Abstract：
:Familial thrombosis has long been considered as an autosomal dominant trait, caused by a dominant gene defect with a reduced penetrance for the disease. Recently, this view has changed and today familial thrombophilia is considered as a complex genetic disorder caused by the segregation of two or more gene defects (known and unknown) in a family. Here we briefly discuss the known genetic defects (protein C, protein S, and antithrombin deficiency and activated protein C resistance associated with factor V Leiden) with special focus on the relation between gene mutation and plasma abnormality and on the association between abnormality and thrombosis in affected families and in the population. Finally, the evidence is reviewed that indicates familial thrombosis as an oligogenetic disorder and on the basis of these data strategies are discussed for the identification of new genetic risk factors for thrombosis via a genetic approach.
journal_name
Semin Hematoljournal_title
Seminars in hematologyauthors
Koeleman BP,Reitsma PH,Bertina RMsubject
Has Abstractpub_date
1997-07-01 00:00:00pages
256-64issue
3eissn
0037-1963issn
1532-8686journal_volume
34pub_type
杂志文章,评审abstract：:Gene expression profiling of cancer began as a research tool but is rapidly moving towards clinical application. The diagnostic category of diffuse large B-cell lymphoma (DLBCL) can now be viewed as an amalgam of several different diseases that have distinct gene expression profiles, oncogenic mechanisms, and clinical...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1016/s0037-1963(03)00194-x
更新日期：2003-10-01 00:00:00
abstract：:Mantle-cell lymphoma (MCL) is a lymphoproliferative disorder derived from a subset of naive pregerminal center cells characterized by a nodular or diffuse proliferation of atypical lymphoid cells with a monoclonal B-cell phenotype and coexpression of CD5. Two cytologic variants have been identified, typical and blasti...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：
更新日期：1999-04-01 00:00:00
abstract：:A number of human disorders, dubbed ribosomopathies, are linked to impaired ribosome biogenesis or function. These include but are not limited to Diamond Blackfan anemia (DBA), Shwachman Diamond syndrome (SDS), and the 5q- myelodysplastic syndrome (MDS). This review focuses on the latter two non-DBA disorders of ribos...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2011.01.002
更新日期：2011-04-01 00:00:00
abstract：:Chronic immune thrombocytopenic purpura (ITP) is an autoimmune disorder in which the patient's immune system reacts with a platelet autoantigen(s) resulting in thrombocytopenia due to immune-mediated platelet destruction and/or suppression of platelet production. Platelet membrane proteins, for reasons that are unclea...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2007.11.002
更新日期：2007-10-01 00:00:00
abstract：:Hydroxyurea (HU) is the first widely used treatment to have an impact on the severity of disease in adult patients with sickle cell anemia, but limited data are available for younger patients or those with variant genotypes. We reviewed 324 months of experience with HU in 16 patients from 5.3 to 18.4 years of age trea...
journal_title：Seminars in hematology
pub_type： 临床试验,杂志文章
doi：
更新日期：1997-07-01 00:00:00
abstract：:The molecular causes of hereditary spherocytosis (HS) have been unraveled in the past decade. No frequent defect is found, and nearly every family has a unique mutation. In dominant HS, nonsense and frameshift mutations of ankyrin, band 3, and beta-spectrin predominate. Recessive HS is most often due to compound heter...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2004.01.002
更新日期：2004-04-01 00:00:00
abstract：:Thrombocytopenia is one of the most common reasons for inpatient hematology consultations. The main challenges in the management of hospitalized patients with thrombocytopenia are to identify the underlying cause and to recognize when urgent interventions are required. Examination of the blood film is essential in the...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2011.08.002
更新日期：2011-10-01 00:00:00
abstract：:Although often overlooked, the life of the patient with severe hemophilia is characterized by both intermittent and chronic pain. Bleeds into joints and muscles cause extensive pressure on sensory nerves and, following recurrent bleeds, joint destruction, and synovial reaction is accompanied by constant pains that are...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2005.11.024
更新日期：2006-01-01 00:00:00
abstract：:These two issues of the Seminars in Hematology will provide the physician the necessary knowledge to help make sense of this somewhat confusing array of diseases. The subdivisions of MDS reflect the precision of our techniques of dissection, with morphological and histochemical analyses forming the foundation to ident...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：
更新日期：1996-04-01 00:00:00
abstract：:Analysis of data from 806 patients with newly diagnosed adult acute myelocytic leukemia (AML) (not including acute promyelocytic leukemia [APL] patients) treated at M.D. Anderson Cancer Center from 1995 through 1999 indicated that among patients entering a particular week of induction therapy, mortality rates were 6%,...
