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Hematology AND Aplastic anemia [keywords]
- First-Line Immunosuppressive Treatment in Children with Aplastic Anemia: Rabbit Antithymocyte Globulin. [JOURNAL ARTICLE]
- Adv Exp Med Biol 2014 Oct 14.
Immunosuppressive therapy is the treatment of choice in children with acquired severe aplastic anemia (AA) and no HLA-matched family donor. The paper presents results of a multicenter study of 63 children with AA treated with rabbit antithymocyte globulin (r-ATG) and cyclosporine A as the first line treatment in the years 1996-2012. Therapeutic effects were evaluated at Days 112, 180, and 360. At Day 112, remission was achieved in 28 out of the 63 patients (44.4 %), complete remission in 10 patients (15.9 %), and partial remission in 18 (28.5 %). At Day 180, 31 patients (49.2 %) were in remission including 15 cases in complete (23.8 %), and 16 cases in partial remission (25.4 %). One year after therapy onset, 34 patients (64.9 %) were in remission including 24 patients (38.0 %) in complete and 10 (15.9 %) in partial remission. Relapse occurred in 4 patients, from 8 months up to 2 years and 2 months after remission. One child, 5 years after remission, was diagnosed with paroxysmal nocturnal hemoglobinuria. The estimated 10-year overall survival rate and 10-year event-free survival rate were 67 % and 57 %, respectively.
- Diagnostic value of bone marrow aspiration and biopsy in routine hematology practice. [Journal Article]
- J Clin Diagn Res 2014 Aug; 8(8):FC13-6.
The bone marrow is frequently involved in variety of cases presenting with hematological and non-hematological disorders, which are diagnosed by two separate but interrelated techniques such as bone marrow aspiration (BMA) and bone marrow biopsy (BMB).This study was aimed to assess the diagnostic value of the BMA and BMB and role of both the procedures to reach final diagnosis when done simultaneously.It was a prospective study. The findings of BMA smears were correlated with BMB sections and data obtained was analysed.BMA and BMB were performed on 50 patients. Criteria of inclusion included the main indications for performing this procedure, the availability of full medical records and patient consent. The patients had a male to female sex ratio of 1.6:1 and a wide age range from 4 years to 74 years.In the present study, the main indications for bone marrow examination were categorized. Out of 50 cases studied, in 23 cases, a strong positive correlation between BMA and BMB was noted. However, it was found that in the cases of aplastic anaemia, different phases of myeloproliferative neoplasm (MPN), multiple myeloma, tubercular granulomas and hemato-lymphoid neoplasm, involvement of the marrow was detected better in bone marrow biopsies.The study concludes that preparations of aspirate and trephine biopsy are easy, rapid and complementary to each other in majority of the lesions. The advantage of both the procedures done together enabled us to study the cytomorphology of the cells along with the pattern of distribution of the cells depending on the cases, hence help in making the diagnosis accurately.
- Diagnostic and management dilemma of a pancreas-kidney transplant recipient with aplastic anaemia. [JOURNAL ARTICLE]
- BMJ Case Rep 2014.
We report a case of a 57-year-old woman with type I diabetes who had received a simultaneous pancreas-kidney (SPK) transplant maintained on tacrolimus, mycophenolic acid (MPA) and prednisolone. Her renal allograft failed 6 years post-transplant but she continued to have a normal functioning pancreatic allograft. Over the course of 5 years, she developed progressive bone marrow failure with repeat bone marrow aspirates demonstrating an evolution from erythroid hypoplasia to hypocellular marrow and eventual aplastic anaemia despite discontinuation of MPA and reduction of tacrolimus. She was transfusion-dependent and had frequent admissions for sepsis. Despite treatment with antithymocyte globulin and cyclosporine for aplastic anaemia, she developed fatal invasive pulmonary aspergillosis within 3 weeks of treatment. Even though the cause of aplastic anaemia is likely multifactorial, this case highlights the difficulty in balancing the need for versus the risk of ongoing immunosuppression in a SPK transplant recipient who continues to have normal pancreatic graft function.
- Efficacy and safety of immunosuppressive therapy in the treatment of seronegative hepatitis associated aplastic anemia. [Journal Article]
- Drug Des Devel Ther 2014.:1299-305.
To investigate the clinical characteristics of seronegative hepatitis-associated aplastic anemia (AA) (SNHAA) and hepatitis B virus (HBV) infection complicating AA (HBVAA), and thereby compare the efficacy of immunosuppressive therapy (IST).An analysis was conducted on the clinical data of ten patients with SNHAA out of 332 cases of AA from our center at AA diagnosis, and on the efficacy of IST. This was compared to 22 cases of HBVAA at AA onset as well as the associated IST outcomes.Nine patients with SNHAA developed severe aplastic anemia, with a median age of 18 years. After IST, six (60%) of the SNHAA patients achieved complete remission and two achieved partial remission. The patients with HBVAA had a total response rate of 82.3%. The disease recurred in two HBVAA patients. No statistically significant differences were observed in response rate, mortality, and recurrence rate between both groups. As compared with HBVAA, patients with SNHAA had a shorter interval from the acute episode of hepatitis to AA onset (4 months versus 92 months, P=0.00), a quicker response to IST (2.5 months versus 4.5 months, P=0.018), a lower proportion of bone marrow hematopoietic tissues (20.6% versus 23.6%, P=0.03), and lower white blood cell and absolute neutrophil count (0.8×10(9)/L versus 1.23×10(9)/L and 0.26×10(9)/L versus 0.58×10(9)/L, P=0.026 and P=0.0009, respectively). No significant liver damage or hepatitis B fulminant infection was observed in either group during the follow-up.The prevalence of SNHAA is 3.01%. SNHAA often presents as severe AA and responds to IST quickly. Neither hepatitis prior to AA nor AA complicating HBV infection have been shown to influence the early efficacy of IST and adverse events, and HBV may not be the causative agent of AA.
