Abstract:
:We describe the case of a 12-year old boy with Hoyeraal-Hreidarsson Syndrome (HHS). This syndrome includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia. HHS is a severe multisystem disorder associated with premature mortality, due to bone marrow failure. The pathogenesis and genetic basis presently is unknown. Onset of HHS has only been described in boys and reporters speculated that HHS may be a severe form of X-linked dyskeratosis congenita (DKC). In this paper, we reported an autosomal recessive form of HHS in a family. Almost all cases have died before 4 years (except one at 7 years) our patient is alive at his 12th year at all, probably because of autosomal recessive gene transmission.
journal_name
Haematologicajournal_title
Haematologicaauthors
Ozdemir MA,Karakukcu M,Kose M,Kumandas S,Gumus Hkeywords:
subject
Has Abstractpub_date
2004-09-01 00:00:00pages
ECR38issue
9eissn
0390-6078issn
1592-8721journal_volume
89pub_type
杂志文章相关文献
HAEMATOLOGICA文献大全abstract::All hematopoietic cells that develop in the bone marrow must cross the endothelial barrier to enter the blood circulation. Blood platelets, however, are released by bigger protrusions of huge progenitor cells, named megakaryocytes, and enter the blood stream as so-called proplatelets before fragmenting into mature pla...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2018.202010
更新日期:2020-04-01 00:00:00
abstract::The long-term repopulating capacity of mobilized peripheral blood (MPB) CD34+ cells can be abrogated during ex vivo expansion due to cell-cycle related changes. In this study, we traced cell cycle kinetic and quiescent status of CD34+ cells during ex vivo expansion with exogenous cytokines. The addition of interleukin...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2006-01-01 00:00:00
abstract::To identify factors associated with relapse-free survival (RFS), 80 patients with newly diagnosed Philadelphia chromosome-positive acute lymphoblastic leukemia, enrolled in a phase II study of imatinib-combined chemotherapy, were analyzed. The median follow-up of surviving patients was 26.7 months (maximum, 52.5 month...
journal_title:Haematologica
pub_type: 杂志文章,多中心研究
doi:10.3324/haematol.11891
更新日期:2008-02-01 00:00:00
abstract:BACKGROUND:Gastrointestinal bleeding is a frequent complication of liver cirrhosis (LC) and represents an important warning sign of imminent death. Platelet dysfunction is an abnormality occurring prevalently in severe liver failure, and could well predispose to bleeding. METHODS:One hundred and two patients with live...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1994-01-01 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
pub_type: 临床试验,杂志文章
doi:10.3324/haematol.2010.033159
更新日期:2011-06-01 00:00:00
abstract:BACKGROUND:Myeloproliferative neoplasms constitute a group of diverse chronic myeloid malignancies that share pathogenic features such as acquired mutations in the JAK2, TET2, CBL and MPL genes. There are recent reports that a JAK2 gene haplotype (GGCC or 46/1) confers susceptibility to JAK2 mutation-positive myeloprol...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2010.034488
更新日期:2011-03-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Imatinib induces complete cytogenetic responses (CCR) in the majority of patients with chronic myeloid leukemia (CML) in chronic phase (CP). However, a subgroup of patients is refractory at the cytogenetic level. Clinically, it would be advantageous to identify such patients a priori, since th...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2005-04-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:A progressively growing number of peripheral blood stem cell transplants (PBSCTs) are being performed in patients with newly diagnosed multiple myeloma (MM) since they are ever more frequently being offered as up-front therapy. Furthermore, there are considerable concerns regarding the appropr...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2002-11-01 00:00:00
abstract::Perforin gene (PRF1) mutations cause the primary form of hemophagocytic lymphohistiocytosis (HLH). We report a genetic defect of PRF1 in a 62-year-old Japanese man with recurrent episodes of HLH. Sequencing of PRF1 from both peripheral blood mononuclear cells and nail clippings showed compound heterozygous mutation, i...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.11233
更新日期:2007-07-01 00:00:00
abstract::Tumor microenvironment (TME) and limited immune surveillance play important roles in lymphoma pathogenesis. Here, we aimed to characterize immunological profiles of diffuse large B-cell lymphoma (DLBCL), and predict the outcome in response to immunochemotherapy. We profiled the expression of 730 immune-related genes i...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2019.243626
更新日期:2020-02-20 00:00:00
abstract:BACKGROUND AND OBJECTIVE:All-trans retinoic acid (ATRA) induces growth arrest and apoptosis in acute myeloblastic leukemia (AML) cells. Since cellular redox state regulates these events, we were interested in studying whether it has any role in the responsiveness of AML cells to ATRA. DESIGN AND METHODS:Two human AML ...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2000-03-01 00:00:00
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
pub_type: 杂志文章
doi:10.3324/haematol.12554
更新日期:2008-08-01 00:00:00
abstract::Treatment of primary breast lymphoma (PBL) remains unsatisfactory. We assess a clinical study to evaluate efficacy and toxicity of a dose dense regimen (CEOP-14) and rituximab in 32 previously untreated female patients with PBL in early stage. There was no difference in complete response rate (87%), event free-surviva...
