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5-alpha-reductase 2 polymorphisms as risk factors in prostate cancer.

https://arctichealth.org/en/permalink/ahliterature19112
Source
Pharmacogenetics. 2002 Jun;12(4):307-12
Publication Type
Article
Date
Jun-2002
Author
Söderström T
Wadelius M
Andersson S-O
Johansson J-E
Johansson S
Granath F
Rane A
Author Affiliation
Department of Medical Sciences, Clinical Pharmacology, University Hospital, S-751 85 Uppsala, Sweden. torbjorn.soderstrom@lmk.ck.lul.se
Source
Pharmacogenetics. 2002 Jun;12(4):307-12
Date
Jun-2002
Language
English
Publication Type
Article
Keywords
Age Factors
Aged
Alleles
Case-Control Studies
Cell Differentiation
DNA - blood - metabolism
DNA Primers - chemistry
European Continental Ancestry Group
Genotype
Heterozygote
Humans
Male
Middle Aged
Neoplasm Staging
Odds Ratio
Polymerase Chain Reaction
Polymorphism, Genetic
Prostate-Specific Antigen - metabolism
Prostatic Neoplasms - enzymology - etiology - genetics
Research Support, Non-U.S. Gov't
Risk factors
Sweden - epidemiology
Testosterone 5-alpha-Reductase - genetics
Abstract
Prostate cancer is a significant cause of death in Western countries and is under the strong influence of androgens. The steroid 5alpha-reductase 2 catalyzes the metabolism of testosterone into the more potent androgen dihydrotestosterone in the prostate gland. The enzyme is a target in pharmacological treatment of benign prostatic hyperplasia using specific inhibitors such as finasteride. Makridakis et al. have characterized the V89L and A49T polymorphisms in recombinant expression systems. The L allelic variant has a lower Vmax/Km ratio than the V variant. In the A49T polymorphism, the T variant has an increased Vmax/Km ratio. We performed a population-based case-control study of the impact of the SRD5A2 V89L and A49T polymorphisms on the risk of prostate cancer. We also studied the relation between the genotypes and age at diagnosis, tumor, node, metastasis stage, differentiation grade, prostate specific antigen and heredity. The study included 175 prostate cancer patients and 159 healthy controls that were matched for age. There was an association with SRD5A2 V89L LL genotype and metastases at the time of diagnosis, OR 5.67 (95% CI 1.44-22.30) when adjusted for age, differentiation grade, T-stage and prostate specific antigen. Heterozygous prostate cancer cases that carried the SRD5A2 A49T AT genotype were significantly younger than cases that carried the AA genotype, (mean age 66 years vs 71, P = 0.038). The SRD5A2 V89L and A49T polymorphisms were, however, not associated with altered prostate cancer risk. Further studies of the V89L polymorphism may lead to better understanding of the etiology of prostate cancer metastases.
PubMed ID
12042668 View in PubMed
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A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes.

https://arctichealth.org/en/permalink/ahliterature91535
Source
Genes Immun. 2009 Mar;10(2):120-4
Publication Type
Article
Date
Mar-2009
Author
Magitta N F
Bøe Wolff A S
Johansson S.
Skinningsrud B.
Lie B A
Myhr K-M
Undlien D E
Joner G.
Njølstad P R
Kvien T K
Førre Ø.
