Dominantly transmitted hematologic dysfunction clinically similar to Fanconi's anemia.

Abstract:

:We report a family with a dominantly transmitted syndrome resembling Fanconi's anemia and spanning two generations. This syndrome was characterized by an ill-defined hematologic stem cell disorder, immune dysfunction, poor dentition, hyperpigmented skin, warts, and multiple second trimester spontaneous abortions and included one case of acute myelomonocytic leukemia (acute non-lymphocytic leukemia, M4). This family lacks the characteristic chromosomal aberrations of Fanconi's anemia. We believe this constellation of findings represents an entity not previously described.

journal_name

Am J Hematol

authors

Alter CL,Levine PH,Bennett J,Kessler C,Rick M,Washburn RG,Gallin JI,Miller RW,Auerbach AD

doi

10.1002/ajh.2830320402

subject

Has Abstract

pub_date

1989-12-01 00:00:00

pages

241-7

issue

4

eissn

0361-8609

issn

1096-8652

journal_volume

32

pub_type

杂志文章
  • Two-year evaluation of clinical and laboratory variables of immune function in 117 hemophiliacs seropositive or seronegative for HIV-1.

    abstract::Fifty-nine HIV-1 antibody positive and 58 antibody negative hemophiliacs were evaluated over a 2 year study period to gain insight into the natural history and prognosis of HIV-1 disease in members of this risk group. Mean CD4 (Leu 3+) cell counts calculated at 6 month intervals decreased gradually in seropositive pat...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830320406

    authors: Teitel JM,Freedman JJ,Garvey MB,Kardish M

    更新日期:1989-12-01 00:00:00

  • Increased numbers of marrow basophils may be associated with a t(6;9) in ANLL.

    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

    authors: Pearson MG,Vardiman JW,Le Beau MM,Rowley JD,Schwartz S,Kerman SL,Cohen MM,Fleischman EW,Prigogina EL

    更新日期:1985-04-01 00:00:00

  • Effects of humic acid on the viability and coagulant properties of human umbilical vein endothelial cells.

    abstract::We have previously shown that humic acid (well-water humic acid, HA, and synthetic humic acid, SHA) enhances cell surface expression of tissue factor (TF). Here we report that incubation of human umbilical vein endothelial cells (HUVEC) for 2 hr with HA or SHA cause a rapid rise in TF mRNA levels, as shown by Northern...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1096-8652(199603)51:3<200::AID-AJH4>

    authors: Yang HL,Chiu HC,Lu FJ

    更新日期:1996-03-01 00:00:00

  • Relationship between hematopoietic growth factors levels and hematological parameters in Argentine hemorrhagic fever.

    abstract::Argentine hemorrhagic fever (AHF) is a viral disease caused by Junin virus and characterized by hematologic and neurological involvement. The main hematologic features are leukopenia, thrombocytopenia, and bone marrow hypoplasia. Hematopoietic growth factors serum levels were measured by ELISA technique in forty-eight...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/(sici)1096-8652(200005)64:1<1::aid-ajh1>3.

    authors: Marta RF,Enria D,Molinas FC

    更新日期:2000-05-01 00:00:00

  • Test of the month: The chromogenic antifactor Xa assay.

    abstract::As the number of anticoagulant drugs increases and new ones are brought to market, the utility of the routine screening coagulation tests of today--namely the prothrombin time and activated partial thromboplastin time--will be significantly reduced in many clinical situations. Although the new anticoagulants are desig...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.22222

    authors: Gehrie E,Laposata M

    更新日期:2012-02-01 00:00:00

  • Application of a monoclonal antibody specific for the delta chain of hemoglobin A2 in the diagnosis of beta thalassemia.

    abstract::We have developed a murine monoclonal antibody (mAb) specific for the delta chain of hemoglobin (Hb) A2 that does not cross-react with alpha, beta, or gamma chains. The mAb reacted with Hb P-Nilotic (beta delta hybrid), but not with Hb Lepore-Boston (delta beta hybrid), indicating an epitope consisting of positions 11...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830380311

    authors: Shyamala M,Kiefer CR,Moscoso H,Garver FA

    更新日期:1991-11-01 00:00:00

  • High-dose methylprednisolone is an alternative treatment for adults with autoimmune thrombocytopenic purpura refractory to intravenous immunoglobulins and oral corticosteroids.

    abstract::Eight patients with severe chronic autoimmune thrombocytopenic purpura (AITP) refractory to high-dose intravenous immunoglobulin (IVIgG) and/or oral prednisone were treated with one to three infusions of high-dose methylprednisolone (HDMP) (15 mg/kg/day). The mean platelet count before treatment was 12 +/- 10 x 10(9)/...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830480416

    authors: Godeau B,Zini JM,Schaeffer A,Bierling P

    更新日期:1995-04-01 00:00:00

  • Hermansky-Pudlak syndrome: correction of bleeding time by 1-desamino-8D-arginine vasopressin.

