Effect of VDR polymorphisms on growth and bone mineral density in homozygous beta thalassaemia.

Abstract:

:We examined the effect of vitamin D receptor (VDR) polymorphisms at exon 2 (FokI) and intron 8 (BsmI) on the stature and bone mineral density at femoral neck (FBMD) and lumbar spine (LBMD) in 108 prepubertal and pubertal homozygous beta thalassaemic patients, regularly treated. We found significantly shorter stature and lower LBMD and FBMD in all patients with CC VDR genotype, and significant shorter height and lower LBMD in prepubertal and pubertal female patients with BB VDR genotype. Because homozygous CC and BB VDR genotypes influence Vitamin D activity, they can be considered additional risk factors for bone disease in beta thalassaemia.

journal_name

Br J Haematol

authors

Ferrara M,Matarese SM,Francese M,Borrelli B,Coppola A,Coppola L,Esposito L

doi

10.1046/j.1365-2141.2002.03426.x

subject

Has Abstract

pub_date

2002-05-01 00:00:00

pages

436-40

issue

2

eissn

0007-1048

issn

1365-2141

pii

3426

journal_volume

117

pub_type

杂志文章
  • Prognostic value of complete remission status at end-of-treatment FDG-PET in R-CHOP-treated diffuse large B-cell lymphoma: systematic review and meta-analysis.

    abstract::This study systematically reviewed and meta-analysed the prognostic value of complete remission status at end-of-treatment (18) F-fluoro-2-deoxy-d-glucose positron emission tomography (FDG-PET) in diffuse large B-cell lymphoma (DLBCL) patients treated with rituximab, cyclophosphamide, doxorubicin, vincristine and pred...

    journal_title:British journal of haematology

    pub_type: 杂志文章,meta分析,评审

    doi:10.1111/bjh.13420

    authors: Adams HJ,Nievelstein RA,Kwee TC

    更新日期:2015-07-01 00:00:00

  • Molecular characterization of a normal Hb A2 beta-thalassaemia determinant in a Sardinian family.

    abstract::In this study we have carried out haplotype analysis at the beta-globin gene cluster and defined the beta-thalassaemia mutations in a large Sardinian family, ascertained through a proband with thalassaemia major, in which several members were carriers of a beta-thalassaemia allele characterized by microcytosis, hypoch...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1987.tb02331.x

    authors: Oggiano L,Pirastu M,Moi P,Longinotti M,Perseu L,Cao A

    更新日期:1987-10-01 00:00:00

  • Serum-free liquid marrow culture in patients with acute lymphoblastic leukaemia: a potential application to purge marrow for autologous transplantation.

    abstract::We have previously established a serum-free (SF) culture medium, which supports normal haemopoietic progenitor cell growth for at least 4 weeks as does conventional serum dependent (SD) medium. In the present study, we investigated the efficacy of such a defined SF liquid medium which sustained in vitro residual norma...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1991.tb04380.x

    authors: Da WM,Douay L,Barbu V,Fabrega S,Allieri MA,Drouet X,Deloux J,Giarratana MC,Ozsahin H,van den Akker J,Vanhaeke D,Gorin NC

    更新日期:1991-05-01 00:00:00

  • The promise of chimeric antigen receptor T cells (CARTs) in leukaemia.

    abstract::The success of genetically engineered T cells that express chimeric antigen receptors (CARTs) has been a momentous step forward in harnessing the potent cancer fighting abilities of the immune system. The efficacy seen in relapsed/refractory (r/r) acute lymphoblastic leukaemia (ALL), not only by inducing remission, bu...

    journal_title:British journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/bjh.14475

    authors: Orlowski RJ,Porter DL,Frey NV

    更新日期:2017-04-01 00:00:00

  • Myeloid-derived suppressor cells--their role in haemato-oncological malignancies and other cancers and possible implications for therapy.

    abstract::Myeloid-derived suppressor cells (MDSCs) are a heterogeneous population of immature myeloid cells at different stages of maturation that play a role in cancer tolerance and function as an immune-suppressive cell subpopulation. They utilize different mechanisms to block both innate and adaptive arms of anti-tumour immu...

