pathophysiology and management of inherited bone marrow failure syndromes

... evolve into another Many of these syndromes share an immune-mediated mechanism of marrow destruction and some element of genomic instability resulting in a higher rate of malignant transformation ... aleukemic leukemia (AML) Some acute lymphoid leukemia Some lymphomas of bone marrow Pancytopenia with Cellular Bone Marrow Primary bone marrow diseases Secondary to systemic diseases Myelodysplasia ... or due to splenomegaly), and granulocytes (as in the immune leukopenias) Hematopoietic failure syndromes are classified by dominant morphologic features of the bone marrow (Table 102-1) While...

Ngày tải lên: 07/07/2014, 04:20

... hemoglobinuria (PNH; Chap 101) and to MDS, and in some cases a clear distinction among these disorders may not be possible Epidemiology The incidence of acquired aplastic anemia in Europe and Israel is two ... Israel is two cases per million persons annually In Thailand and China, rates of five to seven per million have been established In general, men and women are affected with equal frequency, but the ... Table 102-2 Classification of Aplastic Anemia and Single Cytopenias Acquired Inherited Aplastic Anemia Secondary Fanconi's anemia Radiation Dyskeratosis congenita Drugs and chemicals Shwachman-Diamond...

Ngày tải lên: 07/07/2014, 04:20

... cause of bone marrow failure Vast quantities of epidemiologic, clinical, and laboratory data link benzene to aplastic anemia, acute leukemia, and blood and marrow abnormalities The occurrence of ... translates, in a rare disease, to but a handful of drug-induced aplastic anemia cases among hundreds of thousands of exposed persons Table 102-3 Some Drugs and Chemicals Associated with Aplastic ... psychotropics, penicillamine, allopurinol, and gold Not all associations necessarily reflect causation: a drug may have been used to treat the first symptoms of bone marrow failure (antibiotics for fever...

Ngày tải lên: 07/07/2014, 04:20

... time of presentation [and PNH cells are also seen in MDS (see below)]; frank hemolysis and thrombotic episodes occur in patients with large PNH clones (>50%) Functional studies of bone marrow ... manifestations, show evidence of defective hematopoiesis Patients with an initial clinical diagnosis of PNH, especially younger individuals, may later develop frank marrow aplasia and pancytopenia; patients ... fluorescence-activated flow cytometry of CD55 or CD59 expression on granulocytes rather than Ham or sucrose lysis tests on red cells Small clones of deficient cells can be detected in about half of patients with...

Ngày tải lên: 07/07/2014, 04:20

... A Normal bone marrow biopsy B Normal bone marrow aspirate smear The marrow is normally 30–70% cellular, and there is a heterogeneous mix of myeloid, erythroid, and lymphoid cells C ... lymphoid cells C Aplastic anemia biopsy D Marrow smear in aplastic anemia The marrow shows replacement of hematopoietic tissue by fat and only residual stromal and lymphoid cells An intrinsic stem ... damage and death on exposure to certain chemical agents Telomeres are short in a large proportion of patients with aplastic anemia, and mutations in genes of the telomere repair complex (TERC and...

Ngày tải lên: 07/07/2014, 04:20

... constitutional etiology of marrow failure Physical Examination Petechiae and ecchymoses are typical, and retinal hemorrhages may be present Pelvic and rectal examinations can often be deferred but, ... feature of aplastic anemia is the restriction of symptoms to the hematologic system, and patients often feel and look remarkably well despite drastically reduced blood counts Systemic complaints and ... (interferon γ and tumor necrosis factor) Interferon and tumor necrosis factor induce Fas expression on CD34 cells, leading to apoptotic cell death; localization of activated T cells to bone marrow and...

Ngày tải lên: 07/07/2014, 04:20

... applicable to the constitutional marrow failure states is available in some laboratories Chromosome studies of bone marrow cells are often revealing in MDS and should be negative in typical aplastic ... usually straightforward, based on the combination of pancytopenia with a fatty, empty bone marrow Aplastic anemia is a disease of the young and should be a leading diagnosis in the pancytopenic ... atypical presentations and among related hematologic diseases While pancytopenia is most common, some patients with bone marrow hypocellularity have depression of only one or two of three blood lines,...

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... lungs, liver, bone marrow and normal femoral head, and the amount of GFP positive http://www.medsci.org Int J Med Sci 2011, MSCs in the bone marrow was higher than that in the liver, lungs and femoral ... sections of bone marrow, lungs, liver, and normal and necrotic femoral heads of rabbits with MSC transplantation were observed under fluorescence and light microscope Results revealed the amount of ... therapy of hip osteonecrosis with autologous bone marrow grafting Indian J Orthop 2009 Jan;43(1):40-45 Sun Y, Feng Y, Zhang C The effect of bone marrow mononuclear cells on vascularization and bone...

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Ngày tải lên: 13/08/2014, 05:21

... Natonal Academy of Sciences JAMA 1986 ; 255 : 2906 PHỊNG NGỪA VÀ XỬ TRÍ ĐỘT TỬ DO TIM Lợi điểm AEDs triển khai nơi cơng cộng 27 TL : Myerburg RJ, Castellanos A Cardiac Arrest and Sudden Cardiac ... NGỪA VÀ XỬ TRÍ ĐỘT TỬ DO TIM Trình tự đột tử tim TL : Myerburg RJ, Castellanos A Cardiac Arrest and Sudden Cardiac Death In Braunwald’s Heart Disease ; ed by Libby, Borrow, Mann, Zipes Saunders ... : 0,1 – 0,2%/năm • Tổng số ĐTDT/năm : > 300.000 TL : Myerburg RJ, Castellanos A Cardiac Arrest and Sudden Cardiac Death In Braunwald’s Heart Disease ; ed by Libby, Borrow, Mann, Zipes Saunders...

Ngày tải lên: 23/12/2013, 02:19

... P.H Krogh, K.K Brandt, J Sorensen, T Madsen, J Petersen, and C Gron 2003 Recycling of sewage sludge and household compost to arable land: Fate and effects of organic contaminants, and impact on ... USEPA dioxin PRA used the results of 2001 National Sewage Sludge Survey (USEPA, 2002b) to provide distributions of concentrations of dioxin and dibenzofuran congeners and coplanar PCBs Receptors evaluated ... for both adults and children at the 50th percentile, and ϫ 10Ϫ5 and ϫ 10Ϫ5 for adults and children, respectively, at the 95th percentile Most of the risk was attributable to beef and milk ingestion,...

Ngày tải lên: 14/02/2014, 03:20