    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

    authors: Wijermans PW,van Dorp DB

    更新日期:1989-03-01 00:00:00

  • Familial association of autoimmune thrombocytopenia and hyperthyroidism.

    abstract::An association between thrombocytopenia and thyrotoxicosis in a single individual is well documented, and the theories for this event include a common immunologic cause or a thyrotoxic-induced decrease in platelet survival. We report the first description of the coexistence of autoimmune thrombocytopenic purpura (AITP...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830390411

    authors: Bizzaro N

    更新日期:1992-04-01 00:00:00

  • Autoimmune diseases and myelodysplastic syndromes.

    abstract::Immune dysregulation and altered T-cell hemostasis play important roles in the pathogenesis of myelodysplastic syndromes (MDS). Recent studies suggest an increased risk of MDS among patients with autoimmune diseases. Here, we investigated the prevalence of autoimmune diseases among MDS patients, comparing characterist...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.24333

    authors: Komrokji RS,Kulasekararaj A,Al Ali NH,Kordasti S,Bart-Smith E,Craig BM,Padron E,Zhang L,Lancet JE,Pinilla-Ibarz J,List AF,Mufti GJ,Epling-Burnette PK

    更新日期:2016-05-01 00:00:00

  • Ticlopidine-induced aplastic anemia: two new case reports, review, and meta-analysis of 55 additional cases.

    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

    authors: Symeonidis A,Kouraklis-Symeonidis A,Seimeni U,Galani A,Giannakoulas N,Fragopanagou E,Tiniakou M,Matsouka P,Zoumbos N

    更新日期:2002-09-01 00:00:00

  • Enhanced generation of monocyte tissue factor and increased plasma prothrombin fragment1+2 levels in patients with polycythemia vera: mechanism of activation of blood coagulation.

    abstract::Polycythemia vera (PV) is associated with a high incidence of thrombosis. The association of apparent and secondary polycythemia with thrombosis is not clear. It was suggested that activation of the coagulation system contributes to thrombus formation in PV. However, the mechanism of activation is unknown. Monocytes g...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/(sici)1096-8652(199709)56:1<5::aid-ajh2>3.

    authors: Kornberg A,Rahimi-Levene N,Yona R,Mor A,Rachmilewitz EA

    更新日期:1997-09-01 00:00:00

  • Progressive peripheral arterial occlusive disease and other vascular events during nilotinib therapy in CML.

    abstract::The second generation BCR/ABL kinase inhibitor nilotinib is increasingly used for the treatment of imatinib-resistant chronic myeloid leukemia (CML). So far, nilotinib is considered a well-tolerated drug with little if any side effects, although an increase in the fasting glucose level has been reported. We examined a...

    journal_title:American journal of hematology

    pub_type: 临床试验,杂志文章

    doi:10.1002/ajh.22037

    authors: Aichberger KJ,Herndlhofer S,Schernthaner GH,Schillinger M,Mitterbauer-Hohendanner G,Sillaber C,Valent P

    更新日期:2011-07-01 00:00:00

  • Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.

    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...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.23619

    authors: Wang Z,Cao L,Su Y,Wang G,Wang R,Yu Z,Bai X,Ruan C

    更新日期:2014-03-01 00:00:00

  • Enhanced botrocetin-induced type IIB von Willebrand factor binding to platelet glycoprotein Ib initiates hyperagglutination of normal platelets.

    abstract::Botrocetin, a protein isolated from the venom of the snake Bothrops jararaca, induces platelet aggregation/agglutination by von Willebrand factor (vWF) binding to the membrane glycoprotein (GP) Ib, an action resembling that of ristocetin. However, some differences in the interaction between vWF and platelet GPIb induc...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830330409

    authors: Nishio K,Fujimura Y,Niinomi K,Takahashi Y,Yoshioka A,Fukui H,Usami Y,Titani K,Ruggeri ZM,Zimmerman TS

    更新日期:1990-04-01 00:00:00

  • Successful engraftment and stable full donor chimerism after myeloablation with thiotepa, fludarabine, and melphalan and CD34-selected peripheral allogeneic stem cell transplantation in hemophagocytic lymphohistiocytosis.

