Abstract:
:Sitosterolemia (phytosterolemia) is a rare inherited sterol storage disorder, characterized by significantly elevated plasma levels of plant sterols. The clinical features of sitosterolemia are xanthomas, premature atherosclerosis, arthritis, and, occasionally, liver function impair and hematologic abnormalities. This disorder is caused by mutations of ABCG5/ABCG8 genes. We report here the clinical, laboratory, and molecular genetic features of 13 patients with sitosterolemia from eight unrelated families who had specific hematologic problems of macrothrombocytopenia, hemolytic anemia, and splenomegaly besides the major clinical manifestations. The peripheral blood films showed some unique features: large platelets surrounded by a circle of vacuoles, and various abnormal erythrocyte shapes, especially stomatocyte. According to these distinct changes of blood cell morphology, we identified two sitosterolemia patients who lacked the classical clinical phenomena. All the patients had been misdiagnosed with immune thrombocytopenia (ITP), Evans syndrome, or secondary ITP with delay being 28.8 years between symptom onset and correct diagnosis. These results indicate that sitosterolemia is certainly not as rare as originally thought. The phenomena of macrothrombocytopenia/hemolysis might represent a new platelet disorder. Plasma plant sterols and ABCG5/ABCG8 genes should be analyzed when such hematologic abnormalities are unexplained.
journal_name
Am J Hematoljournal_title
American journal of hematologyauthors
Wang Z,Cao L,Su Y,Wang G,Wang R,Yu Z,Bai X,Ruan Cdoi
10.1002/ajh.23619subject
Has Abstractpub_date
2014-03-01 00:00:00pages
320-4issue
3eissn
0361-8609issn
1096-8652journal_volume
89pub_type
杂志文章abstract:DISEASE OVERVIEW:Cutaneous T-cell lymphomas are a heterogenous group of T-cell lymphoproliferative disorders involving the skin, the majority of which may be classified as Mycosis Fungoides (MF) or Sézary Syndrome (SS). DIAGNOSIS:The diagnosis of MF or SS requires the integration of clinical and histopathologic data. ...
journal_title:American journal of hematology
pub_type: 杂志文章,评审
doi:10.1002/ajh.23756
更新日期:2014-08-01 00:00:00
abstract::Intravenous (IV) granulocyte colony stimulating factor (G-CSF) might be safer and more convenient than subcutaneous (SC) administration to hospitalized hemato-oncological patients receiving chemotherapy. To compare IV vs. SC G-CSF administration, we conducted a randomized, open-label trial. We included inpatients rece...
journal_title:American journal of hematology
pub_type: 杂志文章,随机对照试验
doi:10.1002/ajh.23622
更新日期:2014-03-01 00:00:00
abstract::Cultured endothelial cells from bovine aorta were exposed to oxidized low density lipoprotein and examined by electron microscopy. The endothelial cells contracted slightly and the intercellular junctions became unclear. Some osmiophilic material increased in the cytoplasm. The oxidized low density lipoprotein appears...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830490315
更新日期:1995-07-01 00:00:00
abstract::Clinical trials in hemostasis and thrombosis (HT) are needed to guide medical practice and future research. Providing public support for trials that could have the greatest impact on clinical care has been a major challenge. The National Heart, Lung and Blood Institute (NHLBI) convened a State-of-the-Science meeting i...
journal_title:American journal of hematology
pub_type:
doi:10.1002/ajh.22225
更新日期:2012-02-01 00:00:00
abstract::Sickle cell disease (SCD) nephropathy and lower estimated glomerular filtration rate (eGFR) are risk factors for early mortality. Furthermore, rate of eGFR decline predicts progression to end-stage renal disease in many clinical settings. However, factors predicting renal function decline in SCD are poorly documented....
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.25263
更新日期:2018-12-01 00:00:00
abstract::Mutations at positions beta IVS1-6, beta IVS1-110, and beta 39 of the beta globin gene are responsible for the three most common thalassemic genes in the Mediterranean population. The polymerase chain reaction (PCR) was employed to amplify a 536 base pair segment surrounding this region. Nonradioactive labelling of an...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830340213
更新日期:1990-06-01 00:00:00
abstract::The recent progress in sensitive KIT D816V mutation analysis suggests that mutation analysis of peripheral blood (PB) represents a promising diagnostic test in mastocytosis. However, there is a need for systematic assessment of the analytical sensitivity and specificity of the approach in order to establish its value ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.23672
更新日期:2014-05-01 00:00:00
abstract::Increasing dose intensity (DI) of chemotherapy for patients with aggressive non-Hodgkin lymphoma (NHL) may improve outcomes at the cost of increased toxicity. This issue was addressed in a randomized trial aiming to double the DI of myelosuppressive drugs. Between 1994 and 1999, 250 patients with previously untreated ...
