Abstract:
:Dyskeratosis congenita (DC) is an inherited disease associated with nail dystrophy, abnormal skin pigmentation, oral leukoplakia, bone marrow failure and a predisposition to cancer. DC is a disease of defective telomere maintenance and patients with DC have very short telomeres. To date, mutations in six genes of telomerase and telomere components have been identified in patients with DC. Recently, mutations in telomerase and telomere components were also identified in patients with aplastic anemia, pulmonary fibrosis, and liver diseases who did not have mucocutaneous manifestations. These findings imply that defective telomere maintenance may cause not only classical DC but also a broad spectrum of diseases previously thought to be idiopathic, and have led to a new concept of diseases, termed "syndromes of telomere shortening". An understanding of the role of telomeres in these diseases is indispensable for diagnosis, genetic counseling and clinical management.
journal_name
Int J Hematoljournal_title
International journal of hematologyauthors
Nishio N,Kojima Sdoi
10.1007/s12185-010-0695-5subject
Has Abstractpub_date
2010-10-01 00:00:00pages
419-24issue
3eissn
0925-5710issn
1865-3774journal_volume
92pub_type
杂志文章,评审abstract::A 74-year-old female with seropositive rheumatoid arthritis developed severe bone marrow failure after the treatment with very low-dose methotrexate (5 mg/week for 3 weeks). Hematological data showed severe pancytopenia with 0% neutrophils and bone marrow disclosed thoroughly hypocellular marrow. Shortly after the tre...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1016/s0925-5710(96)00549-x
更新日期:1997-02-01 00:00:00
abstract::To elucidate the relationship between treatment with granulocyte colony-stimulating factor (G-CSF) and the development of chromosomal abnormalities and clonal evolution in adult aplastic anemia (AA) patients, we performed a prospective multicenter study. Of the 104 registered patients, 91 were found by the central rev...
journal_title:International journal of hematology
pub_type: 临床试验,杂志文章,多中心研究
doi:
更新日期:2003-02-01 00:00:00
abstract::This study aimed at assessing the relationship between thrombosis, hyperhomocysteinemia and vitamin B12 deficiency using a case-control study carried out in 326 patients with thrombosis (case group) and 351 patients from the same hospital (control group). Apart from the classic risk factors, a number of hematological ...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-011-0825-8
更新日期:2011-04-01 00:00:00
abstract::Previous studies have suggested that an increase in mitochondrial reactive oxygen species may cause organ damage in patients with light-chain (AL) amyloidosis; however, this damage can be decreased by antioxidant-agent treatment. Epigallocatechin gallate (EGCG), the major natural catechin in green tea, has potent anti...
journal_title:International journal of hematology
pub_type: 杂志文章,随机对照试验
doi:10.1007/s12185-016-2112-1
更新日期:2017-03-01 00:00:00
abstract::The present study (ClinicalTrials.gov Identifier: NCT02221492) was conducted to assess the efficacy and safety of plerixafor for the mobilization and collection of haematopoietic stem cells (HSCs) for autologous transplantation in Japanese non-Hodgkin lymphoma (NHL) patients. In this randomized phase 2 study, patients...
