Abstract：
:Gaucher disease was first described by Philippe Gaucher in his 1882 medical thesis. Gaucher's original concept was of an unusual epithelioma of the spleen. By the early 1900s, Mandelbaum recognized the systemic nature of the disease. Several children with Gaucher disease were described at the turn of the century, but Rusca described a rapidly progressive fatal neurodegenerative type of disease, i.e. type 2, in the 1920s. The 'juvenile' form (type 3) of the disease was described in Sweden in the 1950s. In 1965, the deficient enzyme, acid beta-glucosidase, was discovered and the lysosomal nature of the disease was elucidated. Currently, three variants of Gaucher disease have been defined clinically and are distinguished by the presence and severity of neuronopathic involvement (Table 1). Each of these clinical types has substantial phenotypic variation, but types 1 and 3 have significantly heterogeneous rates of disease progression and degrees of visceral organs involvement. The neuronopathic involvement in type 3 also has substantial variation in the age of onset and disease progression even within relatively isolated communities. An extensive review of the clinical and pathologic involvement by Gaucher disease is available.
journal_name
Blood Revjournal_title
Blood reviewsauthors
Grabowski GA,Leslie N,Wenstrup Rdoi
10.1016/s0268-960x(98)90023-6subject
Has Abstractpub_date
1998-06-01 00:00:00pages
115-33issue
2eissn
0268-960Xissn
1532-1681pii
S0268-960X(98)90023-6journal_volume
12pub_type
杂志文章,评审相关文献
BLOOD REVIEWS文献大全abstract：:Extramedullary disease of multiple myeloma (EM) remains a treatment challenge even in the era of new drugs. While many reports analyzing various aspects of EM have been published, mechanism of EM development has not been clarified yet. This review summarizes current knowledge about this clinical entity, including its ...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/j.blre.2019.04.002
更新日期：2019-07-01 00:00:00
abstract：:Inherited hemoglobin-related disorders, which include the structural variants (hemoglobin S, C, and E) and the alpha (α)- and beta (β)-thalassemias, affect more than 300,000 children annually, particularly in malaria-endemic regions stretching from sub-Saharan Africa and the Mediterranean to Southeast Asia. Screening ...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/S0268-960X(12)70003-6
更新日期：2012-04-01 00:00:00
abstract：:Current trends in the treatment of patients with Stages I and II Hodgkin's disease are discussed in this review. Recommendations for staging procedures and the updated staging classification are described. Long-term results with extended field radiation therapy overall and in subgroups of patients are detailed. As fol...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/0268-960x(93)90022-v
更新日期：1993-03-01 00:00:00
abstract：:Erythropoiesis is a dynamic process regulated at multiple levels to balance proliferation, differentiation and survival of erythroid progenitors. Ineffective erythropoiesis is a key feature of various diseases, including β-thalassemia. The pathogenic mechanisms leading to ineffective erythropoiesis are complex and sti...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/j.blre.2017.10.001
更新日期：2018-03-01 00:00:00
abstract：:Hemophilia A is an X-linked hereditary bleeding disorder due to the deficiency of coagulation factor VIII (FVIII). According to the degree of FVIII deficiency, mild, moderate or severe forms are recognized. Although patients with mild hemophilia A usually bleed excessively only after trauma or surgery, those with seve...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/j.blre.2013.06.002
更新日期：2013-07-01 00:00:00
abstract：:Laboratory and clinical data relating to the use of 2'-deoxycoformycin in human disease are reviewed. Pentostatin is an inhibitor of adenosine deaminase, an enzyme that is important for purine metabolism, but more than one mechanism may be involved in its cytotoxic action. Early studies with dCF employed large doses a...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/0268-960x(87)90004-x
更新日期：1987-06-01 00:00:00
abstract：:Splenomegaly is a feature of a broad range of diseases, and presents to clinicians in many fields. This review examines the aetiology of splenomegaly in the developed world, and describes a logical approach to the patient with splenomegaly. In some patients, extensive radiological and laboratory investigations will fa...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/j.blre.2008.10.001
更新日期：2009-05-01 00:00:00
abstract：:A strong association was found to exist between patterns of lymphoid malignancies and socioeconomic status. B-cell lymphomas and T-acute lymphoblastic leukemia are much more prevalent in developing countries where the chances of acquiring infections especially at a younger age are high. B-cell precursor acute lymphati...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/s0268-960x(96)90037-5