Knappskog P M
Husebye E S
Author Affiliation
Centre of Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
Source
Genes Immun. 2009 Mar;10(2):120-4
Date
Mar-2009
Language
English
Publication Type
Article
Keywords
Adaptor Proteins, Signal Transducing - genetics
Addison Disease - genetics
Adolescent
Adult
Aged
Aged, 80 and over
Apoptosis Regulatory Proteins - genetics
Child
Cohort Studies
Diabetes Mellitus, Type 1 - genetics
Female
Humans
Immunity, Innate - genetics
Male
Middle Aged
Norway
Open Reading Frames - genetics
Organ Specificity - genetics
Polymorphism, Single Nucleotide
Abstract
Variants in the gene encoding NACHT leucine-rich-repeat protein 1 (NALP1), an important molecule in innate immunity, have recently been shown to confer risk for vitiligo and associated autoimmunity. We hypothesized that sequence variants in this gene may be involved in susceptibility to a wider spectrum of autoimmune diseases. Investigating large patient cohorts from six different autoimmune diseases, that is autoimmune Addison's disease (n=333), type 1 diabetes (n=1086), multiple sclerosis (n=502), rheumatoid arthritis (n=945), systemic lupus erythematosus (n=156) and juvenile idiopathic arthritis (n=505), against 3273 healthy controls, we analyzed four single nucleotide polymorphisms (SNPs) in NALP1. The major allele of the coding SNP rs12150220 revealed significant association with autoimmune Addison's disease compared with controls (OR=1.25, 95% CI: 1.06-1.49, P=0.007), and with type 1 diabetes (OR=1.15, 95% CI: 1.04-1.27, P=0.005). Trends toward the same associations were seen in rheumatoid arthritis, systemic lupus erythematosus and, although less obvious, multiple sclerosis. Patients with juvenile idiopathic arthritis did not show association with NALP1 gene variants. The results indicate that NALP1 and the innate immune system may be implicated in the pathogenesis of many autoimmune disorders, particularly organ-specific autoimmune diseases.
PubMed ID
18946481 View in PubMed
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Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based cohort (the HUNT study).

https://arctichealth.org/en/permalink/ahliterature93266
Source
Diabetologia. 2008 Jun;51(6):971-7
Publication Type
Article
Date
Jun-2008
Author
Hertel J K
Johansson S.
Raeder H.
Midthjell K.
Lyssenko V.
Groop L.
Molven A.
Njølstad P R
Author Affiliation
Department of Clinical Medicine, University of Bergen, Bergen, Norway.
Source
Diabetologia. 2008 Jun;51(6):971-7
Date
Jun-2008
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Blood Glucose - analysis
Cohort Studies
Cyclin-Dependent Kinases - genetics
Diabetes Mellitus, Type 2 - enzymology - genetics
Female
Genome, Human
Humans
Insulin-Like Growth Factor Binding Protein 2 - genetics
Male
Middle Aged
Norway
Polymorphism, Single Nucleotide
Abstract
AIMS/HYPOTHESIS: Recent genome-wide association studies performed in selected patients and control participants have provided strong support for several new type 2 diabetes susceptibility loci. To get a better estimation of the true risk conferred by these novel loci, we tested a completely unselected population of type 2 diabetes patients from a Norwegian health survey (the HUNT study). METHODS: We genotyped single nucleotide polymorphisms (SNPs) in PKN2, IGFBP2, FLJ39370 (also known as C4ORF32), CDKAL1, SLC30A8, CDKN2B, HHEX and FTO using a Norwegian population-based sample of 1,638 patients with type 2 diabetes and 1,858 non-diabetic control participants (the HUNT Study), for all of whom data on BMI, WHR, cholesterol and triacylglycerol levels were available. We used diabetes, measures of obesity and lipid values as phenotypes in case-control and quantitative association study designs. RESULTS: We replicated the association with type 2 diabetes for rs10811661 in the vicinity of CDKN2B (OR 1.20, 95% CI: 1.06-1.37, p=0.004), rs9939609 in FTO (OR 1.14, 95% CI: 1.04-1.25, p=0.006) and rs13266634 in SLC30A8 (OR 1.20, 95% CI: 1.09-1.33, p=3.9 x 10(-4)). We found borderline significant association for the IGFBP2 SNP rs4402960 (OR 1.10, 95% CI: 0.99-1.22). Results for the HHEX SNP (rs1111875) and the CDKAL1 SNP (rs7756992) were non-significant, but the magnitude of effect was similar to previous estimates. We found no support for an association with the less consistently replicated FLJ39370 or PKN2 SNPs. In agreement with previous studies, FTO was most strongly associated with BMI (p=8.4 x 10(-4)). CONCLUSIONS/INTERPRETATION: Our data show that SNPs near IGFBP2, CDKAL1, SLC30A8, CDKN2B, HHEX and FTO are also associated with diabetes in non-selected patients with type 2 diabetes.
