Abstract:
:Vitamin B12 deficiency causes decreased Methionine Synthase and L-Methylmalonyl-CoA Mutase activity and results in accumulation of Homocysteine, Methylmalonic acid and Propionylcarnitine. Propionylcarnitine is included in tandem mass spectrometry-based newborn screening programs for detection of certain inborn errors of metabolism. We report two asymptomatic newborns with Vitamin B12 deficiency due to maternal deficiencies. One was detected incidentally at 3 weeks of age; the second on supplemental newborn screening based on elevated Propionylcarnitine at 2 days of age. This illustrates the potential for false negative results for Vitamin B12 deficiency screening by acylcarnitine profiling in newborn screening. Homocysteine and Methylmalonic acid may be better markers of Vitamin B12 deficiency. In conclusion, we suggest measuring Methylmalonic acid, Propionylcarnitine and Homocysteine levels in blood spots in expanded newborn screening in order to detect asymptomatic newborns with Vitamin B12 deficiency. Further studies are needed to establish the sensitivity of these three markers in screening for Vitamin B12 deficiency.
journal_name
Haematologicajournal_title
Haematologicaauthors
Campbell CD,Ganesh J,Ficicioglu Ckeywords:
subject
Has Abstractpub_date
2005-12-01 00:00:00pages
ECR45issue
12 Suppleissn
0390-6078issn
1592-8721journal_volume
90pub_type
杂志文章相关文献
HAEMATOLOGICA文献大全abstract:BACKGROUND:LMO2 is highly expressed at the most immature stages of lymphopoiesis. In T-lymphocytes, aberrant LMO2 expression beyond those stages leads to T-cell acute lymphoblastic leukemia, while in B cells LMO2 is also expressed in germinal center lymphocytes and diffuse large B-cell lymphomas, where it predicts bett...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2011.040568
更新日期:2011-07-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Telomerase is the enzyme that stabilizes and elongates the telomeric ends of chromosomes. It is expressed in germline and malignant cells and absent in most human somatic cells. The selective expression of telomerase has thus been proposed to be a basis for the immortality of germline and malig...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1997-05-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Myeloid leukemia of Down's syndrome (ML-DS) has characteristic biological features (e.g. expression of the truncated GATA1s), which are different from those of non-DS childhood acute myeloid leukemias (AML). The objective of this study was to investigate factors predisposing to the development...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2006-11-01 00:00:00
abstract::Reduced intensity conditioning followed by allogeneic SCT (RIC-SCT) has recently emerged as promising new salvage option for children suffering from Langerhans cell histiocytosis (LCH) with risk organ involvement and failure to conventional therapy. We report on the posttransplant course of female toddler with high-ri...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.10993
更新日期:2007-01-01 00:00:00
abstract:BACKGROUND:Long-term central venous catheters have improved the quality of care for patients with chronic illnesses, but are complicated by obstructions which can result in delay of treatment or catheter removal. DESIGN AND METHODS:This paper reviews thrombolytic treatment for catheter obstruction. Literature from Med...
journal_title:Haematologica
pub_type: 杂志文章,评审
doi:10.3324/haematol.2011.050492
更新日期:2012-05-01 00:00:00
abstract::In the eighties there has been an enormous increase in our knowledge about erythropoietin, previously defined as "an elusive hormone". In this review we summarize the structural and molecular features, the mechanisms of production and of metabolism, the more important methods of assay, the mechanism of action and the ...
journal_title:Haematologica
pub_type: 杂志文章,评审
doi:
更新日期:1990-07-01 00:00:00
abstract::Juvenile hemochromatosis is a severe form of hereditary iron overload. It can be caused by mutations in either hepcidin or hemojuvelin genes. In this study we identified the molecular basis of juvenile hemochromatosis in three Australian families and assessed the role of potential modifying genes in individuals carryi...
journal_title:Haematologica
pub_type: 信件
doi:
更新日期:2005-02-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:The efficacy and safety of added dexamethasone were assessed in patients with relapsed and/or refractory multiple myeloma who had a suboptimal response to bortezomib alone. DESIGN AND METHODS:In two previously reported, open-label, multicenter phase 2 studies, bortezomib 1.0 or 1.3 mg/m2 was ...