更新日期：1996-06-01 00:00:00
abstract：:A moderate reduction of plasma antithrombin activity is an uncommon but clinically important cause of severe thromboembolic disease. In recent years the molecule responsible for the major part of this activity (antithrombin III) has been extensively characterised and the mode of inheritance of familial deficiencies wo...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/0268-960x(88)90013-6
更新日期：1988-12-01 00:00:00
abstract：:Parenteral arsenic trioxide (ATO) has been firmly established as a standard therapy for acute promyelocytic leukemia (APL). Despite widespread use of oral arsenicals in medicine historically, they had disappeared from modern pharmacopeia until oral ATO was redeveloped in Hong Kong in 2000. Since then, over 200 patient...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/j.blre.2015.11.004
更新日期：2016-05-01 00:00:00
abstract：:Advances in therapy can essentially be measured using two parameters; introduction of a new agent which benefits an increased number of patients over prevailing treatments or more selective use of an existing drug by matching it to the biologic characteristics associated with response. In reviewing the therapeutic lan...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/j.blre.2011.11.001
更新日期：2012-03-01 00:00:00
abstract：:Fears about the risks of disease transmission through the transfusion of homologous blood, as well as problems with blood supply and cost have increased the interest in reducing perioperative bleeding. This article discusses the causes of non-surgical perioperative bleeding and attempts to reduce perioperative bleedin...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/0268-960x(91)90034-a
更新日期：1991-09-01 00:00:00
abstract：:ABVD continues to be the standard of care for patients with advanced stage Hodgkin Lymphoma (HL) although escalated BEACOPP has improved survival in one randomized controlled trial (RCT). More intensive regimens have higher rates of acute and late toxicities and this poses significant issues for patients. Consolidatio...
journal_title：Blood reviews
pub_type： 杂志文章,随机对照试验,评审
doi：10.1016/j.blre.2012.04.001
更新日期：2012-07-01 00:00:00
abstract：:The advent of highly active antiretroviral therapy (HAART) and its co-administration with chemotherapy in patients with human immunodeficiency virus (HIV)-related lymphoma has lead to the exploration of potentially curative combination chemotherapy and myeloablative therapy followed by autologous haematopoietic stem c...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/s0268-960x(03)00026-2
更新日期：2003-12-01 00:00:00
abstract：:The anthracyclines are widely used in the treatment of haematological and non-haematological malignancy and there is now more than 30 years' clinical experience with these agents but despite this, their mechanism of action is incompletely understood. The anthracyclines have been shown to intercalate with DNA and indir...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/s0268-960x(97)90020-5
更新日期：1997-12-01 00:00:00
abstract：:Cerebral venous thrombosis (CVT) is a condition that can affect all age groups and can often be difficult to diagnose and treat. The difficulties in diagnosis are mainly due to the non-specific presenting features of CVT, which can range from isolated headache and visual or auditory problems, to serious symptoms such ...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/j.blre.2014.09.006
更新日期：2015-01-01 00:00:00
abstract：:The clinical relevance of flow cytometry (FC)-based bone marrow involvement (BMI) in B cell non-Hodgkin lymphoma (B-NHL) is not well established. We conducted a systematic review of MEDLINE regarding the use of FC to establish BMI in B-NHL to determine the prevalence of BMI by FC, to understand the interrelation betwe...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/j.blre.2020.100778
更新日期：2020-11-08 00:00:00
abstract：:In refractory thrombocytopenia one should first evaluate whether the therapeutic approach has more risks to the patient than no treatment at all. The patient may remain relatively asymptomatic and the only incommoding circumstances be cosmetic. Coincidental medical problems such as hypertension and peptic ulceration a...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/0268-960x(88)90020-3
更新日期：1988-09-01 00:00:00
abstract：:Four decades ago, two staging systems were developed to help stratify CLL into different prognostic categories. These systems, the Rai and the Binet staging, depended entirely on abnormal exam findings and evidence of anemia and thrombocytopenia. Better understanding of biologic, genetic, and molecular characteristics...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/j.blre.2017.10.003
