The C677T MTHFR gene mutation is not predictive of risk for recurrent fetal loss.

Abstract:

:We have investigated the potency of the C677T mutation in the methylene tetrahydrofolate reductase (MTHFR) gene as a genetic risk factor in women with a history of early (12 weeks gestation) recurrent miscarriage (three or more consecutive pregnancy losses). Fifty-seven of the total 173 (32. 9%) patients were heterozygous for the MTHFR mutation, 14/173 (8.1%) were homozygous (allele frequency 0.25). The prevalence of the MTHFR mutation in these women did not differ significantly from that in the control group of parous women with uneventful pregnancies, where 30/67 (44.8%) were heterozygous and 6/67 (9.0%) homozygous for the mutation (allele frequency 0.31; odds ratio for homozygous T/T 0.90, 95% CI 0.30-2.4). There was no association between the trimester of pregnancy loss and MTHFR genotype. We conclude that the C677T MTHFR mutation is not a risk predictor in women with a history of early or late recurrent miscarriage.

journal_name

Br J Haematol

authors

Holmes ZR,Regan L,Chilcott I,Cohen H

subject

Has Abstract

pub_date

1999-04-01 00:00:00

pages

98-101

issue

1

eissn

0007-1048

issn

1365-2141

journal_volume

105

pub_type

杂志文章
  • Acute tumour lysis syndrome: a case in AL amyloidosis.

    abstract::Tumour lysis syndrome (TLS) in plasma cell dyscrasias is extremely rare. TLS has been described in eight cases of multiple myeloma undergoing high-dose therapy with autologous stem cell transplant (ASCT). Recently, clinical trials of intensive chemotherapy followed by autologous or allogeneic stem cell support has bee...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1999.01719.x

    authors: Akasheh MS,Chang CP,Vesole DH

    更新日期:1999-11-01 00:00:00

  • Immune parameter analysis of children with sickle cell disease on hydroxycarbamide or chronic transfusion therapy.

    abstract::Sickle cell disease (SCD) is increasingly appreciated as an inflammatory condition associated with alterations in immune phenotype and function. In this cross-sectional study we performed a multiparameter analysis of 18 immune markers in 114 paediatric SCD patients divided by treatment group [those receiving hydroxycr...

    journal_title:British journal of haematology

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.1111/bjh.13326

    authors: Nickel RS,Osunkwo I,Garrett A,Robertson J,Archer DR,Promislow DE,Horan JT,Hendrickson JE,Kean LS

    更新日期:2015-05-01 00:00:00

  • The role for liver biopsy in haemophiliacs infected with the hepatitis C virus.

    abstract::Assessment of chronic hepatitis C virus infection requires a liver biopsy in most circumstances. There is a reluctance to perform liver biopsy in haemophiliacs because of a perceived risk of haemorrhage, although with adequate factor concentrate replacement in patients without factor concentrate inhibitors it should b...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1997.452691.x

    authors: Wong VS,Baglin T,Beacham E,Wight DD,Petrik J,Alexander GJ

    更新日期:1997-05-01 00:00:00

  • Stage I/II follicular lymphoma: spread of bcl-2/IgH+ cells in blood and bone marrow from primary site of disease and possibility of clearance after involved field radiotherapy.

    abstract::Stage I/IIA follicular lymphoma (FL) is considered a localised disease that can be adequately treated with radiotherapy alone. Bone marrow (BM) and peripheral blood (PB) involvement in FL was investigated by polymerase chain reaction (PCR) in a series of 24 consecutive patients with histologically revised diagnosis an...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2007.06545.x

    authors: Pulsoni A,Starza ID,Frattarelli N,Ghia E,Carlotti E,Cavalieri E,Matturro A,Tempera S,Rambaldi A,Foà R

    更新日期:2007-05-01 00:00:00

  • Polymorphisms in innate immunity genes and risk of non-Hodgkin lymphoma.

