Abstract：
:Autosomal recessive "malignant" osteopetrosis is a rare congenital disorder relating to bone resorption abnormalities. It is believed to arise due to the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and, clinically, to the signs and symptoms of bone marrow failure. Impaired bone remodeling associated with dysregulated activity of osteoclasts for such a condition may typically result in bony narrowing of the cranial nerve foramina, which typically results in cranial nerve (especially optic nerve) compression. Abnormal remodeling of primary woven bone to lamellar bone results in "brittle" bone that is prone to fracture. Thus, fractures, visual impairment, and bone marrow failure are the classical features of this disease. We describe the case of a 23-day-old boy in whom neonatal hypocalcemia was present initially after birth. Malignant infantile osteopetrosis (MIO) was diagnosed for the patient at 4 months of age based on evidence of anemia, thrombocytopenia, leukoerythroblastosis, sclerotic bone, hepatosplenomegaly, and visual deficit from a bony encroachment by the cranial nerve foramina. Although only occasionally reported previously, MIO remains essentially unrecognized by clinicians as a cause of neonatal hypocalcemia, which often results in diagnostic confusion and delay. This is important in the context of curative hemopoietic stem cell transplantation where preservation of sight may depend upon early intervention.
journal_name
Ann Hematoljournal_title
Annals of hematologyauthors
Chen CJ,Lee MY,Hsu ML,Lien SH,Cheng SNdoi
10.1007/s00277-002-0578-9subject
Has Abstractpub_date
2003-01-01 00:00:00pages
64-7issue
1eissn
0939-5555issn
1432-0584journal_volume
82pub_type
杂志文章,评审abstract：:Established risk factors for thrombosis in essential thrombocythemia (ET) include age (≥ 60 years) and previous vascular events. Recently, also leukocytosis has been proposed in risk stratification of ET patients. We report a retrospective study on 532 ET patients followed for a median of 7.6 years. Sixty-four patient...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s00277-010-1154-3
更新日期：2011-08-01 00:00:00
abstract：:The general impact of blood donation on iron status was studied in a population survey comprising 1359 nonpregnant Danish women in age cohorts of 30, 40, 50, and 60 years; 809 were premenopausal and 550 postmenopausal; 180 (13%) were blood donors. Iron stores were assessed by serum (S)-ferritin and hemoglobin (Hb). Hb...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/BF01714957
更新日期：1991-07-01 00:00:00
abstract：:Paul Kaznelson is credited with describing the first case of pure red cell aplasia. He was also known for his contribution to the discovery of the therapeutic role of splenectomy in idiopathic thrombocytopenic purpura. Most of his academic works appeared in 1910s and 1920s, when he used to work in Karl-Ferdinand Unive...
journal_title：Annals of hematology
pub_type： 传,历史文章,杂志文章
doi：10.1007/s00277-008-0553-1
更新日期：2008-11-01 00:00:00
abstract：:The relationship between Epstein-Barr virus (EBV) and the host is profoundly disturbed by allogeneic bone marrow transplantation (BMT) because EBV resides in the recipient's hematopoietic system, which has to be destroyed in the majority of cases, and in the donor's hematopoietic system, i.e., the marrow graft. We hav...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/BF01715373
更新日期：1992-06-01 00:00:00
abstract：:We recently reported that IgM antibody-related microparticles exist in some patients with idiopathic thrombocytopenic purpura (ITP) [14]. In this study, we investigated the relationship between antiphospholipid (cardiolipin and phosphatidylinositol) antibodies and microparticles in 56 ITP patients. We used an ELISA to...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/BF01715126
更新日期：1992-07-01 00:00:00
abstract：:A 64-year-old woman with adult T cell leukemia (ATL) was admitted to our hospital with severe hypercalcemia. The serum calcium level was elevated to 14.9 mg/dl. Biochemical parameters for bone formation including serum osteocalcin (bone Gla protein, BGP) and alkaline phosphatase (ALP) were normal. The serum levels of ...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s002770100305
更新日期：2001-07-01 00:00:00
abstract：:Although B chronic lymphocytic leukemia (B-CLL) cells express the alpha chain of the interleukin-2 (IL-2) receptor CD25, little is known about the effect of IL-2 on apoptosis in B-CLL cells. We have shown previously that stimulation of B-CLL cells with a CpG-oligonucleotide induces IL-2 high affinity receptors. In our...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s00277-010-0994-1
更新日期：2010-11-01 00:00:00
