Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002874 (aplastic anemia)
 5,905 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

IgE levels were determined before and serially after allogeneic bone marrow transplantation (BMT) in 12 patients. Six patients had aplastic anemia, four leukemia, and one each Wiskott-Aldrich syndrome and infantile agranulocytosis. IgE levels increased sharply (7- to 2,000-fold) in 10 of the 12 as early as 14 days after BMT. They all returned to baseline levels by 60 days. In six of these patients, the rise accompanied clinical and biochemical evidence of acute graft-versus-host disease (GVHD). All of the patients who received rabbit antihuman thymocytic serum (ATS) in preparation for transplantation and were tested for IgE antirabbit serum antibody by radioallergosorbent test (RAST) (n = 6) developed a strongly positive RAST which paralleled their total IgE levels. These high IgE levels detected during the period of acute GVHD may be a manifestation of a transient lack of suppressor T cell activity.
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PMID:Increased serum immunoglobulin E levels following allogeneic bone marrow transplantation. 699 85

We report a Wiskott-Aldrich patient who underwent allogeneic bone marrow transplantation from his HLA-identical sister at the age of 25. Conditioning regimen consisted of cyclophosphamide (180 mg/kg) and thoraco-abdominal irradiation (6 Grays). Cytogenetic follow-up revealed rapid and complete lymphoid chimaerism, but prolonged mixed bone marrow chimaerism. Correlative interphase cytogenetics performed on bone marrow smears using dual-colour fluorescence in situ hybridization with X and Y specific probes showed that the proportion of donor cells was significantly higher within megakaryocytes than in other lineages. This patient therefore presented with dissociated lineage engraftment, which is not exceptional in congenital diseases and aplastic anaemia, but has not previously been described in Wiskott-Aldrich syndrome. Bone marrow transplantation was successful despite this delayed engraftment which ensured adequate production in the involved cell lines.
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PMID:Direct evidence for dissociated megakaryocytic chimaerism in a Wiskott-Aldrich patient successfully allografted. 779 53

Stem cell transplantations were performed in 69 children at Siriraj Hospital over a ten year period. The source of stem cells was bone marrow (60), peripheral blood (3), or cord blood (6). The diseases treated included 35 thalassemias, 11 Burkitt's lymphoma, five non-Hodgkin's lymphoma, five aplastic anemia, eight acute leukemia, and one each of neuroblastoma, severe combined immunodeficiency, Wiskott-Aldrich syndrome, myelodysplastic syndrome, and pyruvate kinase deficiency. The success rate of stem cell transplantation in Thai children varied according to the underlying diseases of the patients, ranging from 50% in acute leukemia to 100% in aplastic anemia. The outcome of stem cell transplantation in 35 thalassemic children revealed 23 (79.4%) were cured, whereas three (10.3%) remain alive with disease and the other three (10.3%) died. The incidence of graft-versus-host disease was low hen compared with that of Western countries. It is concluded that bone marrow, peripheral blood and cord blood stem cell transplantation will be the treatment of choice and will be widely used in the future to cure many hematologic and malignant disorders in children.
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PMID:Bone marrow, peripheral blood and cord blood stem cell transplantation in children: ten years' experience at Siriraj Hospital. 988 40

From 1986 to June 2000, sixty children suffering from acute and chronic leukemia (n = 42, 33 of which in resistant relapse), genetic diseases (n = 11), aplastic anemia (n = 2, one of which with platelet refractoriness and bleeding), myelodysplasia (n = 5) received an haploidentical bone marrow, mismatched for 2-3 HLA loci. The donor's marrow was treated in vitro with vincristine and methylprednisolone to obtain a functional T depletion (MLC and CTL inhibition, functional blockade of Th1 and Th2). The prevalence of infectious complications and GVHD was similar to that recorded in matched unrelated donor (MUD) transplants. In situations of high risk of rejection (chronic leukemia, genetic diseases) we infused immediately one half of the harvest and then frozen aliquots from the second week. Of the 25 ALL and 8 AML in resistant relapse, 3 survived, disease-free at 14, 8 and 1 years respectively. Of the 3 ALL, transplanted during remission, 1 is surviving at 18 months. Of the 6 CML, 1 had fractionated bone marrow and is surviving at 3 years, and 5 had standard single dose infusion and died of progression of their disease after rejection of the graft (4) or blast crisis after complete engraftment (1). The 2 patients with aplastic anemia, those with myelodysplasia, and 6 of the 10 with genetic disorders died of transplant-related complications or disease progression. 4 patients with osteopetrosis (n = 2), MLD (n = 1), Wiskott Aldrich dis. (n = 1) survive at 8, 2, 5 and 1.5 years respectively. In patients transplanted with fractionated marrow GVHD > 2nd grade occurred in 15%. Only one patient rejected the graft. Compared with MUD transplantation, mismatched BMT whenever performed in patients in good conditions provides similar outcome and widens the donor availability.
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PMID:Haploidentical bone marrow transplantation in leukemia and genetic diseases. 1126 22

This review summarizes the biology of thrombopoietin (TPO) in childhood. Studies on TPO and its receptor (c-mpl) have improved the understanding of inherited and acquired thrombocytopenias in childhood. Data are presented in this review regarding the molecular biology of TPO, differences in cellular effects on megakaryopoiesis, the regulation of TPO production, and TPO concentrations in health and disease. For neonatal thrombocytopenia, the focus is on early-onset thrombocytopenia associated with maternal diabetes, pregnancy-induced hypertension, intrauterine growth retardation, hypoxia, and sepsis. Fetal alloimmune thrombocytopenia allows insight into the biology of TPO when fetal megakaryopoiesis is chronically stimulated. In the thrombocytopenia absent radii syndrome and congenital amegakaryocytic thrombocytopenia, thrombocytopenia is caused by a disorder in the signal transduction at the c-mpl level and respectively directly on c-mpl. TPO concentrations in other inherited thrombocytopenias such as Fanconi anemia, Shwachman syndrome, Wiskott-Aldrich syndrome, and Bernard-Soulier syndrome are discussed. For acquired thrombocytopenias, data on TPO in aplastic anemia, immune thrombocytopenia, human immunodeficiency virus infection, and liver disease are given. Possible indications for a treatment with recombinant TPO in childhood are discussed, but the criteria to identify patients who would benefit need detailed evaluation.
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PMID:Thrombopoietin in thrombocytopenias of childhood. 1144 55

