A single-center experience in 20 patients with infantile malignant osteopetrosis.

Abstract:

:Infantile malignant osteopetrosis (IMO) includes various genetic disorders that affect osteoclast development and/or function. Genotype-phenotype correlation studies in IMO have been hampered by the rarity and heterogeneity of the disease and by the severity of the clinical course, which often leads to death early in life. We report on the clinical and molecular findings and treatment in 20 consecutive patients (11 males, nine females) with IMO, diagnosed at a single center in the period 1991-2008. Mean age at diagnosis was 3.9 months, and mean follow-up was 66.75 months. Mutations in TCIRG1, OSTM1, ClCN7, and TNFRSF11A genes were detected in nine, three, one, and one patients, respectively. Six patients remain genetically undefined. OSTM1 and ClCN7 mutations were associated with poor neurologic outcome. Among nine patients with TCIRG1 defects, six presented with hypogammaglobulinemia, and one showed primary pulmonary hypertension. Fourteen patients received hematopoietic cell transplantation; of these, nine are alive and eight of them have evidence of osteoclast function. These data may provide a basis for informed decisions regarding the care of patients with IMO.

journal_name

Am J Hematol

authors

Mazzolari E,Forino C,Razza A,Porta F,Villa A,Notarangelo LD

doi

10.1002/ajh.21447

subject

Has Abstract

pub_date

2009-08-01 00:00:00

pages

473-9

issue

8

eissn

0361-8609

issn

1096-8652

journal_volume

84

pub_type

杂志文章
  • Hemostatic molecular markers before the onset of disseminated intravascular coagulation.

    abstract::We retrospectively measured various hemostatic markers in 240 patients with disseminated intravascular coagulation (DIC) before the onset of DIC and in 110 non-DIC patients, and examined their usefulness for the diagnosis of pre-DIC. Changes in prothrombin time ratio and fibrinogen levels were not significant before t...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/(sici)1096-8652(199904)60:4<273::aid-ajh4>

    authors: Wada H,Sakuragawa N,Mori Y,Takagi M,Nakasaki T,Shimura M,Hiyoyama K,Nisikawa M,Gabazza EC,Deguchi K,Kazama M,Shiku H

    更新日期:1999-04-01 00:00:00

  • Altered cytokine activities are related to the suppression of synthesis of normal immunoglobulin in multiple myeloma.

    abstract::The content of peripheral blood B cells (B1+) was reduced in patients of multiple myeloma (MM) and not in those with benign monoclonal gammopathy (BMG) compared to normal donors (P less than 0.01). This observation correlated with the suppression of synthesis of normal immunoglobulin (Ig) in MM. Thus, cytokine activit...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830300208

    authors: Kawano M,Iwato K,Asaoku H,Tanabe O,Tanaka H,Ishikawa H,Kuramoto A

    更新日期:1989-02-01 00:00:00

  • Rapid donor T-cell engraftment increases the risk of chronic graft-versus-host disease following salvage allogeneic peripheral blood hematopoietic cell transplantation for bone marrow failure syndromes.

    abstract::The risk of graft-rejection after allogeneic hematopoietic cell transplantation using conventional cyclophosphamide-based conditioning is increased in patients with bone marrow failure syndromes (BMFS) who are heavily transfused and often HLA-alloimmunized. Fifty-six patients with BMFS underwent fludarabine-based redu...

    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.23526

    authors: Pantin J,Tian X,Shah AA,Kurlander R,Ramos C,Cook L,Khuu H,Stroncek D,Leitman S,Barrett J,Donohue T,Young NS,Geller N,Childs RW

    更新日期:2013-10-01 00:00:00

  • Is sickle cell crisis a thrombotic event?

    abstract::Although large vessel thrombi are occasionally reported in patients with homozygous sickle cell disease, the role of intravascular coagulation in typical pain crises is controversial. Therefore, we studied 24 sickle cell patients during and between episodes of pain crisis, using several sensitive tests of hemostasis. ...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830230403

    authors: Green D,Scott JP

    更新日期:1986-12-01 00:00:00

  • Fatal Loeffler's endocarditis due to hypereosinophilic syndrome.