    journal_title:British journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2141.2011.08678.x

    authors: Tadmor T,Attias D,Polliack A

    更新日期:2011-06-01 00:00:00

  • Association of autoantibodies against platelet glycoproteins Ib/IX and IIb/IIIa, and platelet-reactive anti-HIV antibodies in thrombocytopenic narcotic addicts.

    abstract::The levels of platelet-associated Igs (PAIgs) and plasma circulating antiplatelet antibodies were evaluated by a flow cytometric immunofluorescence assay (FCIFA), an enzyme-linked immunoassay (ELISA), and a platelet radioactive antiglobulin test (PRAT), in a group of 45 human immunodeficiency virus (HIV)-infected intr...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1996.00502.x

    authors: Gonzalez-Conejero R,Rivera J,Rosillo MC,Cano A,Rodriguez T,Vicente V

    更新日期:1996-05-01 00:00:00

  • Simultaneous SIL-TAL1 RT-PCR detection of all tal(d) deletions and identification of novel tal(d) variants.

    abstract::Site-specific deletions of the 5' part of the TAL1 gene (tal(d)) are among the most frequent non-random genetic abnormalities in T-cell acute lymphoblastic leukaemia (T-ALL). They are usually detected by PCR from DNA with several primer pairs or by Southern blot analysis. Since tal(d) lead to expression of a SIL-TAL1 ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1997.4833286.x

    authors: Delabesse E,Bernard M,Landman-Parker J,Davi F,Leboeuf D,Varet B,Valensi F,Macintyre EA

    更新日期:1997-12-01 00:00:00

  • Partial depletion of tissue factor pathway inhibitor during subcutaneous administration of unfractionated heparin, but not with two low molecular weight heparins.

    abstract::Tissue factor pathway inhibitor (TFPI) is released to circulating blood after intravenous (i.v.) and subcutaneous (s.c.) injections of heparins, and may thus contribute to the antithrombotic effect of heparins. We have recently shown that total TFPI activity, plasma free TFPI antigen, and heparin releasable TFPI were ...

    journal_title:British journal of haematology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1046/j.1365-2141.1999.01791.x

    authors: Bendz B,Hansen JB,Andersen TO,Ostergaard P,Sandset PM

    更新日期:1999-12-01 00:00:00

  • Advances in the molecular and serological diagnosis of invasive fungal infection in haemato-oncology patients.

    abstract::Current laboratory diagnostic methods for invasive fungal infection (IFI) in haemato-oncology patients are insensitive, resulting in late diagnosis and contributing to high mortality. In recent years, progress has been made in the development and evaluation of sensitive sero-diagnostic assays, including detection of g...

    journal_title:British journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2141.2004.05031.x

    authors: McLintock LA,Jones BL

    更新日期:2004-08-01 00:00:00

  • Homozygosity for dominant form of hereditary spherocytosis.

    abstract::A 6-month-old male infant with hereditary spherocytosis (HS) who was the first child of a cousin marriage is presented. The patient had splenomegaly and severe anaemia. Examination of the peripheral blood smear revealed spherocytes and the osmotic fragility of red blood cells was greatly increased. Physical examinatio...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1992.tb06473.x

    authors: Duru F,Gürgey A,Oztürk G,Yörükan S,Altay C

    更新日期:1992-11-01 00:00:00

  • Comparison of five biochemical markers of bone resorption in multiple myeloma: elevated pre-treatment levels of S-ICTP and U-Ntx are predictive for early progression of the bone disease during standard chemotherapy.

    abstract::Increased osteoclastic bone resorption is the major causal factor of bone disease in multiple myeloma. Recently, non-invasive methods have been developed for the estimation of bone resorptive activity. To evaluate the biological sensitivity and clinical usefulness of five biochemical assays for measuring the C-termina...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2003.04050.x

    authors: Abildgaard N,Brixen K,Kristensen JE,Eriksen EF,Nielsen JL,Heickendorff L

