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https://www.readbyqxmd.com/read/29124822/advanced-cell-culture-models-for-diamond-blackfan-anemia-and-other-erythroid-disorders
#1
REVIEW
Anna Rita Migliaccio, Lilian Varricchio
In vitro surrogate models of human erythropoiesis made many contributions to our understanding of the extrinsic and intrinsic regulation of this process in vivo and how they are altered in erythroid disorders. In the past, variability among the levels of hemoglobin F produced by adult erythroblasts generated in vitro by different laboratories identified stage of maturation, fetal bovine serum and accessory cells as "confounding factors", i.e. parameters intrinsically wired in the experimental approach that bias the results observed...
November 10, 2017: Stem Cells
https://www.readbyqxmd.com/read/29114930/pediatric-diamond-blackfan-anemia-in-the-netherlands-an-overview-of-clinical-characteristics-and-underlying-molecular-defects
#2
B van Dooijeweert, C H van Ommen, F J Smiers, R Y J Tamminga, M W Te Loo, A E Donker, M Peters, B Granzen, J J P Gille, M B Bierings, A W MacInnes, M Bartels
INTRODUCTION: Diamond-Blackfan anemia (DBA) is characterized by hypoplastic anemia, congenital anomalies, and a predisposition for malignancies. Most of our understanding of this disorder stems from molecular studies combined with extensive data input from international patient registries. OBJECTIVES: To create an overview of the pediatric DBA population in the Netherlands. METHODS: Forty-three patients diagnosed with DBA from all Dutch university pediatric hospitals were included in this study and their clinical and genetic characteristics were collected from patient records...
November 7, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29097519/ribosomopathies-there-s-strength-in-numbers
#3
REVIEW
Eric W Mills, Rachel Green
Ribosomopathies are a group of human disorders most commonly caused by ribosomal protein haploinsufficiency or defects in ribosome biogenesis. These conditions manifest themselves as physiological defects in specific cell and tissue types. We review current molecular models to explain ribosomopathies and attempt to reconcile the tissue specificity of these disorders with the ubiquitous requirement for ribosomes in all cells. Ribosomopathies as a group are diverse in their origins and clinical manifestations; we use the well-described Diamond-Blackfan anemia (DBA) as a specific example to highlight some common features...
November 3, 2017: Science
https://www.readbyqxmd.com/read/29081386/molecular-approaches-to-diagnose-diamond-blackfan-anemia-the-eurodba-experience
#4
REVIEW
Lydie Da Costa, Marie-Françoise O'Donohue, Birgit van Dooijeweert, Katarzyna Albrecht, Sule Unal, Ugo Ramenghi, Thierry Leblanc, Irma Dianzani, Hannah Tamary, Marije Bartels, Pierre-Emmanuel Gleizes, Marcin Wlodarski, Alyson W MacInnes
Diamond-Blackfan anemia (DBA) is a rare congenital erythroblastopenia and inherited bone marrow failure syndrome that affects approximately seven individuals in every million live births. In addition to anemia, about 50% of all DBA patients suffer from various physical malformations of the face, hands, heart, or urogenital region. The disorder is almost exclusively driven by haploinsufficient mutations in one of several ribosomal protein (RP) genes, although for ∼30% of diagnosed patients no mutation is found in any of the known DBA-linked genes...
October 26, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29051281/cancer-in-the-national-cancer-institute-inherited-bone-marrow-failure-syndrome-cohort-after-15-years-of-follow-up
#5
Blanche P Alter, Neelam Giri, Sharon A Savage, Philip S Rosenberg
The National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort enrolls patients with the four major syndromes: Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome, and follows them with a common comprehensive protocol. The current analysis includes more than double the numbers of patients and person-years since our first report in 2010. Patients with Fanconi anemia and dyskeratosis congenita developed head and neck and anogenital squamous cell carcinomas at rates that are hundreds-fold greater than the general population...