journal_title:Haematologica
pub_type: 临床试验,信件
doi:10.3324/haematol.10892
更新日期:2007-08-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Effective gene transfer into human hematopoietic stem/progenitor cells is a compromise between achieving high transduction efficiency and maintaining the desired biological characteristics of the target cell. The aim of our work was to exploit the stromal microenvironment to increase gene tran...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2004-04-01 00:00:00
abstract::A parent whose child affected by hemophilia develops an inhibitor has to cope with strong emotions and anxieties related to the acceptance of this second diagnosis when just having severe hemophilia seems nothing compared to having antibodies that neutralize factor infusions and the possibility of uncontrolled hemorrh...
journal_title:Haematologica
pub_type: 杂志文章,评审
doi:
更新日期:2000-10-01 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
pub_type: 杂志文章
doi:10.3324/haematol.2010.029827
更新日期:2010-12-01 00:00:00
abstract::Leukemia stem cells (LSC) are more resistant to standard chemotherapy and their persistence during remission can cause relapse, which is still one of the major clinical challenges in the treatment of acute myeloid leukemia (AML). A better understanding of the mutational patterns and the prognostic impact of molecular ...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2019.225003
更新日期:2020-03-01 00:00:00
abstract::Hematopoietic stem cell (HSC) aging was originally thought to be essentially an HSC-autonomous process, which is the focus of another review in the same issue of Haematologica However, studies on the microenvironment that maintains and regulates HSC (HSC niche) over the past 20 years have suggested that microenvironme...
journal_title:Haematologica
pub_type: 杂志文章,评审
doi:10.3324/haematol.2018.211334
更新日期:2020-01-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:The differential diagnosis between multiple myeloma (MM) and monoclonal gammopathy of undetermined significance (MGUS) may be uncertain in some cases; this problem is reflected by discrepancies between different classification systems with an accordance in only 2/3 of cases. We studied whether...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2001-08-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Hepatocyte growth factor (HGF) is known to augment the effects of stem cell factor, interleukin-3, granulocyte-macrophage colony-stimulating factor (GM-CSF), erythropoetin, and granulocyte colony-stimulating factor, all of which are involved in hematopoiesis. HGF is also known to have a role in...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2000-05-01 00:00:00
abstract::Atrial natriuretic peptide (ANP) levels have been tested in patients with chronic relative polycythemia (RP), polycythemia vera, and in healthy subjects in order to find a possible underlying pathophysiological mechanism for relative polycythemia. No difference in statistical significance has been found between the me...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1989-07-01 00:00:00
abstract:BACKGROUND:The nucleoside analogue fludarabine is used in the treatment of chronic lymphocytic leukemia. It triggers p53-mediated apoptosis, although the mutational status of p53 does not fully account for heterogeneity in responsiveness to treatment. The aim of this study was to identify new genes implicated in fludar...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.13186
更新日期:2008-12-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Identification of chromosomal rearrangements is important for a precise risk-stratified diagnosis of hematologic malignancies. As the number of known translocations, specific for different types of leukemia increases, it takes ever more time and increasing amounts of patient's material to scre...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2002-04-01 00:00:00
abstract::CLLU1, located at chromosome 12q22, encodes a transcript specific to chronic lymphocytic leukemia and has potential prognostic value. We assessed the value of CLLU1 expression in the LRF CLL4 randomized trial. Samples from 515 patients with chronic lymphocytic leukemia were collected immediately before the start of tr...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2012.070201
更新日期:2013-02-01 00:00:00
abstract::This study reports a case of granulocytic sarcoma that developed in the epidural zone 25 days before clinical evidence of an acute promyelocytic leukemia. The case presented the diagnostic difficulties that are common to all aleukemic granulocytic sarcomas. Moreover, it highlights the very rare association between gra...
journal_title:Haematologica
pub_type: 杂志文章,评审
doi:
更新日期:1995-01-01 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
pub_type: 临床试验,杂志文章,多中心研究
doi:10.3324/haematol.2011.042937
更新日期:2011-12-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Mesenchymal stem cells (MSC) are progenitor cells that are capable of differentiating into mesenchymal tissues. Fetal and adult MSC have similar morphology but differ in proliferative, differentiating and immunosuppressive properties. Further exploring their differences could help in choosing ...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2005-08-01 00:00:00
abstract:BACKGROUND:Cutaneous T-cell lymphomas (CTCL) represent about the 80% of skin lymphomas and comprise a heterogeneous group of diseases with respect to clinical presentation, outcome, histologic and immunophenotypic features. In the recent years, data have been accumulated indicating that clinical and biological differen...
journal_title:Haematologica
pub_type: 杂志文章,评审
doi:
更新日期:2004-11-01 00:00:00
abstract:BACKGROUND:Novel therapies capable of targeting drug resistant clonogenic MM cells are required for more effective treatment of multiple myeloma. This study investigates the cytotoxicity of natural killer cell lines against bulk and clonogenic multiple myeloma and evaluates the tumor burden after NK cell therapy in a b...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2011.054254
更新日期:2012-07-01 00:00:00
abstract::We investigated the presence of a recombinant event between the F8A gene located in intron 22 of the factor VIII gene and the two additional copies of F8A lying 500 Kb upstream of FVIII in severe hemophilic patients. The genomic DNA of 146 unrelated Italian patients with severe hemophilia A (HA) was hybridized with an...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1997-01-01 00:00:00