    abstract::Allogeneic hematopoietic stem cell transplantation (HSCT) represents the only curative option for primary hemophagocytic lymphohistiocytosis (HLH), a rare disease of infants and young children, characterized by recurrent fever, hepatosplenomegaly, and cytopenia. We report a case of successful engraftment and stable fu...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.10266

    authors: Cesaro S,Gazzola MV,Marson P,Calore E,Caenazzo L,Destro R,De Silvestro G,Varotto S,Pillon M,Zanesco L,Messina C

    更新日期:2003-02-01 00:00:00

  • Peripheral blood remission of hairy cell leukemia after transfusion hepatitis.

    abstract::Hairy cell leukemia is a chronic lymphoproliferative disorder characterized clinically by splenomegaly and cytopenias. Spontaneous remissions are rare and splenectomy is often performed when the blood counts worsen and cause symptoms. Three of our patients with hairy cell leukemia developed recurrent pancytopenia and ...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830250307

    authors: Keefer MJ,Weber MJ,Bottomley SS,Solanki DL,Hosty TA

    更新日期:1987-07-01 00:00:00

  • Nonspecific esterase of acute promyelocytic leukemia (M3).

    abstract::Leukemic cells of 43 patients with acute promyelocytic leukemia (M3) were investigated morphologically and cytochemically to determine the percentage of aberrant enzymes and whether or not the presence impacts on the clinical outcome. Twelve patients (27.9%) showed alpha-naphthyl acetate esterase (ANAE) activity in th...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830290306

    authors: Matsuo T,Jain NC,Bennett JM

    更新日期:1988-11-01 00:00:00

  • Platelet glycoprotein Ia 807C/T (Phe224) and 873G/A (Thr246) dimorphisms in Turkey.

    abstract::At sites of vascular injury, the platelet collagen receptor Glycoprotein Ia/IIa (GPIa/IIa) acts as an important mediator of platelet adhesion to fibrillar collagens. Two silent polymorphisms (807C/T and 873G/A) within the glycoprotein Ia gene have been implicated in increased risk of developing thrombosis and myocardi...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.10029

    authors: Komurcu E,Erginel-Unaltuna N

    更新日期:2002-01-01 00:00:00

  • Intensive management of high-utilizing adults with sickle cell disease lowers admissions.

    abstract::A minority of super-utilizing adults with sickle cell disease (SCD) account for a disproportionate number of emergency department (ED) and hospital admissions. We performed a retrospective cohort study comparing the rate of admission before and after the opening of a clinic for adults with SCD. Unique to this clinic w...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.23912

    authors: Koch KL,Karafin MS,Simpson P,Field JJ

    更新日期:2015-03-01 00:00:00

  • Genomic Characteristics and Prognostic Significance of Co-mutated ASXL1/SRSF2 Acute Myeloid Leukemia.

    abstract::ASXL1 and SRSF2 mutations in AML are frequently found in patients with preexisting myeloid malignancies and are individually associated with poor outcomes. In this multi-institutional retrospective analysis, we assessed the genetic features and clinical outcomes of 43 patients with ASXL1mut SRSF2mut AML and compared o...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.26110

    authors: Richardson DR,Swoboda DM,Moore DT,Johnson SM,Chan O,Galeotti J,Esparza S,Hussaini MO,Van Deventer H,Foster MC,Coombs CC,Montgomery ND,Sallman DA,Zeidner JF

    更新日期:2021-01-27 00:00:00

  • Erythrophagocytosis in vivo in sickle cell anemia.

    abstract::Recent observations that the sickle RBC are excessively susceptible to phagocytosis by macrophages in vitro prompted me to look for evidence of in vivo erythrophagocytosis (Ep) in patients with sickle cell anemia (SS). Freshly prepared smears of unmanipulated blood of 27 patients with SS in steady state were examined ...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830200406

    authors: Solanki DL

    更新日期:1985-12-01 00:00:00

  • Inpatient management of sickle cell pain: a 'snapshot' of current practice.

    abstract::The Sickle Cell Disease Clinical Research Network (SCDCRN) designed the PROACTIVE Feasibility Study (ClinicalTrials.gov NCT00951808) to determine whether elevated serum levels of secretory phospholipase A2 (sPLA2) during hospitalization for pain would permit preemptive therapy of sickle cell acute chest syndrome (ACS)...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.22265

    authors: Miller ST,Kim HY,Weiner D,Wager CG,Gallagher D,Styles L,Dampier CD,Investigators of the Sickle Cell Disease Clinical Research Network (SCDCRN).

