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Causes of death in childhood-onset Type 1 diabetes: long-term follow-up.

https://arctichealth.org/en/permalink/ahliterature290006
Source
Diabet Med. 2017 01; 34(1):56-63
Publication Type
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't
Date
01-2017

CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations.

https://arctichealth.org/en/permalink/ahliterature125122
Source
Genes Immun. 2012 Jul;13(5):431-6
Publication Type
Article
Date
Jul-2012
Author
M C Eike
B. Skinningsrud
M. Ronninger
A. Stormyr
T K Kvien
G. Joner
P R Njølstad
O. Førre
B. Flatø
L. Alfredsson
L. Padyukov
D E Undlien
B A Lie
Author Affiliation
Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway. m.c.eike@medisin.uio.no
Source
Genes Immun. 2012 Jul;13(5):431-6
Date
Jul-2012
Language
English
Publication Type
Article
Keywords
Alleles
Arthritis, Rheumatoid - genetics
Autoantibodies - immunology
Epitopes - immunology
European Continental Ancestry Group - genetics
Genetic Predisposition to Disease
Genotype
Humans
Linkage Disequilibrium
Meta-Analysis as Topic
Nuclear Proteins - genetics
Polymorphism, Single Nucleotide
Scandinavia
Trans-Activators - genetics
Abstract
Expression of the major autoimmune risk loci DRB1 and DQB1 is regulated by the class II MHC (major histocompatibility complex) transactivator (CIITA), making the CIITA gene a strong autoimmune risk locus candidate. A CIITA promoter single-nucleotide polymorphism (SNP), rs3087456 (-168?A/G), has indeed been associated with several autoimmune diseases, including rheumatoid arthritis (RA). Recently, an intronic SNP rs8048002 has been suggested as a better susceptibility marker in Addison's disease. Therefore, we tested both SNPs in a panel of autoimmune diseases, consisting of Norwegian patients with RA (n=819), juvenile idiopathic arthritis (JIA; n=524), or type 1 diabetes (T1D; n=1211), and 2149 controls. We also included an independent Swedish RA cohort (n=2503) and controls (n=1416). Both rs3087456 and rs8048002 were significantly associated with RA (combined Norwegian and Swedish patients P(corrected)=0.012 and P(corrected)=0.0016, respectively), but not with JIA or T1D. Meta-analysis of 16 RA cohorts confirmed rs3087456 with only marginal significance (P=0.016). However, results were stronger in the Scandinavian subgroup (4 cohorts, P=3.8 ? 10(-4)), indicating a population-dependent effect. A similar pattern was observed in a meta-analysis of rs8048002. Our results support involvement of CIITA in RA, but imply that this is population dependent and that the aetiological variant is yet to be discovered.
PubMed ID
22513452 View in PubMed
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[Diagnosis and treatment of congenital hyperinsulinism--to Paris at any price?]

https://arctichealth.org/en/permalink/ahliterature32252
Source
Tidsskr Nor Laegeforen. 2001 Feb 20;121(5):612-4
Publication Type
Article
Date
Feb-20-2001
Author
O. Søvik
P R Njølstad
H. Reigstad
D. Brackman
I. Teslo
L. Brunvand
Author Affiliation
Barneklinikken, Haukeland Sykehus, 5021 Bergen. odso@haukeland.no
Source
Tidsskr Nor Laegeforen. 2001 Feb 20;121(5):612-4
Date
Feb-20-2001
Language
Norwegian
Publication Type
Article
Keywords
Child
Child, Preschool
Clinical Competence
English Abstract
Follow-Up Studies
Humans
Hyperinsulinism - congenital - diagnosis - genetics - surgery
Infant
Infant, Newborn
Norway
Pancreatectomy
Paris
Abstract
BACKGROUND: Persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) is a hyperfunctional disorder of pancreatic insulin-producing cells with hypertrophic beta-cells present either focally or diffusely. With an estimated frequency of 1:50,000 live births, Norway will on average have one case per year. It is clearly difficult to maintain expertise in diagnostics and treatment with such a low incidence. MATERIAL AND METHODS: We report three Norwegian patients with PHHI who were successfully treated at Hôpital des Enfants Malades in Paris. RESULTS: Two patients were shown to have focal hyperinsulinism treated with partial pancreas resection. After follow-up of three and a half and two years respectively, these patients have normal glucose tolerance and exocrine pancreatic function. One patient with diffuse hyperinsulinism was operated with subtotal (90%) pancreatectomy. At 2.5-years follow-up this patient has slight glucose intolerance whereas her fasting blood glucose is low normal. The exocrine pancreatic function is normal. INTERPRETATION: Patients with PHHI should be referred to a centre where the possibility of focal hyperinsulinism can be thoroughly explored.
PubMed ID
11301621 View in PubMed
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Diagnostic screening of NEUROD1 (MODY6) in subjects with MODY or gestational diabetes mellitus.