journal_title：Seminars in hematology
pub_type： 杂志文章
doi：10.1016/s0037-1963(01)90042-3
更新日期：2001-10-01 00:00:00
abstract：:The activation, function, and development of peripheral T lymphocytes are dependent on the ability to signal properly through the surface T-cell antigen receptor (TCR)-CD3 complex. Transmission of such signals requires the activation of specific cytoplasmic protein tyrosine kinases (PTK) associated with the TCR. Recen...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：
更新日期：1998-10-01 00:00:00
abstract：:Trauma is rapidly replacing stroke and cardiovascular disease as a leading cause of death in Western countries such as the United States, and almost a third (30%) of trauma deaths are due to blood loss. Although the new intervention strategies that have been developed and adopted by emergency care staff have reduced t...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2003.11.009
更新日期：2004-01-01 00:00:00
abstract：:Purine analogues have been shown to be active in a variety of B- and T-cell malignancies. Among them, pentostatin is also a tight binding inhibitor of adenosine deaminase (ADA), a key enzyme of purine metabolism. ADA is present in all human tissues, with the highest levels in the lymphoid system. Early clinical trials...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2005.12.005
更新日期：2006-04-01 00:00:00
abstract：:Activation products of the terminal complement cascade potently affect granulocyte function, inducing, for example, their migration toward (chemotaxis), and adherence to (opsonization), microbes, and stimulating their production of microbicidal oxygen radicals such as superoxide anion, and the like. We present studies...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：
更新日期：1979-04-01 00:00:00
abstract：:Continuous daily treatment with all-trans-retinoic acid (ATRA) in patients with acute promyelocytic leukemia has been associated with a marked decline in the plasma drug concentration at the time of relapse. Recent pharmacologic studies have attempted to determine the reasons for the progressive reduction of plasma co...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：
更新日期：1994-10-01 00:00:00
abstract：:Traditionally, acute myeloid leukemia (AML) has been diagnosed and classified based on the morphologic and cytochemical criteria of the French-American-British (FAB) classification system. However, more recent studies have demonstrated that the cytogenetic and molecular genetic abnormalities consistently associated wi...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：
更新日期：1999-10-01 00:00:00
abstract：:Chronic myeloid leukemia (CML) is probably the best understood human malignancy at the molecular level, but among the hardest to explain to patients concerning appropriate treatment options. At present, we do not know the long-term outcome of promising new therapies such as the tyrosine kinase inhibitor imatinib mesyl...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1016/s0037-1963(01)90116-7
更新日期：2001-07-01 00:00:00
abstract：:The antiviral and antigrowth activity of interferon (IFN) makes this agent a promising approach to cancer therapy. Three tumors that are unusually sensitive to IFN-a are chronic myelogenous leukemia (CML) in the benign phase, hairy-cell leukemia, and the T-cell lymphomas associated with mycosis fungoides. Studies usin...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：
更新日期：1988-07-01 00:00:00
abstract：:Idiopathic thrombocytopenic purpura (ITP) is an illness of primary acquired thrombocytopenia occurring in the absence of marrow failure. Splenectomy was first used as a treatment for ITP in 1913. However, with the realization that opsonin (critical for the optimal killing of invasive micro-organisms by white blood cel...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1016/s0037-1963(00)90114-8
更新日期：2000-01-01 00:00:00
abstract：:For the majority of hematologic malignancies allogeneic hematopoietic cell transplantation (HCT) is the only curative treatment option. Sibling donors have been the standard for adult patients. Since there is not a suitable family donor for all patients, the need for alternative donors for HCT is great. Fortunately, t...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2016.01.009
更新日期：2016-04-01 00:00:00
abstract：:Even though the overall outcome after allogeneic transplant has improved significantly in the last decades, late infectious diseases are still the most important causes of late morbidity and mortality. Here, impaired immune reconstitution and therapy of chronic graft-versus-host disease (GVHD) represent the major risk...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2011.10.009
更新日期：2012-01-01 00:00:00
abstract：:There are now more than 25 million volunteer donors registered worldwide for patients in need of a life-saving hematopoietic cell transplant to cure blood disorders. Although a human leukocyte antigen (HLA)-matched donor remains the preferred stem cell source for transplantation, the use of a donor with limited HLA mi...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2016.07.003
更新日期：2016-10-01 00:00:00
abstract：:This phase I trial of idarubicin (IDA) was conducted in 32 patients with acute leukemia and chronic myelogenous leukemia (CML) in blastic crisis (CML/BC) who either had failed to achieve a complete remission (CR) after initial induction therapy or had relapsed after CR. IDA was administered at dosages ranging from an ...
