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92 records – page 1 of 10.

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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Absence of HTLV-1 related sequences in MS from high prevalence areas in western Norway.

https://arctichealth.org/en/permalink/ahliterature219178
Source
Acta Neurol Scand. 1994 Jan;89(1):65-8
Publication Type
Article
Date
Jan-1994
Author
K M Myhr
P. Frost
M. Grønning
R. Midgard
K H Kalland
D E Helland
H I Nyland
Author Affiliation
Department of Neurology, University of Bergen, Norway.
Source
Acta Neurol Scand. 1994 Jan;89(1):65-8
Date
Jan-1994
Language
English
Publication Type
Article
Keywords
Adult
Blotting, Southern
Cross-Sectional Studies
Female
HTLV-I Infections - epidemiology
Humans
Incidence
Male
Middle Aged
Multiple Sclerosis - epidemiology
Norway - epidemiology
Polymerase Chain Reaction
Risk factors
Abstract
In Western Norway, long-term follow up epidemiological studies have revealed significant increases in the incidence and prevalence rates of multiple sclerosis (MS) in stable populations, indicating the impact of exogenous factors. In this study 183 MS patients and 102 controls from high prevalence areas in Western Norway were investigated for human T-lymphotropic virus type I (HTLV-1) related sequences by polymerase chain reaction. Using primers targeting the gag, pol and env genes in the HTLV-1 provirus genome, no amplification products were detected in the 183 MS patients or 102 controls. The results strongly suggest that neither HTLV-1 nor a closely related retrovirus participate in the aetiology of MS.
Notes
Erratum In: Acta Neurol Scand 1994 Aug;90(2):143
PubMed ID
8178631 View in PubMed
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The acetic acid test in evaluation of subclinical genital papillomavirus infection: a comparative study on penoscopy, histopathology, virology and scanning electron microscopy findings.