https://arctichealth.org/en/permalink/ahliterature47017
Source
Diabet Med. 2005 Aug;22(8):1012-5
Publication Type
Article
Date
Aug-2005
Author
J V Sagen
M E Baumann
H B Salvesen
A. Molven
O. Søvik
P R Njølstad
Author Affiliation
Section of Paediatrics, Institute of Clinical Medicine, University of Bergen, Bergen, Norway. Jorn.Sagen@pedi.uib.no
Source
Diabet Med. 2005 Aug;22(8):1012-5
Date
Aug-2005
Language
English
Publication Type
Article
Keywords
Adult
Basic Helix-Loop-Helix Transcription Factors
DNA-Binding Proteins - genetics
Diabetes Mellitus, Type 2 - epidemiology - genetics
Diabetes, Gestational - epidemiology - genetics
Female
Genetic Screening
Humans
Norway - epidemiology
Polymorphism, Genetic - genetics
Pregnancy
Research Support, Non-U.S. Gov't
Trans-Activators - genetics
Transcription Factors - genetics
Abstract
AIMS: Diagnostic screening of NEUROD1 in patients with maturity-onset diabetes of the young (MODY) without mutations in the known MODY-genes (MODYX) and in subjects diagnosed with gestational diabetes mellitus. METHODS: Direct sequencing of NEUROD1 was performed in (i) 73 probands with clinical MODY without mutations in hepatocyte nuclear factor (HNF)-4alpha (MODY1), glucokinase (MODY2) and hepatocyte nuclear factor (HNF)-1alpha (MODY3), and (ii) 51 subjects diagnosed with gestational diabetes. Control material consisted of 105 anonymous blood donors. RESULTS: Mean age at diagnosis of diabetes was 22 and 30 years in the MODYX patients and gestational diabetes mellitus subjects, respectively. Mean fasting blood glucose (9.6 +/- 4.3 vs. 5.7 +/- 1.0 mml/l) as well as glycosylated haemoglobin (8.2 +/- 2.4 vs. 6.0 +/- 0.6%) were higher in the MODYX patients than subjects with gestational diabetes. NEUROD1 mutations were not detected in our two study groups. Three previously reported polymorphisms were found: Ala45Thr, Pro197His and IVS1 -32 nt C>T. The amino acid substitution serine to cysteine in codon 29 (designated Ser29Cys) was detected in one out of 105 control subjects. As the control material consisted of anonymous blood donors, we were prevented from investigation of possible co-segregation between the sequence variant Ser29Cys and diabetes mellitus. CONCLUSIONS: As we found no NEUROD1 mutations, diagnostic screening for this gene is not warranted in Norwegian MODYX patients. Our study also suggests that NEUROD1 is not a candidate gene in gestational diabetes mellitus (GDM). The sequence variant Ser29Cys was identified in one anonymous DNA sample, but we were prevented from studying possible co-segregation with diabetes mellitus.
PubMed ID
16026366 View in PubMed
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The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes.

