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J C Pedersen

Publications and source records attributed to J C Pedersen.

At least 37 records · Page 2Linked to original sources
PubMed1993

Campomelic dysplasia--an underdiagnosed condition?

Campomelic dysplasia (CD) is a rare skeletal dysplasia. The incidence, reported in the literature, is 0.05-0.09 per 10,000 live births. During the period December 1985-December 1990 there were 18,350 live births with 4 cases of CD at Aker University Hospital in Oslo, Norway. This gives an incidence of CD in our observation period of 2.2 per 10,000. Eliminating our first case, because of Pakistani decent, the total incidence is 1.6 per 10,000 among Norwegian infants which is much higher than the incidence previously mentioned. Perhaps CD is under-reported and a high proportion of patients remain undiagnosed. We present four cases and discuss the incidence.

Dwarfism↗
PubMed1993

Frequency of the delta F508 and exon 11 mutations in Norwegian cystic fibrosis patients.

We have searched for the delta F508 mutation in 77 Norwegian cystic fibrosis patients. Of the 154 chromosomes tested, 93 (60%) carried the delta F508 mutation. Haplotypes at the D7S23 locus (KM19 and XV2C markers) were determined. Of 81 chromosomes with the F508 mutation, the B haplotype was found on 77. We found three patients with the G551D and one patient with the R553X mutation in exon 11 of the CFTR locus.

Cystic Fibrosis↗
PubMed1993

Fate of Enterobacter cloacae JP120 and Alcaligenes eutrophus AEO106(pRO101) in soil during water stress: effects on culturability and viability.

A sandy loam soil near field capacity moisture content (psi = -0.050 MPa) or air dried (psi = -300 MPa) was inoculated with about 3 x 10(7) CFU of Enterobacter cloacae JP120 and Alcaligenes eutrophus AEO106(pRO101) per g and incubated in 40-g portions at 17 degrees C in closed or open Erlenmeyer flasks. In the field-moist soil, selective plating, direct viable counts, and DNA hybridization showed only minor changes in the numbers of E. cloacae and A. eutrophus cells with time (14 days), and the results obtained with the three detection methods generally agreed. In the air-dried soil, the majority of both bacteria were found as intact DNA-carrying cells that were neither culturable nor viable by the methods employed in this study. The numbers of culturable E. cloacae and A. eutrophus cells dropped to 10(5) and 10(2) CFU/g, respectively, 2 h after inoculation. Direct viable counts showed that only about 1% of the cells detected by immunofluorescence microscopy were viable, but a fraction of viable nonculturable cells of both bacteria was present. A. eutrophus did not tolerate desiccation as well as E. cloacae. Only a minor fraction of the two test organisms regained their culturability or viability after rewetting of the air-dried soil; the number of total heterotrophic culturable bacteria, however, increased more than 10-fold and reached 73% of the level found in the field-moist soil at day 14.

Alcaligenes↗
PubMed1992

Molecular analysis of pseudorabies viral vaccines and their rapid differentiation from wild-type isolates using DNA-amplified glycoprotein I and thymidine kinase gene segment polymorphisms.

Several conventional and genetically recombinant modified-live viral (MLV) vaccines are used to control pseudorabies virus infections (Aujeszky's disease, PRV) in swine. Differentiating vaccinal PRV (V-PRV) from wild PRV (WT-PRV) is important for herd health, regulatory and forensic purposes, and for studies of PRV latency and epidemiology. All PRV vaccines used currently contain glycoprotein I (gI) and/or thymidine kinase (TK) gene deletions, whereas WT-PRV typically contain intact gI and TK genes. Utilizing these differences we developed an effective but simple differential polymerase chain reaction (PCR) approach based upon the amplification of gI and TK gene polymorphisms. The primary immunoreactive epitope-encoding region of the gI gene and nearly the entire TK gene were amplified and analyzed using nested PCR procedures. TK and gI PCR products were cleaved with Sal I and Sac I, and Nco I restriction enzymes respectively. PCR product and restriction fragment length polymorphisms enabled most V-PRV to be clearly distinguished from each other, and all of them, as a group, clearly differentiated from typical WT-PRV. Mixtures of V-PRV and WT-PRV could be identified as such. The uncommon but occasional occurrence of atypical WT-PRV containing altered gI and/or TK genes indicates the need for interpretive caution, particularly if aberrant gene segment polymorphisms are observed. This rapid and precise molecular approach will facilitate regulatory monitoring, epidemiological investigations, diagnostic differentiation, purity testing and latency/recrudescence studies with the class of biologicals and offers a model for similar analyses of other MLV biologicals as well.