https://arctichealth.org/en/permalink/ahliterature24490
Source
Genitourin Med. 1992 Apr;68(2):90-9
Publication Type
Article
Date
Apr-1992
Author
A. Wikström
M A Hedblad
B. Johansson
M. Kalantari
S. Syrjänen
M. Lindberg
G. von Krogh
Author Affiliation
Department of Dermatovenereology, Karolinska Hospital, Stockholm, Sweden.
Source
Genitourin Med. 1992 Apr;68(2):90-9
Date
Apr-1992
Language
English
Publication Type
Article
Keywords
Acetic Acid
Acetic Acids - diagnostic use
Blotting, Southern
Comparative Study
Endoscopy
Humans
Male
Microscopy, Electron, Scanning
Papillomavirus
Penile Diseases - diagnosis - pathology
Polymerase Chain Reaction
Predictive value of tests
Sensitivity and specificity
Tumor Virus Infections - diagnosis - pathology
Abstract
OBJECTIVES--To evaluate colposcopic criteria in acetowhite lesions of the penis ("penoscopy") for the diagnosis of subclinical genitoanal papillomavirus infection (GPVI) compared with histopathological criteria of HPV involvement and to various hybridisation assays for HPV DNA detection, and to depict typical lesions by scanning electron microscopy. DESIGN--The study included 101 randomly selected male partners of females with known GPVI, or with penile symptoms such as itching, burning and dyspareunia who did not exhibit overt genital warts but appeared to be afflicted with acetowhite penile lesions after topical application of 5% acqueous acetic acid. Lesions were judged by penoscopy as either typical, conspicuous or nontypical for underlying HPV infection. Biopsy specimens from 91 men were examined by light microscopy and by either Southern blot (SB), polymerase chain reaction (PCR) and/or in situ hybridisation (ISH) assays for the presence of HPV DNA of the HPV types 6, 11, 16, 18, 31, 33 and 42 (Group A). From another ten men lesions clinically typical for GPVI were also examined topographically by scanning electronic microscopy (Group B). SETTING--The STD out-patient clinic of the Department of Dermatovenereology of Karolinska Hospital, Stockholm, Sweden. RESULTS--Group A Seventy eight (86%) of the biopsied lesions met the penoscopy criteria of being either typical of or conspicuous for GVPI. The agreement between penoscopy and histopathology was fairly good, as HPV diagnosis was made by both methods in 56 (62%) of the cases. The reliability of applying strict colposcopic hallmarks was further substantiated by the finding that 55 (60%) of the biopsy specimens taken from penoscopically typical/conspicuous lesions contained HPV DNA. However, there are diagnostic pitfalls for the acetic acid test. Coexistence of an eczematoid reaction with changes indicative of HPV influence was detected in six (7%) of the cases, while an inflammatory response only occurred in 17 (19%) of the specimens. Additional histopathological diagnoses (normal epithelium, lichen sclerosus et atrophicus, balanitis circinata parakeratotica, verruca plana) were established in another eight (9%) of the cases. Among the HPV DNA positive cases, all of the HPV types tested for were detected with the exception of HPV 18. A severe penile intraepithelial neoplasia (PIN III) was revealed in five (5%) of biopsies; HPV 16 was present in two and HPV 42 in one of these biopsy specimens. GROUP B--Scanning electron microscopy depiction harmonised with the penoscopy findings showing that subclinical GPVI characteristically exhibits a well demarcated, slightly elevated border and that the central area of lesions often displays a "groove" in which the epithelium appears to be thin with protrusions from beneath that probably represent capillaries. CONCLUSION--Use of the acetic acid test for evaluation of GPVI should be combined with a colposcopic evaluation based on strict topographic hallmarks, followed by a directed biopsy for light microscopic evaluation. We found that the positive predictive value of colposcopy was as high when correlated with histopathological findings (72%) as when virological methods were used, whether HPV DNA hybridisation testing was performed with the well established SB and ISH assays (45%), or by applying the newly introduced and highly sensitive PCR assay as well (71%). False positivity from the acetic acid test occurs and is mainly due to inflammatory conditions but also to the presence of other conditions. Epithelial fissures are evidently associated with some subclinical GPVI lesions and may potentially represent loci minores for infectious stimuli and perhaps facilitate the transmission of some blood-borne STDs. We prose that the term "papillomavirus balanoposthitis" should be used for penile HPV infection associated with inflammatory responses. Our study indicates that PIN III frequently occurs in a subclinical form and may be associated with not only previously identified "high-risk" HPV types such as type 16, but also with the HPV type 42 that has not previously been considered as oncogenic.
PubMed ID
1316310 View in PubMed
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Allotype distribution of human T cell receptor beta and gamma chain genes in Caucasians, Asians and Australian aborigines: relevance to chronic hepatitis B.

https://arctichealth.org/en/permalink/ahliterature224096
Source
Hum Genet. 1992 Apr;89(1):59-63
Publication Type
Article
Date
Apr-1992
Author
P. Soeharso
K M Summers
W G Cooksley
Author Affiliation
Department of Biochemistry, University of Queensland, Australia.
Source
Hum Genet. 1992 Apr;89(1):59-63
Date
Apr-1992
Language
English
Publication Type
Article
Keywords
Alleles
Asian Continental Ancestry Group - genetics
Blotting, Southern
Carrier State - immunology
Chronic Disease
Continental Population Groups
European Continental Ancestry Group - genetics
Hepatitis B - genetics - immunology
Humans
Oceanic Ancestry Group - genetics
Polymorphism, Restriction Fragment Length
Receptors, Antigen, T-Cell, alpha-beta - genetics - immunology
Receptors, Antigen, T-Cell, gamma-delta - genetics - immunology
Abstract
RFLPs of TCR beta and gamma genes have been analyzed in chronic HBV carriers of three different ethnic populations to determine if there is an association of TCR allotypes with the development of chronic hepatitis B. The RFLPs of TCR beta and gamma genes were defined respectively by BglII and PvuII genomic fragments on Southern blots. These methods allow allotype assignment. The distribution of TCR beta alleles showed ethnic variation, with one allele significantly decreased in Australian Aborigines, but there was no association with chronic hepatitis B. The distribution of TCR gamma alleles did not show ethnic variation. However, a significant frequency decrease of one allele occurred in Aboriginal HBV carriers, suggesting the possibility of involvement of TCR gamma allotypes in the development of the chronic HBV carrier state in Australian Aborigines.
PubMed ID
1349565 View in PubMed
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Amplification of HER-2(erbB-2/neu) oncogene as the most significant prognostic factor in a group of Russian breast cancer patients.