journal_title:American journal of hematology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1002/ajh.23684
更新日期:2014-05-01 00:00:00
abstract::Seven normal human peripheral blood cell fractions (buffy coat, mononuclear cells, non-T, T, Fc-IgM receptor-depleted T-lymphocyte, Fc-IgG receptor-depleted T-lymphocyte, and autologous rosette-forming T-cell-depleted T-lymphocyte subpopulations) treated with phytohemagglutinin (PHA) were examined for the production o...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830200306
更新日期:1985-11-01 00:00:00
abstract::Selective labeling of phagocytes in human blood can be achieved by incubation of unseparated, heparinized blood with 99mTc-sulfur colloid. We have developed a method for quantitation of granulocyte chemotaxis using granulocytes labeled by this technique. The method was found to be more accurate and less tedious to per...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830030402
更新日期:1977-01-01 00:00:00
abstract:BACKGROUND:The histopathologic features characterizing the involvement of the bone marrow (BM) in systemic lupus erythematosus (SLE) have not been systematically analyzed to date. OBJECTIVES:The aim of this study was to assess morphologic and immunohistochemical characteristics of BM involvement in SLE. PATIENTS AND ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.20593
更新日期:2006-08-01 00:00:00
abstract::One of the more intriguing aspects of the spleen is the protection against certain bacterial infections afforded by its unique vascular and immune function. There have been extensive clinical surveys which indicate an incidence of overwhelming postsplenectomy infection (OPSI) above that of the disease for which the sp...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830020210
更新日期:1977-01-01 00:00:00
abstract::Chronic myeloid leukemia (CML) is considered to be a pleuripotential stem cell disorder with the capacity to differentiate into myeloid, erythroid, megakaryocytic, and lymphoid cell lines. Consequently, blast crisis (BC) involving each of the above lineages has been well described. Among lymphoblastic crises, differen...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830360204
更新日期:1991-02-01 00:00:00
abstract::Most reports of prognosis and therapy in diffuse small non-cleaved cell lymphoma (DSNCL), an aggressive high-grade non-Hodgkin's lymphoma (NHL) which appears to be of two histopathologic subtypes, have included predominantly a pediatric population and very few adults. We studied 20 newly diagnosed, previously untreate...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830460408
更新日期:1994-08-01 00:00:00
abstract::Ticlopidine-induced aplastic anemia (TIAA) is considered very uncommon. We present two new cases, and we review 55 additional cases from the literature. The first case concerns a 70-year-old man who developed severe aplastic anemia 7 weeks after treatment with 500 mg of ticlopidine daily. The patient sustained a sever...
journal_title:American journal of hematology
pub_type: 杂志文章,meta分析,评审
doi:10.1002/ajh.10150
更新日期:2002-09-01 00:00:00
abstract::In this study, we examined differences in inpatient costs, length of stay, and in-hospital mortality between hospitalizations for patients with and without sickle cell disease (SCD) undergoing high-volume surgical procedures. We used Clinical Classification Software (CCS) codes to identify discharges in the 2002-2005 ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.21520
更新日期:2009-11-01 00:00:00
abstract::We have characterized another subset of acute nonlymphocytic leukemia (ANLL) based on the cytogenetic and morphologic findings in a group of nine patients. Five patients had chromosomal analyses performed at the University of Chicago, two patients were studied at the All-Union Cancer Research Center in Moscow, and one...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830180409
更新日期:1985-04-01 00:00:00
abstract::A patient with congenital protein-C deficiency was treated with stanozolol for 8 weeks to increase circulating levels of protein C. A rise in protein C was achieved, accompanied by an increase in factor II, factor X, antithrombin III, and protein S; but at the 8th week the patient suffered a transient ischemia attack....