    abstract::Genetic variation in innate immunity may alter host-pathogen defence mechanisms and promote aberrant immune responses and non-Hodgkin lymphoma (NHL). To test this hypothesis, we investigated polymorphisms in innate immune genes in a pooled analysis of two population-based case-control studies of NHL from the San Franc...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2006.06141.x

    authors: Forrest MS,Skibola CF,Lightfoot TJ,Bracci PM,Willett EV,Smith MT,Holly EA,Roman E

    更新日期:2006-07-01 00:00:00

  • Paediatric B-cell precursor acute lymphoblastic leukaemia with t(1;19)(q23;p13): clinical and cytogenetic characteristics of 47 cases from the Nordic countries treated according to NOPHO protocols.

    abstract::The translocation t(1;19)(q23;p13)/der(19)t(1;19) is a risk stratifying aberration in childhood B-cell precursor acute lymphoblastic leukaemia (BCP ALL) in the Nordic countries. We have identified 47 children/adolescents with t(1;19)/der(19)t(1;19)-positive BCP ALL treated on two successive Nordic Society of Paediatri...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2011.08824.x

    authors: Andersen MK,Autio K,Barbany G,Borgström G,Cavelier L,Golovleva I,Heim S,Heinonen K,Hovland R,Johannsson JH,Johansson B,Kjeldsen E,Nordgren A,Palmqvist L,Forestier E

    更新日期:2011-10-01 00:00:00

  • CD34+-selected peripheral blood progenitor cell transplantation in patients with multiple myeloma: tumour cell contamination and outcome.

    abstract::Thirty-six patients with multiple myeloma (23 PR1, nine PR2, four stable disease) were entered into a pilot study evaluating the use of CD34+-selected peripheral blood progenitor cell transplantation (PBPCT) following high-dose melphalan alone or high-dose melphalan and total body irradiation. Peripheral blood progeni...

    journal_title:British journal of haematology

    pub_type: 临床试验,杂志文章

    doi:10.1046/j.1365-2141.1999.01133.x

    authors: Gupta D,Bybee A,Cooke F,Giles C,Davis JG,McDonald C,Armitage SE,McGuigan D,Lyttelton MP,Kanfer EJ,Apperley JF,Samson D

    更新日期:1999-01-01 00:00:00

  • Recruitment of primitive peripheral blood cells: synergism of interleukin 12 with interleukin 6 and stem cell factor.

    abstract::Interleukin-12 (IL-12), a heterodimeric cytokine with potent biological activity, was evaluated for effects on proliferation of human immature progenitor cells in vitro. In vitro proliferation of 5-FU-resistant CD34+ (G0) peripheral blood stem cells (PBSC) in response to sequential cytokine stimulation was examined in...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:

    authors: Grafte-Faure S,Leveque C,Vasse M,Soria C,Vannier JP

    更新日期:1999-04-01 00:00:00

  • A novel CSF-1 binding factor in a patient in complete remission following cytotoxic therapy for lymphoma.

    abstract::A novel colony stimulating factor-1 (CSF-1) binding factor present in the serum from a patient in remission from lymphoma is described. Radioimmunoassay (RIA) repeatedly failed to detect circulating levels of CSF-1 in the peripheral blood system of this patient. Molecular analysis showed a normal CSF-1 gene structure ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1995.tb08937.x

    authors: Baker AH,Cachia PG,Tennant GB,Whittaker JA,White D,Stanley ER,Burnett AK,Padua RA

    更新日期:1995-01-01 00:00:00

  • An association between chronic neutrophilic leukaemia and multiple myeloma with a study of cobalamin-binding proteins.

    abstract::Two patients are described who had evidence of both multiple myeloma and chronic neutrophilic leukaemia at or near the time of presentation. Descriptions of five similar patients were found in the literature supporting an association between the two disorders. This association is further evidence of a link between mye...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1986.tb07507.x

    authors: Lewis MJ,Oelbaum MH,Coleman M,Allen S

    更新日期:1986-05-01 00:00:00

  • Collection of peripheral blood stem cells from normal donors 60 years of age or older.

