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Diamond Blackfan Anemia

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https://www.readbyqxmd.com/read/27913462/pure-red-cell-aplasia
#1
Robert T Means
Pure red cell aplasia (PRCA) is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. Diamond-Blackfan anemia is a congenital form of PRCA. Acquired PRCA may be either a primary disorder or secondary to some other disorder or agent. Primary acquired PRCA is an autoimmune disorder that is frequently antibody-mediated. Myelodysplastic syndromes may also present with the morphologic appearance of PRCA. Secondary acquired PRCA may be associated with collagen vascular/autoimmune disorders such as systemic lupus erythematosus; lymphoproliferative disorders such as chronic lymphocytic leukemia or large granular lymphocyte leukemia; infections, particularly B19 parvovirus; thymoma and other solid tumors; or a variety of other disorders, drugs, or toxic agents...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27909223/exome-sequencing-identified-rps15a-as-a-novel-causative-gene-for-diamond-blackfan-anemia
#2
Fumika Ikeda, Kenichi Yoshida, Tsutomu Toki, Tamayo Uechi, Shiori Ishida, Yukari Nakajima, Yoji Sasahara, Yusuke Okuno, Rika Kanezaki, Kiminori Terui, Takuya Kamio, Akie Kobayashi, Takashi Fujita, Aiko Sato-Otsubo, Yuichi Shiraishi, Hiroko Tanaka, Kenichi Chiba, Hideki Muramatsu, Hitoshi Kanno, Shouichi Ohga, Akira Ohara, Seiji Kojima, Naoya Kenmochi, Satoru Miyano, Seishi Ogawa, Etsuro Ito
No abstract text is available yet for this article.
December 1, 2016: Haematologica
https://www.readbyqxmd.com/read/27882484/diagnostic-challenge-of-diamond-blackfan-anemia-in-mothers-and-children-by-whole-exome-sequencing
#3
Takuya Ichimura, Kenichi Yoshida, Yusuke Okuno, Toshiaki Yujiri, Kozo Nagai, Masanori Nishi, Yuichi Shiraishi, Hiroo Ueno, Tsutomu Toki, Kenichi Chiba, Hiroko Tanaka, Hideki Muramatsu, Toshiro Hara, Hitoshi Kanno, Seiji Kojima, Satoru Miyano, Etsuro Ito, Seishi Ogawa, Shouichi Ohga
Diamond-Blackfan anemia (DBA) is a pure red cell aplasia that arises from defective ribosomal proteins (RPs). Patients with this rare ribosomopathy present with neonatal anemia and occasional dysmorphism. Clinical heterogeneity and clusters of causative RP genes hamper the diagnosis and perinatal management. We report three mother-and-child pairs of anemia who were finally diagnosed by whole-exome sequencing. Each pair showed distinct disease severity and response to anemia treatment. Only one mother had the diagnostic dysmorphism, including short stature, webbed neck, and thenar hypoplasia...
November 23, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27881371/pure-red-cell-aplasia
#4
REVIEW
Robert T Means
Pure red cell aplasia (PRCA) is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. Diamond-Blackfan anemia is a congenital form of PRCA. Acquired PRCA may be either a primary disorder or secondary to some other disorder or agent. Primary acquired PRCA is an autoimmune disorder that is frequently antibody-mediated. Myelodysplastic syndromes may also present with the morphologic appearance of PRCA. Secondary acquired PRCA may be associated with collagen vascular/autoimmune disorders such as systemic lupus erythematosus; lymphoproliferative disorders such as chronic lymphocytic leukemia or large granular lymphocyte leukemia; infections, particularly B19 parvovirus; thymoma and other solid tumors; or a variety of other disorders, drugs, or toxic agents...
November 24, 2016: Blood
https://www.readbyqxmd.com/read/27826594/iron-overload-and-platelet-function-defects-possible-correlation
#5
Abdulkader A Dahi, Ehab Hanafy, Mohammed Al Pakra
Acquired platelet function defect might be a consequence of iron overload. Even though there are various complications of iron overload, only few reports have indicated some correlations with platelets dysfunction. We report a child with Diamond-Blackfan anemia who has significant complications from iron overload due to chronic blood transfusion, and one of these complications is acquired platelet function defect that manifests with frequent episodes of epistaxis. Therefore, we emphasize the necessity for further studies to confirm direct correlation between iron overload as a causative agent and platelets dysfunction...