journal_title:International journal of hematology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1007/s12185-018-2505-4
更新日期:2018-11-01 00:00:00
abstract::We report a case of HIV-negative Burkitt lymphoma (BL) that relapsed 9 years after complete remission. We performed a polymerase chain reaction analysis of three regions of the VDJ junction of the immunoglobulin heavy chain (IGH) gene and compared the clonality of the first and second BL lesions, which were found to b...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-014-1729-1
更新日期:2015-05-01 00:00:00
abstract::We report a patient with Ph1-positive acute lymphoblastic leukemia (ALL) having i(17q) in whom bony lesions were the initial clinical manifestation. The patient was a 53-year-old male who began to have pains in his left hip early in March 1985. Relevant findings on admission included: WBC 21,300/microliters; blast cel...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:
更新日期:1991-06-01 00:00:00
abstract::Pediatric patients with acute myeloid leukemia (AML) are at high risk of invasive fungal infection (IFI). In adult patients, the D-index, which reflects the duration and intensity of neutropenia, was reported as a predictive factor of IFI after induction therapy for AML. The aim of this study was to assess whether the...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-018-2433-3
更新日期:2018-07-01 00:00:00
abstract::We describe a patient with Philadelphia chromosome (Ph)-positive chronic myelogenous leukemia (CML) who developed an extramedullary blast crisis in the central nervous system (CNS) and then a subcutaneous tumor of the neck during treatment with imatinib mesylate. Administered 400 mg of imatinib mesylate after the diag...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1532/IJH97.04188
更新日期:2005-05-01 00:00:00
abstract::Numerous studies have demonstrated that microRNA-21 (miR-21), as an oncogene, is involved in the occurrence of many types of tumor and the sensitivity of tumor cells to chemotherapeutic drugs. In the present study, we investigated whether miR-21 is involved in regulating the sensitivity of the diffuse large B-cell lym...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-012-1256-x
更新日期:2013-02-01 00:00:00
abstract::We have demonstrated that adipose tissue-derived mesenchymal stem cells (ADSCs) from mice are capable of reconstituting the hematopoietic microenvironment, and facilitate hematopoiesis more effectively than bone marrow-derived mesenchymal stem cells (BMSCs) in mouse. The ready accessibility of fat tissue rich in MSCs ...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-012-1140-8
更新日期:2012-09-01 00:00:00
abstract::Bleeding is reportedly one of the major causes of death in patients with chronic neutrophilic leukemia (CNL), but thrombocytopenia, abnormal platelet functions, or coagulopathy has been confirmed to be the cause of the bleeding tendency in only a small proportion of the patients. We report the case of a 49-year-old wo...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/BF02982088
更新日期:2001-12-01 00:00:00
abstract::Myeloid/NK cell precursor lymphoma/leukemia has been suggested to be of precursor NK origin. We report a 1-year-old boy with myeloid/NK cell precursor lymphoma/leukemia who presented with a skin nodule. Biopsy of the skin nodule specimen revealed CD45(+), CD56(+), myeloid antigen(+), CD7(-), CD3(-), CD19(-), CD34(-), ...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-010-0504-1
更新日期:2010-04-01 00:00:00
abstract::A 68-year-old female was diagnosed with acute myeloid leukemia (AML-M2 without 8/21 translocation) in December 2006. Although a complete remission (CR) was obtained after induction chemotherapy, the first post-remission therapy was discontinued because of severe cardiovascular complications. She had a relapse of AML w...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-013-1481-y
更新日期:2014-02-01 00:00:00
abstract::In this study, tetramethylpyrazine (TMPZ) was effective in reducing the mortality of ADP-induced acute pulmonary thromboembolism in mice when administered intravenously at doses of 40 and 80 microg/g. In addition, intravenous injection of TMPZ (10 microg/g) significantly prolonged the bleeding time by approximately 1....
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/BF02981969
更新日期:2001-04-01 00:00:00
abstract::Natural killer (NK)/T-cell lymphoma associated with Epstein-Barr virus (EBV) in a patient infected with human immunodeficiency virus (HIV) is very rare. The authors encountered a case of NK/T-cell lymphoma in a 36-year-old man who presented with an ulcerative mass on both tonsils. During assessment, HIV positivity was...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1532/ijh97.a10316
更新日期:2004-06-01 00:00:00
abstract::High-dose melphalan followed by autologous hematopoietic stem cell transplantation (ASCT) is a standard treatment for younger myeloma patients. However, the correlation between its toxicity and renal impairment is not clear. We analyzed this relationship, focusing on estimated glomerular filtration rate (eGFR) as an i...
