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Biomedical subjects

P Møller

Publications and source records attributed to P Møller.

At least 127 records · Page 7Linked to original sources
PubMed1990

Breast cancer and other cancers in Norwegian families with ataxia-telangiectasia.

Patients who are homozygous for ataxia-telangiectasia (AT) have an exceptionally high incidence of cancer. Heterozygous individuals for the disease have been reported to be at an increased risk of cancer, particularly breast cancer in female carriers. We have analyzed eight Norwegian families with AT for cancer incidence in the parents, in the parents' sibs, grandparents, and grandparents' sibs. Two of the obligate heterozygote females have had premenopausal breast cancer. This incidence is significantly higher than expected for that group. No increase in the cancer incidence was observed in the parents' sibs, the grandparents, or the grandparents' sibs. Since the incidence of AT is low, data from many sources have to be combined to allow any conclusion.

Ataxia Telangiectasia↗
PubMed1990

Otitis media with effusion: can erythromycin reduce the need for ventilating tubes?

Otitis media with effusion (OME) is a common condition among children and is characterized by nonpurulent fluid in the middle ear and fluctuating conductive hearing loss. Most children will spontaneously regain normal air-filled middle ears, but a certain number will have persistent problems. In our department we will treat annually about 500 children on an outpatient basis, with the insertion of ventilating tubes in the eardrum. The reason for this study was to evaluate the effect of erythromycin, instead of inserting a ventilation tube, in children with bilateral OME of longer duration than three months (double blind/placebo). The study comprises 147 children, 1-15 years of age, 83 boys and 64 girls, all with OME for more than three months. All the patients were candidates for tube insertion. In the group treated with erythromycin, 12 patients out of 69 had bilaterally air-filled middle ears after one month, as compared to 19 out of 72 in the group treated with the placebo. No difference was noted due to sex or age. The results support our indication and timing for ventilation tube insertion.

Adolescent↗
PubMed1990

Spinal muscular atrophy type I combined with atrial septal defect in three sibs.

All three children of an unrelated Norwegian couple were born with spinal muscular atrophy (SMA I) as confirmed by autopsy in two of them. Two of the children died at birth, whereas one lived for 7 weeks on support systems that included artificial ventilation. All three children had large atrial septal defects (ASD). One had valvular aortic stenosis. Another had arrhinencephaly and transient pleural effusion which was evacuated during pregnancy. The findings may reflect concurrence of unrelated disorders caused by genetic or environmental factors, segregation of linked genes, pleiotropism or the existence of a previously unknown disease.

Abnormalities, Multiple↗
PubMed1990

HLA-B27 is necessary but not sufficient.

It is discussed why some, but not all HLA-B27-positive persons get disease when triggered by certain infections. The conclusions are that a possible modifying gene may be found on the other HLA haplotype or outside the HLA complex. Given an epidemic infection afflicting a family, it is the possible differences of other environmental factors which may be of interest, not a further description of the infection initially recognized. The familial clustering of disease is based upon modifying genetic factor(s) and/or environmental factor(s) shared by the family members. Timing of the environmental factors may be instrumental. Penetrance of genetic predisposition may also depend on coincidence of randomly occurring environmental factors.

Cluster Analysis↗
PubMed1989

[Gene technology in the prevention of cancer].

Cancer may develop in connection with rare, genetic diseases or after exceptional, environmental exposures. Most commonly, however, cancer results from an unhappy coincidence of normal, genetic factors and ordinary, environmental conditions. Oncogenes are normal growth genes. Anti-oncogenes are normal regulatory genes which control growth genes. Cancer may result from changes (mutations) in an oncogene (such as in the Philadelphia chromosome), or from the lack of control of normal oncogenes. The latter may be due to loss of function of a suppressor gene (mutation in an anti-oncogene, such as in retinoblastoma) or through a change in the position of an oncogene (such as in Burkitt's lymphoma and in certain leukemias).

Biomarkers, Tumor↗
PubMed1989

[Physiology and physiopathology of defecation].

The normal physiology of defaecation is reviewed with the object of understanding pathological defaecation. The significance of investigation of anorectal physiology in cases of disturbance of defaecation is emphasized in view of further understanding of the basic mechanisms and offers of rational therapy.

Anal Canal↗
PubMed1989

[Caustic injuries of the esophagus].

Several different agents can cause lesions of the esophagus if they are ingested. An esophagoscopy is necessary for proper evaluation of the damage. Our experience over the last 12 years substantiates that lye and strong alkalis are the most dangerous substances to swallow. The decision to do an esophagoscopy should be based on certain criteria listed in the paper.

Adult↗
PubMed1989

Analgesic effect and tolerance of Voltaren and Ketogan in acute renal or ureteric colic.