    abstract::We report 14 normal peripheral blood stem cell (PBSC) donors > or = 60 years of age who had cytokine mobilization followed by PBSC apheresis for allogeneic transplantation. Mobilization was achieved with filgrastim (6 microg/kg twice daily). Their median age was 63.5 years (range 60-77), and 43% had a positive medical...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1997.302677.x

    authors: Anderlini P,Przepiorka D,Lauppe J,Seong D,Giralt S,Champlin R,Körbling M

    更新日期:1997-05-01 00:00:00

  • Haemoglobin F levels in sudden infant deaths.

    abstract::Fetal haemoglobin levels have been measured prospectively in 135 autopsy cases of sudden, unexpected infant deaths (31 pre-term, 104 full term) using standard laboratory methods. These results have been compared with Hb F values from a normal control group of 570 living infants (145 pre-term, 425 full-term) with a pos...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1992.tb06440.x

    authors: Fagan DG,Walker A

    更新日期:1992-10-01 00:00:00

  • HPA-1 typing by PCR amplification with sequence-specific primers (PCR-SSP): a rapid and simple technique.

    abstract::A DNA-based method was developed to genotype donors for the human platelet antigens HPA-1a and -1b. Sequence-specific primers (SSP) were used in the polymerase chain reaction (PCR) which allowed the HPA-1a/1a, -1b/1b and -1a/1b genotypes to be determined by PCR alone, no second analytical stage was required. 10 donors...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1993.tb08680.x

    authors: Metcalfe P,Waters AH

    更新日期:1993-09-01 00:00:00

  • Congenital dyserythropoiesis with intererythroblastic chromatin bridges and ultrastructurally-normal erythroblast heterochromatin: a new disorder.

    abstract::Two non-anaemic subjects, a father and daughter, with a new form of congenital dyserythropoiesis are reported. The features of their disorder are: (1) an abnormal blood film with basophilic stippling of red cells and oval macrocytes, (2) various dysplastic changes in the erythroblasts, including internuclear chromatin...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1998.01058.x

    authors: Wickramasinghe SN,Spearing RL,Hill GR

    更新日期:1998-12-01 00:00:00

  • Risk factor analysis of cerebral white matter hyperintensities in children with sickle cell disease.

    abstract::Sickle cell disease (SCD) is complicated by silent cerebral infarcts, visible as white matter hyperintensities (WMHs) on magnetic resonance imaging (MRI). Both local vaso-occlusion, elicited by endothelial dysfunction, and insufficiency of cerebral blood flow (CBF) have been proposed to be involved in the aetiology. W...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.13819

    authors: van der Land V,Mutsaerts HJ,Engelen M,Heijboer H,Roest M,Hollestelle MJ,Kuijpers TW,Nederkoorn PJ,Cnossen MH,Majoie CB,Nederveen AJ,Fijnvandraat K

    更新日期:2016-01-01 00:00:00

  • Is it possible to cure childhood acute myeloid leukaemia without significant cardiotoxicity?

    abstract::Since cardiotoxicity is a life threatening late effect, a reduction of cardiotoxicity in the treatment of acute myeloid leukaemia (AML) is essential. This review is a compilation of the current knowledge about cardiotoxicity after AML treatment and of how future directions in treatment may affect its incidence. A tota...

    journal_title:British journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/bjh.14374

    authors: Jarfelt M,Andersen NH,Hasle H

    更新日期:2016-11-01 00:00:00

  • Bone morphogenetic protein 4 modulates c-Kit expression and differentiation potential in murine embryonic aorta-gonad-mesonephros haematopoiesis in vitro.

    abstract::The transforming growth factor-beta-related factor bone morphogenetic protein 4 (BMP4) is expressed in the human embryonic aorta-gonad-mesonephros (AGM) coincident with the emergence of haematopoietic cells and influences postnatal mammalian haematopoietic stem cells in vitro. To investigate the role of BMP4 in mammal...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2007.06795.x

    authors: Marshall CJ,Sinclair JC,Thrasher AJ,Kinnon C

    更新日期:2007-10-01 00:00:00

  • Enhanced complement-susceptibility and dysfunction of lymphocytes in paroxysmal nocturnal haemoglobinuria (PNH).