    更新日期:2003-01-01 00:00:00

  • Prospective clinical evaluation of lower cut-offs for galactomannan detection in adult neutropenic cancer patients and haematological stem cell transplant recipients.

    abstract::The recent advent of an improved commercial serum enzyme-linked immunosorbent assay (ELISA) for the detection of circulating galactomannan (GM), a major constituent of Aspergillus cell walls, has contributed to the diagnosis of invasive aspergillosis (IA) in many haematology and transplant centres. However, the optima...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2004.05140.x

    authors: Maertens J,Theunissen K,Verbeken E,Lagrou K,Verhaegen J,Boogaerts M,Eldere JV

    更新日期:2004-09-01 00:00:00

  • Platelet aggregation in response to four low molecular weight heparins and the heparinoid ORG 10172 in patients with heparin-induced thrombocytopenia.

    abstract::A simple rapid platelet aggregation test was used to evaluate cross-reactivity of four low molecular weight heparins and the heparinoid ORG 10172 in three patients with heparin-induced thrombocytopenia. The low molecular weight heparins cross-reacted in 11 out of 12 tests. The heparinoid ORG 10172 did not cross-react ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1994.tb04760.x

    authors: Keeling DM,Richards EM,Baglin TP

    更新日期:1994-02-01 00:00:00

  • Infusion of peripheral blood stem cells collected at diagnosis, with maintenance of the treatment, resulted in Ph-negative recovery in a chronic myeloid leukaemia patient in persisting aplasia on STI-571 therapy.

    abstract::In advanced chronic myeloid leukaemia patients, STI-571 produces complete haematological response in most cases and cytogenetic response in up to 50%. However, these patients often suffer periods of pancytopenia, which can lead to life-threatening complications, and is probably due to the small number of residual norm...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2002.03542.x

    authors: Lewalle P,Meuleman N,Verhest A,Bron D,Martiat P

    更新日期:2002-07-01 00:00:00

  • Lipid peroxidation of human granulocytes (PMN) and monocytes by iron complexes.

    abstract::Because the phagocytic function of non-stimulated human polymorphonuclear granulocytes (PMN) is impaired after incubation with either polynuclear Fe(III) or Fe(II), we decided to study lipid peroxidation of PMN and monocytes by these iron complexes. Lipid peroxidation was assessed by measuring thiobarbituric acid reac...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1989.tb04328.x

    authors: Hoepelman IM,Bezemer WA,van Doornmalen E,Verhoef J,Marx JJ

    更新日期:1989-08-01 00:00:00

  • Alterations in size, shape and osmotic behaviour of red cells after splenectomy: a study of their age dependence.

    abstract::In whole blood from splenectomized subjects (n = 20), red cells showed a significant increase of mean surface area (MSA), mean cell volume (MCV), MSA/MCV-ratio and osmotic resistance, with the mean cell haemoglobin concentration (MCHC) being decreased. Studies on red cell populations of different cell age revealed tha...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1988.tb07605.x

    authors: de Haan LD,Werre JM,Ruben AM,Huls HA,de Gier J,Staal GE

    更新日期:1988-05-01 00:00:00

  • Closing the survivorship gap in children and adolescents with Hodgkin lymphoma.

    abstract::The treatment of Hodgkin lymphoma (HL) is one of early success. However, disease-free survival (DFS) does not reflect latent organ injury and its impact on health status and well-being beyond 5 years. In fact, we are at a crossroads, in terms of needing individualized approaches to maintain DFS, while minimizing late ...

    journal_title:British journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/bjh.16197

    authors: Castellino SM,Parsons SK,Kelly KM

    更新日期:2019-12-01 00:00:00

  • Short-term phytohaemagglutinin-activated mononuclear cells induce endothelial progenitor cells from cord blood CD34+ cells.

