Challenges and Opportunities of Precision Medicine in Sickle Cell Disease: Novel European Approach by GenoMed4All Consortium and ERN-EuroBloodNet

Autor: Anna Collado, Maria Paola Boaro, Sigrid van der Veen, Amira Idrizovic, Bart J. Biemond, David Beneitez Pastor, Ana Ortuño, Elena Cela, Anna Ruiz-Llobet, Pablo Bartolucci, Marianne de Montalembert, Gastone Castellani, Riccardo Biondi, Renzo Manara, Tiziana Sanavia, Piero Fariselli, Petros Kountouris, Marina Kleanthous, Federico Alvarez, Santiago Zazo, Raffaella Colombatti, Eduard J. van Beers, María del Mar Mañú-Pereira

Publikováno v: HemaSphere, Vol 7, Iss 3, p e844 (2023)

Externí odkaz: https://doaj.org/article/530e1091e12141999d0341769ca491eb

The variable manifestations of disease in pyruvate kinase deficiency and their management

Autor: Hanny Al-Samkari, María del Mar Mañú Pereira, Kevin H.M. Kuo, Paola Bianchi, Andreas Glenthøj, Wilma Barcellini, Bertil Glader, Eduard J. van Beers, Rachael F. Grace, Richard van Wijk

Publikováno v: Haematologica
Al-Samkari, H, Van Beers, E J, Kuo, K H M, Barcellini, W, Bianchi, P, Glenthøj, A, Del Mar Mañú Pereira, M, Van Wijk, R, Glader, B & Grace, R F 2020, ' The variable manifestations of disease in pyruvate kinase deficiency and their management ', Haematologica, vol. 105, no. 9, pp. 2229-2239 . https://doi.org/10.3324/haematol.2019.240846

Pyruvate kinase deficiency (PKD) is the most common cause of chronic hereditary non-spherocytic hemolytic anemia and results in a broad spectrum of disease. The diagnosis of PKD requires a high index of suspicion and judicious use of laboratory tests

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10c30fe8c4e8427e976e953f294a1a21
https://pubmed.ncbi.nlm.nih.gov/33054048

ERN-EuroBloodNet European Registry of Patients Affected by Red Blood Cell Disorders and COVID-19

Autor: Teresa Ferreira Faria, Eduardo J. Bardón-Cancho, Pablo Velasco, Ioannis Lafiatis, Fleur Samantha Benghiat, Saveria Campisi, Ersi Voskaridou, Sabrina Bagnato, Michael D. Diamantidis, Achille Iolascon, Marie-Agnès Azerad, Beatriz Ponce-Salas, María del Mar Mañú Pereira, Andrea Piolatto, Christopher J. Saunders, Anna Spasiano, Polyxeni Delaporta, Pagona Flevari, Rosamaria Rosso, Mariane de Montalembert, Eftichia Stiakaki, David Beneitez-Pastor, Bart J. Biemond, Simona Raso, Anna Ruiz-Llobet, Erfan Nur, Ali T. Taher, Joachim B. Kunz, Raffaella Colombatti, Mikael Lorite, Paula Gonzalez Urdiales, An Van Damme, Noémi B. A. Roy, Andreas Glenthøj, Jean-Louis H. Kerkhoffs, Tatiana Besse-Hammer, Elisa Bertoni, Alexis Rodriguez, Alessia Pepe, Laurence Dedeken, Maria Elena Guerzoni, Veerle Labarque, Tommaso Casini, María Argüello Marina, Alessandra Quota, Ann Van de Velde, Filomena Longo, Roberta Russo, Maria Jose Teles, Soteroula Christou

Publikováno v: Blood

PV, NR and MMP contributed equally Introduction Patients with red blood cell disorders (RBCD), chronic life threating multisystemic disorders in their severe forms, are likely to be at increased risk of complications from SARS-Cov-2 (Covid-19), but e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab9ff86ea27012d50014bbc13e59a380
http://europepmc.org/articles/PMC8701690

Pathophysiology of Anemia in HIV-Infected Children Exposed to Malaria

Autor: John J. Aponte, Llorenç Quintó, Tacilta Nhampossa, Montserrat Renom, María Rupérez, Pedro L. Alonso, Eusebio Macete, Ariel H. Achtman, Louis Schofield, Ruth Aguilar, Cinta Moraleda, María Del Mar Mañú Pereira, Clara Menéndez, Augusto Nhabomba

Publikováno v: Am J Trop Med Hyg

Anemia is a common condition in HIV-infected children; however, its pathophysiology and the contribution of frequent causes of anemia such as iron deficiency (ID) and malaria are poorly understood. We carried out an ancillary study on the effect of H

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6338cfdc842800720bfdaf4413424fb
https://pubmed.ncbi.nlm.nih.gov/33534758

Anemias raras y fallos medulares hereditarios

Autor: Juan P. Trujillo, Julián Sevilla, Jordi Surrallés, Joan Lluis Vives Corrons, María del Mar Mañú Pereira

Publikováno v: Arbor; Vol. 194 No. 789 (2018); a463
Arbor; Vol. 194 Núm. 789 (2018); a463
Arbor
Consejo Superior de Investigaciones Científicas (CSIC)
Arbor: Ciencia, Pensamiento y Cultura, Vol 194, Iss 789, Pp a463-a463 (2018)

Rare anemias and inherited bone marrow failure syndromes are characterized, respectively, by decreased concentrations of hemoglobin or defects in the production of hematopoietic cells leading to single to multiple lineage cytopenias. They are rare an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1611bff515b019eb61c78a8a8b82dbe7
https://arbor.revistas.csic.es/index.php/arbor/article/view/2276