Animals↗
PubMed1992

Natamycin as a fungicide in agar media.

Fungal inhibition in four commonly used agar media was improved by substituting natamycin (pimaricin) for cycloheximide. The recovery of bacteria was not affected by natamycin, whereas fungal contamination from a variety of samples was significantly suppressed. Furthermore, natamycin lacks the occupational health hazards of cycloheximide. Medium-dependent natamycin degradation occurred during the preparation and refrigerated storage of agar plates, but the addition of natamycin at 21.6 mug/ml resulted in effective residual activity.

Journal Article↗
PubMed1990

Gene-gene interaction between the low density lipoprotein receptor and apolipoprotein E loci affects lipid levels.

A restriction fragment length polymorphism (RFLP) at the low density lipoprotein receptor (LDLR) locus, detectable with the restriction enzyme PvuII has been studied in a second series of Norwegian subjects, believed to be representative of the general population. The results confirm the association of normal alleles at the LDLR locus with differences in age- and sex-corrected total and LDL cholesterol. A gene identified as one of the alleles in this RFLP appears to eliminate the effect of the apolipoprotein E4 (apoE4) gene on cholesterol (or its allele must be present for the apoE4 effect on lipid level to manifest itself). The findings in this series substantiate previous indications that normal alleles are of importance in the control of LDLR activity and that normal LDLR alleles contribute to the population variation in cholesterol. Finally, they confirm that an interaction between LDLR and apoE genes contributes to the population variation in total and LDL cholesterol.

Adult↗
PubMed1989

Interaction between low density lipoprotein receptor (LDLR) and apolipoprotein E (apoE) alleles contributes to normal variation in lipid level.

Subjects drawn from a population-based register were studied with respect to lipid level association. The association of isoforms of apolipoprotein E (apoE) with lipid level in the general population was found to be limited to people with one particular genotype at the low density lipoprotein receptor (LDLR) locus. The results presented in this paper suggest that functional LDLR variants enhance or limit the effect of isoforms of apoE. The association between apoE4 and serum total and LDL cholesterol level may be mediated through the LDL (apoB100, apoE) receptor to a greater extent than previously thought.

Age Factors↗
PubMed1988

Comparison of gamma-glutamyl hydrolase (conjugase; EC 3.4.22.12) and amylase treatment procedures in the microbiological assay for food folates.

1. It has been suggested that deconjugation of food folates with pig kidney, compared with chicken pancreas, may increase measureable folate by approximately 50% (Phillips & Wright, 1983). Therefore deconjugation with conjugases from these two enzyme sources was optimized and compared. Folate was measured microbiologically with Lactobacillus casei (ATCC 7469) as the test organism at pH 5.6. 2. Treatment for 6 h with 200 mg pig kidney/200 mg sample was compared with the conventional assay employing overnight incubation with 20 mg chicken pancreas/5 g sample. Comparison of the deconjugation systems showed chicken pancreas to be superior for peas (Pisum sativum) and beans (Phaseolus vulgaris), while there was no difference for potatoes. 3. gamma-Glutamyl hydrolase (conjugase; EC 3.4.22.12) treatment for 2 and 20 h with pig kidney and chicken pancreas was optimized for raw potatoes and green frozen peas. Treatments with pig kidney were conducted at pH 4.6, which is optimal, and at pH 5.2. There was no significant difference between 2 and 20 h treatments at pH 5.2. Treatments with chicken pancreas were conducted at pH 6.1. Treatment for 2 h was preferred as it resulted in significantly higher measureable folate activity in peas and potatoes, and because overnight treatment can be influenced by microbial production of folate. 4. With optimal treatment conditions the source of enzymes did not significantly influence measureable folate activity. Chicken pancreas is the traditional source of conjugase in Scandinavia and was preferred for deconjugation. 5. Chicken pancreas, 20 and 60 mg, was used for deconjugation of sixteen different food samples, each containing approximately 200 ng folate. Chicken pancreas at 60 mg/sample gave significantly higher results. Further addition of enzyme did not increase the folate values. 6. A combined amylase treatment using heat-resistant alpha-amylase (EC 3.2.1.1) during extraction to ensure the gelatinization of the sample, and glucan 1,4-alpha-glucosidase (amyloglucosidase; EC 3.2.1.3), along with the incubation with chicken pancreas to complete the digestion, was shown to give a small but significant increase in folate values of starch-containing samples. 7. Folate results using the recommended procedure are given for raw potatoes, wheat bran, rolled oats, wheat flour and dark rye bread. 8. Chicken pancreas was shown to contain equally high amounts of amylases as did the alpha-amylase and amyloglucosidase sources. This finding may explain the relatively small benefit of a specific amylase addition.

