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A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects.

https://arctichealth.org/en/permalink/ahliterature36531
Source
Clin Genet. 1992 Dec;42(6):288-95
Publication Type
Article
Date
Dec-1992
Author
O K Rødningen
O. Røsby
S. Tonstad
L. Ose
K. Berg
T P Leren
Author Affiliation
Department of Medical Genetics, Ullevål Hospital, Oslo, Norway.
Source
Clin Genet. 1992 Dec;42(6):288-95
Date
Dec-1992
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Base Sequence
Blotting, Southern
Child
Cholesterol - blood
DNA - analysis
Exons - genetics
Female
Haplotypes
Humans
Hypercholesterolemia, Familial - genetics
Male
Middle Aged
Molecular Sequence Data
Norway
Pedigree
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Receptors, LDL - genetics
Research Support, Non-U.S. Gov't
Sequence Analysis, DNA
Sequence Deletion
Xanthomatosis - etiology
Abstract
Haplotype analysis of the low density lipoprotein receptor (LDLR) gene was performed in Norwegian subjects heterozygous for familial hypercholesterolemia (FH). Southern blot analysis of genomic DNA, using an exon 18 specific probe and the restriction enzyme NcoI, showed that two out of 57 unrelated FH subjects had an abnormal 3.6 kb band. Further analyses revealed that this abnormal band was due to a 9.6 kb deletion that included exons 16 and 17. The 5' deletion breakpoint was after 245 bp of intron 15, and the 3' deletion breakpoint was in exon 18 after nucleotide 3390 of cDNA. Thus, both the membrane-spanning and cytoplasmatic domains of the receptor had been deleted. A polymerase chain reaction (PCR) method was developed to identify this deletion among other Norwegian FH subjects. As a result of this screening one additional subject was found out of 124 subjects screened. Thus, three out of 181 (1.7%) unrelated Norwegian FH subject possessed this deletion. The deletion was found on the same haplotype in the three unrelated subjects, suggesting a common mutagenic event. The deletion is identical to a deletion (FH-Helsinki) that is very common among Finnish FH subjects. However, it is not yet known whether the mutations evolved separately in the two countries.
PubMed ID
1362925 View in PubMed
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[Application of gene technology in the diagnosis of familial hypercholesterolemia]

https://arctichealth.org/en/permalink/ahliterature54549
Source
Tidsskr Nor Laegeforen. 1997 Feb 20;117(5):678-81
Publication Type
Article
Date
Feb-20-1997
Author
T P Leren
K S Bakken
O K Rødningen
K E Gundersen
H. Sundvold
K. Berg
S. Tonstad
L. Ose
Author Affiliation
Avdeling for medisinsk genetikk, Ullevål sykehus, Blindern, Oslo.
Source
Tidsskr Nor Laegeforen. 1997 Feb 20;117(5):678-81
Date
Feb-20-1997
Language
Norwegian
Publication Type
Article
Keywords
DNA Mutational Analysis
English Abstract
Female
Genetic Techniques
Humans
Hypercholesterolemia, Familial - diagnosis - genetics
Male
Norway
Receptors, LDL - genetics
Research Support, Non-U.S. Gov't
Abstract
Familial hypercholesterolaemia is an autosomal dominant disorder characterized by hypercholesterolaemia, xanthomas and premature coronary heart disease. Treatment of hypercholesterolemia is effective and consists of dietary changes and lipid lowering drugs. Only a minor proportion of familial hypercholesterolaemia patients are adequately treated, however. One explanation for this is assumed to be the relatively vague clinical diagnostic criteria applied. Because familial hypercholesterolaemia is caused by a mutation in the gene encoding the low density lipoprotein (LDL) receptor, mutation analysis of this gene could form the basis for specific diagnosis. 29 different mutations in the LDL receptor gene have been found to cause familial hypercholesterolaemia among Norwegian patients, and a total of 681 patients from 322 unrelated families have been provided with a molecular genetic diagnosis. We conclude that the use of molecular genetic analysis is feasible, and should be used clinically.
PubMed ID
9102960 View in PubMed
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[Are prosecuted parents allowed the benefit of the doubt in cases of child abuse?]