PubMed ID
18437351 View in PubMed
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Patients with irritable bowel syndrome in primary care appear not to be heavy healthcare utilizers.

https://arctichealth.org/en/permalink/ahliterature82592
Source
Aliment Pharmacol Ther. 2006 Mar 15;23(6):807-14
Publication Type
Article
Date
Mar-15-2006
Author
Faresjö A.
Grodzinsky E.
Foldevi M.
Johansson S.
Wallander M-A
Author Affiliation
Department of Health and Society, General Practice and Primary Care, Faculty of Health Sciences, Linköping University, Linköping, Sweden. ashfa@ihs.liu.se
Source
Aliment Pharmacol Ther. 2006 Mar 15;23(6):807-14
Date
Mar-15-2006
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Age Distribution
Aged
Child
Child, Preschool
Endoscopy, Gastrointestinal - methods
Family Practice
Female
Gastrointestinal Agents - therapeutic use
Humans
Infant
Irritable Bowel Syndrome - epidemiology - psychology - therapy
Male
Middle Aged
Patient Acceptance of Health Care - psychology
Primary Health Care
Referral and Consultation
Retrospective Studies
Sex Distribution
Sweden - epidemiology
Abstract
BACKGROUND: Irritable bowel syndrome is a frequently diagnosed gastrointestinal condition in general practice. Managing this chronic condition requires a co-ordinated effort between patient and doctor. AIM: To explore the patterns of treatment and healthcare utilization of irritable bowel syndrome cases in a Swedish primary care setting. METHODS: All cases with a registered diagnosis of irritable bowel syndrome were identified retrospectively for a 5-year period through computerized medical records at three primary healthcare centres in Sweden. Documentation of diagnosis, healthcare visits, treatments, investigations, medications, referrals, laboratory tests, mental and demographic data were retrieved from the records. RESULTS: Of all 723 irritable bowel syndrome patients identified, only 37% had a follow-up appointment to their General Practitioner during the study period. For 80%, the General Practitioner initiated some treatment during the initial consultation and 75% were prescribed medication. Fibre and bulking laxatives and acid-suppressive drugs were the most common medication. Almost a quarter was referred for complementary investigations at hospital, only 8.9% of the irritable bowel syndrome patients were referred to a specialist investigation. Laboratory investigations varied and were ordered more frequently (P = 0.05) for men. CONCLUSIONS: Irritable bowel syndrome patients appear not to be heavy utilizers of primary care and, of those who attend, the majority are managed by their General Practitioner.
PubMed ID
16556183 View in PubMed
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Pholcodine stimulates a dramatic increase of IgE in IgE-sensitized individuals. A pilot study.

https://arctichealth.org/en/permalink/ahliterature82996
Source
Allergy. 2006 Jan;61(1):49-55
Publication Type
Article
Date
Jan-2006
Author
Florvaag E.
Johansson S G O
Oman H.
Harboe T.
Nopp A.
Author Affiliation
Laboratory of Clinical Biochemistry, Haukeland University Hospital, Bergen, Norway.
