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Biomedical subjects

K Neale

Publications and source records attributed to K Neale.

30 records · Page 2Linked to original sources
PubMed1996

A modifying locus for familial adenomatous polyposis may be present on chromosome 1p35-p36.

Mutations of the APC gene cause familial adenomatous polyposis (FAP) in humans and multiple intestinal neoplasia (Min) in laboratory mouse strains. A dominant modifying gene (Mom1), which partially suppresses the min phenotype, has been mapped to mouse chromosome 4. This region is syntenic with human chromosome 1p35-p36. The phospholipase A2 (Pla2s) locus is an excellent candidate for Mom1 and the equivalent human locus PLA2G2A is found on chromosome 1p35. It does not necessarily follow, however, than any modifier of mouse polyposis also influences human disease. In order to test whether a locus on 1p modifies FAP, subjects from 28 FAP families have been typed at microsatellite loci on this chromosome arm. The severity of their duodenal polyposis has also been assessed by endoscopy. Pedigree (lod score) linkage analysis found no evidence of a simple, dominant modifying gene, comparable with the action of Mom1 in inbred mouse strains. Given the more complex genetic and environmental interactions likely to exist in outbred human populations, it is probably more appropriate to use tests which do not specify a mode of inheritance. Using these methods of analysis, the data suggest that a locus on chromosome 1p35-p36 may influence the severity of duodenal FAP.

Adenomatous Polyposis Coli↗
PubMed1994

Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.

Germline mutation in APC at 5q21-22 results in the dominantly inherited syndrome adenomatous polyposis coli (APC). Somatic mutation in this gene is an early event in colorectal tumourigenesis. Both types of mutation are concentrated in the 5' half of exon 15. We have used single strand conformational polymorphism (SSCP) and heteroduplex analysis to screen for variants in this region of the gene in a total of 45 affected but unrelated individuals. Eighteen patients had no family history of the disease; of these 11 were classified as having a severe phenotype, based on an early age at presentation or cancer development. This compared with 6 of 27 familial cases. A 5 bp deletion at codon 1309 reported to occur in 10-15% of unselected APC patients worldwide, was found in 5 of the 18 new mutation cases and 4 of the 27 familial cases: all nine were classed as severe. A further 3 new mutations and 1 familial mutation were located downstream from codon 1309, these individuals similarly being classed as phenotypically severe. In contrast all of the APC mutations detected in affected individuals with an average phenotype were located prior to codon 1309. The frequent association of a severe phenotype with fresh mutation may explain the apparent conflict of a high mutation rate (20-30%) in a condition, which on average, is lethal at a post-reproductive age.

Adenomatous Polyposis Coli↗
PubMed1993

The establishment of a polyposis register.

Guidelines are presented for the establishment of a regional or national register of patients with familial adenomatous polyposis. The detailed recommendations are based on the work in committees of the "Leeds Castle Polyposis Group" and the "EuroFAP". The aims of national and regional polyposis registers are discussed, and the stages of development of a register are reviewed: Ascertainment of probands, construction of pedigrees, identification of family members at risk, and screening of members at risk. The problem of data confidentiality is discussed.

Adenomatous Polyposis Coli↗
PubMed1992

Rectal cancer risk in patients treated for familial adenomatous polyposis. The Leeds Castle Polyposis Group.

Total colectomy with ileorectal anastomosis (IRA) in familial adenomatous polyposis (FAP) leaves patients at risk for rectal cancer. To assess this risk, the rectal cancer incidence in 297 patients with FAP undergoing IRA since 1951 was determined in the population-based registers of Denmark, Finland and Sweden. At the same time, detailed data on 50 patients with FAP and invasive rectal cancer were obtained from 11 international polyposis registries. The cumulative incidence of rectal cancer was 13.1 per cent at 25 years. The 5-year survival rate of patients with FAP developing rectal cancer was 71 per cent. Combining both studies, the risk of dying from rectal cancer after IRA was 2.0 per cent at 15 years of follow-up. These results justify IRA as primary treatment for most patients; restorative proctocolectomy is preferred for some subgroups. The high all-cause mortality rate observed in this relatively young population necessitates lifelong surveillance of patients with FAP.

Adenomatous Polyposis Coli↗
PubMed1991

A review of physical abnormalities in familial adenomatous polyposis.

Familial adenomatous polyposis (FAP) is an autosomal dominant condition wherein multiple polyps may be found in the gastrointestinal tract. Initially referred to as familial polyposis coli, it has become evident that virtually all patients with FAP develop adenomas in the upper gastrointestinal tract and thus the syndrome is now termed familial adenomatous polyposis. The number of associated conditions both malignant and benign has been increasingly recognized. Some of these lesions cause morbidity and mortality in affected individuals whilst others act as important clinical markers for identifying patients not yet expressing the phenotype. These abnormalities can arise from tissues of all three primary embryonic layers and are described in this paper.

Abnormalities, Multiple↗
PubMed1990

Pigmented lesions of the retinal pigment epithelium and familial adenomatous polyposis.

Bilateral pigmented fundus lesions were found in 65 out of 72 patients with familial adenomatous polyposis, an additional five patients having unilateral lesions. With a family history of familial adenomatous polyposis, the occurrence of multiple bilateral fundus lesions indicates the presence of the abnormal gene, as does the occurrence of oval pigmented lesions with surrounding pale haloes. The absence of pigmented fundus lesions does not exclude the abnormal genotype, while the presence of occasional pigmented spots can be found in an appreciable percentage of the population. Ocular examination would, however, appear to be valuable in screening those at risk, with a positive yield in most carriers of the gene for familial adenomatous polyposis.

Adenomatous Polyposis Coli↗
PubMed1988

Living with a stoma.

Explore the source record for details and available documents.

Activities of Daily Living↗
PubMed1987

Faecal bile acids, dysplasia, and carcinoma in ulcerative colitis.

A prospective study was undertaken between 1974 and 1985 of 102 patients with extensive ulcerative colitis (UC) of more than 10 years' duration. Faeces were collected for measurement of faecal bile acid concentrations (FBA), and the clinical outcome was recorded. The average faecal bile acid value among the 14 patients who showed carcinoma or definite dysplasia in the excised large bowel (9.86 [SE 0.81] mg/g FBA) was higher than in the 88 patients without dysplasia or carcinoma (7.51 [0.24] mg/g). These results lend support to the theory that bile acids are causally related to colorectal cancer.

Bile Acids and Salts↗
PubMed1982

Health diaries: strategies for compliance and relation to other measures.

This article described experience with the use of health diaries in a two-year prospective study of the influence of the psychosocial environment on the health status of 500 subjects in the Hamilton area. Three strategies were used to maintain compliance: 1) random sampling of three days within each two-week interval; 2) a lottery ticket incentive; and 3) telephone follow-up. The results of an initial telephone and lottery ticket study demonstrated a significant effect on compliance. The data from the two-year study were analyzed to characterize health change based on diary reports over successive six-month intervals and to determine the relationship of reported health to medical utilization data. The results indicated that subjects reported symptoms on about one third of the days surveyed but took no action on about one third of these symptom days. Only one quarter of the symptom days resulted in a change in usual activity, and fewer than one tenth of the symptom days resulted in time off from work or physician visits. The diary variable showed a low, positive correlation with health utilization.

Adult↗
PubMedDate not supplied

Osteomesopycnosis.

Osteomesopycnosis is a rare osteosclerotic bone disorder limited to the axial skeleton. The disease has diagnostic radiographic findings. Fewer than 20 cases have been published in the literature. We present the first Australian case of this disease.

Australia↗