    abstract::Hypereosinophilic syndrome (HES) is a rare disorder that can manifest in various organ systems. We report the case of a 54-year-old woman with a remote history of seizure disorder who presented with early signs of right-sided heart failure. Laboratory studies showed significant eosinophilia (8 x 10(9) l(-1)). Computed...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.20933

    authors: Chao BH,Cline-Parhamovich K,Grizzard JD,Smith TJ

    更新日期:2007-10-01 00:00:00

  • Phase I study of oral clofarabine consolidation in adults aged 60 and older with acute myeloid leukemia.

    abstract::Clofarabine has shown activity and tolerability in older patients with acute myeloid leukemia (AML). We investigated the safety and tolerability of an oral formulation of clofarabine for consolidation therapy of patients aged 60 and older with AML. In this phase I study, twenty-two patients older than 60 years with AM...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.23663

    authors: Jacoby MA,Martin MG,Uy GL,Westervelt P,Dipersio JF,Cashen A,Stockerl-Goldstein K,Vij R,Luo J,Reineck T,Bernabe N,Abboud CN

    更新日期:2014-05-01 00:00:00

  • Epidemiology and clinical relevance of mutations in postpolycythemia vera and postessential thrombocythemia myelofibrosis: A study on 359 patients of the AGIMM group.

    abstract::Transformation to secondary myelofibrosis (MF) occurs as part of the natural history of polycythemia vera (PPV-MF) and essential thrombocythemia (PET-MF). Although primary (PMF) and secondary MF are considered similar diseases and managed similarly, there are few studies specifically focused on the latter. The aim of ...

    journal_title:American journal of hematology

    pub_type: 杂志文章,多中心研究

    doi:10.1002/ajh.24377

    authors: Rotunno G,Pacilli A,Artusi V,Rumi E,Maffioli M,Delaini F,Brogi G,Fanelli T,Pancrazzi A,Pietra D,Bernardis I,Belotti C,Pieri L,Sant'Antonio E,Salmoiraghi S,Cilloni D,Rambaldi A,Passamonti F,Barbui T,Manfredini R,Ca

    更新日期:2016-07-01 00:00:00

  • Second-line treatments in children with immune thrombocytopenia: Effect on platelet count and patient-centered outcomes.

    abstract::Immune thrombocytopenia (ITP) is an autoimmune bleeding disorder with isolated thrombocytopenia and hemorrhagic risk. While many children with ITP can be safely observed, treatments are often needed for various reasons, including to decrease bleeding, or to improve health related quality of life (HRQoL). There are a n...

    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.25479

    authors: Grace RF,Shimano KA,Bhat R,Neunert C,Bussel JB,Klaassen RJ,Lambert MP,Rothman JA,Breakey VR,Hege K,Bennett CM,Rose MJ,Haley KM,Buchanan GR,Geddis A,Lorenzana A,Jeng M,Pastore YD,Crary SE,Neier M,Neufeld EJ,Neu N

    更新日期:2019-07-01 00:00:00

  • Sustained remissions and low rate of BCR-ABL resistance mutations with imatinib treatment chronic myelogenous leukemia in patients treated in late chronic phase: a 5-year follow up.

    abstract::The introduction of Imatinib (IM) has significantly altered the treatment for CML, although only limited follow-up results are available. As failure of Interferon-alpha had been associated with poor prognosis and results of IM-treatment in this patient group may allow earlier estimation of long-term benefits for early...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.21055

    authors: Hess G,Meyer RG,Schuch B,Bechthold K,El-Kholy I,Huber C

    更新日期:2008-03-01 00:00:00

  • Primary myelofibrosis: 2019 update on diagnosis, risk-stratification and management.

    abstract:DISEASE OVERVIEW:Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by stem cell-derived clonal myeloproliferation that is often but not always accompanied by JAK2, CALR, or MPL mutations; additional disease features include bone marrow stromal reaction including reticulin fibrosis, abnorm...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.25230

    authors: Tefferi A

    更新日期:2018-12-01 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

  • Prevalence of factor V G1691A (factor V-Leiden) and prothrombin G20210A gene mutations in a recurrent miscarriage population.

