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24 records – page 1 of 3.

[Aagenaes syndrome--lymphedema and intrahepatic cholestasis]

https://arctichealth.org/en/permalink/ahliterature58623
Source
Tidsskr Nor Laegeforen. 2001 May 30;121(14):1718-9
Publication Type
Article
Date
May-30-2001
Author
A. Heiberg
Author Affiliation
Avdeling for medisinsk genetikk Rikshospitalet 0027 Oslo.
Source
Tidsskr Nor Laegeforen. 2001 May 30;121(14):1718-9
Date
May-30-2001
Language
Norwegian
Publication Type
Article
Keywords
Cholestasis, Intrahepatic - genetics - history
English Abstract
History, 20th Century
Humans
Infant, Newborn
Lymphedema - genetics - history
Male
Norway
Portraits
Syndrome
Abstract
The combination of neonatal intrahepatic cholestasis and lymphoedema in feet and legs is a specific syndrome named after the Norwegian paediatrician Øystein Aagenaes, who described the syndrome in 1968. The condition is autosomal recessively inherited and the gene is located to 15q, but not yet identified. The condition is particularly frequent in the southern most part of Norway and the gene frequency is estimated to be about 3%. The development of small lymphoid vessels is probably deficient around the small biliary tracts and in general. Aagenaes' syndrome is found in patients from other parts of Europe and the US, but more than half of the cases are of Norwegian origin.
PubMed ID
11446017 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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Atrioventricular conduction time--a heritable trait?

https://arctichealth.org/en/permalink/ahliterature245189
Source
Clin Genet. 1980 Dec;18(6):450-3
Publication Type
Article
Date
Dec-1980
Author
P. Møller
A. Heiberg
Source
Clin Genet. 1980 Dec;18(6):450-3
Date
Dec-1980
Language
English
Publication Type
Article
Keywords
Adult
Atrioventricular Node - physiology
Electrocardiography
Female
Genetics, Population
Heart Conduction System - physiology
Humans
Male
Norway
Reference Values
Sex Factors
Abstract
Routine electrocardiographic tracings (ECGs) were obtained from 491 male and 236 female Norwegians. The atrioventricular conduction time (P-R interval) was read independently on coded ECGs by two physicians. The frequency distributions are presented: mean +/- 2 SD was 0.16 +/- 0.04 s and 0.15 +/- 0.04 s for males and females, respectively. Intra-individual repeatability over 1 year was high, and the measurement error was small. Within each sex, body size, age, heart rate and non-cardiac disease manifestations had little influence on the P-R interval. The P-R interval may be reliably determined in routine ECG tracings by trained observers.
PubMed ID
7449185 View in PubMed
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Breast cancer and other cancers in Norwegian families with ataxia-telangiectasia.

https://arctichealth.org/en/permalink/ahliterature25085
Source
Genes Chromosomes Cancer. 1990 Nov;2(4):339-40
Publication Type
Article
Date
Nov-1990
Author
A L Børresen
T I Andersen
S. Tretli
A. Heiberg
P. Møller
Author Affiliation
Department of Genetics, Norwegian Radium Hospital, Oslo.
Source
Genes Chromosomes Cancer. 1990 Nov;2(4):339-40
Date
Nov-1990
Language
English
Publication Type
Article
Keywords
Ataxia Telangiectasia - complications - epidemiology - genetics
Breast Neoplasms - complications - epidemiology - genetics
Female
Humans
Incidence
Male
Neoplasms - complications - epidemiology - genetics
Norway - epidemiology
Risk factors
Abstract
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.
PubMed ID
2268581 View in PubMed
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Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.

https://arctichealth.org/en/permalink/ahliterature20262
Source
Hum Mutat. 2000 Sep;16(3):232-46
Publication Type
Article
Date
Sep-2000
Author
K. Laake
L. Jansen
J M Hahnemann
K. Brondum-Nielsen
T. Lönnqvist
H. Kääriäinen
R. Sankila
A. Lähdesmäki
L. Hammarström
J. Yuen
S. Tretli
A. Heiberg
J H Olsen
M. Tucker
R. Kleinerman
A L Børresen-Dale
Author Affiliation
Department of Genetics, Norwegian Radium Hospital, Oslo, Norway.
Source
Hum Mutat. 2000 Sep;16(3):232-46
Date
Sep-2000
Language
English
Publication Type
Article
Keywords
Alternative Splicing - genetics
Ataxia Telangiectasia - epidemiology - genetics
Child
DNA Mutational Analysis
Denmark - epidemiology
Female
Finland - epidemiology
Heterozygote Detection
Humans
Loss of Heterozygosity - genetics
Male
Mutation - genetics
Norway - epidemiology
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Sweden - epidemiology
Abstract
The Ataxia Telangiectasia Mutation (ATM) gene is mutated in the rare recessive syndrome Ataxia Telangiectasia (AT), which is characterized by cerebellar degeneration, immunodeficiency, and cancer predisposition. In this study, 41 AT families from Denmark, Finland, Norway, and Sweden were screened for ATM mutations. The protein truncation test (PTT), fragment length and heteroduplex analyses of large (0.8-1.2 kb) cDNA fragments were used. In total, 67 of 82 (82%) of the disease-causing alleles were characterized. Thirty-seven unique mutations were detected of which 25 have not previously been reported. The mutations had five different consequences for the ATM transcript: mutations affecting splicing (43%); frameshift mutations (32%); nonsense mutations (16%); small in-frame deletions (5%); and one double substitution (3%). In 28 of the probands mutations were found in both alleles, in 11 of the probands only one mutated allele was detected, and no mutations were detected in two Finnish probands. One-third of the probands (13) were homozygous, whereas the majority of the probands (26) were compound heterozygote with at least one identified allele. Ten alleles were found more than once; one Norwegian founder mutation constituted 57% of the Norwegian alleles. Several sequence variants were identified, none of them likely to be disease-causing. Some of them even involved partial skipping of exons, leading to subsequent truncation of the ATM protein.
PubMed ID
10980530 View in PubMed
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[Chronically ill and disabled children--a challenge for health services]

