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Biomedical subjects

C F McCarthy

Publications and source records attributed to C F McCarthy.

At least 19 recordsLinked to original sources
PubMed1992

HLA class II frequencies in celiac disease patients in the west of Ireland.

Restriction fragment length polymorphism analysis, using a single restriction enzyme TaqI-multiple-probe system for HLA-DRB1-DQB1 and -DQA1, was used to determine HLA-DR and -DQ frequencies in 56 unrelated celiac patients and 47 unrelated controls from the west of Ireland. In addition, HLA-DPB1 allelic frequencies were determined in the same group of patients and controls by using the technique of enzymatic DNA amplification of the polymorphic second exon of HLA-DPB1 genes in conjunction with sequence-specific oligonucleotide probing. The results suggest that HLA-DQ rather than HLA-DR is more important in conferring susceptibility to celiac disease. Furthermore, no association between HLA-DP and celiac disease was found in this study.

Adolescent↗
PubMed1991

Evidence for a dominant gene mechanism underlying coeliac disease in the west of Ireland.

Although coeliac disease (CD) is strongly associated with the HLA alleles B8 and DR3, the genetic basis of this illness remains obscure. Recent studies show that at least two unlinked loci are involved. Most studies agree on recessivity at the HLA-unlinked locus but differ with respect to dominance or recessivity at the HLA-linked disease susceptibility locus. To address this controversy, we examined the association of CD with HLA in 39 families from the West of Ireland. Previous studies have shown that the prevalence of CD and the frequencies of the HLA antigens associated with it are higher in this population than in most others. Analysis of the data revealed a significant excess of concordant sib-pairs with two HLA haplotypes in common and an excess of discordant pairs with no haplotype in common. Chi-square tests confirmed a highly significant association between HLA-B8 and CD. Both heterozygotes and homozygotes for B8 had a significantly increased risk of CD. The risk for homozygotes was slightly higher than for heterozygotes, although not significantly so. The segregation ratio for disease occurrence among sibs of probands was estimated to be 0.185 when neither parent is affected. We estimated a gene frequency of 0.003 for the disease allele (C) at the HLA-linked locus and of 0.648 for the disease allele (d) at the HLA-unlinked locus. Assuming that CCdd homozygotes are always affected and that only carriers of C who are homozygous dd can be affected, the disease was found to be completely penetrant in Ccdd heterozygotes. These results support dominance at the HLA-linked locus conferring susceptibility to CD. Possible reasons for the discrepancy between the West of Ireland and other populations are discussed.

Alleles↗
PubMed1991

Gm typing of Irish coeliac patients and controls does not help locate the "second" coeliac gene.

A two gene model has been proposed to explain the inheritance of coeliac disease (CD). One gene is on chromosome 6 in the MHC complex (HLA associated). It has been suggested the second gene is located on chromosome 14, in or near the region encoding for immunoglobulin heavy chain allotypes (Gm types). In a study of 102 unrelated Irish coeliacs and a group of ethnic controls, we have failed to show an association of CD with any particular Gm type or types. There is no evidence to confirm that a gene on chromosome 14 is implicated in the inheritance of CD.

Adolescent↗
PubMed1990

Lung cavities in patients with coeliac disease.

The clinical, radiological and pathological features of 7 patients with coeliac disease (CD) who developed lung abscesses or cavities are described. These patients were seen during a 20-year period during which time approximately 600 coeliacs were seen and 50 died. Six of the coeliac patients with lung abscess died. The patients were middle aged. Staphylococcal infection, Klebsiella pneumoniae, bronchial carcinoma and previous pulmonary tuberculosis accounted for the cavities in 4 patients. In the 3 other patients a definite cause could not be identified. Hyposplenism and malnutrition were common. Next to malignancy pulmonary abscess was the commonest cause of death in the coeliac population. The development of respiratory symptoms should be regarded as a potentially serious and a life-threatening event in the middle-aged coeliac patients. Lung abscess should be added to the list of respiratory diseases associated with coeliac disease.

Adult↗
PubMed1978

Gastric neoplasm in the West of Ireland: an endoscopic survey.

The results of endoscopic examination, biopsy taken at endoscopy and cytology of brush smears and/or gastric lavage specimens in 100 patients with proven malignant gastric lesions are described. Overall, a correct pre-operative diagnosis was achieved in 98 cases. Endoscopic appearance was a more accurate criterion in cases of exophytic advanced carcinoma, malignant ulcer and lymphoma than in diffuse infiltrative carcinoma or in early carcinoma, where biopsy and cytology were more accurate. Nine per cent of neoplasms were malignant lymphomas, which is much higher than the usual reported incidence. Early carcinoma was found in 5% of cases. In spite of readily available facilities for endoscopic diagnosis, most cases of gastric neoplasm were already advanced at the time of examination.

Adolescent↗
PubMed1978

Mucosal enzyme patterns in gastric epithelial disease.

A correlation was sought between changes in enzymes involved in gastric acid secretion (Mg-, NaK-, K- and HCO3-stimulated ATPases) and histological changes in gastric biopsies. Alkaline phosphatase was also studied. Mg- and NaK-stimulated ATPase activities increased significantly in biopsies from the pylorus and antrum which showed moderate or severe gastritis. NaK ATPase levels increased and HCO3 ATPase decreased in incisural, body and fundic mucosa which had intestinal metaplasia and atrophic gastritis. No K+ ATPase was found in normal mucosa. The total activity of alkaline phosphatase did not vary with histological changes in the gastric mucosa. Results indicate that the ATPase enzyme systems are sensitive indicators of gastric mucosal disease.

Adenosine Triphosphatases↗
PubMed1977

Coeliac disease: the abolition of gliadin toxicity by enzymes from Aspergillus niger.

1. Gliadin from which carbohydrate was removed by treatment with carbohydrase from Aspergillus niger was fed to three coeliac patients in remission. 2. Xylose absorption, mucosal morphology and brush-border enzymes were used to assess the toxicity of the carbohydrase-treated gliadin. 3. Gliadin treated with carbohydrases did not damage the intestinal mucosa of the coeliac patients. 4. The primary structure of the gliadin proteins was not altered by the enzyme treatment.

Adolescent↗
PubMed1977

Death following fiberoptic gastroscopy caused by pheochromocytoma.

A 45-year-old woman was admitted to hospital for investigation of weight loss, sciatica and excess sweating. On examination, whe was found to have a tachycardia and the stigmata of von Recklinghausen's disease. Her investigations included a barium meal and gastroscopy. Following the gastroscopy, she developed ventricular tachycardia and died. An autopsy revealed a pheochromocytoma of the left adrenal gland.

Adrenal Gland Neoplasms↗
PubMed1977

The 15 g D-xylose absorption test: its application to the study of coeliac disease.

The absorption of xylose following an oral load of 15 g D-xylose has been studied by serial blood levels in 17 untreated adult coeliac patients, 21 treated coeliac patients, and 30 non-coeliac patients. A statistically significant difference in xylose blood levels was found between untreated coeliac and non-coeliac patients at all the times studied, but a complete separation between these two groups occurred only at the 75 minute stage. The reproducibility of absorption was assessed by repeating the test in 16 subjects. The 95% confidence limits of the standard error of estimate are narrowest at 75 and 90 minutes.

Adult↗