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Fiona Bamforth

Publications and source records attributed to Fiona Bamforth.

6 recordsLinked to original sources
PubMed2007

HMDB: the Human Metabolome Database.

The Human Metabolome Database (HMDB) is currently the most complete and comprehensive curated collection of human metabolite and human metabolism data in the world. It contains records for more than 2180 endogenous metabolites with information gathered from thousands of books, journal articles and electronic databases. In addition to its comprehensive literature-derived data, the HMDB also contains an extensive collection of experimental metabolite concentration data compiled from hundreds of mass spectra (MS) and Nuclear Magnetic resonance (NMR) metabolomic analyses performed on urine, blood and cerebrospinal fluid samples. This is further supplemented with thousands of NMR and MS spectra collected on purified, reference metabolites. Each metabolite entry in the HMDB contains an average of 90 separate data fields including a comprehensive compound description, names and synonyms, structural information, physico-chemical data, reference NMR and MS spectra, biofluid concentrations, disease associations, pathway information, enzyme data, gene sequence data, SNP and mutation data as well as extensive links to images, references and other public databases. Extensive searching, relational querying and data browsing tools are also provided. The HMDB is designed to address the broad needs of biochemists, clinical chemists, physicians, medical geneticists, nutritionists and members of the metabolomics community. The HMDB is available at: www.hmdb.ca.

Databases, Factual↗
PubMed2006

Incomplete pediatric reference intervals for the management of patients with inborn errors of metabolism.

OBJECTIVES: To evaluate the status of pediatric reference intervals for several biomarkers of inborn errors of metabolism (IEM). INTRODUCTION: There are several biomarkers that are used in many laboratories that specialize in biochemical genetics. Among them, there are acylcarnitines, total carnitine, amino acids, essential fatty acids, phytanic acid and very long chain fatty acids. These tests are key to exclusion or inclusion of an IEM, therefore appropriate age-related references intervals are crucial. A detailed review of each selected analyte is given. RESULTS: Published reference intervals do not always address the dependency of age, gender, or ethnic background; they are not established for newer laboratory methodologies and are derived from a limited number of healthy controls for most markers. CONCLUSIONS: To address the gap in pediatric reference intervals, the Canadian research project (CALIPER database) will establish comprehensive reference intervals for acylcarnitines, total carnitine, amino acids, essential fatty acids, phytanic acid, and very long chain fatty acids. All the tests will be limited to whole blood, plasma and serum samples.

Biomarkers↗
PubMed2006

B-type natriuretic peptide in pediatrics.

OBJECTIVES: There has been growing interest in the use of serum B-type natriuretic peptide (BNP) and the N-terminal segment of its pro-hormone (NT-proBNP) as biomarkers for cardiac disease. The aim of this review is to summarize the current state of knowledge regarding BNP and NT-proBNP measurement in the pediatric population. DESIGN AND METHODS: A computerized literature search on the National Library of Medicine was done and all articles including BNP and pediatrics were selected and discussed. RESULTS: The data from several studies suggest that the measurement of BNP may be useful in diagnosing and managing pediatric heart failure, congenital heart disease, cardiac transplantation and patients on chemotherapy. There are difficulties in establishing appropriate reference ranges in children. CONCLUSION: There is insufficient evidence for the routine use of BNP or NT-proBNP. Further research to clearly define the clinical utility in the pediatric age group is eagerly anticipated.

Child↗
PubMed2004

Why zygosity of multiple births is not always obvious: an examination of zygosity testing requests from twins or their parents.

This paper examines why parents of twins or adult twins themselves request zygosity testing. Of 405 multiples including 8 sets of triplets, the majority (93%) were monozygotic. Age of testing ranged from 0 days to 73 years. About 50% of requests came from parents or twins who were curious about, or expressed a need to be certain of, their zygosity. Other reasons included health concerns (current or future), other twins in the family, and misinformation about zygosity, frequently because of the erroneous assumption that all dichorionic twins are dizygotic. Parents of monozygotic twins may expect their twins to be 'identical' and believe their twins to be dizygotic because of minor phenotypic differences between them. Dizygotic twins like other siblings may share a phenotypic resemblance. Health professionals should be aware that zygosity of multiples may not always be obvious to parents and that accurate knowledge of zygosity may be justified.

Adolescent↗
PubMed2003

Mechanisms of monozygotic (MZ) twinning: a possible role for the cell adhesion molecule, E-cadherin.

Monozygotic (MZ) twins account for about one-third of all twins. Most MZ twins arise sporadically but there are familial occurrences. The causes of MZ twinning are largely speculative but involve both genetic and environmental factors. Genetic factors could include cell adhesion molecules and factors involved in growth and differentiation of the placenta and fetus. In this study, we examine the possible role of E-cadherin, a cell adhesion molecule, in the causation of twinning. A common polymorphism in the E-cadherin gene reduces expression of E-cadherin by up to 68%. We examined the E-cadherin polymorphism in DNA extracted from placental tissue from 121 MZ twins, 99 DZ twins, and 93 singletons. There was no significant difference in the distribution of the E-cadherin polymorphism in MZ twins although there was a slight over-representation of homozygotes for the polymorphism in MZ twins. We conclude that there is insufficient evidence to suggest that decreased E-cadherin expression alone is a causative factor in MZ twinning but it could be a contributory factor along with other genetic and environmental influences.

Cadherins↗