journal_title：Seminars in hematology
pub_type： 临床试验,杂志文章,评审
doi：
更新日期：1996-10-01 00:00:00
abstract：:Large scale sequencing projects over the past 2 decades have led to the identification of many common genomic alterations in hematolymphoid neoplasms, some of which with diagnostic, therapeutic, and prognostic implications [1-3]. Although these alterations can be tested individually with high sensitivity and specifici...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2018.05.006
更新日期：2019-01-01 00:00:00
abstract：:The central hypothesis of our laboratory research program in large granular lymphocyte (LGL) leukemia is that leukemic LGL represent antigen-driven cytotoxic T lymphocytes (CTL) with characteristics of dysregulated apoptosis. The clinical features of LGL leukemia highlight the association of autoimmune diseases such a...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1016/s0037-1963(03)00135-5
更新日期：2003-07-01 00:00:00
abstract：:Immune thrombocytopenia (ITP) is a bleeding disorder characterized by low platelet counts due to decreased platelet production as well as increased platelet destruction by autoimmune mechanisms. A shift toward Th1 and possibly Th17 cells together with impaired regulatory compartment, including T-regulatory (Tregs) and...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2013.03.011
更新日期：2013-01-01 00:00:00
abstract：:Myelodysplastic syndromes (MDS) are clonal hematologic disorders characterized by ineffective hematopoiesis resulting in peripheral cytopenia and by increased progression to acute myelocytic leukemia (AML). With the exception of allogeneic stem cell transplantation, there is generally no curative treatment for these d...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2004.02.002
更新日期：2004-04-01 00:00:00
abstract：:Shwachman-Diamond syndrome (SDS) is an autosomal recessive marrow failure syndrome associated with exocrine pancreatic insufficiency and leukemia predisposition. Bone marrow failure typically manifests with neutropenia, but anemia, thrombocytopenia, or aplastic anemia may also develop. Additional organ systems, such a...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/j.seminhematol.2006.04.006
更新日期：2006-07-01 00:00:00
abstract：:Autologous hematopoietic stem cell transplantation (HSCT) has a long tradition in Europe. Initially developed as a tool to restore rapid remission or chronic phase in patients with advanced leukemia without a sibling donor, it evolved over the last three decades to be used as a standard tool in patients with malignanc...
journal_title：Seminars in hematology
pub_type： 历史文章,杂志文章
doi：10.1053/j.seminhematol.2007.09.001
更新日期：2007-10-01 00:00:00
abstract：:High-dose chemoradiotherapy with allogeneic bone marrow or peripheral blood stem cell transplantation (SCT) is a potentially curative treatment for advanced or poor-prognosis hematological malignancies. This procedure was initially considered as a means to deliver supralethal doses of chemotherapy and radiation for th...
journal_title：Seminars in hematology
pub_type： 杂志文章,评审
doi：10.1053/shem.2002.30909
更新日期：2002-01-01 00:00:00