Source
Allergy. 2006 Jan;61(1):49-55
Date
Jan-2006
Language
English
Publication Type
Article
Keywords
Adult
Allergens - administration & dosage - immunology
Antitussive Agents - administration & dosage - immunology
Codeine - administration & dosage - analogs & derivatives
Enzyme-Linked Immunosorbent Assay
Female
Galectin 3 - immunology
Humans
Hypersensitivity - immunology - physiopathology
Immunization
Immunoglobulin E - biosynthesis - immunology
Leukocytes, Mononuclear - drug effects - immunology
Male
Morphine - administration & dosage
Morpholines - administration & dosage
Neuromuscular Blocking Agents - administration & dosage - immunology
Pilot Projects
Sensitivity and specificity
Succinylcholine - administration & dosage
Abstract
BACKGROUND: A previous study showed a relation between pholcodine (PHO) consumption, prevalence of IgE-sensitization to PHO, morphine (MOR) and suxamethonium (SUX) and anaphylaxis to neuromuscular blocking agents (NMBA). The purpose of this pilot study was to explore the effect on IgE production, in IgE-sensitized and nonsensitized individuals, of exposure to cough syrup and environmental chemicals containing PHO, MOR and SUX related allergenic structures. METHODS: Serum concentrations of IgE and IgE antibodies to PHO, MOR and SUX allergens measured by ImmunoCAP (Pharmacia Diagnostics, Uppsala, Sweden) were followed after intake of cough syrup, or exposure to confectionary and other household chemicals containing various amounts of substances cross-reacting with PHO, MOR and SUX. RESULTS: Cough syrup containing PHO gave, in sensitized individuals, within 1-2 weeks, an increase of IgE of 60-105 times and of IgE antibodies to PHO, MOR and SUX in the order of 30-80 times. The tested confectionary did not have any similar stimulating effect but seemed to counteract the expected decrease of IgE. No effect was seen in nonsensitized individuals. The PHO stimulated IgE showed a nonspecific binding to ImmunoCAP with common allergens and glycine background ImmunoCAP that was up to 10-fold higher than that of monomeric myeloma-IgE at twice the concentration. CONCLUSIONS: It seems as cough syrups containing PHO have a most remarkable IgE boostering effect in persons IgE-sensitized to PHO, MOR and SUX related allergens. Household chemicals containing such allergenic epitopes seem capable of some, minor, stimulation.
PubMed ID
16364156 View in PubMed
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Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study).

https://arctichealth.org/en/permalink/ahliterature93089
Source
Diabet Med. 2008 Jul;25(7):775-81
Publication Type
Article
Date
Jul-2008
Author
Eide S A
Raeder H.
Johansson S.
Midthjell K.
Søvik O.
Njølstad P R
Molven A.
Author Affiliation
Section for Pediatrics, Department of Clinical Medicine, University of Bergen, Bergen, Norway.
Source
Diabet Med. 2008 Jul;25(7):775-81
Date
Jul-2008
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Diabetes Mellitus, Type 2 - epidemiology - genetics
Epidemiologic Methods
Female
Hepatocyte Nuclear Factor 1-alpha - genetics
Humans
Male
Middle Aged
Mutagenesis - genetics
Norway - epidemiology
Abstract
AIMS: Previous reports have indicated that maturity-onset diabetes of the young (MODY) caused by hepatocyte nuclear factor 1A (HNF1A) mutations (MODY3) is the most common MODY subtype in Northern Europe, but population-based prevalence estimates are lacking. We sought to determine the prevalence of HNF1A-MODY in diabetic subjects of a defined Norwegian population (the HUNT2 Study). METHODS: Of the 1972 diabetic HUNT2 subjects, we identified a subgroup of 43 suspected MODY cases based on information on family history, disease onset and anti-glutamic acid decarboxylase autoantibody status. These cases were considered a discovery group for HNF1A mutations and underwent full DNA sequencing. Subsequently, the entire cohort of diabetic HUNT2 subjects was screened for three selected HNF1A mutations. Possible founder effects were examined using the Norwegian MODY Registry. RESULTS: Three subjects from the discovery group harboured HNF1A mutations. Two subjects had the previously described R229Q mutation, one had a novel S6N alteration, whereas the HNF1A hot-spot mutation P291fsinsC was not identified. Genotyping the cohort of diabetic HUNT2 subjects identified five additional R229Q-positive subjects. Microsatellite analysis performed for all R229Q-positive probands of the Norwegian MODY Registry and those found in the HUNT2 population revealed that 17 of 18 (94%) had genotypes consistent with a common haplotype. CONCLUSIONS: Clinical MODY criteria were fulfilled in 2.2% of diabetic HUNT2 subjects. The minimum prevalence of HNF1A-MODY among diabetic HUNT2 subjects was 0.4%. Because of founder effects, registry-based prevalence studies probably need to be very large and they should also include prospectively collected phenotypes and extensive mutation screening to establish the true prevalence of MODY.
