Autosomal dominant C1149R von Willebrand disease: phenotypic findings and their implications.

abstract：:Iron overload and hepatitis virus C infection cause liver fibrosis in thalassemics. In a monocentric retrospective analysis of liver disease in a cohort of 191 transfusion-dependent thalassemics, in 126 patients who had undergone liver biopsy (mean age 17.2 years; 58 hepatitis virus C-RNA positive and 68 hepatitis vir...

journal_title：Haematologica

authors： Di Marco V,Capra M,Gagliardotto F,Borsellino Z,Cabibi D,Barbaria F,Ferraro D,Cuccia L,Ruffo GB,Bronte F,Di Stefano R,Almasio PL,Craxì A

更新日期：2008-08-01 00:00:00

abstract：:We report the distribution and clinicopathological characteristics of malignant lymphomas in Taiwan, defined according to the WHO classification. Data including age and gender of the patients, clinical staging and disease courses were collected for 598 cases of malignant lymphomas. The results showed that the epidemio...

journal_title：Haematologica

authors： Lee MY,Tan TD,Feng AC,Liu MC

更新日期：2005-12-01 00:00:00

abstract：:A case of stiff-man syndrome (SMS), a rare and dramatic CNS disease characterized by continuous muscle activity and painful spasms resembling a chronic form of tetanus, occurring in a patient with Hodgkin's disease (HD) is reported. The patient developed the clinical features of SMS at the same time as the HD relapse....

journal_title：Haematologica

authors： Ferrari P,Federico M,Grimaldi LM,Silingardi V

更新日期：1990-11-01 00:00:00

abstract：:Although myelodysplastic syndromes are heterogeneous disorders comprising a benign subset of bone marrow failure similar to aplastic anemia, no laboratory test has been established to distinguish it from bone marrow failures that can evolve into acute myeloid leukemia. Plasma thrombopoietin levels were measured in 120...

journal_title：Haematologica

authors： Seiki Y,Sasaki Y,Hosokawa K,Saito C,Sugimori N,Yamazaki H,Takami A,Nakao S

更新日期：2013-06-01 00:00:00

abstract：BACKGROUND:Most minimal residual disease-directed treatment interventions in current treatment protocols for acute lymphoblastic leukemia are based on bone marrow testing, which is a consequence of previous studies showing the superiority of bone marrow over peripheral blood as an investigational material. Those studie...

journal_title：Haematologica

authors： Volejnikova J,Mejstrikova E,Valova T,Reznickova L,Hodonska L,Mihal V,Sterba J,Jabali Y,Prochazkova D,Blazek B,Hak J,Cerna Z,Hrusak O,Stary J,Trka J,Fronkova E

更新日期：2011-12-01 00:00:00

abstract：:Chronic lymphocytic leukemia (CLL) is a disease with heterogeneous clinical and biological characteristics. Differences in Ca2+ levels among cases, both basal and upon B-cell receptor (BCR) stimulation, may reflect heterogeneity in the pathogenesis due to cell-intrinsic factors. Our aim was to elucidate cell-intrinsic...

journal_title：Haematologica

authors： Meijers RWJ,Muggen AF,Leon LG,de Bie M,van Dongen JJM,Hendriks RW,Langerak AW

更新日期：2020-01-01 00:00:00

abstract：BACKGROUND:Burkitt's lymphoma is an aggressive B-cell lymphoma characterized by typical morphological, immunophenotypic and molecular features. Gene expression profiling provided a molecular signature of Burkitt's lymphoma, but also demonstrated that a subset of aggressive B-cell lymphomas not fulfilling the current Wo...

journal_title：Haematologica

authors： Salaverria I,Zettl A,Beà S,Hartmann EM,Dave SS,Wright GW,Boerma EJ,Kluin PM,Ott G,Chan WC,Weisenburger DD,Lopez-Guillermo A,Gascoyne RD,Delabie J,Rimsza LM,Braziel RM,Jaffe ES,Staudt LM,Müller-Hermelink HK,Campo E,