https://arctichealth.org/en/permalink/ahliterature222515
Source
Neoplasma. 1993;40(1):35-9
Publication Type
Article
Date
1993
Author
E N Imyanitov
O I Chernitsa
O M Serova
I F Nikoforova
G F Pluzhnikova
P G Knyazev
Author Affiliation
N.N. Petrov Research Institute of Oncology, Laboratory of Molecular Genetics of Cancer, St. Petersburg, Russia.
Source
Neoplasma. 1993;40(1):35-9
Date
1993
Language
English
Publication Type
Article
Keywords
Blotting, Northern
Blotting, Southern
Breast Neoplasms - genetics - pathology
Chi-Square Distribution
Chromosomes, Human, Pair 17
DNA - analysis - isolation & purification
Female
Follow-Up Studies
Gene Amplification
Gene Expression Regulation, Neoplastic
Genes, p53
Humans
Menopause
Middle Aged
Oncogene Proteins v-erbB
Oncogene Proteins, Viral - genetics
Oncogenes
Prognosis
RNA - analysis - isolation & purification
Receptor, erbB-2
Receptors, Estrogen - biosynthesis
Receptors, Progesterone - biosynthesis
Retroviridae Proteins, Oncogenic - genetics
Russia
Transcription, Genetic
Abstract
Amplification of HER-2(erbB-2/neu) oncogene was detected in 36 of 142 (25%) breast carcinomas (BC) RNA expression was examined in 42 carcinomas, in 10 of them overexpression was revealed. Amplification was matched by overexpression. No association was found between the increased number of HER-2(erbB-2/neu) copies and tumor size, lymph node involvement, stage of disease, age of onset, and estrogen and progesterone receptor level. HER-2(erbB-2/neu) amplification was shown to be of independent prognostic significance in the group of 32 BC patients with sufficient follow-up (more than 40 months). Six of 7 HER-2(erbB-2/neu) amplification-positive patients and only 2 of 25 HER-2(erbB-2/neu) amplification-negative ones relapsed (p
PubMed ID
7688867 View in PubMed
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Association of telomere length in older men with mortality and midlife body mass index and smoking.

https://arctichealth.org/en/permalink/ahliterature133497
Source
J Gerontol A Biol Sci Med Sci. 2011 Jul;66(7):815-20
Publication Type
Article
Date
Jul-2011
Author
Timo E Strandberg
Outi Saijonmaa
Reijo S Tilvis
Kaisu H Pitkälä
Arto Y Strandberg
Tatu A Miettinen
Frej Fyhrquist
Author Affiliation
Unit of General Practice, Institute of Health Sciences/Geriatrics, University of Oulu and University Hospital, Finland. timo.strandberg@oulu.fi
Source
J Gerontol A Biol Sci Med Sci. 2011 Jul;66(7):815-20
Date
Jul-2011
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aging - genetics
Blotting, Southern
Body mass index
Cardiovascular Diseases - etiology - genetics - mortality
DNA - analysis - genetics
Finland - epidemiology
Follow-Up Studies
Humans
Male
Middle Aged
Overweight - etiology - genetics - mortality
Questionnaires
Retrospective Studies
Risk factors
Smoking - adverse effects - genetics - mortality
Survival Rate - trends
Telomere - chemistry - genetics
Time Factors
Abstract
Leukocyte telomere length has been taken as a measure of biological age but several inconsistencies exist.
We investigated associations between leukocyte telomere length in old age, midlife risk factors, and mortality. The Helsinki Businessmen Study (a cohort of mainly business executives, born 1919-1934) had baseline assessments of cardiovascular risk factors including body mass index between 1964 and 1973 at a mean age of 40. Leukocyte telomere length and proportion of short telomeres were measured from DNA samples collected in 2002-2003 (n = 622, mean age 78 years). Body mass index and smoking in old age were assessed from questionnaires. Total mortality was verified from registers through January 2010. Main outcome measures were relationships between telomeres, body mass index, smoking, and mortality.
Leukocyte telomere length and notably proportion of short telomeres (
PubMed ID
21697500 View in PubMed
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c-erbB-2 positivity is a factor for poor prognosis in breast cancer and poor response to hormonal or chemotherapy treatment in advanced disease.