    abstract::Factor V G1691A (FV-Leiden) and prothrombin G20210A mutations are major inherited risk factors for venous thrombosis. Recently, it was suggested that both mutations, through stimulation of venous and placental thrombosis events, were strongly associated with recurrent idiopathic miscarriages, although other studies di...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.10223

    authors: Finan RR,Tamim H,Ameen G,Sharida HE,Rashid M,Almawi WY

    更新日期:2002-12-01 00:00:00

  • Elevated serum free light chains are associated with inferior event free and overall survival in Hodgkin lymphoma.

    abstract::The serum free light chain (FLC) assay quantitates free immunoglobulin kappa and lambda light chains, which has prognostic value in plasma cell dyscrasias. However, there is limited data on serum FLC in lymphoid malignancies. We analyzed the association of pretreatment FLC with event-free survival (EFS) and overall su...

    journal_title:American journal of hematology

    pub_type: 杂志文章,多中心研究

    doi:10.1002/ajh.22168

    authors: Thompson CA,Maurer MJ,Cerhan JR,Katzmann JA,Ansell SM,Habermann TM,Macon WR,Weiner GJ,Link BK,Witzig TE

    更新日期:2011-12-01 00:00:00

  • Neutrophil elastase in patients with homozygous beta-thalassemia and pseudoxanthoma elasticum-like syndrome.

    abstract::In this study we investigated the possible role of neutrophil (PMN) elastase and its natural inhibitor, alpha1-proteinase inhibitor (alpha1-PI) in the pathogenesis of the pseudoxanthoma elasticum (PXE)-like syndrome which is found in patients with homozygous beta-thalassemia. We studied 30 beta-thalassemia homozygotes...

    journal_title:American journal of hematology

    pub_type: 临床试验,杂志文章

    doi:10.1002/(sici)1096-8652(200002)63:2<63::aid-ajh1>3

    authors: Samarkos M,Aessopos A,Fragodimitri C,Karagiorga M,Kalotychou V,Voskaridou E,Kavouklis E,Loukopoulos D

    更新日期:2000-02-01 00:00:00

  • Muir-Torre syndrome in patients with hematologic malignancies.

    abstract::The Muir-Torre syndrome (MTS) is defined as the concurrent or sequential discovery of at least one sebaceous gland tumor and a minimum of one internal malignancy. A man with Hodgkin's lymphoma who subsequently developed an ocular sebaceous carcinoma in situ is described and the world literature of patients with the MT...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830400114

    authors: Cohen PR

    更新日期:1992-05-01 00:00:00

  • CD34 expression is associated with poor clinical outcome in patients with acute promyelocytic leukemia.

    abstract::This study investigated the clinical characteristics and prognostic relevance of CD34 expression in 47 patients with acute promyelocytic leukemia (APL), showing t(15;17) or PML/RARalpha. Ten (21.3%) of the APL patients were CD34(+). CD34 expression was associated with hypogranular morphology (P = 0.002) and hyperleuko...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.10337

    authors: Lee JJ,Cho D,Chung IJ,Cho SH,Park KS,Park MR,Ryang DW,Kim HJ

    更新日期:2003-07-01 00:00:00

  • Abnormalities of von Willebrand factor multimers in drug-associated thrombotic microangiopathies.

    abstract::Six patients with thrombotic microangiopathy associated with drug therapy had serial analyses of von Willebrand factor (vWF) multimeric patterns in their EDTA-plasma samples by sodium dodecyl sulfate-1% agarose gel electrophoresis and autoradiography. In the plasma of five patients (one with chronic myelogenous leukem...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830420306

    authors: Charba D,Moake JL,Harris MA,Hester JP

    更新日期:1993-03-01 00:00:00

  • Immunoglobulin light chain amyloidosis: 2020 update on diagnosis, prognosis, and treatment.

    abstract:DISEASE OVERVIEW:Immunoglobulin light chain amyloidosis is a clonal, nonproliferative plasma cell disorder in which fragments of immunoglobulin light or heavy chain are deposited in tissues. Clinical features depend on organs involved but can include heart failure with preserved ejection fraction, nephrotic syndrome, h...