Animals↗
PubMed1988

Normal DNA polymorphism at the low density lipoprotein receptor (LDLR) locus associated with serum cholesterol level.

A restriction fragment length polymorphism (RFLP) at the low density lipoprotein receptor (LDLR) locus detectable with the restriction enzyme PvuII exhibits association with total serum cholesterol level. People who are homozygous for absence of the PvuII restriction site have a significantly higher total cholesterol level than heterozygotes (the number of homozygotes for presence of the restriction site was too small to permit meaningful comparison). This difference is significant at the 2% level. Thus, this study of sex- and age-adjusted cholesterol levels in a sample of healthy people yields additional evidence and sustains our previous proposal that normal alleles at the LDLR locus contribute to the population variation in total cholesterol levels. Absence of the PvuII site appears to confer an odds ratio of approximately 2.7 for having a cholesterol level in the top quartile of the population distribution.

Adult↗
PubMed1982

The distribution and origin of mutagens in airborne particulates, detected by the salmonella/microsome assay in relation to levels of lead, vanadium and PAH.

At three stations in central Copenhagen, Denmark, samples of particulate matter were collected simultaneously with different contributions from automobile exhaust products. Samples were obtained at street level, 22 m above street level and within a hospital zone; 32 samples were analysed for levels of polycyclic aromatic hydrocarbons (PAH) and elements, as well as for mutagenicity towards S. typhimurium TA1538. Two classes of mutagens were quantified: a non-polar extract rich in PAH and, other promutagens, and a polar extract containing direct acting mutagens (not requiring microsomal activation). Covariances between lead and mutagenicity, and the varying distribution of the polar and non-polar mutagens at the stations, indicate that at all stations the mutagenicity of the non-polar extract is dominated by automobile exhaust products. The polar extract is relatively less influenced by primary traffic emissions; a considerable part of the activity of this extract is attributed to secondary emissions, transformed by atmospheric reactions, and primary emissions from stationary sources.

Air Pollutants↗
PubMed1981

Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency.

Instability of the centromeric regions of chromosomes 1, 9, and 16 in cultured lymphocytes of an 8-month-old girl with malabsorption and combined immunodeficiency is reported. Together with the two previous reports on this condition, the present report seems to confirm the specific association of combined immunodeficiency and centromeric instability of chromosomes 1, 9, and 16 with multibranching.

Cells, Cultured↗
PubMed1980

Deletion of the short arm of chromosome 9. A clinically recognisable entity.

A partial deletion of the short arm of chromosome 9 is reported in a female newborn and a 12.5 year-old male. The features expressed by both patients, and especially the peculiar type of the craniofacial dysmorphism, confirm the existence of a typical clinical syndrome associated with this partial autosomal monosomy.

Abnormalities, Multiple↗
PubMed1980

Multiple synostosis syndrome.

A 2-year-old deeply mentally handicapped girl is reported with a multiple synostosis syndrome, as delineated by Maroteaux et al. (1972). Besides the multiple synostoses the peculiar facial dysmorphism and the hearing deficit allow, the clinical diagnosis of this apparently rare syndrome.

Child, Preschool↗