journal_title:Haematologica
pub_type: 杂志文章,多中心研究,随机对照试验
doi:
更新日期:2006-07-01 00:00:00
abstract::Multiple myeloma is preceded by an asymptomatic phase, comprising monoclonal gammopathy of uncertain significance and smoldering myeloma. Compared to the former, smoldering myeloma has a higher and non-uniform rate of progression to clinical myeloma, reflecting a subset of patients with higher risk. We evaluated the g...
journal_title:Haematologica
pub_type: 临床试验,杂志文章,多中心研究
doi:10.3324/haematol.2015.124651
更新日期:2015-09-01 00:00:00
abstract:BACKGROUND:We previously described a t(2;11)(p21;q23) chromosomal translocation found in patients with myelodysplasia or acute myeloid leukemia that leads to over-expression of the microRNA miR-125b, and we showed that transplantation of mice with murine stem/progenitor cells overexpressing miR-125b is able to induce l...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2011.061515
更新日期:2012-11-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:High-dose melphalan with autologous peripheral blood stem cell transplantation (ASCT) is an effective treatment for systemic primary amyloidosis. This procedure is, however, associated with substantial toxicity and mortality, particularly if the heart is involved. Refined selection of patients...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2006-12-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:A novel role for shedding of the surface molecule L-selectin has been proposed as an adjunctive phenomenon during cell detachment from marrow stroma or vessel endothelium. We wished to examine whether variations in expression of L-selectin on a lymphoma B cell line were linked to shedding. DES...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1999-09-01 00:00:00
abstract::Long non-coding ribonucleic acids (RNAs) are a novel class of RNA molecules, which are increasingly recognized as important molecular players in solid and hematologic malignancies. Herein we investigated whether long non-coding RNA expression is associated with clinical and molecular features, as well as outcome of yo...
journal_title:Haematologica
pub_type: 临床试验,杂志文章
doi:10.3324/haematol.2017.166215
更新日期:2017-08-01 00:00:00
abstract::Signaling through the αβT cell receptor (TCR) is a crucial determinant of T-cell fate and can induce two opposite outcomes during thymocyte development: cell death or survival and differentiation. To date, the role played by T-cell receptor in the oncogenic transformation of developing T cells remains unclear. Here we...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2018.188359
更新日期:2018-06-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:We investigated whether cytogenetic findings (CG) on day 21 (D21) of the first course of chemotherapy predicted subsequent outcome in patients who presented with CG abnormalities. DESIGN AND METHODS:D21 CG analysis was performed in 197 patients. RESULTS:Nineteen percent of the patients had e...
journal_title:Haematologica
pub_type: 临床试验,杂志文章
doi:
更新日期:2003-07-01 00:00:00
abstract:BACKGROUND:Persistent mixed chimerism represents a state in which recipient and donor cells stably co-exist after hematopoietic stem cell transplantation. However, since in most of the studies reported in literature the engraftment state was observed in the nucleated cells, in this study we determined the donor origin ...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2010.031013
更新日期:2011-01-01 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
pub_type: 信件
doi:
更新日期:2005-12-01 00:00:00
abstract:BACKGROUND:The clonal origin of myeloproliferative disorders has been clearly demonstrated and it is known that reactive thrombocytosis occurs as a non specific response to various inflammatory or neoplastic conditions. Only a few papers have discussed the topic of myeloproliferative diseases in blood donors. MATERIAL...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1994-03-01 00:00:00
abstract::Second central nervous system (CNS) relapses represent about 7.3% of subsequent recurrences of childhood acute lymphoblastic leukemia (ALL). In most children these subsequent CNS relapses occur during the first 18 months after diagnosis of the first relapse (mean 1.42 +/- 0.73 years). We present a patient who suffered...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2004-07-01 00:00:00
abstract:UNLABELLED:BACKGROUND Very severe aplastic anemia is characterized by a hypoplastic bone marrow due to destruction of CD34(+) stem cells by autoreactive T cells. Investigation of the pathomechanism by patient-specific gene expression analysis of the attacked stem cells has previously been impractical because of the sca...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2011.056705
更新日期:2012-09-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:The clinical and immunologic activities of interleukin-2 (IL-2) in cancer patients have been extensively studied and described; however, in most of these studies, IL-2 was administered by intravenous bolus or continuous infusion, while the immunologic effects of IL-2 given by the subcutaneous (...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:2000-03-01 00:00:00
abstract::Adults with relapsed/refractory acute lymphoblastic leukemia have an unfavourable prognosis, which is influenced by disease and patient characteristics. To further evaluate these characteristics, a retrospective analysis of 1,706 adult patients with Ph-negative relapsed/refractory B-precursor acute lymphoblastic leuke...
