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Biomedical subjects

K Fenger

Publications and source records attributed to K Fenger.

At least 19 recordsLinked to original sources
PubMed1992

Transferrin subtypes in 51 Danish patients with hereditary haemochromatosis and in 847 normal subjects.

Transferrin (TF) subtypes were determined by isoelectric focusing in 51 unrelated Danish patients with hereditary haemochromatosis (HH) and in 847 normal subjects. The following TF phenotype frequencies were observed in HH patients and controls, respectively: TF*C1, 70.6% vs. 58.8%; TF*C2, 5.9% vs. 2.4%; TF*C3, 0% vs. 0.4%; TF*C1-2, 11.8% vs. 24.7%; TF*C1-3, 5.9% vs. 9.7%; TF*C2-3, 3.9% vs. 2.2%; TF*B-C1, 2.0% vs. 1.5%; TF*B-C2, 0% vs. 0.4%. None of these differences were statistically significant. There was no relationship between the TF subtypes and the clinical or paraclinical expression of disease in HH patients.

Denmark↗
PubMed1992

An HLA study in 74 Danish haemochromatosis patients and in 21 of their families.

HLA-A and -B alleles in 74 Danish patients and 21 homozygous relatives with idiopathic haemochromatosis (IH) were compared with those in a sample of 1719 chromosomes from healthy Danish control subjects. The following alleles occurred with higher frequencies in IH compared to controls: A3: 53.6% vs. 15.1% (Pc less than 0.001); B7: 33.1% vs. 15.6% (Pc less than 0.001); B14: 6.9% vs. 3.0% (Pc greater than 0.05); B38: 5% vs. 0.9% (Pc greater than 0.05); B47: 4.0% vs. 0.4% (Pc greater than 0.05). Pedigree analyses disclosed 19 different haplotypes in IH subjects, compared to 286 haplotypes in controls. The following haplotypes occurred with higher frequency in IH compared to controls: A3,B5: 10.3% vs. 0.3% (Pc less than 0.001); A3,B7: 25.6% vs. 6.6% (Pc = 0.001); A3,B14: 3.4% vs. 0.6% (Pc greater than 0.05); A3,B47: 6.9% vs. 0.2% (Pc greater than 0.05). The major IH marker HLA-A3 was found in 56% of the haplotypes. The patterns of HLA-alleles associated with IH in Denmark show similarities to those in Central Europe, Australia, USA and Canada, being A3,B7 dominated and those in Central Sweden, England and Ireland, being A3,B14 dominated.

Adolescent↗
PubMed1992

Causes of death in patients with Huntington's disease and in unaffected first degree relatives.

Causes of death were examined from death certificates for 395 Danish subjects with Huntington's disease (HD) and for 282 unaffected sibs and compared with the causes of death in the general Danish population. For both the HD subjects and the sibs, pneumonia and cardiovascular diseases were the most frequent primary causes of death. Suicides accounted for 5.6% of all deaths among the HD subjects and, unexpectedly, for 5.3% among the sibs, some of whom may have been carriers of the HD gene. Both were significantly higher than the corresponding frequency of 2.7% in the general Danish population, but there was no evidence of differences in the age specific proportions for the HD subjects and for the sibs compared to the general population. Some accidents leading to death in the sibs may have been hidden suicides. The rate of cancer was low for the HD patients, being only 5.3% compared with 31.2% for the sibs. Neurological diseases were reported with an increased frequency in the HD patients compared to the general population, 6% v 1%.

Accidents↗
PubMed1992

Reduced regional cerebral blood flow in Huntington's disease studied by SPECT.

Regional cerebral blood flow (rCBF) was studied in 18 patients with Huntington's disease (HD) and 19 age- and sex-matched controls with high resolution single photon emission computerised tomography (SPECT), using Tc-99m-HMPAO. Significant reductions in tracer uptake were found in the caudate and lentiform nuclei (20 and 8%) and in the cerebral cortex, especially in the frontal and parietal areas (11-13%). No significant reductions were found in the thalamus, mesial temporal cortex, and occipital cortex. Fourteen patients had neuropsychological testing. Relationship between rCBF and cognitive function was tested by regression analysis. A linear relationship was found between test scores of Wisconsin Card Sorting Test, Picture Arrangement Test and blood flow in the caudate nucleus. Other tests of cognitive function (Block Design Test, Face and Word Recognition Test, Street Fragmented Pictures Test, and Similarities Test) correlated better with flow in the cortical regions believed to be involved in solving those particular tests. These findings indicate, that blood flow is reduced in both cortical and subcortical structures in symptomatic HD, and that both reductions in cortical and subcortical blood flow may be related to cognitive function in HD.