Fifty-six patients with renal or ureteric colic were entered into a randomised, prospective, double-blind investigation of the analgesic efficacy and tolerance of Voltaren versus Ketogan, both administered intramuscularly. There were no significant differences regarding pain-relief but side effects were fewer in patients treated with Voltaren.

Acute Disease↗
PubMed1988

Prenatal diagnosis in a female carrying a deletion close to the Duchenne locus.

Family studies including the proband are usually needed before a prenatal diagnosis may be performed for Duchenne muscular dystrophy. We report here on prenatal diagnosis in a family where the solitary index case was dead, and where the consultand and her mother were assumed to be carriers by independent evidence. DNA analysis revealed that both the consultand and her mother had an X chromosome deleted for DNA material in the Xp21 region. The female fetus also carried the deleted X chromosome.

Chromosome Deletion↗
PubMed1988

Linkage disequilibrium analyses and restriction mapping of four RFLPs at the pro alpha 2(I) collagen locus: lack of correlation between linkage disequilibrium and physical distance.

Restriction fragment length polymorphisms (RRLPs) located at short distances may demonstrate linkage disequilibrium. Under the assumption that the distances between the loci of the RFLPs are inversely related to the linkage disequilibria, gene order may be deduced. However, if the assumption is invalid, the results may be incorrect. We have studied four different DNA polymorphisms at the COLIA2 locus in 180 unrelated Norwegian individuals. Observed frequencies (presence/absence) for the different polymorphic sites were as follows: site A (EcoRI) 0.30/0.70, site B (MspI) 0.83/0.16, site C (StuI) 0.86/0.14, and site D (RsaI) 0.66/0.34. Of 16 possible haplotypes 12 were demonstrated, and 2 additional were deduced to be present. Restriction mapping of the four polymorphic sites gave the following order of the sites from the 5' to the 3' of the gene: A-D-B-C. Linkage disequilibrium was not found between the sites A and D; strong disequilibrium was found between sites A and C, and B and C; and less strong, between A and B, B and D, and C and D. Analysis of linkage disequilibrium coefficients between all pairs of loci demonstrated that there is no consistent relationship between linkage disequilibrium and physical distance (tau = -0.07). These results suggest that for a small region of the genome, factors such as deviating mutation rate and gene conversion may add significantly to rearrangements by recombination. Thus, a deduced gene order from linkage disequilibrium data has to be regarded with great caution.

Chromosome Mapping↗
PubMed1988

IgA and rheumatoid factor in ankylosing spondylitis.

The elevated serum IgA in seronegative arthritis and psoriasis is not well understood. We examined 112 patients with ankylosing spondylitis for IgA RF, IgG RF and IgM RF by an ELISA method. Two, two and ten patients were RF positive in each Ig class, respectively. Presence of RF was not correlated with Ig concentrations, with presence of HLA-B27, nor with clinical disease signs. It was concluded that RF may be seen in ankylosing spondylitis, but the increased IgA concentrations in such patients are not IgA RF.

Enzyme-Linked Immunosorbent Assay↗
PubMed1987

[Tracheotomy].

Explore the source record for details and available documents.

Adolescent↗
PubMed1987

Central mucoepidermoid tumour of the mandible. Report of 2 cases.

Central mucoepidermoid tumour is an uncommon tumour within the jawbones. The onset is insidious and the first symptom is usually swelling. The radiographic appearance resembles a multiocular cyst or ameloblastoma. Two new cases are presented, and their diagnosis, histopathology and treatment are discussed. The prognosis is fairly good after adequate surgical treatment.

Adult↗
PubMed1987

Technical and biological aspects of pseudomosaicism and mosaicism.

In 471 amniotic fluid cell cultures, single abnormal cells were found to be randomly distributed. The expected number of pseudomosaicisms for aneuploidy due to randomly distributed cells was 3.9, and the observed number was 4. Expected number of mosaicism for aneuploidy was 0.6, and none was observed. The findings indicated that pseudomosaicisms as well as mosaicisms may be diagnosed from randomly distributed single abnormal cells. The probability of erroneously confirming mosaicism increased with the number of cells analysed in the second culture.

Aneuploidy↗
PubMed1987

Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X-chromosome.

Amniocentesis was performed in a woman who previously had given birth to a boy who died at 12 months of age with a diagnosis of glyceroluria and adrenal insufficiency. A high amount of glycerol (9.0 standard deviations above mean for controls) was found in the amniotic fluid. Enzyme activity of glycerol-kinase (ATP:glycerol-3-phosphotransferase, EC 2.7.1.30) in the cultured amniotic fluid cells was very low. The pregnancy was terminated and a male fetus was aborted. Examinations of DNA isolated from the fetus did demonstrate deletions of two out of 16 DNA probes mapping to the short arm of the X-chromosome. The probes failing to hybridize to DNA from the fetus were C7 (DXS28) and L1.4 (DXS68), both mapping to Xp21.3 and located terminal to the Duchenne locus.

Abortion, Induced↗