abstract：:Anthracyclines are a major component in the therapy of non-Hodgkin's lymphoma. However, due to their cardiac toxicity potential, curative and palliative treatment is often limited in patients with preexisting cardiac dysfunction. Liposomal doxorubicin formulations have been described to be less cardiotoxic than conven...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s00277-011-1308-y
更新日期：2012-03-01 00:00:00
abstract：:Bortezomib synergizes with melphalan in preclinical and early clinical studies. Updated data from our phase 1/2 study assessing the safety and efficacy of bortezomib plus melphalan in relapsed/refractory multiple myeloma (MM) are presented. Bortezomib (0.7, 1.0, or 1.3 mg/m(2)) on days 1, 4, 8, and 11 and oral melphal...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s00277-008-0501-0
更新日期：2008-08-01 00:00:00
abstract：:The general objective of this study was to evaluate the risks of agranulocytosis and aplastic anemia in relation to drug use. Other potential risk factors, including history of infectious mononucleosis, were also evaluated. In an international population-based case-control study, cases of agranulocytosis and aplastic ...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/BF01695866
更新日期：1993-10-01 00:00:00
abstract：:Recent developments in the field of targeted therapy have led to the discovery of a new drug, plerixafor, that is a specific inhibitor of the CXCR4 receptor. Plerixafor acts in concert with granulocyte colony-stimulating factor (G-CSF) to increase the number of stem cells circulating in the peripheral blood (PB). Ther...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s00277-010-1098-7
更新日期：2011-05-01 00:00:00
abstract：:Transplantation of peripheral blood stem cells (PBSC), positively and/or negatively selected immediately after harvest, has become a widely applied therapeutic option in hematological or oncological patients. The following case of peripheral blood stem cell transplantation represents the first case of successful trans...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s002770000243
更新日期：2001-02-01 00:00:00
abstract：:We monitored platelet activation by means of P-selectin and platelet monocyte aggregates (PMA) and platelet function by whole blood multiple electrode aggregometry and platelet adhesion under high shear in chronic immune thrombocytopenia patients to define changes in platelet activation during treatment with eltrombop...
journal_title：Annals of hematology
pub_type： 杂志文章,随机对照试验
doi：10.1007/s00277-011-1249-5
更新日期：2012-01-01 00:00:00
abstract：:There is little information about cardiovascular adverse event (CV-AE) incidence in chronic myeloid leukemia (CML) patients treated with bosutinib in the real-life practice. We identified 54 consecutive CML patients treated with bosutinib, stratified according to the Systematic Coronary Risk Evaluation (SCORE) assessm...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s00277-019-03705-y
更新日期：2019-08-01 00:00:00
abstract：:Genetic and morphological markers are well-established prognostic factors in acute myeloid leukemia (AML). However, further reliable markers are urgently needed to improve risk stratification in AML. CD318 (CDCP1) is a transmembrane protein which in solid tumors promotes formation of metastasis and correlates with poo...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s00277-020-03907-9
更新日期：2020-03-01 00:00:00
abstract：:We report a factor X (FX)-deficient Chinese family with two novel FX gene (F10) mutations. Two sibling probands had a bleeding tendency since childhood. Both had very low FX:C (<0.01 IU/ml) and FX:Ag (5-6%) levels and were heterozygous for two novel F10 mutations, a 2-bp GC deletion involving nucleotides 33 and 34, le...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s00277-003-0803-1
更新日期：2004-05-01 00:00:00
abstract：:The prognostic impact of extramedullary plasmacytomas (EMPs) on newly diagnosed symptomatic multiple myeloma (MM) was evaluated in the context of treatment approach including autologous stem cell transplantation (ASCT) and chemotherapy alone. A total of 275 consecutive patients with newly diagnosed MM were included, a...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s00277-014-2216-8
更新日期：2015-03-01 00:00:00
abstract：:Mixed phenotype acute leukemia (MPAL) is a rare type of leukemia with a limited number of studies conducted to characterize its clinical spectrum and most importantly the best treatment modality. MPAL blasts show more than one phenotype either myeloid/monocytic with T- or B-lymphoid or extremely rare triple lineage as...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s00277-020-04354-2
更新日期：2020-11-23 00:00:00
abstract：:The B cell surface antigen CD19 is a target for treating B cell malignancies, such as B cell precursor acute lymphoblastic leukemia and B cell non-Hodgkin lymphoma. The BiTE® immuno-oncology platform includes blinatumomab, which is approved for relapsed/refractory B cell precursor acute lymphoblastic leukemia and B ce...
