Abstract:
:Mountain sickness (MS) occurs among humans visiting or inhabiting high altitude environments. We conducted genetic analyses of the AKT3, ANGPTL4, eNOS3 and VEGFA genes in lowland (Han) and highland (Tibetan) Chinese. Ten single nucleotide polymorphisms (SNPs) were evaluated in Han and Tibetan patients with acute (A) and chronic (C) MS. We compared 74 patients with AMS to 79 Han unaffected with MS, as well as 48 CMS patients to 31 unaffected Tibetans. The ten SNPs studied are AKT3 (rs4590656, rs2291409), ANGPTL4 (rs1044250), eNOS3 (rs1007311, rs1799983) and VEGFA (rs79469752, rs13207351, rs28357093, rs1570360, rs3025039). Direct sequencing was used to identify individual genotypes for these SNPs. Hemoglobin (Hb), hematocrit (Hct), and red blood cell count (RBC) were found to be significantly associated with the AKT3 SNP (rs4590656), Hb was found to be associated with the eNOS3 SNP (rs1007311), and RBC was found to be significantly associated with the VEGFA SNP (rs1570360) in Tibetan patients with CMS. CMS patients were found to diverge significantly for both eNOS3 SNPs as measured by genetic distance (0.042, 0.047) and for the VEGFA SNP (rs28357093) with a genetic distance of 0.078 compared to their Tibetan control group. Heart rate (HR) was found to be significantly associated with the eNOS3 SNP (rs1799983) and arterial oxygen saturation of hemoglobin (SaO2) was found to be significantly associated with the VEGFA SNPs (rs13207351, rs1570360) in Han patients with AMS. The Han and Tibetan control groups were found to diverge significantly for the ANGPTL4 SNP and VEGFA SNP (rs28357093), as measured by genetic distances of 0.049 and 0.073, respectively. Seven of the SNPs from non-coding regions are found in the transcriptional factor response elements and their possible role in gene regulation was evaluated with regard to MS. AMS and CMS were found to be significantly associated with the four genes compared to their Han and Tibetan control groups, respectively, indicating that these nucleotide alterations have a physiological effect for the development of high altitude sickness.
journal_name
Int J Hematoljournal_title
International journal of hematologyauthors
Buroker NE,Ning XH,Zhou ZN,Li K,Cen WJ,Wu XF,Zhu WZ,Scott CR,Chen SHdoi
10.1007/s12185-012-1117-7subject
Has Abstractpub_date
2012-08-01 00:00:00pages
200-13issue
2eissn
0925-5710issn
1865-3774journal_volume
96pub_type
杂志文章abstract::We describe 3 unrelated Japanese patients with familial Mediterranean fever (FMF) due to a compound heterozygous E148Q/M694I mutation in the MEFV gene. The first patient is a 38-year-old man who also has chronic myelogenous leukemia (CML). Because genomic DNA analysis of the patient's nail revealed the E148Q/M694I mut...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1532/ijh97.03119
更新日期:2004-04-01 00:00:00
abstract::The treatment outcome of multiple myeloma (MM) is worse than expected from the average numbers of non-synonymous mutations, which are roughly correlated with the prognosis of cancer patients. The refractoriness of MM may be ascribed to the complex genomic architecture and clonal behavior of the disease. In MM, disease...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1007/s12185-020-02829-6
更新日期:2020-04-01 00:00:00
abstract::A 26-year-old female diagnosed as mycosis fungoides (MF, clinical stage IV) was treated with single-agent chemotherapy, multi-drug chemotherapy and unrelated bone marrow transplantation with reduced-intensity conditioning (engraftment failure), resulting in failure. Unrelated cord blood transplantation (CBT) as second...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-008-0190-4
更新日期:2008-12-01 00:00:00
abstract::An inherited antithrombin deficiency is an autosomal dominant thrombotic disorder. We identified two pedigrees of inherited type I antithrombin deficiency and two responsible mutations in each. A novel 21-22delAA appeared to have caused a frameshift with a premature termination at amino acid +63 in one patient and a l...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-010-0763-x
更新日期:2011-02-01 00:00:00
abstract::Allogeneic stem cell transplantation is an established treatment modality for a variety of hematologic malignancies. Unfortunately it carries a high risk of complications and toxicities related to the intensive preparative regimen which is traditionally used for pre-transplant myeloablation and the graft versus host d...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1007/BF03165241
更新日期:2002-08-01 00:00:00
abstract::The XCIND syndrome is named after distinct hypersensitivity to ionizing (X-ray) irradiation, cancer susceptibility, immunodeficiency, neurological abnormality, and double-strand DNA breakage. The disorders comprising XCIND syndrome are usually inherited in an autosomal recessive manner. Ataxia telangiectasia (A-T) is ...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1007/s12185-012-1240-5
更新日期:2013-01-01 00:00:00
abstract::Novel approaches to the treatment of haemophilia are needed due to the limitations of the current standard of care, factor replacement therapy. Aspirations include lessening the treatment burden and effectively preventing joint damage. Treating haemophilia by restoring thrombin generation may be an effective approach....