- [A case of umbilical cord blood transplantation combined with mesenchymal stem cell treat severe aplastic anemia]. [Journal Article]
- Zhonghua Xue Ye Xue Za Zhi 2014 Sep; 35(9):860-1.
- Bone marrow failure and the telomeropathies. [JOURNAL ARTICLE]
- Blood 2014 Sep 18.
Our understanding of the pathophysiology of aplastic anemia is undergoing significant revision, with implications for diagnosis and treatment. Constitutional and acquired disease is not so clearly delineated, as lesions in some genetic pathways cause stereotypical childhood syndromes and also act as risk factors for development of clinical manifestations in adult life. Dyskeratosis congenita and the telomere diseases are a prominent example of this relationship. Accelerated telomere attrition is the result of mutations in telomere repair genes and in genes encoding components of the shelterin complex and related proteins. Genotype-phenotype correlations show genes responsible for X-linked (DKC1) and severe recessive childhood dyskeratosis congenita (NOP10, TINF), typically with associated mucocutaneous features, and others (TERC, TERT) for more subtle presentation as telomeropathy in adults, in which multiorgan failure may be prominent. Telomerase mutations also are etiologic in familial pulmonary fibrosis and cryptic liver disease. Detection of a telomere disease requires awareness in the clinic, appropriate laboratory testing of telomere content, and genetic sequencing. In treatment decisions, genetic screening of related donors for hematopoietic stem cell transplantation is critical, and androgen therapy may be helpful. Telomeres shorten normally with aging as well as under environmental circumstances with regenerative stress and oxidative damage. Telomere biology is complexly related to oncogenesis: telomere attrition is protective by enforcing senescence or apoptosis in cells with a long mitotic history, but telomere loss also can destabilize the genome by chromosome re-arrangement and aneuploidy. Basic laboratory experiments, animal models, genome wide surveys, clinical studies of specific diseases, and population-based epidemiology link accelerated telomere attrition and cancer, including in constitutional and acquired aplastic anemia.
- Manifestations of Fulminant CD8 T-cell Post-transplant Lymphoproliferative Disorder Following the Administration of Rituximab for Lymphadenopathy with a High Level of Epstein-Barr Virus (EBV) Replication after Allogeneic Hematopoietic Stem Cell Transplantation. [Journal Article]
- Intern Med 2014; 53(18):2115-9.
We herein report the case of a 22-year-old woman with severe aplastic anemia who underwent allogeneic hematopoietic stem cell transplantation (HSCT). After HSCT, the Epstein-Barr virus (EBV)-DNA load in the peripheral blood gradually increased, and the patient presented with a fever and lymphadenopathy on day 56 post-HSCT. Although we administered rituximab, her clinical condition worsened. After rituximab treatment, CD8 T-cells emerged and became dominant in the peripheral blood, some of which were positive on an EBV-specific tetramer analysis. However, an open biopsy of the lymphadenopathy lesions revealed the CD8 T-cells to be infected with EBV, exhibiting proliferation with oligoclonality. The patient ultimately died of multiple organ failure on day 99 post-HSCT.
- Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. [JOURNAL ARTICLE]
- Blood 2014 Sep 9.
Telomerase is a ribonucleoprotein enzyme that is necessary for overcoming telomere shortening in human germ and stem cells. Mutations in telomerase or other telomere-maintenance proteins can lead to diseases characterized by depletion of hematopoietic stem cells and bone marrow failure. Telomerase localization to telomeres requires an interaction with a region on the surface of the telomere-binding protein TPP1 known as the TEL patch. Here we identify a family with aplastic anemia and other related hematopoietic disorders, in which a one amino acid deletion in the TEL patch of TPP1 (ΔK170) segregates with disease. All family members carrying this mutation, but not those with wild-type TPP1, have short telomeres. When introduced into 293T cells, TPP1 with the ΔK170 mutation is able to localize to telomeres but fails to recruit telomerase to telomeres, supporting a causal relationship between this TPP1 mutation and bone marrow disorders. ACD/TPP1 is thus a newly-identified telomere-related gene in which mutations cause aplastic anemia and related bone marrow failure disorders.
- Allogeneic hematopoietic stem cell transplantation as the first-line treatment option in a patient with severe aplastic anemia without a matched related donor: A case report. [JOURNAL ARTICLE]
- Oncol Lett 2014 Oct; 8(4):1831-1833.
The outcomes of matched unrelated donor (MUD) hematopoietic stem cell transplantation (HSCT) and immunosuppressive therapy (IST) in patients with severe aplastic anemia (SAA) remain controversial. The clinical outcome in patients that undergo transplantation following failed IST is typically poorer when compared with patients that initially underwent transplantation. Clinical treatment algorithms have been proposed to determine the management of such patients, and account for individual conditions, personal preferences and prognostic risk factors. The present study reports the promising outcome of a 22-year-old patient exhibiting SAA. The patient underwent peripheral blood stem cell transplantation (PBSCT) from an MUD using a fludarabine-based conditioning regimen and low-dose total body irradiation as an alternative method to first-line IST. The patient achieved rapid bone marrow reconstitution and has been in complete remission for 32 months. The aim of the fludarabine-based conditioning regimen with PBSCT was to improve the patient's therapeutic outcome and provide a convenient treatment strategy. Furthermore, this regimen extends the application of HSCT to patients who are older or those that are without a matched related donor.