    journal_title:American journal of hematology

    pub_type: 杂志文章,评审

    doi:10.1002/ajh.25819

    authors: Gertz MA

    更新日期:2020-07-01 00:00:00

  • Clinical profiles of multiple myeloma in Asia-An Asian Myeloma Network study.

    abstract::The incidence of multiple myeloma (MM) is known to be variable according to ethnicity. However, the differences in clinical characteristics between ethnic groups are not well-defined. In Asian countries, although the incidence of MM has been lower than that of Western countries, there is growing evidence that MM is in...

    journal_title:American journal of hematology

    pub_type: 杂志文章,多中心研究

    doi:10.1002/ajh.23731

    authors: Kim K,Lee JH,Kim JS,Min CK,Yoon SS,Shimizu K,Chou T,Kosugi H,Suzuki K,Chen W,Hou J,Lu J,Huang XJ,Huang SY,Chng WJ,Tan D,Teoh G,Chim CS,Nawarawong W,Siritanaratkul N,Durie BG

    更新日期:2014-07-01 00:00:00

  • The pathophysiological relationship and clinical significance of left atrial function and left ventricular diastolic dysfunction in β-thalassemia major.

    abstract::Iron deposition in combination with inflammatory and immunogenetic factors is involved in the pathophysiology of cardiac dysfunction in β-thalassemia major. We investigated the mechanical and endocrine function of the left atrium and ventricle to identify early signs of dysfunction. We studied 90 patients (mean age: 2...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.23581

    authors: Kostopoulou AG,Tsiapras DP,Chaidaroglou AS,De Giannis DE,Farmakis D,Kremastinos DT

    更新日期:2014-01-01 00:00:00

  • Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis.

    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

    authors: Kristensen T,Vestergaard H,Bindslev-Jensen C,Møller MB,Broesby-Olsen S,Mastocytosis Centre, Odense University Hospital (MastOUH).

    更新日期:2014-05-01 00:00:00

  • The hope and reality of long-acting hemophilia products.

    abstract::Recombinant DNA technology and protein engineering are creating hope that we can address ongoing challenges in hemophilia care such as reducing the costs of therapy, increasing the availability to the developing world, and improving the functional properties of these proteins. Technological advances to improve the hal...

    journal_title:American journal of hematology

    pub_type: 杂志文章,评审

    doi:10.1002/ajh.23146

    authors: Pipe SW

    更新日期:2012-05-01 00:00:00

  • Short telomere length is associated with NOTCH1/SF3B1/TP53 aberrations and poor outcome in newly diagnosed chronic lymphocytic leukemia patients.

    abstract::Most previous studies on telomere length (TL) in chronic lymphocytic leukemia (CLL) are based on referral cohorts including a high proportion of aggressive cases. Here, the impact of TL was analyzed in a population-based cohort of newly diagnosed CLL (n = 265) and in relation to other prognostic markers. Short telomer...

    journal_title:American journal of hematology

    pub_type: 临床试验,杂志文章

    doi:10.1002/ajh.23466

    authors: Mansouri L,Grabowski P,Degerman S,Svenson U,Gunnarsson R,Cahill N,Smedby KE,Geisler C,Juliusson G,Roos G,Rosenquist R

    更新日期:2013-08-01 00:00:00

  • Dense red blood cell and oxygen desaturation in sickle-cell disease.

    abstract::Production of abnormal hemoglobin (HbS) in sickle-cell disease (SCD) results in its polymerization in deoxygenated conditions and in sickled-RBC formation. Dense RBCs (DRBCs), defined as density >1.11 and characterized by increased rigidity are absent in normal AA subjects, but present at percentages that vary of a pa...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.24467

    authors: Di Liberto G,Kiger L,Marden MC,Boyer L,Poitrine FC,Conti M,Rakotoson MG,Habibi A,Khorgami S,Vingert B,Maitre B,Galacteros F,Pirenne F,Bartolucci P

    更新日期:2016-10-01 00:00:00

  • Antitumor effects of celecoxib on K562 leukemia cells are mediated by cell-cycle arrest, caspase-3 activation, and downregulation of Cox-2 expression and are synergistic with hydroxyurea or imatinib.

