keyword
MENU ▼
Read by QxMD icon Read
search

Diamond blackfan

keyword
https://www.readbyqxmd.com/read/28883274/successful-long-term-management-with-low-dose-prednisolone-in-an-adult-patient-with-diamond-blackfan-anemia
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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.
June 14, 2017: Blood
https://www.readbyqxmd.com/read/28602958/allogeneic-hematopoietic-cell-transplantation-using-treosulfan-based-conditioning-for-treatment-of-marrow-failure-disorders
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28486441/bone-mineral-density-in-patients-with-inherited-bone-marrow-failure-syndromes
#13
Roopa Kanakatti Shankar, Neelam Giri, Maya B Lodish, Ninet Sinaii, James C Reynolds, Sharon A Savage, Constantine A Stratakis, Blanche P Alter
BackgroundPatients with inherited bone marrow failure syndromes (IBMFS) may have several risk factors for low bone mineral density (BMD). We aimed to evaluate the prevalence of low BMD in IBMFS and determine the associated risk factors.MethodsPatients with IBMFS with at least one dual-energy X-ray absorptiometry (DXA) scan were evaluated. Diagnosis of each IBMFS, Fanconi anemia (FA), dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome was confirmed by syndrome-specific tests. Data were gathered on age, height, and clinical history...
September 2017: Pediatric Research
https://www.readbyqxmd.com/read/28469922/mid-life-extra-haematopoetic-manifestations-of-diamond-blackfan-anaemia
#14
Christopher Muir, Anthony Dodds, Katherine Samaras
SUMMARY: Diamond-Blackfan anaemia (DBA) is a rare cause of bone marrow failure. The incidence of malignancy and endocrine complications are increased in DBA, relative to other inherited bone marrow failure syndromes. We describe an adult woman with DBA who developed osteoporosis and avascular necrosis (AVN) of both distal femora. Such endocrine complications are not uncommon in DBA, but under-appreciated, especially in adulthood. Further, rectal adenocarcinoma was diagnosed at age 32 years, requiring hemi-colectomy and adjuvant chemotherapy...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28434866/lentiviral-vectors-with-cellular-promoters-correct-anemia-and-lethal-bone-marrow-failure-in-a-mouse-model-for-diamond-blackfan-anemia
#15
Shubhranshu Debnath, Pekka Jaako, Kavitha Siva, Michael Rothe, Jun Chen, Maria Dahl, H Bobby Gaspar, Johan Flygare, Axel Schambach, Stefan Karlsson
Diamond-Blackfan anemia is a congenital erythroid hypoplasia and is associated with physical malformations and a predisposition to cancer. Twenty-five percent of patients with Diamond-Blackfan anemia have mutations in a gene encoding ribosomal protein S19 (RPS19). Through overexpression of RPS19 using a lentiviral vector with the spleen focus-forming virus promoter, we demonstrated that the Diamond-Blackfan anemia phenotype can be successfully treated in Rps19-deficient mice. In our present study, we assessed the efficacy of a clinically relevant promoter, the human elongation factor 1α short promoter, with or without the locus control region of the β-globin gene for treatment of RPS19-deficient Diamond-Blackfan anemia...
August 2, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28432740/novel-3q27-2-qter-deletion-in-a-patient-with-diamond-blackfan-anemia-and-immunodeficiency-case-report-and-review-of-literature
#16
Ebba Alkhunaizi, Brett Schrewe, Reza Alizadehfar, Catherine Vézina, Grant S Stewart, Nancy Braverman
3q27.2-qter deletion syndromes feature an overlapping set of terminal and interstitial deletions with variable congenital malformations. Diamond-Blackfan anemia (DBA) is etiologically heterogeneous disorder in which one cause is dominant mutations of the RPL35A gene on 3q29. We report a child with a 3q27.2-qter deletion that contains the RPL35A gene. She had clinical and laboratory features consistent with DBA and as well, an unexplained immunodeficiency disorder. Given these unusual findings, we reviewed other patients in the literature with overlapping genomic deletions...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28377399/molecular-convergence-in-ex-vivo-models-of-diamond-blackfan-anemia
#17
Kelly A O'Brien, Jason E Farrar, Adrianna Vlachos, Stacie M Anderson, Crystiana A Tsujiura, Jens Lichtenberg, Lionel Blanc, Eva Atsidaftos, Abdel Elkahloun, Xiuli An, Steven R Ellis, Jeffrey M Lipton, David M Bodine
Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by erythroid hypoplasia, usually without perturbation of other hematopoietic lineages. Approximately 65% of DBA patients with autosomal dominant inheritance have heterozygous mutations or deletions in ribosomal protein (RP) genes while <1% of patients with X-linked inheritance have been identified with mutations in the transcription factor GATA1 Erythroid cells from patients with DBA have not been well characterized, and the mechanisms underlying the erythroid specific effects of either RP or GATA1 associated DBA remain unclear...
June 8, 2017: Blood
https://www.readbyqxmd.com/read/28376382/whole-exome-sequencing-in-the-differential-diagnosis-of-diamond-blackfan-anemia-clinical-and-molecular-study-of-three-patients-with-novel-rpl5-and-mosaic-rps19-mutations
#18
Edoardo Errichiello, Annalisa Vetro, Tommaso Mina, Anita Wischmeijer, Enrico Berrino, Miriam Carella, Maria Romagnoli, Patrizia Sacchini, Tiziana Venesio, Marco Zecca, Orsetta Zuffardi
Diamond-Blackfan anemia (DBA) is a rare congenital disorder presenting remarkable phenotypic overlap with other inherited bone marrow failure syndromes, making differential diagnosis challenging and its confirmation often reached with great delay. By whole exome sequencing, we unraveled the presence of pathogenic variants affecting genes already known to be involved in DBA pathogenesis (RPL5 and RPS19) in three patients with otherwise uncertain clinical diagnosis, and provided new insights on DBA genotype-phenotype correlations...
March 6, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28211564/the-genomics-of-inherited-bone-marrow-failure-from-mechanism-to-the-clinic
#19
REVIEW
Talia Wegman-Ostrosky, Sharon A Savage
The inherited bone marrow failure syndromes (IBMFS) typically present with significant cytopenias in at least one haematopoietic cell lineage that may progress to pancytopenia, and are associated with increased risk of cancer. Although the clinical features of the IBMFS are often diagnostic, variable disease penetrance and expressivity may result in diagnostic dilemmas. The discovery of the genetic aetiology of the IBMFS has been greatly facilitated by next-generation sequencing methods. This has advanced understanding of the underlying biology of the IBMFS and been essential in improving clinical management and genetic counselling for affected patients...
May 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28202115/-clinical-features-and-pathogenic-gene-detection-of-diamond-blackfan-anemia
#20
Xu He, Zhi-Liang Xu
OBJECTIVE: To investigate the clinical features of Diamond-Blackfan anemia (DBA) and related pathogenic genes. METHODS: A retrospective analysis was performed for the clinical data of two children with DBA, and related literature was reviewed. RESULTS: The two children with DBA (2-3 months old) manifested with severe normochromic normocytic anemia, decreased reticulocyte count, and increased serum iron and serum ferritin. Normal white blood cell and platelet counts were noted in the two patients...
February 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
keyword
keyword
34048
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"