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Biomedical subjects

P Mayne

Publications and source records attributed to P Mayne.

18 recordsLinked to original sources
PubMed2006

Homocysteine in assisted reproduction: does oestradiol influence homocysteine levels?

Steroid hormones including oestradiol have been identified as non-genetic factors that may influence plasma homocysteine. In advanced assisted reproduction, plasma oestradiol levels fluctuate markedly during the treatment cycle starting with normal followed by sub- and then supra-physiological levels. Because of the diverse harmful effects that hyperhomocysteinaemia has been associated with, it is imperative to understand how it may be manipulated during assisted reproduction. A total of 30 women undergoing treatment for infertility were recruited and followed through an advanced assisted reproduction cycle. Blood samples were analysed for oestradiol, homocysteine, vitamin B12, red cell folate and plasma folate during each phase. All patients had normal vitamin B12 and folate levels. Predictably, oestradiol showed marked changes as patients progressed through each treatment phase. However, there were no corresponding significant fluctuations in plasma homocysteine. Oestradiol concentration does not influence plasma homocysteine in women with normal vitamin B12 and folate levels undergoing advanced assisted reproduction.

Adult↗
PubMed2005

Guidelines for the medical management of Irish children and adolescents with Down syndrome.

Down syndrome (DS) is the most common chromosomal cause of developmental disability in Ireland. Children with DS have a high incidence of associated treatable medical disorders where early intervention carries a better outcome. Currently there are no agreed protocols for the screening and management of children and adults with DS in Ireland. A cross-sectional study of 394 children and adolescents was undertaken in the Eastern Regional Health Authority (ERHA) to assess the medical needs of children and adolescents with DS, in order to develop medical management guidelines. This study provides evidence-based data that children and adolescents with DS have a high incidence of treatable medical disorders, which supports the need for the medical management guidelines presented.

Adolescent↗
PubMed2001

Genetic hemochromatosis, a Celtic disease: is it now time for population screening?

In populations of northern European ancestry, hereditary hemochromatosis (HH) is tightly linked to mutations within the hemochromatosis gene (HFE gene). Over 93% of Irish HH patients are homozygous for the HFE gene C282Y mutation, providing a reliable diagnostic marker of the disease in this population. However, the prevalence of the C282Y mutation and that of the second HFE gene mutation, H63D, have yet to be determined within the Irish population. The objective of this study was to identify the true prevalence of the genetic form of HH in the Irish population. DNA was extracted from 1002 randomly selected newborn screening cards and analyzed for the C282Y and H63D mutations within the HFE gene. Complete results were obtained from 800 cards. Mutations were identified in 364 (46%) neonates. Eight (1%) neonates were homozygous for C282Y and 8 (1%) were homozygous for H63D. One hundred and fifty-five (19%) neonates were C282Y heterozygous and 226 (28%) were H63D heterozygous. Of these, 33 (4%) carried one copy of both C282Y and H63D mutations, i.e., compound heterozygous. Allele frequencies for C282Y and H63D were 11% and 15%, respectively. The high C282Y allele frequency in the Irish population together with its close linkage to HH indicate that C282Y genotyping is the preferred screening strategy for this disease in Ireland.

Ethnicity↗
PubMed2000

Prevalence of the factor VR506Q mutation in two Irish control populations: use of a novel nested polymerase chain reaction approach.

The prevalence of factor V (FV) Leiden among normal populations has primarily been determined using blood donors. This control group is carefully selected and therefore may not accurately reflect the true prevalence within the population. We assessed the prevalence of FV Leiden within the Irish population using Guthrie card samples randomly selected from all newborns. We compared this result with the prevalence of FV Leiden within blood donors. A novel nested polymerase chain reaction (PCR) method for FV Leiden was developed for analysis of the Guthrie card samples. There was no significant difference between the allele frequency within the Guthrie card samples and blood donors (2.07% vs. 2.35%, P = 0.66)

Adult↗
PubMed2000

Concentrations of antimony in infants dying from SIDS and infants dying from other causes.

OBJECTIVES: Raised concentrations of antimony have been found in infants dying of sudden infant death syndrome (SIDS). The presumed source of this antimony is toxic gases generated from fire retardants that are present in cot mattresses. The aim of this study was to determine the role of antimony in SIDS. DESIGN: Samples of liver, brain, serum, and urine were collected from all patients dying from SIDS and a group of aged matched control infants who had died of other causes. SETTING: Nationwide study in Ireland. SUBJECTS: 52 infants dying from SIDS and 19 control infants aged > 7 days and < 1 year. RESULTS: The median concentration of antimony in the liver and brain of infants dying of SIDS was < 1 ng/g, with no difference detected between the infants dying from SIDS and the control infants. The range of antimony in the serum of infants dying of SIDS was 0.09-0.71 microg/litre (median, 0.26). Although no difference was found between infants dying from SIDS and control infants, SIDS infants were found to have higher concentrations when compared with healthy infants in the 1st year of life, probably as a result of release of antimony into serum after death. Urine antimony concentrations in infants dying from SIDS were < 3.91 ng/mg (corrected for creatinine) and similar to values found both in control infants and healthy infants. CONCLUSION: There is no evidence to support a causal role for antimony in SIDS.