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830290211
更新日期:1988-10-01 00:00:00
abstract::Achievement of a complete response has been associated with improved outcomes in patients with multiple myeloma. Recently, increasing application of minimal residual disease (MRD) assessment has shown that MRD negativity is a powerful prognostic factor for survival outcomes. We wanted to examine the impact of the poly...
journal_title:American journal of hematology
pub_type: 临床试验,杂志文章
doi:10.1002/ajh.25481
更新日期:2019-07-01 00:00:00
abstract::Fetal calf serum (FCS) is used as a component of the media for cells grown in culture. However, the high cost of FCS has stimulated a search for a possible alternative. Approximately 10% of human platelet concentrates prepared for clinical transfusions are outdated. Sera prepared from platelet concentrates were compar...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830170104
更新日期:1984-07-01 00:00:00
abstract::The effect of the synthetic vasopressin derivative 1-desamino-8D-arginine vasopressin (DDAVP = desmopressin) on bleeding time was studied in three patients with Hermansky Pudlak syndrome. A good response was observed in this type of storage pool disease. DDAVP might be useful in managing the bleeding disorder found in...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830300307
更新日期:1989-03-01 00:00:00
abstract::Primary systemic light-chain (AL) amyloidosis a disorder characterized by accumulation of monoclonal light chains as aggregated amyloid fibrils in tissues of multiple organs to cause organ dysfunction and death (Kyle and Gertz, Semin Hematol 1995;32:45-59; Merlini and Bellotti, N Engl J Med 2003;349:583-596). Although...
journal_title:American journal of hematology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1002/ajh.23333
更新日期:2013-01-01 00:00:00
abstract::Several histone deacetylase inhibitors (HDACi), including vorinostat, have been approved for the therapy of cutaneous T-cell lymphoma (CTCL). Emerging data suggest that HDACi may exert immune suppressive effects which would be disadvantageous for therapy of CTCL. We describe a patient with Sezary syndrome who was moni...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.22231
更新日期:2012-02-01 00:00:00
abstract::Secondary acute myeloid leukemia (sAML) traditionally has inferior outcomes compared to de novo AML. Allogeneic hematopoietic cell transplantation (HCT) is the sole potentially curative therapy. This study analyzes the outcomes for unmanipulated haploidentical HCT (haploHCT) for sAML using the Acute Leukemia Working P...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.25087
更新日期:2018-06-01 00:00:00
abstract::Despite substantial progress in the treatment of AML, a proportion of patients do not achieve first complete remission (1(st) CR) with the induction chemotherapy, and, among patients achieving it, a majority is expected to relapse within three years. As allogeneic hematopoietic stem cell transplantation has been estab...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.21906
更新日期:2011-02-01 00:00:00
abstract::In polycythemia vera (PV), treatment with chlorambucil and radioactive phosphorus (p32) increases the risk of leukemic transformation from 1% to 13-14%. This risk has been estimated to be 1-5.9% with hydroxyurea (HU) therapy. When compared with historical controls, the risk with use of HU does not appear to be statist...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/(SICI)1096-8652(199605)52:1<42::AID-AJH7>3
更新日期:1996-05-01 00:00:00
abstract::Relapsed or refractory acute myeloid leukemia (R/R AML) has a poor prognosis and is best treated with salvage chemotherapy as a bridge to allogeneic stem cell transplant (alloSCT). However, the optimal salvage therapy remains unknown. Here we compared two salvage regimens; mitoxantrone, etoposide, and cytarabine (MEC)...
journal_title:American journal of hematology
pub_type: 杂志文章,多中心研究
doi:10.1002/ajh.25838
更新日期:2020-08-01 00:00:00
abstract::A case of idiopathic myelofibrosis (IMF) presenting with hypercalcemia and hypercalcitriolemia is reported. It is proposed that ectopic production of the active vitamin D metabolite related to ongoing clonal expansion in the bone marrow accounts for the hypercalcemic state. Consistently low levels of circulating type ...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830390316
更新日期:1992-03-01 00:00:00
abstract::The intravascular pool of human polymorphonuclear leukocytes (PMN) is composed of one compartment which is circulating and another that is marginated to the vascular endothelium. Administration of B-adrenergic agonists leads to a rapid demargination with an increase in the circulating PMN pool. The marginating PMN has...
journal_title:American journal of hematology
pub_type: 杂志文章
doi:10.1002/ajh.2830240107
更新日期:1987-01-01 00:00:00
abstract::Fifty-six adult patients with newly diagnosed acquired severe aplastic anemia (SAA) received horse antilymphocyte globulin (ALG), cyclosporin A (CyA), methylprednisolone (Mpred), granulocyte colony-stimulating factor (G-CSF) as first-line therapy. The median age was 34 (range, 17-72) and median neutrophil count 0.280 ...
journal_title:American journal of hematology
pub_type: 临床试验,杂志文章
doi:10.1002/ajh.20954
更新日期:2007-09-01 00:00:00