https://arctichealth.org/en/permalink/ahliterature290369
Source
Diabetes Res Clin Pract. 2017 Nov; 133:142-149
Publication Type
Journal Article
Date
Nov-2017
Author
J V Sagen
L Bjørkhaug
B I Haukanes
L Grevle
J Molnes
B G Nedrebø
O Søvik
P R Njølstad
S Johansson
A Molven
Author Affiliation
Hormone Laboratory, Haukeland University Hospital, Bergen, Norway; Department of Clinical Science, University of Bergen, Bergen, Norway; KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway. Electronic address: Jorn.Sagen@uib.no.
Source
Diabetes Res Clin Pract. 2017 Nov; 133:142-149
Date
Nov-2017
Language
English
Publication Type
Journal Article
Keywords
Adolescent
Adult
Age of Onset
Amino Acid Sequence
Base Sequence
Diabetes Mellitus, Type 2 - genetics
Female
Genetic Association Studies
Genetic Linkage
Genetic Predisposition to Disease
Hela Cells
Hepatocyte Nuclear Factor 1-alpha - genetics
Heterozygote
Humans
Male
Middle Aged
Mutation, Missense
Norway
Pedigree
Phenotype
Young Adult
Abstract
Heterozygous mutations in hepatocyte nuclear factor-1A (HNF1A) cause maturity-onset diabetes of the young type 3 (MODY3). Our aim was to compare two families with suspected dominantly inherited diabetes and a new HNF1A variant of unknown clinical significance.
The HNF1A gene was sequenced in two independently recruited families from the Norwegian MODY Registry. Both familes were phenotyped clinically and biochemically. Microsatellite markers around and within the HNF1A locus were used for haplotyping. Chromosomal linkage analysis was performed in one family, and whole-exome sequencing was undertaken in two affected family members from each family. Transactivation activity, DNA binding and nuclear localization of wild type and mutant HNF-1A were assessed.
The novel HNF1A variant c.539C>T (p.Ala180Val) was found in both families. The variant fully co-segregated with diabetes in one family. In the other family, two subjects with diabetes mellitus and one with normal glucose levels were homozygous variant carriers. Chromosomal linkage of diabetes to the HNF1A locus or to other genomic regions could not be established. The protein functional studies did not reveal significant differences between wild type and variant HNF-1A. In each family, whole-exome sequencing failed to identify any other variant that could explain the disease.
The HNF1A variant p.Ala180Val does not seem to cause MODY3, although it may confer risk for type 2 diabetes mellitus. Our data demonstrate challenges in causality evaluation of rare variants detected in known diabetes genes.
PubMed ID
28934671 View in PubMed
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A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young.

https://arctichealth.org/en/permalink/ahliterature33726
Source
Acta Paediatr. 1998 Aug;87(8):853-6
Publication Type
Article
Date
Aug-1998
Author
P R Njølstad
B N Cockburn
G I Bell
O. Søvik
Author Affiliation
Department of Paediatrics, Haukeland University Hospital, Bergen, Norway.
Source
Acta Paediatr. 1998 Aug;87(8):853-6
Date
Aug-1998
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Alleles
Child
Child, Preschool
Codon
Diabetes Mellitus, Type 2 - diagnosis - genetics
Female
Glucokinase - genetics
Humans
Hyperglycemia - diagnosis - genetics
Male
Middle Aged
Mutation, Missense
Norway
Pedigree
Polymerase Chain Reaction
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Abstract
Maturity-onset diabetes of the young (MODY) is a form of diabetes mellitus characterized by autosomal dominant inheritance, onset usually before 25 y of age and a primary defect in glucose-stimulated insulin secretion. It is a heterogeneous disorder both with respect to aetiology and clinical features. Mutations in the genes encoding the glycolytic enzyme glucokinase, the liver-enriched transcription factors, hepatocyte nuclear factor-1alpha (HNF-1alpha), HNF-1beta and HNF-4alpha, and the transcription factor, insulin promoter factor-1 (IPF-1) have all been associated with MODY. Here, we report a family, Norway-2 (N2), characterized by the presence of a mild, complication-free form of diabetes with autosomal dominant inheritance. Sequencing of the glucokinase gene in the proband revealed a T-to-C mutation in codon 62 which resulted in a valine-to-alanine substitution, designated Va162Ala (V62A). The V62A mutation, which has not been previously reported, cosegregated with diabetes in the N2 family. The results presented here indicate that the glucokinase form of MODY occurs in Norway. Moreover, screening the glucokinase gene for mutations in other families with clinical features similar to those of the N2 family could lead to improved treatment for patients with this form of diabetes.
PubMed ID
9736233 View in PubMed
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[Non-insulin dependent diabetes in children and adolescents]