October 2016: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/27765567/hypermethylation-of-28s-ribosomal-rna-in-%C3%AE-thalassemia-trait-carriers
#6
Wannapa Sornjai, Pathrapol Lithanatudom, Jenny Erales, Philippe Joly, Alain Francina, Sabine Hacot, Suthat Fucharoen, Saovaros Svasti, Jean Jacques Diaz, Hichem C Mertani, Duncan R Smith
Ribosome biogenesis is the process of synthesis of the cellular ribosomes which mediate protein translation. Integral with the ribosomes are four cytoplasmic ribosomal RNAs (rRNAs) which show extensive post-transcriptional modifications including 2'-O-methylation and pseudouridylation. Several hereditary hematologic diseases including Diamond-Blackfan anemia have been shown to be associated with defects in ribosome biogenesis. Thalassemia is the most important hematologic inherited genetic disease worldwide, and this study examined the post-transcriptional ribose methylation status of three specific active sites of the 28S rRNA molecule at positions 1858, 4197 and 4506 of β-thalassemia trait carriers and normal controls...
October 17, 2016: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/27734913/depletion-of-ribosomal-protein-s19-causes-a-reduction-of-rrna-synthesis
#7
Giada Juli, Angelo Gismondi, Valentina Monteleone, Sara Caldarola, Valentina Iadevaia, Anna Aspesi, Irma Dianzani, Christopher G Proud, Fabrizio Loreni
Ribosome biogenesis plays key roles in cell growth by providing increased capacity for protein synthesis. It requires coordinated production of ribosomal proteins (RP) and ribosomal RNA (rRNA), including the processing of the latter. Here, we show that, the depletion of RPS19 causes a reduction of rRNA synthesis in cell lines of both erythroid and non-erythroid origin. A similar effect is observed upon depletion of RPS6 or RPL11. The deficiency of RPS19 does not alter the stability of rRNA, but instead leads to an inhibition of RNA Polymerase I (Pol I) activity...
October 13, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27732904/a-new-in-frame-deletion-in-ribosomal-protein-s19-in-a-chinese-infant-with-diamond-blackfan-anemia
#8
Jing-Ying Zhang, Ming Jia, Hai-Zhao Zhao, Ze-Bin Luo, Wei-Qun Xu, He-Ping Shen, Yong-Min Tang
Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents as macrocytic anemia during infancy. Ribosomal protein S19 (RPS19) is identified as the first gene associated with DBA. RPS19 is mutated in 25% of DBA patients, but its role in DBA pathogenesis remains to be elucidated. We have identified a novel heterozygous frameshift mutation in RPS19 gene in a DBA child presenting with profound anemia after birth. A single nucleotide heterozygous deletion (C.251delG) results in frameshift in RPS19 gene in exon 4 at codon 84 with possible premature stop codon (p...
November 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27601194/critical-diamond-blackfan-anemia-due-to-ribosomal-protein-s19-missense-mutation
#9
Shuichi Ozono, Miho Mitsuo, Maiko Noguchi, Shin-Ichiro Nakagawa, Koichiro Ueda, Hiroko Inada, Shouichi Ohga, Etsuro Ito
Diamond-Blackfan anemia (DBA) is a rare congenital disorder characterized by pure erythrocyte aplasia, and approximately 70% of patients carry mutations in the genes encoding ribosomal proteins (RP). Here, we report the case of a male infant with DBA who presented with anemic crisis (hemoglobin [Hb] concentration 1.5 g/dL) at 58 days after birth. On admission, the infant was pale and had tachypnea, but recovered with intensive care, including red blood cell transfusions, and prednisolone. Based on the clinical diagnosis of DBA, the father of the infant had cyclosporine-A-dependent anemia...
