keyword
https://read.qxmd.com/read/38506013/-not-available
#1
JOURNAL ARTICLE
Maria Winther Gunnes, Andreas Benneche, Anne Grete Bechensteen
BACKGROUND: Anemia in children is common and finding the underlying cause is often uncomplicated. However, in some cases, the underlying diagnosis is rare and difficult to diagnose. CASE PRESENTATION: A toddler presented with severe anemia with normal red cell indices and a low reticulocyte count. The remaining hematological parameters were normal, bar a slight thrombocytosis. At this point a diagnosis of transient erythroblastopenia of childhood (TEC) was made...
March 19, 2024: Tidsskrift for Den Norske Lægeforening: Tidsskrift for Praktisk Medicin, Ny Række
https://read.qxmd.com/read/38485153/understanding-complex-disease-related-mechanisms-rational-therapies-for-diamond-blackfan-anaemia
#2
JOURNAL ARTICLE
Jeffrey M Lipton
The rich history surrounding Diamond-Blackfan anaemia (DBA), originally described in 1938 as congenital hypoplastic anaemia2 reflects the evolution of paediatric haematology. In their paper, the authors1 present the results of a clinical trial using the thrombopoietin-mimetic agent eltrombopag to treat red cell failure in DBA. A low response rate belies the importance of this work. Commentary on: Duncan et al. Treatment of refractory/relapsed Diamond-Blackfan anaemia with eltrombopag. Br J Haematol 2024 (Online ahead of print)...
March 14, 2024: British Journal of Haematology
https://read.qxmd.com/read/38450920/establishment-of-a-diamond-blackfan-anemia-like-model-in-zebrafish
#3
JOURNAL ARTICLE
Yiming Ling, Jiaye Wu, Yushi Liu, Panpan Meng, Ying Sun, Dejian Zhao, Qing Lin
BACKGROUND: Anemia is defined as a lack of erythrocytes, low hemoglobin levels, or abnormal erythrocyte morphology. Diamond-Blackfan anemia (DBA) is a rare and severe congenital hypoplastic anemia that occurs due to the dominant inheritance of a ribosomal protein gene mutation. Even rarer is a case described as Diamond-Blackfan anemia like (DBAL), which occurs due to a loss-of-function EPO mutation recessive inheritance. The effective cures for DBAL are bone marrow transfusion and treatment with erythropoiesis-stimulating agents (ESAs)...
March 7, 2024: Developmental Dynamics
https://read.qxmd.com/read/38414864/disruption-of-mitochondrial-energy-metabolism-is-a-putative-pathogenesis-of-diamond-blackfan-anemia
#4
JOURNAL ARTICLE
Rudan Xiao, Lijuan Zhang, Zijuan Xin, Junwei Zhu, Qian Zhang, Guangmin Zheng, Siyun Chu, Jing Wu, Lu Zhang, Yang Wan, Xiaojuan Chen, Weiping Yuan, Zhaojun Zhang, Xiaofan Zhu, Xiangdong Fang
Energy metabolism in the context of erythropoiesis and related diseases remains largely unexplored. Here, we developed a primary cell model by differentiating hematopoietic stem progenitor cells toward the erythroid lineage and suppressing the mitochondrial oxidative phosphorylation (OXPHOS) pathway. OXPHOS suppression led to differentiation failure of erythroid progenitors and defects in ribosome biogenesis. Ran GTPase-activating protein 1 (RanGAP1) was identified as a target of mitochondrial OXPHOS for ribosomal defects during erythropoiesis...
March 15, 2024: IScience
https://read.qxmd.com/read/38413287/diamond-blackfan-anemia-the-archetype-of-ribosomopathy-how-distinct-is-it-from-the-other-constitutional-ribosomopathies
#5
JOURNAL ARTICLE
L Da Costa, Narla Mohandas, Ludivine David-NGuyen, Jessica Platon, Isabelle Marie, Marie Françoise O'Donohue, Thierry Leblanc, Pierre-Emmanuel Gleizes
Diamond-Blackfan anemia (DBA) was the first ribosomopathy described in humans. DBA is a congenital hypoplastic anemia, characterized by macrocytic aregenerative anemia, manifesting by differentiation blockage between the BFU-e/CFU-e developmental erythroid progenitor stages. In 50 % of the DBA cases, various malformations are noted. Strikingly, for a hematological disease with a relative erythroid tropism, DBA is due to ribosomal haploinsufficiency in 24 different ribosomal protein (RP) genes. A few other genes have been described in DBA-like disorders, but they do not fit into the classical DBA phenotype (Sankaran et al...