October 19, 2017: Haematologica
https://www.readbyqxmd.com/read/29044489/molecular-analysis-and-genotype-phenotype-correlation-of-diamond-blackfan-anemia
#6
O A Arbiv, G Cuvelier, R J Klaassen, C V Fernandez, N Robitaille, M G Steele, V Breakey, S Abish, J Wu, R Sinha, M Silva, L Goodyear, L Jardine, J H Lipton, C Corriveau-Bourque, J Brossard, B Michon, I Ghemlas, N Waespe, B Zlateska, L Sung, M Cada, Y Dror
Diamond-Blackfan anemia (DBA) features hypoplastic anemia and congenital malformations, largely caused by mutations in various ribosomal proteins. The aim of this study was to characterize the spectrum of genetic lesions causing DBA and identify genotypes that correlate with phenotypes of clinical significance. Seventy-four patients with DBA from across Canada were included. Nucleotide-level mutations or large deletions were identified in 10 ribosomal genes in 45 cases. The RPS19 mutation group was associated with higher requirement for chronic treatment for anemia than other DBA groups...
October 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28971907/self-reverting-mutations-partially-correct-the-blood-phenotype-in-a-diamond-blackfan-anemia-patient
#7
Parvathy Venugopal, Sarah Moore, David M Lawrence, Amee J George, Ross D Hannan, Sarah Ce Bray, Luen Bik To, Richard J D'Andrea, Jinghua Feng, Amanda Tirimacco, Alexandra L Yeoman, Chun Chun Young, Miriam Fine, Andreas W Schreiber, Christopher N Hahn, Christopher Barnett, Ben Saxon, Hamish S Scott
No abstract text is available yet for this article.
September 29, 2017: Haematologica
https://www.readbyqxmd.com/read/28931864/lymphoblastoid-cell-lines-from-diamond-blackfan-anaemia-patients-exhibit-a-full-ribosomal-stress-phenotype-that-is-rescued-by-gene-therapy
#8
Anna Aspesi, Valentina Monteleone, Marta Betti, Chiara Actis, Giulia Morleo, Marika Sculco, Simonetta Guarrera, Marcin W Wlodarski, Ugo Ramenghi, Claudio Santoro, Steven R Ellis, Fabrizio Loreni, Antonia Follenzi, Irma Dianzani
Diamond Blackfan anaemia (DBA) is a congenital bone marrow failure syndrome characterised by selective red cell hypoplasia. DBA is most often due to heterozygous mutations in ribosomal protein (RP) genes that lead to defects in ribosome biogenesis and function and result in ribosomal stress and p53 activation. The molecular mechanisms underlying this pathology are still poorly understood and studies on patient erythroid cells are hampered by their paucity. Here we report that RP-mutated lymphoblastoid cell lines (LCLs) established from DBA patients show defective rRNA processing and ribosomal stress features such as reduced proliferation, decreased protein synthesis, and activation of p53 and its target p21...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28883274/successful-long-term-management-with-low-dose-prednisolone-in-an-adult-patient-with-diamond-blackfan-anemia
#9
Toshie Ogasawara, Kiyotaka Kawauchi, Naoki Mori, Hiroshi Sakura, Fumiyo Katoh, Hitoshi Kanno, Etsuro Ito
Diamond-Blackfan anemia (DBA) is a rare congenital disease caused by mutations in ribosomal protein genes and is characterized by pure red cell aplasia. While the prognosis is relatively favorable, quality of life (QOL) among DBA patients is negatively impacted by the adverse effects of long-term prednisolone (PSL) therapy and blood transfusions. We describe a 43-year-old man who was diagnosed with DBA (Hb of 2.18 g/dl) at the age of two months. He was initially treated with PSL and blood transfusions, followed by cyclosporine and low-dose (6 mg/day) PSL, which resulted in a sustained hemoglobin level of 9 g/dl without severe adverse events or loss of QOL...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28801981/pregnancy-outcomes-in-mothers-of-offspring-with-inherited-bone-marrow-failure-syndromes
#10
Neelam Giri, Helen D Reed, Pamela Stratton, Sharon A Savage, Blanche P Alter
BACKGROUND: Children with inherited bone marrow failure syndromes (IBMFSs) may be symptomatic in utero, resulting in maternal and fetal problems during the pregnancy. Subsequent pregnancies by their mothers should be considered "high risk". METHODS: We retrospectively analyzed outcomes of 575 pregnancies in 165 unaffected mothers of offspring with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS) for events noted during pregnancy, labor, and delivery...