    abstract::We investigated the complement-susceptibility of paroxysmal nocturnal haemoglobinuria (PNH) lymphocytes in relation to their dysfunction. When assessed by complement-mediated lysis induced by monoclonal antibodies (CD5 or CD20) and rabbit complement, the complement-susceptibility of lymphocytes from patients with PNH,...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1990.tb07913.x

    authors: Tomiyama J,Ninomiya H,Abe T

    更新日期:1990-12-01 00:00:00

  • Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency.

    abstract::Two single-nucleotide substitutions in PKLR constituted the molecular basis underlying pyruvate kinase (PK) deficiency in a patient with severe haemolytic anaemia. One novel mutation, IVS5+1G>A, abolished the intron 5 donor splice site. The other mutation, c.1436G>A, altered the intron 10 donor splice site consensus s...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2004.04895.x

    authors: Wijk R,van Wesel AC,Thomas AA,Rijksen G,van Solinge WW

    更新日期:2004-04-01 00:00:00

  • pH is a potent modulator of erythroid differentiation.

    abstract::Physiological parameters such as pH and oxygen tension probably play significant roles in the regulation of haemopoiesis in the bone marrow microenvironment, but these roles have yet to be characterized in detail. We have found that changes in culture pH (0.2 units) can cause significant changes in the culture composi...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1998.00975.x

    authors: McAdams TA,Miller WM,Papoutsakis ET

    更新日期:1998-11-01 00:00:00

  • Progress in understanding the pathogenesis of Langerhans cell histiocytosis: back to Histiocytosis X?

    abstract::Langerhans cell histiocytosis (LCH), the most common histiocytic disorder, is characterized by the accumulation of CD1A(+) /CD207(+) mononuclear phagocytes within granulomatous lesions that can affect nearly all organ systems. Historically, LCH has been presumed to arise from transformed or pathologically activated ep...

    journal_title:British journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/bjh.13247

    authors: Berres ML,Merad M,Allen CE

    更新日期:2015-04-01 00:00:00

  • Use of eltrombopag after romiplostim in primary immune thrombocytopenia.

    abstract::The thrombopoietin receptor agonists (THPO-RAs), romiplostim and eltrombopag, are effective and safe in immune thrombocytopenia (ITP). However, the value of their sequential use when no response is achieved or when adverse events occur with one THPO-RA has not been clearly established. Here we retrospectively evaluate...

    journal_title:British journal of haematology

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.1111/bjh.13266

    authors: González-Porras JR,Mingot-Castellano ME,Andrade MM,Alonso R,Caparrós I,Arratibel MC,Fernández-Fuertes F,Cortti MJ,Pascual C,Sánchez-González B,Bernat S,Fuertes-Palacio MA,Vázquez-Paganini JA,Olivera PE,Alvarez-Román MT,Jarq

    更新日期:2015-04-01 00:00:00

  • The effect of cytotoxic drugs on neutrophil phagocytosis in vitro and in patients with acute myelogenous leukaemia.

    abstract::The in vitro effects of a range of concentrations of cyclophosphamide, doxorubicin, actinomycin D, cytarabine and methotrexate on neutrophil phagocytosis of C. albicans was studied. The reduction in phagocytic index (PI) was inversely proportional to the dilution of the drug and there was some inhibition of phagocytos...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1976.tb01871.x

    authors: Davies JE,Whittaker JA,Khurshid M

    更新日期:1976-01-01 00:00:00

  • Chronic granulocytic leukaemia presenting with an extramedullary T lymphoblastic crisis.

    abstract::A 33-year-old man presented with hepatosplenomegaly and lymphadenopathy. Bone marrow findings were consistent with Philadelphia-positive accelerated-phase chronic granulocytic leukaemia (CGL). Lymph node histology and immunhistochemistry were diagnostic of T lymphoblastic lymphoma. Molecular studies on lymph node DNA ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1994.tb05050.x

    authors: Jacob A,Rowlands DC,Patton N,Holmes JA

    更新日期:1994-10-01 00:00:00

  • Phase I study of cord blood-derived natural killer cells combined with autologous stem cell transplantation in multiple myeloma.