https://arctichealth.org/en/permalink/ahliterature19966
Source
Eur J Cancer. 2001 Feb;37(3):347-54
Publication Type
Article
Date
Feb-2001
Author
A. Jukkola
R. Bloigu
Y. Soini
E R Savolainen
K. Holli
G. Blanco
Author Affiliation
Department of Oncology, University of Oulu, Finland.
Source
Eur J Cancer. 2001 Feb;37(3):347-54
Date
Feb-2001
Language
English
Publication Type
Article
Keywords
Antineoplastic Agents, Hormonal - therapeutic use
Blotting, Southern
Breast Neoplasms - drug therapy - genetics - metabolism
Disease-Free Survival
Female
Genes, erbB-2 - genetics
Humans
Immunohistochemistry
Polymerase Chain Reaction - methods
Prognosis
Receptor, erbB-2 - metabolism
Regression Analysis
Retrospective Studies
Treatment Outcome
Abstract
The aim of this work was to evaluate the prognostic and predictive values of c-erbB-2 in breast cancer. 650 patients were enrolled. The amplification/overexpression of c-erbB-2 from fresh frozen or paraffin-embedded breast tumour tissue samples was analysed by polymerase chain reaction (PCR) technique (75%), immunohistochemically (17%) or by Southern blot analysis (8%). 126 patients (19%) were positive for c-erbB-2. 148 patients developed metastatic disease, but only 35 were positive for c-erbB-2. Positivity for c-erbB-2 was significantly associated with node positivity, large tumour size, high grade of malignancy, low receptor status, postmenopausal status, and with a shorter overall survival. In multivariate regression analysis, only tumour size and nodal involvement were risk factors for poor survival when analysed separately together with c-erbB-2 and receptor status. Metastatic patients with c-erbB-2 positivity had a significantly shorter survival and disease-free survival (DFS) than the c-erbB-2-negative patients. 29 advanced patients with c-erbB-2 positivity showed a poor response rate to hormonal, non-anthracycline-based and anthracycline-based therapies. Positivity for the c-erbB-2 is a poor prognostic factor in breast cancer, but it also emerges as predictive of the response to hormonal or chemotherapy treatment once the disease has recurred.
PubMed ID
11239756 View in PubMed
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Characterisation of streptomycin resistance determinants in Danish isolates of Salmonella Typhimurium.