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1007/s12185-018-2548-6
更新日期:2020-01-01 00:00:00
abstract::We describe a variant form, French-American-British (FAB) M3v, of acute promyelocytic leukemia (APL; FAB M3) with atypical morphocytochemical features, immature antigens (CD34 and HLA-DR) and marked myelofibrosis (MF). Usual APL cells do not express CD34 or HLA-DR antigens. MF may be more frequently observed in patien...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/BF02982068
更新日期:2001-10-01 00:00:00
abstract::We constructed a "biomimetic osteoblast niche" with bio-derived bone as a scaffold, on which we seeded marrow mesenchymal stem cells (MSCs) from CML patients, and induced the MSCs to differentiate into osteoblasts. Bone marrow mononuclear cells from CML patients were cultured in the biomimetic niche (3D culture system...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-009-0392-4
更新日期:2009-10-01 00:00:00
abstract::A pilot phase I/II study was conducted as a single-institute trial for evaluation of the feasibility and efficacy of a new salvage chemotherapy, CHASE, for patients with refractory or relapsed lymphoma . The CHASE regimen, consisting of cyclophosphamide, cytosine arabinoside, etoposide, and dexamethasone, was administ...
journal_title:International journal of hematology
pub_type: 临床试验,杂志文章
doi:10.1007/BF02986620
更新日期:2003-06-01 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::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 acu...
journal_title:International journal of hematology
pub_type: 临床试验,杂志文章
doi:10.1016/s0925-5710(98)00083-8
更新日期:1998-12-01 00:00:00
abstract::We report a patient from an endemic area of adult T-cell leukemia/lymphoma (ATLL), who developed lymphoma with features characteristic of Hodgkin's disease (HD). Large atypical Reed-Sternberg/Hodgkin's cells (RS/H cells) had a CD3-CD15+CD20-CD30+CD45RO- immunophenotype. Epstein-Barr virus (EBV) latent membrane protein...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1016/0925-5710(95)00365-y
更新日期:1995-06-01 00:00:00
abstract::Hemoglobin (Hb) E is the commonest beta-globin variant in Thailand. Other uncommon variants have been rarely reported. We performed direct DNA sequencing of the entire beta-globin gene in cases showing unidentified bands by isolectric focusing electrophoresis or high-performance liquid chromatography. Six different be...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-009-0334-1
更新日期:2009-06-01 00:00:00
abstract::We report a case of primary extramedullary plasmacytoma (PEMP), IgA kappa type, with a long clinical history, in a 64-year-old Japanese woman. In this case, PEMP occurred primarily in the jejunum and then recurred in several organs, specifically the spleen and stomach, and in the subcutaneous tissue, over a period of ...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:
更新日期:1992-10-01 00:00:00
abstract::Interferon regulatory factor-8 (IRF8) is a transcription factor expressed in hematopoietic cells, particularly in mononuclear phagocytes [monocytes/macrophages and dendritic cells (DCs)] and their progenitors. Various studies have demonstrated that IRF8 is essential for the development of monocytes, DCs, eosinophils, ...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1007/s12185-015-1761-9
更新日期:2015-04-01 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::The detection of HIV-1 proviral DNA and genomic RNA was performed by polymerase chain reaction (PCR) in hemophiliacs treated with non-heated clotting factor concentrates. Reamplification with double PCR was performed on those samples that were negative for single PCR. Primer pairs of the gag, env, and pol regions were...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:
更新日期:1993-10-01 00:00:00
abstract::The life expectancy of thalassemic patients has increased, and now approaches that of healthy individuals, thanks to improved treatment regimens. However, pregnancy in women with β-Thalassemia Μajor remains a challenging condition. Recent advances in managing this haemoglobinopathy offer the potential for safe pregnan...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-016-1945-y
更新日期:2016-05-01 00:00:00