更新日期：2018-03-01 00:00:00
abstract：:Fanconi anemia (FA) is a rare autosomal and X-linked genetic disease characterized by congenital abnormalities, progressive bone marrow failure (BMF), and increased cancer risk during early adulthood. The median lifespan for FA patients is approximately 33years. The proteins encoded by the FA genes function together i...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/j.blre.2016.10.002
更新日期：2017-05-01 00:00:00
abstract：:Drug-induced agranulocytosis is a highly individualized and unexpected reaction to specific drugs. It may be due to immunogenic or cytotoxic factors. Most instances are produced by a poorly understood immune response to immunogenic drugs. Others are associated with direct suppression of marrow committed stem cells by ...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/0268-960x(90)90002-a
更新日期：1990-12-01 00:00:00
abstract：:The diagnostic approach to easy bruising or a suspected mild bleeding disorder includes a careful history and physical examination as well as laboratory investigations. The history should determine whether or not a bleeding disorder exists and help elucidate possible causes. The physical examination should evaluate ev...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/s0268-960x(05)80014-1
更新日期：1994-06-01 00:00:00
abstract：:The myelodysplastic syndromes (MDS) are characterized by cytopenias and acute myeloid leukemia risk. Most MDS patients eventually require transfusion of red blood cells for anemia, placing them at risk of iron overload (IOL). In beta-thalassemia major, transfusional IOL leads to organ dysfunction and death, however, w...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/j.blre.2010.09.003
更新日期：2011-01-01 00:00:00
abstract：:Transfusion-associated graft-versus-host disease is a rare but usually fatal complication of transfusion of cellular blood components, caused by multiorgan engraftment and proliferation of donor T lymphocytes. The classical features of skin rash, diarrhoea and hepatitis, along with striking bone-marrow failure, are se...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/s0268-960x(95)90016-0
更新日期：1995-12-01 00:00:00
abstract：:For many years red blood cells have been described as inert bystanders rather than participants in intercellular signalling, immune function, and inflammatory processes. However, studies are now reporting that red blood cells from healthy individuals regulate immune cell activity and maturation, and red blood cells fr...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/j.blre.2019.100644
更新日期：2020-05-01 00:00:00
abstract：:The process of megakaryocytopoiesis begins with the commitment of a pluripotent hematopoietic stem cell to a differentiation pathway that culminates in the release of mature platelets into the circulation. A variety of megakaryocyte precursor cells have been identified after stem cell commitment has occurred and these...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/0268-960x(95)90034-9
更新日期：1995-03-01 00:00:00
abstract：:The unstable haemoglobin haemolytic anaemias result from the presence in the red cell of a structurally abnormal haemoglobin variant. There are many mutations producing unstable haemoglobins; most are single amino acid replacements that affect a few key areas of the haemoglobin structure. A wide range of haemoglobin i...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/0268-960x(93)90002-l
更新日期：1993-09-01 00:00:00
abstract：:When an RhD negative mother is exposed to the RhD positive red cells (usually as transplacental haemorrhage), she develops allo-anti-D which crosses the placenta and then results in the destruction of fetal red cells. Clinical manifestations of RhD haemolytic disease (HDN) range from asymptomatic mild anaemia to hydro...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1054/blre.1999.0123
更新日期：2000-03-01 00:00:00
abstract：:Stem cell factor is an essential haemopoietic progenitor cell growth factor with proliferative and anti-apoptotic functions. Molecular biologists have now dissected some of the various pathways through which this cytokine signals to the nucleus. At the same time, new molecules have become available which can inhibit S...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1054/blre.2001.0167
更新日期：2001-12-01 00:00:00
abstract：:For the majority of patients presenting with early Hodgkin's disease, the chance of death due to their disease is related to prognostic factors, e.g. age, systemic symptoms, ESR bulk, number of sites of disease, histology, haemoglobin, lymphocyte count etc. More than 50% of those with Stage I and IIA disease fall into...
journal_title：Blood reviews
pub_type： 杂志文章,评审
doi：10.1016/0268-960x(91)90011-z
更新日期：1991-12-01 00:00:00