The results for 49 patients with hematologic and non malignancies who were subjected to a cord blood transplantation from HLA-mismatched unrelated donors (UCBT) are presented here. This retrospective study included 22 patients with acute lymphoblastic leukemia, 12 with acute myelogenous leukemia, one each with chronic myelogenous leukemia, refractory anemia with myelodysplastic syndrome, and juvenile myelomonocytic leukemia, three with Wistott-Aldrich syndrome, three with adrenoleukodystrophy, two with Hunter's syndrome, one each with Hurler's syndrome, purine nucleotide phosphorylase deficiency, pure red cell aplasia, and severe aplastic anemia. In malignant diseases, the Kaplan-Meier estimates for three-year overall survival (OAS) and event-free survival (EFS) were 51.9 +/- 17.8, and 51.4 +/- 17.8%, respectively. In patients with non malignant disease, the Kaplan-Meier estimates for three-year OAS and EFS were 64.2 +/- 28.8, and 37.5 +/- 29.4%, respectively. In patients with malignancy, the HLA disparity had no effect on OAS, EFS, incidence of acute graft-versus-host disease, or engraftment. On the other hand, for engraftment, the use of UCBT from HLA-mismatched unrelated donors may require a larger study in patients with non-malignant diseases.
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PMID:Cord blood transplantation from HLA-mismatched unrelated donors. 1214 82

The aim of this study was to investigate the extent and the clinical implications of mixed chimerism in megakaryocytes after stem cell transplantation (SCT). Polymerase chain reaction analyzing allele length polymorphisms was used to determine the origin of immunomagnetically isolated megakaryocytes and leukocyte subpopulations after SCT in 13 children. Eleven were unselected consecutive cases while two were included due to known leukocyte mixed chimerism. Recipient DNA was detected in the megakaryocytes in six out of the 11 cases at levels between 1 and 100%. Coinciding mixed chimerism in the leukocyte populations was detected in two of the 11 cases. Of the two selected cases with known leukocyte mixed chimerism, two boys with aplastic anemia and Wiskott-Aldrich syndrome had 1-5 and 70% recipient megakaryocytes, respectively. Although the four relapses or deaths, within the 13 months of observation, were restricted to patients with multilineage or isolated megakaryocyte (n = 1) mixed chimerism, it was not possible to link any other apparent clinical problems, except a prolonged thrombocytopenia in one case, to the mixed chimerism in this limited study group.
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PMID:Megakaryocyte chimerism after allogeneic stem cell transplantation in children. 1258 25

There have been many recent advances in our understanding of the molecular basis of neutropenia disorders, primarily through advances in genetic analysis of inherited disorders. Molecular and cellular studies now suggest that accelerated apoptosis of neutrophil precursors in the bone marrow is the common pathophysiologic mechanism. Severe congenital neutropenia and cyclic neutropenia, both usually inherited as autosomal-dominant disorders, are caused by mutations in the neutrophil elastase gene. Myelokathexis is attributed to the downregulation of the bcl-x protein, but the genetic basis is not yet known. The genes for several diseases with more complex phenotypes (eg, glycogen storage disease type 1b, Chediak-Higashi syndrome, Shwachman-Diamond syndrome, dyskeratosis congenita, Griscelli syndrome, Barth syndrome, and Wiskott-Aldrich syndrome) have all been identified recently. The molecular mechanisms for most acquired disorders causing neutropenia (eg, idiopathic neutropenia, pure white-cell aplasia, myelodysplasia, and aplastic anemia) are not yet known. Granulocyte colony stimulating factor (G-CSF) is effective treatment for several of these conditions. Through better understanding of these disorders, we anticipate that better treatments will be found in the future.
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PMID:Molecular basis and therapy of disorders associated with chronic neutropenia. 1290 73

Bloodstream infection (BSI) is a recognized cause of morbidity and mortality in children after hematopoietic stem cell transplantation (HSCT). However, there are limited reports on BSI after HSCT in pediatric patients in multiple centers. This study was a retrospective cohort analysis of consecutive patients who underwent allogeneic and autologous HSCT at the Department of Paediatrics, Hokkaido University Hospital, between 1988 and 2009; the Department of Paediatrics, Sapporo Hokuyu Hospital, between 2007 and 2009; and the Department of Paediatrics, Asahikawa Medical University, between 1989 and 2009. A total of 277 patients underwent HSCT during the study period. In this multicenter analysis, cases of BSI after HSCT were recorded in the early posttransplant period (within the first 100 d), and BSI was observed in 24 of 277 HSCT patients. Multivariate analysis showed that nonmalignant disease was an independent factor associated with BSI after HSCT (hazard ratio 6.3 for aplastic anemia or Wiskott-Aldrich syndrome patients; confidence interval, 1.4-12.8; P = 0.012). We conclude that aplastic anemia and Wiskott-Aldrich syndrome were the novel risk factors for BSI in pediatric patients after HSCT.
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PMID:Risk factor analysis of bloodstream infection in pediatric patients after hematopoietic stem cell transplantation. 2299 26


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