Adult↗
PubMed1990

Family studies of hereditary hemochromatosis in Denmark and the Faroe Islands.

Pedigree studies were performed based on one Faroese and four Danish probands with overt idiopathic hemochromatosis (IH). The study consisted of HLA typing and determination of biochemical iron status indicators (serum transferrin saturation, serum ferritin). In total, 130 persons were evaluated. The screening identified 6 homozygous (h/h) subjects with preclinical IH, 46 heterozygous (h/n), and 8 normal (n/n) subjects, while 39 subjects were classified as normal or heterozygous (n/h?). One family demonstrated both a homozygous x heterozygous as well as a heterozygous x heterozygous mating. Recombination between the HLA region and IH locus occurred possibly in three subjects in three different families. The significance of detailed screening in families with probands with IH is discussed.

Adolescent↗
PubMed1990

An MHC (HLA-A, -B, C2, BF, HLA-DR, GLO1) haplotype study of 497 Danish normal families with 1970 children including 97 twin pairs.

Extended MHC haplotypes comprising HLA-A, -B, -DR, C2, BF and GLO1 loci observed in the parents of 497 Danish normal families are presented, with particular regard to the haplotypes that include BF variants or the C2*2 allele. The known association of HLA-B35, -DR1 with both -A3 and -A11 appeared to depend upon the BF type: HLA-B35, BF*S, -DR1 is strongly associated with -A11, whereas -B35,BF*F,-DR1 is strongly associated with -A3. Further, in the present material DZ twins of the same sex shared HLA-haplotypes more often than did twin pairs of different sex.

Denmark↗
PubMed1989

Huntington's chorea: general practitioners' knowledge about individuals' at-risk status.

We assessed general practitioners' knowledge about the at-risk status of offspring of persons suffering from Huntington's chorea. Of 97 practitioners who were questioned about only one at-risk individual, 16 were aware of the person's at-risk status, while nine of 26 practitioners who were questioned about more than one at-risk person were aware of it. The results indicate that prophylactic action can be achieved more efficiently by registration of families in which Huntington's chorea occurs, followed by genetic counselling.

Female↗
PubMed1988

HLA determinants in 70 Danish patients with idiopathic haemochromatosis.

HLA-A, -B, -C and -DR antigens were determined in 70 unrelated Danish patients with idiopathic haemochromatosis. The frequencies of HLA-A and -B antigens compared to 1967 normal control subjects and the relative risk values (RR) were: A3, 80.0% vs. 26.9% (P less than 0.0001), RR = 10.9; B7, 60.0% vs. 26.8% (P less than 0.0001), RR = 4.1; B14, 10.0% vs. 4.5% (P = 0.03), RR = 2.4; B47, 4.3% vs. 0.5% (P less than 0.0001), RR = 9.7; A3, B7, 51.4% vs. 12.2% (P less than 0.0001), RR = 7.6; A3, B14, 10.0% vs. 1.4% (P less than 0.0001), RR = 7.7; A3, B47, 4.3% vs. 0.5% (P less than 0.0001), RR = 9.7. Six patients (8.6%) possessed none of these four typical antigens. There was no association between disease and the frequencies of HLA-C and HLA-DR antigens. The pattern of HLA-antigens associated with haemochromatosis in Denmark shows similarities to those reported both in Germany, being HLA-A3, B7 dominated, and in Brittany, Great Britain and Central Sweden, being HLA-A3, B14 dominated.

Adult↗
PubMed1988

Metacarpophalangeal relations in 21 Danish patients with achondroplasia.