https://arctichealth.org/en/permalink/ahliterature37778
Source
Tidsskr Nor Laegeforen. 1990 Feb 20;110(5):627-8
Publication Type
Article
Date
Feb-20-1990
Author
T. Aakhus
F. Brosstad
J. Halse
L. Ose
E K Brodwall
P. Finne
J. Natvig
P. Stavem
A. Heiberg
L A Orstavik
Author Affiliation
Røntgenavdelingen. Rikshospitalet, Oslo.
Source
Tidsskr Nor Laegeforen. 1990 Feb 20;110(5):627-8
Date
Feb-20-1990
Language
Norwegian
Publication Type
Article
Keywords
Child
Child Abuse - diagnosis - legislation & jurisprudence - psychology
Diagnosis, Differential
English Abstract
Humans
Jurisprudence
Norway
Osteogenesis Imperfecta - diagnosis
Abstract
The justified campaign against child abuse has unfortunately had a side effect. It has ruined the lives of some innocent parents of children with undiagnosed osteogenesis imperfecta. For 15 years, Colin Paterson and co-workers have studied a large number of patients with type IV of osteogenesis imperfecta, and have found that more than 50 per cent of them have normal radiographs of the bones at the time of the first fracture. Paterson and co-workers have also found that fractures of the ribs and skull are by no means uncommon in osteogenesis imperfecta type IV. These important observations should help, in the future, to prevent prosecution of innocent parents of children with osteogenesis imperfecta type IV, provided that the observations are not overlooked by pediatricians.
PubMed ID
2309218 View in PubMed
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[Attitude to genetic screening for familial hypercholesterolemia].

https://arctichealth.org/en/permalink/ahliterature205477
Source
Tidsskr Nor Laegeforen. 1998 Apr 20;118(10):1578-81
Publication Type
Article
Date
Apr-20-1998
Author
L. Ose
L E Vollebaek
S. Tonstad
Author Affiliation
Medisinsk avdeling A Rikshospitalet, Oslo.
Source
Tidsskr Nor Laegeforen. 1998 Apr 20;118(10):1578-81
Date
Apr-20-1998
Language
Norwegian
Publication Type
Article
Keywords
Attitude to Health
Confidentiality
Genetic Testing
Humans
Hyperlipoproteinemia Type II - genetics - prevention & control
Norway
Patient Education as Topic
Abstract
Familial hypercholesterolemia causes premature cardiovascular disease. Genetic screening of patients' relatives who have already been diagnosed has proved to be more efficient than screening in a general population. Privacy laws in Norway forbid physicians to directly contact persons with genetic disorders who are not their own patients. We examined attitudes towards this type of screening in a representative sample of the Norwegian population and a group of patients with familial hypercholesterolaemia. In both groups the majority showed a positive attitude towards physicians contacting relatives directly to detect individuals with familial hypercholesterolaemia. In both groups the majority wanted to know whether, based on the diagnosis of relatives, they might also be affected. Both groups wanted this information regardless of the risk of their being affected. We conclude that the privacy laws should be amended to conform with the attitudes of the population and the patients, thus enabling physicians to contact relatives directly.
PubMed ID
9615587 View in PubMed
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Cerivastatin gender effect: sub-analyses of results from a multinational, randomised, double-blind study. Cerivastatin Study Group.

https://arctichealth.org/en/permalink/ahliterature197917
Source
Curr Med Res Opin. 2000;16(2):80-7
Publication Type
Article
Date
2000
Author
L. Ose
O. Luurila
J. Eriksson
A. Olsson
H. Lithell
B. Widgren
Author Affiliation
Lipid Clinic, Medical Department, Rikshospitalet, Oslo, Norway. leiv.ose@rh.uio.no
Source
Curr Med Res Opin. 2000;16(2):80-7
Date
2000
Language
English
Publication Type
Article
Keywords
Adult
Aged
Analysis of Variance
Anticholesteremic Agents - pharmacology
Cholesterol, HDL - drug effects
Cholesterol, LDL - drug effects
Double-Blind Method
Female
Finland
Great Britain
Humans
Hypercholesterolemia - drug therapy
Male
Middle Aged
Pyridines - pharmacology
Risk factors
Scandinavia
Sex Factors
Abstract
We previously reported the results of a multicentre, randomised, double-blind, parallel-group study comparing the efficacy and safety of cerivastatin 0.4 mg/day and cerivastatin 0.2 mg/day in patients with primary hypercholesterolaemia. Exploratory analysis in this study suggested a gender difference in the 0.4 mg group: mean low-density lipoprotein cholesterol (LDL-C) decreased by 44.4 +/- 8.9% in women, compared with a mean decrease of 37.0 +/- 0.9% in men (p 40%, compared with 38.0% (n = 76) of men taking the same dose. In the cerivastatin 0.2 mg PP population, 34% (n = 17) of women had an LDL-C decrease of > 40%, compared with 19% (n = 18) of men. Mean LDL-C/HDL-C ratio decreased by 43% from baseline to the end of the study in the cerivastatin 0.4 mg PP group: -41.3% in males vs. -48.3% in females. In the cerivastatin 0.2 mg group, the decrease in LDL-C/HDL-C ratio from baseline to endpoint did not markedly differ between genders: -37.0% for males vs. -37.3% for females. Categorial analysis of the LDL-C/HDL-C ratio found that 90% of PP patients taking cerivastatin 0.4 mg, and 84% of PP patients taking cerivastatin 0.2 mg, had a low CHD risk (defined as a LDL-C/HDL-C ratio
PubMed ID
10893651 View in PubMed
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Determinants of lipid levels among children with heterozygous familial hypercholesterolemia in Norway.

