programs. This paper has two aims: (1) to describe the challenges of promoting telehealth implementation to advance adoption and (2) to present a global research agenda for personalized telehealth within chronic disease management. Using evidence from the United States and the European Union, this paper provides a global overview of the current state of telehealth services and benefits, presents fundamental principles that must be addressed to advance the status quo, and provides a framework for current and future research initiatives within telehealth for personalized care, treatment, and prevention. A broad, multinational research agenda can provide a uniform framework for identifying and rapidly replicating best practices, while concurrently fostering global collaboration in the development and rigorous testing of new and emerging telehealth technologies. In this paper, the members of the Transatlantic Telehealth Research Network offer a 12-point research agenda for future telehealth applications within chronic disease management.

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Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

Andreia Veríssimo, Achille Iolascon, Katja Heinrich … (2009)

Congenital dyserythropoietic anemias (CDAs) are phenotypically and genotypically heterogeneous diseases. CDA type II (CDAII) is the most frequent CDA. It is characterized by ineffective erythropoiesis and by the presence of bi- and multinucleated erythroblasts in bone marrow, with nuclei of equal size and DNA content, suggesting a cytokinesis disturbance. Other features of the peripheral red blood cells are protein and lipid dysglycosylation and endoplasmic reticulum double-membrane remnants. Development of other hematopoietic lineages is normal. Individuals with CDAII show progressive splenomegaly, gallstones and iron overload potentially with liver cirrhosis or cardiac failure. Here we show that the gene encoding the secretory COPII component SEC23B is mutated in CDAII. Short hairpin RNA (shRNA)-mediated suppression of SEC23B expression recapitulates the cytokinesis defect. Knockdown of zebrafish sec23b also leads to aberrant erythrocyte development. Our results provide in vivo evidence for SEC23B selectivity in erythroid differentiation and show that SEC23A and SEC23B, although highly related paralogous secretory COPII components, are nonredundant in erythrocyte maturation.

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Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.

S Orkin, Peter S. White, Donald K. Nichols … (2000)

Haematopoietic development is regulated by nuclear protein complexes that coordinate lineage-specific patterns of gene expression. Targeted mutagenesis in embryonic stem cells and mice has revealed roles for the X-linked gene Gata1 in erythrocyte and megakaryocyte differentiation. GATA-1 is the founding member of a family of DNA-binding proteins that recognize the motif WGATAR through a conserved multifunctional domain consisting of two C4-type zinc fingers. Here we describe a family with X-linked dyserythropoietic anaemia and thrombocytopenia due to a substitution of methionine for valine at amino acid 205 of GATA-1. This highly conserved valine is necessary for interaction of the amino-terminal zinc finger of GATA-1 with its essential cofactor, FOG-1 (for friend of GATA-1; refs 9-12). We show that the V205M mutation abrogates the interaction between Gata-1 and Fog-1, inhibiting the ability of Gata-1 to rescue erythroid differentiation in an erythroid cell line deficient for Gata-1 (G1E). Our findings underscore the importance of FOG-1:Gata-1 associations in both megakaryocyte and erythroid development, and suggest that other X-linked anaemias or thrombocytopenias may be caused by defects in GATA1.

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Author and article information

Contributors

Cristian Tornador: URI : http://loop.frontiersin.org/people/712144/overview

Edgar Sánchez-Prados: URI : http://loop.frontiersin.org/people/792408/overview

Beatriz Cadenas: URI : http://loop.frontiersin.org/people/702505/overview

Roberta Russo: URI : http://loop.frontiersin.org/people/645553/overview

Veronica Venturi: URI : http://loop.frontiersin.org/people/694259/overview

Immacolata Andolfo: URI : http://loop.frontiersin.org/people/645142/overview

Achille Iolascon: URI : http://loop.frontiersin.org/people/40050/overview

Mayka Sánchez: URI : http://loop.frontiersin.org/people/788793/overview

Journal

Journal ID (nlm-ta): Front Physiol

Journal ID (iso-abbrev): Front Physiol

Journal ID (publisher-id): Front. Physiol.

Title: Frontiers in Physiology

Publisher: Frontiers Media S.A.

ISSN (Electronic): 1664-042X

Publication date (Electronic): 13 September 2019

Publication date Collection: 2019

Volume: 10

Electronic Location Identifier: 1063

Affiliations

[1] ¹BloodGenetics S.L. , Barcelona, Spain

[2] ²Teresa Moreto Foundation , Barcelona, Spain

[3] ³Bioinformatics for Health Sciences Master Programme, Universitat Pompeu Fabra , Barcelona, Spain

[4] ⁴Whole Genix SL. , Barcelona, Spain

[5] ⁵Universitat de Vic-Universitat Central de Catalunya , Vic, Spain

[6] ⁶Iron Metabolism: Regulation and Diseases Group, Josep Carreras Leukaemia Research Institute, Campus Can Ruti , Barcelona, Spain

[7] ⁷Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II , Naples, Italy

[8] ⁸CEINGE–Biotecnologie Avanzate , Naples, Italy

[9] ⁹Iron Metabolism: Regulation and Diseases Group, Department of Basic Sciences, Faculty of Medicine and Health Sciences, Universitat Internacional de Catalunya , Barcelona, Spain

[10] ¹⁰Haematology Service, Hospital Germans Trias i Pujol University Hospital, Oncology Catalan Institute , Barcelona, Spain

Author notes

Edited by: Richard Van Wijk, Utrecht University, Netherlands

Reviewed by: Anna Rita Migliaccio, Icahn School of Medicine at Mount Sinai, United States; Pedro Cabrales, University of California, San Diego, United States

*Correspondence: Mayka Sánchez msanchezfe@ 123456uic.es

This article was submitted to Red Blood Cell Physiology, a section of the journal Frontiers in Physiology

Article

DOI: 10.3389/fphys.2019.01063

PMC ID: 6753183

SO-VID: fee97180-f26c-4476-9b0e-158ca32b50f0

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This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

History

Date received : 28 March 2019

Date accepted : 02 August 2019

Page count

Figures: 1, Tables: 1, Equations: 0, References: 30, Pages: 6, Words: 4002

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CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia

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Most cited references 27

Personalized Telehealth in the Future: A Global Research Agenda

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.

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