February 17, 2024: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/38405817/biallelic-variation-in-the-choline-and-ethanolamine-transporter-flvcr1-underlies-a-pleiotropic-disease-spectrum-from-adult-neurodegeneration-to-severe-developmental-disorders
#6
Daniel G Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C P Leong, Riccardo Sangermano, Sohil G Patankar, Mohamed Abdel-Hamid, Lama AlAbdi, Sylvia Safwat, Kyle P Flannery, Zain Dardas, Jawid M Fatih, Chaya Murali, Varun Kannan, Timothy E Lotze, Isabella Herman, Farah Ammouri, Brianna Rezich, Stephanie Efthymiou, Shahryar Alavi, David Murphy, Zahra Firoozfar, Mahya Ebrahimi Nasab, Amir Bahreini, Majid Ghasemi, Nourelhoda A Haridy, Hamid Reza Goldouzi, Fatemeh Eghbal, Ehsan Ghayoor Karimiani, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Haowei Du, Shalini N Jhangiani, Zeynep Coban-Akdemir, Dana Marafi, Lance Rodan, Sedat Isikay, Jill A Rosenfeld, Subhadra Ramanathan, Michael Staton, Kerby C Oberg, Robin D Clark, Catharina Wenman, Sam Loughlin, Ramy Saad, Tazeen Ashraf, Alison Male, Shereen Tadros, Reza Boostani, Ghada M H Abdel-Salam, Maha Zaki, Ebtesam Abdalla, M Chiara Manzini, Davut Pehlivan, Jennifer E Posey, Richard A Gibbs, Henry Houlden, Fowzan S Alkuraya, Kinga Bujakowska, Reza Maroofian, James R Lupski, Long Nam Nguyen
FLVCR1 encodes Feline leukemia virus subgroup C receptor 1 (FLVCR1), a solute carrier (SLC) transporter within the Major Facilitator Superfamily. FLVCR1 is a widely expressed transmembrane protein with plasma membrane and mitochondrial isoforms implicated in heme, choline, and ethanolamine transport. While Flvcr1 knockout mice die in utero with skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia, rare biallelic pathogenic FLVCR1 variants are linked to childhood or adult-onset neurodegeneration of the retina, spinal cord, and peripheral nervous system...
February 13, 2024: medRxiv
https://read.qxmd.com/read/38277626/normal-erythroid-precursors-in-diamond-blackfan-anemia-a-rare-case-highlighting-challenges-that-remain
#7
JOURNAL ARTICLE
Daniel Prior, Anna Sowa, Farzana Pashankar
Diamond-Blackfan anemia (DBA) is a rare, inherited bone marrow failure syndrome that is both genetically and clinically heterogeneous. The diagnosis of DBA has changed over time, with advancements in our understanding of the varied genetic etiologies and phenotypic manifestations of the disease. We present a rare case of a patient who never developed erythroid precursor hypoplasia, adding to the understanding of atypical manifestations of DBA. Our patient had spontaneous remission followed by subsequent relapse, both atypical and poorly understood processes in DBA...
January 25, 2024: Journal of Pediatric Hematology/oncology
https://read.qxmd.com/read/38194662/diagnosing-transient-erythroblastopenia-of-childhood-a-review-for-pediatricians
#8
REVIEW
Miguel E Mejía Sang, Magda Mendez
Transient erythroblastopenia of childhood is a rare, benign, self-limited condition seen in infants and young children. Laboratory studies will show moderate or severe normochromic normocytic anemia accompanied by absent or low reticulocytes, neutropenia, and mild thrombocytosis or thrombocytopenia. The etiology is unclear, but it has been associated with clinical or laboratory evidence of a recent viral syndrome. Initial diagnostic studies should be aimed at identifying potential causes of anemia, but a confirmed diagnosis is usually obtained once the hemoglobin level has normalized spontaneously...
January 2024: Pediatric Annals
https://read.qxmd.com/read/38188476/refractory-pure-red-blood-cell-aplasia-secondary-to-major-abo-incompatible-allogeneic-stem-cell-transplantation-successfully-treated-with-daratumumab
#9
Clinton Wu, Pete Manchen, Ariela Edelman, Muhammad Husnain, Emmanuel Katsanis, Deborah Fuchs, Laura Stephens, Sharad Khurana
Pure red cell aplasia (PRCA) is a rare hematologic phenomenon that is usually associated with inherited genetic mutations such as in Diamond-Blackfan anemia. However, due to the emergence of allogenic stem cell transplantation in the treatment of various malignant and non-malignant disorders, the incidence of PRCA has increased. PRCA following hematopoietic stem cell transplant (HSCT) is more commonly seen in the setting of a major ABO-incompatible transplant. Treatment of allo-HSCT induced PRCA can be initially supportive as it takes time for the bone marrow to fully recover...