Antimony↗
PubMed1999

Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.

Transferase-deficient galactosaemia, resulting from deficient activity of galactose-1-phosphate uridyltransferase (GALT), is relatively common among the Travellers, an endogamous group of commercial/industrial nomads within the Irish population. This study has estimated the incidence of classical transferase-deficient galactosaemia in Ireland and determined the underlying GALT mutation spectrum in the Irish population and in the Traveller group. Based upon a survey of newborn screening records, the incidence of classical transferase-deficient galactosaemia was estimated to be 1 in 480 and 1 in 30,000 among the Traveller and non-Traveller communities respectively. Fifty-six classical galactosaemic patients were screened for mutation in the GALT locus by standard molecular methods. Q188R was the sole mutant allele among the Travellers and the majority mutant allele among the non-Travellers (89.1%). Of the five non-Q188R mutant alleles in the non-Traveller group, one was R333G and one F194L with three remaining uncharacterized. Anonymous population screening has shown the Q188R carrier frequency to be 0.092 or 1 in 11 among the Travellers as compared with 0.009 or 1 in 107 among the non-Travellers. The Q188R mutation was shown to be in linkage disequilibrium with a Sac I RFLP flanking exon 6 of the GALT gene. This represents the first molecular genetic description of classical transferase-deficient galactosaemia in Ireland and raises intriguing questions concerning the genetic history of the Irish Travellers.

Cohort Studies↗
PubMed1998

Antimony in blood and urine of infants.

AIM: To establish a reference range for antimony in the serum and urine of infants in the first year of life. METHODS: 100 infants were selected randomly from the population. Each infant had a single blood and urine sample taken. Antimony was assayed using inductively coupled plasma mass spectrometry. RESULTS: The reference range for antimony in the serum of infants in the first year of life was established as 0.09-0.25 microgram/l. The upper 95% centile for urinary antimony, corrected for creatinine, in the same population was 2.6 ng/mg creatinine. There was a very weak correlation between the serum and urine concentrations. CONCLUSIONS: This study confirms the presence of low concentrations of antimony in the serum and urine of healthy infants.

Age Factors↗
PubMed1982

Plasma alkaline phosphatase activity: a screening test for rickets in preterm neonates.

Both rickets and raised plasma alkaline phosphatase activity are common in the preterm infant. Measurement of plasma alkaline phosphatase activity is valuable in screening for active disease and in diagnosis, but normal reference data are not available for preterm babies. In 30 consecutive preterm infants (birthweight 1580 +/- 410 g, gestational age 31 +/- 2.5 weeks) serial measurements of plasma alkaline phosphatase activity, plasma levels of calcium and inorganic phosphorus, and the pattern of alkaline phosphatase isoenzymes were made. Four patterns of changes in plasma alkaline phosphatase activity with time were seen. 4 of the 30 infants were shown to have rickets; these children and 14 of the 26 non-rachitic infants showed an increasing/peak/decreasing pattern with increasing age, but levels were much higher in the rachitic infants. The activity in all 30 was raised above the adult and childhood reference ranges at some point in time. The data suggest that an activity of five times the upper limit of the normal adult reference range is acceptable in the preterm infant but an activity higher than this may suggest rickets.

Alkaline Phosphatase↗
PubMed1981

Plasma alkaline phosphatase activity in the preterm neonate.

Rickets was diagnosed clinically and confirmed radiologically in a preterm infant at 12 weeks of age, who despite therapy with vitamin D died. Four preterm infants who were subsequently admitted to the nursery had their biochemistry followed serially as controls. All infants demonstrated a marked increase and then subsequent decrease in plasma alkaline phosphatase activity; the peak value occurring near to what should have been gestationally term. The plasma alkaline phosphatase was of bony origin. Rickets was confirmed radiologically in only one of these four infants. Rising and markedly elevated plasma alkaline phosphatase activity appears to be common in this group of infants and may represent a physiological increase in osteoblastic activity and increasing bone mineralisation in what would have been the infants' 3rd trimester of pregnancy and immediate newborn period.

Alkaline Phosphatase↗