    abstract::Endothelial progenitor cells (EPCs) were recently demonstrated to exist in human cord blood. Phytohaemagglutinin (PHA), a potent mitogen for mononuclear cells was used to induce EPCs from unsorted cord blood mononuclear cells (CBMCs). Adherent cells in clusters appeared approximately 24 h after CBMCs were cultured in ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2001.02694.x

    authors: Kang HJ,Kim SC,Kim YJ,Kim CW,Kim JG,Ahn HS,Park SI,Jung MH,Choi BC,Kimm K

    更新日期:2001-06-01 00:00:00

  • Risk-adapted bendamustine + rituximab is a tolerable treatment alternative for elderly patients with chronic lymphocytic leukaemia: a regional real-world report on 141 consecutive Swedish patients.

    abstract::Bendamustine + rituximab (BR) is the current first-line standard-of-care for chronic lymphocytic leukaemia (CLL) in fit patients aged 66-70 years, whereas chlorambucil + CD20 antibody is recommended in older patients with co-morbidities. This retrospective real-world study investigated whether risk-adapted BR was safe...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.17032

    authors: Mattsson A,Sylvan SE,Asklid A,Wiggh J,Winqvist M,Lundin J,Mansouri L,Rosenquist R,Johansson H,Österborg A,Hansson L

    更新日期:2020-11-01 00:00:00

  • Recent progress in relapsed multiple myeloma therapy: implications for treatment decisions.

    abstract::The availability of novel therapies for the treatment of multiple myeloma has had a dramatic impact on the depth of response that can be expected on initial treatment. Despite these advances, disease relapse remains inevitable in most patients and brings with it a different set of priorities for therapy. The most rece...

    journal_title:British journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/bjh.14780

    authors: Moreau P,de Wit E

    更新日期:2017-10-01 00:00:00

  • Identification of a novel mutation in a non-Jewish factor XI deficient kindred.

    abstract::The role of factor XI (FXI) in blood coagulation has been clarified in recent years by descriptions of FXI-deficient patients who are prone to excessive bleeding after haemostatic challenge. We have studied a large kindred of an Italian FXI-deficient patient with a previously undescribed mutation. The propositus, a 68...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1999.01150.x

    authors: Alhaq A,Mitchell M,Sethi M,Rahman S,Flynn G,Boulton P,Caeno G,Smith M,Savidge G

    更新日期:1999-01-01 00:00:00

  • Less than half of patients aged 65 years or under with myeloma proceed to transplantation: results of a two region population-based survey.

    abstract::In this population-based survey covering two geographically distinct UK regions, we evaluated the number of myeloma patients aged < or =65 years who have not undergone transplantation. The combined data from both of these regions showed that 57% of age-eligible patients were not transplanted. While early death and com...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2004.05340.x

    authors: Morris TC,Velangi M,Jackson G,Marks DI,Ranaghan L,Northern Ireland Regional Haematology Group.,Northern Regional Haematologists Group.,Clinical Trials Committee of The British Scoiety for Blood and Marrow Transplantation.

    更新日期:2005-02-01 00:00:00

  • Regression of extramedullary haemopoiesis and augmentation of fetal haemoglobin concentration during hydroxyurea therapy in beta thalassaemia.

    abstract::Hydroxyurea increases fetal haemoglobin in many patients with sickle cell anaemia, but its effectiveness in thalassaemia appears to be less consistent. We describe the response to hydroxyurea in an adult male with homozygous beta thalassaemia, symptomatic paraspinal extramedullary haemopoiesis, bone pain, and progress...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1998.00719.x

    authors: Saxon BR,Rees D,Olivieri NF

    更新日期:1998-06-01 00:00:00

  • How we manage haemostasis during sepsis.

    abstract::Sepsis may be associated with activation of the coagulation system and, in its most severe form, may result in disseminated intravascular coagulation (DIC). Initially, there is thrombosis primarily affecting small and medium sized vessels and contributing to organ dysfunction, but continued activation results in consu...

    journal_title:British journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/bjh.15821

    authors: Scully M,Levi M

    更新日期:2019-04-01 00:00:00

  • Interferon-alpha-induced morphological changes of megakaryocytes: a histomorphometrical study on bone marrow biopsies in chronic myeloproliferative disorders with excessive thrombocytosis.