December 2023: Journal of Hematology (Brossard, Quebec)
https://read.qxmd.com/read/38149846/transient-erythroblastopenia-due-to-a-gata1-variant-in-an-infant-female
#10
JOURNAL ARTICLE
Motoi Yamashita, Takahiro Tomoda, Ami Mizuo, Takeshi Isoda, Makiko Egawa, Masayuki Yoshida, Tsutomu Toki, Ko Kudo, Kiminori Terui, Etsuro Ito, Tomohiro Morio, Masatoshi Takagi
Diamond-Blackfan anemia (DBA) is a congenital anemia with erythroid cell aplasia. Most of the causative genes are ribosomal proteins. GATA1, a hematopoietic master transcription factor required for erythropoiesis, also causes DBA. GATA1 is located on Xp11.23; therefore, DBA develops only in males in an X-linked inheritance pattern. Here, we report a case of transient erythroblastopenia and moderate anemia in a female newborn infant with a de novo GATA1 variant. In this patient, increased methylation of the GATA1 wild-type allele was observed in erythroid cells...
December 27, 2023: Pediatric Blood & Cancer
https://read.qxmd.com/read/38092976/correction-perspectives-of-current-understanding-and-therapeutics-of-diamond-blackfan-anemia
#11
Yang Liu, Stefan Karlsson
No abstract text is available yet for this article.
January 2024: Leukemia
https://read.qxmd.com/read/38066882/posttransplant-complications-in-patients-with-marrow-failure-syndromes-are-we-improving-long-term-outcomes
#12
JOURNAL ARTICLE
Zahra Hudda, Kasiani C Myers
Inherited bone marrow failure syndromes (IBMFS) encompass a group of rare genetic disorders characterized by bone marrow failure, non-hematologic multisystemic comorbidities, disease defining congenital anomalies, and a susceptibility to myelodysplastic syndrome, acute myeloid leukemia, and in some instances solid tumors. The most common IBMFS include Fanconi anemia, Shwachman-Diamond syndrome, Diamond-Blackfan anemia, and telomere biology disorders/ dyskeratosis congenita. Allogeneic hematopoietic stem cell transplant (HCT) is a well-established curative treatment to correct the hematological manifestations but does not halt or reverse the nonhematological complications and may hasten them...
December 8, 2023: Hematology—the Education Program of the American Society of Hematology
https://read.qxmd.com/read/38016422/cytogenetics-in-the-management-of-bone-marrow-failure-syndromes-guidelines-from-the-groupe-francophone-de-cytog%C3%A3-n%C3%A3-tique-h%C3%A3-matologique-gfch
#13
Wendy Cuccuini, Marie-Agnes Collonge-Rame, Nathalie Auger, Nathalie Douet-Guilbert, Lucie Coster, Marina Lafage-Pochitaloff
Bone marrow failure syndromes are rare disorders characterized by bone marrow hypocellularity and resultant peripheral cytopenias. The most frequent form is acquired, so-called aplastic anemia or idiopathic aplastic anemia, an auto-immune disorder frequently associated with paroxysmal nocturnal hemoglobinuria, whereas inherited bone marrow failure syndromes are related to pathogenic germline variants. Among newly identified germline variants, GATA2 deficiency and SAMD9/9L syndromes have a special significance...
October 18, 2023: Current Research in Translational Medicine
https://read.qxmd.com/read/38004002/a-de-novo-frameshift-mutation-in-rpl5-with-classical-phenotype-abnormalities-and-worsening-anemia-diagnosed-in-a-young-adult-a-case-report-and-review-of-the-literature
#14
Moritz Dorenkamp, Naomi Porret, Miriam Diepold, Alicia Rovó
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 autosomal dominant inheritance and is commonly diagnosed in the first year of life, requiring continuous treatment. We present the case of a young woman who, at the age of 21, developed severe symptomatic anemia. Although, due to malformations, a congenital syndrome had been suspected since birth, a confirmation diagnosis was not made until the patient was referred to our center for an evaluation of her anemia...
November 5, 2023: Medicina
https://read.qxmd.com/read/38002903/the-diverse-genomic-landscape-of-diamond-blackfan-anemia-two-novel-variants-and-a-mini-review
#15
REVIEW
Iordanis Pelagiadis, Ioannis Kyriakidis, Nikolaos Katzilakis, Chrysoula Kosmeri, Danai Veltra, Christalena Sofocleous, Stavros Glentis, Antonis Kattamis, Alexandros Makis, Eftichia Stiakaki
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 protein (RP) gene along with a defect in the ribosomal RNA (rRNA) maturation or levels. Besides classic DBA, DBA-like disease has been described with variations in 16 genes (primarily in GATA1 , followed by ADA2 alias CECR1 , HEATR3 , and TSR2 ). To date, more than a thousand variants have been reported in RP genes...
