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Biomedical subjects

A MacCarthy

Publications and source records attributed to A MacCarthy.

6 recordsLinked to original sources
PubMed2006

Retinoblastoma incidence and survival in European children (1978-1997). Report from the Automated Childhood Cancer Information System project.

Based on 2283 cases of retinoblastoma diagnosed in children aged 0-14 years, incidence and survival in Europe during the period 1978-1997 are described. Data were provided to the Automated Childhood Cancer Information System (ACCIS) from 60 paediatric and general cancer registries. During 1988-1997, the cumulative incidence of retinoblastoma in the ACCIS regions was found to be between 44.2 and 67.9 per million births. The highest incidence was seen in the first year of life. The age-standardised (World standard) incidence rate for the age-range 0-14 years was 4.1 per million. Approximately one-third of cases had bilateral tumours. Overall incidence increased over the period 1978-1997 by 1% per year, as derived from a model adjusted for sex, age group and type of registry (general or paediatric). The 5-year survival rate improved from 89% to 95% during the period covered by the study. This improvement was seen in both unilateral and bilateral cases but was significant only for the unilateral tumours. Survival was lower in the East region, although smaller differences were also observed between the other four regions (British Isles, North, South and West). Availability and quality of registration data on retinoblastoma need to be improved for effective evaluation of incidence and survival.

Adolescent↗
PubMed1993

Allelic loss of IRF1 in myelodysplasia and acute myeloid leukemia: retention of IRF1 on the 5q- chromosome in some patients with the 5q- syndrome.

Acquired interstitial deletions of the long arm of chromosome 5 occur frequently in the myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Recently IRF1, a putative tumor suppressor gene localized to the long arm of chromosome 5, has been shown to be deleted from the 5q- chromosome in a group of patients with MDS and AML. It has been suggested that the loss of IRF1 may be critical to the development of the 5q- syndrome. We have investigated the allelic loss of IRF1 in a group of 12 patients with MDS and a 5q deletion and 2 patients with AML and a 5q deletion. Gene dosage experiments demonstrated that 12 of 14 patients had loss of one allele of the IRF1 gene but no evidence of homozygous loss and that 2 patients with 5q- syndrome retained both copies of the gene. The retention of IRF1 on the 5q- chromosome in these two cases has been confirmed by fluorescent in situ hybridization localization using an IRF1 cosmid. Pulsed field gel electrophoresis was used to determine whether there was any evidence for structural rearrangement in the region encompassing the IRF1 gene in these two patients. No aberrant bands were detected with a range of rare cutter enzyme digests. We conclude that IRF1 maps outside the commonly deleted segment of the 5q- chromosome and that loss of IRF1 is not solely responsible for the development of the 5q- syndrome.

Adult↗
PubMed1992

Identification of a CA repeat at the TCRA locus using yeast artificial chromosomes: a general method for generating highly polymorphic markers at chosen loci.

The creation of a comprehensive genetic map in human has been limited by the lack of highly polymorphic markers spaced evenly throughout the human genome. We have utilized yeast artificial chromosomes (YAC) containing large human DNA inserts to help identify highly polymorphic (CA)n repeats at a chosen locus. The DNA of a YAC containing the locus was subcloned in M13 vectors, and the recombinants were screened at high stringency to detect preferentially long (CA)n repeats (n greater than 20). These repeats, which are the most likely to be highly polymorphic, were then studied to confirm both the level of polymorphism and their precise genetic location. This strategy has permitted the identification of a new, highly polymorphic CA repeat (77% heterozygosity) at the T cell receptor alpha chain (TCRA) locus on chromosome 14q. It provides a powerful marker for assessing the role of this locus in the susceptibility to autoimmune and infectious diseases. This approach should permit the development of highly polymorphic markers at any targeted locus and rapidly improve the current human genetic map.

Base Sequence↗
PubMed1989

Breast-milk IgA and lactoferrin survival in the gastrointestinal tract--a study in rural Gambian children.

The survival of breast-milk secretory-IgA and lactoferrin has been investigated in 23 Gambian children aged 1.5, 3 and 17 months. Endogenous excretion of these immune proteins was measured in 7 weaned 34-month-old children. Defaecation rate was the prime determinant of faecal secretory-IgA and lactoferrin outputs, indicating that partial degradation occurs in the large intestine. Calculations showed that at least 30% of IgA and 2% of lactoferrin ingested from breast-milk must survive in the small intestine. Variations in faecal immune protein outputs were related to differences in intake and defaecation rate and were not affected by age or solid food consumption. The raised faecal outputs of 5 children with diarrhoea were a consequence of their high stool frequencies. IgA disappearance in the large intestine proceeded twice as fast in Gambian breast-fed children as in comparable Cambridge infants, suggesting that differences in gut flora may influence IgA survival. Thus breast-feeding, irrespective of age or additional food, can deliver significant quantities of these antimicrobial proteins to the small intestine but differences in defaecation rate and gut flora may affect their protective potential in the large intestine.

Breast Feeding↗
PubMed1987

The nutritional role of breast-milk IgA and lactoferrin.

The nutritional enigma concerning the extent to which breast-milk immune proteins are digested has been investigated by measuring the intakes and faecal outputs of IgA and lactoferrin over 7 days in 10 exclusively breast-fed (BF) and 9 formula-fed (FF) fullterm infants at 6 and 12 weeks post-partum. BF outputs (mg/day) greatly exceeded FF values (p less than 0.001): at 6 weeks secretory-IgA BF = 160 +/- 28, FF = 14 +/- 2, lactoferrin BF = 14 +/- 2, FF = 0.9 +/- 0.1; at 12 weeks secretory-IgA BF = 94 +/- 17, FF = 25 +/- 5, lactoferrin BF = 7 +/- 1, FF = 1 +/- 0.3. Secretory-IgA represented 42% and 27% of BF faecal protein at 6 and 12 weeks compared with 6% for FF infants at both ages. BF secretory-IgA outputs were highly correlated with intakes (r = 0.83, p less than 0.001). IgA and lactoferrin outputs and the presence of faecal secretory-IgA fragments in BF and FF infants were influenced by defaecation rate, suggesting that partial degradation occurred in the large intestine. By 6 weeks post-partum only 1% lactoferrin and 17% secretory-IgA intakes appeared in the faeces and 95% breast-milk protein could be regarded as nutritionally available. The elevated BF outputs of IgA and lactoferrin relative to endogenous excretion suggest, however, that breast-milk may still make a considerable contribution to intestinal defence mechanisms after the neonatal period despite the small proportion of daily intake which escapes digestion. The protective action of IgA and lactoferrin may also depend on their site of degradation and the nature of fragments.

Feces↗