journal_title：Annals of hematology
pub_type： 杂志文章,评审
doi：10.1007/s00277-020-04221-0
更新日期：2020-10-01 00:00:00
abstract：:Aberrant promoter methylation of RASSF6 and RASSF10 occurs at a high frequency in acute lymphoblastic leukemia (ALL). Because of the complexity of the current minimal residual disease (MRD) detecting-methods, the DNA methylation status of the RASSF6 and RASSF10 genes could potentially become biomarkers for the assessm...
journal_title：Annals of hematology
pub_type： 临床试验,杂志文章
doi：10.1007/s00277-019-03775-y
更新日期：2019-12-01 00:00:00
abstract：:Pre-engraftment syndrome (PES) is a condition occurring after umbilical cord blood transplantation (UCBT) characterized by fever and erythematous skin rash prior to neutrophil engraftment. We sought to determine the incidence and characterize the pulmonary manifestations of PES. A retrospective review of patients who ...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s00277-013-1981-0
更新日期：2014-05-01 00:00:00
abstract：:To investigate whether cytokine genetic polymorphisms influence the outcome of diffuse large B cell lymphoma (DLBCL), we tested 337 consecutive DLBCL treated with CHOP or rituximab-CHOP (R-CHOP) from interleukin 10 (IL10), Bcl-2, and tumor necrosis factor (TNF)-α polymorphisms. Patients who carried the IL10 rs1800871 ...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s00277-016-2857-x
更新日期：2017-02-01 00:00:00
abstract：:In this retrospective study, we evaluated the clinical features and the effects of various treatment modalities on the clinical course in patients diagnosed with idiopathic thrombocytopenic purpura (ITP) at our center between 1984-2000. We retrospectively examined the medical records of 321 (229 females, 92 males) ITP...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s00277-002-0488-x
更新日期：2002-08-01 00:00:00
abstract：:Umbilical cord blood is capable of hematopoietic stem cell reconstitution in children. However, the major limitation of cord blood is a relatively low content of pluripotent progenitor cells. Thus, safe engraftment for adolescents and for adults is still not predictable and a technology for ex vivo expansion of umbili...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s002770050530
更新日期：1999-08-01 00:00:00
abstract：:Recently, the combination of rituximab and bendamustine (R-Benda) has been defined as highly active in patients with follicular lymphomas, but little is known about the efficacy of R-Benda in mucosa-associated lymphoid tissue (MALT) lymphoma. In a retrospective analysis, we have defined 14 patients with MALT lymphoma ...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s00277-013-1865-3
更新日期：2014-02-01 00:00:00
abstract：:Mesenchymal stem cells (MSCs) have emerged as a therapeutic approach in a range of medical fields, including regenerative medicine, cancer, autoimmune diseases, and inflammatory diseases, because of their unique properties of tissue repair and major histocompatibility complex-unmatched immunosuppression. Because both ...
journal_title：Annals of hematology
pub_type： 杂志文章,评审
doi：10.1007/s00277-013-1796-z
更新日期：2013-10-01 00:00:00
abstract：:Although the outcome of patients with acute myeloid leukemia (AML) has improved by optimized chemotherapy regimens and bone marrow transplantation, leukemia relapse remains one of the most challenging problems during therapy. Sustained existence of AML blasts is a fundamental determinant for the development of leukemi...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s00277-016-2913-6
更新日期：2017-04-01 00:00:00
abstract：:Bortezomib is one of the most widely used novel drugs for the treatment of multiple myeloma (MM). However, twice-weekly intravenous administration is associated with innegligible adverse events and treatment discontinuation. We therefore evaluated the long-term efficacy and feasibility of reduced frequency treatment w...
journal_title：Annals of hematology
pub_type： 杂志文章,多中心研究
doi：10.1007/s00277-016-2661-7
更新日期：2016-05-01 00:00:00
abstract：:We analyzed the prognostic factors for a successful mobilization and peripheral blood stem cell collection in a series of 57 consecutive patients with multiple myeloma (MM); a new scoring system to predict an adequate mobilization in this subset of patients was also constructed. A total of 221 aphereses were performed...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s002770100351
更新日期：2001-10-01 00:00:00
abstract：:The aim of the present study was to investigate the prevalence of chronic idiopathic neutropenia of adults (CINA) among an apparently healthy population born and living on the island of Crete. The study was carried out with 778 subjects, 392 men aged 16-78 years (median 43 years) and 386 women aged 15-79 years (median...
journal_title：Annals of hematology
pub_type： 杂志文章
doi：10.1007/s002770050518
更新日期：1999-07-01 00:00:00