August 12, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28759050/rps26-directs-mrna-specific-translation-by-recognition-of-kozak-sequence-elements
#11
Max B Ferretti, Homa Ghalei, Ethan A Ward, Elizabeth L Potts, Katrin Karbstein
We describe a novel approach to separate two ribosome populations from the same cells and use this method in combination with RNA-seq to identify mRNAs bound to Saccharomyces cerevisiae ribosomes with and without Rps26, a protein linked to the pathogenesis of Diamond-Blackfan anemia (DBA). These analyses reveal that Rps26 contributes to mRNA-specific translation by recognition of the Kozak sequence in well-translated mRNAs and that Rps26-deficient ribosomes preferentially translate mRNA from select stress-response pathways...
September 2017: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/28745457/discrimination-of-diamond-blackfan-anemia-from-parvovirus-b19-infection-by-rbc-glutathione
#12
Jun Noguchi, Hitoshi Kanno, Yuta Chiba, Etsuro Ito, Akira Ishiguro
No abstract text is available yet for this article.
July 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28742285/variable-expressivity-and-incomplete-penetrance-in-a-large-family-with-non-classical-diamond-blackfan-anemia-associated-with-ribosomal-protein-l11-splicing-variant
#13
Colleen M Carlston, Zeinab A Afify, Janice C Palumbos, Heidi Bagley, Carlos Barbagelata, Whitney L Wooderchak-Donahue, Rong Mao, John C Carey
Diamond-Blackfan anemia (DBA) is a group of clinically and genetically heterogeneous bone marrow failure disorders with or without congenital anomalies. Variable expressivity and incomplete penetrance have been observed within affected families. Diamond-Blackfan anemia-7 (DBA7), caused by heterozygous mutations in ribosomal protein L11 (RPL11), accounts for approximately 5% of DBA. DBA7 is usually characterized by early-onset bone marrow failure often accompanied by congenital malformations, especially thumb defects...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28643569/iron-overload-directly-affecting-the-ovaries-in-a-patient-with-diamond-blackfan-anaemia-a-case-report
#14
Mariano Mascarenhas, Victoria Rawnsley, Adam Balen
Iron is a 'one-way' element and the primary point of regulation of body iron stores is at the level of intestinal iron absorption. Repeated blood transfusions for congenital anaemias bypass this regulatory checkpoint and inevitably lead to iron overload in the long-term. Iron overload causes multi-organ dysfunction of the heart, liver, pancreas and joints. It also causes reproductive toxicity primarily through its damaging effect on the anterior pituitary leading to hypogonadotrophic hypogonadism. Another less understood mechanism of reproductive toxicity is direct gonadal damage of excess free iron...
June 23, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28637614/classical-inherited-bone-marrow-failure-syndromes-with-high-risk-for-myelodysplastic-syndrome-and-acute-myelogenous-leukemia
#15
REVIEW
Sharon A Savage, Carlo Dufour
The inherited marrow failure syndromes (IBMFS) are a heterogeneous group of diseases characterized by failure in the production of one or more blood lineage. The clinical manifestations of the IBMFS vary according to the type and number of blood cell lines involved, including different combinations of anemia, leukopenia, and thrombocytopenia. In some IBMFS, systemic non-hematologic manifestations, including congenital malformations, mucocutaneous abnormalities, developmental delay, and other medical complications, may be present...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28623394/disease-specific-hematopoietic-stem-cell-transplantation-in-children-with-inherited-bone-marrow-failure-syndromes
#16
Qian Li, Changying Luo, Chengjuan Luo, Jianmin Wang, Benshang Li, Lixia Ding, Jing Chen
Hematopoietic stem cell transplantation (HSCT) using an optimized conditioning regimen is essential for the long-term survival of patients with inherited bone marrow failure syndromes (IBMFS). We report HSCT in 24 children with Fanconi anemia (FA, n = 12), Diamond-Blackfan anemia (DBA, n = 7), and dyskeratosis congenita (DC, n = 5) from a single HSCT center. The graft source was peripheral blood stem cells (n = 19) or cord blood stem cells (n = 5). FA and DC patients received reduced-intensity conditioning, while DBA patients had myeloablative conditioning...