    abstract::Multiple myeloma (MM) is a disease with known immune dysregulation. Natural killer (NK) cells have shown preclinical activity in MM. We conducted a first-in-human study of umbilical cord blood-derived (CB) NK cells for MM patients undergoing high dose chemotherapy and autologous haematopoietic stem cell transplantatio...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.14570

    authors: Shah N,Li L,McCarty J,Kaur I,Yvon E,Shaim H,Muftuoglu M,Liu E,Orlowski RZ,Cooper L,Lee D,Parmar S,Cao K,Sobieiski C,Saliba R,Hosing C,Ahmed S,Nieto Y,Bashir Q,Patel K,Bollard C,Qazilbash M,Champlin R,Rezvani

    更新日期:2017-05-01 00:00:00

  • Poor response to intensive chemotherapy in de novo acute myeloid leukaemia with trilineage myelodysplasia. Japan Adult Leukaemia Study Group (JALSG).

    abstract::The findings of morphologically dysplastic features in haemopoietic cells in de novo acute myeloid leukaemia (AML) has been named AML with trilineage myelodysplasia (AML/TMDS). We analysed the clinical data, karyotypes, and treatment outcomes of 230 de novo AML patients treated with the Japan Adult Leukaemia Study Gro...

    journal_title:British journal of haematology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1111/j.1365-2141.1994.tb04827.x

    authors: Kuriyama K,Tomonaga M,Matsuo T,Kobayashi T,Miwa H,Shirakawa S,Tanimoto M,Adachi K,Emi N,Hiraoka A

    更新日期:1994-04-01 00:00:00

  • Increased leucocyte apoptosis in transfused β-thalassaemia patients.

    abstract::This exploratory study assessed apoptosis in peripheral blood leucocytes (PBL) from β-thalassaemia patients receiving chronic transfusions and chelation therapy (deferasirox or deferoxamine) at baseline, 1, 6, and 12 months. At baseline, thalassaemic PBLs presented 50% greater levels of Bax (BAX), 75% higher caspase-3...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.12076

    authors: Walter PB,Porter J,Evans P,Kwiatkowski JL,Neufeld EJ,Coates T,Giardina PJ,Grady RW,Vichinsky E,Olivieri N,Trachtenberg F,Alberti D,Fung E,Ames B,Higa A,Harmatz P,Thalassemia Clinical Research Network.

    更新日期:2013-02-01 00:00:00

  • The incidence of trisomy 3 in splenic lymphoma with villous lymphocytes: a study by FISH.

    abstract::Splenic lymphoma with villous lymphocytes (SLVL) is a low-grade B-cell lymphoproliferative disorder characterized by splenomegaly and circulating villous lymphocytes. The relationship between SLVL and splenic marginal zone lymphoma (SMZL), a disorder with identical splenic histology to SLVL, is not clear. Previous stu...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1999.01209.x

    authors: Gruszka-Westwood AM,Matutes E,Coignet LJ,Wotherspoon A,Catovsky D

    更新日期:1999-03-01 00:00:00

  • Occurrence of acute leukaemia in myeloproliferative disorders.

    abstract::In a series of 306 cases of myeloproliferative disorders followed over a period of 21 years, 18 cases of well-documented acute leukaemia were encountered. Leukaemias were either acute myeloblastic or myelomonocytic and occurred from 6 months to 20 years after the initial diagnosis. Onset was relatively abrupt and the ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1977.tb00661.x

    authors: Rosenthal DS,Moloney WC

    更新日期:1977-07-01 00:00:00

  • Diagnostic markers for CNS lymphoma in blood and cerebrospinal fluid: a systematic review.

    abstract::Diagnosing central nervous system (CNS) lymphoma remains a challenge. Most patients have to undergo brain biopsy to obtain tissue for diagnosis, with associated risks of serious complications. Diagnostic markers in blood or cerebrospinal fluid (CSF) could facilitate early diagnosis with low complication rates. We perf...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.15410

    authors: van Westrhenen A,Smidt LCA,Seute T,Nierkens S,Stork ACJ,Minnema MC,Snijders TJ

    更新日期:2018-08-01 00:00:00