Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR)
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چکیده
منابع مشابه
Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.
Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by red cell aplasia and congenital anomalies. A predisposition to cancer has been suggested but not quantified by case reports. The DBA Registry of North America (DBAR) is the largest established DBA patient cohort, with prospective follow-up since 1991. This report presents the first quantitative assessmen...
متن کاملRED CELLS, IRON, AND ERYTHROPOIESIS Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry
1Steven and Alexandra Cohen Children’s Medical Center of New York, Hematology/Oncology and Stem Cell Transplantation, New Hyde Park, NY; 2The Feinstein Institute for Medical Research, Manhasset, NY; 3Hofstra North Shore–Long Island Jewish School of Medicine, Hempstead, NY; and 4Biostatistics Branch and 5Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Inst...
متن کاملHigh Adenosine Deaminase Level Among Healthy Probands of Diamond Blackfan Anemia (DBA) Cosegregates With the DBA Gene Region on Chromosome 19q13
http://bloodjournal.hematologylibrary.org/content/92/11/4422.full.html Updated information and services can be found at: (1174 articles) Red Cells Articles on similar topics can be found in the following Blood collections http://bloodjournal.hematologylibrary.org/site/misc/rights.xhtml#repub_requests Information about reproducing this article in parts or in its entirety may be found online a...
متن کاملDiamond Blackfan anemia.
Mutations affecting genes encoding ribosomal proteins cause Diamond Blackfan anemia (DBA), a rare congenital syndrome associated with physical anomalies, short stature, red cell aplasia, and an increased risk of malignancy. p53 activation has been identified as a key component in the pathophysiology of DBA after cellular and molecular studies of knockdown cellular and animal models of DBA and o...
متن کاملThe Stomatological Complications of Diamond-Blackfan Anemia: A Case Report.
Diamond-Blackfan Anemia (DBA) is a rare heterogeneous genetic disease characterized by severe anemia, reduction or absence of erythroid progenitors, and pro-apoptoptic hematopoiesis, which culminates in bone marrow failure. The disease generally manifests in infancy, as craniofacial, cardiac, genitourinary, and upper limb congenital anomalies. Therapy with corticoids is the treatment of choice,...
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ژورنال
عنوان ژورنال: Pediatric Blood & Cancer
سال: 2015
ISSN: 1545-5009
DOI: 10.1002/pbc.25780