PubMed ID
18513305 View in PubMed
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Severe gastro-oesophageal reflux symptoms in relation to anxiety, depression and coping in a population-based study.

https://arctichealth.org/en/permalink/ahliterature84905
Source
Aliment Pharmacol Ther. 2007 Sep 1;26(5):683-91
Publication Type
Article
Date
Sep-1-2007
Author
Jansson C.
Nordenstedt H.
Wallander M-A
Johansson S.
Johnsen R.
Hveem K.
Lagergren J.
Author Affiliation
Unit of Esophageal and Gastric Research, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. catarina.jansson@ki.se
Source
Aliment Pharmacol Ther. 2007 Sep 1;26(5):683-91
Date
Sep-1-2007
Language
English
Publication Type
Article
Keywords
Adaptation, Psychological - physiology
Anxiety - complications
Body mass index
Depressive Disorder - complications - epidemiology
Epidemiologic Methods
Female
Gastroesophageal Reflux - epidemiology - psychology
Heartburn - psychology
Humans
Male
Socioeconomic Factors
Sweden - epidemiology
Abstract
BACKGROUND: The association between psychiatric disorders and gastro-oesophageal reflux symptoms is uncertain, and few population-based studies are available. AIM: To examine the association between psychiatric and psychological factors and reflux symptoms. METHODS: Population-based, cross-sectional, case-control study based on two health surveys conducted in the Norwegian county Nord-Trondelag in 1984-1986 and 1995-1997. Reflux symptoms were assessed in the second survey, including 65,333 participants (70% of the county's adult population). 3153 subjects reporting severe reflux symptoms were defined as cases and 40,210 subjects without symptoms were defined as controls. Data were collected in questionnaires. Odds ratio with 95% confidence intervals were estimated using unconditional logistic regression, in adjusted models. RESULTS: Subjects reporting anxiety without depression had a 3.2-fold (95% CI: 2.7-3.8) increased risk of reflux, subjects with depression without anxiety had a 1.7-fold (95% CI: 1.4-2.1) increased risk and subjects with both anxiety and depression had a 2.8-fold (95% CI: 2.4-3.2) increased risk, compared to subjects without anxiety/depression. We observed a weak inverse association between one measure of covert coping and risk of reflux and a weak positive association between another coping measure and risk of reflux. CONCLUSIONS: This population-based study indicates that anxiety and depression are strongly associated with reflux symptoms, while no consistent association regarding coping and reflux was found.
PubMed ID
17697202 View in PubMed
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Use of health services in people with multiple sclerosis with and without fatigue.

https://arctichealth.org/en/permalink/ahliterature92515
Source
Mult Scler. 2009 Jan;15(1):88-95
Publication Type
Article
Date
Jan-2009
Author
Johansson S.
Ytterberg C.
Gottberg K.
Widén Holmqvist L.
von Koch L.