November 15, 2023: Children
https://read.qxmd.com/read/37973818/perspectives-of-current-understanding-and-therapeutics-of-diamond-blackan-anemia
#16
REVIEW
Yang Liu, Stefan Karlsson
Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure disorder characterized by erythroid hypoplasia. It primarily affects infants and is often caused by heterozygous allelic variations in ribosomal protein (RP) genes. Recent studies also indicated that non-RP genes like GATA1, TSR2, are associated with DBA. P53 activation, translational dysfunction, inflammation, imbalanced globin/heme synthesis, and autophagy dysregulation were shown to contribute to disrupted erythropoiesis and impaired red blood cell production...
November 16, 2023: Leukemia
https://read.qxmd.com/read/37897121/probable-digenic-inheritance-of-diamond-blackfan-anemia
#17
Yutaka Furuta, Rory J Tinker, Alican Gulsevin, Serena M Neumann, Rizwan Hamid, Joy D Cogan, Lynette Rives, Qi Liu, Hua-Chang Chen, Karen M Joos, John A Phillips
A 26-year-old female proband with a clinical diagnosis and consistent phenotype of Diamond-Blackfan anemia (DBA, OMIM 105650) without an identified genotype was referred to the Undiagnosed Diseases Network. DBA is classically associated with monoallelic variants that have an autosomal-dominant or -recessive mode of inheritance. Intriguingly, her case was solved by a detection of a digenic interaction between non-allelic RPS19 and RPL27 variants. This was confirmed with a machine learning structural model, co-segregation analysis, and RNA sequencing...
October 27, 2023: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/37834388/p53-in-the-molecular-circuitry-of-bone-marrow-failure-syndromes
#18
REVIEW
Jeanne Rakotopare, Franck Toledo
Mice with a constitutive increase in p53 activity exhibited features of dyskeratosis congenita (DC), a bone marrow failure syndrome (BMFS) caused by defective telomere maintenance. Further studies confirmed, in humans and mice, that germline mutations affecting TP53 or its regulator MDM4 may cause short telomeres and alter hematopoiesis, but also revealed features of Diamond-Blackfan anemia (DBA) or Fanconi anemia (FA), two BMFSs, respectively, caused by defects in ribosomal function or DNA repair. p53 downregulates several genes mutated in DC, either by binding to promoter sequences ( DKC1 ) or indirectly via the DREAM repressor complex ( RTEL1 , DCLRE1B ), and the p53-DREAM pathway represses 22 additional telomere-related genes...
October 6, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/37833059/congenital-anaemia-associated-with-loss-of-function-variants-in-dna-polymerase-epsilon-1
#19
JOURNAL ARTICLE
Ichiro Takeuchi, Kanako Tanase-Nakao, Ayame Ogawa, Tohru Sugawara, Osuke Migita, Makoto Kashima, Touko Yamazaki, Akihiro Iguchi, Yasuhiro Naiki, Toru Uchiyama, Junya Tamaoki, Hiroki Maeda, Hirotaka Shimizu, Toshinao Kawai, Kosuke Taniguchi, Hiromi Hirata, Makoto Kobayashi, Kimikazu Matsumoto, Kiyoshi Naruse, Kenichiro Hata, Hidenori Akutsu, Takashi Kato, Satoshi Narumi, Katsuhiro Arai, Akira Ishiguro
DNA polymerase epsilon (Pol ε), a component of the core replisome, is involved in DNA replication. Although genetic defects of Pol ε have been reported to cause immunodeficiency syndromes, its role in haematopoiesis remains unknown. Here, we identified compound heterozygous variants (p.[Asp1131fs];[Thr1891del]) in POLE , encoding Pol ε catalytic subunit A (POLE1), in siblings with a syndromic form of severe congenital transfusion-dependent anaemia. In contrast to Diamond-Blackfan anaemia, marked reticulocytopenia or marked erythroid hypoplasia was not found...
October 13, 2023: Journal of Medical Genetics
https://read.qxmd.com/read/37752993/hematopoietic-cell-transplantation-and-gene-therapy-for-diamond-blackfan-anemia-state-of-the-art-and-science
#20
REVIEW
Senthil Velan Bhoopalan, Shruthi Suryaprakash, Akshay Sharma, Marcin W Wlodarski
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 time, many patients experience panhematopoietic defects resulting in immunodeficiency and multilineage hematopoietic cytopenias. Additionally, DBA is associated with increased risk of myelodysplastic syndrome, acute myeloid leukemia and solid organ cancers. As a prototypical ribosomopathy, DBA is caused by heterozygous loss-of-function mutations or deletions in over 20 ribosomal protein genes, with RPS19 being involved in 25% of patients...
2023: Frontiers in Oncology
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