https://arctichealth.org/en/permalink/ahliterature35222
Source
Arterioscler Thromb Vasc Biol. 1995 Aug;15(8):1009-14
Publication Type
Article
Date
Aug-1995
Author
S. Tonstad
T P Leren
M. Sivertsen
L. Ose
Author Affiliation
Medical Department A, National Hospital, Oslo, Norway.
Source
Arterioscler Thromb Vasc Biol. 1995 Aug;15(8):1009-14
Date
Aug-1995
Language
English
Publication Type
Article
Keywords
Adolescent
Apolipoproteins E - genetics
Body Composition
Child
Diet
Female
Heterozygote
Humans
Hypercholesterolemia, Familial - blood
Lipids - blood
Lipoproteins - blood
Lipoproteins, LDL Cholesterol - blood
Male
Norway
Polymorphism, Genetic
Regression Analysis
Abstract
Three founder mutations have been discovered among individuals with familial hypercholesterolemia (FH) in Norway: FHElverum and FHSvartor, predicted to be null alleles, and FHC210G, predicted to disrupt the secondary structure of the ligand-binding domain. To clarify the effect of these and other mutations on lipid levels and parental history of premature cardiovascular disease, we examined 164 boys and girls ages 6 to 16 years with heterozygous FH. Among all children, serum cholesterol levels of the FH parent, percent body fat, pubertal stage, and serum cholesterol levels of the non-FH parent, but not apo E polymorphism, were significant determinants of LDL cholesterol levels in a stepwise multiple regression equation and explained 40% (95% confidence interval [Cl], 25% to 55%) of the variance in LDL cholesterol. Among boys, percent body fat, dietary sucrose, and apo E genotype determined 31% (95% CI, 14% to 49%) of the variance in triglyceride levels; whereas among girls, only percent body fat was associated with triglyceride levels. Percent body fat was not associated with LDL cholesterol or triglyceride levels in the FHC210G group. The children's and FH parents' lipid levels and premature cardiovascular disease among parents were similar among the null-allele and defective-protein groups and in those with an undetected mutation. These data confirm that the phenotypic expression of FH in childhood is influenced by modifiable lifestyle characteristics and by genetic factors other than the underlying mutation and raise the possibility that body fatness may interact with genotype in determining lipid levels.
PubMed ID
7627689 View in PubMed
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[Diagnosis and treatment of severe hyperlipidemia]

https://arctichealth.org/en/permalink/ahliterature48140
Source
Tidsskr Nor Laegeforen. 1997 Nov 30;117(29):4241-4
Publication Type
Article
Date
Nov-30-1997
Author
S. Tonstad
T P Leren
L. Ose
Author Affiliation
Lipidklinikken Rikshospitalet, Oslo.
Source
Tidsskr Nor Laegeforen. 1997 Nov 30;117(29):4241-4
Date
Nov-30-1997
Language
Norwegian
Publication Type
Article
Keywords
Adult
Anticholesteremic Agents - therapeutic use
Antilipemic Agents - therapeutic use
English Abstract
Food Habits
Heterozygote
Homozygote
Humans
Hypercholesterolemia - diagnosis - drug therapy - genetics
Hypercholesterolemia, Familial - diagnosis - drug therapy - genetics
Hyperlipidemia, Familial Combined - diagnosis - drug therapy - genetics
Life Style
Male
Middle Aged
Abstract
Though severe hyperlipidaemia (total cholesterol level > or = 13 mmol/l in this study) is uncommon, it is important to make a precise diagnosis. We examined 57 patients with isolated severe hypercholesterolaemia. Of these, four were homozygotes for familial hypercholesterolaemia, 48 were heterozygotes for familial hypercholesterolacmia and one had sitosterolemia. The heterozygotes carried 15 different LDL receptor mutations, with no one mutation predominating. When the diagnosis is made, relatives should be given the opportunity to be tested. Combined severe hyperlipidaemia is usually due to a secondary cause, at our clinic, the most common cause is diabetes mellitus. The underlying disease should be treated first. However, many patients will require additional lipid-lowering drugs because the underlying disease may be associated with an increased risk of cardiovascular disease. With the exception of fish oil capsules, drugs that reduce serum triglyceride levels substantially are not registered in Norway at present.
PubMed ID
9441469 View in PubMed
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[Drug therapy of hypercholesterolemia. Treatment of hypercholesterolemia in adults--a Norwegian therapeutic program 1988]