    abstract::Celecoxib, a specific cyclooxygenase-2 (Cox-2) inhibitor, has been shown to possess antitumor activity in a variety of cancer cells. However, the antitumor activity of celecoxib in hematopoietic tumors, especially in chronic myeloid leukemia (CML), has not been well established. This study was designed to investigate ...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.20542

    authors: Zhang GS,Liu DS,Dai CW,Li RJ

    更新日期:2006-04-01 00:00:00

  • A single high-resolution HLA mismatch has a similar adverse impact on the outcome of related hematopoietic stem cell transplantation as a single low-resolution HLA mismatch.

    abstract::The relative importance of the resolution level of HLA typing has not been fully defined for related donor transplantation. To address this question, we retrospectively evaluated patients who underwent a first related hematopoietic stem cell transplantation (HSCT) from 2000 to 2011 from an HLA high-resolution matched ...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.24028

    authors: Fuji S,Kanda J,Kato S,Ikegame K,Morishima S,Miyamoto T,Hidaka M,Kubo K,Miyamura K,Tsudo M,Kobayashi H,Maesako Y,Eto T,Adachi S,Ichinohe T,Atsuta Y,Kanda Y,HLA Working Group of the Japan Society for Hematopoietic Cell Tr

    更新日期:2015-07-01 00:00:00

  • IDH mutations are closely associated with mutations of DNMT3A, ASXL1 and SRSF2 in patients with myelodysplastic syndromes and are stable during disease evolution.

    abstract::Current information about clinical significance of IDH mutations in myelodysplastic syndromes (MDS), their association with other genetic alterations and the stability during disease progression is limited. In this study, IDH mutations were identified in 4.6% of 477 patients with MDS based on the FAB classification an...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.23596

    authors: Lin CC,Hou HA,Chou WC,Kuo YY,Liu CY,Chen CY,Lai YJ,Tseng MH,Huang CF,Chiang YC,Lee FY,Liu MC,Liu CW,Tang JL,Yao M,Huang SY,Ko BS,Wu SJ,Tsay W,Chen YC,Tien HF

    更新日期:2014-02-01 00:00:00

  • Genetic polymorphisms in cytochrome P450s, GSTs, NATs, alcohol consumption and risk of non-Hodgkin lymphoma.

    abstract::The aim of this study was to investigate whether genetic polymorphisms in cytochrome P450s (CYPs), glutathione S-transferases (GSTs), and N-acetyltransferases (NATs) genes modify the relationship between alcohol consumption and risk of non-Hodgkin's lymphoma (NHL) in a population-based, case-control study including 1,...

    journal_title:American journal of hematology

    pub_type: 信件

    doi:10.1002/ajh.21608

    authors: Li Y,Zheng T,Kilfoy BA,Lan Q,Holford T,Han X,Zhao P,Dai M,Leaderer B,Rothman N,Zhang Y

    更新日期:2010-03-01 00:00:00

  • CD5 positive immunoregulatory B cells in spleen populations from multiple myeloma patients.

    abstract::CD19+CD5+ lymphocytes constitute a minority of peripheral blood B cells. In view of the importance of these cells in the pathogenesis of the immunoregulation of myeloma, their incidence in another lymphoid organ was determined. CD5+ B cells were studied in 9 spleens from patients with multiple myeloma and in 10 spleen...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830370306

    authors: MacKenzie MR,Paglieroni T,Caggiano V

    更新日期:1991-07-01 00:00:00

  • Inhibitory effect of short-chain aliphatic acids on deoxythymidine incorporation into DNA in mitogen-stimulated and leukemic lymphocytes.

    abstract::The effect of short-chain aliphatic acids on [3H]deoxythymidine incorporation into DNA was studied in human mitogen-stimulated lymphocytes. Butyric acid at 1-2 mM level was strongly inhibitory; however, its hydroxy or amino derivatives were ineffective. Valeric and propionic acids were less inhibitory. Formic, acetic,...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830130203

    authors: Stolc V

    更新日期:1982-09-01 00:00:00