Author Affiliation
Division of Neurology, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. sverker.johansson@ki.se
Source
Mult Scler. 2009 Jan;15(1):88-95
Date
Jan-2009
Language
English
Publication Type
Article
Keywords
Adult
Aged
Ambulatory Care - utilization
Fatigue - epidemiology - therapy
Female
Humans
Length of Stay - statistics & numerical data
Male
Middle Aged
Multiple Sclerosis - epidemiology - therapy
Outpatient Clinics, Hospital - utilization
Primary Health Care - utilization
Registries
Rehabilitation - statistics & numerical data
Severity of Illness Index
Sweden - epidemiology
Young Adult
Abstract
OBJECTIVE: To explore and compare the use of health services in people with multiple sclerosis (MS) with and without fatigue. METHODS: Over a period of 30 months, the use of health services in 48 MS outpatients with persistent fatigue and 36 without fatigue was studied. Data were collected from a computerized register and by interviews, and analyzed with regard to disease severity categorized as mild or moderate/severe MS. RESULTS: Fatigued people with mild MS used more hospital outpatient care and primary care including rehabilitation, and a higher proportion had transportation service, compared with non-fatigued people with mild MS. In moderate/severe MS, the differences were that non-fatigued people used more occupational therapy in primary care and a higher proportion had salaried service. Regardless of MS severity, informal care was more common among fatigued people. CONCLUSIONS: Overall, fatigued people with mild MS have more contacts with outpatient health care compared with non-fatigued people. There are few such differences in people with moderate/severe MS. The reasons for the differences in use between fatigued and non-fatigued people are not understood and need further exploration. Fatigued people more often receive informal care, thus support to caregivers are of particular importance if fatigue is present.
PubMed ID
18701570 View in PubMed
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Working conditions and cultural competence when interacting with children and parents of foreign origin--Primary Child Health Nurses' opinions

https://arctichealth.org/en/permalink/ahliterature81973
Source
Scand J Caring Sci. 2006 Jun;20(2):160-8
Publication Type
Article
Date
Jun-2006
Author
Berlin, A
Johansson, S-E
Törnkvist, L
Author Affiliation
Neurotec Department, Family Medicine Stockholm, Karolinska Institute, Huddinge, Sweden. anita.berlin@slpo.sll.se
Source
Scand J Caring Sci. 2006 Jun;20(2):160-8
Date
Jun-2006
Language
English
Publication Type
Article
Keywords
Adult
Attitude of Health Personnel
Child
Child Health Services
Clinical Competence - standards
Cultural Diversity
Emigration and Immigration
Humans
Job Satisfaction
Middle Aged
Needs Assessment
Nurse-Patient Relations
Nursing Methodology Research
Nursing Staff - education - psychology
Nursing, Supervisory
Pediatric Nursing - education - organization & administration
Primary Health Care
Professional-Family Relations
Questionnaires
Residence Characteristics
Self Efficacy
Sweden
Transcultural Nursing - education - organization & administration
Workplace - organization & administration - psychology
Abstract
BACKGROUND: Interaction with children and parents of foreign origin is an important part of Primary Child Health Care (PCHC) services. Cultural competence among Primary Child Health Nurses' (PCHNurses') must therefore be regarded as essential. Cultural competence has been described as a process with different steps through which an individual must proceed. AIM: The present study investigates PCHNurses' opinions regarding their working conditions and cultural competence. The focus will be placed on their interaction with children and parents of foreign origin. METHODS: A total of 270 PCHNurses working in the PCHC services in Stockholm County responded to a questionnaire (response rate 70%). The association between experiences of difficulties and nine explanatory variables were analysed with logistic regression. RESULTS: Many of the PCHNurses reported inadequate working conditions and dissatisfaction with the quality of their healthcare work and said that they lacked written guidelines, support and help. A majority (84%) experienced difficulties in their interactions with children and parents of foreign origin, although to different degrees. The odds of experiencing difficulties were increased when nurses were responsible for a high proportion of children of foreign origin, when nurses had long professional experience and when they worked more than 50% on child-health-services assignments. Many nurses had no formal training in cultural competence and the majority felt that their formal and clinical cultural competence was insufficient. CONCLUSIONS: Deficiencies were found regarding the PCHNurses' working conditions and cultural competence when interacting with children and parents of foreign origin. Improvements are needed to facilitate the nurses' healthcare work and to enable high quality health care on equal terms for all children and parents visiting the PCHC services.
PubMed ID
16756521 View in PubMed
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10 records – page 1 of 1.