Zobrazeno 1 - 10
of 2 067
pro vyhledávání: '"Diamond–Blackfan anemia"'
Autor:
Panayiota L. Papasavva, Konstantinos Kaouranis, Stefania Byrou, Constantina G. Constantinou, Iacovou Efrosini, Marina Kleanthous, Carsten W. Lederer, Thessalia Papasavva
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Diamond-Blackfan anemia syndrome (DBAS) is a rare inherited bone marrow failure (BMF) syndrome characterized by erythroid aplasia, congenital malformations, and cancer predisposition. With its genetic heterogeneity, variable penetrance and expressivi
Externí odkaz:
https://doaj.org/article/e1847ccec28649a092a2857cfeb4783f
Publikováno v:
Pediatric Hematology Oncology Journal, Vol 8, Iss 3, Pp 182-186 (2023)
Objective: To analyze the clinical profile and available treatment modalities in pure red cell aplasia (PRCA). Methodology: Retrospective analysis of children diagnosed with PRCA from 2014 to 2019. Clinical profile, investigations, and treatment deta
Externí odkaz:
https://doaj.org/article/cc115ba1250a4adaaf7cca7811f19331
Publikováno v:
Pediatric Hematology Oncology Journal, Vol 8, Iss 2, Pp 136-139 (2023)
Background: Transient erythroblastopenia of childhood (TEC) is a rare and benign condition characterized by moderate to severe normocytic anemia with low reticulocytes and a spontaneous recovery. Case report: We present a 5-year-old boy with celiac d
Externí odkaz:
https://doaj.org/article/ecf581819f7d43649e06d90ee4f6fabd
Autor:
Mansi Kala, Kunal Das, Avriti Baveja, Manish Raturi, Meghali Dhebane, Sohaib Ahmad, Mansi Mehrotra
Publikováno v:
Journal of Laboratory Physicians, Vol 15, Iss 02, Pp 316-320 (2023)
Pure red cell aplasia (PRCA) is characterized by severe anemia with reticulocytopenia and bone marrow erythroblastopenia. The early erythroblasts are markedly decreased; however, in rare instances, they may be normal or raised in number. There are va
Externí odkaz:
https://doaj.org/article/119885fb7acd424e8ef41da0b9388a35
Autor:
Paula Leal-Anaya, Tamara N. Kimball, Ana Lucia Yanez-Felix, Moisés Ó. Fiesco-Roa, Benilde García-de Teresa, Angélica Monsiváis, Rocío Juárez-Velázquez, Esther Lieberman, Camilo Villarroel, Emiy Yokoyama, Liliana Fernández-Hernández, Anet Rivera-Osorio, David Sosa, Maria Magdalena Ortiz Sandoval, Norma López-Santiago, Sara Frías, Victoria del Castillo, Alfredo Rodríguez
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Introduction: The inherited bone marrow failure syndromes (IBMFSs) are a group of rare disorders characterized by bone marrow failure (BMF), physical abnormalities, and an increased risk of neoplasia. The National Institute of Pediatrics (INP) is a m
Externí odkaz:
https://doaj.org/article/c847b296c71c481ba9d3a93f5e694b3a
Publikováno v:
Cells, Vol 13, Iss 11, p 920 (2024)
Diamond–Blackfan anemia (DBA) is a rare genetic disorder affecting the bone marrow’s ability to produce red blood cells, leading to severe anemia and various physical abnormalities. Approximately 75% of DBA cases involve heterozygous mutations in
Externí odkaz:
https://doaj.org/article/541d2e4fe8614028b3c619ee84450368
Publikováno v:
Frontiers in Oncology, Vol 13 (2023)
Diamond-Blackfan anemia (DBA) is one of the most common inherited causes of bone marrow failure in children. DBA typically presents with isolated erythroid hypoplasia and anemia in infants. Congenital anomalies are seen in 50% of the patients. Over t
Externí odkaz:
https://doaj.org/article/2a5a14e542f246d5bfe1c691f2f52e1a
Akademický článek
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Autor:
Iordanis Pelagiadis, Ioannis Kyriakidis, Nikolaos Katzilakis, Chrysoula Kosmeri, Danai Veltra, Christalena Sofocleous, Stavros Glentis, Antonis Kattamis, Alexandros Makis, Eftichia Stiakaki
Publikováno v:
Children, Vol 10, Iss 11, p 1812 (2023)
Diamond–Blackfan anemia (DBA) is a ribosomopathy characterized by bone marrow erythroid hypoplasia, which typically presents with severe anemia within the first months of life. DBA is typically attributed to a heterozygous mutation in a ribosomal p
Externí odkaz:
https://doaj.org/article/db3583f658f945b19f92dd96f8c6803c
Publikováno v:
Medicina, Vol 59, Iss 11, p 1953 (2023)
Diamond–Blackfan anemia (DBA) is a congenital bone marrow failure syndrome associated with malformations. DBA is related to defective ribosome biogenesis, which impairs erythropoiesis, causing hyporegenerative macrocytic anemia. The disease has an
Externí odkaz:
https://doaj.org/article/7f0bb27ae6384dbdb8e7649cd165349d