abstract::Patients with aggressive adult T-cell leukemia-lymphoma (ATL) have dismal outcomes with intensive chemotherapy. Early up-front allogeneic hematopoietic stem cell transplantation (allo-HSCT) is generally recommended. However, the choice of stem cell source, i.e., unrelated bone marrow transplant (UBMT) or cord blood tr...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-019-02777-w
更新日期:2020-03-01 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::Vincristine-adriamycin-dexamethasone (VAD) regimen with intermittent high-dose dexamethasone (HD) has been used as primary chemotherapy for multiple myeloma (MM) patients who are candidates for high-dose therapy or present with renal failure. However, dexamethasone increases the risk of infection in MM patients. We re...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-010-0735-1
更新日期:2011-01-01 00:00:00
abstract::Thy-1 (CDw90) is a phosphatidylinositol-anchored protein, and is expressed on human pluripotential hematopoietic stem cells. The expression pattern of this antigen on leukemia cells is still controversial. In this study, 72 adult patients with pre-B cell acute lymphoblastic leukemia (pre-B ALL) were examined for the e...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1016/s0925-5710(98)00021-8
更新日期:1998-06-01 00:00:00
abstract::DNA breaks can be induced by exogenous stimuli or by endogenous stress, but are also generated during recombination of V, D, and J genes (V(D)J recombination), immunoglobulin class switch recombination (CSR). Among various DNA breaks generated, DNA double strand break (DSB) is the most deleterious one. DNA damage resp...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1007/s12185-017-2263-8
更新日期:2017-09-01 00:00:00
abstract::Intravenous immunoglobulin (IVIG) therapy has been used for autoimmune diseases and disorders involving autoantibodies, including coagulation inhibitors. In this review, we have evaluated the efficacy and safety of IVIG therapy for acquired coagulation inhibitors, including factor VIII inhibitor, and for acquired von ...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1532/IJH97.06222
更新日期:2007-05-01 00:00:00
abstract::Lymphomas are a heterogeneous group of disease entities with well-defined clinical, morphological, immunophenotypic, and cytogenetic characteristics. Moreover, regional and racial differences have been reported in their incidence and subtype compositions. Here, we reviewed the epidemiology of lymphomas and summarized ...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1007/s12185-018-2403-9
更新日期:2018-04-01 00:00:00
abstract::miR-1 and miR-133 are clustered on the same chromosomal loci and are transcribed together as a single transcript that is positively regulated by ecotropic virus integration site-1 (EVI1). Previously, we described how miR-133 has anti-tumorigenic potential through repression of EVI1 expression. It has also been reporte...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-017-2314-1
更新日期:2017-12-01 00:00:00
abstract::Post-transplant lymphoproliferative disorders (PTLDs) occur in 3.5-9% of patients after pediatric cardiac transplantation. Caution is needed when treating patients with PTLD because of the risk of allograft rejection frequently caused by withdrawal of immunosuppression. In this report, we describe a 47-month-old boy w...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/s12185-008-0250-9
更新日期:2009-03-01 00:00:00
abstract::A 63-year-old man with refractory anemia with excess of blasts in transformation exhibited erythroid hyperplasia, dyserythropoiesis, a del(20q) abnormality, susceptibility to bacterial infections, and a relatively short survival. Phagocytosis of erythrocytes by blast cells was observed. Erythrophagocytosis was also se...
journal_title:International journal of hematology
pub_type: 杂志文章,评审
doi:10.1016/0925-5710(95)00409-2
更新日期:1995-12-01 00:00:00
abstract::The role of reactive oxygen species (ROS) in the cytotoxicity of N-(4-hydroxyphenyl)retinamide (4-HPR) was studied with use of the B-precursor lymphoblastic leukemia cell line YCUB-2. The increase in intracellular ROS measured with 2'-7'-dichlorodihydrofluorescein diacetate after 3 hours' incubation was 3.7-fold with ...
journal_title:International journal of hematology
pub_type: 杂志文章
doi:10.1007/BF02983798
更新日期:2003-10-01 00:00:00