Hand radiographs of 21 Danish patients suffering from achondroplastic chondrodystrophia were obtained to study the metacarpophalangeal relations. Mean pattern profiles based on z-scores were made for males, females, children, and adults. Metacarpal index and relative slenderness for metacarpals and proximal phalanges were calculated. The second to fourth metacarpals and third and fourth proximal phalanges were disproportionately short, and the distal phalanges were disproportionately long. The relation between hand size and height seemed to be the same for the achondroplasts as for normal persons. The metacarpal sign was found in four of the 21 patients.

Achondroplasia↗
PubMed1987

PEDIGREE-PLOT: a computer program for plotting pedigrees.

PEDIGREE-PLOT is a FORTRAN program which can be used for the drawing of pedigrees in either a horizontal or a circular shape. Eight different symbols are available for characterizing a person. Special symbols for stillbirth, abortion, unspecified sex, twins and half sibships exist.

Humans↗
PubMed1986

ADOXI-PLOT: a computer program for plotting pedigrees illustrating autosomal dominant and X-linked inheritance.

A FORTRAN program ADOXI-PLOT (Autosomal Dominant Or X-linked Inheritance Plot) has been developed. Different symbols are used to characterize individual family members. Depending on the size of the kindred, the pedigree automatically obtains a rectangular or circular appearance. The program can be used alone, or be connected to a register of families from which the input information for the plot program is obtained.

Computers↗
PubMed1986

Number of "high genes" involved in determining the activity of paraoxonase.

The genetics of paraoxonase activity is further analysed on the basis of a Danish family material (Eiberg & Mohr 1981), namely a random sample of the investigated two mating types. The starting point is the earlier assumption that the segregation into high and low activity is due to alleles on a single locus with the frequency 0.726 of low genes (Eiberg & Mohr 1981, Nielsen et al. 1986). It is shown that a hypothesis of two "high genes", h1 and h2 on the same locus, with allele frequencies 0.117 and 0.157, both high genes being dominant over low genes and h2 dominant over h1, may explain the observed pattern of segregation. The hypothesis would imply average activities of genotype 1h1 of 960 microM PNP/1, of 1h2 1385 microM PNP/1, of h1h1 1202 microM PNP/1, and of h1h2 and h2h2 2048 microM PNP/1. It cannot be excluded that there are more than two "high genes". It is further shown that more than one "low gene" must be involved.

Alleles↗
PubMed1985

Discriminant analysis of dermatoglyphic sole and palm patterns in Danish cri du chat probands and normal controls.

Dermatoglyphic sole and palm patterns were studied in Danish cri du chat probands and in two control groups in order to estimate the diagnostic usefulness of the patterns. A linear discriminant function was developed based on three sole variables (I, III, IV) and four palm patterns (I, axial triradius, simian lines and IV + IVU + IVD), respectively. The palm patterns gave a better separation than the sole patterns. Only one of the 31 probands was not classified correctly from both sole and palm patterns. Dermatoglyphic analysis may therefore be of some diagnostic use along with other clinical features in cases with suspicion of the cri du chat syndrome.

Chromosome Deletion↗
PubMed1985

Mortality, pathological findings and causes of death in the de Lange syndrome.

The mortality of 48 de Lange patients born 1917-82 was found slightly raised compared with the expected number of deaths, and the survival rates appeared to be lowered. No sex differences were observed. The causes of death and the pathological findings were evaluated in 11 patients. Pneumonia was the most frequent cause of death (6 patients). Congenital malformations seemed to be contributory causes of death in 5 patients, the most frequent being congenital heart disease and gastro-intestinal malformations. A wide variety of malformations were found but no consistent macroscopic or microscopic abnormalities could be demonstrated. An incidence figure of 1:50 000 was found for the years 1967-82.

Abnormalities, Multiple↗
PubMed1978

Measurements on hand radiographs from 32 cri-du-chat probands.

Various measurements were performed on the hand radiographs of 32 Danish cri-du-chat probands. Mean pattern profiles were made for males, females, children, and adults. Metacarpal index and relative slenderness for metacarpals and proximal phalanges were calculated. The hands were smaller than in normal persons of the same sex and age. In most of the probands, the 3rd, 4th, and 5th metacarpals were disproportionately short, and the 2nd, 3rd, 4th, and 5th proximal phalanges were disproportionately long. Only 1 case had a positive metacarpal sign.

Adolescent↗