https://arctichealth.org/en/permalink/ahliterature33963
Source
Tidsskr Nor Laegeforen. 1998 Mar 10;118(7):1054-7
Publication Type
Article
Date
Mar-10-1998
Author
P R Njølstad
O. Søvik
G I Bell
B N Cockburn
I. Følling
J. Sagen
Author Affiliation
Barneklinikken, Haukeland Sykehus, Bergen. [Non-insulin dependent diabetes in children and adolescents]
Source
Tidsskr Nor Laegeforen. 1998 Mar 10;118(7):1054-7
Date
Mar-10-1998
Language
Norwegian
Publication Type
Article
Keywords
Adolescent
Adult
Child
DNA Mutational Analysis
Diabetes Mellitus, Type 2 - diagnosis - genetics
English Abstract
Glucokinase - genetics
Humans
Male
Norway
Pedigree
Transcription Factors - genetics
Abstract
Maturity-onset diabetes of the young (MODY) is a clinically and genetically heterogenous disorder characterized by autosomal dominant inheritance with onset usually before 25 years of age, and a primary defect in glucose-stimulated insulin secretion. Genetic analyses have shown that mutations in at least five different genes can cause MODY. These are the genes encoding the glycolytic enzyme glucokinase, three liver-enriched transcription factors, hepatocyte nuclear factor (HNF)-1 alpha, HNF-1 beta and HNF-4 alpha, and the gene encoding the transcription factor, insulin promoter factor-1 (IPF-1). Patients with MODY3 run a considerable risk of developing diabetic eye disease. MODY2, related to glucokinase deficiency, is a relatively benign disorder which does not usually require insulin. Experiences with the three other MODY forms have so far been restricted to very few families. We present the first Norwegian family with MODY2. Furthermore, a previously published Norwegian family is shown to be MODY3. Subjects who fulfil the criteria of MODY can, by genetic testing, gain information important for prognosis and perhaps also for therapy.
PubMed ID
9531829 View in PubMed
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Papillary thyroid carcinoma: a multivariate analysis of prognostic factors including an evaluation of the p-TNM staging system.

https://arctichealth.org/en/permalink/ahliterature24308
Source
Eur J Surg. 1992 Nov-Dec;158(11-12):583-9
Publication Type
Article
Author
H. Salvesen
P R Njølstad
L A Akslen
G. Albrektsen
O. Søreide
J E Varhaug
Author Affiliation
Department of Surgery, Haukeland University Hospital, Bergen, Norway.
Source
Eur J Surg. 1992 Nov-Dec;158(11-12):583-9
Language
English
Publication Type
Article
Keywords
Adult
Aged
Carcinoma, Papillary - mortality - pathology - secondary
Female
Humans
Male
Middle Aged
Multivariate Analysis
Neoplasm Recurrence, Local
Neoplasm Staging
Prognosis
Research Support, Non-U.S. Gov't
Retrospective Studies
Thyroid Neoplasms - mortality - pathology
Abstract
OBJECTIVE--To analyse the prognostic factors in papillary thyroid carcinoma, and in particular to evaluate the accuracy of the pathological tumour, nodes, metastases (p-TNM) staging. DESIGN--Retrospective univariate and multivariate analysis. SETTING--University hospital in Norway. SUBJECTS--167 patients who were operated on for papillary thyroid carcinoma between 1971 and 1985. Main outcome measures--Death of papillary thyroid carcinoma, and length of recurrence free survival. RESULTS--Male sex, increasing age, larger tumours, and spread of growth beyond the thyroid all independently increased the risk of dying of papillary thyroid carcinoma, whereas the period of recurrence free survival was influenced only by the presence of regional metastases and the patient's age. The age related p-TNM staging is suitable for predicting the likelihood of death, but is less accurate in the prediction of recurrence free survival. The age of 45 years is too low to be useful in predicting survival, especially in women. CONCLUSION--The identification of sex in the multivariate analysis as a strong independent predictor of death of papillary thyroid cancer suggests that the prognostic value of the age related p-TNM staging system could be improved if sex was adjusted for, and if a different age was used for men and women.
PubMed ID
1363062 View in PubMed
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8 records – page 1 of 1.