journal_title:International journal of hematology
pub_type: 临床试验,杂志文章
doi:10.1007/s12185-018-2507-2
更新日期:2018-10-01 00:00:00
abstract::In an attempt to assess the effects and toxicity of brief induction chemotherapy plus involved-field irradiation for localized intermediate- and high-grade non-Hodgkin's lymphoma, we conducted a single-arm prospective trial between May 1987 and July 1991. Patients received four cycles of a five-drug chemotherapy regim...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:
更新日期:1993-01-01 00:00:00
abstract::The present study was performed to examine whether the expression of CD64 Fc gamma receptor type I (FcgammaRI) on both neutrophils and monocytes can be modulated by multiple daily administrations of granulocyte colony-stimulating factor (G-CSF) to patients with non-Hodgkin's lymphoma in neutropenia caused by CHOP (cyc...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/BF02983535
更新日期:2004-01-01 00:00:00
abstract::Paroxysmal nocturnal hemoglobinuria is a rare acquired stem cell disorder characterized by intravascular hemolysis, aplasia and an increased risk of thrombosis. We describe a patient under treatment with the anti-complement antibody eculizumab who developed pancytopenia, requiring blood transfusions, due to massive sp...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-013-1454-1
更新日期:2013-12-01 00:00:00
abstract::The occurrence of adenopathy in patients with myelodysplastic syndrome-associated extramedullary myeloid cell tumors has rarely been reported. We describe a 7-year-old girl with juvenile myelomonocytic leukemia who showed the novel chromosomal abnormality t(9;12)(p22;q24.1) and who developed severe adenopathy of the c...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1532/ijh97.04040
更新日期:2004-08-01 00:00:00
abstract::African Burkitt lymphomas (BL) are highly aggressive lymphomas mainly affecting children and young adults in Africa. This lymphoma was marked by its high sensitivity to chemotherapy in comparison to Sporadic Burkitt lymphoma. In this study, we evaluated the treatment response and survival of patients with CMA protocol...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-010-0591-z
更新日期:2010-06-01 00:00:00
abstract::Chromosomal translocations are one of the hallmarks of human leukemias. These structural abnormalities result in the generation of genetic mutations that play a direct role in the transformation of hematopoietic stem cells. Some of the most common targets of these chromosomal rearrangements are the genes that encode t...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1007/BF02982058
更新日期:2001-10-01 00:00:00
abstract::Autoimmune hemolytic anemia (AIHA) is a rare comorbidity in colorectal cancer (CRC) and has an unknown etiology. Previously, we described an AIHA case secondary to CRC with ectopic band 3 expression. Herein, we investigated ectopic band 3 expression and erythrocyte membrane-bound IgG in a CRC cohort. Between September...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-020-02831-y
更新日期:2020-05-01 00:00:00
abstract::Several clinical trials have demonstrated the effectiveness of bortezomib in combination with various anti-myeloma agents; however, no definitive information is available regarding drugs best suited for use in combination with bortezomib. Using isobologram analysis, we investigated the combined effects of bortezomib w...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-014-1573-3
更新日期:2014-06-01 00:00:00
abstract::The central pathogenic feature of thrombotic thrombocytopenic purpura/hemolytic uremic syndrome (TTP/HUS) is the formation of platelet aggregates, perhaps by damaged endothelial cells. The evidence for endothelial cell damage has been supported by multiple findings, including the harmful effects of TTP/HUS plasma, whi...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:
更新日期:2000-06-01 00:00:00
abstract::APOBEC3G has been identified as an anti-human immunodeficiency virus type 1 (HIV-1) host factor that belongs to the APOBEC superfamily of cytidine deaminases. It deaminates cytidine to uridine in nascent minus-strand viral DNA, inducing G-to-A hypermutation in the plus-strand DNA of HIV-1. The accumulating evidence de...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1532/IJH97.05187
更新日期:2006-04-01 00:00:00
abstract::Systemic fungal infections remain a major clinical problem in immunocompromised patients. Presumed systemic fungal infections (PSFI) are treated empirically with an intravenous antifungal agent to reduce the occurrence of documented infections and associated mortality. The objective of this study was to compare the co...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1532/IJH97.A30504
更新日期:2005-10-01 00:00:00
abstract::Patients with mild/moderate hemophilia (H)A, acquired HA (AHA) and lupus anticoagulants (LA), have prolonged aPTTs with low levels of factor (F)VIII activity, but the differentiation of these disorders is complex and time consuming. We established an approach to quickly differentiate these disorders using comprehensiv...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-016-2108-x
更新日期:2017-02-01 00:00:00
abstract::A patient with chronic myelogenous leukemia (CML) in chronic phase (CP) had been treated with a syngeneic bone marrow transplantation (BMT). Cytogenetic remission was confirmed 3 months later. One year after transplantation, hematological remission persisted while cytogenetic analysis revealed a recurrence of Philadel...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1016/0925-5710(96)00486-0
更新日期:1996-10-01 00:00:00