https://arctichealth.org/en/permalink/ahliterature10433
Source
Vet Microbiol. 2000 Jul 3;75(1):73-82
Publication Type
Article
Date
Jul-3-2000
Author
L. Madsen
F M Aarestrup
J E Olsen
Author Affiliation
Department of Veterinary Microbiology, The Royal Veterinary and Agricultural University, Stigboejlen 4, DK 1870 C, Frederiksberg, Denmark.
Source
Vet Microbiol. 2000 Jul 3;75(1):73-82
Date
Jul-3-2000
Language
English
Publication Type
Article
Keywords
Animals
Blotting, Southern - veterinary
Cattle
Cattle Diseases - drug therapy - microbiology
Colony Count, Microbial
Conjugation, Genetic - genetics
DNA Primers - chemistry
DNA, Bacterial - chemistry - isolation & purification
Denmark
Drug Resistance, Microbial - genetics
Electrophoresis, Agar Gel - veterinary
Humans
Nucleotidyltransferases - chemistry - genetics
Phosphotransferases (Alcohol Group Acceptor) - chemistry - genetics
Polymerase Chain Reaction - veterinary
Research Support, Non-U.S. Gov't
Salmonella Infections, Animal - drug therapy
Salmonella typhimurium - chemistry - drug effects - genetics
Sequence Analysis, DNA
Streptomycin - pharmacology
Swine
Swine Diseases - drug therapy - microbiology
Variation (Genetics) - genetics
Abstract
Fifty six Danish streptomycin (Sm) resistant isolates of Salmonella enterica serotype Typhimurium from pigs (n=34), calves (n=3) and humans (n=19) were characterised with respect to co-resistances (14 drugs), transferability of Sm-resistance by conjugation, genetic determinants encoding Sm-resistance and diversity with respect to localisation of genes in the genome and DNA-sequences. Forty-six strains carried resistance(s) other than Sm-resistance. Nineteen different co-resistance patterns were observed and tetracycline was the most commonly observed resistance in these patterns. In 22 of the strains, Sm-resistance was transferred by conjugation. Eleven strains contained the gene aadA only, six strains contained aadA+strA+strB, and 35 strains contained strA+strB. Partial sequences of aadA were obtained from four strains. Three strains showed identical sequences to a published aadA sequence from the transposon Tn7, and in one strain the sequence showed one synonymous substitution compared to this sequence. Partial sequences were obtained of strA and strB in seven strains. The sequence of strB was identical to the published sequence of the plasmid RSF1010 in all strains. All seven sequences of strA were identical and differed from the sequence of strA in RSF1010 by two non-synonymous substitutions.
PubMed ID
10865153 View in PubMed
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Characteristics of four cowpox virus isolates from Norway and Sweden.

https://arctichealth.org/en/permalink/ahliterature33739
Source
APMIS. 1998 Jun;106(6):623-35
Publication Type
Article
Date
Jun-1998
Author
M. Tryland
T. Sandvik
H. Hansen
G. Haukenes
L. Holtet
M. Bennett
R. Mehl
U. Moens
O. Olsvik
T. Traavik
Author Affiliation
Department of Arctic Veterinary Medicine, Norwegian College of Veterinary Medicine, Tromsø.
Source
APMIS. 1998 Jun;106(6):623-35
Date
Jun-1998
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Allantois - virology
Animals
Blotting, Southern
Cats
Chick Embryo
Child
Chorion - virology
Comparative Study
Cowpox - epidemiology - virology
Cowpox virus - genetics - growth & development - isolation & purification - ultrastructure
Female
Genome, Viral
Humans
Norway - epidemiology
Nucleic Acid Hybridization
Polymerase Chain Reaction
Research Support, Non-U.S. Gov't
Sweden - epidemiology
Thymidine Kinase - genetics
Viral Proteins - genetics
Abstract
We report the first isolation of cowpox virus from a domestic cat in Norway, and the first confirmed isolation of cowpox virus from a human case in Norway. These two Norwegian cowpox virus isolates, as well as two Swedish human isolates, were partially characterized and compared with each other and with cowpox virus Brighton and vaccinia virus strain Western Reserve. Restriction enzyme analysis of the genomes revealed differences between all six viruses examined, but suggested that the two Norwegian isolates are closely related, as are the two Swedish isolates. Restriction endonuclease digestion of genomic DNA demonstrated that one of the Swedish isolates and the two Norwegian isolates have larger genomes than vaccinia virus strain Western Reserve, but smaller than cowpox Brighton. All four Scandinavian isolates lacked a 72 base-pair region within the A-type inclusion body protein gene which is present in the prototype cowpox virus Brighton.
PubMed ID
9725795 View in PubMed
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92 records – page 1 of 10.