Biomedical subjects

R Dalton

Publications and source records attributed to R Dalton.

At least 19 recordsLinked to original sources

PubMed2005

Mechanised one-day fat clearance method to increase the lymph node yield in rectal cancer specimens.

The Royal College of Pathologists' guidelines for reporting colorectal cancer state that all lymph nodes in a colorectal cancer specimen should be sampled, regardless of site or size. The only means by which one can be certain that all nodes have been sampled is to clear the fat and visualise the lymph nodes. Methods of fat clearance have been available for many years, but few are acceptable in routine practice. Here, a simple, effective and economical solution to the problem is described, which should be amenable to any laboratory with a spare or back-up tissue-processing machine.

Adipose Tissue↗

PubMed2004

Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.

Syndromic Hirschsprung disease has been associated with mutations in ZFHX1B, a Smad-interacting transcriptional repressor protein. Tissue in situ hybridization has demonstrated strong expression of ZFHX1B in the developing eye, suggesting that some mutations in this gene may cause visual loss. However, none of the reported mutations have been associated with an ocular phenotype. We describe a patient with Down syndrome and Hirschsprung disease with high myopia and ocular coloboma affecting the iris and retina. In addition to trisomy 21, a novel, de novo heterozygous A to G transition in exon 8 of the ZFHX1B gene was identified, which results in a R953G amino acid substitution. This abnormality was not seen in a screen of 200 chromosomes from ethnically matched, normal controls. The arginine residue at position 953 is an extremely conserved amino acid throughout evolution. This is the first report associating Hirschsprung disease and severe eye defects with a specific genetic mutation and is the first report of a mutation in ZFHX1B causing a developmental ocular anomaly.

Abnormalities, Multiple↗

PubMed2001