September 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27550323/towards-rna-repair-of-diamond-blackfan-anemia-hematopoietic-stem-cells
#10
Diane D'Allard, Johnson Liu
Diamond Blackfan anemia (DBA) is a well known inherited bone marrow failure syndrome mostly caused by mutations in ribosomal protein (RP) genes but also rarely in the hematopoietic transcription factor gene, <i>GATA1</i>, or <i>TSR2</i>, a ribosomal protein (Rps26) chaperone gene. About 25% of patients have heterozygous mutations in the <i>RPS19</i> gene, which leads to haploinsufficiency of Rps19 protein in most cases. However, some <i>RPS19</i> missense mutations appear to act in a dominant negative fashion...
August 22, 2016: Human Gene Therapy
https://www.readbyqxmd.com/read/27498735/recent-advances-in-inherited-bone-marrow-failure-syndrome-research
#11
Etsuro Ito, Tsutomu Toki, Kiminori Terui
Inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders characterized by bone marrow failure, congenital anomalies, and an increased risk of malignancies. Diagnosis is often difficult due to the wide variety of clinical expressions. The representative diseases are Diamond Blackfan anemia (DBA), Fanconi anemia (FA), congenital sideroblastic anemia (CSA), congenital dyserhthropoietic anemia, Shwachman Diamond syndrome, and dyskeratosis congenita. Next-generation sequencing technologies have facilitated the discovery of germline mutations that cause IBMFS...
July 2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/27486481/a-de-novo-1-6mb-microdeletion-at-19q13-2-in-a-boy-with-diamond-blackfan-anemia-global-developmental-delay-and-multiple-congenital-anomalies
#12
Haiming Yuan, Zhe Meng, Liping Liu, Xiaoyan Deng, Xizi Hu, Liyang Liang
BACKGROUD: Microdeletions at 19q13.2 are very rare. Only two cases have been previously described. Here we report a 2-year-2-month old boy with Diamond-Blackfan anemia, global developmental delay, cognitive impairments, distinctive facial features, behavior problems, skeletal and genital dysplasia. CASE PRESENTATION: A de novo 1.6 Mb microdeletion at 19q13.2q13.31 was detected by chromosomal microarray analysis. Haploinsufficiency of the RPS19 gene is known to cause Diamond-Blackfan anemia, other features in this patient are likely due to the deletion of other candidate genes such as PAFAH1B3, ERF, LIPE and GSK3A...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27428025/otologic-manifestations-of-fanconi-anemia-and-other-inherited-bone-marrow-failure-syndromes
#13
Adedoyin Kalejaiye, Neelam Giri, Carmen C Brewer, Christopher K Zalewski, Kelly A King, Charleen D Adams, Philip S Rosenberg, H Jeffrey Kim, Blanche P Alter
BACKGROUND: The inherited bone marrow failure syndromes (IBMFSs) are diverse disorders with syndrome-specific features; their otologic and audiologic manifestations have not been well described. Our objective was to characterize these in patients with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS), and to determine the association between physical findings and hearing loss. METHODS: Patients with an IBMFS underwent comprehensive clinical and laboratory evaluations and testing for syndrome-specific gene mutations...
July 18, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27408399/a-novel-mutation-of-ribosomal-protein-s19-gene-in-a-chinese-child-with-diamond-blackfan-anemia
#14
Hua Jiang, Man-Yu Wu, Dong-Zhi Li
No abstract text is available yet for this article.
June 2016: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/27329125/clinical-features-mutations-and-treatment-of-104-patients-of-diamond-blackfan-anemia-in-china-a-single-center-retrospective-study
#15
Yang Wan, Xiaojuan Chen, Wenbin An, Min Ruan, Jingliao Zhang, Lixian Chang, Ranran Zhang, Shuai Zhu, Yingchi Zhang, Wenyu Yang, Ye Guo, Weiping Yuan, Yao Zou, Yumei Chen, Xiaofan Zhu
Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by a paucity of erythroid progenitors. We summarized the clinical and genetic features of 104 DBA patients in a single-center retrospective study in China. Data of DBA patients who received consultations at our center from 2003 to 2015 were analyzed retrospectively. Genes encoding 10 ribosomal proteins (RPs) and GATA1 were sequenced for mutation detection. Our cohort was composed of 65 males and 39 females. Congenital malformations were observed in 19 patients...