https://arctichealth.org/en/permalink/ahliterature55424
Source
Tidsskr Nor Laegeforen. 1989 Mar 10;109(7-8):850-2
Publication Type
Article
Date
Mar-10-1989
Author
L. Ose
J P Blomhoff
H. Torsvik
Source
Tidsskr Nor Laegeforen. 1989 Mar 10;109(7-8):850-2
Date
Mar-10-1989
Language
Norwegian
Publication Type
Article
Keywords
English Abstract
Humans
Hydroxymethylglutaryl-CoA Reductase Inhibitors
Hypercholesterolemia - drug therapy
Niacin - therapeutic use
Norway
Probucol - therapeutic use
Resins, Plant - therapeutic use
Abstract
There are indications that treatment of hypercholesterolemia by means of drugs reduce risk of atherosclerosis in patients with increased concentrations of atherogenic lipoproteins. Such therapy should be initiated only after satisfactory exclusion of secondary causes of hyperlipoproteinemia, and should be regarded as an adjunct to appropriate dietary therapy. Drug therapy should be strongly considered in patients with total cholesterol above 8-9 mmol/l on diet therapy only. Drug therapy should be considered at even lower concentrations of cholesterol when coronary heart disease is present and in familial forms of hyperlipidemia when increased risk of atherosclerosis has been documented. In patients with increased plasma concentrations of total cholesterol the drugs of choice are agents which enhance the rate of LDL catabolism (resins) or reduce the rate of LDL synthesis (nicotinic acid). Fibrates should be used when triglycerides and cholesterol are both increased. HMG CoA reductase inhibitors offer considerable promise in the therapy of patients with primary hypercholesterolemia. Probucol may be used in combination with other drugs, particularly when xanthomas are present in patients with familial hypercholesterolemia.
PubMed ID
2705170 View in PubMed
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Effect of Norwegian fish powder on risk factors for coronary heart disease among hypercholesterolemic individuals.

https://arctichealth.org/en/permalink/ahliterature53938
Source
Nutr Metab Cardiovasc Dis. 2000 Dec;10(6):323-30
Publication Type
Article
Date
Dec-2000
Author
M S Nenseter
B. Østerud
T. Larsen
E. Strøm
C. Bergei
S. Hewitt
K B Holven
T A Hagve
S A Mjøs
M. Solvang
J. Pettersen
J. Opstvedt
L. Ose
Author Affiliation
Lipid Clinic, University of Oslo, Rikshospitalet, 0027 Oslo, Norway.
Source
Nutr Metab Cardiovasc Dis. 2000 Dec;10(6):323-30
Date
Dec-2000
Language
English
Publication Type
Article
Keywords
Adult
Aged
Coronary Disease - blood - prevention & control
Docosahexaenoic Acids - blood
Double-Blind Method
Female
Fish Products
Humans
Hypercholesterolemia - diet therapy
Lipids - blood
Lipoproteins - blood
Male
Middle Aged
Norway
Research Support, Non-U.S. Gov't
Risk factors
alpha-Linolenic Acid - blood
Abstract
BACKGROUND AND AIM: Numerous studies suggest an association between high intake of fatty fish and reduced risk of coronary heart disease. Very long-chain omega-3 fatty acids are thought to be responsible for the benefits observed, though other fatty fish components may act in concert with them. Norwegian fish powder is a dry herring product that contains essential amino acids, marine omega-3 fatty acids, vitamins and minerals. The aim of the present study was to determine whether it has beneficial effects on risk factors for coronary heart disease in man. METHODS AND RESULTS: A single center, randomized, double-blind, parallel-treatment study was carried out for 12 weeks. Subjects with primary hypercholesterolemia were randomly allocated to 10 g fish powder or placebo (20 tablets/day). Participants were instructed to follow National Cholesterol Education Program (NCEP) Step I Diet during a 4-week diet run-in phase and during the study. Concentrations of lipids, lipoproteins, hemostatic variables and endothelial cell markers were determined before and after supplementation. Our data showed that the fish powder supplement was well tolerated. A significant decrease and increase respectively were observed in plasma alpha-linolenic acid (p = 0.03) and docosahexaenoic acid (DHA) (p = 0.03). Concentrations of lipids, lipoproteins, homocysteine, factor VII, fibrinogen, tissue plasminogen activator (tPA), plasminogen activator inhibitor (PAI)-1, soluble intercellular adhesion molecule (ICAM)-1, P-selectin and interleukin (IL)-8 were not beneficially affected. CONCLUSIONS: Fish powder supplementation does not seem an effective approach to improve risk factors for coronary heart disease in hypercholesterolemic subjects following the NCEP Step I Diet.
PubMed ID
11302007 View in PubMed
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24 records – page 1 of 3.