更新日期：2008-09-01 00:00:00

abstract：:Mastocytosis is a rare and chronic disease with phenotypes ranging from indolent to severe. Prognosis for this disease is variable and very few biomarkers to predict disease evolution or outcome are currently known. We have performed comprehensive screening in our large cohort of mastocytosis patients for mutations pr...

journal_title：Haematologica

authors： Hanssens K,Brenet F,Agopian J,Georgin-Lavialle S,Damaj G,Cabaret L,Chandesris MO,de Sepulveda P,Hermine O,Dubreuil P,Soucie E

更新日期：2014-05-01 00:00:00

abstract：BACKGROUND AND OBJECTIVES:Whether degree of iron stores influences progression of human immunodeficiency virus (HIV) disease is controversial. We studied the relationship of indirect measures of iron stores with mortality in highly active antiretroviral therapy (HAART)-naive participants from the Women's Interagency HI...

journal_title：Haematologica

authors： Gordeuk VR,Onojobi G,Schneider MF,Dawkins FW,Delapenha R,Voloshin Y,von Wyl V,Bacon M,Minkoff H,Levine A,Cohen M,Greenblatt RM

更新日期：2006-06-01 00:00:00

abstract：BACKGROUND:Resistance to imatinib is an important clinical issue in the treatment of Philadelphia chromosome-positive leukemias which is being tackled by the development of new, more potent drugs, such as the dual Src/Abl tyrosine kinase inhibitors dasatinib and bosutinib and the imatinib analog nilotinib. In the curre...

journal_title：Haematologica

authors： Puttini M,Redaelli S,Moretti L,Brussolo S,Gunby RH,Mologni L,Marchesi E,Cleris L,Donella-Deana A,Drueckes P,Sala E,Lucchini V,Kubbutat M,Formelli F,Zambon A,Scapozza L,Gambacorti-Passerini C

更新日期：2008-05-01 00:00:00

abstract：BACKGROUND AND OBJECTIVES:Autologous peripheral stem cell transplantation (APSCT) is increasingly used for various hematologic malignancies and solid tumors. The objective of this study was to analyze the immune reconstitution after APSCT and see if there was any correlation with diagnosis, age, type of high-dose thera...

journal_title：Haematologica

authors： Steingrimsdottir H,Gruber A,Björkholm M,Svensson A,Hansson M

更新日期：2000-08-01 00:00:00

abstract：:Antiphospholipid antibody syndrome is an autoimmune disease characterized by the presence of so-called antiphospholipid antibodies and clinical manifestations such as recurrent thromboembolic or pregnancy complications. Although the main antigenic determinant for antiphospholipid antibodies has been identified as the ...

journal_title：Haematologica

authors： de Moerloose P,Fickentscher C,Boehlen F,Tiercy JM,Kruithof EKO,Brandt KJ

更新日期：2017-08-01 00:00:00

abstract：:Next generation sequencing technologies have provided insights into the molecular heterogeneity of various myeloid neoplasms, revealing previously unknown somatic genetic events. In our cohort of 1444 cases analyzed by next generation sequencing, somatic mutations in the gene BRCA1-BRCA2-containing complex 3 (BRCC3) w...

journal_title：Haematologica

authors： Huang D,Nagata Y,Grossmann V,Radivoyevitch T,Okuno Y,Nagae G,Hosono N,Schnittger S,Sanada M,Przychodzen B,Kon A,Polprasert C,Shen W,Clemente MJ,Phillips JG,Alpermann T,Yoshida K,Nadarajah N,Sekeres MA,Oakley K,Ngu

更新日期：2015-08-01 00:00:00

abstract：:Alemtuzumab serum levels and clinical response after subcutaneous administration (10 mg 3 times/week for six weeks) have been explored in 29 chronic lymphocytic leukemia patients receiving the monoclonal antibody as consolidation. Serum concentrations after each administration gradually increased during the first week...

journal_title：Haematologica

authors： Montagna M,Montillo M,Avanzini MA,Tinelli C,Tedeschi A,Visai L,Ricci F,Vismara E,Morra E,Regazzi M