https://arctichealth.org/en/permalink/ahliterature32213
Source
Tidsskr Nor Laegeforen. 2001 Mar 20;121(8):898
Publication Type
Article
Date
Mar-20-2001

Family similarities in the age at coronary death in familial hypercholesterolaemia.

https://arctichealth.org/en/permalink/ahliterature56063
Source
Br Med J. 1977 Aug 20;2(6085):493-5
Publication Type
Article
Date
Aug-20-1977
Author
A. Heiberg
J. Slack
Source
Br Med J. 1977 Aug 20;2(6085):493-5
Date
Aug-20-1977
Language
English
Publication Type
Article
Keywords
Adult
Age Factors
Aged
Cholesterol - blood
Coronary Disease - mortality
Female
Great Britain
Humans
Hypercholesterolemia - genetics
Male
Middle Aged
Norway
Abstract
In a combined Norwegian and British study of the age at death from coronary heart disease of heterozygotes for familial hypercholesterolaemia (FH) the correlation coefficients within families for 43 sib pairs was 0-70 and for 14 first cousin pairs 0-61. There was no significant correlation between the age at death and serum cholesterol concentration in either series. The intrafamilial correlations suggest that information about the age at death from coronary heart disease in heterozygotes within families may have some prognostic value and may also be interpreted as evidence for genetic heterogeneity in FH.
PubMed ID
890365 View in PubMed
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[Frambu Health Center: information to families with functionally impaired members]

https://arctichealth.org/en/permalink/ahliterature36885
Source
Nord Med. 1992;107(3):88-90
Publication Type
Article
Date
1992
Author
A. Heiberg
Author Affiliation
Frambu Helsesenter, Siggerud.
Source
Nord Med. 1992;107(3):88-90
Date
1992
Language
Norwegian
Publication Type
Article
Keywords
Activities of Daily Living
Adult
Child
Community Health Services
Disabled Persons
English Abstract
Family - psychology
Humans
Information Services
Life Style
Norway
Social Support
Abstract
Frambu Health Centre is an information and treatment centre serving many different categories of disabled children and their families, primarily Norwegian but also from the other Scandinavian countries. The aim is to support the family in their task of caring for the disabled person, and to improve the handicapped person's ability to function despite the disablement both in the home and at school or at work. The staff at the centre are specialised in the management of rare and poorly understood conditions, and work in cooperation with the appropriate services in the person's home town. A certain amount of research is also carried out at the centre into the life situation of handicapped people.
PubMed ID
1532249 View in PubMed
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[Genetic analysis in familial adenomatous polyposis]

https://arctichealth.org/en/permalink/ahliterature19132
Source
Tidsskr Nor Laegeforen. 2001 Jan 10;121(1):64-8
Publication Type
Article
Date
Jan-10-2001
Author
P A Andresen
T. Gedde-Dahl
O. Fausa
T J Eide
A. Heiberg
Author Affiliation
Patologisk-anatomisk avdeling 9038 Regionsykehuset i Tromsø. per.arne.andresen@rikshospitalet.no
Source
Tidsskr Nor Laegeforen. 2001 Jan 10;121(1):64-8
Date
Jan-10-2001
Language
Norwegian
Publication Type
Article
Keywords
Adenomatous Polyposis Coli - genetics
Chromosomes, Human, Pair 5
English Abstract
Female
Genes, APC
Genetic Counseling
Genetic Predisposition to Disease
Genetic Screening
Genetic Techniques
Genotype
Germ-Line Mutation
Humans
Male
Norway
Pedigree
Phenotype
Abstract
BACKGROUND: Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disorder caused by germline mutations in the APC gene. FAP is characterised by a variable, but normally large number of colorectal adenomas and variations in extracolonic manifestations. These variations are associated with specific mutations of the APC gene. MATERIAL AND METHODS: Representatives from 70 Norwegian families are under molecular investigation. Analyses have so far been concentrated on the part of the APC gene associated with classic FAP. RESULTS: Germline mutations causing FAP have been identified in 36 of the 70 families examined. All mutations identified are confined to the first half of the gene and correlate to classic FAP. INTERPRETATION: Because of the mutation heterogeneity in FAP, the size of the APC gene and variations in phenotype, it is a laborious task to identify the causative mutations. Better approaches to the analysis of the whole APC have now been established and will result in a higher degree of mutation detection independent of phenotype. Family history and phenotype-genotype correlations are still important guidelines for efficient molecular genetic analysis of the APC gene. Genetic surveillance, personal and socio-economic benefits from presymptomatic and predictive testing of members of FAP families are discussed.
PubMed ID
12013617 View in PubMed
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24 records – page 1 of 3.