August 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28615220/confounding-in-ex-vivo-models-of-diamond-blackfan-anemia
#17
LETTER
Jacob C Ulirsch, Caleb Lareau, Leif S Ludwig, Narla Mohandas, David G Nathan, Vijay G Sankaran
No abstract text is available yet for this article.
August 31, 2017: Blood
https://www.readbyqxmd.com/read/28602958/allogeneic-hematopoietic-cell-transplantation-using-treosulfan-based-conditioning-for-treatment-of-marrow-failure-disorders
#18
Lauri M Burroughs, Akiko Shimamura, Julie-An Talano, Jennifer A Domm, Kelsey K Baker, Colleen Delaney, Haydar Frangoul, David A Margolis, K Scott Baker, Eneida R Nemecek, Amy E Geddis, Brenda M Sandmaier, H Joachim Deeg, Rainer Storb, Ann E Woolfrey
Hematopoietic cell transplantation (HCT) is effective in the treatment of inherited marrow failure disorders and other nonmalignant diseases. Conventional myeloablative conditioning regimens have been associated with high transplant-related mortality, particularly in patients with comorbid conditions. Here we report on 14 patients with marrow failure disorders (Shwachman-Diamond syndrome, n = 3; Diamond Blackfan anemia, n = 4; GATA2 deficiency, n = 2; paroxysmal nocturnal hemoglobinuria, n = 4; and an undefined marrow failure disorder, n = 1) who underwent HCT on a prospective, phase II, multicenter clinical trial...
October 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28566565/gata-transcription-factors-basic-principles-and-related-human-disorders
#19
Tohru Fujiwara
The development of mature blood cell from hematopoietic stem cells is regulated by transcription factors that coordinate the expression of lineage-specific genes. GATA transcription factors are zinc finger DNA-binding proteins that play crucial roles in various biological processes, including hematopoiesis. Among GATA family proteins, GATA-1, GATA-2, and GATA-3 are essential for hematopoiesis. GATA-1 functions to promote development of erythrocytes, megakaryocytes, eosinophils, and mast cells. Mutations in GATA-1 are associated with acute megakaryoblastic leukemia (AMKL), congenital erythroid hypoplasia (Diamond-Blackfan anemia; DBA), and X-linked anemia and/or thrombocytopenia...
June 2017: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28533057/late-effects-screening-guidelines-after-hematopoietic-cell-transplantation-for-inherited-bone-marrow-failure-syndromes-consensus-statement-from-the-second-pediatric-blood-and-marrow-transplant-consortium-international-conference-on-late-effects-after-pediatric
#20
REVIEW
Andrew C Dietz, Sharon A Savage, Adrianna Vlachos, Parinda A Mehta, Dorine Bresters, Jakub Tolar, Carmem Bonfim, Jean Hugues Dalle, Josu de la Fuente, Roderick Skinner, Farid Boulad, Christine N Duncan, K Scott Baker, Michael A Pulsipher, Jeffrey M Lipton, John E Wagner, Blanche P Alter
Patients with inherited bone marrow failure syndromes (IBMFS), such as Fanconi anemia (FA), dyskeratosis congenita (DC), or Diamond Blackfan anemia (DBA), can have hematologic manifestations cured through hematopoietic cell transplantation (HCT). Subsequent late effects seen in these patients arise from a combination of the underlying disease, the pre-HCT therapy, and the HCT process. During the international consensus conference sponsored by the Pediatric Blood and Marrow Transplant Consortium on late effects screening and recommendations following allogeneic hematopoietic cell transplantation for immune deficiency and nonmalignant hematologic diseases held in Minneapolis, Minnesota in May 2016, a half-day session was focused specifically on the unmet needs for these patients with IBMFS...
September 2017: Biology of Blood and Marrow Transplantation
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