October 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27294833/the-role-of-ribosomal-proteins-in-the-regulation-of-cell-proliferation-tumorigenesis-and-genomic-integrity
#16
REVIEW
Xilong Xu, Xiufang Xiong, Yi Sun
Ribosomal proteins (RPs), the essential components of the ribosome, are a family of RNA-binding proteins, which play prime roles in ribosome biogenesis and protein translation. Recent studies revealed that RPs have additional extra-ribosomal functions, independent of protein biosynthesis, in regulation of diverse cellular processes. Here, we review recent advances in our understanding of how RPs regulate apoptosis, cell cycle arrest, cell proliferation, neoplastic transformation, cell migration and invasion, and tumorigenesis through both MDM2/p53-dependent and p53-independent mechanisms...
July 2016: Science China. Life Sciences
https://www.readbyqxmd.com/read/27282564/erythrocyte-glutathione-is-a-novel-biomarker-of-diamond-blackfan-anemia
#17
Taiju Utsugisawa, Toshitaka Uchiyama, Tsutomu Toki, Hiromi Ogura, Takako Aoki, Isao Hamaguchi, Akira Ishiguro, Akira Ohara, Seiji Kojima, Shouichi Ohga, Etsuro Ito, Hitoshi Kanno
Diamond-Blackfan anemia (DBA) is a congenital red cell aplasia with mutations in ribosomal protein (RP) genes. Elevated activity of erythrocyte adenosine deaminase (eADA) has been utilized as a biomarker of DBA. We examined erythrocyte reduced glutathione (GSH) as well as eADA in 22 patients in 18 DBA families, in whom RP gene mutations had been identified. Simultaneous evaluation of both eADA and GSH demonstrated that all examined DBA patients showed elevated values of either eADA or GSH, whereas presence of both eADA and GSH elevation was able to distinguish DBA patients from 34 normal controls and 14 unaffected members of the DBA families...
July 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27258031/diamond-blackfan-anemia-a-nonclassical-patient-with-diagnosis-assisted-by-genomic-analysis
#18
Orna Steinberg-Shemer, Siobán Keel, Orly Dgany, Tom Walsh, Sharon Noy-Lotan, Tanya Krasnov, Joanne Yacobovich, Paola Quarello, Ugo Ramenghi, Mary-Claire King, Akiko Shimamura, Hannah Tamary
Diamond Blackfan anemia (DBA) is an inherited syndrome usually presenting with severe macrocytic anemia in infancy, paucity of erythroid precursors in the bone marrow, and congenital anomalies. We describe a child with mild, transfusion independent normocytic anemia whose diagnosis of DBA was established by identification of a novel de novo mutation disrupting normal splicing of the ribosomal protein RPL5. The diagnosis of DBA was confirmed by elevated erythrocyte adenosine deaminase levels and an abnormal ribosomal RNA profile...
October 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27248996/hereditary-predispositions-to-myelodysplastic-syndrome
#19
REVIEW
Sarah A Bannon, Courtney D DiNardo
Myelodysplastic syndromes (MDS) are heterogeneous clonal hematopoietic disorders characterized by ineffective hematopoiesis, bone marrow dysplasia, and peripheral cytopenias. Familial forms of MDS have traditionally been considered rare, especially in adults; however, the increasing availability of somatic and germline genetic analyses has identified multiple susceptibility loci. Bone marrow failure syndromes have been well-described in the pediatric setting, e.g., Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SBS), hallmarked by clinically-recognizable phenotypes (e...
May 30, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27217013/-laparoscopic-nephrectomy-in-infant-with-diamond-blackfan-syndrome
#20
Hirotaka Matsui, Koichi Suzuki, Kumiko Kato, Ryohei Hattori
An 8-month-old girl with Diamond Blackfan syndrome and idiopathic neutropenia needed steroid therapy for anemia, but the left multicystic dysplastic kidney was often infected. We performed laparoscopic nephrectomy for infection control without any complications. Neutrocytes increased and the infection decreased after nephrectomy even with steroid therapy. Finally, she underwent bone marrow transplantation, as the anemia was not responding to steroid therapy.
April 2016: Hinyokika Kiyo. Acta Urologica Japonica
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