    abstract::Interferon(rIFN)-alpha, a successful therapeutic agent in the control of thrombocytosis, has been shown to suppress human megakaryopoiesis. We investigated bone marrow biopsies from 12 patients with thrombocytosis due to chronic myeloproliferative disorders. Prior to treatment as well as during rIFN-alpha-2c therapy, ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1990.tb02531.x

    authors: Chott A,Gisslinger H,Thiele J,Fritz E,Linkesch W,Radaszkiewicz T,Ludwig H

    更新日期:1990-01-01 00:00:00

  • Low expression of p27 and low proliferation index do not correlate in hairy cell leukaemia.

    abstract::The molecular basis accounting for the peculiar clinical and biological features of hairy cell leukaemia (HCL) is currently unknown. Deregulation of cell cycle genes plays a significant role in oncogenesis and there is considerable evidence suggesting that Cdk inhibitors (Ckis) function as tumour suppressors. We and o...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2000.02210.x

    authors: Chilosi M,Chiarle R,Lestani M,Menestrina F,Montagna L,Ambrosetti A,Prolla G,Pizzolo G,Doglioni C,Piva R,Pagano M,Inghirami G

    更新日期:2000-10-01 00:00:00

  • Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.

    abstract::In four unrelated patients with chronic haemolysis and markedly reduced red blood cell (RBC) glutathione (49.5%, 12.6%, 11.5% and 15% of the normal concentration respectively), a severe glutathione synthetase (GSH-S, EC 6.3.2.3) deficiency was found. One case exhibited a neonatal haemolytic anaemia associated with oxo...

    journal_title:British journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1046/j.1365-2141.2001.02526.x

    authors: Corrons JL,Alvarez R,Pujades A,Zarza R,Oliva E,Lasheras G,Callis M,Ribes A,Gelbart T,Beutler E

    更新日期:2001-02-01 00:00:00

  • Effects of 3-5 log10 pre-storage leucocyte depletion on red cell storage and metabolism.

    abstract::A new, in-line high-efficiency 3-5 log10 leucodepletion filter system (Leukotrap RC system) was used to investigate the effect of pre-storage white cell removal on the quality of AS-3 red cell concentrates stored for 42 d at 4 degrees C. Median residual white cell content was 4 x 10(5) when filtration was performed at...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1994.tb04923.x

    authors: Heaton WA,Holme S,Smith K,Brecher ME,Pineda A,AuBuchon JP,Nelson E

    更新日期:1994-06-01 00:00:00

  • Roles for both cyclic GMP and cyclic AMP in the inhibition of collagen-induced platelet aggregation by nitroprusside.

    abstract::In studies on human platelets, nitroprusside (NP) alone at 1-10 micromol/l increased platelet cyclic AMP (cAMP) by 40-70%, whereas increases in cyclic GMP (cGMP) were much larger in percentage though not in concentration terms. Collagen enhanced these increases in cAMP up to fourfold, without affecting cGMP. This effe...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2002.03479.x

    authors: Jang EK,Azzam JE,Dickinson NT,Davidson MM,Haslam RJ

    更新日期:2002-06-01 00:00:00

  • Multidrug resistance mechanisms in chronic lymphocytic leukaemia.

    abstract::We evaluated the presence of P-glycoprotein (P-gp)-170, multidrug resistance protein (MRP), lung resistance protein (LRP)-56 and Bcl-2 in CD19-positive cells from 100 cases of chronic lymphocytic leukaemia (CLL). P-gp-170 was found in 73% of the CLL cases with no significant difference regarding stage or previous trea...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.0007-1048.2002.03344.x

    authors: Consoli U,Santonocito A,Stagno F,Fiumara P,Privitera A,Parisi G,Giustolisi GM,Pavone B,Palumbo GA,Di Raimondo F,Milone G,Guglielmo P,Giustolisi R

    更新日期:2002-03-01 00:00:00