更新日期：2011-06-01 00:00:00

abstract：:Autoimmune lymphoproliferative syndrome is a rare genetic disorder characterized by defective FAS-mediated apoptosis, autoimmune disease, accumulation of mature T-cell receptor alpha/beta positive, CD4 and CD8 double-negative T cells and increased risk of lymphoma. Despite frequent hematologic abnormalities, literatur...

journal_title：Haematologica

authors： Xie Y,Pittaluga S,Price S,Raffeld M,Hahn J,Jaffe ES,Rao VK,Maric I

更新日期：2017-02-01 00:00:00

abstract：:Differentiation of erythroblasts to mature red blood cells involves dynamic changes of the membrane and cytoskeleton networks that are not fully characterized. Using a mouse fetal liver erythroblast culture system and a targeted shRNA functional screening strategy, we identified a critical role of pleckstrin-2 in acti...

journal_title：Haematologica

authors： Zhao B,Keerthivasan G,Mei Y,Yang J,McElherne J,Wong P,Doench JG,Feng G,Root DE,Ji P

更新日期：2014-07-01 00:00:00

abstract：:The tumor suppressor phosphatase and tensin homolog (PTEN) negatively regulates phosphatidylinositol 3-kinase (PI3K)-AKT signaling and is often inactivated by mutations (including deletions) in a variety of cancer types, including T-cell acute lymphoblastic leukemia. Here we review mutation-associated mechanisms that ...

journal_title：Haematologica

authors： Mendes RD,Canté-Barrett K,Pieters R,Meijerink JP

更新日期：2016-09-01 00:00:00

abstract：:Leukemia stem cells contribute to drug-resistance and relapse in chronic myeloid leukemia (CML) and BCR-ABL1 inhibitor monotherapy fails to eliminate these cells, thereby necessitating alternate therapeutic strategies for patients CML. The peroxisome proliferator-activated receptor-γ (PPARγ) agonist pioglitazone downr...

journal_title：Haematologica

authors： Kumar H,Chattopadhyay S,Das N,Shree S,Patel D,Mohapatra J,Gurjar A,Kushwaha S,Singh AK,Dubey S,Lata K,Kushwaha R,Mohammed R,Dastidar KG,Yadav N,Vishwakarma AL,Gayen JR,Bandyopadhyay S,Chatterjee A,Jain MR,Tripathi

更新日期：2020-04-01 00:00:00

abstract：:Lenalidomide is a very active drug in myelodysplastic syndrome with del (5q). We report such a patient treated with this drug who developed unusual complex cytogenetic abnormalities, which were elucidated by multi-FISH and FISH analysis as jumping translocations involving the long arm of chromosome 5, that resulted in...

journal_title：Haematologica

authors： Eclache V,Da Rocha A,Le Roux G,Fenaux P

更新日期：2008-02-01 00:00:00

abstract：:We report on a patient with relapsed chronic lymphocytic leukemia (CLL) treated with the novel mTOR inhibitor RAD001 within a phase II clinical trial. Although the patient initially responded to therapy, RAD001 was discontinued after 32 weeks due to progression and fludarabine-based chemotherapy was started. The patie...

journal_title：Haematologica

authors： Götze KS,Hoffmann D,Schätzl HM,Peschel C,Fend F,Decker T

更新日期：2007-09-01 00:00:00

abstract：BACKGROUND:During the final stages of differentiation of mammalian erythroid cells, the chromatin is condensed and enucleated. We previously reported that Rac GTPases and their downstream target, mammalian homolog of Drosophila diaphanous 2 (mDia2), are required for enucleation of in vitro cultured mouse fetal liver er...

journal_title：Haematologica

authors： Ji P,Yeh V,Ramirez T,Murata-Hori M,Lodish HF

更新日期：2010-12-01 00:00:00

abstract：:Hematopoietic differentiation is driven by transcription factors, which orchestrate a finely tuned transcriptional network. At bipotential branching points lineage decisions are made, where key transcription factors initiate cell type-specific gene expression programs. These programs are stabilized by the epigenetic a...

journal_title：Haematologica

authors： Herkt SC,Kuvardina ON,Herglotz J,Schneider L,Meyer A,Pommerenke C,Salinas-Riester G,Seifried E,Bonig H,Lausen J