    更新日期:2012-03-01 00:00:00

  • Microangiopathic hemolytic anemia complicating FK506 (tacrolimus) therapy.

    abstract::We describe 3 episodes of microangiopathic hemolytic anemia (MAHA) in 2 solid organ recipients under FK506 (tacrolimus) therapy. In both cases, discontinuation of FK506 and treatment with plasma exchange, fresh frozen plasma replacement, corticosteroids, aspirin, and dipyridamole led to resolution of MAHA. In one pati...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1096-8652(199608)52:4<310::AID-AJH11

    authors: Mach-Pascual S,Samii K,Beris P

    更新日期:1996-08-01 00:00:00

  • Phenotypic variability of Filipino beta(o)-thalassemia/HbE patients in Indonesia.

    abstract::Three Indonesian patients with identical genotypes, each compound heterozygotes for Filipino beta(o)-thalassemia/HbE, expressed different clinical severities. One patient has mild disease and is transfusion independent, while the other two are severely affected and transfusion dependent. The size of the Filipino beta(...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/(sici)1096-8652(199909)62:1<7::aid-ajh2>3.

    authors: Setianingsih I,Williamson R,Daud D,Harahap A,Marzuki S,Forrest S

    更新日期:1999-09-01 00:00:00

  • Disturbance of plasma and platelet thrombospondin levels in sickle cell disease.

    abstract::Thrombospondin (TSP), a large protein found in platelet alpha-granules (as TSP-1), mediates adhesion of sickle reticulocytes to cultured vascular endothelium. To further explore the physiologic relevance of this observation, we have measured plasma TSP levels and platelet TSP-1 content in subjects with sickle cell dis...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1096-8652(199604)51:4<296::AID-AJH8>

    authors: Browne PV,Mosher DF,Steinberg MH,Hebbel RP

    更新日期:1996-04-01 00:00:00

  • Variation of PDGF, TGFbeta, and bFGF levels in essential thrombocythemia patients treated with anagrelide.

    abstract::We studied 15 patients with essential thrombocythemia (ET) before treatment and after normalization of platelet count by anagrelide. Significantly increased plasma levels of PDGF, TGFbeta, and bFGF were found. Patients with mild reticulin fibrosis in bone marrow had higher PDGF levels. During treatment, plasma TGFbeta...

    journal_title:American journal of hematology

    pub_type: 临床试验,杂志文章

    doi:10.1002/ajh.10091

    authors: Lev PR,Marta RF,Vassallu P,Molinas FC

    更新日期:2002-06-01 00:00:00

  • Clinical outcome and monitoring of minimal residual disease in patients with acute lymphoblastic leukemia expressing the MLL/ENL fusion gene.

    abstract::We analyzed 12 MLL/ENL positive ALL patients consecutively diagnosed between 1999 and 2009. The MLL/ENL fusion was identified in 4/150 (2.6%), 8/993 (0.8%), and 0/70 of pediatric, adult, and elderly patients, respectively. Eight patients had a WBC count >50 × 10(9) /L. Ten cases had an evaluable immunophenotyping. A B...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.22161

    authors: Elia L,Grammatico S,Paoloni F,Vignetti M,Rago A,Cenfra N,Mecarocci S,Mancini M,Luciani M,Di Raimondo F,Cazzaniga G,Matarazzo M,Moleti ML,Santoro L,Gaidano G,Foà R,Mandelli F,Cimino G

    更新日期:2011-12-01 00:00:00

  • Comparative outcomes of myeloablative and reduced-intensity conditioning allogeneic hematopoietic cell transplantation for therapy-related acute myeloid leukemia with prior solid tumor: A report from the acute leukemia working party of the European societ

    abstract::Therapy-related acute myeloid leukemia (t-AML) arises as a late complication following antecedent solid tumors or hematologic diseases and their associated treatments. There are limited data regarding risk factors and outcomes following allogeneic hematopoietic cell transplantation (HCT) for t-AML following a prior so...

    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.25395

    authors: Lee CJ,Labopin M,Beelen D,Finke J,Blaise D,Ganser A,Itälä-Remes M,Chevallier P,Labussière-Wallet H,Maertens J,Yakoub-Agha I,Bourhis JH,Mailhol A,Mohty M,Savani BN,Nagler A

    更新日期:2019-04-01 00:00:00

  • Hereditary hemochromatosis and red cell aplasia.

    abstract::A 63-year-old white man with myasthenia gravis and red cell aplasia was found to have hepatic iron overload. The differential diagnosis included hereditary hemochromatosis and secondary iron overload related to red cell aplasia. Family studies of siblings, including HLA typing, initially suggested a diagnosis of secon...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830450314

    authors: Adams PC

    更新日期:1994-03-01 00:00:00