Emerging Therapeutic Approaches for Diamond Blackfan Anemia
نویسندگان
چکیده
منابع مشابه
Diamond 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 کاملDiamond-Blackfan anemia.
Diamond-Blackfan anemia (DBA) is a rare, congenital, hypoplastic anemia that usually presents in early infancy. Congenital anomalies, particularly of the head and upper limbs, are present in about a quarter of reported patients. The disease is characterized by a moderate-to-severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia,...
متن کاملOral megadose methylprednisolone for Diamond-Blackfan anemia.
I have read the report of Olivieri et al’ in the May 1, 1994 issue of BLOOD. Although the investigators stated that “in standard practice, treatment options are limited to two: steroid therapy or RBC transfusions,” they ignore our very good results obtained with megadose methylprednisolone (MDMP; initial dose 30 to 100 mgkg/d for 3 days followed progressive halving of the dose every 4 to 7 days...
متن کاملIncidence 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 کاملJohanson-Blizzard syndrome with Diamond-Blackfan anemia.
Johanson Blizzard syndrome (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, growth retardation, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, café-au-lait spots and absent of permanent teeth. We report a 3 months old male child having Joh...
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ژورنال
عنوان ژورنال: Current Gene Therapy
سال: 2018
ISSN: 1566-5232
DOI: 10.2174/1566523218666181109124538