journal_title:Haematologica
pub_type: 杂志文章,多中心研究
doi:10.3324/haematol.2016.144311
更新日期:2016-12-01 00:00:00
abstract::Mucosa-associated lymphoid tissue (MALT) lymphoma originates from a background of diverse chronic inflammatory disorders at various anatomic sites. The genetics underlying its development, particularly in those associated with autoimmune disorders, is poorly characterized. By whole exome sequencing of 21 cases of MALT...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2018.191601
更新日期:2018-08-01 00:00:00
abstract::Pediatric thromboembolism (≤18 years) is very rare (0.07-0.14/10,000/year) but may be more prevalent in children with severe thrombophilia (protein C, protein S or antithrombin deficiency). The aim of this study was to define the prevalence and clinical characteristics of pediatric thrombosis in subjects with inherite...
journal_title:Haematologica
pub_type: 杂志文章
doi:10.3324/haematol.2018.210666
更新日期:2019-12-01 00:00:00
abstract::A case of Di Guglielmo's syndrome passed through the three stages of chronic erythromyelosis, erythroleukemia and acute myeloid leukemia (AML). According to the FAB classification the subsequent stages of this syndrome were refractory anemia (RA), RA with excess of blasts (RAEB), AML-M6, AML-M2 and undifferentiated AM...
journal_title:Haematologica
pub_type: 杂志文章
doi:
更新日期:1997-07-01 00:00:00
abstract::Pathological erythropoiesis with consequent anemia is a leading cause of symptomatic morbidity in internal medicine. The etiologies of anemia are complex and include reactive as well as neoplastic conditions. Clonal expansion of erythroid cells in the bone marrow may result in peripheral erythrocytosis and polycythemi...
journal_title:Haematologica
pub_type: 杂志文章,评审
doi:10.3324/haematol.2018.192518
更新日期:2018-10-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Recently, a chimeric monoclonal antibody (MoAb) directed against the CD20 antigen (rituximab) has been successfully introduced in the treatment of several CD20-positive B-cell neoplasias and particularly of follicular lymphomas. Based on these premises we evaluated the efficacy and the toxicit...
journal_title:Haematologica
pub_type: 临床试验,杂志文章
doi:
更新日期:2001-10-01 00:00:00
abstract::We quantified Wilm's tumor gene (WT1) using a real time quantitative polymerase chain reaction in 20 adult patients with acute lymphoblastic leukemia at presentation. A WT1 level greater than 906 (median value for the whole series) was a significant predictor of a poor disease-free and overall survival in uni- and mul...
journal_title:Haematologica
pub_type: 信件
doi:
更新日期:2006-02-01 00:00:00
abstract::B-cell chronic lymphocytic leukemia-related genomic changes were analyzed by karyotyping, fluorescence in situ hybridization, and V(H) gene sequencing in a prospective clinical evaluation. The V(H) mutational status correlated with high-risk cytogenetic aberrations while no such relation could be demonstrated for spec...
journal_title:Haematologica
pub_type: 信件
doi:
更新日期:2006-10-01 00:00:00
abstract::Heart disease is the leading cause of mortality and one of the main causes of morbidity in beta-thalassemia. The clinical spectrum of the thalassemia syndrome ranges from the severe, transfusion--dependent thalassemia major and the asymptomatic carrier state. Thalassemia intermedia represents a milder form and is usua...
journal_title:Haematologica
pub_type: 杂志文章,评审
doi:10.3324/haematol.10915
更新日期:2007-05-01 00:00:00