更新日期：2018-01-01 00:00:00

abstract：:Inherited factor VIl (FVII) deficiency is a rare autosomal recessive coagulation disorder characterized by a wide genet-ic heterogeneity and a poor relationship between FVII activity (FVII:C) levels and severity of the hemorrhagic diathesis. Given both the rarity and the heterogeneity of this disorder,genotype-phenoty...

journal_title：Haematologica

authors： Giansily-Blaizot M,Aguilar-Martinez P,Schved JF

更新日期：2002-03-01 00:00:00

abstract：:A probabilistic model was used to compare cryoprecipitate to viral inactivated, commercial fibrinogen concentrate to evaluate with regard to the recipient's risk of exposure to an emergent AIDS-like epidemic. In patients who occasionally need a therapeutic dose of fibrinogen, commercial fibrinogen would be marginally ...

journal_title：Haematologica

authors： Pereira A

更新日期：2007-06-01 00:00:00

abstract：:We report on five Caucasian patients with congenital polycythemia and mutations of the von Hipple-Lindau (VHL) gene: a compound heterozygote for the novel exon 1 (VHL 235C->T) and previously reported VHL 562C->G mutations; three homozygotes for Chuvash VHL 598C->T mutation; and a heterozygote for VHL 523->G mutation w...

journal_title：Haematologica

authors： Bento MC,Chang KT,Guan Y,Liu E,Caldas G,Gatti RA,Prchal JT

更新日期：2005-01-01 00:00:00

abstract：:We report on a case of acute myeloid leukemia in a 17-year old boy affected by Shwachman Diamond syndrome (SDS). Conventional cytogenetics at diagnosis revealed an abnormal clone with complex karyotypic changes including typical myeloid aberrations, such as monosomy 5, tetrasomy of chromosome 8, trisomy 9, and deletio...

journal_title：Haematologica

authors： Spirito FR,Crescenzi B,Matteucci C,Martelli MF,Mecucci C

更新日期：2000-11-01 00:00:00

abstract：:Systemic AL amyloidosis, a disease with improving outcomes using novel therapies, is increasingly recognized in the elderly but treatment and outcomes have not been systematically studied in this group of patients in whom comorbidities and frailty may compound morbidity and mortality. We report the outcomes of 295 pat...

journal_title：Haematologica

authors： Sachchithanantham S,Offer M,Venner C,Mahmood SA,Foard D,Rannigan L,Lane T,Gillmore JD,Lachmann HJ,Hawkins PN,Wechalekar AD

更新日期：2015-11-01 00:00:00

abstract：BACKGROUND AND OBJECTIVES:Anaplastic lymphoma kinase (ALK) oncogenic fusion proteins, expressed in about 60% of anaplastic large cell lymphomas (ALCL), are tumor-specific molecular targets for such a malignancy. One of the promising ALK-targeted therapeutic options is cancer vaccination. In this study, we investigate w...

journal_title：Haematologica

authors： Passoni L,Gallo B,Biganzoli E,Stefanoni R,Massimino M,Di Nicola M,Gianni AM,Gambacorti-Passerini C

更新日期：2006-01-01 00:00:00

abstract：BACKGROUND AND OBJECTIVES:High levels of erythrocyte destruction in sickle cell anemia (SCA) result in chronic hyperbilirubinemia, with cholelithiasis occurring in a subset of patients. We investigated whether susceptibility to cholelithiasis in SCA was associated with the promoter polymorphism of the 5?-diphosphate-gl...

journal_title：Haematologica

authors： Chaar V,Kéclard L,Diara JP,Leturdu C,Elion J,Krishnamoorthy R,Clayton J,Romana M

更新日期：2005-02-01 00:00:00

abstract：BACKGROUND:Hematocrit above the normal range for the population, such as in primary or secondary erythrocytosis, predisposes to both arterial and venous thrombosis. However, little is known about the association between hematocrit and risk of venous thromboembolism in a general population. DESIGN AND METHODS:Hematocri...

journal_title：Haematologica

authors： Braekkan SK,Mathiesen EB,Njølstad I,Wilsgaard T,Hansen JB

更新日期：2010-02-01 00:00:00